USMLE 1 Notes, DR KY

BIOCHEMISTRY POINTS (FROM
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1. DNA binding domain/protein include ………………transcriptional factors ( MYC, CREB) , steroid
receptors ( cholesterol, progesterone, aldosterone ) , thyroid hormone receptor, fat soluble vitamin
receptors and DNA transcription and translation proteins
2. In sickle cell anemia, sickling is promoted by……………………. Low blood volume, increase acidity,
low oxygen level, increase 2,3BPG (normally 2,3BPG bind to HB and decreases the HB and o2 affinity,
facilitating o2 release at tissue level. So in 2,3 BPG depletion, the affinity of HB for o2 increase, leading
to left shift of thee dissociation curve. Thus o2 uptake by HB increase and sickling decreases )
3. Thiamine requiring enzymes …………………………. PDH, Alpha-ketogultarate dehydrogenase (TCA
cycle), Transketolase (HMP Shunt) and branched chain keto-acid dehydrogenase. In chronic
alcoholics, alcohol dehydrogenase and aldehyde dehydrogenase consume NAD and lead to increase
NADH/NAD ratio. This inhibits all pathways requiring NAD. Also alcoholics are deficient in Thiamine.
if they give you the diagram of any pathway and ask you which step will be inhibited , just look the
pathway and check thiamine dependent enzyme .This is because in alcoholics thiamine is deficient so
thiamine dependant enzyme won’t work
4. RAS gene ……………………is active only when bound to GTP and inactive when bound to GDP
5. P50 ……………..refers to partial pressure of o2 at which HB is 50% saturated. HB with high o2 affinity
have decreased P50 that is represented by left shift of o2 disassociation curve. This reduced the
ability to release o2 to tissues, leading to hypoxia which stimulated EPO. This lead to compensatory
erythrocytosis
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6. Marfan syndrome ……………….is due to defect in fibrillin 1, an extracellular glycoprotein that form
sheath around elastin. It is abundant in zonular fibers of lens, periosteum and aortic media. Aortic root
dilation with rupture is the most common cause of death
7. DNA polymerase 1 …………………...during bacterial DNA replication, DNA polymerase 1 functions to
remove RNA primers via its 5-3 exonuclease activity and replace them with DNA via 5-3 polymerase
activity. DNA polymerase 1 is the only bacterial DNA polymerase that has 5-3 exonuclease activity.
8. Initial HB form by fetus in utero is …………………called Gower Hb ( two zeta and two epsilon chain ),
produced largely by embryonic yolk sac. Within few weeks fetal liver start synthesizing HBF (two
alpha and two gamma chains), which is the major HB during the last month of gestation and during
first few weeks of post natal life, which is then replace by adult HBA. In homozygote B-thalasemia (
thaalsemia major ), patients are asymptomatic at birth due to the presence of gamma chain and HBF
9. Steroid producing cells contain …………………..a well developed smooth ER
10.RER ……………...plays an important role in synthesis and modification of targeted proteins, including
secretable polypeptide hormones. Some of the syndromes due to overproduction of these polypeptide
hormones by RER include ( SIADH, insulinomas, zollinger elson syndrome and putitary adenoma)
11. Cores disease…………………a disbranching enzyme deficiency which involves both liver and muscle .
classical finding is abnormal glycogen with very short outer chains .
12. Hyper ammonia ………………. normally astrocytes regulate neuronal transmission by taking up
glutamate present in the synapse, preventing excessive neuronal excitation. Then via the action of
glutamate synthase the glutamate undergoes reaction with ammonia to form glutamine. Glutamine is
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then released by astrocytes and taken up neurons where it is converted back to glutamate to be used
as neurotransmitter (GLUTAMATE-GLUTAMINE CYCLE). When excess ammonia is present, it cross
BBB and cause increased production of glutamine and cause its accumulation in astrocytes . Thus,
decrease the amount of glutamine available for conversion to glutamate , resulting in disruption of
excitatory neurotransmitter
13. Mitochondrial DNA ………………most common non-nuclear DNA found in eukaryotic cells and is
maternally derived. It encodes for about 14 protein which are involved in oxidative-phosphorylation,
and some also encode for ribosomal and transfer RNA, needed for mitochondrial protein synthesis.
Mitochondria can be easily identified in electron microscope via its double membrane and wavy cristae.
14. In phenylketonuria patient ………………….tyrosine is the essential AA because phenylalaine
hydoxylase deficiency in these patients block conversion of phenylalanine to tyrosine. Also high
phenyalanine inhibit the tyrosinase enzymes which is responsible for production of melanin so that is
why these patient has fair skin, eyes, and also hypopigmentation of cetecholaminergic brain nuclei
(substantia nigra, locus ceruleus and dorsal vagal neuclei)
15. Mapple syrup urine disease ………………. deficiency of branched chain alpha ketoacid
dehydrogenase result in blocked degradation of branced amino acid (isoleucine and valine to
propanyl coA and leucine to actyl co-A is blocked). Branched chain alpha ketoacid dehydrogenase
(also PDH and alpha ketogultarate dehydrogenase) require 5 cofactor: Thiamine, lipoid acid ,
coenzyme A, FADH2 and NADH . URINE in this disease smell like syryp/burnt/caramelizing sugar.
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Some patients with MSUD response to thiamine supplement. Total restriction on isoleucine ,leucine
and valine
16. Gluconeogenesis …………………...Acetyl co A stimulate the first step in gluconeogeneis by
stimulating the enzyme pyruvate carboxylase.
17. snRNA ……………it is synthesized by RNA polymerase 2 in nucleus and complex with specific
protein to form snRNP. snRNP is an essential component of splicesome whose function is to remove
intron and convert primary transcript (pre mRNA ) to mature RNA . PATIENT with SLE has
autoantibodies against snRNP called anti smith antibody
18.Niemann-pick disease……………deficiency of sphingomyelinase which cause accumulation of
sphingomeylin. Clinical findings are neurodegenration and hepatospleomegaly, foam cell and cherry
red spot in macula. (In tay sach disease also neurodegeneration and cheery red spot occur but
hepatosplenomegaly is absent)
19.Mitochondaria …………..necessary for 1st and final 3 steps of heme synthesis. If erythrocyte loose
mitochondria, they lose the ability to generate heme and therefore HB
20. Haldane effect (LUNG) …………………-deoxygenated blood enters alveolar capillaries………. rise in
pO2 increases binding of O2 to hemoglobin (left shift) and causes release of H+ and CO2 from
hemoglobin………………HCO3- shifts back into erythrocytes in exchange for chloride, carbonic
anhydrase converts H+ and HCO3- back into CO2 + H2O …………. CO2 is then excreted through lungs
21. Bohr effect (PERIPHERAL TISSUE) ………………...increase in PCO2 enhances release of O2 from
hemoglobin (right shift). Tissue releases CO2 - majority is converted by erythrocyte carbonic
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anhydrase to HCO3- + H+………………HCO3- shifted out of erythrocytes for Cl- in plasma, H+ remains in
erythrocytes……………….H+ buffered by histidine residues on Hb and in process helps stabilize the
deoxygenated form of Hb and decreases affinity for O2
22. Galactokinase deficiency ……………. result in build of up of galactose, which is converted to
galactitol by aldose reductase enzyme. Galactitiol accumulates in lens of the eye giving rise to
childhood cataract
23. Homocystinuria ………….is caused by deficiency of cystathionine deficiency. Affected
individuals has marfanoid habitus, ectopic lentis and developmental delay. Morbidity is due to
thromboembolism. Majority of the patient responses to vit b6 supplements. ALSO, due to enzyme
deficiency cysteine can’t be formed, cysteine supplement should be added to these patient diet.
24. Folate deficiency ………………normally folate derivatives are crucial for synthesis of nucleic acid,
particularly thymine but also purines. In presence of folate active form (THF) which is formed by
dihydrofolate reducatse from dihydrofolate , the thymidylate synthase converts dUMP to dTMP (
DNA synthesis ). In folate deficiency, synthesis of nucleic acid won’t happen,particulary the
formation of dTMP. This lead to defective DNA synthesis that cause increase apoptosis of homeopathic
stem cells and megaloblastic anemia. Thymidine supplementation bypass this enzyme and can
reduce eryhtroid cell apoptosis
25. Zellweger syndrome ……………AR condition. Disorder of peroxisome biogenesis due to mutated
PEX gene. Peroxisome won’t be able to do B-oxidation of LCFA. Thus LCFA accumulate in neuronal cell
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membrane leading to neurologic deficits like hypotonic, seizures and developmental delay. Also
craniofacial abnormalities and hepatomegaly can occur
26. G6PD deficiency………………cause hemolytic anemia and jaundice secondary to oxidative stress
due to lack of NADPH, which is required by glutathione reductase to convert oxidized glutathione to
reduced glutathione. Glutathione reductase deficiency will have the same clinical presentation like
G6PD. This is because its absence results in ability to utilize NADPH to reduce glutathione
27. Essential fructosuria ………….AR condition due to defect in fructokinase. Fructose similar to
glucose and galactose is a reducing sugar and can be detected by CU reduction test, which
nonspecifically detect the presence of reducing sugar. A urine dipstick however uses glucose oxidase
to detect the presence of urinary glucose and will not test positive in presence of fructose or
galactose. Also in this disorder the hexokinase become the primary pathway that convert fructose
to F-6-PO4
28. RT-PCR……………..detects and quantifies mRNA levels in a sample. Uses reverse transcriptase to
create complementary DNA template that is amplified via standard PCR procedure. RT-PCR can be
used to diagnose CML by identifying mRNA transcript containing both BCR and ABL exons in affected
cells
29. Dihydrobiopetrin reductase deficiency……………...This enzyme is used for conversion of BH2 to
BH4, which is then used as cofactor by phenylalanine and tyrosine hydroxylase. In phenylketonuria
patients although tyrosine supplementation can lead to normal catecholamine production as tyrosine
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hydroxylase is working fine but since BH4 is deficient, the enzyme won’t work properly, leading to
downstream deficiency of epinephrine, norepinephrine, dopamine and serotonin
30. PDH complex deficiency …………. Patients are unable to convert pyruvate to acetyl co A and
instead it is converted to lactic acid leading to lactic acidosis. In these patient, ketogenic AA like
leucine and lysine can provide energy in the form of acetyl co A (which can form ketone bodies)
without increasing lactate production. Glycogenic AA should not be given to these patients as their
metabolism produce pyruvate or TCA cycle intermediates, which can be converted to glucose via
gluconeogenesis
31. Ornithine transcarbamylase deficiency …………..this enzyme cause conversion of carbamoyl
phosphate+ ornithine to citrulline, which is one of the step in urea cycle . Deficiency leads to
accumulation of cabamoyl phosphate which lead to pyrimidine synthesis. As an intermediate
product in this pathway, the carbomyl phosphate is converted to orotic acid which accumulates,
leading to orotic acid in urine. Patient also has hyperammonemia which cannot be seen in classical
orotic aciduria caused by deficiency of uridine monophosphate synthase
32. Southwestern blot……………identifies DNA binding proteins such as transcription factors (c-Jun
and c-Fos), nuclease and hsitone.
33. Ubiquitin …………….is a protein that undergoes ATP dependent attachment to other protein,
labeling them for degradation by proteasome in to small peptides. Impairment of ubiquitin-
proteasome system can contribute to the development of neurodegenerative disorder, including
Parkinson’s and Alzheimer’s disease
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34. Leptin ………………protein hormone produced by adipocytes in proportion to the quantity of fat
stored. It acts on the arcuate nucleus of hypothalamus to inhibit production of neuropeptide Y
(decreasing appetite) and stimulate production of alpha-MSH (increasing satiety). Individuals who
have Mutation in genes encoding leptin receptors result in ineffective leptin signaling. As a result it
leads to hyperphagia and profund obesity. As leptin production will be normal in these individuals,
leptin levels are elevated due to increased lipocyte mass. However, those who has mutation in leptic
production also become hyperphagic and obese but their leptin level will be low.
35. JAK-STAT pathways ……………. used by GH, cytokines (interferons) and hematopoietic growth
factors (erythropoietin, G-CSF)
36. Integrins ………………. adhesion of cells to ECM involves integrin mediated binding to fibronectin,
collagen and laminin.
37. Hormone sensitive lipase…………………...degrades TG stored in adipocytes to FFA and glycerol.
During fasting , the glycerol can be used as a carbon source for gluconeogenesis and the FFA can be
used for ketone body formation
38. Fibrates (fenofibrate, gemfibrozil) ……………PPAR-gamma, leading to up regulation of
lipoprotein lipase. This lead to increased oxidation of FA. However, this drug also inhibits cholesterol
7-alpha hydroxylase, which catalyze the rate limiting step in bile acid synthesis. The reduced bile acid
production leads to decreased cholesterol solubility in bile and favor the formation of cholesterol
gallstones (yellow to pale gray and hard)
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39. Pigment stone…………….are composed of calcium salt of unconjugated bilirubin that are soft and
dark brown in color. They typically arise secondary to bacterial infection (E. coli), helimenthic
infection ( Ascaris, clonorchis sinensis), which cause the release of beta-glucuronidase by inujured
heptocytes and bacteria. This enzyme hydrolyzes bilirubin glucuronides to unconjugated bilirubin.
40. Myoglobin …………………...the p50 of HB (tetrameric structure) is 26mmhg, while the p50 of
myoglobin (monomeric structure) is 1mmhg, which indicates that myoglobin has higher affinity for
o2 then Hb. It also show that instead of sigmoid shape curve of HBA , the myoglobin represent the
hyperbolic curve due to not experiencing heme-heme interactions bcz of momoeric/single heme group
41. Pyridoxine (vit b6) ………………….is necessary for transamination and decarboxylation of AA
for gluconeogenesis and for other biochemical processes. Transamination reaction typically occur
between AA and ketoacids. The aminio group is transferred from AA to keto group, and the alpha
ketoacid therefore become AA. Eg:…..glutamate(AA) react with oxaloaccetate( alpha-ketoacid) to
form aspartate ( resulting AA) and alpha-ketoglutarate( the resulting keto acid ).
42. Substrate for gluconeogenesis ……………in insulin deficiency the hormone sensitive lipase
becomes active and cause break sown of TG to glycerol and FFA. Glycerol in liver is converted by
glycerol kinase to glycerol 3-po4. Glycerol 3-po4 is then converted to DHAP by glycerol 3-po4-
dehydrogenase which can be used to produce glucose via gluconeogenesis
43. Alanine…………major AA responsible for transferring nitrogen to liver for disposal. During the
catabolism of protein, alanine in produced which transfer its amino group to alpha-ketogultarate
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forming glutamate. Glutamate is processed in the liver to form urea, the primary disposal of nitrogen
in humans.
44. Hartnup disease………….AR disorder due to inactivating mutation in neutral AA transporter
(tryptophan) in proximal renal tubular cells and on enterocytes, leading to aminoaciduria and
decrease absorption from gut. Thus decrease tryptophan lead to less niacin. Patient comes with
pallegra like symoptoms. Diagnosis can be confirmed by detection of excessive neutral AA in urine.
Treatment with niacin and protein diet.
45. RMP …………………..high K efflux and some Na influx are responsible for the value of RMP, which is
typically around -70mv
46. Alkaptonuira ………………congenital deficiency of homegentisate oxidase in the degradative
pathway of tyrosine to fumarate, which means that homegentisic acid can’t be converted to fumarate.
This will cause accumulation of homegentisic acid that binds with collagen, leading to ochronosis
(bluish-black connective tissue, ear cartilage and sclera and urine turend black on prolong exposure
to air.
47. Urea cycle disorders…………………ornithine transport into mitochondria is necessary for proper
working of urea cycle, which is the major pathway for removal of nitrogen generated by excess break
down of AA. Urea cycle defect causing accumulation of ammonia, leading to neurological changes.
Treatment is dietry restriction on proteins or medication (phenylacetate) can also work.
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48. FISH…………………can identify specific chromosomal translocation, duplication or deletion using
a ss complementary DNA segment that is tagged with radio tracer. FISH is rapid, highly sensitive and
specific and can be used on tissue with low mitotic rates.
49. Lesch-Nyhan syndrome……………defective purine salvage due to absent HGPRT enzyme, leading
to increased degradation of hypoxantine and guanine to uric acid. This increases the demand of DE
novo purine synthesis, which should be accomplished by increasing PRPP aminotransferase activity that
cause conversion of PRPP to 5-phosphoribosymamine which can be then converted to IMP, AMP &
GMP. Patient presents with intellectual diability , self-mutilation , aggression , hyperurecemia ,
dystonia and macrocytosis
50. LDH deficiency and exercise…………..during glycolysis, glyceraldehyde 3-po4 is converted to 1.3
biophospho glycertae. This enzyme reduces NAD to NADH. NAD is present in limited amount in most
cells and it must be regenerated in order to continue glycolysis. In anaerobic condition (exercise),
pyruvate generated via glycolysis is converted to lactate via LDH, generating NAD, which can be used
for glycolysis. In patient with LDH deficiency, glycolysis is inhibited in exercising muscle as muscle
cell won’t be able to generate NAD.
51. Fabrys disease……………. deficiency of alpha-galactosidase A, lead to accumulation of ceramide
trihexoside . Present with triad of peripheral neuropathy, angiokeratoma and hypohidrosis.
Complications include……. progressive renal failure, LVH and TIA/STROKE
52. Maturity onset diabeties of young (MODY)………Glucose enter pancreatic B cell via GLUT-2
transporter and it is metabolized to G-6-PO4 via glucokinase enzyme. It then enters the glycolysis
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and generate ATP. Increase ATP cause closure of ATP sensitive K channels. Depolarization of beta
cells triggers opening of voltage gated Ca channels and thus influx of Ca cause insulin release.
Glucokinase serve as glucose sensor of beta cells in controlling insulin release. Mutation in
glucokinase results in condition in which higher glucose is required for secretion of insulin, leading
to maturity onset diabetes in young.
53. Riboflavin …………is the precursor of coenzyme FMN/FAD. FAD participates in TCA and ETC by
acting as an electron acceptors of succinate dehydrogenase, which convert succinate to fumarate.
54. Niacin……………is precursor of NAD/NADP, two important co factors for many dehydrogenase (
isocitrate dehydrogenase ) and reductase enzymes.
55. Heme oxygease………………. convert heme to bilivirdin, a pigment that cause the greenish color to
develop in bruises several days after injury.
56. G6PD……………enzymes responsible for the major source NADPH in HMP pathway. The NADPH
generated can be used for reducing glutathione and biosynthesis of cholesterol, FA and steroids.
57. Elastin …………….is rich in non-hydroxylated proline, lysine and glycine residue VS the
hydroxylated residue of collagen. Synthesis pathway is same like collagen
58. ARGINASE DEFICIENCY………………….. is a urea cycle enzyme that produces urea and ornithine
from arginine?.Deficiency lead to progressive spastic diplegia, growth delay, and abnormal
movements, Treatment includes an Arg-free, low protein diet
59. Acute intermittent porphyria ……………………autosomal dominant condition that cause
neurologic symptoms ( tingling, difficulty concentrating ) and nonspecific abdominal pain. Attacks are
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due to accumulation of porphobilinogen and aminolevulunic acid due to PBG deaminase deficiency
combined with ALA synthase induction (typically due to certain medications, alcohol use, or a
low-calorie diet). Management with glucose or hemin, that inhibits ( down regulate ) ALA synthase
( rate limiting step in heme synthesis ) activity
60. Acidosis ……………….stimulate renal ammoniagenesis , a process by which renal tubular epithelial
cells metabolize glutamine to glutamate, generating ammonium that is excreted in urine and HC03
that is absorbed in blood. This process is responsible for vast majority of renal acid excretion in
chronic acidotic state.
61. Porphyria cutanea tarda…….deficiency of uroporphyrinogen decarboxylase enzyme is the heme
synthesis pathway, lead to accumulation of uroporphyrin. Present with blistering cutaneous
photosensitivity and hyperpigmentation. It is aggravated by alcohol consumption. Treatment is
phlebotomy, sun avoidance and anti-malarial ( hydroxychloroquine)
62. 2,3BPG…………….it is produced from 1,3BPG by the enzyme phosphoglycerate mutase. This
reaction by pass ATP generating step in glycolysis, causing no net gain in ATP
63. Fructose ……………. dietary fructose is phosphorylated in the liver to F-1-PO4 and is rapidly
metabolized because it by passes the PFK-1, a rate limiting step in glycolysis. Other sugars like
galactose, glucose and mannose enter glycolysis prior to PFK-1 and as result are metabolized slowly
64. FA oxidation…………in well feed state,the abundance of ATP in hepatocytes inhibit isocitrate
dehydrogenase, leading to accumulation of citrate in the mitochondaria. Citrate is then transferred to
cytosol via citrate shuttle and cleaved by ATP-citrate lyase to form acetyl coA. Also high citrate level
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cause upregulation of acetyl coA carboxylase which cause conversion of acetyl coA to malonyl coA (FA
synthesis). B-oxidation of FA occur in mitochondria and as FA are impermeable due to negative
charge so they use carnitne shuttle. Malaonyl coA inhibit carnitineacyl transferase ,prventing the
transfer of acyl group to mitochondaria .This inhibit the further breakdown of newly synthesized FA
65. Isonazoid…………..inhibit the enzyme pyridoxine phosphokinase ,which normally convert
pyridoxine to its active from pyridoxil 5-po4. Pyridoxine is a cofactor for gamma aminolevulunic
acid synthase, the enzyme that catalyze the rate limiting step in heme synthesis. Deficieny of
pyridoxine can lead to sideroblastic anemia (ringed sideroblast that can be seen on Prussian blue stain
BM aspirate.
66. Phenylethanolamine-N-methytransferase………………. responsible for conversion of NE to
epinephrine
67. Ketone bodies…………………..during prolong fasting ketone bodies are produced in liver and can be
used as an energy source in the mitochondria `of peripheral tissues. Muscle , renal cortex and brain
use ketone body but erythrocyte can’t use it because of lack of mitochondria,
68. Mitochondria……………B-oxidation of FA, TCA cycle, and carboxylation of pyruvate(
gluconeogenesis) occur in mitochondria
69. Cytosol…………..FA synthesis , glycolysis and HMP shunt occur in cytosol
70. mcArdle disease…………………deficiency of myophosphyrylase, which lead to decrease break
down of glycogen during exercise, resulting in poor exercise tolerance, muscle cramps and
rhabdomyolysis
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71. Free ribosomes…………remain floating in the cytosol throughout protein synthesis. They are
responsible for translating protein found within cytosol, nucleosol, peroxisome matrix and nuclear
enbounded mitochondrial protein
72. Attached ribosomes………….binds to RER after translation begins. They are responsible for
synthesis of secretory proteins, the integral membrane protein of nucleus and cell membrane and
protein with ER, golgi network and lysosomes.
73. Primase………….it is a DNA dependent RNA polymerase that incorporate short RNA primers in to
replicating DNA
74. Protein targeting……………is the process by which protein with different intra and extracellular
fates reach their destination. Protein destined for lysosome require phosphorylation of specific
mannose residue to ensure proper transit through the Golgi apparatus.
75. Biotin……………….is required as cofactor for pyruvate carboxylase ( cause conversion of puruvate
to OAA………gluconeogenesis), Acetyl coA carboxylase ( cause conversion of Acetyl coA to Malonyl
coA……..FA synthesis), propionyl coA carboxylase ( cause conversion of propionyl coA to methy
malonyl coA………fatty acid oxidation)
76. Zinc finger motifs …………………composed of chains of AA bound together around zinc atom via
linkages with cystidine and Histidine residues. They recognize specific DNA sequences and are used
by many transcription factors to bind DNA and alter activity of target genes. Intracellular receptors
that bind steroids, thyroid hormone, and fat soluble-vitamins act directly as transcription factors and
contain zinc finger binding domains
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77. Primary carnitine deficiency…………...impairs FA transport as acyl-carnitine (carnitine shuttle)
from cytoplasm to mitochondria. The mitochondria therefore can’t do B-oxidation of LCFA to acetyl
coA, the carbon substrate for TCA. Thus cardiac and skeletal muscle cannot generate ATP from FA,
leading to muscle weakness, cardiomyopathy and the liver is unable to synthesize ketone bodies(
manifest as hypoketotic hypoglycemia
78. Amino acid change in HbS………………….Val to Glutamic acid at 6th AA of beta global chain,
promotes hydrophobic interaction among Hb molecules and results in HBS polymerization and
erythrocyte sickling
79. Amino acid change in HbC…………….glutamate to lysine. Because lysine is + charged there is no
hydrophobic interaction between HB molecules and no polymerization/sickling. However, these
positive charge of lysine cause HbC to have decreased mobility on electrophoresis.
80. G-protein coupled receptors………………bind glycoprotein hormone (TSH, LH, FSH) contain 3
major domains. Extracellular domain………responsible for ligand binding, Transmembrane domain,
and an intracellular domain coupled with heterotrimeric G protein. The transmembrane domain
is composed of alpha helices with hydrophobic AA residue(ALANINE, VALINE,
LEUCINE,PHENYLALANINE, TRYPHTOPHAN, PROLINE, GLYCINE) , which help to anchor the protein to
the phospholipid bilayer of cell membrane.
81.Glycogen degradation……………glycogen stored in liver is used to provide energy or glucose during
the period of fasting whereas glycogen stored In muscle provide energy during muscle contraction.
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In liver, glycogen phosphorylase is activated via binding of epinephrine and glucagon to Gs-coupled
receptors, which increase cAMP concentration and cause phosphorylation of glycogen phosphorylase.
As skeletal muscle lack glucagon receptors, still to some extent can be phosphorylated in response to
epinephrine mediated raise in cAMP concentration. However, intracellular Ca is more powerful
activator of muscle PK. Ca is released from sarcoplasmic reticulum following neuromuscular
stimulation
82. Propionic acedemia…………………. deficiency of propionyl-CoA carboxylase which lead to
elevated level of propionyl-CoA. As a result, excess propionic acid builds up in the blood , leading to
sever metabolic acidosis, leading to ketosis and hypoglycemia. As (Valine, Odd-chain FA,
Methionine, Isoleuucine, Threonine……….VOMIT) metabolize to propionyl-C0A, they should be
avoided in diet
83. Methymalonic acid academia……………is an organic academia due to deficiency of
methymalonyl-coA-mutase enzyme, which lead to build up of methymalonic and propionic acid,
leading to metabolic acidosis. Hypoglycemia result from overall increase in metabolic rate which cause
the formation of ketone bodies to compensate, leading to excess ketone bodies formation. Finally
organic acids buildup and inhibit urea cycle,leading to inc ammonia level. Diagnosis is confirmed by
increase urinary methylmalonic acid and propionic acids.
84. Familial erythrocytosis ………………….due to B-glolbin mutation resulting in reduced binding of
2,3BPG. 2,3BPG binds strongly to deoxy-Hb in a pocket form between the 2 Beta chains. The Hb
2,3BPG binding pockets contain positively charged AA (histidine, lysine) that attract the negatively
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charged PO4 group in 2,3BPG. This binding reduces the O2 affinity of HB allowing more O2 to diffuse
in to tissues. Mutation that decrease positive charge of the binding sites cause HB A to resemble HBF,
which binds o2 with a higher affinity due to its inability to interact with 2,3BPG.
85. Gluconeogenesis ……………..during gluconeogeenesisis, OAA is converted to phosphoenol
puruvate by enzyme PEP carboxylase which requires GTP as co factor. This cofactor comes from TCA
cycle where succinyl coA is converted to Succinate by succinyl-coA synthetase ,generating GTP
86. Stress hyperglycemia………………. transiently elevated blood glucose level in the context of fever
illness( sepsis, burn , hemorrhage) in patients without existing DM. Cortisol and epinipheren release
in stress leading to glycogenolysis and gluconeogenesis
87. The speed of HB movement during gel electrophoresis is …………HBA>HBS>HBC
88. OROTIC ACIDURIA …………..is due to defect in uridine 5, mono-po4 synthase enzyme so that
orotic acid cannot be converted to UMP. Patient present with large amount of orotic acid in urine
along with megaloblastic anemia due to defect in DNA syntheses, without defect in replication, leading
to large red cells. Treat these patients with URIDINE to bypass the step bcz uridine can be converted
to UMP via nucleoside kinases. Done confuse this with ornithine transcarbamylase deficiency in
which along with high orotic acid an increase ammonia level will be present
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89.
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DERMATOLOGY NOTES (FROM
UWORLD)
SORRY FOR SPELLING MISTAKES
1. Epidermolysis bullosa………………………group of inherited disorders characterized by epithelial fragility
(bullae, erosion, ulcers) triggered by minor trauma. It is caused by mutations affecting proteins in the
intraepidermal and dermoepidermal adhesions complex (most commonly mutation in keratin genes that
impair the assembly of keratin in to filaments). It presents early in life with friction induced blisters at
palm/soles/other exposed areas. Infant with EB may develop oral blisters with oral feeding.
2. Pathogenesis of acne ………………...1. hyper keratinization leading to keratin plug formation in to
pilosebacious follicles. These blocked follicles are referred to as comedones (whithead/blackheads). 2. In
response to androgen stimulation, sebaceous glands enlarge (not involute) and increases production of
sebum, a lipid rich substance that facilitates obstruction of pilosebacious follicles. 3. Cutibacteriium, an-
aerobic bacterium that relies on sebum for growth, proliferate in occluded follicles, triggering inflammatory
response that result in red papules/pustules characteristic of nodulocystic acne
3. Seborrheic keratosis ………………. Due to activating mutation in FGFR-3. Pigmented macules/plagues with
greasy surface and well demarcated borders. Due to proliferation of immature keratinocytes with
keratin filled cysts. Looks STUCK On. Rapid onset of numerous lesion is indicator of internal malignancy
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(lesser-trelat sign), especially gastric adenocarcinoma.
4. Melanoma…………………....it is a malignancy of melanocytes which is of neural crest cell origin. Clinical
features are 1. Asymmetry, 2. Border irregularities, 3. Color variegation, 4. >6mm diameter, 5. Evolving,
lesion changing in size, shape, color. Commonly spread to brain, liver, lungs. It has an early horizontal
growth phase with low metastatic potential, followed by nodular vertical growth phase with significantly
increased risk for metastasis. The different color represents different activities in tumor. Whitish gray area
occurs due to cytotoxic T-cells recognize tumor antigen and destroy malignant cells, leading to
melanocyte regression. Raised area due to vessel ectasia and inflammation whereas brown and black area
are due to advancing malignant melanocyte
DR-KHAN (YASIR) 2
UWORLD)
5. Allergic contact dermatitis………………a type 4 hypersensitivity reaction (delayed type). In the
sensitization phase, cutaneous Langerhans cells take hapten (allergens) and present them to naïve
CD4/CD8-T cells in the regional lymph nodes, resulting in clonal expansion of hapten-sensitive T cells. This
phase takes 10-14 days and doesn’t result in any cutaneous lesion. On re exposure to hapten, Cutaneous
antigen presenting cells present the hapten to sensitized T cells, which mediate tissue damage and
manifest as pruritic erythema, vesicles, or bullae around 2-3 days after exposure. Histology shows,
Spongiosis which is an accumulation of edema fluid in the intracellular spaces of epidermis. With chronic
exposure lesion show thickening of stratum corneum and spinousm
6. Psoriasis ………………. characterized by activation of helper T-cells and proliferation of keratinocytes.
Epidermal hyperplasia (acanthosis) produce erythematous plagues, hyperkeratosis (thickening of stratum
corneum ) , parakeratosis ( retention of nuclei in stratum corneum ) of the stratum corneum produce the
DR-KHAN (YASIR) 3
UWORLD)
characteristic scaling and munro microabcesses ( neutrophilic foci in the stratum corneum and epidermis ).
Removal of the scaling produce pinpoint bleeding (Auspitz sign). First line treatment includes
corticosteroid and vitamin D analogs (calcipotriene). Vitamin d analogue activate the vitamin d
receptors, resulting in inhibition of keratinocyte proliferation and T-cells. Complications include, psoriatic
arthritis, nail changes ( pitting, thickening , crumbling ), eye disorder ( uveitis, conjunctivitis , blepharitis )
7. Androgenic alopecia……………………. driven by both inherited (polygenic) and hormonal factors). DHT is
the primary hormone responsible for hair loss. It presents with progressive hair loss at the vertex,
temples and frontal hair lines. It is characterized by shortened androgen hair growth phase, leading to
shorter, thinner hair shafts (follicular miniaturization) with increased apoptosis at dermal papillae.
DR-KHAN (YASIR) 4
UWORLD)
Treatment is with 5-alpha reductase inhibitor (Finasteride), which decrease conversion of Testosterone to
DHT and diverting increased testosterone to be converted to estrogen vie aromatase enzymes leading to
mild feminizing effects
8. Langerhans cells…………………. are dendritic cells found in the skin that act as professional APC (express
MHC-2 and B7). These cells are derived from myeloid cell line and they possess characteristics racquet-
shaped intracytoplasmic granules known as birbeck granules r
9. Erythema multiform …………………a cell mediated inflammatory disorder of skin characterized by
erythematous papules that evolve in to target lesions (look like target with multiple rings and dusky center
showing epithelial disruption. Most commonly associated with HSV although drugs like sulfa drugs, B-
lactams and phenytoin can also induce it. Mycoplasma pneumonia also associated with it .
DR-KHAN (YASIR) 5
UWORLD)
10. Accessory nipple (supernumerary nipple) ……………………. due to failure of involution of mammary
ridge. Usually asymptomatic but may become tender or swell before/during menses, lactation or
pregnancy. Findings include: hyperpigmentation epidermal thickening
11. Melanoma ………………………. BRAF is a protein kinase involved in the signaling pathways of the melanocyte
proliferation. BRAF mutation V600E (valine- glutamic acid) seen in 40-60% of melanoma patients, leading
to increased activation of signaling pathway for melanocyte growth, survival and metastasis. Vemurafinab,
a potent inhibitor of mutated BRAF has significant antitumor effect with improved survival in V600E
positive melanoma patients. Diagnosis is generally made when histopathology shows cellular atypia with
cell containing brown pigment (melanin granules), immunostaining for melanocyte markers (S-100, HMB-
45) is generally positive
DR-KHAN (YASIR) 6
UWORLD)
12. Atopic dermatitis…………………chronic inflammatory skin disorder due to mutation affecting skin barrier
proteins such as filaggrin, resulting in impairment of skins barrier function. This increase immune response
to environmental allergens. Affected patients has elevated igE levels and peripheral eosinophilia. Children
with AD has a FHx and are at risk of other atopic disease such as allergic rhinitis and asthma (allergic
triad). In infants/young children the face, scalp, trunk and extensor surface are affected whereas in adults
it occurs in flexural distribution like neck, wrist, antecubital and popliteal fossae
13. Ichthyosis vulgaris ……………………...is an inherited disorder due to mutation in filaggrin gene. This
result in epidermal hyperplasia and defective keratinocyte desquamation, leading to accumulation of
dry, scaly skin with loss of normal barrier function. It usually affects the extensor surfaces of extremities
(legs) with sparing of flexures and face. Palmer hyper linearity is also common finding
14. Bullous impetigo ………………. superficial skin infection in younger children due to S. aerous. It is
characterized by blistering skin rash with tan-honey colored crusts. The blistering is caused by
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UWORLD)
exfoliative toxin-A, which target desmoglein in epidermal cellular junction and cause loss of cellular
adhesion.
15. Urticaria…………………transient hypersensitivity disorder characterized by pruritic erythematous plague
(wheals) that arise suddenly and resolve over hours. They are most commonly caused by igA mediated
degranulation of mast cells, leading to increased permeability of microvasculature with edema of the
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UWORLD)
superficial dermis
16. Lichen planus ……………………………………. presents with pruritic, purple/pink, polygonal papules and
plagues that can affect the flexural surface of wrist/ankles, along with nails, oral mucous membranes and
gentelia. Histology finding include hyperkeratosis (thickening of stratum corneum), hypergranulosis
(prominent granular layer), lymphocytic infiltrate at dermal-epidermal junction, saw tooth rete ridges
and scattered eosinophilic colloid bodies. Associated with Hepatitis C.
17. Imiquiomid ……………………...topical immunomodulatory drug that has antiviral and anti-proliferative
effect, mediated via activation of toll-receptor 7, which upregulates the transcription factor nuclear
factor-kappa B. Nuclear factor kappa-B then initiate an immune response involving NK-cells, cytotoxic T-
DR-KHAN (YASIR) 9
UWORLD)
cells and helper-TH1cellls, resulting in increased cytokine production ( IL-1,12,gamma) and enhance
immune mediated killing of aberrant cells .It also cause induction of apoptosis in cancer cells via
activation of caspases and inhibition of BCL-2 and also inhibit angiogenesis. It is used for anogential
warts (HPV), superficial basal cell carcinoma and actinic keratosis
18. Granulation tissue …………………….it is induced by VEGF that is essential for normal wound healing.
However, if this tissue proliferation become excessive, the resulting hyper granulation will impair wound
reepithelization and remodeling
19. Photo aging………………...occur due to excess exposure to UVA wavelength and is characterized by
epidermal atrophy with flattening of ret ridges. Also there is decrease collagen fibril production and
increase degradation of elastin and collagen in the dermis
20. Keloid ………………………result from excessive collagen production during the remodeling phase of wound
healing. Normally wound contraction is the normal process in proliferative phase of wound healing which is
mediated by TGFB, that promote differentiation of fibroblast in to myelofibroblast and should be
diminished on completion of wound repair. In keloid, TGF is produced excessively without checking,
resulting in keloid that extend beyond the border of original wound. They arise after minor trauma 9 ear
piercing) and can be raised, pruritic and painful
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UWORLD)
21. Local cutaneous adverse effect of steroid …………………………patient treated with steroids for atopic
dermatitis show atrophy/thinning of the dermis that is associated with loss of collagen, drying, cracking
and tightening of skin and also telangiectasia’s and ecchymosis
22. Tinea corporis………………………...present as annular scaling plague with well demarcated, raised
erythematous borders with central clearing. Treatment is terbinafine which inhibit synthesis of fungal
ergosterol by inhibiting the enzymes squalene peroxidase
23. Granulomatous inflammation………………………….is characterized by aggregates of activated
macrophages that assume an epithelioid appearance. Foreign bodies (retained sutures) can also elect a
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UWORLD)
granulomatous response, seen clinically as tender erythematous, brown/purple papule/nodule/plague.
24. Junctional nevi…………………. aggregates off nevus cell limited to dermoepidermal junction. Appear as
flat, black-brown pigmented macules with dark coloration in center than in periphery and preserved skin
markings.
25. Compound nevi………………. aggregates of nevus cells extend to dermis. Appear as raised papules
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UWORLD)
26. Intradermal nevi………………. consider as older lesion in which epidermal nests of nevus cells have
been lost. The remaining dermal nevus cells lose tyrosinase activity and produce little or no pigment.
27. Wound healing in diabetes …………………...elevated blood glucose level cause release of ROS and pro
inflammatory cytokines from neutrophils while inhibiting the production of anti-inflammatory cytokine
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UWORLD)
(IL-10) and growth factors needed for fibroblast proliferation and re-epithelization in a wound healing. As a
result, patient with uncontrolled DM have non healing wounds with evidence of ongoing inflammation
28. Kaposi sarcoma …………………………blue violet or brownish skin plagues on the extremities and mucous
membrane of HIV positive patients. This tumor arises from primitive mesenchymal cells and is strongly
associated with HHV-8
DR-KHAN (YASIR) 14
UWORLD)
29. Lepromin skin test …………………………. positive in patient with tuberculoid leprosy as they exhibit a strong
CD4 TH1 cell-mediated immune response to mycobacterium leprae. Patient with lepromatous leprosy will
test negative due to their weak TH1 cell mediated immune response
30. Angiosarcoma………………………...axillary lymph node dissection is the risk factor for development of
chronic lymphedema involving the ipsilateral arm. Chronic lymphedema predisposes to development of
angiosarcoma
31. Glomous tumor (glomangioma) …………………. can produce very tender, small, red-blue lesion under the
nail bed. This type of tumor originates from modified smooth muscle cells that control the
thermoregulatory functions of dermal glomus bodies
32. Cherry hemangioma………………………...small red, cutaneous papules common in aging adults. They do not
regress spontaneously and increase in number with age. Light microscopy show proliferation of
capillaries and post capillary venules in the papillary dermis. Strawberry hemangioma (infantile or
capillary) is neoplastic proliferation of endothelial cells and appears during first week of life, days or
weeks after birth . They grow rapidly and then regress
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UWORLD)
33. Opioids/radiocontrast agents/vancomycin………………………...trigger IgE independent mast cell
degranulation
34. Actinic keratosis ………………………small erythematous epidermal lesions with adherent scale that result
from chronic sun exposure. Histologic finding includes keratinocyte atypia, hyperkeratosis and
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UWORLD)
parakeratosis. It poses risk for development of squamous cell carcinoma
35. Acanthosis nigriicans…………………present with thickening and hyperpigmentation of skin on flexural
areas. The lesions have classical velocity structure and associated with insulin resistance and GI malignancy
DR-KHAN (YASIR) 17
UWORLD)
36. Ecchymosis…………………………. frequently indicate a deep hemorrhage due to bony fracture, ligament
fracture or muscular injury. They do not blanch with pressure as the red blood cell are not contained
within vasculature. It often passes through evolution of color change (blue/red to brown, green, and
yellow), which can be used to estimate the age of injury
37. Verruca vulgaris (cutaneous warts) ……………………. are caused by human papilloma virus and present as
rough skin-colored papules. Biopsy show epidermal hyperplasia, thickened stratum corneum, papilloma
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UWORLD)
formation and cytoplasmic vacuolization (koilocytosis)
38. Dermatitis herpetiformis…………………………erythematous pruritic papules, vesicles and bullae that
appears symmetrically on extensor surface (elbow/knee). Strongly associated with CELIAC DISEASE, a
disorder characterized histologically by small intestinal intraepithelial lymphocytosis, crypt hyperplasia and
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UWORLD)
villous atrophy
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UWORLD)
39.
40. Skin changes associated with ionizing radiation…………………………. Acute (<90 days after radiation)
include: apoptosis of basal keratinocyte and epidermal edema, erythema/desquamation, superficial
ulceration, blistering, pigment changes and loss of skin appendages (hair follicles, sebaceous glands).
Chronic (months/year after radiation) include: fibrosis which is characterized histologically by
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UWORLD)
homogenization of dermal collagen due to fibroblast activation by TGF and abnormal dilated
microvasculature (telangiectasia)
DR-KHAN (YASIR) 22
ETHICS POINTS (FROM
UWORLD AND FA)
1. Confronting an angry patient ………………………………the physician should use non defensive, empathic approach that
acknowledges the patient anger and attempt to explore the patient underlying concerns.
2. Intern and physician ………………………intern should not blindly follow the order of attending physician when there is
concern about patient safety and care. It means that physician is ethically obligated to question orders that raise
concern about potential harm to patients. Issue should initially be discussed directly with the physician who made
the order and not involve ancillary staff
3. Deaf……………. deaf and hard of hearing patients should be offered the service of an interpreter trained in medical
translation and American sign language, subject to patient preference and consent. Alternate moods of
communication include computer assisted real time transcription and assistive listening devices. Many deaf
individuals learn lip reading and expressive gesture to communicate. However, these methods are subject to error
and should not be relied on as primary communication modality in health care
4. Responding to request for antibiotic that is not necessary for the disease (viral infection) …………………...physician
should use the patient centered approach that validates the patient concern, educate the patient about the
adverse effect of antibiotic and their lack of efficacy in treating viral infection and provide options to treat the
patient symptomatically
5. Transition from inpatient to outpatient …………………. a discharge checklist detailing medication changes and follow
up appointments can significantly facilitate a patient transition from the hospital and improve adherence to
outpatient treatment. This can lower the risk of early rehospitalization
6. Overutilization……………………...refers to provision of service that are not expected to improve patient outcomes
DR-KHAN (YASIR) 1
ETHICS POINTS (FROM
UWORLD AND FA)
7. Low literacy…………………. can be significant barrier to appropriate treatment and may be difficult to identify. For
patient with suspected low literacy, alternative methods of communication (visual resources) should be used to
improve understanding
8. Sexual history …………………. first acquire the gender of sexual partners then the type of sex (anal, vaginal, oral). This
topic may be uncomfortable for both physicians and patient and the best approach would be to tell the patient that
sexually history is something u ask ur every patient
9. Root cause analysis…………………is a quality improvement measure that identify how, what and why a preventable
side effect has occurred. The first step involved collecting data mainly through intervening multiple individuals
involved in the steps leading to the outcome
10. Interventions that require physician to report impaired collegue………………….in non-emergency situation, the
person should contact the physician health program or if this is not possible then the state licensing board should be
notified
11. Misconception regarding medical conditions……………………. the initial step in counselling the patients and surrogate
decision maker regarding treatment refusal is to calmly probe their misunderstanding of the disease process
12. Error in drug dosing ……………………. physician should avoid abbreviations and trailing zeros in medication order in
order to reduce the incidence of medication errors
13. Risk of wrong site surgery……………………. can be reduced by requiring dual identifiers (nurse/physician) to
independently confirm that they have the correct patient, site and procedure. Checks must be independent to
ensure patient safety
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ETHICS POINTS (FROM
UWORLD AND FA)
14. When there is one medically reasonable treatment option ………………………that has clearly superior evidence based
support, it is ethically appropriate for the physician to provide directive counselling, in which only a single treatment
option is recommended to the patient
15. A romantic or sexual relationship between a physician and a current patient………………………………….. is always
considered unethical due to potential exploitation and/or interference with the physician's objective clinical
judgment. Such a relationship may be ethically acceptable provided the physician-patient relationship is terminated
well before initiating a personal relationship. However, it would also be inappropriate to suggest termination of the
physician-patient relationship solely for the purposes of dating, as physician-patient continuity is associated with
better patient outcomes; furthermore, the patient should not be forced to choose between having the physician be
a treatment provider or a romantic partner
16. The Emergency Medical Treatment and Active Labor Act (EMTALA) was enacted…………………….. by Congress to
prevent hospitals from inappropriately transferring, discharging, or refusing to treat indigent patients. All patients
who present to the emergency department must receive an appropriate screening medical exam and stabilization
of their condition, regardless of ability to pay.
17. Patients who refuse medical interventions…………………………….. must be assessed for decision-making
capacity. Patients with decision-making capacity have the right to refuse treatment.
18. Responding to requests for inappropriate antibiotics ………………………..involves a patient-centered approach that
validates the patient's concerns, educates the patient about the adverse effects of antibiotics and their lack of
efficacy in treating viral infections, and provides options to treat the patient symptomatically.
19. Directive counselling…………………………. Most medical decisions are made via shared decision-making, in which the
patient's preferences and personal values are considered when discussing ≥2 medically reasonable treatment
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ETHICS POINTS (FROM
UWORLD AND FA)
options. However, when there is only 1 medically reasonable treatment option that has clearly superior evidence-
based support, it is ethically appropriate for the physician to provide directive counseling, in which only a single
treatment option is recommended to a patient.
20. Capitation …………………..An arrangement in which a payer (individual, employer, or government entity) pays a fixed,
predetermined fee per patient to cover all required medical services is termed capitation. Capitation is the
payment structure underlying health maintenance organization (HMO) provider networks.
21. Global payment………………….. is an arrangement in which an insurer pays a provider a single payment to cover all
the expenses associated with an incident of care. This is most commonly done for elective surgeries as well as
necessary for pre and post-operative visits
22. Patient confidentiality…………………………It is unethical to discuss any information regarding a patient's diagnosis
and treatment with another individual, including a physician who is not involved in the patient's care. Likewise,
the physician should neither confirm nor deny whether the person of interest is, in fact, a patient.
23. Informed consent……………………….is a complex medico legal process that varies slightly across jurisdiction and setting
(eg, a clinical versus research setting). Informed consent is generally considered to contain 4 primary elements:
disclosure, understanding, voluntariness, and authorization. Disclosure involves providing the patient with
information about their medical condition, the proposed medical intervention (eg, experimental drug), and the
potential risks and benefits of accepting or declining the proposed intervention. For a consent to be valid, a subject
must possess decision-making capacity, and the research coordinator must confirm understanding of the disclosed
information. Informed consent must be voluntarily given and be free from any forces of coercion or manipulation.
24. Informed consent……………. informed consent (IC) should be obtained by the attending physician performing the
procedure, who can best explain the procedure and answer any questions. If IC is delegated to another provider on
DR-KHAN (YASIR) 4
ETHICS POINTS (FROM
UWORLD AND FA)
the care team, the team member must thoroughly understand the procedure and be able to answer the patient's
questions.
25. Consent…………………Patients have the right to withdraw consent for a procedure at any time. When patients
change their minds and refuse treatment, it is the physician's responsibility to engage them in a new discussion of
informed consent or informed refusal.
26. Root cause analysis ……………aims to identify WHY, HOW, and WHAT undesirable effects has ocured (retrospective
approach). For addressing, the first step involves collecting data mainly through interviewing multiple individuals
involved in the steps leading to the outcome. After that further steps can be taken to prevent the recurance
27. Overutilization…………………………….. refers to provision of services that are not expected to improve patient
outcomes or meaningfully change management. Patient–centered health care requires care to be delivered with
respect to patients' concerns, preferences, and priorities, but does not require unnecessary testing or treatment if
patient input is otherwise solicited and respected when appropriate.
28. Nonmaleficence………………..Patients have the right to make decisions about their health care. However, based on
the principle of nonmaleficence, the prescription of medications likely to do more harm than good should be
avoided, even if requested by patients.
29. Talking to adolescents………………………In situations in which a parent's presence may interfere with obtaining honest
answers from an adolescent patient, physicians should politely ask the parent to wait outside and interview the
patient privately. All adolescent visits should include an opportunity to interview the patient alone to discuss
topics such as drugs, alcohol, tobacco, and sexual activity.
DR-KHAN (YASIR) 5
ETHICS POINTS (FROM
UWORLD AND FA)
30. Initial encounters with new patients…………………………..it often set the tone for the physician-patient
relationship. When in doubt about how to address patients, the physician should ask them their preferred form of
address.
31. Medication related falls in elderly…………………Falls are a common problem in elderly nursing home
patients. Optimal management includes a careful medication review with the goal of limiting the use of agents
associated with increased fall risk. Assistive devices such as canes and walkers are often used to improve mobility in
patients with gait or balance disturbances. However, there is a lack of evidence regarding their efficacy in
preventing falls (they may impair compensatory stepping reactions that help with balance recovery).
DR-KHAN (YASIR) 6
GENERAL PATHOLOGY POINTS
(FROM UWORLD)
1. Retinoblastoma gene ……………………HPV viral protein E6 bind to p53, a tumor suppressor protein that
normally inhibit the proliferation of cells with genetic abnormalities. Ubiquitination of E6-P53 complex
induce degradation of p53, leading to unchecked growth. Also, HPV viral protein E7 binds to RB protein,
which result in displacement of E2F (a transcription factor that induce cell cycle activation), promoting
unregulated DNA replication and cyclin mediated cell cycling
2. Proto-oncogenes……………………. require gain of function mutation to convert to oncogenes. They typically

encode protein that promote cell division. Only one allele must be damaged to increase risk of cancer
formation. example: KRAS, RET
3. Tumor suppressor gene…………………. require loss of function mutation that leads to unregulated growth.
Example: BRCA1/2, APC, PG3, RB
4. Activation of cellular immune response to viral antigen………………...an essential step is the breakdown of
intracellular viral protein by ubiquitin proteasome pathway. This pathway is initiated by ubiquitin ligase
which recognize specific protein substrates and attach a ubiquitin tag. The target protein is then degraded
by a proteasome in to peptide fragments, which are coupled with major histocompatibility complex class 1
and presented to cell surface for surveillance by cytotoxic CD8 lymphocytes. Cytotoxic T-cell recognize
nonnative (viral protein) on infected cell and trigger apoptosis via activation of caspases through the
release of perforin and granzyme
5. Features of anaplastic tumors …………………...loss of polarity with complete destruction of cell

architecture, variation in shape and size of cell (cellular pleomorphism) and nucleus (nuclear
pleomorphism ), very large nuclei ( high nuclear-cytoplasmic ratio ) with deep staining ( hyperchromatic ),
numerous often abnormal mitotic figures, giant multinucleated tumor cells
6. ANGIOGENSIS …………………. key growth factor that promote angiogenesis in neoplastic and granulation
tissue are VEGF and FGF
DR-KHAN ( YASIR ) 1
(FROM UWORLD)
7. OSTEOBLASTIC LESSION ………………are sclerotic whereas osteolytic lesion suppress osteoblastic activity
and would cause osteolytic lesion
8. In cancer related cachexia ………………. high level of pro inflammatory cytokines (especially TNF-APLHA)
lead to increased ubiquitation of sarcoplasmic protein, which in turn leads to excessive muscle loss
9. RB gene ………………. retinoblastoma is associated with inactivating mutation in RB1 tumor suppressor gene
which normally restrict the cells from passing G1/S checkpoint until the cell is ready to divide
10. Human epidermal growth factor recepto 2 ………………………is a transmembrane glycoprotein

(overexpress Kd GLYCOPROTIEN) with tyrosine kinase activity that acts to increase cell proliferation. It is
normally expressed in breast and ovarian cells and its overexpression in breast cancer is associated with
poorly differentiated, rapidly growing breast cancer
11. LI-fraumani syndrome……………………AD mutation in TP53 that result in sarcoma, leukemia, adrenal and
breast cancer
12. Chronic inflammation …………………is associated with increased pro inflammatory cytokines ( IL-6, IL1,
TNF-ALPHA ), which stimulate the liver to release acute phase reactants ( C-reactive protein, fibrinogen ).
The presence of acute phase reactant increases the ESR, a non-specific marker for inflammation
13. BRCA1/2………………...involved in repair of dsDNA damage
14. EGFR……………………. stimulation lead to downstream activation of KRAS, a membrane bound GTP
binding protein that stimulate cellular growth and proliferation. Many cancers disturb this pathway by
either overexpressing EFGR or its ligand or by developing activating mutation in KRAS proto-oncogene.
Therefore, tumor harboring these mutation are resistant to anti EFGR drugs ( cetuximab ,panitumimab )
15. Nuclear Factor-Kappa-B…………...is a transcription protein with critical role in the immune response to
infection. NF-kB normally present in the cytoplasm in the latent, inactive state bound to inhibitor
protein, IkB. Extracellular substance such as lipopolysaccharide can initiate a signal cascade that result in
destruction of IkB and translocation of free NF-kB to the nucleus
DR-KHAN ( YASIR ) 2
(FROM UWORLD)
16. Dihydrofolate reductase and DNA polymerase ……………………. are enzyme involved in DNA synthesis,
which occur during the S-phase of cell cycle. The RB protein in its active (dephosphorylated state)
regulates cell cycle progression by preventing the transition from G1 – S phase. Phosphorylation of RB
protein deactivate it, allowing cell to progress through the G1-S CHECK POINT and proliferate
17.
DR-KHAN ( YASIR ) 3
(FROM UWORLD)
18.
DR-KHAN ( YASIR ) 4
(FROM UWORLD)
19.
DR-KHAN ( YASIR ) 5
(FROM UWORLD)
20.
DR-KHAN ( YASIR ) 6
(FROM UWORLD)
DR-KHAN ( YASIR ) 7
IMMUNOLOGY POINTS (FROM
UWORLD, AMBOSS AND RX)
Sorry for The Spelling Mistakes
1. Glucocorticoid…………………...reduce the expression of cytokines ( IL-1 & IF gamma)
necessary for granuloma formation . Also it decreases neutrophil migration to the
inflammatory site (Neutrophilia), increases production of anti-inflammatory cytokines(IL-
10) and reduce production of PGs and Lines via inhibition of phospholipase A2.
2. C1 Inhibitor deficiency ………………. can lead to acquired/hereditary angioedema. C1
inhibitor normally prevent activation of C1 complement component, which limit the
cleavage of C2 and C4. This result in limiting rest of the complement activation. It also
blocks kallikerin induced conversion of kinogen to bradykinin. Thus deficiency lead to
increased cleavage of C2 and C4, resulting in inappropriate complement activation and
also cause increase level of bradikinin, a potent vasodilator associated with angioedema.
REMEMBER…… Do not give ACE- to these patients as these drugs will prevent breakdown
of bradykinin to inactive products.
3. Budesonide………………...a glucocorticoid drug that is very specific for crohns disease
because of high topical potency to ileum and less systemic adverse effect due to first pass
metabolism. It bind to cytosolic receptor. The glucocorticoid-cytosolic receptor complex
then translocates to nucleus, bind to relevant DNA region and cause tissue specific
DR-KHAN (YASIR) 1
alteration in transcription. In immune cells, glucocorticoid inhibit transcription factor such
as NF-KB, which reduce expression of cytokines
4. Red man syndrome ……………….…is a non-allergic reaction (Not IGE mediated) which
occur when vancomycin in infused to rapidly. vancomycin directly activate mast cells and
cause release of Histamine, so often develop burning, itching and an erythematous rash
on face and necks
5. Calcineurin……………...in normal T cells once it is activated, it dephosphorylates the
nuclear factor of activated T cell (NFAT). This allow NFAT to enter to nucleus and bind to
IL-2, which stimulates growth and differentiation of T-cells. CYCLOSPORINE and
TACROLIMUS are two more commonly used immunosuppressant in transplant patients.
These inhibit calceneurin activation
6. Mycophentolate……………...immunosuppressive drug that inhibit IMP dehydrogenase in
the de novo purine synthesis pathway. It provides relatively specific suppression of
lymphocyte proliferation. This is because activated lymphocyte lack an established purine
salvage pathway that is present in other hematopoietic cell lines.
7. An anticancer drug that inhibit intracellular enzyme responsible for conversion of
adenosine too ionosine. Accululation of enzyme substrate leads to cell apoptosis.
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Which malignancy is responsive to this drug ?.................................Adenosine
deamainase converts the adenosine/deoxyadenosine to ionosine/deoxyionosine, which
are eventually converted to nontoxic waste products ( Hypoxanthine and uric acid ) that
are excrteted.. ADA deficiency result in metabolism of deoxyadenosine via alternative
pathways in which it is phosphorylated to toxic product deoxyadenosine triPO4. Elevated
level of deoxyadenosine trip04 activates the caspase system and inhibit ribonucleotide
reductase from converting ribonucleotides to deoxyribonucletides , depleting cell of DNA
precursors. Although all human cell contain ADA, developing lymphocytes are among the
most mitotically active cells , thus iinhibition of ADA is highly lymphotoxcic . Therfore
ADA inhibitors ( cladribine ) can be used for lymphocyte derived cancers ( Hairy cell
leukemia ) . chjildren born with mujtation in ADA develop severe combine immuno
deficiency syndrome
8. SCID ………….….. due to defective IL-2R gamma chain ( x linked recesssie ) or ADA
deficiency ( AR) Tx is BM transplant. But retroviral gene therapy is alternative for
patients without HLA match. Retroviral vectors are used to infect patient hematopoetic
stem cells with genetic code for ADA , resulting in production of ADA by all daughter cells
of stem cell
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9. Marker for B-cell…………………….CD10, CD19.20,21
10. Markers for T-cell………….CD 2-8
11. TAP (Transporter associated with antigen processing) …………………...Necessary for
presentation of cytosolic antigens on MHC-1 . Mutation in it lead to bare lymphocyte
syndrome type 1 which can cause granulumatous skin disease and frequent respiratory
infection despite normal lymphocye and immunoglonulin level
12. Germinal center…………site where activated B-cell proliferate and undergo affinity
maturation during generation of humoral imuune response. The formation of multiple
germinal centers is typically marked by lymphadenopathy, pain and inflammation in
the affected lymph node due to cellular recruitment and release of cytokines
13. Monoclonal Ab…………. suffix is mab
14. A receptor molecule …………. suffix is cept
15. Kinase inhibitor …………...suffix is nib
16. Enteracept ……………is TNF ALPHA inhibitor. It is fusion protein which links the TNF-
alpha and IgG Fc. It reduces the biological activvity of TNF alpha by acting asa decoy
receptor
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17. Live attenuated oral polio vaaccine ( sabiin ) ……………produce a stronger mucosal
AND intestinal secretory IgA response then the inactivated poliovirus vaccine ( SALK )
18. Myeloperoxidase ……………neutrophil enzymme that catalyze the production of
hypochlorite( bleach ) from h202 and chloride. A deficiency of this enzyme cause
recurrent fungal infection
19. FAS receptor ………………..Acts to initiate the extrinsic pathway of apoptosis. Mutation in
FAS receptor or ligand prevent apoptosis of autoreactive lymphocyte, thus increasing the
risk of autoimmune disorders like SLE
20. Azathioprine……………...it reduces proliferation of both B and T lymphocyte. The reduce
number of activated T-lymphocyte leads to reduce IL-2 level and the reduce level of B-
lymphocyte leads to reduce immunoglobulin expression
21. Candida antigen skin tests assesses the activity of ___________ mediated immunity
(type ________ hypersensitivity) …………………………T-cell-mediated (CD4 and CD8 T
cells, also macrophages); type IV
22. Candida antigen skin test……………determine the presence of cellular/T-cell mediated
immunity through the detection of delayed type hypersensitivity reaction (TYPE 4 ) . The
key cells involved are macrophages, CD4-helper T-cells, CD8-cytotoxic T-cells.
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Macrophage presents the injected candida antigen to CD4 –helper T-cells . In response
the CD4 helper T-cells recruits CD8 T-cells to the area and produce signs of erythema and
induration. CD4 and CD8 both produce interferon gamma that cause phagocytosis of
candida by macrophages. Failure to generate a response is referred to as anergy , which
is expected to occur in SCID who are deficient in both T and B cells
23. Opiods……………..directly cause mast cell degranaulation, leading to histamine release.
Doesn’t cause IgE mediated allergic reaction. Most common with low potency opiod (
morphine and mephidene ) as high potency ( fentanyl) are better tolerated
24. Immature T-lymphocyte ……………..express both CD4 and CD8 cell surface antigens in
addition to complete TCR or pro-TCR. These lymphocyte exists in thymic cortex where
they undergo positive selection and in thymic medulla where they undergo negative
selection
25. Caseating granuloma of TB ………………surrounded by large epitheolid macrophages
with pink-pale granular cytoplasm. CD 14 is surface marker specific to monocyte-
macrophage cell lineage
26. Immunosenescense……………...is age related decline (due to loss of telomere length)
that impairs most aspect of the immune function including the production of naïve B and
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T cell. The result in diminished antibody-based immune response to novel antigens
(infections, vaccination). The immune response to previously related pathogen is
typically intact due to normal or increased level of B and T cell and preserved AB quality
(avidity for target antigen)
27. How neoplastic cells blunt the cytotoxic T-cell response and what can we do avoid
that?.................................neoplastic cells cause overexpression of PD-L1/2 which binds
with PD-1 on T-cells, causing T-cell exhaustion and limit their ability to do apoptosis. This
can be overcome by giving antibody against PD-1 ( pembrolizumab, nivolumab) or
against PD-L1( atezolizumab,avelumab).
28. Function of eosinophils……………..eosinophil proliferation and activation during
multicellular parasitic infection is stimulated by IL-5 produced by TH2 and mast cells (
don’t confuse with IL-4 that stimulate IGE production ) . when a parasite invaded the
mucosa and enter blood stream, it is coated by IgA and IgG antibodies that binds FC
receptors located on eosinophil cell surface . this triggers eosinophil degranulation and
release of cytotoxic protein ( MBP) and ROS , that damage and destroy the antibody-
bound parasite . this is an example of Antibody-dependent cell mediated toxicity,
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which is also used by macrophages, neutrophils and NK cells. Another function of
Eosinophil is regulation of type 1 hypersensitivity reaction
29. First generation Anti histamines (promethazine, diphenhydramine)
…………………...can cause side effects due to blockade of muscuranic receptors ( blurry
vision, urinary retention , exacerbation of glaucoma) , alpha adrenergic receptors (
postural dizziness, fall) , serotenergic receptors ( weight gain and appetite stimulaton ).
They should be avoided in elderly patient with cognitive impairment. So use 2nd
generation if needed like , loratadine
30. Interferon alpha and beta (Type 1 interefeorn) ………….………..are produced by most
human cells in response to viral infection. Once secreted these interferon binds to type 1
interferon receptotrs found in infected and neighbouring celss. This result in transcription
of antiviral enzymes capable of halting protein synthesis such as RNA ase (endonuclease
that degrade all RNA in cells ) and protein kinase A ( inactivated ELF-2, INHIBITING
translation initation ).Thus suppress viral replication by halting protein synthesis and
promoting apoptosis of infected cells, limiting the ability of the virus to spread .
interferon alpha and beta also induce MHC-1 expression by all cells and stimulate the
activity of NK and cytotoxic T-cells.
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31. Type 2 interferon (interferon gamma ) ………………..mainly produce by NK and T cells.
It promotes TH1 differentiation, increase expression of class-2 MHC molecules on APC
and improve the intracellular killing ability by macrophages
32. IL-2…………………….it is produced by helper T cells and stimulate the growth of CD4,
CD8 and B cells. It also activates NK cells and monocytes. The increase activity of T-cell
and Nk cell is thought to be responsible for IL-2 anti-cancer effect on metastatic
melanoma and RCC.
33. ABO hemolytic disease of newborn…………………. usually occur when maternal blood
group is O. This is because maternal blood group O will have anti A and B (IgG and IgM)
antibodies. The IgG can cross placenta and cause fetal hemolysis. This disease is rare in
mothers whose blood group is A or B. this is because A and B blood group will have
Anti B and Anti A (IgM ) antibodies respectively, which cant cross the placenta .
34. In ankylosing spondylitis ……………pathogenesis likely originate due to defect in
intestinal mucosal barrier and exposure to gut microbiome that lead to increase IL-17
mediated inflammatory response. IL-17 stimulates production of other inflammatory
markers like TNF alpha and PGS, so in nut shell in AS, there is increase expression of IL-
17 and TNF-alpha.
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35. Sensitization to aeroallergens ………..occurs when inhaled allergen induce helper T-cell
to differentiate in to TH-2 subtype , which then cause B-cell maturation and isotype
switiching to IgE
36. PNH…………..should be treated with monoclonal antibody to complement component C5
( ECULIZUMAB). This in turn limit the formation of MAC ( C5-C9), improving the
symptoms of PNH. However, inhibition of terminal complement activity and MAC
formation predispose to infection by N.meningitis. so do prophylactic immunization and
AB therapy before giving this drug
37. Inactivated killed vaccine …………. mainly induce humeral response, preventing viral
entry to cell. In contrast live vaccine provide both cellular and humoral response. IM
influenza vaccine provide antibodies against hemagglutinin antigen. Thus preventing
hemagglutinin from binding with sialic acid receptors on host respiratory epithelial cells
(preventing viral entry )
38. TB……………...around 25% of patient with active TB has false-negative TST. This is
because of impaired cell mediated immunity response (impaired lymphocyte response).
False-negative TST can also be seen in immunocompromised patients, improper injection
technique and recent infection
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39. Super antigens …………...……binds to irrelevant region of MHC-2 complex of APC
without being processed or internalized ( MHC-2 antigens are normally processed by
phagolysosome. The superantigen/MHC-2 complex interact with variable part of T-cell
receptors beta chain, which result in non-specific stimulation of large percentage of T-
cells and massive release of cytokines. These cytokines release mediate the manifestation
of toxic shock syndrome including fever, increase vascular permeability, hypotension.
40. Candida…………..…. local defense against candida is performed by T cells and
localized candidiasis is more common in HIV patients. Systemic defense against
candida is performed by Neutrophils and neutropenic patient are prone to systemic
candidiasis
41. In x-linked (burton) agammaglobinemia………...…. defect in B cell maturation,
resulting in absence mature B cells and low immunoglobulin levels. Due to absence of B
cell, primary lymph follicle and secondary lymph follicles (germinal centers) do not form
within lymph nodes. In these patient, the outer cortex is present but diminished
42. Adalimumab…………….is a recombinant human IgG that bind with TNF-alpha,
preventing its association with its cell surface receptors, blocking its anti-inflammatory
effect. However, use of this drug can cause formation of Anti-drug antibodies, which
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lead to rapid clearance and through level between doses. Thus patient experience
declining effectiveness in treatment and can develop hypersensitivity reaction after
administration
43. Immature T-cells express……………………CD4 and CD8
44. Th1 cells are induced by…………………IL-12, IFN-gamma
45. Th1 cells secrete………………….IL-2, IFN-gamma, lymphotoxin ß
46.Th2 are induced by………………...IL-2, IL-4
47. Th2 secrete…………………………….IL-4, 5, 10, 13
48. Patients with _____________receptor deficiency suffer from severe mycobacterial
infections due to inability to mount a strong cell-mediated granulomatous immune
response; they are treated with………………. IL-12 receptor deficiency, Treated with
IFN-gamma
49. Inactivated viral vaccines generate which type of response against viral antigens,
preventing entry into cell……………………. humoral immune
50. live attenuated viral vaccines generated which type of response to
viruses……………………………. Cell-mediated immune response (can kill virally-infected
cells) + provide humoral immunity
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51. Poison ivy dermatitis is a form of ……………. allergic contact dermatitis and produce-
type IV - T lymphocytes
52. Poison ivy, poison oak, and poison sumac all produce……………...Urushiol - causes an
immune response when attached to proteins (ie- hapten)
53. In Urushiol-induced contact dermatitis, what are the primary effector cells that
directly destroy keratinocytes expressing haptenated proteins…………..CD8+ T cells
54. Intensely pruritic erythematous papules, vesicles, or bullae in linear
patterns……………………. poison ivy (Urushiol)
55. Binding of ________________ or _____________to one of its ligands downregulates the
immune response by inhibiting cytotoxic T cells…………………. PD-1 (programmed
death protein), CTLA-4 (cytotoxic T-cell associated protein)
56. B cells reside where in the of lymph nodes………………follicles (in cortex)
57. T cells reside where in the of lymph nodes……………. Para cortex
58. X-linked-Agammaglobulinemia prevents ___ and ___ from forming in the lymph
node cortex…………………primary lymphoid follicles, germinal centers
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59. Patchy necrosis with granulation tissue on endomyocardial biopsy after cardiac
transplant……………………. ischemic damage to donor heart (prior to or after
transplant)
60. Most common organisms in chronic granulomatous
disease………………………….………..S. aureus, Burkholderia cepacia, Serratia marcescens,
Nocardia, Aspergillus
61. MHC class I antigen presentation pathway………………………ubiquitin ligase tags
foreign intracellular particles --> particles degraded by proteasome --> particle coupled
to MHC class I in ER --> MHC with antigen presented on cell surface for CD 8 T cells
62. MHC class II antigen presentation pathway…………………antigen taken into APC and
loaded onto MHC class II within acidified endosomes---MHC class II protein-antigen
complex is expressed on cell surface
63. Failure to acidify lysosomes would lead to deficient expression of what on on
APCs…………………….MHC class II bound to foreign antigen
64.NK cells recognize and kill cells with………………..decreased MHC class I antigen cell
surface expression, eg virus-infected cells and tumor cells
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65. NK cells are……………large lymphocytes that contain perforins and granzymes in
cytoplasmic granule---------- kill target cells by inducing apoptosis (granzymes gain
access to target cells via membrane holes created by perforin; NK cells do not directly
lyse target cells)
66. NK cells express what CD molecules……………….CD16 or CD56
67. NK cells are activated by…………………. IFN-gamma and IL-12
68. M. TB primarily replicates within the ______________ leading to display of
mycobacterial antigens on MHC class I molecules, resulting in……………………
phagolysosome of alveolar macrophages------- APCs in lymphatics display mycobaterial
antigens on MHC class II, release IL-12--------- activation of CD4 cells (Th1) -----------
-- migration to infection, secretion of IFN-gamma---------------- activation of
macrophages
69. B cell affinity maturation………………. cells with stronger Ag affinity proliferate more
than cells with weaker affinity
70. Each MHC class I molecule consists of……………. a heavy chain and ß2 macroglobulin
71. MHC class II structure………………..alpha and beta polypeptide chain
72. Pus consists mostly of…………………….dead leukocytes, mainly neutrophils
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73. What is rheumatoid factor………………IgM antibody against Fc portion of IgG
74. Tryptase………………...specific to mast cells and can be used as a marker for mast cell
activation
75. Too much serum of which antibody can increase risk for disseminated N.
meningitidis infection………………………. IGA - attaches to bacteria and prevents
attachment of IgM and IgG that induce complement cascade
76. Low levels of _________ are found in serum sickness, which is type _______
hypersensitivity……………………...C3 and C4 complement; III
77. Scattered areas of fibrinoid necrosis and neutrophil infiltration involving small
blood vessels…………………serum sickness - type III hypersensitivity reaction
78. Anti-Rh Ig consists of…………………….IgG anti-D Abs that opsonize Rh+ fetal
erythrocytes --> clearance by maternal reticuloendothelial macrophages-------prevention
of interaction with maternal immune system via sequestration, elimination by the
mother's spleen----------prevents maternal Rh sensitization
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MEDICAL GENETICS POINTS
(FROM UWORLD AND FA)
1. Bloom syndrome……………………………………AR disorder caused by mutation in BLM gene encoding
HELICASE, an enzyme that unwound the double helix during DNA replication. Patient present with
growth retardation, facial anomalies, skin rash, photosensitivity and immunodeficiency due to
chromosomal instability and breakage
2. Cystic fibrosis………………mutation in CFTR gene at amino acid 508. This mutation impairs post
translation processing of CFTR, resulting in shunting of CFTR towards proteasome degradation, with
complete absence of protein on the surface. Present with chronic Sino pulmonary infections, nasal
polyps, bronchiectasis, digital clubbing. All listed complain are also present in primary ciliary dyskinesia
( kartegnar syndrome- DYNEN arm defect ) . However, in cystic fibrosis there is congenital absence
of bilateral vas deference ( azospermia and infertility but normal level of FSH/LH &
TESTOSTERONE) as compared to immotile spermatozoa in kartegnar syndrome. Also, in cystic
fibrosis, there is failure to thrive as compared to kartegnar syndrome in which thr is normal growth.
FOR CYSTIC FIBROSIS, elevated sweet chloride is a diagnostic test.
3. How does Lumacaftor and Ivacaftor work………………. CFTR-modulating meds, can help patients
by restoring CFTR proteins to the membrane and enhancing protein function (Cl transport), respectively.
The combo of lumacaftor and ivacaftor in pts with homozygous del F508 mutation has been shown to
improve predicted FEV and decrease rates of pulmonary exacerbations
4. Telomerase………………...has RNA dependant- DNA polymerase (reverse transcriptase) activity that
lengthen telomeres by adding TTAGGG repeat to the 3’end of chromosome. Present in embryonic
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cells, fetal cells, rapidly dividing cells (epithelial cells, hematopoietic stem cells), but not present in
adult somatic cells (myocardial ells, neurons and pancreatic B-cell). Critical shortening in telomere
length can result in programmed cell death. Dyskeratosis congenita is a genetic disorder due to
mutation in genes related to telomere maintenance ( Reverse transcriptase) that result in premature
death of the cell with high turnover characteristically causing mucocutanous changes ( oral
leukoplakia, dystrophic nails , bone marrow failure and pulmonary fibrosis.
5. TATA box ……………….is a promoter region that bind transcription factors and RNA polymerase 2
during the initiation of transcription. It is located 25 bases upstream from the beginning of of coding
region. Mutation in TATA region can impair the transcription
6. Patient who require stem cell transplantation due to congenital genomic diseases……….matched
unrelated donors( subtype of allogeneic donor ) are best for congenital genomic conditions because
the genomic error that leads to the patient condition will not be present in unrelated individual
7. Alternative splicing……………..is a normal process by which single gene can code for various unique
proteins by selectively including or excluding different DNA coding regions( exons) into mature
mRNA. This phenomenon is also implicated in various human diseases. Cancer cells in particular can
use alternative splicing to evade innate defense mechanism. The FAS RECEPTOR-FAS LIGAND drive
a programmed cell death via cytotoxic T-cell mediated extrinsic pathway. Cancer cells may develop the
ability to splice out particular Exon that code for the transmembrane domain of the FAS receptor,
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converting it to soluble form that is not expressed on the cell surface, which allows the cells to evade
apoptosis
8. Homeobox gene…………………….highly conserved DNA sequence that is usually about 180 nucleotide
in length. This gene encode DNA binding transcription factors that play an important role in
segmental organization of the embryo along the cranio-caudal axis
9. Turner syndrome…………………In vitro fertilization using a donated ovum is the most promising
mean of achieving pregnancy in a women with turner syndrome. Pregnancy can occasionally occur
spontaneously in some patients with turner syndrome but the risk of spontaneous abortion, down
syndrome and turner syndrome are all increased in such cases.
10. DNA synthesis …………………parent double DNA helix is separated and unwound by an enzyme
helicase and stabilized by ssDNA-binding protein. The location where unwound DNAA meets the
double helix is known as replication forks. Synthesis of daughter DNA strand occur simultaneously
from both parent strands. As DNA synthesis occur in 5’-3’ direction, one daughter strand is
synthesized continuously towards the replication fork (leading strand) . However, the other strand
must be synthesized discontinuously away from the replication fork (lagging strand) . This result in
the formation of okazaki fragments, short stretches of newly synthesized DNA that are separated by
RNA primers. These primers are remove and replaced with DNA, and the okazaki fragments are
eventually joined together by DNA ligase. Because of the discontinue nature of DNA on lagging strand,
DNA ligase act most of the time on lagging strand than on the leading strand
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11. Therepautic ionizing radiation………………..used to treat or palliate several types of cancers by
inducing dsDNA damage through breaks in dsDNA and also by inducing free radical formation
12. Poly-A-tail…………….chain of adenine residue added as post transcriptional modification
downstream of consensus sequence ( AAUAAA) located near the 3 end of mRNA molecule and forms
complementary base pair with repeated deoxythymine. This tail protect mRNA from degradation within
the cytoplasm after it exit the nucleus
13. Transcription of DNA……………when mRNA is first synthesized from DNA, it is in an unprocessed
form called pre-mRNA or heterogenous nuclear mRNA(hnRNA). Several steps like (5’capping, poly-A-
tail addition and intron splicing) occur before leaving the nucleus. Once mRNA is finalized, it leaves
the nucleus bound with specific packaging proteins. Upon entering the cytoplasm, these mRNA
often associate with ribosomes to undergo translation. However, certain mRNA sequence instead
associates with proteins that are found in P bodies. P bodies are involved in mRNA turnover and
regulation
14. Multifactorial disease………………….many frequently encountered diseases ( HTN, spin bifida)
display a multifactorial inheritance , which involves complex interaction of numerous genetics and
environmental factors to determine phenotypic expression
15. TATA & CAAT boxes…………………………are promoters of transcription in eukaryotic cells and are
located approximately 25 and 75 base upstream from the transcription start site, respectively. They
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promote initiation of transcription by serving as a binding sites for transcription factors and RNA
polymerase 2.
16. Duchene muscular dystrophy………………………….x linked disorder typically due to frame shift
mutation (most common) but can also be caused by nonsense mutation in dystrophin gene that lead
to formation of truncated , defective protein. Nonsense mutation introduce stop codon ( UAA, UGA,
UAG) in coding sequence of mRNA.
17. Polygenic inheritance……………………..androgenic alopecia, epilepsy , glaucoma ,HTN, ISD,
schizophrenia, type 2DM.
18. Fragile x syndrome……………………….X linked dominant disorder due to unstable expansion of
trinucleotide repeats ( CGG) in the fragile X mental retardation 1 ( FMRI GENE ). Cytogenetic studies
(chromosomal analysis) show a small gap near the tip of the long arm of X chromosome ,which lead to
hyper methylation and inactivation of FMR1. when the cells of the affected individuals are cultured in
folate deficient medium , the area of increased repeats doesn’t stain and appear broken and hence the
name fragile-X
19. Splicing of pre-mRNA……………….part of the process by which precursor mRNA is transformed to
mature mRNA. Splicing is performed by spliceosomes (primary transcript combines with snRNP and
other proteins to form spliceosome). The spliceosome removes introns containing GU at 5’ splice site
and AG at 3’ splice site. Splice site mutation may result in in appropriate removal of exons and
retention of introns, leading to formation of dysfunctional proteins.
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20. Meiotic non-disjunction……………………………is responsible for turner syndrome, klinefelter syndrome
and trisomy’s 12,18,21.
21. Renal cell carcinoma…………………sporadic and hereditary (associated with von-hippel-lindau
disease) renal cell carcinomas are associated with mutation invoving the VHL gene on CH 3. The
VHL gene is a tumor suppressor gene that inhibit hypoxia –inducible factors; mutation lead to
activation of these factors, resulting in activation of multiple angiogenic and tumorigenic growth
factors ( VEGF ,PDGF)
22. Alzheimer disease………………….early onset is due to three genes mutation ( APP-CH21,
presenelin 1nd 2 ) whereas late onset is associated with apolipoprotein E4 genotype
23. Mitochondrial myopathy……………presence of lactic acidosis and ragged skeletal fiber on
histology suggest a mitochondrial myopathy. Variable clinical expression can occur in affected family
member due to heteroplasmy, which is the presence of both normal and mutated mtDNA
24. 3’CCA tail………………. the 3’CCA tail of tRNA serve as the AA bidning site. Aminoacyl tRNA sythetase
is the enzyme responsible for loading the appropriate AA to the 3’ terminal hydroxyl group of CCA
tail. In contrast the D-LOOP facilitates correct tRNA recognition by the proper aminoacyltRNA
synthetase.
25. Enhancers/silencers……………………….may be located upstream/downstream or within transcribed
gene; these gene sequence function to increase or decrease the rate of transcription, respectively.
They have also been identified within introns of the gene being transcribed and as well as on separate
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chromosomes. In contrast, promoters regions are typically located 25 or 75 base upstream from the
associated gene and function to initiate transcription
26. Wooble hypothesisi………………………the genetic code is considered DEGENERATE because more than
1 codon can code for a particular AA. Some of this degeneracy is explained by WOOBLE HYPOTHESIS,
which state that the first 2 nucleotide positions on the mRNA codon require traditional (Watson-craik
) base pairing, whereas the 3rd wooble nucleotide position may undergo nontraditional base pairing.
For example, the codon CCU and CUC both code for the AA leucine
27. Familial DCM………………Autosomal dominant-incomplete inheritance.Truncating mutations (non
sense mutation ) affecting the TTN gene, which encode for the sarcomeric protein TITIN is the most
common cause of Familial DCM. Titin is the elastic protein the anchors the beta-myosin heavy chain
to the Z-disc and likely contribute to passive myocardial tension; absence of complete Titin proteins
lead to myocardial dusfunction
28. Nucleolus……………is the site for ribosomal subunit maturation and assembly. RNA polymerase-1
function exclusively in the nucleolus to transcribe the 45s pre-mRNA, which code for most of the
ribosomal RNA components ( 18s, 5.8s, and 28s rRNA)
29. How to determine if the gene is described or not ……………………by Northern blot as it detect target
mRNA. During northern blot variability in the lengths of mRNA transcribed from a single gene may be
the result of alternative splicing.
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30. Blotchy red muscle fibers on Gomori trichrome stain………………are characteristics finding of
mitochondrial myopathies. In this condition abnormal mitochondria accumulate under the
sarcolemma of muscle fibers.mitochondrial disease show maternal inheritance so look at the
question carefully if the above finding were given in MALE, the inheritance will be zero.
31. Down syndrome………………….unbalanced robertsanain translocation account for minority of Down
syndrome cases. Karyotyping show 46 chromosomes with a translocation between 2 acrocentric non-
homologous chromosomes [ 46,XX,T (14,21)]
32. Unique feature of DNA replication is that ……………….it has multiple origin of replication.
33. HLA gene………………….codes for MHC that are key to activation of immune cells in response to foreign
( non-self ) antigens. All the HLA genes are clustered together, meaning that there is low rate of cross
over and offspring inherit 2HLA haplotypes ( a series of linked gene on same chromosomes), one
from each parent. Thus the probability that a sibling would be in identical match is 25% ( ¼) , ½
chance of inheriting half of the same HLA genes, ¼ chance of inheriting none of the same HLA genes
( HLA mismatch)
34. Genetic imprinting………………..refers to phenomena in which offspring genes are expressed in parent-
specific manner. It is caused by DNA methylation, an epigenetic process in which genes can be
silenced by attaching methyl group to cytosine residue in DNA molecule.
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35. Releasing factor …………………….recognize stop codons ( UAA, UAG, UGA) and terminate protein
synthesis. They facilitate release of polypeptide chain from the ribosome and dissolution of ribosome-
mRNA complex.
36. tRNA…………………….tRNA that is mischarged with wrong AA ( and not corrected by aminoacyl
transferase proofreading activity ) will incorporate the wrong AA in growing peptide chain
37. Genitis shift………………..virus with segmented genomes ( rota virus, orthomyxoviruses,
bunyaviruses) are capable of genetic shift ( infection of 1 cell by 2 different segmented viruses )
through reassortment ( exchange of entire genomic segment) , that result in completely
different virus ,leading to major global outbreaks ( pandemics)
38. Western blot………………….detect a target polypeptide or protein forms with a mixed sample.
Targeted proteins are separated by gel electrophoresis. The separated protein are then transferred to
a nitrocellulose cell membrane and probed with primary antibody specific for protein of interest. The
membrane is then washed and treated with (secondary) marked antibody that bind to the primary
antibody and can be detected. It is similar to ELISA but in ELISA the patient serums are tested directly
,whereas in western blotting the protein are first separated by gel electrophoresis
39. Mosaicism ……………………….is defined as the presence of multiple genetically different cell lines
within the body. Somatic type affect cell forming the body, causing disease manifestation to develop
in affected individuals. 45, X/46XX is the most commonly diagnosed mosaicism ( somatic)
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affecting sex chromosomes. These patients typically have milder form of turner syndrome. Germline
mosaicism affect the cell that give rise to gametes, allowing the affected gametes to pass the offspring
40. Pleiotropy………………………multiple phenotypic manifestation result from a single gene mutation
41. Infant w/ constipation lethargy, hypotonia, macroglossia, umbilical hernia, and large ant
fontanelle ……………………...Congenital hypothyroidism -doesn't present until maternal T4 wanes
42. Patau syndrome………………...trisomy 13, usually occurs secondary to meiotic nondisjunction in
mothers of advanced maternal age. Defective prechordal mesoderm fusion resulting in midline
defects (holoprosencephaly, micropthalmia, clef lip/palate, omphalocele) as well as polydactyly and
cutis aplasia
43. Trinucleotide expansion occurs more frequently during paternal
transmission…………………causing a genetic phenomenon called anticipation
44. Kozak consensus sequence occurs on………………eukaryotic mRNA and is defined by the following
sequence: (gcc)gccRccAUGG, in which R is either adenine or guanine. This sequence helps initiate
translation at the methionine start codon (AUG)
45. Rett syndrome……………...X linked DOMINANT disorder, affecting females (males die in utero),
leading progressive neurodegeneration with stereotypical hand movements
46. Achondroplasia…………………...short-limbed dwarfism caused by a mutation that results in activation
of (gain of function mutation) fibroblast growth factor receptor 3 (FGFR3). Sporadic mutation (due
to advanced paternal age) (85%)and as inherited in an autosomal dominant in the other 15%. Most
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individuals affected by AD< disorders are heterozygous and have a 50% chance of transmitting the
mutation to their offspring.
47. Nondisjunction………………. failure of chromosome pairs to separate properly during cell division.
Can be failure of separation of homologous chromosome (Meiosis 1) or failure of sister chromatids to
separate (Meiosis 2)
48. Locus heterogeneity………………ability of one disease or trait to be caused by mutations in multiple
different genes. Ex: familial hypercholesterolemia
49. Two allele loci are said to be in linkage disequilibrium……………………. when a pair of alleles are
inherited together in the same gamete (haplotype) more often or less often than would be expected
given random pairing. Most often occurs when the genes are in close physical proximity on the
same chromosome
50. Hypo-acetylated histones bind tightly to DNA and PREVENT……………...transcription of genes in
their associated regions
51. Acetylation of histones is primarily for………………. weakening of DNA-histone bond and makes
DNA segments more accessible to transcription factors and RNA polymerases, enhancing gene
transcription
52. Trisomy 18 Edward's syndrome …………….is most commonly the result of meiotic nondisjunction
due to advanced maternal age. Present with low-set ears, prominent occiput, rocker bottom feet and
clenched hands with overlapping fingers
DR-KHAN (YASIR) 11
53. what is the most common GI complication in pts with Down Syndrome…………. duodenal atresia
(failure of recanalization of the duodenum in early gestation. Present during the first few days of
life with bilious emesis and the classic double bubble sign, which represents the dilated stomach and
proximal duodenum
54. Chromosome 22q11.2 microdeletion results in…………………. DiGeorge syndrome (cardiac
anomalies, hypoplastic or absent thymus, and hypocalcemia) and velocardiofacial syndrome (cleft
palate, cardiac anomalies, dysmorphic faces). Diagnosis is by fluorescence in situ hybridization, which
is the "gold standard for detecting a microdeletion
55. Tuberous sclerosis…………………defective tumor suppressor gene-coded proteins hamartin (TSC1)
and tuberin (TSC2), and is characterized by cutaneous angiofibromas, brain hamartomas, and
cardiac rhabdomyomas
56. Compact heterochromatin (Barr body) …………………X inactivation occurs in genetically normal
females and results in conversion of the inactivated X chromosome in to barr body
57. Heterochromatin……………...………. condensed chromatin composed of heavily methylated DNA in
tight association with deacetylated histones. Has low level of transcriptional activity
58. Euchromatin…………………. loosely arranged and exhibits a high level of transcriptional activity
59. Nucleosomes………………………structural subunits within the nucleus of eukaryotic cells that are
composed of DNA wrapped around a core of histone proteins
DR-KHAN (YASIR) 12
60. Nucleosomes are composed of DNA wrapped around a core of 8 histone proteins...............2
molecules each of H2A, H2B, H3, and H4
61. HI histone is located OUTSIDE of the histone core and helps………………...package nucleosomes into
more compact structures by binding and linking the DNA between adjacent nucleosomes
62. Klinfelter syndrome…………………………………47, XXy is the most common genotype. Patients presents
with tall stature, small firm testes, azoospermia, and gynecomastia. Mild intellectual disability is seen
in some patients, and the severity generally increases with each additional X chromosome
63. X-lined recessive inheritance……………………. affected males will always produce un affected sons
and carrier daughters. Carrier females have a 50% chance of producing an affected son or carrier
daughter.
64. AML type 3…………………………………. The cytogenic defect t(15,17) is associated with acute
promyelocytic leukemia (AML type 3). Translocation of the gene for the retinoic acid receptor alpha
from chromosome 17 to chromosome 15 leads to formation of the fusion gene PML/RARq.
65. Sickle cell anemia ………………………………….is an autosomal recessive hemoglobinopathy. In order for
a child to have sickle cell disease, both parent must be carriers. Hemoglobin electrophoresis can be
used to determine the carrier status of a prospective parent who has no history of sickle cell
anemia.
66. Trisomy 21……………………… is detectable by cytogenic karytoupe analaysis and is the most common
genetic cause of congenital mental retardation. Patients with Down syndrome are at increased
DR-KHAN (YASIR) 13
risk of developing acute lymphoblastic leukemia and acute myelogenous leukemia ( more specifically
M7 type).
67. Xeroderma pigmentosum………………………… develops due to a defect in DNA excision repair. It is
an autosomal recessive condition.
68. Base excision repair…………………………. is used to correct single-base DNA defects induced
spontaneously or by exogenous chemicals. In this process, glycosylases remove the defective base,
and the corresponding sugar-phosphate site is cleaved and removed by the action of endonuclease
and lyase. DNA polymerase then replaces the missing nucleotide, and ligase seals the final
remaining nick.
69. PKU ………………………………………...Intellectual disability, gait or posture abnormality, eczema and a
musty body odor in a toddler are signs of phenylketonuria. Most infants with PKU are born to 2
heterozygous carrier parents. The probability that heterozygous carrier parents will transmit an
autosomal recessive disease such as PKU to a child is ¼.
70.
DR-KHAN (YASIR) 14
MICROBIOLOGY POINTS (FROM
U-WORLD, AMBOSS AND Rx)
1. Round oval, budding yeast that form germ tubes at 37C………………. CANDIDIA
2. Staphylococci promotes the growth of H. influenza by providing
……………………...Factor 5 (NAD+)
3. Streptococoi agalagtica ………...one of the most common cause of early neonatal sepsis
and has narrow zone of hemolysis , produce CAMP factor which enlarge the area of
hemolysis formed by S. aerous. Thus testing for CAMP factor can confirm the diagnosis
of GBS
4. Chickenguniya virus ……………….by Aedes mosquito and cause high fever and severe
polyarthralgia
5. Round oval (spherical) yeast with thick capsule ………………. Cryptococal infection that
cause meningitis in HIV patients. acquired through inhalation in lungs
6. C. diphtheria………………...cause severe myocarditis and HF via exotoxin A that
ribosylate and inactivates EF-2, inhibiting cell protein synthesis and cell death. The toxin
has similar mechanism action with the toxin of P. aeruginosa
7. Meningeal sign and symptoms with neutrophilic pleocytosis, Dec glucose and high
protein and wet mount CSF show motile trophozoites …………Naelgri fowleri (via
swimming in fresh water and enter via cribriform plate
DR-KHAN (YASIR) 1
8. Dengue (ssRNA) hemorrhagic fever…………., flu Like illness with marked myalgia and
joint pain, thrombocytopenia, hypotension, positive tourniquet test. Primary infection
with dengue provide lifelong immunity with the same serotype but reinfection can occur
with different serotype that can be more fatal
9. Staphylococcal epidermidis ……………. coagulase + , and most common cause of
foreign body infections( prosthetic devices –Hip transplant, heart valve , IV catheters)
because of production of biofilms (synthesis of ECM)
10. CMV is ……………enveloped DS DNA virus that is the most common cause of pneumonia
in transplant patients. Cells have owl eye inclusions
11. Yersenia pestis …………. gram negative coccobacilli that cause febrile illness and
inflammatory lymphadenopathy (buboes). Exhibit bipolar staining, resembling a closed
safety pins. Reservoir is rodents (rabbits) and transmission occur via flea bite.
12. Congenital toxoplasmosis cause triad of ………………...Chorioretinits, Hydrocephalus
and Intracranial calcification. Pregnant female should avoid exposure to cats and ingestion
of undercooked meat
13. Patient with HIV and CD4 < 200 are………….at risk of pneumocystis Jiroveci, so
prophylaxis with TMP-SMX
DR-KHAN (YASIR) 2
14. SCARLET FEVER…………fever, pharyngitis, sandpaper like rash that blanches with
pressure and strawberry tongue. Caused by strep pyogenesis that produce exotoxins.
15. Common causes of viral meningitis are ………………...Enterovirus (Coxsackievirus virus,
Echovirus and polio virus) also less common are HSV-2.
16. NISSERIA MENINGITIS …………transmitted primarily by aerolized droplets -------------
--colonize nasopharyngeal epithelium (via use virulence factor, PILLI) ----------------
blood stream…………...then spread to meninges via transcellular penetration of cerebral
capillary endothelium or entry at choroid plexus
17. Pasturella multicoda (gram – coccobacilli) ……………can be caused by dog (common)
or cat bite. the injured site has mouse like odor
18. LISTERIA MONOCYTOGENS…………facultative gram + rod. Pregnant women at third
trimester is at greater risk. Virulence is by Listerolysin O which create pores in
phagosomes and allow the bacteria to escape lysosomal destruction. Also form rocket
tails via ACTIN POLYMERIZATION that allow intracellular movement and cell to cell
spread.
19. LISTERIA MONOCYTOGENS……….………facultative gram + intracellular bacteria with
very narrow zone of B-hemolysis like group B streptococcus. It shows tumbling motility
DR-KHAN (YASIR) 3
on room temperature and can grow in Refrigerated temperature. As it is intracellular
pathogen so elimination of it is dependent on cell mediated (cytotoxic T-cell) immunity
that cause interferon gamma release…………...macrophage release…………. acidified
phagolysosome then destroy bacteria
20. Arbovirus mening-encephalitis ……………. caused by Arbovirus, small RNA virus
(West Neil virus, St-louis encephalitis, La Crosse virus and Eastern/Western equine
encephalitis). SYMPTOMS range from asymptomatic to flue like, meningitis signs/sx,
encephalitis –confusion, tremors, and focal neurological deficits. The presence of acute
asymmetric flaccid paralysis particularly with Parkinson like features is characteristic of
………….... (West Nile virus). Transmitted by arthropod. Bcz thr is no vaccine available
so primary prevention involve elimination of vector arthropod.
21. Human herpes virus 6………cause roseola infantum (3-5 days of high grade fever,
followed by seizures than by maculopapular rash that start on the trunk than spread to
extremities
22. CF exacerbation is caused by ……………...S.aerous, Non typable H. influenza,
Pseudomonas, S.pneumonia and BURK holderia cepacia
DR-KHAN (YASIR) 4
23. Babesiois ……………transmitted by Ixodes tick (ALSO responsible for lyme disease
caused by Borrelia burgdorferi ) . After plasmodium it is the 2nd parasite causing
hematologic infections. Present with fever and thrombocytopenia, indirect
hyperbilirubinemia, elevated LDH, low heptoglobin, hemolytic anemia. Blood smear
show ring form-intraerythrocytic inclusions (Maltese cross)
24. Congenital Zika syndrome……………. caused by Zika virus (SS RNA virus of Flavivirus
family). Transmitted by Aedes mosquito. Sexual and vertical transmission is possible. Can
cause fetal demise, microcephaly, spasticity, seizures. Imaging shows calcification,
ventriculomegaly and cortical thinning. Pathogenesis is that it destroys fetal neural
progenitor cells
25. Acute bacterial prostatitis…………. caused by reflux of urine and organism from the
bladder and urethra. Present with fever, dysuria and prostate tenderness. Most commonly
caused by E. COLI although klebsilla , pseudomonas can also cause it .
26. N.gonorrhoea …………..…has high antigenic variability of its surface molecules
( porins, protiens , OPA) which prevent the formation of effective immunity and
recurrent infection occur
DR-KHAN (YASIR) 5
27. Bacillus anthrax……...……. gram + spore forming rods that produce Anthrax exotoxin
complex, consist of lethal factor, edema factor. It is the only bacteria with a polypeptide
capsule composed of D-glutamic acid. Can cause pulmonary anthrax also called wool
sorters disease (lead to hemorrhagic mediastinitis, shown as wide mediastinum on x-
ray). Also cause cutaneous anthrax (painless papules surrounded by vesicles and ulcer
with black eschar. Culture show colonies with curled extension at the edges that
resemble MEDUSA HEAD
28. Rabies encephalitis …………...agitation, restlessness, dysphagia progressing to coma
within weeks of exploring a cave points toward rabies infection. In USA bats are the
main source of rabies. Prophylactic killed (Inactivated) rabies vaccine should be taken by
all high risk individuals
29. Treatment of diphtheria………….in an old age, under vaccinated, acutely ill person, the
diphtheria toxoid (active immunization) will work but the immune response will be slow.
So the effective treatment is Anti toxin (artificial passive immunity) which contain
preformed Abs
DR-KHAN (YASIR) 6
30. Neisseria meningitis ………. Pilli are the most important virulence factor that aid in initial
colonization of nasopharyngeal epithelium. These Pilli show antigenic variability which
makes it difficult target for vaccination
31. COPD exacerbation …………. increase dyspnea and cough plus change in the color of
sputum indicated exacerbation. About half of the cased are caused by viral infection
like influenza, parainfluenza and rhinovirus. But less common caused include
streptococcus pneumonia and air pollution and pulmonary embolism
32. Bartonella hensle ……………. cause cat scratch disease (initially vesicular to
erythematous to papular followed by red, swollen and tender regional
lymphadenopathy) also cause Bacillary angiomatosis (dark, violaceous, cutaneous
papules seen in HIV patient. Can also be seen in Kapsoi Sarcoma, so depend on lab
finding what to choose) in immunocompromised patients. Also cause culture negative
endocarditis
33. HCV………. lack 3’-5’ exonuclease activity (PROOF READING ACTIVITY) in RNA
polymerase. This lead to antigenic variation of HCV envelop proteins.
34. Strongyloides stercoralis …………………. larva in soil penetrate skin………….
lungs………...alveoli…………. pharynx and swallowed………. intestine ………...develop to
DR-KHAN (YASIR) 7
adults and lay eggs which hatch to rhabditiform larvae and migrate to intestinal lumen
to be secreted in stool. Dx in confirmed by rhabditiform larvae in stool
35. Molluscum contagiousm…………caused by Pox virus. Firm shiny, dome shape, fleshy
colored papules with central indentation/Umbilication. Microscopy shows
intracytoplasmic eosinophilic inclusion bodies (Molluscum bodies)
36. H.Influenza………….……Major adaptive immune system that prevent reinfection with
influenza is the presence of anti-hemagglutinin Abs
37. Intra-abdominal infection…………. are polymicrobials with B. fragilis > E. COLI are
common caused (like it can cause periappendical fluid collection after the perforation of
appendix.
38. H. influenza …………...Major virulence factor is polysaccharide capsule which is
composed of polyribosylribitol. The PRP capsule protect the bacteria from phagocytosis
and complement mediated lysis by biding to factor H, a protein that prevent deposition
of complement on host cells
39. Necrotizing fasciculitis…………. caused by S. pyogens, S aerous, C. perfringes. Sudden
onset of severe pain and swelling at site of trauma or recent surgery. Patient quickly
become hypotensive………septic shock. Tx is aggressive surgical debridement
DR-KHAN (YASIR) 8
40. Organism causing diarrhea with low infection dose …………. shigella, C.jejuni, E
histolytica and giardia lamblia while agents with high infectious dose is salmonella
41. Thayer martin medium ………...used to culture Neisseria species. This medium is infused
with vancomycin to inhibit gram + bacteria, colistin and TMP to inhibit gram- bacteria
and with nystatin to inhibit yeast
42. Staphlococal food posiing ………is caused by ingestion of preformed enterotoxin in
contaminated food. For prevention wash hands before preparation of food ( washing
hands before eating won’t protect ) and ensure refrigerated storage to prevent bacterial
proliferation and endotoxin production . It is to remember that the enterotoxin produce
by S.aerous is heat stable so it is not destroyed by adequate cooking .
43. Congenital rubella syndrome…………to prevent give the live attenuated vaccine to
non-pregnant women (advise them to avoid pregnancy for 4 weeks after vaccination)
and to infants at age 12-12months and again at 4-6 years.
44. Ulcerative sexually transmitted diseases …………...painful are …………Chancroid
caused by H.ducreyi and Genital herpes. Painless are ………granuloma inguianle caused
by Klebsella granulamtis , Syphilis and lymphogranuloma venerum.
DR-KHAN (YASIR) 9
45. Lymphogranuloma venerm …………...caused by C. trachomatis (L1. L2. L3). INITIALY
painless small ulcer on genitals……………………progress to swollen, painful inguinal lymph
nodes that ulcerate (buboes). TX with doxycycline
46.Organisms not covered by Cephalosporin ………………LAME (listeria, MRSA,
Enterococci…………... bcz of resistant penicillin binding protein and Atypical (chlamydia
and mycoplasma ………...bcz of no cell wall)
47. HIV …………….attach to host cell using the virus surface glycoprotein GP120.
This glycoprotein binds to CD4 molecule as a primary receptor and the chemokine
receptor CCR5(CXCR4) as a co-receptor. Binding of primary receptor and chemokine
receptor mediates viral fusion to the host cell and release of viral capsid in cytoplasm.
MARAVIROC is a chemokine receptor antagonist. It doesn’t interfere with viral
attachment but does interfere with viral fusion. This is because GP120 is still able to bind
to primary CD4 receptor but may be blocked from binding to chemokine receptor. This
prevent conformational change required for fusion. ENFUVIRTIDE also inhibit fusion of
HIV.
48. HIV……………...…Most patient with HIV develop mononucleosis like sx (fever, diffuse
lymphadenopathy, malaise, myalgia, sore throat) 2-3 weeks after inoculation which is
DR-KHAN (YASIR) 10
called Acute retro viral syndrome. The presence of oropharyngeal ulcers and diffuse
maculopapular rash are important diagnostic clues. Acute retroviral syndrome is
associated with extremely high level of viral replication as cell mediated and humoral
antibody response against virus is not yet fully activated. Thus lab test at this time
usually show the evidence of HIV in plasma ( + viral laod and P24 antigen ) with a
negative serological marker ( HIV1/2AB) . this is called window period. The humoral
response against HIV develop usually 6-8 weeks after initial infection.
49. Enterococi …………. Catalase negative gram + cocci that grow in 6.5 % NACL (unlike
non enterocous S.bovis that doesn’t grow). genitourinary instrumentation is associated
with Enterococci endocarditis
50. Pediculus humanus ……….……cause Pediculus captis (head ice infestation) is common
in school going children and adult who come in close contact with infected individuals
(sports team, homeless shelters). Tx is topical Pediculicides (Permethrin or Ivermectin)
51. Phthirus pubis …………is a human pubic lice which usually transmit during sex by skin –
skin contact. Therefore, can’t be prevented by condoms. Typically, intense pruritus occur
which lead to skin scratching. First line treatment is topical PERMETHRIN cream which
DR-KHAN (YASIR) 11
block the parasite Na ion conduction in nerve cell membrane channel and result in louse
paralysis and death.
52. Clostridium botulinum……………acquired by taking canned foods
53. S. aerous …………………acquired by dairy products (custard), mayonnaise and salad.
54. Vibria parahemolytics and vibria vulnificus……………acquired by raw oysters
55. Salmonella gastroenteritis…………. acquired by raw egg, undercooked poultry
56. Ecoli……………acquired by undercooked beef
57. Syphilis diagnostic serology…………...Non trepanomal ( RPR,VDRL) is AB to
Cardiolipin, cholesterol and lecithin antigen but this is of low Sensitivity. Trepanomal
(FTA-ABS, TP-EIA) is AB to trepanomal antigens (Specific).
58. Clostridum septicum ………….is a gram + spore forming obligate anerobic rod.
Although it is nonpathogenic, it lead to invasion with subsequent hematogenous
dissemination to healthy muscle tissue, result in spontaneous gas gangrene
(atraumatic, unlike C.perfringes which is associated with trauma )). Clinical finding
includes rapid onset muscle pain, fever, hemorrhagic bullae with dusky surrounding skin
and tissue edema and crepitus. Major risk factor is COLONIC MALIGNANCY which
DR-KHAN (YASIR) 12
provide a portal of entry. Inflammatory bowel disease and immunosuppression is also
risk factors
59. Pneumococcal vaccine………….... Pneumococcal polysaccharide vaccine -23. As
polysaccharide cannot be displayed by MHC of APC, so immunogenicity to this vaccine
is T-cell independent and driven largely by B-cell activation. This lead to moderate
immune response that is effective against adult but no infants…………Pneumococcal
capsular vaccine ……….it is attached to inactivated diphtheria toxin which allow the
polysaccharide capsule to be displayed by the MHC and lead to stronger immune
response that induce T-cell mediated B lymphocyte activation
60. Mycoplasma pneumonia and Chlamydia pneumonia ………………M. pneumonia
completely lack cell wall and C.Pneumonia cell wall is made of alternate protein. So they
can’t be cultured on gram stain. therefore, TX is based on protein synthesis inhibitor such
as macrolide and tetracycline.
61. TB …………Important virulence factor is CORD FACTOR which form cylindrical micelles
that surround the organism and prevent macrophage mediated destruction. Tb is acid
fast due to presence of Mycolic acid
62. C.difficile ……………Produce toxin A and B that disturb cytoskeleton integrity by
DR-KHAN (YASIR) 13
DE- polymerization of actin, leading to disruption of intracellular tight junctions and
increase para-cellular intestinal fluid secretion. End result is enterocyte death and necrosis.
BEST ACCURATE DX ……………...can be made by nucleic acid amplification (use PCR to
detect genes present in toxigenic strain, highly specific and sensitive.) Enzyme
immunoassay (use antibody to detect C.difficle antigens or toxin . this is highly specific
but less sensitive)
63. Group A streptococcus ……………suspected in those with acute onset of sore throat,
fever, exudate, tonsillo-pharyngtis and no evidence of viral infection (cough, coryza and
conjunctivitis) . In office throat swab with rapid antigen detection (immunoassay for
GAS antigens) can provide immediate microbe identification and imitation of early
treatment.
64.Staph aerous …………...produce leucocidin which is a protease and responsible for soft
tissue and skin abscess by S aerous. This virulence factor is Methicillin resistant
65. Purulent cellulitis …………...in which there is fluctuant nodule and purulent discharge,
is caused by S. aerous
66. Non purulent cellulitis…………in which there is no fluctuant nodule or discharge, is
caused by strep pyogens
DR-KHAN (YASIR) 14
67. Mycoplasma pneumonia …………...has no cell wall and important THING is that
x-ray findings are worse the clinical finding. Patient has nonproductive cough and diffuse
or patchy infiltrates. This organism require cholesterol to grow
68. Ankylostoma spp ( necator americanus)……………hook worm infection , transmitted
via direct contact between human skin and contaminated soil/sand ( walking bare foot
). Dermal penetration is often characterized by an intensely pruritic papule that may
form serpiginous tracks due to subcutaneous migration of hookworm larvae
69. Empyema………...accumulation of pus within pleural space due to bacterial
translocation from alveoli in to pleural space. It usually represents an advanced
progression TO complicated Para pneumonic effusion. PH <7.2, GLUCOSE <60, WBC
>5000 and AB and drainage should be done. In uncomplicated Para pneumonic
effusion, the lab values are opposite and just u need to give them Antibiotic
70. Clostridium tetany………………. puncture wound -------------------Tetanospasmin
release---------------run to motor neuron presynaptic terminals -------------spinal cord
at level of ANT horn block GABA and glycine inhibitory neurons
71. Rabies ………………. bite wound-----------peripheral nerves--------------CNS neuron
DR-KHAN (YASIR) 15
72. Tenofivir …………. NRTI can cause Acute kidney injury (elevated CR and water retention)
and proximal tubule dysfunction (Dec phosphate, glycosuria, proteinuria.) Histology
show damage to PCT (loss of brush border and membrane denudation) and evidence of
giant mitochondria (large eosinophilic inclusions). TX is stop the drug
73. S.pyogens ………..Major virulence factor is M protein which is homologous to
tropomyosin and myosin . Ab against M protein form shortly after acute infection and
may cross react with epitopes on myosin, leading to rheumatic Carditis
74. Bacillus anthrax………….one of the virulence is Edema factor which is
calumodlin dependent adenylate cyclase that is responsible for edematous border of
black eschar. Bordetella pertussis also produce pertussis toxin which is adenylate
cyclase toxin and mechanism of both toxins are similar.
75. HIV…………………the emergence of new predominant strain with mutation to the Pol
gene indicates that patient has become resistant to antiretroviral therapy. Majority of
these resistance is caused by inconsistent anti-retroviral drug use.
76. Intracellular bacterial pathogen………………. like TB and legionella pneumonia are
primarily encountered by the cell mediated immune response. These pathogens
replicate within phagosome, trigger activation of CD4 helper T-cell--------differentiation
DR-KHAN (YASIR) 16
to TH1 helper cells that cause the release of interferon gamma that produce
macrophage. In contrast, Extracellular pathogen like H.Influenza, S.aerous or Strep
pneumonia are extracellular. The immune response to these organisms are mediated by
NEUTROPHIL in early stage and Humeral antibody response (B lymphocyte,
Immunoglobins and Optsonization and Compliments) as the time goes on.
77. IGA protease is produced by ……………Neisseria, Pneumonia, H.Influenza
78. HBV…………...Infants born to mother who are HBeAg + has > 90% chances of acquiring
infection. Viral replication occurs rapidly in infants bcz of immune response immaturity.
Thus infected infants has high viral load and positive HBeAG. Due to the immaturity of
immune response the Anti HBsAG is negative and also bcz of immune immaturity, infants
enter an immune tolerant phase which limits hepatocyte damage thus no/little raise in
liver enzymes
79. Vibrio cholera ………….is oxidase positive, coma shaped gram – rods. It is sensitive to
stomach acid so patient on PPI are at risk
80. Vibrio vulnificus…………. gram negative, curved roods. Free living in salt water
(Marine environment).. Transmitted by ingestion of raw oysters and wound infection.
Increased risk in those with LIVER DISEASE & IRON OVERLOAD. WITHIN 12 HOURS
DR-KHAN (YASIR) 17
PROGRESS TO ……………septicemia (septic shock and bullous lesion) and cellulitis
(hemorrhagic bullae and necrotizing fasciitis). TX. Urgent AB, surgery and BP control
81. Dengue fever……………flue like febrile illness with marked myalgia, joint pain, retro
orbital pain and rash. It is caused by Aedes Mosquito which is also the vector for
Chickenguniya virus
82. H.influenza ………….Non typeable ( Unencapsulated ) are the causes of otitis media,
conjunctivitis and bronchitis. Typeable-Hib (encapsulated(PRP)) can cause invasive
disease LIKE -Meningitis, Epiglottitis, Pneumonia) if the person is not fully vaccinated
with Hib typeable vaccine, which is conjugated with diphtheria toxoid or other proteins
and induce a T cell dependent immune response . Given between 2 and 18 months of
age
83. Ectopic pregnancy ……………. Most common risk factor is tubal scarring which is mostly
due to upper genital tract infection either due to N.gonorhea or C.trachomatas
84. Cryptococcus neoformans……………. narrow budding, encapsulated (round/oval
yeast with thick capsule) yeast, non-dimorphic. In Indian ink appear as Clear zone
and on Mucicarmine stain appear as RED inner capsule. Latex agglutination test to
DR-KHAN (YASIR) 18
detect polysaccharide antigen is more specific and sensitive. Can cause pneumonia in
immunocompromised/transplant patient.
85. HIV………………impair the cell mediated immune response and therefore S.Pneumonia
can be the most common organism CAUSING pneumonia in HIV, same as in NON –HIV
patient . It presents with acute onset of fever, productive cough, leukocytosis and sign of
lobar consolidation (dullness to percussion and crackles). Therefore, immunized the HIV
patients with Pneumococcal vaccine
86. HIV……………….in patient with HIV + multiple ring enhancing lesions +mass effect
points toward Toxoplasmosis. TX with Sulfadiazine+Pyrimethamine (pyrimethamine
and clindamycin if allergic to sulfa drugs)
87. EBV ………………...cause primary CNS lymphomas with ring enhancing solitary lesion.
Although EBV infection in general is associated with abnormal T-lymphocyte, T-CELL
infiltration is not commonly seen in brain biopsy of patient with HIV who have PCNSL.
THUS, Abnormal cell in HIV associated patient are B-lymphocyte
88. Febrile neutropenia…………………. Patient who are on immunosuppressive therapy
plus absolute neutrophil count of <500 are at risk of Gram positive organisms, but
DR-KHAN (YASIR) 19
patient with profound and prolong neutropenia are more at risk of fungal infection like
Invasive aspargellosis
89. Mycoplasma pneumonia ……………. cause Walking pneumonia. It attack respiratory
epithelium and bind to an oligosaccharide (I-antigen) that is also present on surface of
erythrocytes. This lead to formation of cross reacting IgM antibodies that attach to RBC,
activate the complement and lyse the RBC. These patient develop mild anemia which
resolves 6-8 weeks after infection as IgM AB titers decline
90. E. COLI……………………. Represent the most common cause of UTI bacteremia
91. Enterovirus ……………………. risk is infant and young children during summer camp.
Can cause Herpangina (mouth blisters and fever), Hand, Foot, Mouth disease (oral
enathem-vesicles/ulcers on tongue and buccal mucosa, Vesicular/Papular exanthema
in hand, foots, buttocks, legs). Can progress to myocarditis and aseptic meningitis
92. Rota virus …………………. from a Reovirus family which is segmented Ds RNA virus
and most important cause of infantile non inflammatory gastroenteritis .It invades the
villous epithelium in duodenum and proximal jejunum. Diarrhea is due to villous
destruction and atrophy, proliferation of secretary type of cells and reduced brush
border enzymes. End result is decrease absorption of Na & loss of K
DR-KHAN (YASIR) 20
93. Peptidoglycan ……………Main component of bacterial cell wall in both gram+ and
gram – bacteria. It is composed of linear glycan chain of 2 alternating sugars N-acetyl-
glucosamine and N-acetyl-muramic acid, that are cross linked by short peptides. The
enzymes glucosyltransferase is a crucial component of peptidoglycan synthesis.
Inhibition of this enzymes cause breaks in cell wall, resulting in loss of bacterial shape
and cell lysis from osmotic stress. Although most bacterial cell wall is made up of
peptidoglycans, organisms from the mycoplasma genus (urea plasma urealyticum, M.
hominies) completely lack cell wall. These pathogens are separated from the
surrounding by single phospholipid bilayer membrane made up of cholesterol (like
human cells). Thus antibacterial agents like cell wall inhibitors (Penicillin,
Cephalosporins , Carbapenims Vancomysin) would be in-effectrive . They are
primarily treated by medication that inhibit bacterial ribosomal function like Macrolide
and tetracycline
94. Adenovirus ……………. Ds DNA virus, cause common self-limiting disease which is
transmitted via feco-oral route or respiratory droplets. Outbreaks is common in
crowded quarters (day care center, military camps). Important manifestation is
Pharyngo-conjunctival fever which is characterized by acute onset of fever, cough,
DR-KHAN (YASIR) 21
congestion, pharyngitis and conjunctivitis. Physical examination shows erythematous
oropharynx, bilateral follicular conjunctival injection and pneumonia (focal crackles)
95. Leptospira interrogans ………………………Cock screw shaped spirochete, founds in
water contaminated with animal urine. Cause Leptospirosis in which there is Flu like
symptoms, myalgia, jaundice, photophobia with conjunctival suffusion (erythema
without exudate). Also cause Weils disease in which there is jaundice and azotemia
from liver and kidney dysfunction, fever, hemorrhage and anemia
96. Disseminated gonococcal infection……………. purulent arthritis of knee, oligo articular
joint pain and few vesiculopustular lesions on extremities. It is the most common
cause of septic arthritis in young, sexually active female. It is due to spread of
N.gonorhea infection from genitourinary system to blood stream. Traid of
Polyarthralgia, Dermatitis, Tenosynovitis
97. Coxiella burneti……………. Cause Q fever, a zoonotic infection occurs in farm worker
exposed to waste from cattle and sheep (Aerosol of cattle/sheep amniotic fluid).
Acute infection is characterized by fever lasting >10days, fatigue, myalgia, severe
headache (retro orbital), photophobia. Pneumonia is the primary sign of acute infection.
Lab show increase LFTs and thrombocytopenia
DR-KHAN (YASIR) 22
98. Tinea Soleum…………. Cause Neurocysticercosis (cystic CNS lesion plus seizures).
Transmitted by ingestion of eggs in food contaminated with human feces.
99. C.diphteria………………Conversion of nontoxic strain to toxic strain is via lysogenic
bacteriophage called Cornephage beta. This Phage insert a tox gene in to C.diphteria
genome which result in bacterial expression of diphtheria AB toxin
100. Contact Precautions…………...is done for MDR (VRE, MRSA), enteric organism
( C.difficile ),Scabies. Infection control measures to be used are …………..Hand hygiene
( with soap and water for C.difficile), gown, non-sterile gloves, private room preferred
101. TB……………transmitted via aerolized droplets ………………inhaled in to the lower
lobe of lung and replicate within the alveoli……………...alveolar macrophage phagocytizes
the pathogen but are unable to eliminate as TB produce cord factor that prevent
phagolysoosome fusion and acidification. This allows uncheck TB proliferation within the
phagosomes of alveolar macrophages within first week……………………. after few weeks
APC display TB antigens and release IL-12 which stimulate naïve CD4 lymphocyte to
differentiate in TH1 helper T cells which release interferon gamma that cause
macrophage activation and cause them to fully form acidified phagolysosomes,
DR-KHAN (YASIR) 23
differentiate into epithelioid cell, release ROS and also responsible for Caseation
necrosis
102. N.meningitis……………..For close contacts , prophylaxis should be done
with……………..Rifampin ( CHILDREN ) , Cipro ( not for children as cause tissue damage )
or ceftriaxone ( not used much nowadays due to painful
administration)………………Vaccination is an important public health strategy but not
used for post exposure prophylaxis
103. Norovirus ……………Common cause of viral gastroenteritis. Outbreak occur in
schools, cruise ships, nursing home. Symptoms include vomiting and watery diarrhea.
Rota virus can also cause these SYMPTOMS but it is less likely to occur these days
due to vaccination
104. Gonorrhea and C. trachomatas ……………………. Can cause mucopurulent
cervicitis which can progress to PID if left untreated. PID then can cause scarring of
fallopian tube leading to ectopic pregnancy and infertility
105. Liver abscess…………...In developing countries commonly caused by parasitic
infection like E.histolytica but in United States, liver abscess is uncommon and can be
caused by bacterial infection .Pyogenic bacteria can take access to liver via following
DR-KHAN (YASIR) 24
routes …………….1. Biliary tract infection (ascending cholangitis by gram – bacteria )
2.Portal vein Pyemia ( bowel and peritoneal sources) 3. Hepatic artery ( Hemeatogenous
–by S.aerous ) 4.Direct invasion from adjacent sources ( peritonitis and cholecystits/
gram – bacilli and enterococci )5. Penetrating trauma or injury
106. Central venous catheter ………………. Infection originating from patient skin
flora and hands of the health care worker is one of the major complication of CVC.
Gram + cocci specially coagulase negative cocci and S. aerous are the major
pathogens. CDC advice following measures………. Hand hygiene with alcohol sanitizer
prior to donning sterile gloves, maximum barrier protection (surgical masks, gown) ,
preparation of insertion site with chlorhexidine antiseptics , use of subclavian or internal
jugular vein as femoral vein has chances of infection , prompt removal of catheter when
no longer needed
107. HIV IN PREGNANAT WOMEN………………. The risk of infection to an infant
born to HIV + mother is very high. Thus all pregnant women should take ART regardless
of their CD4 count. Currently the best regimen is ……………...2 Nucleoside/Nucleotide
Reverse Transcriptase Inhibitor + 3rd drug (NNRTI OR PROTEASE INHIBITOR OR
INTEGRASE INHIBITOR)
DR-KHAN (YASIR) 25
108. HBV ………...HBV DNA integrate in to host genome but this step is not required
for replication. Important step in replication is by Reverse Transcriptase activity which
convert transcribed positive sense SSRNA in to partially dsDNA genome of viral
progeny. In contrast, HIV must integrate to host genome in order to replicate
109. AIDS……………. Most cases of AIDS worldwide are caused by HIV-1. However,
AIDS can also be caused by HIV-2 which is associated with low viral loads, less risk of
transmission and slow progression to AIDS. The diagnosis is often suspected when HIV
patients are incongruent (positive screening serology but indeterminate western blot
and negative plasma HIV RNA. Confirmation can be done by HIV1/HIV2
immunodiffrentation assay
110. Nosocomial infections…………Are usually associated with IV catheters which
can be caused by skin commensals like coagulase negative staphylococci and S. aerous
to enter blood stream.
111. Measles virus (Rubeola ) and Mumps…………….From Paramyxoviruses family
112. Rubella………………...From Togavirus family
113. Plasmodium falciparum………………. Mefloquine prophylaxis for malaria must
be done for 4 weeks upon returning from an endemic area. This is because that
DR-KHAN (YASIR) 26
Mefloquine is schizontizide which destroy replicating parasite within RBC. But it is
inactivated in liver and has no efficacy against hepatic Shizonts. So individuals who
doesn’t take Mefloquine for 4week upon arrival are at risk of hepatic Shizonts release
and subsequent RBC infection, leading to Symptoms of malaria.
114. Plasmodium Ovale/vivax………………...Unlike P.falciparum , plasmodium
vivax/ovale sporozoites can undergo dormant Hepatic phase ( Hypnozoite stage ) that
may cause recurrent parasatimeia and symptoms weeks/months after initial infection..
Thus, individuals with these strains of malaria must be treated with drug that target both
erythrocyte phase (chloroquine) and dormant hepatic phase (Primaquine) to ensure
clearance. Patient who are treated with a drug that only target erythrocyte phase may
initially improve but are likely to develop recurrent symptoms when the dormant
hypnozoite reactivates
115. Giardia lamblia…………...Immune response against G.lamblia inovolve CD4 +T
CELL production of secretory IGA . Secretory IgA prevent and clear infection by binding
to trophoziote and impairing the adherence to the upper small bowel mucosa. Thus
children with IgA deficiency, X-linked agammaglubinemia and common variable immune
deficiency are particularly at risk of persistent infection
DR-KHAN (YASIR) 27
116. Influenza …………Enveloped, Orthomyxovirus, segmented negative sense,
ssRNA genome. Abrupt onset of rhinorrhea, cough, sore throat, fever, malaise, myalgia
and headache.
117. Enveloped /Non enveloped viruses………………Alcohol based disinfectant
destroy enveloped viruses by dissolving their outer lipid envelope whereas non-
enveloped viruses are less susceptible to some alcohol based disinfectants because they
do not have lipid envelop to target
118. Ehrlichia chaffeensis ……………Vector is tick, spread to tissue rich in
mononuclear cells (bone marrow, lymph node, liver, spleen) leading to nonspecific
symptoms (fever, chills, myalgia) maculopapular rash and significant lab abnormalities
(lymphopenia, thrombocytopenia, elevated LFTS). MICROSCOPIC EVALUATION of
blood demonstrate a MULL-BERRY shape intracytoplasmic inclusion in monocytes. TX
is with doxacycline
119. Rocky mountain spotted fever…………...Traid of Fever, headache and 3-5 days
later maculopapular rash. Rash starts at ankle/wrist spread forward to center of body
(centripetally) as well to palm/soles. TX is with doxycycline that inhibit protein synthesis
by binding to 30s ribosomal subunit.
DR-KHAN (YASIR) 28
120. Autoclave …………...is a pressure cooker that use heated steam at temperature
of 134c to rapidly destroy pathogenic bacteria. Lower temperature is often associated
with inadequate sterilization due to the presence of spore forming bacteria like
clostridium and bacillus anthrax (SPORE FORMING BACTERIA CAN SURVICE BOILING
TEMPRATURE THAT IS 100C). SO autoclave must be at above 100c to destroy spore
forming
121. Asplenic patients are prone to infections caused …………………...encapsulated
organisms( S.pneumoniae- H. Influenzae- N.Meningitidis)
122. A 34y/o M w/ HIV comes into to the office with a single hard mass w/
superficial ulceration noted in the anal canal. No hemorrhoids are present. What is
the likely diagnosis? what pathogen is likely responsible for the anal
pathology……………………………He likely has anal squamous cell carcinoma caused by
the human papillomavirus specifically types 16 and 18.
123. What is the most likely mechanism responsible for the antiseptic properties
of alcohol…………………. disruption of cell membranes and denaturation of proteins ( it is
not sporicidal)
DR-KHAN (YASIR) 29
of Chlorhexidine…………………Disruption of cell membranes and coagulation of
cytoplasm (It is not sporicidal)
of Hydrogen Peroxide……………...Produces destructive free radicals that oxidize cellular
components (It is sporicidal)
126. Interferon-gamma release assays can test for what……………latent tuberculosis
infection by measuring the amount of IFN-gamma released by T lymphocytes when
exposed to antigens unique to Mycobacterium tuberculosis
127. What is the offending pathogen in HIV-associated esophagitis with patches
of adherent, grey/white pseudo membranes on erythematous mucosa? Microscopic
findings……………...Candida albican (Yeast cells and pseudo hyphae invading mucosal
cells)
128. What is the offending pathogen in HIV-associated esophagitis w/ small
vesicles that look like punched out ulcers? Microscopic
findings……………………....HSV-1 ( eosinophilic intracnuclear inclusions (Cowdry type
A) in multinuclear squamous cells at ulcer margins)
DR-KHAN (YASIR) 30
129. What is the offending pathogen in HIV-associated esophagitis w/ linear
ulcerations and esophageal hyperemia? Microscopic findings?..................CMV (
intranuclear and cytoplasmic inclusions)
130. A patient present with fever, malaise, and maculopapular rash that includes
the palms and soles. The patient’s serum is added to a mixture of cardiolipin,
lecithin, and cholesterol and extensive flocculation is observed. What is the most
likely organism…………? Treponema Pallidum ( Must confirm w/ antibodes directed
against treponema)
131. A patient who grew up in rural Guatemala presents w/ no underlying
immunocompromising conditions because he had a seizure and on MRI is found to
have a cystic brain lesion. What is the most likely diagnosis and what is it caused
by…………...Neurocysticercosis caused by Taenia solium, the pork tapeworm which is
acquired by ingestion of tinea solium egss excreted in feces of human. TX albendazole
132. Recurrence of genital herpes (HSV-2) can be reduced through daily treatment
of what…………oral valacyclovir, acyclovir, or famciclovir.
133. Why is there a rapid onset of symptoms in patients who eat potato salad or
other mayonaise containing foods contaminated with Staph
exotoxin…………Because it is a preformed exotoxin, formed prior to ingestion
DR-KHAN (YASIR) 31
134. What is the most common eye condition found in neonates exposed to
congenital CMV………….chorioretinitis
135. What is the offending pathogen in a young child presenting with malaise,
fever, congestion followed by a very red rash on the cheeks with a lacy, reticular
body rash…………...…? Parvovirus B19
136. Parvovirus B19 replicates in progenitors of which cell line and replicates,
predominantly where………….…...RBC (erythrocytes), Highly tropic for erythroid
precursor cells and replicates predominantly in the bone marrow
137. What is the main toxin of C. perfringens and how does mediate the necrotic
effects of gas gangrene………….Lecithinase ( also known as phospholipase C or alpha
toxin, catalyzes the splitting of phospholipid molecules by degrading lecithin (a
component of cellular phospholipid membranes)
138. Acute bacterial parotitis occurs more commonly in elderly post-op patients
who are intubated or dehydrated. What is the most common bacterial etiology?
How is the diagnosis confirmed…………Staph aureus (Imaging and an elevated serum
amylase w/ a normal serum lipase level and no evidence of pancreatitis (the parotid gland
secretes amylase)
DR-KHAN (YASIR) 32
139. A patient present with signs and symptoms of bacteremia. If blood cultures
were positive for E. coli where was the most likely site of infection that led to
bacteremia in this patient………….... Urinary tract (UTIs are the most common cause of
E. coli bacteremia)
140. Patients w/ inherited deficiencies of the terminal complement components
(C5b-C9) are unable to form the membrane attack complex and are predisposed to
what infections……………. Neisseria infections
141. Outbreaks of Listeriosis are frequently associated w/ what………………dairy
products, especially milk, soft cheeses, and ice cream
142. Where is the most commonly MRSA-populated site of the body……………….
anterior nares (25-30% of individuals have nasal colonization for both methicillin-sensitive
and methicillin resistant staph)
143. What are the organisms that can cause diarrhea with only a small
inoculum………………...Shigella flexneri, campylobacter jejuni, Entamoeba histolytica,
and giardia lamblia
144. An infected fetus may develop hydrops fetalis (severe anemia, heart failure,
pleural effusions, pericardial effusions, and ascites) from congenital infection with
DR-KHAN (YASIR) 33
what virus………………………. Parvovirus B19 (no enveloped single-stranded (ss) DNA
virus)
145. What should be considered in a patient w/ febrile illness who resides in
northeastern US w/ possible exposure to the Ixodes ticks? Diagnosis can be
established with the identification of what on peripheral blood
smear…………………….Babesiosis w/ blood smear showing intraerythrocytic ring
inclusions
146. Cornyebacterium diptheriae is cultured on what agar…………...Cysteine-
Tellurite agar (The resultant colonies are black in color)
147. Restlessness, agitation, and dysphagia progressing to coma w/in weeks of
exploring a bat cave is concerning for what…………. Rabies encephalitis
148. An 8y/o M presents w/ 2 day hx of fever, abdominal pain, and diarrhea. He
states that his puppy had diarrhea recently too. His stool is negative for ova and
parasites. What is the likely cause of symptoms…………..Campylobacter species ,Can
be transmitted from domestic animals to humans. It is the Most common cause of acute
gastroenteritis in children and adults in industrialized countries
DR-KHAN (YASIR) 34
149. What is the essential pathogenic mechanism for Shigella
infection……………………Mucosal Invasion. It invades particularly via the M cells that
overlie the Peyer's patches
150. Once Shigella has invaded the mucosa what does it do to spread laterally to
other epithelial cells……………..it spreads via actin polymerization.
151. How does T. cruzi cause achalasia…………..it produces a neurotoxin that
destroys the myenteric plexus and causes intramural, parasympathetic denervation of
smooth muscle.
152. Treatment of an acute C. diphtheriae infection requires administration of
what? (in order of importance) ……………….1. Diphtheria antitoxin (passive
immunization) - most important with greatest effect on prognosis. 2. Penicillin or
erythromycin. 3. DPT vaccine (active immunization)
153. What two diseases are both transmitted via the Ixodes
tick…………….Babesiosis and Lyme disease ( coinfection is common and occur in similar
geographic regions)
154. What should be suspected in patients w/ new or worsening back pain, fever
and recent endocarditis or bacteremia (especially w/ staph aureus)
DR-KHAN (YASIR) 35
……………...Vertebral osteomyelitis, confirmed by MRI. (It should be suspected if there
are new neuro findings and fever w/ or w/o back pain)
155. What are the two main virulence factors of Bacillus
anthracis…………………………..1. an antiphagocytic poly-gama-D-glutamic acid
capsule. 2. the anthrax exotoxin
156. The toxin causing edema produced by the bacillus anthracis bacterium is
most similar to a different toxin produced by what bacteria………………Bordatella
pertussis and its adenylate cyclase toxin
157. The anthrax exotoxin from bacillus anthracis has two factors. What are they
and how do they work………………? Edema Factor: Increase cAMP concentration by
acting as an adenylate cyclase, causing edema and phagocytic dysfunction. Lethal factor:
a zinc-dependent protease that inhibits mitogen-activated protein kinase signaling,
causing apoptosis and multisystem physiologic disruption
158. Bordetella pertussis has two toxins. what are they and how do they
work…………….…Pertussis Toxin: Disinhibits adenylate cyclase thru Gi ADP-ribosylation,
increasing cAMP levels, causing edema and phagocyte dysfunction. Adenylate cyclase
DR-KHAN (YASIR) 36
toxin: functions as an adenylate cyclase, increasing cAMP levels; causes edema and
phagocyte dysfunction
159. How do the two toxins produce by clostridium difficile
work……………………………………………...…. Toxin A: Recruits and activates neutrophils,
leading to release of cytokines that cause mucosal inflammation, fluid loss, and diarrhea.
Toxin B: induces actin depolymerization, leading to mucosal cell death, bowel wall
necrosis, and pseudo membrane formation.
160. How do the toxins produce by strep pyogenes work…….………Pyrogenic
exotoxin: Acts as a super antigen, inducing fever and shock; associated w/ scarlet fever
and strep toxic shock syndrome. Streptolysis O&S: damages erythrocyte membranes,
causing beta-hemolysis
161. A patient is treated for presumed mycoplasma pneumonia. Two month later,
all of his symptoms and the anemia have resolved. What best explains the resolution
of the patients anemia…………………...Fading of the immune response
162. A sample bacterium is placed on an antibiotic-containing medium, and
bacterial colonies are cultured. What term best describes the
medium……………...selective
DR-KHAN (YASIR) 37
163. What media contain special growth factors required for some organisms?
Example…………...Enrichment media Example: X and V factors required by haemophilus
or the anaerobic conditions needed for clostridium species
164. What antibiotic is a macrocyclic antibiotic that inhibits the sigma subunit of
RNA polymerase leading to protein synthesis impairment and is used to treat
C. diff…………………. Fidaxomicin
165. A single-stranded RNA virus has 4 different serotypes. Infection can be
asymptomatic or cause self-limited disease in most adults. Secondary infection is
due to infection with a different viral serotype and usually causes more severe
illness. What virus is this…………………..Dengue Virus
166. Initial empiric treatment of coagulase-negative staphylococcal infection
should include what…………………………...Vancomycin due to widespread methicillin
resistance, especially in nosocomial infections. If susceptibility results indicate a
methicillin-susceptible isolate, vancomycin can be switch nafcillin or oxacillin
167. Inactivated killed vaccine……………………Polio, Hepatitis A
168. Toxoid vaccine (inactivated toxin) …………………. Diphtheria, tetanus
DR-KHAN (YASIR) 38
169. Subunit/conjugate vaccines………………...Hepatitis B, pertussis, Haemophilus
type B, pneumococcal, meningococcal, human papillomavirus, and influenza (injection)
170. Live attenuated…………………. Rotavirus, measles, mumps, rubella, varicella,
influenza (intranasal)
171. An organism must be cultured on buffered charcoal yeast extract (BCYE) agar
supplemented with L-cysteine and iron. What is it……………Legionella pneumophila,
an intracellular motile rod that stains faintly w/ gram stain.
172. A patient is thought to have tuberculosis. Sputum culture is obtained. When
exposed to drug A, isolates of the pathogen growing in culture quickly become less
resistant to decoloration w/ an acid-alcohol agent and stop proliferating. What is
the drug A……………………? Isoniazid, which inhibits mycolic acid synthesis which is
essential for the walls of mycobacterium. W/o the proper cell wall they are unable to
synthesize new cell walls or multiply
173. Motile-gram negative rods demonstrating a green metallic sheen on eosin
methylene blue (EMB) agar and hemolysis on blood agar………….…...E. coli
174. Skin slipping off w/ gentle pressure (Nikolsky's sign), epidermal necrolysis,
fever, and pain associated w/ the skin rash are major symptoms of
DR-KHAN (YASIR) 39
what…………………...Staphylococcal scalded skin syndrome (-most commonly occurs in
infants and children-)
175. Bacterial DNA replication protein (Unwinding of double helix)
…………Helicase
176. Bacterial DNA replication proteins (Removal of
supercoils………………Topoisomerase II (DNA gyrase)
177. Bacterial DNA replication proteins (Stabilization of unwound template
strands)……………Single-stranded DNA-binding protein
178. Bacterial DNA replication proteins (Synthesis of RNA primer) ………….Primase
(RNA polymerase)
179. Bacterial DNA replication proteins (5' to 3' synthesis and 3' to 5' exonuclease
("proofreading") activity)…………….DNA polymerase III
180. Bacterial DNA replication proteins (5' to 3' synthesis and 3' to 5' exonuclease
("proofreading" activity) Also (removes RNA primer (5' to 3' exonuclease activity)
and replaces it with DNA)…………………..DNA polymerase I
181. Bacterial DNA replication protein (Joining okazaki fragments (lagging strand)
………………………. DNA ligase
DR-KHAN (YASIR) 40
182. Individual bacterial colonies are isolated to identify a mutant strain that lacks
a specific enzyme involved in DNA replication. This specific enzyme is responsible
for removing short fragments of RNA that are based paired to the DNA template.
Which enzyme is it…………………………...DNA polymerase I
183. Spilling of liver cyst contents, caused by echinococcus, during surgical
removal can cause what………………. Anaphylatic shock-surgical manipulation should
be performed w/ caution
184. A patient allergic to Vancomycin has MRSA, what are two other options and
their MOA……………………Daptomycin - depolarizes cell membrane by creating
transmembrane channels. SE: Myopathy and CPK elevation. Inactivated by surfactant.
Linezolid - Inhibits bacterial protein synthesis by binding to 50S subunit. SE:
thrombocytopenia, optic neuritis, risk of serotonin syndrome.
185. Antifungal targets: Polyenes - amphotericin B and Nystatin…………..Bind to
ergosterol molecules in fungal cell membranes creating pores and causing cell lysis
186. Antifungal targets:Triazoles - ketoconazaole, Fluconazole,
Itraconazole…………………inhibit the synthesis of ergosterol
DR-KHAN (YASIR) 41
187. Antifungal targets: Echinocandins - Capsofungin, micafungin…………Inhibit
the synthesis of glucan, a component of the fungal cell wall
188. Antifungal targets:Pyrimidines – Flycytosine……………….The only agent in this
class, Converted to 5-fluorouracil w/in the fungal cell and interferes w/ fungal RNA and
protein synthesis
189. Ganciclovir MOA………………….a guanine nucleoside analogue structurally
similar to acyclovir, is often used for CMV infections. It requires intracellular conversion
by a virally encoded kinase and then by cellular kinases
190. What is used for treatment in HIV patients with CMV w/ ganciclovir resistance
or refractory thrombocytopenia and what is its MOA…………………. Foscarnet a
pyrophosphate analog that does not require intracellular activation, it directly inhibits
both DNA polymerase in herpesvirus and reverse transcriptase in HIV
191. Gram-negative sepsis is caused by the release of LPS from bacterial cells
during division or by bacteriolysis; LPS is NOT actively secreted by bacteria. What is
the toxic component of LPS……………….Lipid A-causes activation of Macrophages
leading to widespread release of IL-1 and TNF-alpha, which cause the signs and symptoms
of septic shock
DR-KHAN (YASIR) 42
192. Resistance to Isoniazid occurs how………………. Decreased acitivity of bacterial
catalase-peroxidase
DR-KHAN (YASIR) 43
PSYCHIATRY POINTS (FROM
UWORLD AND FA)
1. Panic disorder…………………...first line tx is SSRI/SNRI/CBT. For acute distress give benzodiazepines
2. PTSD……………. first line treatment is trauma-focused CBT and SSRIs (work by inhibiting serotonin
transporter protein, which is normally responsible for transporting serotonin out of the synaptic cleft back
to the pre synaptic neuron)
3. MDD……………………patient experiencing major depressive episodes should be screened for MANIA and if
history substantiates a diagnosis of bipolar disorder than antidepressant monotherapy should be avoided
as all anti-depressant carry risk of mania attack
4. Classical conditioning…………………. neutral stimulus being repeatedly paired with a non-neutral stimulus
that elect a reflex unconditioned response. Overtime, the formerly neutral stimulus is able to evoke a
conditioned response by itself in absence of non-neutral stimulus. (qid…..1729)
5. Methadone …………………is a long acting, full mu-opioid receptor agonist, used for withdrawal and
maintenance of opioid use disorder. It has long half-life that provide benefits by suppressing cravings, has
good bioavailability. Adverse effect includes QT prolongation and respiratory depression.
6. 2nd generation anti psychotics…………………are associated with low risk of EPS as compared to first
generation but can cause adverse metabolic effects and weight gains.
7. Schizoaffective disorder………………share symptoms with both schizophrenia and mood disorder (bipolar
and MDD) but for diagnosis patient must have >2 weeks of psychotic symptoms without a manic and
depressive episode
DR-KHAN (YASIR) 1
UWORLD AND FA)
8.
9. Phencyclidine……………….an NMDA receptor antagonist and also block the reuptake of dopamine,
serotonin and nerepinipherne . Ataxia, vertical and horizontal nystagmus, violence, impulsivity is present.
Most common complication is trauma
10.MAOi (phenelizine)……………………are useful for treatment resistant MDD and atypical depression
(increased appetite/sleep, leaden paralysis, rejection sensitivity and mood reactivity). Remember, patient
taking MAOi must be cognitively intact and should avoid tyramine rich foods
11.Sucide risk assessment…………………include consideration of both risk and protective factors. A history of
previous succidal attempts is the strongest single risk factor for further attempts. Individual with access
to firearms has 3 times more risk for suicide completion. Thus limiting the patient access to firearm is the
next important step in to decrease the risk.
DR-KHAN (YASIR) 2
UWORLD AND FA)
12.Specific learning disorder……………...characterized by difficulty with key academic skills (reading, writing,
math’s), resulting in performance below expectations for age. Many children display anxiety, inattention,
defiance and hyperactivity when under stress to perform in an area of weakness. Genral functioning and
intelligence are normal (vs intellectual disability)
13.Social anxiety disorder…………………. involves excessive fear of scrutiny or embarrassment in social or
performance situations, resulting in significant distress and functional impairment
14.Schizophrenia………………...positive symptoms (delusions, hallucination) are due to excess dopamine
activity in mesolimbic system whereas negative symptoms (flat/blunted affect (lack of facial expression
and a monotone voice with less eye to eye contact), apathy, anhedonia, alogia , social withdawl) are due to
excess dopamine in mesocortical pathway
15.Bipolar 1 disorder…………………. characterized by >1 episodes of mania. Manic episodes are characterized
by elevated mood, impulsivity, hyperactivity, decreased need for sleep, pressured speech and grandiosity
and may occur with psychotic features. Bipolar 2 disorder is characterized by hypomanic episode (less
severe thn mania and without psychotic features) and major depressive episodes
16.Wilson disease …………………...Cu accumulation in liver, brain and cornea.it can present in childhood and
adolscent with abnormal LFT and neuropsychiatric symptoms, which include personality changes,
depression, mania or psychosis.
DR-KHAN (YASIR) 3
UWORLD AND FA)
17.In order to make dx of dementia……………. the person must exhibit impairment in >1 cognitive domains as
well as functional impairment in daily activities of living ( bathing/shopping/cooking)
18.Specific phobia ………………………excessive anxiety about specific object or situation. Exposure based –CBT
is the long term effective treatment
19.Premature ejaculation………………..characterized by recurrent episode of early ejaculation accompanied
by sense of lack of control. Only around 4% people meet the criteria of (ejaculation within one minute of
penetration, occurring most of the time for around 6 months.)
DR-KHAN (YASIR) 4
UWORLD AND FA)
20.Alzheimer disease………………………history of forgetfulness and functional impairment followed by
development of psychotic symptoms (delusion and hallucination, which increase with severity of the
disease )
21.Huntington disease……………. progressive neurodegenerative disorder characterized by chorea (rapid and
unpredictable contractions affecting most distal limbs) , psychiatric symptoms and dementia . Psychiatric
symptoms may coour early in the disease (prior to the onset of chorea) and include irritability,
anxiety,apathy, depression, and psychosis.
22.Delirium………………. frequently associated with psychotic symptoms of acute onset. It is common post
operatively and or in the settting of new or worsening infection. It may also occur due to introduction of
new medicine (opiod, benzo, anti-cholinergic). Elder people are at higher risk.
23.Cocaine intoxication………………can produce psychotic symptoms (paranoid delusion), euphoria and
agitation, tachycardia, mydrasis, diaphoresis
24.Cocaine withdrawal…………………. acute depressive episodes, hyperphagia, hypersomnia, fatigue and vivid
dreams
25.Opioid withdrawal……………. present with Gi distress like nausea, diarrhea, abdominal cramping, myalgia,
mydrasis, piloerection, and lacrimation and no psychotic features
26.Autism spectrum disordr………………defect in social communication and reciprocal social interaction,
restricted/repetetive interest/movments. May occur with/without language or intellectual impairment.
DR-KHAN (YASIR) 5
UWORLD AND FA)
27.Adolescents …………………have low treatment adherence due to issue with autonomy, rebellion and lack of
understanding of potential risks. Peer behavior has a strong influence on adherence due to adolescent
desire to fit in with social group
28.Oppositional defiant disorder…………………pattern of angry/irritable mood, argumentative behavior, or
vindictiveness >6 months. Also argue with adult, defies authority figures, refuse to follow rules, annoy
others, blames others for own mistakes, easily annoyed/angered
29.Delusional disorder…………………...>1 delusion for >1 months, other psychotic symptoms absent or not
prominent. Behavior is not obviously bizarre and functioning is not significantly impaired apart from the
direct impact of delusion
30.
DR-KHAN (YASIR) 6
UWORLD AND FA)
31.Maintenance therapy for mania/bipolar disorder……………. lithium, valporate,lamotrigine and 2nd
generation anti-psychotic ( quetiapine)
32.Passive aggression……………patient indirect expression of anger
33.Persistant depressive disorder (dysthymia)…………………………...>2 depressive symptoms lasting >2years,
with no absence of symptoms for >2months.
DR-KHAN (YASIR) 7
UWORLD AND FA)
34.Stages of change………………precontemplation (not thinking about behavior modification), contemplation
(thinking about behaviors modification but unwilling to change), preparation (planning for behavior
modification), action (putting plane in to action/active changes are made like patient enter treatment to
reduce drinking), maintenance (maintaining new behaviors)
35.Displacement …………………...negative feeling associated with person/situation are transferred to less
threatening person/object
36.Tourette syndrome …………………...onset age <18 years. , Multiple motor tics( facial grimacing ,blinking,
head/neck jerking , shoulder shrugging , tongue protrusion , snuffing and >1 vocal tics ( grunting, snorting,
throat clearing ,barking ,yelling)
37.Inhalant intoxication……………….in the form of glue, toluene, nitrous oxide, amyl nitrate are the first drugs
that adult misuse bcz of its cheap price and easy availability. Immediate onset of euphoria, lethargy,
ataxia and loss of consciousness followed by rapid recovery within 45 minutes. Perioral and peri nasal
dermatitis (glue sniffer rash) may be seen in chronic users. Complication include cardiac arrhythmia,
seizure and death. Nitrous oxide use in particularly is associated with vit b12 deficiency and resultant
symptoms of polyneuropathy
38.Benzodiazepines…………………when used for GAD disorder, drug selection should consider the medication
duration of action. Short acting (triazolam, midazolam), intermediate acting (oxazepam, alprazolam,
DR-KHAN (YASIR) 8
UWORLD AND FA)
lorazepam, clonazepam) are preferred in situations in which prolong side effect of sedation and cognitive
impairment must be minimized.
39.GAD……………………first line treatment is SSRIs and SNRIs and CBT. 2nd line treatment is buspirone (partial
serotonin agonist and cause no dependence) and benzodiazepines.
40.Depression related cognitive impairment (pseudo dementia) …………cognitive impairment that occur in
context of MDD. The cognitive impairment should resolve with adequate treatment of depression as
compared to pure dementia in which cognitive impairment is irreversible
41.Bereavement………………. preschool children<6 years may not understand the finality of death and can
exhibit magical thinking in which they fully expect that a dead person can come back to life. Death
should be explained to them in correct terms and they should be reassured that other people grief is not
their fault
42.Normal sadness………………. mild or brief sadness without significant interference in psychosocial
functioning is consistent with normal stress.
43.Counter transference………………. consist of a provider response (attitude, thoughts, feeling, behaviors)
towards a patient based on past personal relationship. If unrecognized it can have an impact on patient
care. Transference is patient’s reaction to the provider
44.Ret syndrome………………. MECP2 gene mutation that encode X chromosome. Neuropathology is
consisting with arrested brain development. X-linked genetic disorder characterized by initial normal
DR-KHAN (YASIR) 9
UWORLD AND FA)
development until age 6-18months, when regression of speech, loss of purposeful hand movements,
development of stereotypical movements (clapping) and gait abnormalities occur. Deceleration of head
growth is classical sign if present.
45.
46.Acute stress disorder………………. between 3 days and 1 months. Characterized by intrusive experiences
(flash backs/night mares), arousal (poor concentration, restless sleep), dissociative symptoms and
avoidance of traumatic reminders as well as mood disturbances in response to life threatening trauma.
47.Anti-depressant ………………takes 4-6 weeks to achieve maximal clinical effect.
48.Psychostimulants (Amphetamine/methylphenidate) ……………. are the first line treatment for ADHD.
Common side effects include decrease appetite and weight loss
DR-KHAN (YASIR) 10
UWORLD AND FA)
49.Agoraphobia…………………. fear/anxiety while facing or anticipation >2 situations (open/closed spaces,
lines, crowd, public transport). In severe cases, patient may restrict their activities to the point that they
leave home only with a companion or they become completely housebound
50.Schizophrenia vs. Delirium………………………… Schizophrenia--> chronic mental disorder with periods of
psychosis lasting 6+ months with 1 month of active symptoms. Normal cognition, normal mood, normal
LOC. Delirium: impaired LOC, disorganized thinking, can have psychotic sx but these wax & wane &
are acute. EEG slowing, usually secondary to another illness, reversible
51.Depression in advanced cancer …………………………non somatic symptoms (feeling of worthlessness, guilt,
suicidal ideation, lack of interest) are more reliable for diagnosing depression in patient with advanced
medical illness. This is because somatic symptoms of depression overlaps with those of cancer and adverse
effect of cancer.
52.Alcohol withdrawal symptoms…………………...Ethanol actually potentiates the effect of GABA –A receptors
and also inhibit excitatory NMDA receptors. Chronic use cause down regulation of GABA receptors and
upregulation of NMDA receptors. Within 6-24hrs (tremors (most initial finding), anxiety, insomnia,
palpitation, GI upset, intact orientation), 12-24hrs (tonic-clonic seizure), 12-48hrs (visual, auditory, tactile
hallucinations, intact orientation, stable vital signs), 48-96 hrs (Delirium tremens)
53.Separation anxiety disorder…………………. consist of excessive and distressing anxiety (>4weeks in children
and >6weeks in adult) due to separation from attachment figures. Children with this disorder often
DR-KHAN (YASIR) 11
UWORLD AND FA)
experience physical symptoms (headache, stomach pain, nausea) and night mares involving the theme of
separation
54.Gender difference………………...although children understand the concept of gender by age 4, it is normal
for them to explore activities culturally associated with negative gender. In contrast, gender dysphoria is
diagnosed when there is marked distress associated with a prolong and intense feeling that one is a
different gender from one’s birth sex.
55.2nd generation anti psychotics……………………associated with metabolic syndrome (olanzapine and
clozapine). Thus monitor BMI (monthly), FBS and lipid profile (every 3 months) and waist circumference
(every 3 months)
56.Somatic symptom disorder…………………...best managed with regular scheduled medical visit that are not
contingent on having active symptoms. Unnecessary diagnostic testing and specialist referral should be
avoided
57.ORBITOFRONTAL CORTEX DAMAGE……………………...patient experience personality changes, disinhibition,
and irritability (frank and aggressive behavior) secondary to impairment of the behavioral and emotional
modulatory system
58.Intermittent explosive disorder……………recurrent episodes of explosive verbal and physical aggression.
The aggressive behavior is impulsive and grossly out of proportion to provocation.
DR-KHAN (YASIR) 12
UWORLD AND FA)
59.Body dysmorphic disorder………………involve fixation with perceived defect in appearance that is not
evident or appear slight to others. Patient may believe that they look ugly or hideous due to their
appearance concern, which result in performance of repetitive behavior (excessive mirror checking,
grooming) or mental acts ( eg. comparison with others)
60.Opioids………………in the united states, the majority of overdose death are caused by opioids, including
prescription analgesics and heroin
61.Sexual dysfunction……………….is common in older individuals due to comorbid conditions, medications
side effects and in women menopausal changes. When counselling patient on sexuality, the clinician
should attempt to make them feel comfortable and reassure them that sexual dysfunction is common
and is an appropriate subject of discussion between a patient and physician.
62.ADHD in adults…………...adults with ADHD are less overtly hyperactive but experience chronic problems
with distractibility, disorganization and impulsivity that cause significant social and occupational
impairment
63.Female sexual interest/arousal disorder…………………lack of or significantly reduced, sexual interest or
arousal. Diagnosis require ruling out psychological, medial and substance related cause and relationship
problem.
64.Treatment resistant schizophrenia………………. clozapine is used for this purpose and also used for
schizophrenia associated with suicide
DR-KHAN (YASIR) 13
UWORLD AND FA)
65.Adjustment disorder………………...involves emotional or behavioral symptoms occurring within 3 month of
identifiable stressor and lasting no more than 6 months once the stressor and its consequences ceases.
66.Psychostimulants (amph, meth) ……………Decreased appetite, weight loss, insomnia
67.At 12 months, a child should……………. Gross motor (stands well, walks first steps independently, throws a
ball), Fine motor (2 finger pincer grasp), Language (says first words (other than mama and dada)) ,
Social/cognitive ( separation anxiety, follows 1 step commands with gestures)
68.At age 2 a child should…………………... Language (have a vocabulary of 50-200 words and be able to use 2-
word phrase), Gross motor (walks up and down stairs with both feet on each step; jumps), Fine motor
(builds a tower of 6 cubes, copies a line, Social/cognitive (follows 2 stop commands, parallel play, begins
toilet training)
DR-KHAN (YASIR) 14
UWORLD AND FA)
69.
70.How can linezolid cause serotonin syndrome……………………...linezolid is a non-antidepressant with MAOI
activity, and when combined with a serotonergic medication such as a SSRI or SNRI or TCA, it could lead to
serotonin syndrome
71.The most common causes of death with TCAs overdose is……………. cardiac arrhythmia and refractory
hypotension. This is because of inhibition of the fast sodium channels in cardiac myocytes (and the His-
Purkinje system) is thought to be the major underlying cellular event.
DR-KHAN (YASIR) 15
UWORLD AND FA)
72.Bupropion…………………...…….1. antidepressant. 2. produced effects primarily through inhibition of
reuptake of NEp, Dopamine, and 5-HT. 3. improving concentration + diminished energy in depressed
patients. 4. good choice in YOUNG PTS WHO ARE CONCERNED ABOUT SEXUAL SIDE EFFECTS (LESS SEXUAL
SEs). 5. Decrease seizure threshold - CI IN SEIZURE DISORDER + CONCURRENT ALCOHOL USE + EATING
DISORDERS
73.Buspirone is ………………nonbenzodiazepine anxiolytic used to treat GAD. It has a slow onset of action, lacks
muscle relaxant or anticonvulsant properties and carries no risk of dependence
74.What is common cause of relapse in patients with schizophrenia………………...Noncompliance with
antipsychotic medicating - so give these patients Long acting injectable of either 1st or 2nd generation
75.ECT Indications……………... For severe depression, Depression in pregnancy, Refractory mania, NMS,
Catatonic schizophrenia. Side Effects
1. Retrograde + anterograde Amnesia (MOST COMMON BY FAR)
2. Prolonged seizures, delirium, headache, nausea, skin burns (LESS COMMON, all of these)
3. Muscle soreness
76.Oppositional Defiant Disorder………………………Pattern of angry/irritable mood + argumentative/defiant
behavior toward authority figures. Less severe than conduct disorder + does not include aggression. DO
NOT include aggression toward people or animals, stealing, or destruction of property
DR-KHAN (YASIR) 16
UWORLD AND FA)
77.OCD Treatment…………………………... SSRIs (Paroxetine, Sertraline, Fluoxetine) or Clomipramine = 1st LINE.
2nd line = fluvoxamine
78.Dissociative Fugue………………………….1. unexpected + sudden travel. 2. inability to remember past. 3.
confusion about personal identity. 4. pt. may assume new identity
79.Dissociative Identity Disorder………………………1. presence of >2 identities that control person's behavior.
2. amnesia regarding important personal information about some of the identities
80.Dissociative Amnesia………………...1. presence of one or more episodes of inability to recall important
personal information. 2. memory disturbance is usually related to traumatic or stressful event and is too
extensive to be considered ordinary forgetfulness
81.Depersonalization Disorder……………………1. characterized by persistent or recurrent feelings of
detachment from one own physical or mental processes in context of an intact sense of reality. 2. Patients
tend to feel they are observing their body and thoughts from afar
82.Malingering…………………………. characterized by intentional production of false physical symptoms or
grossly exaggerated physical or psychological complaints for the purpose of SECONDARY GAIN (financial
compensation, avoidance of work, obtaining narcotics)
83.Benzodiazepine Toxicity Treatment………………………flumazenil - beware of precipitating seizures in patients
with history of seizures
DR-KHAN (YASIR) 17
UWORLD AND FA)
84.Folie a Deux…………………….one person's delusion is transferred to another person. Treatment - don't admit
separately - first DETERMINE DEGREE OF IMPAIRMENT OF EACH BY INTERVIEWING EACH SEPARATELY
85.Dopamine Pathways in Schizophrenia……………...1. Mesolimbic – increase dopamine activity here causes
positive symptoms (suppressed by Typical antipsychotics). 2. Mesocortical - increase dopamine here causes
negative symptoms (suppressed by atypical antipsychotics). 3. Nigrostriatal - when antipsychotics cause
decrease dopamine here, note parkinsonian symptoms + EPS symptoms. 4. tuberoinfundibular -
antipsychotics decrease dopamine here to cause hyperprolactinemia, galactorrhea, and amenorrhea,
gynecomastia, and sexual dysfunction
86.
DR-KHAN (YASIR) 18
Basic Pharma (FROM
UWORLD AND FA)
1. Morphine………………generate two metabolites (morphine 3 glucuronide and
morphine 6 glucuronide) that are metabolically active and renally excreted. These
metabolites can accumulate in blood stream of patients with renal dysfunction and
lead to opioid toxicity, evidenced by miosis, respiratory depression and CNS
depression
2. Tolerance ………………. activation of adrenergic receptor result in arrestin binding and
receptor internalization. This effect is responsible for the tolerance effect seen with
alpha adrenergic (decongestants, vasopressor) and beta adrenergic (bronchodilator)
agonists
3. Enzyme replacement therapy…………………. enzymes are large protein that cannot be
orally absorbed so the replacement enzyme must be given IV. Entry to cell occur via
endocytosis after the replacement enzyme bind to mannose 6-po4 receptors on cell
surface
4. Cytochrome P450………………………. enzyme found in liver are responsible for the
majority of drug metabolism. Pleomorphism occurring in gene coding for these
enzymes result in various phenotypes that differ in their rate of metabolism.
Tamoxifen, a selective estrogen receptor modulator used in the treatment of
estrogen receptor positive breast cancer, is a prodrug metabolized by CYP2D to its
active metabolite, endoxifen. Patient with genetic pleomorphism resulting in poor
CYP2D activity are exposed to decreased level of active metabolite and have higher
chance of disease relapse
5. Lipophilic drugs …………………...following IV administration, a highly lipophilic drug
will be rapidly distributed to organs with high blood flow (brain, liver, kidney,
lungs). The drug is then redistributed to tissues with relatively lower blood flow
(SM, fat, bone). This account for short duration of action of many commonly used
anesthetic such as propofol
6. Sustained release preparation…………………. have reduced and delayed peak levels
compared to intermediate release preparation due to slow absorption in GI tract.
This benefit makes the sustained release preparation useful for drugs with short
half-lives (allowing prolong effect without need of multiple doses) or narrow
DR-KHAN (YASIR) 1
Basic Pharma (FROM
UWORLD AND FA)
therapeutic window (maintaining effective drug level while minimizing absorption

peaks)
7. Drug dosing regimens…………………with more frequent dosing have lower peak and
average drug levels, which can help reduce toxicity
8. Monoclonal antibodies ……………………...are not eliminated by hepatic or renal
clearance. But they are cleared via two other mechanisms. Target mediated drug
clearance (Mab directed against cell surface antigen undergo internalization
(receptor mediated endocytosis) upon binding to their targets, removing them from
circulation. Nonspecific clearance (immunoglobulins are taken up by
reticuloendothelial macrophages via binding to FC receptor and vascularized
endothelial cells via pinocytosis. Once internalized, immunoglobulins are catabolized
in to amino acid within lysosome. Thus no dosage adjustment is necessary with
hepatic/Renal dysfunction or use of cytochrome P450 inducers/inhibitors
9. Cyclophosphamide……………hemorrhagic cystitis during therapy with
cyclophosphamide or ifosfamide is caused by the urinary excretion of toxic
metabolite acrolein. It can be prevented by aggressive hydration, bladder irrigation
and administration of mesna, a sulfhydryl compound that bind acrolein in urine
10. Potency………. refer to dose of drug that is required to produce a given effect. Drugs
that bind their receptors with higher affinity will have greater potency
11. Chronic opioid use ……………...leads to development of tolerance to analgesic effect
and most side effect, with the exception of constipation and miosis and this is the
reason that constipation is the most persistent and common opioid side effect. Thus,
treat prophylactically with adequate fluid intake and daily laxatives
12. Antibody drug conjugates………………. improves drug efficacy and minimize toxicity by
allowing conventional chemotherapeutic agent (CISPLATIN), to selectively target and
kill cancer cells while sparing healthy cells (targeted delivery)
13. Tetracyclines…………………. interact with polyvalent cations (iron, calcium,
Magnesium and aluminum) to form non absorbable chelate complexes in the GI
tract. This can lead to significant decrease drug absorption and therapeutic effect.
Fluoroquinolones and thyroxine are also susceptible to chelation.
DR-KHAN (YASIR) 2

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BIOCHEMISTRY POINTS (FROM

UWORLD AND FA)

receptors and DNA transcription and translation proteins

3. Thiamine requiring enzymes …………………………. PDH, Alpha-ketogultarate dehydrogenase (TCA

thiamine dependant enzyme won’t work

dilation with rupture is the most common cause of death

7. DNA polymerase 1 …………………...during bacterial DNA replication, DNA polymerase 1 functions to

9. Steroid producing cells contain …………………..a well developed smooth ER

classical finding is abnormal glycogen with very short outer chains .

as neurotransmitter (GLUTAMATE-GLUTAMINE CYCLE). When excess ammonia is present, it cross

14. In phenylketonuria patient ………………….tyrosine is the essential AA because phenylalaine

(substantia nigra, locus ceruleus and dorsal vagal neuclei)

16. Gluconeogenesis …………………...Acetyl co A stimulate the first step in gluconeogeneis by

stimulating the enzyme pyruvate carboxylase.

autoantibodies against snRNP called anti smith antibody

18.Niemann-pick disease……………deficiency of sphingomyelinase which cause accumulation of

mitochondria, they lose the ability to generate heme and therefore HB

hemoglobin………………HCO3- shifts back into erythrocytes in exchange for chloride, carbonic

erythrocytes……………….H+ buffered by histidine residues on Hb and in process helps stabilize the

deoxygenated form of Hb and decreases affinity for O2

22. Galactokinase deficiency ……………. result in build of up of galactose, which is converted to

23. Homocystinuria ………….is caused by deficiency of cystathionine deficiency. Affected

reduce eryhtroid cell apoptosis

craniofacial abnormalities and hepatomegaly can occur

29. Dihydrobiopetrin reductase deficiency……………...This enzyme is used for conversion of BH2 to

downstream deficiency of epinephrine, norepinephrine, dopamine and serotonin

31. Ornithine transcarbamylase deficiency …………..this enzyme cause conversion of carbamoyl

accumulation of cabamoyl phosphate which lead to pyrimidine synthesis. As an intermediate

orotic aciduria caused by deficiency of uridine monophosphate synthase

and c-Fos), nuclease and hsitone.

labeling them for degradation by proteasome in to small peptides. Impairment of ubiquitin-

proteasome system can contribute to the development of neurodegenerative disorder, including

Parkinson’s and Alzheimer’s disease

stored. It acts on the arcuate nucleus of hypothalamus to inhibit production of neuropeptide Y

factors (erythropoietin, G-CSF)

collagen and laminin.

37. Hormone sensitive lipase…………………...degrades TG stored in adipocytes to FFA and glycerol.

used for ketone body formation

38. Fibrates (fenofibrate, gemfibrozil) ……………PPAR-gamma, leading to up regulation of

gallstones (yellow to pale gray and hard)

ketoacid therefore become AA. Eg:…..glutamate(AA) react with oxaloaccetate( alpha-ketoacid) to

dehydrogenase which can be used to produce glucose via gluconeogenesis

44. Hartnup disease………….AR disorder due to inactivating mutation in neutral AA transporter

Treatment with niacin and protein diet.

typically around -70mv

46. Alkaptonuira ………………congenital deficiency of homegentisate oxidase in the degradative

Treatment is dietry restriction on proteins or medication (phenylacetate) can also work.

specific and can be used on tissue with low mitotic rates.

GMP. Patient presents with intellectual diability , self-mutilation , aggression , hyperurecemia ,

dystonia and macrocytosis

cell won’t be able to generate NAD.

51. Fabrys disease……………. deficiency of alpha-galactosidase A, lead to accumulation of ceramide

trihexoside . Present with triad of peripheral neuropathy, angiokeratoma and hypohidrosis.

Complications include……. progressive renal failure, LVH and TIA/STROKE

to maturity onset diabetes in young.

acting as an electron acceptors of succinate dehydrogenase, which convert succinate to fumarate.

isocitrate dehydrogenase ) and reductase enzymes.

develop in bruises several days after injury.

hydroxylated residue of collagen. Synthesis pathway is same like collagen

movements, Treatment includes an Arg-free, low protein diet

59. Acute intermittent porphyria ……………………autosomal dominant condition that cause

( rate limiting step in heme synthesis ) activity

chronic acidotic state.