I.

Sphingolipidosis:
Complex sphingosine containing phospholipids accumulate.
All disorders comprise a mutant enzyme. Multiple sulfatase deficiency is
the exception and is a post-translational disorder.
A) GM2 gangliosidosis:
 Type A (Tay Sachs disease)
 Type O (Sandhoff disease)
 Type AB (GM2 activator deficiency)
B) Niemann-Pick diseases A, B, and C (transmembrane protein defect
C1, soluble non-enzymatic protein defect C2)
C) Gaucher disease types 1, 2, and 3
D) Fabry disease (classic and late-onset types)
E) Metachromatic leukodystrophy
F) Globoid leukodystrophy (Krabbe disease)
G) GM1 gangliosidosis types 1, 2, and 3
H) Multiple sulfatase deficiency
II. Oligosaccharidosis (glycoproteins; all disorders with mutant enzymes):
 Alfa mannosidosis
 Schindler disease
 Aspartylglucosaminuria
 Fucosidosis
 III. Mucopolysaccharidosis (MPS) (mucopolysaccharides a.k.a
glycosaminoglycans (GAG); all disorders with mutant enzymes):
 Hurler syndrome
 Scheie syndrome
 Hurler-Scheie syndrome
 Hunter syndrome
 SanFilippo syndrome A, B, C, and D
 Morquio syndrome A and B
 Maroteaux-Lamy syndrome
 Sly syndrome
IV. Neuronal ceroid lipofuscinosis (lipofuscin, a waxy pigment):
 CLN 1 through CLN 14
V. Sialic acid disorders (sialic acid):
 Galactosialidosis (enzyme protection protein defect)
 Infantile sialic acid storage disease
 Salla disease (transmembrane protein defect)
 Sialuria
VI. Mucolipidosis (membrane transport protein defect; targeting error):
 Sialidosis I and II (Mucolipidosis I)
 I-cell disease (Mucolipidosis II)
 Pseudo-Hurler-Polydystrophy (Mucolipidosis III)
 Mucolipidosis IV
VII. Miscellaneous:
 Lysosomal Acid lipase deficiency infantile and childhood/adult types
(cholesterol esters, triglycerides)
 Pompe disease (glycogen storage disease type II)
 Danon disease (glycogen)
 Cystinosis (cystine)
Peripheral neuropathy of hands/feet,
Fabry's Disease
angiokeratomas, cardiovascular/renal disease

Hepatosplenomegaly, aseptic necrosis of femur,

bone crises, macrophages that look like crumpled Gaucher's disease
tissue paper

Progressive neurodegeneration,
hepatosplenomegaly, cherry red spot on macula, Neimann Pick
foam cells

Progressive neurodegeneration, developmental

delay, cherry-red spot on macula, lysosomes with Tay-Sachs
onion skin, no hepatosplenomegaly

How do you differenciate Neimann Pick from Tay-

Niemann Pick has Hepatosplenomegaly
Sachs

Alpha galactosidase A deficiency Fabry's Disease

Beta-glucocerebrosidase deficiency Goucher's Disease

Sphingomyelinase deficiency Niemann-Pick

Hexosaminidase A Tay-Sachs

Which ones are AR? Goucher, Niemann Pick, Tay Sachs

Accumulation of GM2 glanglioside Tay-Sachs

Accumulation of ceramide trihexoside? Fabry Disease

Developmental Delay, gargoylism, airway

Hurler's Syndrome
obstruction, corneal clouding, hepatosplenomegaly

How do you differentiate Hurler from Hunter's Aggressive behavior and no corneal clouding in
Syndrome Hunter's Syndrome

alpha-L-iduronidase deficiency Hurler's Syndrome

iduronate sulfatase deficiency Hunter Syndrome

What changes a cytosine into a uracil? a Deaminase

Which base nucleotides contain an extra amino
AdenineCytosine
group?

Which base nucleotide has an extra methyl group? Thymine(THYmine = meTHYl)

Purines: Adenine & Guanine (PURe As

What are the purines?Pyrimidines? Gold)Pyrimidines: Cytosine, Uracil & Thymine
(CUT the Py)

How does Methyltrexate work on DNA? prevents changing a uracil to a thymine

If a sample of DNA has 10% G, how much is the T

10% G + 10% C = 20%therefore 80%/2 = 40% T
%?

CG bonds They have a triple H-bondMelting

Which DNA has a higher melting point?Why?Define
point = 50% double-stranded & 50% single-
melting point.
stranded DNA

What is the charge of Histones?What 2 AA are

PositiveArginine & Lysine
histones abundant in?

what causes chromatin to be tightly packaged?Name

of this type of chromatin? (active or inactive)If it is H-1Heterochromatin - inactivenucleases
not packed tightly, what is it sensitive to?

Endonuclease activation and chromatin

fragmentation are characteristic of cell death by 10 nm fiber(this is the chromosome without the
apoptosis. What nucleic cell structure would most H-1; fiber b/t a nucleosome)
likely be degraded first in an apoptotic cell?

number of origins the prokaryote and eukaryote can

Pro - oneEu - many
begin with regarding DNA replication?

What is the same structure in DNA and RNA

both require a DNA template
synthesis?

Something that helps attach nucleotides via a PDE

Polymerase(Polymer = glue)
bond to make a new nucleic acid

What is needed to begin DNA synthesis?RNA

DNA: RNA primerRNA: nothing
synthesis?

What has the ability to proofread DNA?How and in

DNA polymerase III3' -> 5' Exonuclease
what direction?

What recognizes the Origin of replication in a

Prokaryotic: DNA A proteinEukaryotic: nothing
prokaryotic and eukaryotic cell?
Unwinds DNA in Prokaryotic and eukaryotic cells?
Helicase(requires ATP)
What does it require?

What stabilizes unwound template strands of DNA? SSB(Single-stranded DNA-binding protein)

What synthesizes RNA primers? Primase

Responsible for synthesis of Leading strand of DNA Pro: DNA polymerase IIIEu: DNA polymerase
in the prokaryotic cell? Eukaryotic cell? Delta

Responsible for synthesis of Lagging strand of DNA Pro: DNA polymerase IIIEu: DNA polymerase
in the prokaryotic and eukaryotic cell? Alpha

What is responsible for the REMOVAL of RNA

primers in prokaryotic cells? In what Pro: DNA poly I 5' -> 3' exonuclease activity
direction/activity?

What is responsible for replacement of RNA primer

DNA poly I
w/ DNA?

Joins Okazaki fragments DNA ligase

Removes positive supercoils ahead of advancing

DNA topoisomerase II
replication forks?

Synthesis of telomers in prokaryotic and eukaryotic

Pro: not required (circular)Eu: Telomerase
cells?

What requires an RNA template to direct the RNA-dependent DNA polymerase(Reverse

synthesis of new DNA? Transcriptase)

DNA repair have two main enzymes that do all the

DNA polymeraseDNA ligase
REPAIR work...what are they?

What excises thymine dimers? Excision endonuclease

What phase of cell cycle does a mismatch base

Occurs: SFixed: G2
problem occur?What phase is it fixed?

What is used to proofread human DNA? 3' -> 5' Exonuclease activity of DNA poly Delta

What do each of the (3) eukaryotic RNA RNA poly I: rRNARNA poly II: mRNA,
polymerases make? hnRNARNA poly III: tRNA, 5S rRNA

What DNA strand should you assume the boards Coding strand(strand you will build a template
mean if it is not labeled? strand from)
During RNA synthesis, the DNA template sequence
TAGC would be transcribed to produce which of the GCUA(always write in 5'->3' direction)
following sequences?

What initiates the promoter in the prokaryotic cell? intiate: Sigmaterminate: Rho + stem & loop (or
What may be required to terminate transcription? UUUUU + stem & loop)

What is the initiation codon on the CODING strand of

ATG(corresponding to AUG RNA)
a transcription unit?

What does the promoter consist of in a prokaryotic

(-35) sequence & (-10) TATAATstarting site: +1
cell?What is the "number" of the starting site?

What does the promoter consist of in a eukaryotic (-70) CAAT + (-25 TATA box) Transcription
cell? (2)What binds the promoter? Factors

What is the portion just before the initiation codon of Shine-Dalgarno sequence16S RNA of
a prokaryotic cell called? What recognizes this? prokaryotic ribosome

What is the term referred to as the creation of a monocistronicEukaryotic (polycistronic is

single protein?What type of cell does this? prokaryotic)

1. 5' Cap (7-MeG)2. 3' poly-A tail3. removing

3 posttranscriptional processing steps for eukaryotics
interons w/ splicesome

where does transcription and translation occur in the

transcription - nucleustranslation - cytoplasm
eukaryotic cell?

Transition - purine for purineTransversion -

define:TransitionTransversion
purine for pyrmidine

Mutation type in DNA that creates a new codon Missense

Mutation type in DNA that creates a stop codon Nonsense

UGA (U Go Away)UAA (U Are Away)UAG (U Are

3 stop codons
Gone)

What type of genetic problem is caused by a deletion

Frameshift mutation
or addition of a single base?

blood problem that is a result of a large segment

alpha-thalassemia
deletion

blood problem that is the result of a splicing of the

beta-thalassemia
donor or acceptor sites (beginning of interons/exons)
What is responsible for accuracy of the amino acid
selection along with tRNA?what is needed to activate Aminoacyl-tRNA2 high-energy ATP bonds
this?

CGA (remember to read anti-codon backwards:

What does the UCG anti-codon code for?
5'->3')

What is the bond between two amino acids called?

peptide bond occurs in the ribosome
Where does this form?

What is the anti-codon for the start codon? CAU

What site in the rRNA does the tRNA bring the AA

to? What amount of energy is needed to translate a A-site (acceptor) 4 GTP
protein?

Primary - Amino Acids Secondary - folded AA

into a-helix or b-sheet Tertiary - 3-D the
Describe the 4 levels of protein shape
secondary structures Quarternary - multiple
subunits (ex - Hb: 2a2b)

N-terminus (NH2) of newly translated protein is

Why is there "rough" ER? hydrophobic, so the rRNA will move to and attach
to the ER to complete translation within the ER

What does the golgi do to the new protein? adds sugars to the N-terminus

What AA does the golgi add N-oligosaccharides to?

N: Asparagine O: Serine and Threonine
O-oligosaccharides? (2)*

What does the golgi do if it wants to send the new Adds Mannose-6-Phosphate via
protein to the lysosomes? phosphotransferase

Dx: protein creation problem that accompanies the

signs of coarse facial features, gingival hyperplasia,
Dx: I-cell disease Missing: Phosphotransferase
joint immobility, growth/psychomotor retardation,
(can't send proteins to lysosomes)
cardioresp failure in first decade. What is missing in
protein creation?

2 cells rich in RER Goblet cells of the GI Ab-secreting Plasma cells

What cell organelle is responsible for steroid Smooth ER also responsible for: detoxification of
synthesis? What else is it responsible for? drugs and poisons

Covalent modification to proteins by adding 2

negative charges to allow calcium to bind. What Gamma-carboxylation Clotting factors 2, 7, 9, 10
important function uses this method? What drug (Warfarin prevents gamma-carboxy)
prevents this?
Most prevalent AA in collagen? Two other common
Glycine Proline & Lysine
AA in collagen?

Where does hydroxylation of preprocollagen occur?

Proline & Lysine are hydroxylated in the ER
What is hydroxylated? What cofactor is needed for it
Vitamin C is required
to occur?

What occurs to collagen after it is hydroxylated? In

Glycosylated in Golgi Triple helix (Procollagen)
what part of the cell? What is formed here? Name?

Following glycosylation of collagen, what is the next Procollagen is secreted from the cell. Then
step and alteration of the structure? What is it now terminal ends are cleaved. Then called:
called? Tropocollagen

What is needed to make the tropocollagen into fibrils

Lysyl Oxidase & Copper
and stabilizes this structure? (2)

SOME: 1. Scurvy 2. Osteogenesis Imperfecta 3.

(4)* Collagen synthesis deficiencies
Menkes Dz 3. Ehlers-Danlos

Dx: Petechiae, ecchymoses, bleeding gums, poor Scurvy Deficiency: hydroxylation of collagen
wound healing, poor bone development Deficiency? deficiency secondary to lack of Vit-C

Dx: Skeletal abnormalities, multiple fractures, blue

Osteogenesis Imperfecta
sclera

Dx: Hyperextensible, fragile skin, hypermobile joints,

Ehlers-Danlos Deficiency: Lysine hydroxylase
vericose veins, arterial and intestinal ruptures
collagen deficiency secondary to lack of copper
Deficiency?

To compare collagen counts of several tissues, what hydroxyproline or hydroxylysine (not Glycine--b/c
could be measured? it's prevalent in other tissues)

Dx: 6 month infant has fractured rib; subdural

hematoma; thin, colorless, tangled hair; low serum Menkes disease Lysyl Oxidase in collagen
copper; developmental delay. What enzyme is metabolism, which requires copper
deficient?

What do pseudomonas and diphtheria toxins inhibit

eEF-2: translocation factor
in eukaryotic translation?

What sequence is found at the 3' end of the tRNA? CCA then the Amino acid

What intermediate is formed by the splicing of the

Lariat-shaped intermediate snRNA ("Snurp")
interons out of the mRNA transcripts? What
facilitates
facilitates the splicing?

With the lac opeon, what is on/off if only glucose is Glucose: Repressor-ON; CAP-OFF Lactose:
 Repressor-OFF; CAP-ON (Z, Y, A, made) Both:
present? Only Lactose? Both? When is Z, Y, A
Repressor-OFF; CAP-OFF (glucose causes CAP
made?
off and Lactose causes Repressor off)

histone acetylases - open hisones anything that

What favors gene expresson--histone acetylases or
condenses or bulks chromatin does not favor
deacetylases? Why?
gene expression

may be upstream, downstream or within interon

Where are enhancers located?
of gene they control (due to looping)

When you see "zinc fingers", "leucine zippers", or

Enhancers (steroid receptors are fingers, while
"helix-loop-helix", what are they talking about? What
cAMP response elements are zippers)
are the fingers?

If you have multiple abnormalities with a single gene

HOX or PAX gene
point mutation, where is the mutatuion?

Dx: childhood obesity and hyperphagia,

hypogonadotrophic hypogonadism, small hands and Prader-Willi syndrome Genetic Imprinting
feet, mental retardation, hypotonia Type of genetic (father's gene only)
problem?

Dx: mental retardation, continuous laughing Type of Angelman syndrome "Happy Puppet syndrome"
genetic problem? Genetic Imprinting (mother's gene only)

What does bacteria do to protect its DNA? How does

it Methylates its DNA Restriction endonucleases
it destroy foreign DNA (bacteriophage)?

What do restriction endonucleases recognize in the

palindromes
sequence?

Library made from nuclear DNA and is good for

seeing all sequences in the cell. Which library is Genomic Libraries cDNA Libraries
good for seeing proteins (exons) without introns?

Bone SCAB: I: bone, Skin II: Cartilage III:

Example of a key tissue for collagen types 1-4
Arteries IV: Basement membrane (4 to the floor)

What is a key feature to a Dominant genetic problem Dominant - every generation is affected (not in
in pedigree (vs. recessive)? recessive)

What is a key feature to Autosomal genetic problem Autosomal - Male-to-male inheritance (x-linked
in pedigree (vs. X-linked)? has no male-to-male)

Dx: Lateral displacement of the innercorner of the

Klein-Waardenburg Syndrome HOX gene
eye; Pigment abnormalities; congenital deafness;
abnormality
limb abnormalities What gene is the problem?
If cystic fibrosis patient were to be treated with gene
therapy, which type of cells should be targeted by Epithelial cells
the host cells?

FH-MAN Familial Hypercholesterolemia;

name 5 Autosomal Dominant diseases Huntingtons; Marfans; Acute Intermittent
Porphyria; NF-1

What is usually the common problem in the

Structural protein damage
Autosomal Dominant diseases?

SCriPT Sickle cell; Cystic Fibrosis; PKU; Tay-

name 4 common Autosomal Recessive diseases
Sachs

What type of genetic diseases affect energy Mitochondrial Diseases: Leber's optic
production? (Name 3) neuropathy; MELAS; MML

Duchennes muscular dystrophy; Lesh-Nylan;

name 4 X-linked recessive common diseases
G6PD; Hemophilia A & B

Paternal relationships b/t man and infant can best be

determined by DNA fingerprinting. What about the Tandem repeats
DNA is analyzed?

2 amino acids that are the precursors for

Phenylalanine Tyrosine
catecholamines

What NT does tryptophan form? What vitamin? Serotonin Niacin

3 branched-chained amino acids found in Maple

I Love Vermont: Isoleucine; Leucine; Valine
Syrup Urine disease?

name the (6)* nonpolar, non-aromatic hydrophobic VIP GAL: Valine; Isoleucine; Proline Glycine;
amino acids Alanine; Leucine

Only amino acid with a phenol group? Tyrosine

name the 3 aromatic amino acids Phenylalanine Tyrosine Tryptophan

the amino acid that acts as a methyl donor methionine (SAM)

name 3 amino acid that are basic What is the pK of

HLA: Histidine (6.5) Lysine (10) Arginine (13)
the R groups?

name the 2 amino acids that are acidic What is the

Glutamate (4) Aspartate (4)
pK of the R groups?
What are the 2 pKs that every amino acid has? pk (COO-) = 2 pk (NH2) = 9

What is the net charge on the amino acid if the pH is

positive
less then the pI?

average of the pKs: (2+9)/2 = 5.5 for normal AA

What is the pI? (equation)
[average the 2 closest numbers for charged AA]

Main extracellular buffer bicarbonate

PVT TIM HALL: Phe-Val-Thr Trp-Ile-Met His-Arg-

10 essential amino acids
Leu-Lys

What 2 essential amino acids are required during

Histidine Arginine
periods of growth?

What is the sign of delta G in a spontaneous

negative
reaction?

Competitive: Km= Increase; Vmax= no change

Affect on Km & Vmax: 1) Competitive Inhibitor 2)
Non-competitive: Km= no change; Vmax=
Non-competative Inh
Decrease

what does the x and y axis measure on Lineweaver-

x-axis: -(1/Km) y-axis: (1/Vmax)
burke plots?

How does affinity relate to Km? low Km = high Affinity

amino acid precursor to GABA Glutamic Acid

amino acid precursor to Heme Glycine

the amino acid that is the precursor for: Creatine

Arginine
Urea Nitric Oxide

adds a phosphate to a substance Kinase

2 serine kinases cAMP cGMP

which receptor type has no g-protein and results in

cGMP Protein kinase G
smooth muscle relaxation? Second messenger?

What phosphorylates in the insulin/glucagon world? Glucagon - phosphorylates (needs ATP) Insulin -
Which needs ATP? de-phosphorylates

removes a phosphate from a substance Phosphatase

What bug affects ADP-ribosylation at Gs receptors? stimulates Gs- Cholera (stimulates the stimulator)
What bug affects it at Gi? What do they both cause inhibits Gi- Pertussis (inhibits the inhibitor) Both
in the cell? cause: Increase in cAMP

What two Vitamins can be used in dehydrogenase

Riboflavin (B2) Niacin (B3)
reactions?

Vitamin that makes CoA? Pantothenic Acid (B5)

What (4)* things does the liver produce in a well-fed G-TAB: GLYCOGEN Triglyerides ATP Bile (from
state? cholesterol)

What is the first step in a well-fed state for the

GLYCOLYSIS
following tissues: liver, RBC, brain, muscle, fat?

2 actions of RBC in a well-fed and fasting state? 1) glycolysis (for ATP) 2) Lactate production

What tissues use insulin receptors: GLUT 1 and 3? RBC Brain

What tissues use receptor: GLUT 2? Liver

What tissues use receptor: GLUT 4? Muscle Adipose

Glucose & Acetyl-CoA Glucose - added together

Once there is enough energy in liver during well-fed
to be stored as glycogen Acetyl-CoA - added
state, what 2 substances build-up? What is done
together to become fatty acids (then transported
with them?
to adipose via VLDL)

takes in glucose and fatty acids to make ATP and

What does adipose do during well-fed states?
fat

Goes to Liver And Grows: Glucose - food (blood)

What (4)* substances enter the liver during a well-fed
Lactate - RBC Amino Acids - food (blood)
state? Where is each from?
Glycerol - Chylomicrons (food)

What does the liver give to tissues during fasting

Glucose - RBC & Brain Ketone bodies - muscle
states? To what tissues?

Ketone bodies - liver (once enough ATP is made

What does muscle get during the fasting state? (2)
and Aceytl-CoA builds-up) Fatty acids - Adipose
From where?
(carried on albumin)

What does the muscle provide to the liver during Amino Acids 1. to make Pyruvate (then glucose)
fasting states? For what? (2) 2. for Urea cycle

2 sources (& preliminary substances) to make

RBC - lactate muscle - Alanine
pyruvate b/t meals for the liver to make glucose
What 2 ways can the GLUT-4 receptor move to the
1) Increased Insulin 2) Exercise
surface of muscle?

What are the 2 anaerobic steps of substrate level 1,3BPG --> 3PG (via Phosphoglycerate kinase)
phosphorylation in glycolysis? PEP --> Pyruvate (via Pyruvate kinase)

What are two essential items needed to make ATP

1) Oxygen 2) Mitochondria (for ETC)
from NADH?

First and third step: Glucose --> G6P (via

What 2 steps of glycolysis use ATP? Hexokinase/Glucokinase) F6P --> F-1,6-BP (via
PFK-1)

What is the rate-limiting step of glycolysis? Net ATP? PFK-1 2 ATP (net)

Pyruvate --> Lactate (Enzyme: Lactate DH)

How does the RBC replenish NADH? With what
changes NAD+ --> NADH for glycolysis (lactate
essential enzyme? If enzyme was not there, what
goes to liver) If Lactate DH not there, RBC would
would occur?
die

What enzyme of glycolysis is only in the liver and is

Glucokinase Low affinity = High Km = high Vmax
induced by insulin? Level of affinity of this enzyme?

Insulin (dephos) stimulates PFK-2 for: F6P --> F-

How is PFK-1 controlled? Which form is active
2,6-BP to make PFK-1 Glucagon
(dephosphorylated or phosphorylated)?
(phosphorylates) inhibits PFK-2

What (3)* metabolic events occur in the Fatty acid oxidation Acetyl-CoA production TCA
mitochondria? cycle

Glucose Found Here Protects Steroids:

What (5)* metabolic events occur in the cytoplasm? Glycolysis Fatty acid synthesis HMP shunt
Protein synthesis (RER) Steroid synthesis

What (3)* metabolic events occur in both the

Heme synthesis Urea cycle Gluconeogenesis
mitochondria and the cytoplasm?

What 2 shuttles take NADH from the cytoplasm to

the mitochondria? How many ATP does each yield? Malate/OAA Shuttle - 3ATP G3P Shuttle - 2ATP
Which yields a FADH2 instead of the NADH in the (creates FADH2)
mito?

If a patient has cataracts early in life, what is the

underlying metabolic problem? What toxic substance Galactose metabolism Toxic: Galacititol
accumulation causes this?

Dx: young patient with hepatosplenomegaly,

Galactosemia: Galactose-1-P uridyltransferase =
cataracts, mental retardation. Which enzyme
at birth; Galactokinase = early childhood
presents sx at birth? Which in early childhood?
Dx: lethargy, vomiting, liver damage,
hyperbilirubinemia, hypoglycemia, jaundice, renal Fructose Intolerance Enz: Aldolase B
proximal tubule problems. What enzyme is deficient?

What are the (5)* cofactors used for Pyruvate TLC For Nipples: Thiamine (B1) Lipoic Acid
Dehydrogenase? Coenzyme A (B5) FADH2 (B2) NADH (B3)

What does Pyruvate DH change pyruvate into? Acetyl CoA

Overall net reaction of the TCA cycle? What makes Acetyl CoA --> 2 CO2 3NADH + FADH2 + GTP =
the ATP in this reaction? 12 ATP (2x everything per one glucose)

Which enzyme in the TCA cycle is in the inner

mitochondrial membrane versus the matrix of the Succinate Dehydrogenase
mitochondria?

What enzyme has the same 5 cofactors as Pyruvate

Alpha-Ketogluterate DH
DH?

Can I Keep Selling Sex For Money Officer?

Citrate-->Isocitrate--> (alpha)Ketogluterate-->
In order, what are the 8 steps in the TCA cycle?
Succinyl CoA-->Succinate--> Fumarate--
>Malate-->OAA

Lactic Acidosis (from backup of substrates) Seen

What does a Pyruvate DH deficiency lead to? What
in Alcoholics (thiamine deficiency) Tx: Ketogenic
can it be due to? How is it treated?
acids (Lysine & Leucine)

What part of the TCA cycle is also part of the ETC? Succinate Dehydrogenase (Complex II) Provides:
What does it provide to the ETC? FADH2

What part of the TCA cycle deals with Fatty Acid

Citrate
synthesis?

What part of the TCA cycle deals with Heme

Succinyl CoA
synthesis?

What part of the TCA cycle deals with the Urea

Fumarate
cycle?

What parts of the TCA cycle deals with

OAA & Malate
Gluconeogenesis?

What is the rate limiting step of the TCA cycle? What

Isocitrate DH depends on NADH levels
does it depend on?

What enzymes in the TCA produce the energy? (5)* KIM SUCkS: Ketoglutarate DH - NADH
Isoglutarate DH - NADH Malate DH - NADH
 Succinyl CoA - GTP Succinate DH - FADH2

What does Complex I use in ETC? What drug class

NADH Barbiturates
inhibits Complex I?

What 3 reactions add FADH2 to Coenzyme Q? TCA (Succinate DH) [Complex II] Glycerol-P
Which is considered Complex II? shuttle Beta-oxidation (Fatty Acyl CoA DH)

Which Complex in the ETC uses Oxygen? Another

name for thtis complex? What else is needed for this Complex IV (Cyto a/a3) copper Cyanide & CO
Complex? What 2 compounds inhibit this Complex?

Where is the ATP made in the ETC? What inhibits

ATP Synthase Inhibitor: Oligomycin
this?

Aspirin Brings H+ across the proton gradient,

What is a common Uncoupler? How does it work? which inhibits the creation of ATP and increases
Oxygen consumption

UDP-Glucose --> Glycogen (via Glycogen

What is the rate limiting step in Glycogen creation?
Synthase)

In which type of muscle fiber is glucose converted to to Lactate: White (fast) fibers completely
Lactate? In which type is it completely oxidized? oxidized: Red (slow) fibers

Glycogen Phosphorylase Stimulated by: Liver:

What converts Glycogen back into Glucose 1-P?
Glucagon and Epinephrine Muscle: AMP and
What stimulates it in the liver and muscle? (2 each)
Epinepherine

What are the (4)* main Glycogen storage diseases? Very Poor Carbohydrate Metabolism: Von Gierke
(in order I, II, III, V) Pompe Cori McArdles

Dx: Glycogen storage disease that causes severe

Von Gierke's (Glucose-6-Phosphatase) "LU Von
hypoglycemia, hepatomegaly, hyperlipidemia &
Geirke is 6" [LU = hyper Lipidemmia and Uriceia]
hyperuricemia What is the deficient enzyme?

Dx: Glycogen-like material in inclusion bodies,

cardiomegaly, muscle weakness and death by age 2 Pompe's (Lysosomal-alpha-1,4-glucosidase)
What is the deficient enzyme?

Dx: Glycogen storage disease that is similar, but Cori's (Alpha-1,6-Glucosidase) [Cori is A-16 yo-
milder then Type I. What is the deficient enzyme? Girl]

Dx: Increased glycogen in muscle, painful cramps,

myoglobinuria w/ exercise What is the deficient McArdle's (Muscle Glycogen Phosphorylase)
enzyme?

What are the 3 irreversible steps in Glycolysis? Glucokinase PFK-1 Pyruvate Kinase
What are the (3)* ways Gluconeogenesis Pathway Produces Fresh Glucose: Pyruvate
circumvents the irreversible glycolysis steps (in Carboxylase/PEPCK F-1,6-Bisphosphatase
order)? Glucose-6-phosphatase

What are the (3)* cofators for Carboxylase

ABC enzymes: ATP Biotin CO2
reactions?

What is the rate-limiting enzyme in

PEPCK
Gluconeogenesis?

What enzyme converts Pyruvate to OAA? How does

Pyruvate Carboxylase Malate/OAA shuttle
this OAA get to the cytoplasm to create Glucose?

What is an easy test to see if patient has a glycogen inject patient with glycerol; if patient does not
storage disease? increase blood glucose, there is a G6P deficiency

Cycle that Transfers excess reducing agents from

RBC and muscle to the liver, allowing the muscle to
Cori Cycle RBC and Muscle give: Lactate
function anaerobically What do the muscle and RBC
distribute to the cycle?

What enzyme changes lactate to and from pyruvate? Lactate DH

What is the function of the HMP shunt? What are the to regenerate NADPH and Ribose 5-P Enzymes:
2 important enzymes in this reaction? G6PDH Transketolase (TPP)

Liver: Biosynthesis (FA, Cholesterol, DNA) RBC:

What are the 3 main roles of NADPH? Protect against ROS Neutrophil: NADPH oxidase
(kill bugs)

What are the 2 essential Fatty acids? What is their

Linoleic = C18:2(9,12) Linolenic = C18:3(9,12,15)
nomenclature?

What cells have telemorase activity? (2) Embryonic (germ) cells Cancer cells

What strand is identical to the mRNA (except T for

Identical: Coding Strand Complementary:
U)? What strand is Complementary and antiparallel
Template Strand
to the mRNA (except T for U)?

What drug inhibits all transcription in prokaryotes and

Actinomycin D
eukaryotes?

What is 3 bases and antiparallel to mRNA w/ U

Anti-codons attached to tRNA
instead of T? where is this attached?

(2) steps of Collagen formation that occurs in the 1. Removal of the "Pre" from Prepro-alpha to
RER? What Dz can occur from a deficiency in these make Pro-alpha 2. Hydroxylation of the Pro-alpha
steps? with Vitamin C Dz: Scurvy (Vit-C deficiency)
(2) steps of Collagen formation that occurs in the
1. Glycosylation 2. Triple Helix formation to make
Golgi? What Dz can occur from a deficiency in these
Procollagen Dz: Osteogenesis Imperfecta
steps?

1. cleavage of peptide ends to make

Tropocollagen 2. Tropocollagen into fibrils w/
(3) steps of Collagen formation that occurs in the
Lysyl Oxidase and copper 3. Fibrils to Collagen
ECM? What (2) Dz can occur from a deficiency in
Fibers Dz: Ehlers-Danlos (Lysine hydroxylase
these steps?
deficiency) Menke's Dz (Copper digestion
insufficiency)

Drug that is against Pertussis by inhibiting the

Erythromycin
translocation of peptidyl-tRNA on 50s ribosome

What effect does Exotoxin A of Pseudomonas have

inhibits translocation factor: eEF-2
on the human cells?

Plasmid: circular DNA in bacteria Vector: carrier

Define: 1. Plasmid 2. Vector 3. Phage for human DNA to insert into a plasmid Phage:
Larger vector

What type of Genetics: NO male to male; no male to

Mitochondrial inheritance
female; if mother has it, all kids have it

DNA (negative charge) moves to the positive

With Southern blot, how does the DNA align? (2)
Larger fragments at top and smaller at bottom

What does it measure? 1.Southern blot 2. Northern

blot 3. Western blot Which is good to answer Southern = DNA (restriction fragments) Northern
questions about gene expression? About the amount = RNA (gene expression) Western = Proteins
of antigens or antibodies? To determine specific (Antibodies/Antigens)
restriction fragments?

Gs = Beta receptors (stimulates Adenyl cyclase

to inc cAMP) Gi = Alpha-2 receptors (Inhibits
Type of receptors: 1. Gs 2. Gi 3. Gq What does each
Adenyl cyclase to dec cAMP) Gq = Alpha-1
do?
receptors (Stimulates Phospholipase C in PIP2
receptor system)

Which receptor is associated w/ Protein Kinase C? IP3 (Gq)

Which receptor is assoc w/ Protein Kinase A? cAMP (Gs and Gi)

What is the G-receptor for Vasopressin? Glucagon? Gq - IP3 system Gs/Gi - cAMP system

MCC of deficiency in: Thiamine Alcoholism

MCC of deficiency in: Folic Acid (2) Alcoholism Pregnancy

MCC of deficiency in: Cyanocobalamin (B-12) Pernicious Anemia

MCC of deficiency in: Pyridoxine Isoniazid therapy

What NT is always released w/i the eyes (in the

dark) causing constant depolarization? What Glutamic Acid cGMP-PDE Na+ gated channels
channels respond to light causing the cell to close
hyperpolarize?

What vitamin is used to introduce Calcium to binding

Vitamin K Gamma-carboxylation of Glutamate
sites of several calcium-dependent proteins? With
Warfarin inhibits it
which mechanism? What drug inhibits this?

Bleeding time difference and PT difference b/t a Vit C: Increased bleeding time normal PT Vit K:
deficiency in: Vit-C and Vit-K normal bleeding time Increased PT

If tissue is hypoxic, what enzymes will be increased

Any Glycolysis enzyme (not Lactate DH)
in the blood?

MC genetic deficiency that causes hemolytic anemia Pyruvate Kinase Deficiency

What amino acid is assoc w/ the Malate-OAA

Aspartate
shuttle?

What enzyme in glycolysis is activated after a big

PFK-2 Activated by Insulin
meal? What activates it?

What thiamine-dependent enzyme is essential for

Pyruvate DH
glucose oxidation in the brain?

After an overnight fast, what enxymes of what Glycolysis enzymes (b/c liver is producing
metabolic process would be insignificant? glucose, not storing it)

What enzymes in the TCA cycle produce items but Succinates: Succinyl CoA Synthase = GTP
not NADH? (2) Succinate DH = FADH2

Which is the only enzyme in the TCA that deals w/

Succinyl CoA Synthase
substrate level phosphorylation?

Which direction do H+ flow in the ETC? In which

Mitochondrial matrix -> cytoplasm: Complexes I,
complexes? In which complex is the flow the
III and IV Opposite direction: ATP synthase O2 ->
opposite direction? Which side does O2 -> H20? On
H20: mitochondrial matrix on Complex IV
which complex?

What does Nitroprusside break down into? What

Cyanide Complex IV
complex in ETC does it affect?

What glycogen storage Dz has debranching Cori's Dz

enzymes?

If FA beta-oxidation is occurring in the liver, what Carboxylates to OAA for entry into
does pyruvate do? Gluconeogenesis

What do G6PDH deficient patients have resistence

Malaria
to?

What do the bilirubin levels in the blood and urine

Direct = normal Indirect = increased Urinary =
look like w/ hemolytic jaundice (from G6PDH
absent
deficiency)?

What type of bonds are there in alpha-helix and

Peptide bonds that participate in H+ bonding
beta-sheet proteins?

What property of water most contributes to its ability

Hydrogen bonds
to dissolve compounds?

What tissue has the highest concentration of

Keratin
Cystine?

What gives strength to the IgG structure? What can

Disulfide bonds Urea (and reducing agents)
break these bonds?

What is constant (the same) in each class of

Constant regions of the heavy chains
immunoglobulins?

How many antigen binding sites does each

2
immunoglobulin have per molecule?

Which FA is cardio-protective? Linolenic (omega-3)

When is a FA considered "saturated"? when it has NO double bonds

Name and give the nomenclature for the FA that is

the precursor to Prostaglandins, thromboxanes and Arachidonic Acid: C20:4(5,8,11,14)
Leukotrienes

1. Double bonds occur every 3 carbons 2. "L's"

What is a good way to remember the placement of
start w/ 9 3. Arachidonic C20:4 - take 20/4 = 5.
the double bonds for unsaturated FA? (3)
This starts at 5

Accumulation of what in the liver triggers it to make

Acetyl CoA Need Energy (ATP)
fat? What is needed?

In the mitochondria, there are (2) pathways to make Fed (insulin): Pyruvate -> PDH -> Acetyl CoA ->
fat depending on the fed or fasting state. What is the Citrate Fasting (glucagon): Pyruvate -> P
path for each to get to Citrate? Carboxylase -> OAA -> Citrate
What from the mitochondria leaves the TCA cycle to
enter the cytoplasm for fat synthesis? What does it Citrate Aceytl CoA
then turn into?

What is the essential enzyme to transform Acetyl

CoA to Malonyl CoA? What else is needed? How Acetyl CoA Carboxylase ATP/Biotin/CO2 8
many Acetyl CoA are needed to make one Acetyl CoA are needed for 1 Palmitate (7 cycles)
Palmitate?

What enzyme and substance is needed to convert

FA Synthase (2) NADPH
Malonyl CoA to Palmitate (16:0)? (2)

How many molecules of NADPH are needed for one

14 NADPH (2 x 7 cycles)
Palmitate?

To transport FA from liver, what do you need to do to

Convert it to a TG Need: Glycerol-3-P
the molecule? What is needed for this?

(2) enzymes that are induced/activated by insulin in

PDH Acetyl CoA Carboxylase
FA synthesis

What is needed for every Carboxylase enzyme? Biotin

1. Glucose enters liver: Glucose -> DHAP +

Glycerol-3-P DH -> Glycerol-3-P + 3 FA CoA ->
(2) ways to make TG in the liver
TG 2. Glycerol enters liver: Glycerol + Glycerol
Kinase -> Glycerol-3-P + 3 FA CoA -> TG

What in Adipose allows for the removal of FA from

TG carried by chylomicrons and VLDL? With what Lipoprotein Lipase Key: ApoC-II
"key"?

ApoB-100 used as a key to LDL receptors in cell

What is the only Apoprotein left on LDL? What is its
membranes to endocytose the LDL for
use?
cholesterol usage

ApoE - Key to liver ApoA-1 - Key to stimulate

What are the (2) Apoproteins on HDL? Use of each?
LCAT

What does the LCAT receptor of peripheral tissues Adds a FA from the periphery to HDL for it to
do? take back to the liver

What are the main ingredients of the plaque on the "Fatty Streak" formation: Cholesterol Foam cells
vessel walls? (3) What is this called? (sick macros) Smooth muscle (migrated)

What membrane transport shuttle is used in Beta-

Carnitine shuttle
oxidation of FA?
(2) main enzymes in B-oxidation of FA? Which is the Carnitine Acyl Transferase (rate-limiting across
rate limiting step? shuttle) Fatty Acyl CoA DH

What is the end product of b-oxidation? Acetyl CoA

When is the only time FA can go back into glucose? When it is a FA w/ an odd number Makes:
What does it make in this case? Succinyl CoA

What (2) enzymes are used in the breakdown of Propionyl CoA Carboxlase (biotin) Methylmalonyl
odd-chained FA? What is needed with each step? CoA Mutase (Vit B-12)

What is the difference b/t a TG and a glycerophospholipid has Inositol or choline

glycerophospholipid? attached

What are the (2) main ingredients in Sphingolipids? Serine (not glycerol) + FA Precursor:
Precursor to all sphingolipids? Sphingosine

Sphingolipids extra ingredients for: 1. Sphingosine 2. 1. Sphingo = CHOLINE 2. Cerebro = SUGAR 3.

Cerebrosides 3. Gangliosides Ganglio = SIALIC ACID and complex sugars

Deficient Lysosomal enzyme: Gaucher's Dz Glucocerebrosidase

Deficient Lysosomal enzyme: Niemann-Pick Sphingomyelinase

What is the actual enzyme that causes the increased

amount of Galactose to be converted into Galactitol Aldose Reductase
to cause Cataracts?

What are the enzymes for the (2) sources of Both break down Glutamate: Glutaminase in the
ammonia that enter the Urea cycle in the liver? GI Glutamate DH in liver

What vitamin is essential for aminotransferase

Vitamin B-6
reactions?

If blood glutamate is increased in the blood, what is

Deficiency in Urea cycle
the possible problem?

Careless Crappers AlSo ARe Frivolous About

Urination Outside: Carbamoyl Phosphate ->
What are the steps in the Urea cycle? (8)*
Citruline + Aspartate -> Argininosuccinate -
Fumarate -> Arginine - UREA -> Ornithine

Which step in the Urea cycle is inside the

Carbamoyl Phosphate
mitochondria?

What is the enzyme deficiency with the following Sx? Ornithine Transcarbamoylase (OTC)
blood glutamine increased, BUN decreased, cerebral
edema, lethargy, convulsions, Uracil and Orotic acid
increase in blood and urine

What reactions and AA enter at the Succinyl CoA VOMIT SUCks: Valine; Odd-chain FA;
part of the TCA? (5)* Methionine; Isoleucine; Threonine

Methylmalonic CoA Mutase Homocysteine

(2) enzymes in the body that need Vit B-12
Methyl Transferase

What are the (2) Ketogenic AA? Where do they enter

Leucine Lysine enter at Acetyl CoA
the TCA cycle?

What (2) AA enter the TCA cycle at Fumarate? Phenylalanine Tyrosine

If you see zinc in heme, what enzyme is inhibited? Ferrochelatase

GAP UP Here: Glycine + Succinyl CoA ->

Steps in Heme Synthesis (6)* Aminolevulinic Acid (ALA) -> Porphobilinogen ->
Uroporphyrinogen-III -> Protoporphyrin -> Heme

What enzyme is deficient in Acute Intermittent

Uroporphyrinogen Synthase
Porphyria?

Dx: Painful abdomen; Pink urine (Port-wine urine);

4 P = Porphyria
Polyneuropathy; Psychological disturbances

Porphyria that also causes blistering of the skin from

Porphyria Cutanea Tarda
photosensitivity

Dx: Patient is given a barbituate and begins

projectile vomiting, confusion, abdominal pain, Acute Intermittent Porphyria
paranoia.

HCG: Hemolysis; Crigler-Najjar syndrome;

(3)* causes of Increased Indirect Bilirubin
Gilbert's syndrome

(2) conditions that increase Direct Bilirubin Hepatic damage Bile duct obstruction

What are the (2) required AA for Pyrimidine

Glutamatine Aspartic Acid
synthesis?

Thymidine (dTMP) Drugs that block DHF

Blocking THF creation would lead to not being able reductase: METHotrexate (cancer);
to make what? What (3) drugs do this? What is the TriMETHoprim (PCP); PyriMETHamine
side effect of all of these drugs? (toxoplasmosis) Side effect: Bone marrow
Suppression

What are the (3)* important enzymes in the Right Here The Funky Drugs Mingle:
conversion of UMP to dTMP (in order)? Which Anti- Ribonucleotide Reductase (Hydroxyurea)
 Thymidylate synthase (5-FU) DHF reductase
cancer med targets each?
(Methotrexate)

What is Orotic Acid involved in? Pyrimidine synthesis

What is the additional AA that is used to make

Glycine
purines?

What enzyme in Purine synthesis is the rate-limiting PRPP Amidotransferase Drugs ("Purin"):
step? What (2) drugs inhibit this step? AlloPURINol (Gout); 6-MercaptoPURINe (cancer)

What intermediate in purine synthesis is different

from guanine and adenine by one amino group and Hypoxanthine
is also an intermediate in the breakdown of purines?

Lack of the salvage pathway of purines leads to what

LNS = Lacks Nucleotide Salvage: Lesch-Nyhan
syndrome? What is the missing enzyme? What is an
syndrome HGPRTase Sign: Self-mutilation
unusual sign of this syndrome?

Adenosine Deaminase deficiency causes a lack of

Inosine
what product?

Dx: 48-yo man w/ recessive condition is at high risk

for deep vein thrombosis and has had replacement Homocysteinuria Enzyme: Cystathionine
of ectopic lenses; no evidence of anemia. Enzyme Synthase AA: Methionine
that is deficient? What AA would be in excess?

Dx: Man has dark pigment of cartilage and arthritis, Alkaptouria Enzyme: Homogentisate Oxidase [AL
and dark urine What enzyme is deficient? KAPT a HOMe]

How do you treat Cystinuria? Alkalinize the urine w: Acetazolamide

Precursor to Ketone body formation HMG-CoA

Try HUNTING for MY FRIED X (eggs):

(4)* genetic Dz w/ Trinucleotide repeats Huntington's; Myotonic Dystrophy; Friedreich's
Ataxia; Fragile X

Budd-Chiari Syndrome (posthepatic venous

Abdominal pain, ascites, hepatomegaly
thrombosis)

Achilles tendon xanthoma Familial hypercholesterolemia

Waterhouse-Friderichsen Syndrome
Adrenal hemorrhage, hypotension, DIC
(meningococcemia)

Arachnodactyly, lens dislocation, aortic dissection,

Marfan's syndrome (fibrillin defect)
hyperflexible joints
Athlete with polycythemia Erythropoietin injection

Back pain, fever, night sweats, weight loss Pott's disease (vertebral tuberculosis)

Bilateral hilar adenopathy, uveitis Sarcoidosis (noncaseating granulomas)

Blue sclera Osteogenesis imperfecta (collagen defect)

Bluish line on gingiva Burton's line (lead poisoning)

Paget's disease of bone (increased osteoblastic

Bone pain, bone enlargement, arthritis
and osteoclastic activity)

Bounding pulses, diastolic heart murmur, head

Aortic regurgitation
bobbing

Neurofibromatosis type I (+ pheochromocytoma,

Café-au-lait spots, Lisch nodules (iris hamartoma) optic gliomas) Neurofibromatosis type II (+
bilateral acoustic neuromas)

Café-au-lait spots, polyostotic fibrous dysplasia, McCune-Albright syndrome (mosaic G-protein

precocious puberty signaling mutation)

Calf pseudohypertrophy Muscular dystrophy (MCly Duchenne's)

Tay-Sachs (ganglioside accumulation) or

"Cherry-red spot" on macula Niemann-Pick (sphingomyelin accumulation),
central retinal artery occlusion

Dressler's syndrome (autoimmune-mediated

Chest pain, pericardial effusion/friction rub,
post-MI fibrinous pericarditis, 1-12 weeks after
persistent fever following MI
acute episode)

Gowers' sign (Duchenne muscular dystrophy: XR

Child uses arms to stand up from squat
deleted dystrophin gene)

Child with fever develops red rash on face that "Slapped cheeks" (erythema infectiosum/fifth
spreads to body disease: parvovirus B19)

Huntington's disease (AD CAG repeat

Chorea, dementia, caudate degeneration
expansion)

Chronic exercise intolerance with myalgia, fatigue, McArdle's disease (muscle phosphorylase
painful cramps deficiency)

Cold intolerance Hypothyroidism

 Internuclear ophthalmoplegia (damage to MLF;
Conjugate lateral gaze palsy, horizontal diplopia
bilateral [multiple sclerosis], unilateral [stroke])

PDA (close with indomethacin; open with

Continuous "machinery" heart murmur
misoprostol)

Cutaneous/dermal edema due to connective tissue

Myxedema (hypothyroidism, Graves' disease)
deposition

Kaposi's sarcoma (usually AIDS patients [gay

Dark purple skin/mouth nodules
men]: associated with HHV-8)

Deep, labored breathing/hyperventilation Kussmaul breathing (DKA)

Dermatitis, dementia, diarrhea Pellagra (niacin [vitamin B3] deficiency)

Dilated cardiomyopathy, edema, polyneuropathy Wet beriberi (thiamine [vitamin B1] deficiency)

Pasteurella multocida (cellulitis at inoculation

Dog or cat bite resulting in infection
site)

Sjögren's syndrome (autoimmune destruction of

Dry eyes, dry mouth, arthritis
exocrine glands)

Dysphagia (esophageal webs), glossitis, iron Plummer-Vinson syndrome (may progress to

deficiency anemia esophageal squamous cell carcinoma)

Ehlers-Danlos syndrome (collagen defect,

Elastic skin, hypermobility of joints
usually type III)

Enlarged, hard left supraclavicular node Virchow's node (abdominal metastasis)

Erythroderma, lymphadenopathy, Sézary syndrome (cutaneous T-cell lymphoma)

hepatosplenomegaly, atypical T cells or mycosis fungoides

Facial muscle spasm upon tapping Chvostek's sign (hypocalcemia)

Fat, female, forty, and fertile Acute cholecystitis (bile duct blockage)

Fever, chills, headache, myalgia following antibiotic Jarisch-Herxheimer reaction (rapid lysis of
treatment for syphilis spirochetes results in toxin release)

Fever, cough, conjunctivitis, coryza, diffuse rash Measles (Morbillivirus)

Fever, night sweats, weight loss B symptoms (lymphoma)

Fibrous plaques in soft tissue of penis Peyronie's disease (connective tissue disorder)

Gout, mental retardation, self-mutilating behavior in a

Lesch-Nyhan syndrome (HGPRT deficiency, XR)
boy

Kayser-Fleischer rings (copper accumulation

Green-yellow rings around peripheral cornea
from Wilson's disease)

Peutz-Jeghers syndrome (genetic benign

hamartomatous GI polyps, hyperpigmentation of
polyposis can cause bowel obstruction; increase
mouth/feet/hands
cancer risk)

Hepatosplenomegaly, osteoporosis, neurologic Gaucher's disease (glucocerebrosidase

symptoms deficiency)

Hereditary nephritis, sensorineural hearing loss,

Alport's syndrome (type IV collagen mutation)
cataracts

Hypercoagulability (leading to migrating DVTs and Trousseau's sign (adenocarcinoma of pancreas

vasculitis) or lung)

Hyperphagia, hypersexuality, hyperorality, Klüver-Bucy syndrome (bilateral amygdala

hyperdocility lesion)

Hypertension, hypokalemia, metabolic alkalosis (the

high pH of the blood makes Ca2+ less available to Conn's syndrome (primary hyperaldosteronism)
the tissues and causes symptoms of hypocalcemia)

"Blue bloater" (chronic bronchitis: hyperplasia of

Hypoxemia, polycythemia, hypercapnia
mucous cells)

Nonpainful: chancre (primary syphilis,

Indurated, ulcerated genital lesion Treponema pallidum) Painful, with exudate:
chancroid (Haemophilus ducreyi)

Infant with failure to thrive, hepatosplenomegaly, Niemann-Pick disease (genetic

neurodegeneration sphingomyelinase deficiency)

Infant with hypoglycemia, failure to thrive, and

Cori's disease (debranching enzyme deficiency)
hepatomegaly

Infant with microcephaly, rocker-bottom feet,

Edwards' syndrome (trisomy 18)
clenched hands, and structural heart defect

Jaundice, RUQ pain, fever Charcot's triad 2 (ascending cholangitis)

Keratin pearls on skin biopsy Squamous cell carcinoma

 Erythema chronicum migrans from Ixodes tick
Large rash with bull's-eye appearance
bite (Lyme disease: Borrelia)

Epidural hematoma (middle meningeal artery

Lucid interval after traumatic brain injury
rupture)

Male child, recurrent infections, no mature B cells Bruton's disease (X-linked agammaglobulinemia)

Glanzmann's thrombasthenia (defect in platelet

Mucosal bleeding and prolonged bleeding time
aggregation due to lack of GpIIb/IIIa)

Multiple colon polyps, osteomas/soft tissue tumors,

Gardner's syndrome (subtype of FAP)
impacted/supernumerary teeth

Wegener's (c-ANCA positive) and Goodpasture's

Necrotizing vasculitis (lungs) and necrotizing
syndromes (anti-basement membrane
glomerulonephritis
antibodies)

Erb-Duchenne palsy (superior trunk [C5-C6]

Neonate with arm paralysis following difficult birth
brachial plexus injury: "waiter's tip")

No lactation postpartum, absent menstruation, cold

Sheehan's syndrome (pituitary infarction)
intolerance

Nystagmus, intention tremor, scanning speech,

Multiple sclerosis
bilateral internuclear ophthalmoplegia

Cheyne-Stokes respirations(central apnea in

Oscillating slow/fast breathing
CHF or increased intracranial pressure)

Cold agglutinin disease (autoimmune hemolytic

Painful blue fingers/toes, hemolytic anemia anemia caused by Mycoplasma pneumoniae,
infectious mononucleosis)

Painful, pale, cold fingers/toes Rayneud's syndrome (vasospasm in extremities)

Painful, raised red lesions on palms and soles Osler's nodes (infective endocarditis)

Painless erythematous lesions on palms and soles Janeway lesions (infective endocarditis)

Cancer of the pancreatic duct obstructing bile

Painless jaundice
duct

Henoch-Schönlein purpura (IgA vasculitis

Palpable purpura, joint pain, abdominal pain (child)
affecting skin and kidneys)

Pancreatic, pituitary, parathyroid tumors Wermer's syndrome (MEN I)

 "Pink puffer" (emphysema: centroacinar
Pink complexion, dyspnea, hyperventilation
[smoking], panacinar [α1-antitrypsin deficiency])

Polyuria, acidosis, growth failure, electrollyte Fanconi's syndrome (proximal tubular

imbalances reabsorpiton defect)

Positive anterior "drawer sign" Anterior cruciate ligament (ACL) injury

Ptosis, miosis, anhidrosis Horner's syndrome (sympathetic chain lesion)

Pupil accommodates but doesn't react Argyll Robertson pupil (neurosyphilis)

Rapidly progressive leg weakness that ascends Guillain-Barré syndrome (autoimmune acute
(following GI/upper respiratory infection) inflammatory demyelinating polyneuropathy)

Secondary syphilis, Rocky Mountain spotted

Rash on palms and soles
fever, Coxsackie A virus

Job's syndrome (hyper-IgE syndrome: neutrophil

Recurrent colds, unusual eczema, high serum IgE
chemotaxis abnormality)

Red "currant jelly" sputum in alcoholic or diabetic

Klebsiella pneumoniae
patients

Paget's disease of the breast (represents

Red, itchy, swollen rash of nipple/areola
underlying neoplasm)

Renal cell carcinoma, hemangioblastomas, von Hippel-Lindau disease (dominant tumor

angiomatosis, pheochromocytoma suppressor gene mutation)

Parkinson's disease (nigrostriatal dopamine

Resting tremor, rigidity, akinesia, postural instability
depletion)

Restrictive cardiomyopathy (juvenile form: Pompe's disease (lysosomal glucosidase

cardiomegaly), exercise intolerance deficiency)

Retinal hemorrhages with pale centers Roth spots (bacterial endocarditis)

Crigler-Najjar syndrome (congential

Severe jaundice in neonate
unconjugated hyperbilirubinemia)

Severe RLQ pain with rebound tenderness McBurney's sign (appendicitis)

Short stature, increased incidence of Fanconi's anemia (genetically inherited; often

tumors/leukemia, aplastic anemia progresses to AML)
Single palm crease Simian crease (Down syndrome)

Situs inversus, chronic sinusitis, bronchiectasis, Kartagener's syndrome (dynein defect affecting
infertility cilia)

Addison's disease (primary adrenocortical

Skin hyperpigmentation insufficiency of autoimmune or infectious
etiology)

Becker's muscular dystrophy (X-linked, defective

Slow, progressive weakness in boys
dystrophin; less severe than Duchenne's)

Small, irregular red spots on buccal/lingual mucosa

Koplik spots (measles)
with blue-white centers

Smooth, flat, moist white lesions on genitals Condylomata lata (secondary syphilis)

Splinter hemorrhages in fingernails Bacterial endocarditis

Scarlet fever, Kawasaki disease, toxic shock

"Strawberry tongue"
syndrome

Streak ovaries, congential heart disease, horseshoe Turner syndrome (XO, short stature, webbed
kidney neck, lymphedema)

Sudden swollen/painful big toe joint, tophi Gout/podagra (hyperuricemia)

Swollen gums, mucous bleeding, poor wound Scurvy (vitamin C deficiency: can't hydroxylate
healing, spots on skin proline/lysine for collagen synthesis)

Osteoarthritis (osteophytes on PIP [Bouchard's

Swollen, hard, painful finger joints
nodes], DIP [Heberden's nodes])

Systolic ejection murmur (crescendo-decrescendo) Aortic valve stenosis

Thyroid and parathyroid tumors, pheochromocytoma Sipple's syndrome (MEN 2A)

Toe extension/fanning upon plantar scrape Babinski's sign (UMN lesion)

Unilateral facial drooping involving forehead Bell's palsy (LMN CN VII palsy)

Reiter's syndrome (reactive arthritis associated

Urethritis, conjunctivitis, arthritis in a male
with HLA-B27)

Hemangioma (benign, but associated with

Vascular birthmark (port-wine stain)
Sturge-Weber syndrome)
Vasculitis from exposure to endotoxin cause Shwartzman reaction (following second exposure
glomerular thrombosis to endotoxin)

Mallory-Weiss syndrome (alcoholic and bulimic

Vomiting blood following esophagogastric lacerations
patients)

"Waxy" casts with very low urine flow Chronic end-stage renal disease

WBC casts in urine Acute pyelonephritis

Weight loss, diarrhea, arthritis, fever, adenopathy Whipple's disease (Tropheryma whippelii)

"Worst headache of my life" Subarachnoid hemorrhage

Anticentromere antibodies Scleroderma (CREST)

Andidesmoglein (epithelial) antibodies Phemphigus vulgaris (blistering)

Goodpasture's syndrome (glomerulonephritis and

Anti-glomerular basement membrane antibodies
hemoptysis)

Drug-induced SLE (hydralazine, isoniazid,

Antihistone antibodies
phenytoin, procainamide, quinidine)

Rheumatoid arthritis (systemic inflammation, joint

Anti-IgG antibodies
pannus, boutonnière deformity)

Primary biliary cirrhosis (female, cholestasis,

Antimitochondrial antibodies (AMAs)
portal hypertension)

Vasculitis (c-ANCA: Wegener's; p-ANCA:

Antineutrophil cytoplasmic antibodies (ANCAs) microscopic polyangiitis, Churg-Strauss
syndrome)

SLE (type III hypersensitivity); anti-dsDNA

Antinuclear antibodies (ANAs: anti-Smith and anti-
correlates with disease activity, anti-Smith does
dsDNA)
not

Idiopathic thrombocytopenic purpura (ITP)

Antiplatelet antibodies
(bleeding diathesis)

Anti-topoisomerase antibodies Diffuse systemic scleroderma

Anti-transglutaminase/antigliadin/anti-endomysial
Celiac disease (diarrhea, distension, weight loss)
antibodies
 Auer rods (Acute myelogenous leukemia:
Azurophilic granular needles in leukemic blasts
especially the promyelocytic type)

Ankylosing spondylitis (chronic inflammatory

"Bamboo spine" on x-ray
arthritis: HLA-B27)

Howell-Jolly bodies (due to splenectomy or

Basophilic nuclear remnants in RBCs
nonfunctional spleen)

Basophilic stippling of RBCs Lead poisoning or sideroblastic anemia

Bloody tap on LP Subarachnoid hemorrhage

"Boot-shaped" heart on x-ray Tetralogy of Fallot, RVH

Branching gram-positive rods with sulfur granules Actinomyces israelii

Pancoast's tumor (can compress sympathetic

Bronchogenic apical lung tumor
ganglion and cause Horner's syndrome)

Hemorrhage (hemosiderin) causes brown color

"Brown" tumor of bone of osteolytic cysts. Due to: 1.
Hyperparathyroidism 2. Osteitis fibrosa cystica

Cardiomegaly with apical atrophy Chagas' disease (Trypanosoma cruzi)

Rapidly progressive crescentic

Cellular crescents in Bowman's capsule
glomerulonephritis

"Chocolate cyst" on ovary Endometriosis (frequently involves both ovaries)

Circular grouping of dark tumor cells surrounding Homer Wright rosettes (neuroblastoma,
pale neurofibrils medulloblastoma, retinoblastoma)

Cystic fibrosis (CFTR mutation in Caucasians

Colonies of mucoid Pseudomonas bugs resulting in fat-soluble vitamin deficiency and
mucous plugs)

Degeneration of dorsal column nerves Tabes dorsalis (tertiary syphilis)

Parkinson's disease (basal ganglia disorder:

Depigmentation of neurons in substantia nigra
rigidity, resting tremor, bradykinesia)

Curschmann's spirals (bronchial asthma; can

Desquamated epithelium casts in sputum
result in whorled mucous plugs)
 Call-Exner bodies (granulosa-theca cell tumor of
Disarrayed granulosa cells in eosinophilic fluid
the ovary)

Dysplastic squamous cervical cells with nuclear

Koilocytes (HPV: predisposes to cervical cancer)
enlargement and hyperchromasia

Enlarged cells with intranuclear incluusion bodies "Owl's-eye" appearance of CMV

"Orphan Annie" eye nuclei (papillary carcinoma

Enlarged thyroid cells with ground-glass nuclei
of the thyroid)

Eosinophilic cytoplasmic inclusion in liver cell Mallory bodies (alcoholic liver disease)

Eosinophilic cytoplasmic inclusion in nerve cell Lewy body (Parkinson's disease)

Councilman body (toxic or viral hepatitis, often

Eosinophilic globule in liver
yellow fever)

Eosinophilic inclusion bodies in cytoplasm of

Rabies virus (Lyssavirus); Negri bodies
hippocampal nerve cells

Extracellular amyloid deposition in gray matter of

Senile plaques (Alzheimer's disease)
brain

Giant B cells with bilobed nuclei with prominent

Reed-Sternberg cells (Hodgkin's lymphoma)
inclusions ("owl's eye")

Glomerulus-like structure surrounding vessel in germ

Schiller-Duval bodies (yolk sac tumor)
cells

β-thalassemia, sickle cell anemia (marrow

"Hair-on-end" (crew-cut) appearance on x-ray
expansion)

Choriocarcinoma, hydatidiform mole (occurs with

hCG elevated
and without embryo)

Heart nodules (inflammatory) Aschoff bodies (rheumatic fever)

Heterophile antibodies Infectious mononucleosis (EBV)

Hexagonal, double-pointed, needle-like crystals in Bronchial asthma (Charcot-Leyden crystals:

bronchial secretions eosinophilic granules)

High level of D-dimers DVT, pulmonary embolism, DIC

Hilar lymphadenopathy, peripheral granulomatous Ghon complex (Primary TB: Mycobacterium

lesion in middle or lower lung lobes (can calcify) bacilli)

"Honeycomb lung" on x-ray Interstitial fibrosis

Hypersegmented neutrophils Megaloblastic anemia (B12, folate deficiency)

Iron deficiency anemia, lead poisoning,

Hypochromic, microcytic anemia
thalassemia (HbF sometimes present)

Increased α-fetoprotein in amniotic fluid/maternal Anencephaly, spina bifida (neural tube defects),
serum multiple gestation, abdominal wall defects

Decreased α-fetoprotein Down syndrome

Gout, Lesch-Nyhan syndrome, tumor lysis

Increased uric acid levels
syndrome, loop and thiazide diuretics

Intranuclear eosinophilic droplet-like bodies Cowdry type A bodies (HSV or yellow fever)

Ferruginous bodies (asbestosis: increased

Iron-containing nodules in alveolar septum
chance of mesothelioma)

Large lysosomal vesicles in phagocytes, Chédiak-Higashi disease (congential failure of

immunodeficiency phagolysosome formation)

Low serum ceruloplasmin Wilson's disease (hepatolenticular degeneration)

"Lumpy-bumpy" appearance of glomeruli on Poststreptococcal glomerulonephritis (immune

immunofluorescence complex deposition of IgG and C3b)

Lytic ("hole-punched") bone lesions on x-ray Multiple myeloma

Mammary gland ("blue-domed") cyst Fibrocystic change of the breast

1. Multiple myeloma (called the M protein, usually

IgG or IgA) 2. Monoclonal gammopathy of
undetermined significance (MGUS; normal
Monoclonal antibody spike (4 things)
consequence of aging) 3. Waldenström's
macroglobulinemia (M protein = IgM) 4. Primary
amyloidosis

Bence Jones proteins (multiple myeloma [kappa

Monoclonal globulin protein in blood/urine or lambda Ig light chains in urine]),
Waldenström's macroglobulinemia (IgM)

Mucin-filled cell with peripheral nucleus Signet ring (gastric carcinoma)

Narrowing of bowel lumen on barium radiograph "String sign" (Crohn's disease)

Needle-shaped, negatively birefringent crystals Gout (hyperuricemia)

Kimmelstiel-Wilson nodules (diabetic

Nodular hyaline deposits in glomeruli
nephropathy)

"Nutmeg" appearance of liver Chronic passive congestion of liver due to RHF

"Onion-skin" periosteal reaction Ewing's sarcoma (malignant round-cell tumor)

Periosteum raised from bone, creating a triangular Codman's triangle on x-ray (osteosarcoma,
area Ewing's sarcoma, pyogenic osteomyelitis)

Minimal change disease (child with nephrotic

Podocyte fusion on EM
syndrome)

Polished, "ivory-like" appearance of bone at cartilage Eburnation (osteoarthritis resulting in bondy

erosion sclerosis)

Protein aggregates in neurons from Neurofibrillary tangles (Alzheimer's disease and

hyperphosphorylation of protein tau CJD)

Pseudopalisading tumor cells on brain biopsy Glioblastoma multiforme

RBC casts in urine Acute glomerulonephritis

Rectangular, crystal-like, cytoplasmic inclusions in

Reinke crystals (Leydig cell tumor)
Leydig cells

Renal epithelial casts in urine Acute toxic/viral nephrosis

Rhomboid crystals, positively birefringent Pseudogout (calcium pyrophosphate dihydrate)

Rib notching Coarctation of the aorta

Sheets of medium-sized lymphoid cells ("starry sky" Burkitt's lymphoma (t[8;14] c-myc activation,
appearance on histology) associated with EBV)

Silver-staining spherical aggregation of tau proteins Pick bodies (Pick's disease: progressive
in neurons dementia, similar to Alzheimer's)

"Soap bubble" in femur or tibia on x-ray Giant cell tumor of bone (generally benign)

"Spikes" on basement membrane, "dome-like" Membranous glomerulonephritis (may progress

endothelial deposits to nephrotic syndrome)
 Rouleaux formation (high ESR, multiple
Stacks of RBCs
myeloma)

Stippled vaginal epithelial cells "Clue cells" (Gardnerella vaginalis)

"Tennis-racket"-shaped cytoplasmic organelles (EM) Birbeck granules (histiocytosis X: eosinophilic

in Langerhans cells granuloma)

Lines of Zahn (arterial thrombus, layers of

Thrombi made of white/red layers
platelets/RBCs)

"Thumb sign" on lateral x-ray Epiglottitis (Haemophilis influenzae)

Thyroid-like appearance of kidney Chronic bacterial pyelonephritis

"Tram-track" appearance on LM Membranoproliferative glomerulonephritis

Fatty liver disease (alcoholic or metabolic

Triglyceride accumulation in liver cell vacuoles
syndrome)

WBCs that look "smudged" CLL (almost always B cell; affects the elderly)

"Wire loop" glomerular appearance on LM Lupus nephropathy

Yellow CSF Xanthochromia (subarachnoid hemorrhage)

Actinic (solar keratosis) Precursor to squamous cell carcinoma

Cushing's ulcer (increased ICP stimulates vagal

Acute gastric ulcer associated with CNS injury
gastric secretion)

Curling's ulcer (greatly reduced plasma volume

Acute gastric ulcer associated with severe burns
results in sloughing of gastric mucosa)

Alternating areas of transmural inflammation and

Skip lesions (Crohn's disease)
normal colon

Aneurysm, dissecting Hypertension

Aortic aneurysm, abdominal and descending aorta Atherosclerosis

Aortic aneurysm, ascending Tertiary syphilis, Marfan's syndrome

Wernicke's encephalopathy (thiamine deficiency

Atrophy of the mammillary bodies
causing ataxia, ophthalmoplegia, and confusion)
Autosplenectomy (fibrosis and shrinkage) Sickle cell anemia (HbS)

Bacteria associated with stomach cancer H. pylori

Bacterial meningitis (adults and elderly) Neisseria meningitidis

Group B streptococcus (newborn), S.

Bacterial meningitis (newborns and kids)
pneumoniae/Neisseria meningitidis (kids)

Benign melanocytic nevus Spitz nevus (most common in first two decades)

Bernard-Soulier disease (defect in platelet

Bleeding disorder with GpIb deficiency
adhesion to von Willebrand's factor)

Suptatentorial: mets > astrocytoma (including

Brain tumor (adults) - general type and most
glioblastoma multiforme) > meningioma >
common
schwannoma

Infratentorial: medulloblastoma (cerebellum) or

Brain tumor (kids) - most common & location
supratentorial: craniopharyngioma (cerebrum)

Infiltrating ductal carcinoma (in the US, 1 in 9

Breast cancer
women will develop breast cancer)

1. Fibrocystic change 2. Carcinoma (in

Breast mass
postmenopausal women)

Breast tumor (benign) Fibroadenoma

Cardiac primary tumor (kids) Rhabdomyoma

Libman-Sacks endocarditis (nonbacterial,

Cardiac manifestation of lupus
affecting mitral)

1. Metastasis 2. Primary myxoma (4:1 LA to RA;

Cardiac tumor (adults)
"ball and valve")

Chiari malformation (often presents with

Cerebellar tonsillar herniation
progressive hydrocephalus or syringomyelia)

Atrial fibrillation (associated with high risk of

Chronic arrhythmia
emboli)

Predisposition to gastric carcinoma (can also

Chronic atrophic gastritis (autoimmune)
cause pernicious anemia)
Clear cell adenocarcinoma of the vagina DES exposure in utero

Congenital adrenal hyperplasia, hypotension 21-hydroxylase deficiency

Congential cardiac anomaly (most common) VSD

Constrictive pericarditis in developing world Tuberculosis

Coronary artery involved in thrombosis LAD>RCA>LCA

Cretinism Iodine deficit/hypothyroidism

1. Corticosteroid therapy 2. Excess ACTH

Cushing's syndrome
secretion by pituitary

Tetralogy of Fallot, transposition of great vessels,

Cyanosis (early; less common) truncus arteriosus, tricuspid atresia, total
anomalous pulmonary venous return (5 T's)

Cyanosis (late; more common) VSD, ASD, PDA

Death in CML Blast crisis

Death in SLE Lupus nephropathy

Dementia 1. Alzheimer's disease 2. Multiple infarcts

Demyelinating disease in young women Multiple sclerosis

Gram-negative sepsis, obstetric complications,

DIC
cancer, burn trauma

Dietary deficit Iron

Zenker's diverticulum (diagnosed by barium

Diverticulum in pharynx
swallow)

Ejection click Aortic/pulmonic stenosis

Squamous cell carcinoma (worldwide);

Esophageal cancer
adenocarcinoma (US)

Food poisoning (exotoxin mediated) S. aureus, B. cereus

Glomerulonephritis (adults) Berger's disease (IgA nephropathy)

Gynecologic malignancy (most common) Endometrial carcinoma

Heart murmur, congential Mitral valve prolapse

Mitral (rheumatic fever), tricuspid (IV drug

Heart valve in bacterial endocarditis
abuse), aortic (2nd affected in rheumatic fever)

1. Enterobius vermicularis (pinworm--Scotch tape

Helminth infection (US)
test) 2. Ascaris lumbricoides

Rupture of middle meningeal artery (crescent

Hematoma-epidural
shaped)

Rupture of bridging veins (trauma; lentiform

Hematoma-subdural
[biconvex] shaped)

Multiple blood transfusions or hereditary HFE

Hemochromatosis mutation (can result in CHF, "bronze diabetes,"
and increased risk of hepatocellular carcinoma)

Cirrhotic liver (often associated with hepatitis B

Hepatocellular carcinoma
and C)

Hereditary bleeding disorder von Willebrand's disease

Gilbert's syndrome (benign congential

Hereditary harmless jaundice
unconjugated hyperbilirubinemia)

Ankylosing spondylitis, Reiter's

HLA-B27 syndrome/reactive arthritis, ulcerative colitis,
psoriasis

Diabetes mellitus type 1, rheumatoid arthritis,

HLA-DR3 or -DR4
SLE

Holosystolic murmur VSD, tricuspid regurgitation, mitral regurgitation

Hypercoagulability, endothelial damage, blood stasis Virchow's triad (results in venous thrombosis)

Hypertension, secondary Renal disease

Hypoparathyroidism Thyroidectomy

Hypopituitarism Pituitary adenoma (usually benign tumor)

Infection secondary to blood transfusion Hepatitis C

 1. Calcium = radiopaque 2. Struvite (ammonium)
= radiopaque (formed by urease-positive
Kidney stones
organisms such as Proteus vulgaris or
Staphylococcus) 3. Uric acid = radiolucent

Eisenmenger's syndrome (caused by ASD, VSD,

Late cyanotic shunt (uncorrected L-->R becomes R--
PDA; results in pulmonary
>L)
hypertension/polycythemia)

Liver disease Alcoholic cirrhosis

Lysosomal storage disease Gaucher's disease

Male cancer Prostatic carcinoma

Malignancy associated with noninfectious fever Hodgkin's lymphoma

Malignant skin tumor Basal cell carcinoma (rarely metastasizes)

Mental retardation 1. Down syndrome 2. Fragile X syndrome

Metastases to bone Breast, lung, thyroid, testes, prostate, kidney

Lung, breast, skin (melanoma), kidney (renal cell

Metastases to brain
carcinoma), GI

Colon, gastric, pancreatic, breast, and lung

Metastases to liver
carcinomas

Mitral valve stenosis Rheumatic disease

Mixed (UMN and LMN) motor neuron disease ALS

Myocarditis (virus that causes) Coxsackie B

Neoplasm (kids) 1. ALL 2. Cerebellar medulloblastoma

Nephrotic syndrome (adults) Membranous glomerulonephritis

Minimal change disease (associated with

Nephrotic syndrome (kids)
infections/vaccinations; treat with corticosteroids)

Nosocomial pneumonia Klebsiella, E. coli, Pseudomonas aeruginosa

Obstruction of male urinary tract BPH

Opening snap Mitral stenosis

Pneumocystis jiroveci (formerly carinii)

Opportunistic infection in AIDS
pneumonia

Osteomyelitis S. aureus

Osteomyelitis in sickle cell disease patients Salmonella

Osteomyelitis with IV drug abuse Pseudomonas, S. aureus

Ovarian metastasis from gastric carcinoma or breast Krukenbery tumor (mucin-secreting signet-ring
cancer cells)

Ovarian tumor (benign) Serous cystadenoma

Ovarian tumor (malignant) Serous cystadenocarcinoma

Pancreatitis (acute) Gallstones, alcohol

Pancreatitis (chronic) Alcohol (adults), cystic fibrosis (kids)

ALL: child, CLL: adult>60, AML: adult>60, CML:

Patient with ALL/CLL/AML/CML
adult 35-50

Pelvic inflammatory disease Neisseria gonorrhoeae (monoarticular arthritis)

CML (may sometimes be associated with

Philadelphia chromosome t(9;22) (bcr-abl)
AML/ALL)

1. Prolactinoma 2. Somatotrophic "acidophilic"

Pituitary tumor
adenoma

Primary amenorrhea Turner syndrome (XO)

Primary bone tumor (adults) Multiple myeloma

Primary hyperaldosteronism Adenoma of adrenal contex

Primary hyperparathyroidism 1. Adenomas 2. Hyperplasia 3. Carcinoma

Hepatocellular carcinoma (chronic hepatitis,

Primary liver cancer
cirrhosis, hemochromatosis, α-1 antitrypsin)

Pulmonary hypertension COPD

Recurrent inflammation/thrombosis of small/medium Buerger's disease (strongly associated with
vessels in extremities tobacco)

Renal cell carcinoma: associated with von

Hippel-lindau and adult polycystic kidney
Renal tumor
disease; paraneoplastic syndromes
(erythropoietin, renin, PTH, ACTH)

Right heart failure due to a pulmonary cause Cor pulmonale

Increased ventricular filling (L-->R shunt, mitral

S3 (protodiastolic gallop)
regurgitation, LV failure [CHF])

Stiff/hypertrophic ventricle (aortic stenosis,

S4 (presystolic gallop)
restrictive cardiomyopathy)

Secondary hyperparathyroidism Hypocalcemia of chronic kidney disease

Sexually transmitted disease Chlamydia (usually coinfected with gonorrhea)

SIADH Small cell carcinoma of the lung

Site of diverticula Sigmoid colon

Sites of atherosclerosis Abdominal aorta > coronary > popliteal > carotid

Stomach cancer Adenocarcinoma

Zollinger-Ellison syndrome (gastrinoma of

Stomach ulcerations and high gastrin levels
duodenum or pancreas)

t(14;18) Follicular lymphomas (bcl-2 activation)

t(8;14) Burkitt's lymphoma (c-myc lymphoma)

t(9;22) Philadelphiachromosome, CML (bcr-abl hybrid)

Risk of ipsilateral blindness due to thrombosis of

Temporal arteritis
ophthalmic artery; polymyalgia rheumatica

Testicular tumor Seminoma

Thyroid cancer Papillary carcinoma

Tumor in women Leiomyoma (estrogen dependent)

 Hemangioma (usually regresses spontaneously
Tumor of infancy
by childhood)

Tumor of the adrenal medulla (adults) Pheochromocytoma (usually benign)

Tumor of the adrenal medulla (kids) Neuroblastoma (malignant)

Nodular sclerosis (vs. mixed cellularity,

Type of Hodgkin's lymphocytic predominance, lymphocytic
depletion)

Type of non-Hodgkin's Diffuse large cell

E. coli, Staphylococcus saprophyticus (young,

UTI
sexually-active women)

Viral encephalitis affecting temporal lobe HSV

Folic acid (pregnant women are at high risk; body

Vitamin deficiency (US) stores only 3- to 4-month supply; prevents neural
tube defects)

Sensitivity TP/(TP+FN)

Specificity TN/(TN+FP)

Positive predictive value TP/(TP+FP)

Negative predictive value TN/(TN+FN)

Relative risk (a/[a+b])/(c/[c+d])

Attributable risk (a/[a+b]) - (c/[c+d])

Number needed to treat 1/absolute risk reduction

Number needed to harm 1/attributable risk

Hardy-Weinberg equilibrium p^2+2pq+q^2 = 1 p+q = 1

Henderson-Hasselbalch equation pH = pKa + log([HCO3-]/0.03PCO2)

Amount of drug in the body/plasma drug

Volume of distribution
concentration
 Rate of elimination of drug/plasma drug
Clearance
concentration

t1/2 = (0.7xVd)/CL Vd = volume of distribution CL

Half-life
= clearance

Loading dose Cp x(Vd/F)

Maintenance dose Cp x CL/F

Rate of O2 consumption/(arterial O2 content-

Cardiac output
venous O2 content) Stroke volume x heart rate

Cardiac output x total peripheral resistance 2/3

Mean arterial pressure
diastolic pressure + 1/3 systolic pressure

Stroke volume end diastolic volume - end systolic volume

Ejection fraction (Stroke volume/end diastolic volume) x 100

Resistance Driving pressure/flow (8viscosity x length)/πr^4

Net filtration pressure [(Pc-Pi)-(πc-πi)]

U of inulin x (V/P of inulin) GFR = C of inulin

Glomerular filtration rate
Kf[(Pgc-Pbs)-(πgc-πbs)]

Effective renal plasma flow U of PAH x (V/P of PAH) ERPF = C of PAH

Renal blood flow RPF/(1-Hct)

Filtration fraction GFR/RPF

Physiologic dead space Vt x ([PaCO2 - PeCO2]/PaCO2)

Abdominal pain, ascites, hepatomegaly Liver

Budd-Chiari syndrome (AKA posthepatic venous
congestion --> portal htn Looks like CHF but there is
thrombosis)
no JVD

Achilles tendon xanthoma Very high LDL Familial hypercholesterolemia

Waterhouse-Friderichsen syndrome
Adrenal hemorrhage, hypotension, DIC
(meningococcemia; N. meningititis septicemia)

Arachnodactyly, lens dislocation, aortic dissection,

Marfan's syndrome
hyperflexible joints. Fibrillin defect.
Back pain, fever, night sweats, weight loss. Same
Pott's disease (vertebral TB); TB
presentation w/out back pain...

Big toe extension/fanning upon planar scrape.

Associated with hyper-reflexia and spastic paralysis
Babinski's sign
due to loss of inhibition from CNS indicating a UMN
lesion.

Bilateral hilar adenopathy, uveitis, noncaseating

Sarcoidosis
granulomas.

Blue sclera; collagen type I defect Osteogenesis imperfecta

Bluish line on gingiva Burton's line (lead poisoning)

Bone pain, bone enlargement, hat doesn't fit,

arthritis, fractures. Increased ALP Increased
Paget's disease of bone
osteoblastic and osteoclastic activity (excess bony
turnover)

Neurofibromatosis type I (+ bilateral acoustic

Cafe-au-lait spots, Lisch nodules (iris hamartomas)
neuroma = type II)

Calf pseudohypertrophy (excess fatty and connective Muscular dystrophy (Duchenne's most
tissue) commonly)

Tay-Sachs (ganglioside accumulation) Niemann-

"Cherry-red spot" on macula Pick (lysosomal storage disorder) Central retinal
artery occlusion

Chest pain, pericardial effusion/friction rub,

persistent fever following MI. Autoimmune mediated Dressler's syndrome
post-MI fibrinous pericarditis; occurs weeks after MI.

Gower's sign (Duchenne's: X-linked recessive

Child uses arms to stand up from squat.
deleted dystrophin gene)

Child with fever develops red rash on face that "Slapped cheek" (Parvo B19, erythema
spreads to body. infectiosum/Fifth disease)

Chorea, dementia (Crazy), Caudate degeneration,

decrease AcH Autosomal Dominant, shows Huntingon's disease
anticipation CAG repeat expansion

Chronic exercise intolerance with myalgia, fatigue,

McArdles's disease
painful cramps. Muscle phosphorylase deficiency.

Cold intolerance Hypothyroidism

Conjugate lateral gaze palsy, horizontal diplopia,
CAN converge. Paralysis of adducting eyes;
Internuclear ophthalmoplegia
nystagmus of abducting eye. Damage to MLF;
bilateral [MS], unilateral {stroke]

PDA (close with indomethacin; open with

Continuous "machine-like" murmur
misoprostol)

Cutaneous/dermal edema due to connective tissue

Myxedema (hypothyroidism, Graves' disease)
deposition.

Dark purple skin/mouth nodules Usually AIDS pts

[gay men]: associated with HHV-8 Looks like Kaposi's sarcoma
bacillary angiomatosis

Deep, labored breathing/hyperventilation

Kussmaul breathing
SLOOOOOOW! Blowing off CO2 Seen in DKA

3D's: Dermatitis, dementia, diarrhea Pellagra (Niacin [B3] deficiency)

Dialated cardiomyopathy, edema, polyneuropathy. Wet beriberi [Polyneuropathy alone = dry

Associated with thiamine (B1) deficiency. beriberi]

Dog or cat bite resulting in infection Pasturella multocida

Dry eyes, dry mouth, arthritis. Autoimmune

Sjogren's syndrome
destruction of exocrine glands (salivary/lacrimal).

Dysphagia (due to esophageal webs), glossitis, iron

(Fe) deficiency anemia. May progress to esophageal Plummer-Vinson syndrome
squamous cell carcinoma.

Elastic skin, hypermobility of joints. Collagen type III

Ehlers-Danlos syndrome
(bloody) defect.

Enlarged, hard left supraclavicular node. Sign of

Virchow's node
abdominal or stomach cancer metastasis. Poor Px.

Erythroderma, lymphadenopathy, Sezary syndrome (cutatneous T-cell lympoma) or

hepatosplenomegaly, atypical T-cells. mycosis fungoides.

Facial muscle spasm upon tapping. Associated lab

Chvostek's sign
value includes hypocalcemia.

Female, fat, forty, fertile (4F's). Obstruction of bile

Acute cholilithiasis.
duct.

Fever, chills, headache, myalgia following antibiotic Jarisch-Herxheimer reaction

treatment for syphilis (spirochete: tryponema
pallidum). Rapid lysis of spirochetes results in toxin
release.

Fever, cough, conjunctivitis, coryza, diffuse rash,

Measles (Morbillivirus)
photophobia. (3C's and a P)

Fever, night sweats, weight loss. B symptoms (lymphoma); TB

Fibrous plaques in soft tissue of penis. Connective

Peyronie's disease
tissue disorder.

Gout, mental retardation, self-mutilating behavior in a

Lesch-Nyhan syndrome
boy. HGPRT deficiency.

Green-yellow (oxidized copper) rings around

peripheral cornea. Due to copper accumulation from Kayser-Fleischer rings
Wilson's disease.

Hamartomatous GI polyps, hyperpigmentation of

mouth/feet/hands. Genetic benign polyps can cause Peutz-Jeghers syndrome
bowel obstruction; Slight increase in cancer risk.

Hepatosplenomegaly, osteoporosis, neurologic

symptoms. Glucocerebroside deficiency. Crinkled Gaucher's disease
tissue paper cytoplasm.

Hereditary nephritis, sensorineural hearing loss,

cataracts. Collagen mutation, thick and thing
Alport's syndrome
basement membrane on EM, "basket weave"
appearance. "Can't see, can't pee, can't hear."

Hypergoagulability (leading to migrating DVT's and

vasculitis). Seen in adenocarcinoma of pancreas or Trousseau's sign
lung. Migrating thrombophlebitis.

Hyperphagia, hypersexuality, hyperorality,

hyperdocility. Bilateral amygdala lesion. "Amygdaloid Kluver-Bucy syndrome
monkey."

Hypertension, hypokalemia, metabolic acidosis. Conn's syndrome (primary hyperaldosteronism)

Hypoxemia, polycythemia, hypercapnia. Chronic

bronchitis (hyperplasia of mucus cells in bronchioli). "Blue bloater"
Increased REID index.

Indurated, ulcerated genital lesion (non-painful) Chancre of primary syphilis: Treponema pallidum
Infant with failure to thrive, hepatosplenomegaly,
neurodegeneration. Genetic sphingomyelinase Niemann-Pick disease
deficiency. Cherry red spot on macula.

Infant with hypoglycemia (b/c they are not able to

regulate sugar using glycogenolsys), failure to thrive,
Cori's Disease [Von Gierke's is the same plus
hepatomegaly. Debranching Enzyme deficiency.
absent gluconeogenesis.
Glycogen stored in liver can't undergo
glycogenolysis --> hepatomegaly.

Infant with microcephaly, rocker bottom feet

[pathomnemonic], structural heart defects. Trisomy Edward's syndrome
18

Jaundice, RUQ pain, fever Charcot's triad of ascending cholangitis.

Squamous cell carcinoma (all squamous cell

Keratin pearls on skin lesion.
cancers)

Large rash w/ bull's eye appearance. Associated

Erythema chronicum migrans
with tick bite. Lyme disease: Borrelia

Lucid interval after traumatic brain injury. "Talk and

Epidural hematoma
Die"

Male child, recurrent infections, no mature B cells. X-

Bruton's disease
linked agammaglobulinemia.

Mucosal bleeding and prolonged bleeding time.

Defect in platelet aggregation due to lack of Glanzmann's thrombasthemia
GpIIb/IIIa

Multiple colon polyps, osteomas/soft tissue tomors,

impacted/supernumerary teeth. Genetic disorder that
Gardner's syndrome
predisposes to colon cancer. "Growing stuff all over
the place."

Necrotizing vasculitis (lungs) and necrotizing

Wegener's (add sinusitis as symptom) and
glomerulonephritis. Hemoptysis and glomerular
Goodpasture's (Anti-GBM)
disease.

Neonate with arm paralysis following difficult birth.

Superior trunk [C5,C6] brachial plexus injury:
Erb-Duchenne palsy
"Waiter's tip" deformity. Often associated w/ clavicle
fracture.

No lactation post partum, absent menstruation, cold Sheehan's syndrome

intolerance. Multiple pituitary hormones not working.
Post partum hemorrhage --> hypotension -->
pituitary infarct -> necrosis --> no hormones.

Nystagmus, intention tremor, scanning speech Charcot's triad of MS

Oscillating slow/fast breathing. Central apnea in CHF

Cheyne-Stokes respirations
or increased intracranial pressure.

Painful blue fingers/toes, hemolytic anemia.

Autoimmune hemolytic anemia caused by
Cold Agglutinin disease
Mycoplasma pneumoniae, infectious mono).
Agglutination of IgM.

Painful, pale, cold fingers/toes. Vasospasm in

extremities. Occurs after being in a cold environment Raynaud's syndrome
(ex. putting hands in refrigerator)

Painful, raised red lesions on palms and soles. Seen

Osler's node
with infective endocarditis.

Painless jaundice Caner of pancreatic head obstructing bile duct

Palpable purpura, joint pain, abdominal pain (child),

renal disease, self-limited. IgA vasculitis affecting Henoch-Schonlein purpura
skin and kidneys.

Pancreatic, pituitary, parathyroid tumors (The P's) Wermer's syndrome (MEN 1)

"Pink puffer" [emphysema: centroacinar

Pink complexion, dyspnea, hyperventilation. (smoking), panacinar (alpha1-antitrypsin
deficiency)]

Polyostotic fibrous dysplasia, precocious puberty,

cafe-au-lait spots, short stature in a young girl. McCune-Albright syndrome
Mosaic G-protein signaling mutation.

Polyuria, acidosis, growth failure, electrolyte

imbalances. Proximal tubular (PCT) reabsorption Fanconi's syndrome
defect.

Positive anterior "drawer sign" Anterior cruciate ligament (ACL) injury

Ptosis, miosis, anhidrosis. Sympathetic chain lesion.

Sympathetic innervation can't reach the face. Horner's syndrome
Association with pancoast tumor.

Pupil accommodates but doesn't react; seen in

Argyll Robertson pupil (prostitutes pupil)
neurosyphilis.
RAPIDLY progressive leg weakness that ASCENDS
(following GI/upper respiratory infection), no sensory
Guillain-Barre syndrome
loss. Can lead to respiratory failure. Autoimmune
acute inflammatory demyelinating polyneuropathy.

Secondary syphillis, RMSF, coxsackie A

Rash on palms and soles
(hand/foot/mouth dz)

Recurrent colds, unusual eczema (truncal), high

Job's syndrome (hyper IgE syndrome)
serum IgE. Neutrophil chemotaxis abnormality.

Red "currant jelly" sputum Klebsiella pneumoniae

"currant jelly" stool intussusception

Rusty sputum Strep pneumo

Red, itchy, swollen rash of nipple/areola. Represents

Paget's disease of breast
underlying neoplasm.

Red urine in the morning. Hb breakdown b/c

complement is attacking RBC's b/c they have a Paroxysmal nocturnal hemoglobinuria (PNH)
deficiency of CD55/CD59.

Renal cell carcinoma, hemangioblastomas,

angiomatosis, pheochromocytoma. Autosomal von Hippel-Lindau disease
dominant tumor suppressor gene mutation.

Resting tremor ("pill rolling"), rigidity, akinesia,

postural instability, paucity of movement. Parkinson's disease
Nigrostriatal dopamine depletion.

Restrictive cardiomyopathy (juvenile form:

cardiomegaly), exercise intolerance. Lysosomal Pompe's desease.
glucosidase deficiency.

Retinal hemorrhages with pale centers. Associated

Roth's spots
with bacterial endocarditis.

Severe jaundice in neonate. Congenital

Crigler-Najjar syndrome
unconjugated hyperbilirubinemia.

Severe RLQ pain with rebound tenderness. McBurney's sign (appendicitis)

Short stature, increased incidence of

tumors/leukemia, aplastic anemia. Genetically Fanconi's anemia
inherited. Often progresses to AML.
Single palm crease Simian crease (seen in Down's)

Situs inversus, chronic sinusitis, bronchiectasis,

infertility. Dyenin defect affecting cilia. Cilia don't Kartagener's syndrome
work so they can't clear stuff from lungs/sinuses.

Skin hyperpigmentation, more ACTH and MSH,

primary adrenocorticalinsufficiency of autoimmune or Addison's disease
infectious etiology.

Slow, progressive muscle weakness in boys. X-

linked, defective dystrophin. Less severe than Becker's muscular dystrophy
Duchenne's.

Small, irregular red spots on buccal/lingual mucosa

Koplik spots (measles)
with blue-white centers.

Small, nontender, erythematous lesions on

Janeway lesions
palms/soles. Associated with infective endocarditis.

Smooth, flat, moist white lesions on genitals.

Condylomata lata
Associated with secondary syphilis.

Splinter hemorrhages in fingernails (not always) Bacterial endocarditis

Scarlet fever, Kawasaki disease, toxic shock

"Strawberry tongue"
syndrome

Streak ovaries, congenital heart disease, horseshoe

kidney, coarctation of the aorta, XO, short stature, Turner's syndrome
webbed neck, lymphedema.

Sudden swollen/painful big toe joint, tophi (when

urate crystals aggregate w/ neutrophils around it), Gout/podagra
hyperuricemia (not always)

Swollen gums, mucous bleeding, poor wound

healing, spots on skin. Vitamin C deficiency: can't Scurvy
hydroxylate proline/lysine for collagen synthesis.

Swollen, hard, painful finger joints. Osteophytes on

Osteoarthritis
PIP [Bouchard's nodes], DIP [Heberden's nodes]

Systolic ejection murmur (crescendo-decrescendo) Aortic valve stenosis

Thyroid, parathyroid, adrenal tumors,

Sipple's syndrome (MEN 2A)
pheochromocytoma.
Ulcerated genital lesion with exudate (painful) Chancroid of Haemophilus ducreyi

Bell's palsy (LMN CN VII palsy); if only lower half

Unilateral facial dropping (entire 1/2 of face) of one side of face affected it's an UMN lesion;
bilateral = lyme dz or guillan-barre.

Urethritis, conjuctivitis, arthritis in a male. Reactive

arthritis associated with HLA-B27. Seronegative (no Reiter's syndrome
increased RF)

Vascular birthmark (port-wine-stain). Benign, but

associated with Sturge-Weber syndrome (port wine
Hemangioma
stain in opthalmic division of trigeminal nerve -->
seizures)

Vasculitis from exposure to endotoxin causing

glomerular thrombosis. Following second exposure Shwartzman reaction
to endotoxin.

Vomiting blood following esophagogastric lacerations

(hematamesis). Seen in alcoholics, eating disorders, Mallory-Wiess syndrome
eating contests.

"Waxy" casts with very low urine flow Chronic ESRD

WBC casts in urine Acute pyelonephritis

Weight loss, diarrhea, arthritis, fever, adenopathy Whipple's disease (Tropheryma whippelii)

"Worst headache of my life", subarachnoid

Berry aneurysm
hemorrhage, associated with ADPKD.