Case Based Learning (CBL) Sl ] Date Topic Signature of student Signature of Faculty | aolulss Tron defecfency Anemta Senora as}ulas Sumy 2q\ul23, Physfologtcar Toundtce whiat23, Typer Gywogen storaat clisease ever Gerke disease) aalulz3 Hemoly tte Jaundice allay Hepatte Toundice tghitag Post hepakfe Taundice No 1 2 3 4 5 6 ic 8 iqliata3 Gouoctosemfa. (anaes Bew - Ber? artialag vitamfn Bia defecteney niitay, Penagra saliioy VPtarntn Be defectency aliioy metabolite alkalosis 2s tilay Respfratery aikoiosts 2latey, Rickets -Case Based Learning (CBL) Sl No Date Topic Signature of student Signature of Faculty 16 6latau - VPtartn A defectenoy 17 ilalay Marrasmus 18 13l2tau Rwoshforkar 19 wlatey Hypothyroidism 20 2g}2i2y Hyper thyrotaism 21 arlaloy, Renat fofiurt 22 atleley Nephrotfe syndrome 23 | as hetew Metoboitc Pdtdosts 24 eslatoy Resptratory Actdosts . 25 te 26 27 28 29 30Y.. Sangha's §. Nijalingappa Medical College and Hanagal Shree Kumareshwar Hospital and Research Centre, Bagalkot Department of Biochemistry Case Report - Minor ‘A 18 year adolescent girl came to medicine OPD with her mother to seek the Physician consultation, Mother complains that her daughter was lethargic, looks pale, inability to do her fed. She is not looking normal and active compared to other excessive bleeding routine work and easily get fi girls of her age group. On further questioning she revealed she was having during menstrual cycle since six months. Mother also complains, she is choosy in her food habits mostly consist of fast foods and snacks. There was no ho fever, drug intake and abdominal pain, O/E Physician found she had tachycardia, conjunctiva and oral cavity looks pale and koilonychia. Blood investigation revealed Sample Reference range Haemoglobin gL [8.1 13-15 ‘Serum iron ng//aL_ 3B 30-150 Serum Ferritin mgt | 23 30-200 TIBC mg/L 360 300 = 350, Questions: 1. What is your probable diagnosis? >. What isthe cause in this patient? . Write the sources and RDA of deficient mineral |. Explain the absorption, storage, transport and excretion form of the element involved in this disease with neat labeled diagram. . Write the other causes for this condition What investigations are done to confirm the disease? . How will you treat this patient?1). The probabie cifagnosls Ps Tren clefectency anemPa ay Cause of Tron defecienty Anemia % due to - a@Tnadequare cfetary fntake of fron % © Poor absorptfon of dietary tron & Excessfre menstniat bite 3). Recommended Datiy Allowance Of Fron fH - tomgiday - mare 20 mgiday~ Femoite 18 mgiday- menstros Pemaies Sources 2 OT gon ma Iver: heart Kaney lary vegerabies , meats Sh, lentfis +beans, 5). Other Causes for fron defectenyy anemta, © Chronic QontrofnitstPnaL breeding CondfHon Suh Ob peptic ulter, Qantntis , PhHommatery bowel déseane- * Poor absorptton ot dietorry Pron due to gat Priesttnay de Condition © Biovd 106s rom Sources other nan menstruatton Such as hequent bicod donatfenor parasttic Pnfestartons- © Tnortased fron requivments during prgnany - 6). Tnvestfgatfons to confirm dfagnosfs ++ IDA ~ Complete Biood count Serumiron , Torar bmding capacfry to evaluate Pron Starus- Perfpheral biood Smear to arsess REC morphology - Endoswptc Procedures PF gastrofniesttnal bieeding fs Suspected- ¥)- Treatment for LA OraL fron Suppiementatfon Dietary mnodrffcatfens to Pnaude Pron rfch Poods Supplementation of Tron otong w(t fife autd and vitamfn c-= —_— Enreroay tt — Bicod Heme | reat | reat | Y | Feat yeauessa® oh ret pe ot TF) UY shea cm favces Low frons mre : Qa ——F gs _stransiaxions Rrrfn nor Synmesised- em Ep mmanrey 9 tra.ns\axondl—3 Fenrteto st a auttvaron Sy arhesise h- bates app-stron receptor preven —— poe 8 te Oo mame 3 Transiaxtonad wsvantn 9 Reto od c i synrnestse! RR MEN 3 por tmesseel eee re waguion? EA syoiness ron abserpron primanty ocuurs fn Chun dsrusre & Upper fefuruam oF 8x. za dupdinum diesary tron: presenk (nO forms . hue Form & non- hune form Tron Ps mostty found in Foods tn Rrrve form bound tv protein Tron Pn Ferrous form fs Soluble And readéyy abserbed - ,BV, Sangha's S. Nijalingappa Medical College and Hanagal Shree Kumareshwar Hospital and Research Centre, Bagalkot Department of Biochemistry Case Report - Minor A 10 year old boy presented with spongy bleeding gums and loose teeth. He also had painful joints and subcutaneous hemorrhage, Lab investigations revealed: Result Normal Value Vitamin C 0.1 mgidL. 04-15 mg/dL Hemoglobin 9.0 gidL 10-14 g/dL Peripheral smear was done and it showed microcytie hypochromic anemia with poikilocytosis, and anisocytosis. Questions: 1. What is the disease he is suffering from? 2. What is the biochemical basis for the disease? 3. Give the RDA & sourees for the concerned biomolecule. 4. Write other 2 functions of concerned mineral.Jd. The disease the boy fs Sufferfag from fs Itkety to be scurvy GQ condttfon Caused by vitarnin ¢ deferens J D Blochemteat bants for Scurvy PS defectenay of vitarntn Which MS essenttat for hydronylarton of proune & tysine e5tdue fm collagen synthesis. without adequase Wrarnfn c, conagen Synthesis fs Fmpatred, leading to Weakened Connective t155U2 Fneiudtng blood vesselg G guns Yesuting'n Symptoms Sun 5 breeding 94MS . loose teeth, pafmfu font and subcutantous hemorrhage- D- Recommended Dakiy Arowonce for vitamtn c-4 Yo-sv mg/day Sources of viramnc fnciude- Chtrus Frufts, Strausberries .brocouis dom deaty greens. ‘D- Other functfons of vitamin c- Enhanus tron absorption - vitamin fachitaes absorption OF non-heme fron from plant -babed fooas by converting. Ferric lyon Prto Perrmus ion whitch ts more Teadtiy ansorbed fh Pritestine. Aintfoufdant anttving- Wi-C asts as an anttowtdans sproveceing cens From damage caused by Ate recticar- Tmmune fanctfon- vit-c Supports fmmune sysitm by enhancing funuion of various Frmune cetts ,Preiuding aymphotyis » Phagoujtes etc.YY, Sangh S. Nijalingappa Medical College and Hanagal Shree Kumareshwar Hospital and Research Centre, Bagalkot Department of Biochemistry Case Report jor A full term normal delivery child, developed yellowish discoloration of sclera and palms ‘Unconjuagted biblrubin was 4 mg/dl on first day. It got elevated on 2™ and 3 day to 20 mg/dl. On examination there was hepato-splenomegaly, ascites and edema Questions : 1. What is your probable diagnosis? 2. What investigations are done to diagnose this condition? 3. What is prognosis and fatality? 4. What is the treatment for this disorder?2d The probapie dtagnosts ts neonatal faunettee a>. The Aoriowing are the frvestigations done to diagnose thts condition OD tivey Ruanetion test thine tests assess liver Punutton and evaluate for any signs of liver damagean hypyrbiiir CON Aft Keer Aunctton by: Btiivupin lever- measurement of total Serurn bPitrubPn level aasses to Seveniny of hypurbiimubinemta . © wttrasound or other tmaging stuaics tr asses Por htparvspieno = mmegauyy 4). Blood typing and Rh Poster testing For mother & baby to FdunttAy Rh fneomparibiity 39+ Prognosis - medicat term for Predtctfng ITkehood | expected Clevtiopment OF disease Including whether Stans G Symptoms util mprove or worsen Mid coges of Neonakot faunciice rtypicarty have good prognosis espectauy PF bitirubPn levels ave monftered closery & managed @ppropriately - Fakalfty -rehrs to occurence of death due to medfeal condftan. Fakaitties related to neonatal faundfce ane rare, sapelaniy with modem «medical Core Gnd treatment Such ad Phototherapy. 4). Treatment Por neonatal Joundte - Phototherapy - Exposure to Spectal atght that heip conver’ UNconfugared biiirubPn Into a. for thok can be exteted by body. Exchange transfusfon - yepiacement of baby’s bicod wrth donoy biood to remove btirubin fiom bioodsheam. Closely monttoring bhirabin leis and Citercal Status to prevent compiPeattons.BUY. Sangha’s $. Nijalingappa Medical College and Hanagal Shree Kumaresh and Research Centre, Bagalkot Department of Biochemistry Case Report - Minor A S-year old boy presented with weakness, pallor and distended abdomen. Pallor was climinated by intake of food. Mother gives the history of delayed milestones and was doing poorly in the school. On examination he was afebrile, pulse rate and blood pressure was normal and hepatomegaly. Blood investigations showed Test Reference range Blood glucose 50 70-110 mg/dL. T Cholesterol <200 mg/di. Triglycerides 150- 200 mg/dL. Free fatty acids 10-20 mg/dL Blood pH : 735-745 Lactate 04-2 mmol/L Uric acid 3-7 mg/dL Questions 1. What is your probable diagnosis? 2. Write the defective enzyme in this condition. 3. Write the biochemical basis for decreased blood glucose in this condition. 4. What is the acid base status in this condition?apeettteamy 480 bupeT 4). The Probanie diagnosts fy Ikely bo be Giytogen storage cMbeane~ ALS Know ay Vor Gierke tease ad. Mme clefective eneyme Mr giytogen storage Aiseane type E'% Guucose - 6 phosphatase « This enzyme deteremus resusts 1 fmpatredl giutose productfon From glycogen Eornur Bunstrases fr iter and Kidney teadfng bo hypogiycernta 3). Bfochemfcat basts for demtased biood giuusse tr Gsp type > fs tnabfitry of Ifver and Rédnuy to produce glucose through gtutoneogtnests And giycogenoiysis - G-6P defeckeney prevents cOnrerston UF G-6P to giuwse , Iradthg to Prpatred Qiucose release Into blood Sham» 4). Acid-Base Stobus in thts condition Ps likely to be metaboife acfdosts + The elevated lausare levels Prdtcare Pnuveased anaerobre metabolitm dueto Pmpafred giuwneoqenesis and giywgenorysis. The acturusotion of tavkake resuits Pn metaboite acidosis leadling to deetase in bed Pr-and Research Centre, Bi Department of Biochemistry Case Report - Major A.10 year old boy presents to medical OPD with chief complaints of fever with chills and rigors He also noticed yellow color of eyes and passing high colored urine. Lab investigations Reported value | Reference range ‘Serum bilirubin Total 46 meld 02-12 ‘Serum bilirubin Conjugated 08 mgd 01-04 Serum bilirubin Unconjugated | 3.8 mg/dl 01-06 Serum ALT 171 35 ‘Serum AST 14 TUL 73-45 ‘Serum ALP 30 10 30-150 Haemoglobin Seidl 1-14 Urine Analysis: Bile pigments Negative Urobilinogen Excess PS examination Malaria parasite Positive ‘Questions : |. What is the likely diagnosis based on relevant clinical history and lab findings? .. Mention the common cause: . Which test distinguish the two types of bilirubin and how? |. Why bile pigments are absent in the urine in this condition?0 DS:CSTqooOoo oO _—_—_—_— lll A) The key dfagnosts based on clfnfca history and ab Finding *S Hemoiytte Jaundfce due to molorfa Pnfeceton 22. Common cause of hemolytic Jaundice fneiude mararia inFectton » Glucose 6 phosphate Achydrogenare defenwency, srexie cet anunta,, hereditary Spherouytosis. The test that disttngukshes between confugared and unconfugased bfiirubfn fs van den Bergh test « When dfazo reagent fs added to Serum Sampie containing bfitruptn ‘Teastfon otturs. Emmedtarety fe fndfcates the presence of Conjugated btitrubin TF yeactfon taxes Some time to occur afier adaing diaz reagent %t Indicates presence of unconjugated biitrubin. 4). Ble pigments acre absent fn urine fn thPs Condition because the elevated levets of unconjugated biifrubin are not water Sbiubie And cannot be excreted fh urine + Instead, excess unconfugared bilirubin ts excreted fn stot aS UTvbtiinogen , whch ghves the stoor, Ts charaueristic brown colour -AVY. Sangh §. Nijalingappa Medical College and Hanagal Shree Kumareshwar Hospital and Research Centre, Bagalkot Department of Biochemistry A.40 year old woman had fever, nausea and anorexia for a period of one week. She had noticed that her urine had been dark in color over the past 2 days, On examination she revealed tendemess in the right upper quadrant of the abdomen. Liver fametion tests Reported v Reference range Serum bilirubin Total 6.5mg/dl 0.2-1.2 mg/dL. Serum Conjugated bilirubin 3.0 mg/di 01-04 mg/dL Serum Unconjugated bilirubin 3.5 mg/dl 0.1-0.7 mgidL ‘Serum ALT 936 TUL 5-45 1U/L ‘Serum AST 27010. 3-45 1U/L Serum ALP 360 107. 50-150 10 7L. ‘Serum Total protein: 64 mia 68 gid Serum albumin 23 gwd 33-3gaL Questions: 1. What is your diagnosis based on relevant clinical history and lab findings? 2. Why there is increase in both conjugated and unconjugated bilirubis 3. What is the common cause for the disorder? 4, Comment on protein levels.ay. ad. Based on ciinfcor history and lab Fading the dragnosis 1S HRetg Hepottc Joundtce. Th hepatic Joundtce, tht main etiology is heparic dysPunctton » by which heparoaytes are not abie to wnfugare the biirabtn nd /or not abie to excrete Pt to binary canaifeut due fo edermarous celt biociting the biblary channes « Tis type OF Joundice hence resuits Pn extess plosma ievel of unconfugared A> Wel Q» wonjugared biltribin. = Comenonest causes of hepatte Jaundice °5 frfeurton. Infection by hepattets A:8:c.D,E viruses. The Teswting hepattt’s Ror Only Tmpatrs uptaxe of bhitrubtn € fis tonfugarion , blockage oF bfitory canaitouts fmpatrs excretion of confugated bfitrubin- Toute fnsusts to iPrer due to varfous chumicals and noxfous agents uso damage Itver and cause hepartc Jounate “The decreased tevel of protetn and aibumtn Padicake Fmpatred Inver functton, as iter iS Tesponsibie for synthesising Entse Proteins. When Iver functton fs compromised, Synthests of these proteins is vreduted-BWV. Sangh S, Nijalingappa Medical College and Hanagal Shree Kumareshwar Hospital and Research Centre, Bagalkot Department of Biochemistry Case Report - Major A.36 year old man admitted to the hospital with a history of abdominal pain. He had yellow discoloration of the sclera, He was investigated and had the following laboratory values. Liver function tests Reported value | Reference range Total Serum bilirubin 19 mg/dl 0,2-1.2 mg/dL Serum Conjugated 18 mydl 0.104 mg/dL Serum Unconjugated T mg/dl 01-06 mgidL Serum ALT 83 U/L 5-45 1U/L Scrum AST PIU 5-45 1U/L ‘Serum ALP 870 1U/L 40- 150 1U/L Urine analysis Urobilinogen Bile salts Bile pigments Feces Clay colored Questions: ‘What is your diagnosis relevant jo clinical history and lab findings? Why his ALP is raised? i ;. Mention the common cause for this disorder. |. Name the bile salts and bile acids. . Why urobilinogen absent in urine.4) The dtagnosts based on cifatcas Mistery and (ob obstrucetve Taunatce Hkely Caused by an obstrudfon fo trac 12S tasis 2) The clevared aikaitne Phosphatase level fs HikelYy due to Cho! $. leading to AOMMulasy In obstructive faundtce, bile Plow fs obstructed of bre Sats and bite autds in liver and bloodstream - THis actumulation can Test fn Mver cet Prfury and intrased SyNmsis of ALP, leading to elevated levels fm bibod - common cause For obstructive faundtee ts presence OF an obstruction ey Fr bhe duct whch can be due to - Go Stone, maitgnancy head ot Pancras, tumor, stricture of sphincter oPoddi- 4). Common bfte gaits Pneiude - Cholfe acid and chenodeonyiie acid. Bfie actds, which ave derivaties of btie Saits, Include Qiycochotic acid and taurochoife acfd - 5)- In obstructive faundfee there Ps blockage Po bhifary track Which prevents eturetfon of britrubfo into Intestine. Bfitrubin AccumuLares Pr bivodStream Gexcreted in urine a5 confugared biitrubin resuit?ng ( ahsene of Urobtitnogen , eswting in Qnstnu ut Urobfiinogen Pr urfne.DW. Sanghn's Nijalingappa Medical College and Hanagal Shree Kumareshwar Hospital and Research Centre, Bagalkot Department of Biochemistry Case Report - Minor ‘A3 month old boy was diagnosed with congenital cataract. Mother complains of repeated crying, lethargic and irritable. On examination yellow discoloration of ‘sclera, urine and hepatomegaly was noted. Lab investigations showed as follows: Test Reference range Blood ghicose 35 mg/dL 70-110 3. Bilirubin oF mgde 02-10 AST mgd 3-45 ALT 34mgdL Urine Benedicts test [++ “Mucic acid test ae Questions: . What is your probable diagnosis? What is the enzyme defect in this condition |. Write the biochemical basis for cataract in this condition. ‘What other investigations are performed in his case to confirm the disease?1. The probabie dfagnosts ts Faiactosemta a. ». The enzyme defectin GaractosemPa Ps typtcasuy 0. defectency Pr. Garactose- | phosphate Lridy! transPerase Lohich leads to accumulatton of galactose and Pts metaboities Pr body. This enzyme iS ySponsibie Por Conversion of Gouorrose }- Phosphate to giuvose - | phosphate. 3)- The BPochemnfcar basts for catarau formation tn Qalacrosemfa i¢ 4). accumulatton of garaccose & Pis metaboities, patrPaulariy Qaractitot Pr tens oF eye. Gatactose ts converted to galact?tol by aldose redurtase fn lens Cpouyor Pabtuway). Other Favesttgations Performed to conftrm diagnosis of Gatartosemta may fneiude- © Generic tetning to Faenti fy Mmuctotfons in Gener Ansocfated with Gouourose metaboitsm. Mednunemen Of Garastose level Tr biovd and urfne- Evaiuarfon of liver Functton tegh an Qouarresemia Con afteet Ifeer Functfon . » Nesbom ScreertPng feSt ,whed may detec elevoved teret oF Gaoxtose.Cr fis MetohoiPies Pa newbom.BA. Sangha’s $. Nijalingappa Medical College and Hanagal Shree Kumareshwar Hospital and Research Centre, Bagalkot Department of Biochemistry Case Report - Minor ‘A 59 year old male is brought to the emergency department by a family member with complaints of extreme confusion, disorientation and unsteady gait. The patient has been known in the past to be a heavy drinker. He has polished rice as a major component of his diet. On examination he is afebrile with normal blood pressure. He is extremely disoriented & agitated, Horizontal rapid eye movement on lateral gaze is noted bilaterally. His gait is very unsteady. Physical examination shows weight loss, decreased body mass index, and muscle wasting. There is no hepatomegaly or splenomegaly. CT head is negative for any tuinor/ injury. Questions: ‘What is the probable diagnosis? ‘What is the cause for above condition? Give the active form of the deficient factor responsible for the above condition. |. Write any two reactions where this factor is required.1) The probanie dfagnosts %s Wem«cke - Korsanorp Syndrome: 2. The cause of wemfciee - Korsakof— Syndrorne Ps thtarn?ne Cyftamta B19 defecienays often assocfated with chrontc attohoi’sm and Pradequate dtetary fhraKe- Potshed rice lacks thiamine, can Contribute te thiamine defediendg- 3). ActPre Form of dePectent Fator tesponsPbie for werntcke -Rorsakore Syndrome 7S thtamPne pyrophosphate Tp 7s artte Cofactor derived From thiamine thos fs required for Ranctfoning of severalenayme Fnvaived Pn Carbohydrate metaboiibm - 4 Reautfons where TPP iS required - Pyruvore dehydroqinam Corp —_——_4 Q)- Pyruvate Swap Acetyi oA, Tr Pte acd cycle Fer energy production . b). Ruy Step Pn TCA cyde ot Kehogiuborott denydrogenane X ketogiutarake —————3 Sucefnyt co Coenzyme - TPP-UV.Y Bane S. Nijatingappa Medical College and Ian hree Kumareshwar Meapital and Mevearch Cent alka . Department of UlochemIstry Case Repo Mino 7.430 sear old man, a strict vegetarian who does nol consume even dairy products visited the Hospital with complaints of weakness, pallor, lass of sensation in the extremities and mental confusion. On investigating = Tend! Hemogh Peripheral blood smear showed large, abnormal and immature RBC's Large emounts of methylmalonic acid were Uetected in his urine samples. [~ Questions: 1, Whatis the probable diagnosis? 2 _Name the biochemical molecule deficient in the ahve condition. 3._Mention the sources and RDA of this biochemical molecule, iomolecule as co-enzyme. 4. Mention the 2 biochemical reactions catalyzed by i 5. How do you manage the above condition?ap} a a 4. The probante dfagnosts fs vftamto Br dekcienuy aso Roun Os pemteious antinia. altomegasobrastfe anemnfa Giyerne Serene By serPhe i . Pup. NsNiochaFiy Hy 4: The bfochemPcai basts for mPcrocytte hypochromPe antmPa wth wramfn B86 defectenuy is - a VPt Be fs eSsentfor for heme Syntnesis SpectReany fn converston. of d-amfnorvuinte otf CALA> to Porphobfiinogen by ALA Syntnane - by VPt Be Gefectency can lead to Pmpofred heme syntnesis yeSultfng Pm Cetreaned Produkien oF Hb & Subsequently mifcrouytc hypochromPc Rec. Ove Be defedency can Pnatrectiy ated: Fron metabolism .A.27 year male was admitted to hospital with history of severe vomiting. He revealed self medication for indigestion, He was dehydrated and shallow respiration. Test Result Normal range [AT hae Gala e ao 5745 | pCO? 46 mmol Hy 35-45 | [ue 30 nm. 40-45 a | Scrum bicarbonate 40° mmol/L. 22-26 | Serum sodium 141 mmol/L 135-145 Serum potassium 3.3. mmol/L. 35-5 Serum chloride 84 mmol/L 95-105 Questions: 1. What is the acid-base status in this case? What is the biochemical basis for this condition? List the other causes for this type of acid-base disorders, What is the cause for decreased chloride levels in this case? zen Scarined by CamScanner\D. The acfd bane -Status fn this cane fs - metaboite auwasoses >. The blochemtcar bats for metaboile arKalos’s fnvoives an Prerease fn 3. uw. Stmum bfearbonate leveis, leadtng to an elevated px. THIS coud be due to excessive 1085 of hydrogen fon or excesstve OXcurnuarfon of Brcarbonate fons Other causes for Metaboife alkalosts Pnciude prolonged vornitfng, extesche use of cturetics, excessPe Prtake of alkoll Subsrances » ‘and certafn endocrine disorders dike hyptraldostervnism The decrease fm chloride jever tn ts cane fs fs Aikely due to Qoss of gate Aufd though vorntettny Gantre ftufd contains a high concentration of Hei which Ps composed of Chivrideions ca“) “Ihertfere excessive vomiting can lead to depletton of chiorfde fon fn body, resuiting fr dettased Serum ctuortde level. Thts 4oss of chioride contributes to devetopment & matnienance of metaboifc Gikalosts -5. Aclimber is coming down from the summit of Mt. Everest at an altitude of 8,000 mis. The blood gas analysis reveals, [Test Result Normal range pH 7.55 7.35 -7.45 peo? 12 mm of Ig 35-45 ie | poz 39 mm of i Serum bicarbonate L Questions: 1. What is the acid-base status in this case? 2. What is the biochemical basis for this condition? 3. List the other causes for this type of acid-base disorders. 4, Write the indication for arterial gas analysis? Scanned by CamScar 2a) 2 3) 4). Te acfd- base status fn ths case-% reSpfrarory aiKatos?s. The bfochemfcat bass fer 7esp¥ratory Alkaiosrs Prvoives decrease fn partfor pressure Of carbon dfoxfde Cpeoa in bioods leadfng to Pncreane fn pri «In this Stenarfo, dow peor fndtcates hyperventfiatfon whlch results Pn excessive eifrn?nasi on OF C02 From body. other causes for TespPratory Qiaiws?s Pntluds anxfesy high quttbude exposure, Fever, Salvoylane: Petsontng & mechantcat ventfiatton sft eucessfre tYdat volurne- Prrterfas gas anatysts ts Frdfeoted to assess the acd - base Status and oxygenation of blood tm Patients wth wspivarory or metabvife Gteerder disorder, resptratory distressor to monftoy response to treatment fn erfticaly Pil pakients7 UNV, Sangha’s: §, Nijalingappa Medical College and Hanagal Shree Kumareshwar Hospital and Research Centre, Bagalkot . Department of Biochemistry Case Repo nor 5. A3 year old child was brought to hospital with complaints of bow protruding forehead, pigeon chest deformity and poor growth of the child, Lab investigations revealed: Result Reference range Vitamin D “:<10ngiml 10-30ng/ml Serum calcium 274 mg/dl 9-11 mg% Scrum phosphorous = / | : 2.2 mg/dl 2.5-4.5mg% Serum ALP 2505 IU/L 70-140U/1 Questions: 1 1. What is your probable diignosis? 2. Which biomolecule is deficiént in this disorder? 3. Write the RDA of the biomolecule in children. 4. Mention the functions of the concemed biomolecule. 5. Mention three different types of this disorder. z 5 :1). The probubte dfagnosts bared on cttntcat hfsrory and fob Finding Ts wereets >. The bfomoieuie defedent in this disorder ig vitarntn D- 3) Retormmended| afetary auowance of viromfn D Infants C0-ta months) ~ Yoo Lu/day Chrdher C1-18 Ywons) 600 2U/day. 4)- Functfons of vframfnD Faciude - + Facititasing absorption of catctum & phosphorus from inkestine * promoting bone minerouisosion and gtowth- © Reguiating caleiurn ond phosphorus ewes in biood- Tine dffrevent types OF RfoH - lg Nudrfefonal pgcteut - Cauned by dekerendy in dickary vitamfn D, calcium . an innented alsor der wemntc woken - Coused by 5 abilihy tortabserb PROSPRanis . Hypophosph abedking Kiang Renal rues - caused by Kedney iisordley dreading te impaired autivorin of vitarnin D -1, A.2 year old child presented with chronic cough and bronchitis 2 year old child presented with chronic cough and bronchitis, growth failure and passage of light coloured foul smelling stools. Mother of the child reported that the child was finding it difficult to locate things in the dim light and during night time. Ocular examination of left eye revealed comeal epithelium ulcerated. Questions: 1. What is your probable diagnosis? 2. Which bio-molecule is deficient in this disorder? 3. 4 Write the RDA of the bio-molecule. How this disease can be treated.1). Probable atagnost's fs vftarnfa =A dleReoteney, . ap. Retinol ts the blornoleaute Which TS defectent ?n thls disordyrr. utrement of vttamin for adutts fr forn of retfnol “f 0 ug of B-carotene). Tr rnay be yudls O-amg of retinol + 3). Req arvund sop ugiday Cor 480) noted that one Tntemattonar unl €q) The requirement freveases fr pregnant women and iacantny Mothers - nA defecteny can be treared by tneeasing uch as ifvers Fish oft» datry products, 4). vPtamf Pntoxe of food Teh fn vPtamfn AS amin A Supplements May be eggeyoik » In Severe cones vet pusoribed-2A 12 years old male brought to Ophthalmology department with mother, with a complaint of gradual painless diminution of + She also gives the history of his food habit, that he eats junk foods rather than green leafy vegetables and fruits, He alvo had defective night vision for the last few months. On examination, a milky white patches seen on the right eye. Questions: 1, What is your probable diagnosis? 2, Which bio-molecule is deficient in this disorder? 3. 4, How this disease can be treated. Mention the Biochemical functions of this bio-molecule.4) The probanie diag 4) _ The bfornoiecure defecient fn npets fs vfkamPn A clefeccency leading to Xerepthainta. Wutth Symptoms fnciuding N¥ght bifrdness and mfiiay wh te parches fon eye Cattot’s Spot) - th?s disorder is vitamin A. Vreomtn A plays aerucfor Toe Pr viston Caa acomponenr of Thodops?n Pn vettna) sfnmune Fanctfon , cell grown ond difterentfatton ad weil OS mafntafntng the Pokatry of eptrneitaL tissue. Treakment byptcoity Prvowves suppiementaston with vtamPn AY efner oraiy or through Mrjettons eng with dfetany changes to fnetude more sources of veramfn A Suen as green leafy vegetonies | frufts and fortified feods-year-old male presented with a complaint of gradual onset, ive night blindness over the past six months. He had given up ‘ause he could not see the lane markers on the road. All forms I light seemed dim; however, daytime vision seemed perfectly normal. Prior to the onset of these symptoms, he had never had any ocular problems. He had no difficulty distinguishing colors. Questions: 1. What is your probable diagnosis? 2. Which bio-molecule is deficient in this disorder? 3. Write the cycle related to this bio-molecule. 4. Mention the Biochemical functions of this bio-molecule. 5. How this disease can be treated.2). The probanie dfagnosts fs vitamfn=A clefectenay specitfea presenting a5 night bifndness « , 2) The bromorecuie deRetent fh thts dtsorder % retinol, which Ps Form of vftamin-A- ao. cycle Telabed to Tetfno! ts visual cyte also KNOWN da ‘Thodopsin yee | which fs cructal Por viston Pn low light condttron- a Rhodopsin Ugne Cu efg-Tetfnal -opste ephoton) Nerve trmpusse opsfn Ratinod pale? Al tans “retinal aa- cts-retnole—aae NADH HT Aono! nnonsnt ee Naot | derudroaume NAD" Aeon: ‘aa- cis retinol eA ANI trans -retfnol (liver) waid?s visual cycle — uj. Bfochemtcor Funcefons of ftamtn-A aumose Itke Sterofd hormones ap Retinoic acid Aanctfons 4s0 mafntafn healthy eptrnutar ttssuc bp vitamin A ts essential cy Retfnat creams Are used to treak acne, Prevent wrfnkies & stgns of aging al, reproduson - ential Aor mafntenance dp Retfnot ts necessary Ferner: e)-vitamin A 1S constdered to be €8s of proper fmmune Sysrem- 5). Vitamin A defecfenay can be treated by fntreasfng frntaxe of foods vfch fn vitamin A Such ag ter, Fish ofi, dairy produuts , eggs. vegerabies vitamin A Supplements can aso be qiverr.2. A.9 months old child brought to pediatric OPD in an irritable state. The mother said that the child was breast fed only 6 months and now the child is getting only formula milk. Examination findings showed reduced weight, reduced skinfold thickness, reduced arm muscle circumference. Lab investigations revealed: Normal range Blood glucose : 70 mg/dl 70-110 Serum Albumin e 2.3 idl 3.55.5 Urea 10 mg/dl 15-45 Creatinine : 0.4 mg/dl og-14 Serum electrolytes: Na’ i 131 mEq/L 135-150 K 3.2 mEq/L 35-5 cr z 92 mEq/L 95-105 Questions: 1. What is the probable diagnosis? 2. What is the cause for the underlying disorder? 3. What is the treatment of choice? 4, Write the composition of ORS.29 The probanie dPagnosy ts marasmus .a form of Severe mainutttfon charauersed by energy defectenuy © suiting fa Sfgnfhrcant welght toss , Wdkiced MUsCIE MASS The underiyfng disorder Ps Pradequare nusftfonat intoxe Speetftcay a defecincy Pr both Calorie and Protein. In thts cane CHGS exciusive breastRedfng for omy & months followed by Formuto.mPik may not have provided sufHefent nusritfon to Suppor Qrowth and development. 2 The treatment of chofte for marasmus frvolves graduor refecaing Ufth nubitfonaiy boranced ates , tyPfeany Starting with confuy degestfbte Foods and Slowly progressing to higher carorfe and protefn Pntake. 4) Oral rehydratfon Solutfon composftton typfealiy Pretudes~ Guucose- 13-5q-/dE Sodium chiorfae- 2-6q/16 Potanstum chiorfde - 1-5 9-/te Trfsodfum Crake denydraie- 2.94 /te Totat wefght- 20-5 gistPEM 1. A 18 month girl from low socio-economic income family admitted to pediatric ward. Mother with complaints child had been eating poorly since few days. On examination child was underweight, weak, drowsy and pale. His hair was dry and brittle, distended abdomen, enlarged liver, generalized edema and angular stomatitis. Personal history: Staple diet of the family was starchy gruel rich in carbohydrate and low in protein. Lab investigations Blood report ' Normal range Hemoglobin a 8 g/dl 10-14 Serum total protein 2! 4.5 g/dl 6-8 Serum albumin : 18 g/dl 3.5-5.5 Questions: 1. What is your probable diagnosis? 2. What is the cause for edema? 3. Write the WHO classification of PEM? 31). The probabie dtagnosts Ps protePn energy matnutrfifon Spray Kwashforkar type, due to combfnatfon uf poor deetary tntakt , low serum Prorefn level & char osterts tte Cifntcot Finding Sun ab Generaused edenva- )- The couse for edema. Pn thfs care Po hypocibumtounio., which results From Pnadequate protefn Pntaxe. Serum oubumfn fs 7esponsfbie for magntaintng oncotte pressure Pn biovd vesserS Awhen its levtls are tow, Aud reas our Prato Interstittar Spas: caustng edema. 3) WHO closstffcarton fof Pem- Y. Body weight cornpared to Std. weight dlefectenay to wetght For hetghe Types of PEM Eden. Undertwerght chi.2. A.30 year old female comes to medicine OPD with complaints of generalized weakness, ability to work more and swelling of hands and feet. She also complaints of intolerance to cold and rapid weight gain and feel lethargie at the end of the day. Lab investigations Investigations Result ‘Normal range Ts O04 git ~, [O5-1A neil Ts 1.86 mg/dl 5.6-12.5 mg/dl TSH 35 yluyml : 035-5 lU/ml Total cholesterol 320 mg/dl <200 mg/d Questions: 1. What is the clinical disorder based on clinical history and lab findings? 2. Which mineral deficiency leads to this? 3. Which amino acid is required for synthesis of thyroid hormone? 4, Normal value of TSH. 5. Which cholesterol is increased?w QD. + Based on cifafcar history And tan Findings the ciintcar diserdey $5 hypothyrotdlsm The mfnerat defectenyy thar con lead E> hypothyrotaltsr ts Podine deReienty as fodfne fs essentfaL for synthesis of thyrofd hormones. The amino actd required fer Syntnes?s of tHuyrofd hormone fs tyrosine. The norma votue of TSH is typPeaity Pr he Tange Of 0-35-5.0 4 ru/mL. The cholestrol that fs Pocreased % total cholestrol , which ty Elevated above the normatrvange of 4 2oomg/dt1. A28 yrold female came to medicine OPD with complaints of emotional instability, heat intolerance, fine tremors, She also c/o weight loss despite nervousness, perspiration =Pulse : 100/min of good appetite, tachycardia and palpitations. On examinat Lab investigations ~ Test Result Normal range Ts 11.56 0,891.28 ng/ml Ts 28.64 5.9 = 12.10 g/dl TSH <0.05 0,35 -5.5 IU/ml Questions - 1, Interpret the lab findings and mention the clinical disorder. 2. What are the causes for this disorder? 3, What is Grave's diseast1). The tab Frndtngs fndtcare evevared teveis of T3 and Ty hormones ONG With Suppressed levers OF TSH. Ths pattern Suggests hyper thy rotdtsm. Ay. Causes of hyperthyrofdfsn can Pnciude Graves dfsease, Ehyrefd Noduies, thyrofdtHs , excessve Fodine Pntaxe oT overuse of thyrofdl hormone mealfcatfons - Graves disease ts an aurtofmmune disorder Where the fmmune System mistakeniy attacks thytafd giand , leadfng +o Overprodunion OF thy wid hormone «This causes hyperthytefdism and can TeSUst Pr Symptoms Such as WeFght loSs, Nervousness, heat Fotoierance and paipPrattons.RENAL FAILURE; A 60 year old male was admitted to the casualty with the complaints of vomiting, pain in the lower back, blurring of vision and disorientation. On evaluation, patient has decreased urine output. Laboratory data revealed: Parameter Result Blood Urea 160 mg/dl Serum Creatinine 4.9 mg/dl Serum Uric acid 8.8 mg/dl Serum Potassium 6.3 mEq/L Serum Inorganic Phosphorus 6.2 mg/dl QUESTIONS 1, What is the Probable Diagnosis? 2. What is GFR? Normal values of GFR 3. What is the test need to measure GFR. 4. What is the normal serum creatinine level?‘by. The probapie cifagnosts Ps Renot Fobiure GFR Stands for Giommenuar ftitratfon vate, fs the total amount of giomenias piasma ffitered by O11 the gio ure ovb of totot plasma Comeng to Kidneys a menus together per tent mfn Normal GFR for young adults ty 120-130 mi feta / 1-73 5G GFR ts constant fn a normal Pndfvtauos but may vary among people With Normal Kidney Plunutfon - 3). The test needed t measure GFR fs Clearance test Esttrnared GFR 4) Normal Serum Creatinfne level 0-5-1-2mgideNEPHROTIC SYNDROME: A 10 year old boy was admitted to the paediatrics ward with facial puffiness and swelling over the dorsum of the foot. He also had distension of abdomen, Past history revealed that he was treated for fever about 6 weeks back. Biochemical investigations done on the patient is as follows: Parameter Result Serum Total Protein 4.0 g/dl Serum Albumin 2.2 g/dl Blood Urea 25 mg/dl Serum Creatinine 0.9 mg/dl Serum Total Cholesterol 456 mg/dl 24 hours Urine Protein 4 g/day QUESTIONS 1. What is the Probable Diagnosis? 2. Give the biochemical basis for pedal Edema. 3. Key findings in the Electrophoretic pattern. 4, Name the test used to detect proteins in urine: 5. Normal Values of- Serum Total Protein, Serum Albumin, Blood Urea, Serum Creatinine.4). The probabie difagnosts fs nephrotfe syndrome . Pedou edema fn nephrotic Syndrome 's primariy due to hypootbuminernta, deerease fr plasma. oncotfe Pressure « a0- which Heads to meduced oncotte PreSSUTe th Interstitial Space ithe Feet Low tevel of aibumnin yesuits tn to retention of waseT orttouarty fF dependent Oreos which leads causfng sweutng Pp wesuiting fn fnterstitial edema - to Preveased GFR. Barnage to 1 of aibumntn due of.anfonte charges prane ‘YeSUlts Fo loss Low level ig basement men! hence aibumin g urine. ers exeatted fr eneve %5 stgntftcant clecrease FO 3)- In electrophoretfe pattern: acragiobuitn & serum aibumta tevet and anifcrease fa fa ™ P-giopuitn due to compensarory mechantsm « uy. Tne test used T detect protein inurfne bb surphosasioy ite ackd ep. Hewers bese dp ernanol /actone prectpfraston : Norma vouUes ~ Serum torarproeetn” 5-8.gide 3.6 -S-5 Gide Ss) Serum abumtn - Bivod uta” IS“ 4S mgide serum creartntne - 0-5 ~ amg/deWV V Sonar §, Nijalingappa Medical College and Hanayal Shree Kum: Rese Hagualkot Depart ate, Patient 13.41 year diabetic patient brought to emergency department in unconscious +t ularly. On examination attainders mention no control on diet and not taken medicines 1 blood pressure was normal, tachypneic and his breath was fruity odor. Test 4 Blood glucose 450 mygdl_ 70-110 | : Blood urea 80 me/dl 15-45 | Serum creatinine 2.5 mga 08-15 Glycated hemoglobin 103% <6% pH 72 735-745, , | Serum bicarbonate 15 mmol ‘| 22-26 "Serum sodium 134 mmo | 135-145 ‘Serum potassium 58 mmol — [35-5 Serum chloride 93s mmol/l. | 95-105 Urine analysis ad | Urine glucose Positive negative Urine ketonebodies positive negative Questions: What is the acid-base status in this case? 2. What is the biochemical basis for this condition? 3, Name the ketone bodies? Why urine ketone bodies are high? 4, What is anion gap? How will you calculate? 5. Mention other causes, Scanned b CamScanner me 7ay a: 3). a: D “The acfa-base Status fn this case 5 metabpvitc aridos ts Bfochemtcal basts for metatoifc ackdoss Pr thts cone,*s Wratsg Gfabetfe Ketoucdosts 1a compitcatfon of uncontroiied diaberes characterised bby high giutose level , Increased prodution of ketone bodfes and metaboife arfdosts . ketone bodies are acetpacetote, beta-~hydroxybutyrate and atetone Unfne ketone bodtes cre hfgh fo this case due to Preveased productton of ketones fr response to Pnsuitn defecienay and Subsequent metanoifc derangement Pr°Bntroved dfaberes teadlng to ketonusta- Anton gap fs calcuated value taped to assess the presence of unmeasured anfons fn blood ;which can Pndicate metaboite acidosis The formusa fs - Anton gap = Csodtum — Cchrtde + Bfcarbenate] J Normai range fer anton gap fs typicauy 8-1a mEG/ tL other causes of metaboitc actdests Pnciude Tenol Fafure, lace actdosts , Ingestton of toxin sush as methanolsr ethylene glycol , severe diarrhoea and Starvation -ce gappa Medical © Research Censrz. £ Department of Binoche: 15.4 21 year boy was brous was found on the street was 100.86 mm of He. pulse was 74 per + were dilted and fixed. Respitaton system. contin rormal. CT brain showed genarlised edema. [pH 32 mmof Hi | pCO2 | poz [98 mmet is Serum bicarbonate | 12. mmol L. Serum sodium | 134 mmol L | Serom psassiom | 3 mmollL Serum chloride [1% mmol/L | Blood urea | 27 meld. 1 ASS ‘Serum creatinine {12 mgidt Ora TBloodmethanol -/OAmedL Blood methanol | OA mgt. Questions: 1. What is the acid-base status in this case? 2. What is the biochemical basis for this condition? 3. Write the compensatory mechanism of regulation of blood pH. ned by CamScanner ba1). The a@ctd-bose Status fo this care fs metaboife autdoshy a9. The btochemfcal basts for metabolite acidosts fn tn’s conefs sree decrease fn Serum bicarbonate levels , leading to a decane fn pr “Inés could be due to vorrfous foutors Suth aS meraboiPe acidosts resulting from methanol frfestfon which can lead tp production of formic afd and other acid metaboiftes- pdattfonaiuy presence oP fnfarctfon fr basa gangifo. regfon may conttbute to retaboite acfdosts due to tissue hypowto & lactic cukdosts. 3)- Compensatory mechantsm of requiation of blood pH Fnvoives vesptrozony System compensating Por metobol?e akdos?s by Prereasfng ventPiatfon ,eading to decrease Pn amterfal Pros o In this cant Pooa PS decreased , Pndtcating resptratory compensaxton for metabolite acidests - Kedneysaiso Play acrole th compensating, for metanoife acide Sts by excreting Hydrogen fons and yetakning bicarbonate. fon:DW: Samir’ S. Nijalingappa Medical College and Hanngal Shree Kumareshywar Hospital and earch Centre, Bagalkot . inerease in the frequency andl purulence of sputum production over the fast few days. His gen saturation Was 78%, Before he was placed on supplemental oxygen. arterial blood gas analysis was done and reveals as follows Test Result Normal ge pHi 725 735-745 pco2 68 mmoflg | 35-45 po2 78 mm of Hg | 90-100 Serum bicarbonate 23° mmol/l. Questions: 1 What is the acid-base status in this case? What is the biochemical basis for this condition? List the other causes for this type of acid-base disorders. 4, What is the compensation in this case? Scanned by CamScar, ar .D The actdl- base Starus to thfs Case 75 Tespfratory axtctosts ). Bfochemfcar bants For resphratory acidosts tn this cane fs an Trerease fr carbon cfortde teveis fn blood. dust to Fmpakred gar exchange fn lungs wshich Ps charauteristic oF Severe Chronfe obstructive Putrmonary d’seane Ccorp) .ThPs leads to ecreane Pn PH as Coa aus with woker to form ca-rbonfc oxkel resuatfng in ‘resptratory actdasis . 3) Other causes For Tespfrasory atidusts Frciude ausre or chronfe tung dfseages Such as pneamonfa, astnma, Pulmonary edema, resptrakory muscle Wwealness ; afrway obStruchfon - 4). The compensatfon fn this cone fs renal compensarfon, which Favolves the KEdney fneveastng theercretfon oF bicarbonate Fon to help normaiise pn - In resptrotory ackdosts , the Kédlneys attempt to retafn Hydrogen fon and excrebe more bfcarbonate fons to mafntafn acid-base balance. In th’s cane, Serum bicarbonate level Fs sifgntly decreased C23 mmoi/c) compared to normals Tange ©22-26 mmol/L) Indfcatfng TendL compensatfon, for resprrazory ackdosCase Based Learning (CBL) Date Topic Signature of student Signature of Facult aplul23, Tron defectency Anemfa. | ey Seoovel ashulas Saovy, 2qlulaa Phystotogtcat Toundtce whata3 £ Giycogen storage aisease Tepe: ae tvon Girke discare) 2alntes Hemoty tte Jaundice allay ‘Hepatic Joundtce Whrlag, Post hepatte Taundie igli2ta3, Gaiackosemfa, 2elial3| Bew - Ber? 2¥liatag vitamtn Bia detectenay ray Penagra. talsioy VPtarntn Ge defectency asl ay metaboife alkalosts relay 25|ilay | Respfratory cuKarosts Rockets -Case Based Learning (CBL) SI} Date No Topic Signature | Signature of student | of. Faculty 16 |etaiay, Vtartin F detectency sono? 17 Jistateu Moarasmus sean 18 ststay Kwashforkar sane? 19 |starey Hypothyrotaiism sepo-4) 20 | sctatay Hyper thyrtaism sepoed 21 | atetay Renat Fatiure 22 |astaay Nephrotte syndrome ulaloy Metaboife Addosts alatay, Resptratory Acidosis . 23 24 25 26 | 27 28 29 30