QUESTIONS: 1. Which metabolic disorder of carbohydrate metabolism causes juvenile cataract ? 2. What is the enzyme defect in this condition? 3. What is the metabolic intermediate that causes cataract? 4. Which are other organs affected in this condition? 5. What would be blood & urinary findings in this condition? CHARTS-1 ( Galactosemia )
QUESTIONS : 1. Identify the aminoacid metabolic disorder and the enzyme defect? 2. How the alkaptone bodies are synthesized? 3. What is ochronosis ? 4. Mention the inborn errors in Garrod’s tetrad. 5. Write the lab investigations for this disorder. CHART-2 ( Alkaptonuria )
QUESTIONS: 1. Identify the displayed condition and mention the cause. 2. Mention the clinical manifestation of the above condition. 3. Write the RDA & sources for this vitamin. 4. Write the synthesis of the active form of the vitamin. 5. What is the biochemical role of this vitamin? CHART-3 ( Rickets )
CHART-4 - Gout Aspirate from that area, under polarized light microscope showed crystals. Questions What is your diagnosis? What is the chemical nature of the crystal? Mention four causes for this condition. Why the peripheral joints are involved? How will you manage this case? Normal level of this compound
QUESTIONS: Identify the disease and the biochemical defect in the RBC. What is the molecular basis of this disease? How will you confirm this disease? What are the different types of this disease? What are the complications of this disease? CHART-5 ( Sickle cell anemia )
A 56-year old female consulted her general practitioner for weight gain and tiredness. Her thyroid function test results are as follows: CHART-6 ( Hypothyroidism-1 ) QUESTIONS: 1. Based on the above findings give your probable diagnosis with suitable explanation. 2. Name any two causes for hypothyroidism. 3. What is sick euthyroid ? 4. What are the other associated parameters that are required for confirmation of the diagnosis? 5. How will you differentiate primary and secondary hypothyroidism? Plasma TSH 54.6 mU /l (0.20-5.0) Free T4 5.7pmol/l (12-25)
6 . HYPOTHYROIDISM-2 A 56 year old female consulted her general practitioner for weight gain, tiredness, intolerance to cold, constipation, dry skin and coarseness of voice. Her thyroid function test results are as follows: Plasma TSH - 54.6 µU/mL , Free T4 - 5.7pmol/L (12-25) Questions: 1. What is your diagnosis? What is the normal level of TSH? 2. Name any two causes for the above condition. 3. Explain Sick euthyroid ? 4. How will you differentiate primary and secondary hypothyroidism? 5.What is cretinism?
7. HYPERTHYROIDISM A 36 yr old female presented with the history of palpitation and loss of weight. Her thyroid function report is given below: Serum TSH: 0.01 µU/mL (ref range:0.3-4.5 µU/mL) Serum T4 : 80 µ gm /mL (ref range: 5-15 µ gm /mL) Serum T3: 282ng/ dL (ref range: 80-220ng/ dL ) Questions: 1. Based on the above findings give your probable diagnosis with suitable explanation. 2. Name any two causes for hyperthyroidism.. 3. What is goiter? 4. Name the other lab investigation that can be done in this case.
A 4-year old male child presented to the pediatric OPD with puffiness of the face and history of oliguria by the mother. His laboratory investigations are as follows: QUESTIONS: 1. Based on the history and laboratory findings give your probable diagnosis with suitable explanation. 2. Explain why serum cholesterol level is increased in the above child. 3. What is normal A/G ratio? How is it in this case? 4. What is the reason for puffiness of face? 5. What will be the serum protein electrophoretic pattern in the above patient? CHART-8 ( Nephrotic Syndrome ) Serum Urea 20 mg % Serum Total Protein 4.4 g % Serum Creatinine 0.7 mg % Serum Albumin 1.8 g % Serum T. Cholesterol 400 mg % 24-Hr. Urine Protein 4 g/day
An infant of 2-weeks was admitted with convulsions. The mother gave a H/O normal pregnancy & delivery. His mother had observed a peculiar mousy odour in the child’s urine. Lab findings in his blood & urine shows : Plasma Phenylalanine 1.8 mmol /L 0.09 mmol /L Urine Phenylalanine 4.8 mmol /L Trace Urine Phenylpyruvate 6.2 mmol /L Urine Phenyllactate 11.2 mmol /L CHART-9 ( Phenylketonuria ) QUESTIONS: 1. Identify the biochemical defect and comment on the lab findings. 2. Name any two screening tests that help in diagnosing this condition 3. Children affected by this condition often have very fair skin. Explain why? 4. Name any two neurotransmitters, the synthesis of which will be affected in this condition. 5. Which hormone’s synthesis will be affected in this condition?
A 24-year old student was brought to the emergency department in a comatose state. He did not respond to painful stimuli. His respiratory rate was 20/min. His plasma glucose was 435 mg/dL. His urine was positive for glucose and ketone bodies. CHART-10 ( Diabetic ketoacidosis ) QUESTIONS : 1. Based on the above lab findings, give your probable diagnosis. 2. Name the ketone bodies. 3. Explain the cause for his altered respiratory rate. 4. What is the etiology for this condition? 5. What will be his acid-base status? Explain why?
QUESTIONS: 1. Based on the above lab findings give your probable diagnosis with suitable explanation. 2. Name two other biochemical markers increased in the above clinical condition. 3. What do you mean by flipped LDH? What is its significance? 4. Calculate the LDL cholesterol level for the above patient. 5. Give the reference range for serum total cholesterol in a healthy adult. A 50-year old male was admitted to casualty with chest pain, profuse sweating and low BP. His lab findings are as follows : CK -MB 330 IU/L T. Cholesterol 345 mg/dl Cardiac Troponin-T Positive Triglycerides 280 mg/dl HDL cholesterol 26 mg/dl CHART-11 ( Myocardial Infarction )
Following were the biochemical findings of an icteric patient.Her bile salts and bile pigments were absent. CHART-12 ( Obstructive Jaundice ) QUESTIONS: 1. Give your possible diagnosis with suitable explanation 2. What will be the urinary findings in the above case? 3. In which type of jaundice bile salts and bile pigments will be absent in urine and explain why? 4. Write down the reference range for serum ALP in an healthy adult. Why is it increased in this case? 5. Name any two causes for obstructive jaundice. Serum T. B ilirubin 16 mg/dl ALT 450 IU/L Van den Berg’s reaction Direct positive AST 440 IU/L ALP 430 IU/L
13.HEMOLYTIC JAUNDICE A blood sample of a new born was received in the clinical biochemistry lab with the h/o mother’s blood group as A negative and her husband was Rh was positive. His blood examination results were as follows. Serum Total bilirubin ----------------------- 14 mg/ dL Serum Conjugated bilirubin ----------------- 1.5 mg/ dL Serum Unconjugated bilirubin---------------- 12.5 mg/ dL Van Den Bergh test – Indirect positive Questions 1. What type of jaundice is he suffering from and justify ? 2. Explain the biochemical basis for jaundice in the above child. 3. What is the important complication ? 4. What will be the urinary findings in the above patient?
14 .OBSTRUCTIVE JAUNDICE A 42 year old woman came with severe abdominal pain ( epigastric region) and jaundice for the past two days. Her blood investigations report is given below: Serum total bilirubin: 11.4 mg/ dL , Conjugated bilirubin- 10.3 mg/dl. Vandenberg’s reaction: direct positive Serum Enzymes : ALT : 68 IU/L AST : 74 IU/L ALP : 430 IU/L Questions: 1. Give your possible diagnosis with suitable explanation 2. What will be the urinary findings in the above case? 3. Mention the normal values of AST, ALT, ALP and serum total bilirubin? 4. Name four causes of the above condition.
15 . LACTOSE INTOLERANCE An infant was brought to hospital with diarrhea, abdominal discomfort & pain after ingestion of dairy products. On examination, the stool was positive for reducing sugar. Questions: 1. Based on the above findings, give your probable diagnosis. What is the defect? 2. Explain the reason for the symptoms. 3. What is the management of the case? 4. Name any two conditions when this sugar will be physiologically present in urine.
16. ACUTE MYOCARDIAL INFARCTION A 50 year old male was admitted to casualty with chest pain, profuse sweating and low BP. Investigations; CK MB ----------------330 IU/L. Troponin -T --------elevated. Total serum cholesterol ---275 mg/ dL HDL cholesterol -------25 mg/ dL Triglycerides----------250 mg/ dL Questions 1.) Based on the above lab findings give your probable diagnosis with suitable explanation 2.) Name two other biochemical markers increased in the above clinical condition 3.) Calculate the LDL cholesterol level in the above patient 4) Give the reference range for serum total cholesterol, HDL cholesterol, LDL cholesterol, triglycerides .
17.DIABETIC KETOACIDOSIS A 24 yr old student brought to the emergency department in a comatose state. He did not respond to painful stimuli. His respiratory rate was 24/min. His plasma glucose was 435 mg/dL. Urine Benedict’s test and Rothera’s test were positive. Questions: 1. What is the provisional diagnosis and justify? 2. What is the normal fasting plasma glucose and serum ketone bodies level? 3. What type of acid based balance will be in this patient? 4. What is the reason for increased respiratory rate?
18-CHART – 1 Normal OGTT Questions : 1. Comment on the OGTT graph with suitable explanation. 2. Name any 2 preparatory advice given to the patients before performing OGTT 3. What type and amount of glucose has to be given to the patient during OGTT ? 4. Mention any two indications for performing OGTT. 5. Mention the diagnostic criteria for diabetes mellitus. F 30 60 90 120 80 100 120 140 180 200 _ _ _ _ Bl.Sugar (Mg/dL) Time (Min) _ Glucose tolerance test
Questions a) Comment on the OGTT graph with suitable explanation b) What will be the expected biochemical defect of this condition? c) Name any 2 causes for renal glycosuria d) What is the normal renal threshold & Tm glucose ? e) Name the test for urine glucose. What are the interfering substances? 18-CHART – 2 F 30 60 90 120 80 100 120 140 180 200 240 Bl.Sugar (Mg/dL) Time (Min)
QUESTIONS: 1. Comment on the OGTT graph with suitable explanation. 2. What is the renal threshold of glucose? 3. Mention any 2 other causes of hyperglycemia 4. What is the significance of HbA1c and mention its normal value? 5. What are the clinical features of this condition? 18-CHART – 3
CHART- 19-DIABETES MILLITUS 19 . A 40 year old woman came to OPD of a hospital complaining of weakness & lethargy for the past 2-3 months. She also noticed that she felt very thirsty. In the night she gets up 4-5 times for urination. Following were the results of the investigations done FBS – 156mg% PPBS – 252mg% UREA – 36mg% HBA I C – 14% CHOLESTEROL – 270mg% Questions: What is your diagnosis? Why there is frequent urination? Comment on the HBA 1 C value What should be the target level of the blood sugar level to achieve a good diabetic control? Why cholesterol is high ?
CHART-20-Glycogen storage disease 20 . 5 year old girl child was brought to the hospital with distended abdomen. She had development delay, and was lethargic. Clinical examination revealed enlarged liver. Her lab reports showed hypoglycemia, increased Lactate and Uric acid. Questions: What is your diagnosis? Justify What is the enzyme defect in this condition? What is the reason for increased Uric acid What are the causes for neonatal hypoglycemia How will you treat this child
21. PHENYLKETONURIA An infant of 2 months old was admitted with convulsions. The mother gave the H/O normal pregnancy & normal delivery. She also had observed a peculiar mousy odor of child’s urine. Urine ferric chloride test showed the immediate appearance of greenish blue color . Plasma Phenylalanine 1.8mmol/L 0.09 mmol /L
21 . PHENYLKETONURIA Questions : 1. What is your diagnosis and mention the biochemical defect. 2. The children affected by the above condition often have very fair skin. Explain why?. 3. Name the neurotransmitters, the synthesis of which will be affected in the above condition. 4. Name the hormones, the synthesis of which will be affected in the above condition.
22- HEMOLYTIC JAUNDICE Questions : 1. What type of jaundice is he suffering from? 2. Explain the biochemical basis for jaundice in the above child. 3. What is kernicterus? 4. What will be the urinary findings in the above patient? 5. In which type of jaundice, will bile pigments be absent in urine? Explain why? A blood sample of a new born was received in the clinical biochemistry lab with the h/o mother’s blood group as A negative. His blood examination results were as follows. S. Total bilirubin ----------------------- 14 mg/ dL S. Conjugated bilirubin ----------------- 1.5 mg/ dL S. Unconjugated bilirubin---------------- 12.5 mg/ dL
QUESTIONS: 1.Give your possible diagnosis with suitable explanation. 2.What is the meaning of biphasic Vandenberg’s reaction? 3. What is De Ritis ratio? 4.What are the names of the tests done to identify urinary bile pigments &Urobilinogen? 5.Give the normal reference range for serum total bilirubin & Conjugated bilirubin 23- (HEPATIC JAUNDICE) Following were the biochemical findings of an icteric patient Serum total bilirubin : 6 mg/ dL Vandenberg’s reaction : biphasic Enzymes : Urine: ALT : 320 IU/L Bile salts : Positive AST : 340 IU/L Bile pigments : Positive ALP : 100 IU/L Urobilinogen : Positive
Questions 1. Give your possible diagnosis with suitable explanation 2. What will be the urinary findings in the above case? 3. What is conjugated bilirubin? Name one other condition where it is increased? 4.Write down the reference range for serum ALP in an healthy adult. Why is it increased in this case? 5. Name any two causes of this condition 24- (OBSTRUCTIVE JAUNDICE) Following were the biochemical findings of an icteric patient Serum total bilirubin: 16mg/dL Vandenberg’s reaction: direct positive Enzymes: ALT : 60 IU/L AST : 70 IU/L ALP : 430 IU/L