The document presents multiple clinical case scenarios involving pediatric and adult patients with various medical conditions, including nutritional deficiencies, metabolic disorders, and respiratory distress syndrome. Each case includes questions regarding diagnosis, treatment, and laboratory findings related to the conditions. The document emphasizes the importance of identifying deficiencies, understanding enzyme functions, and recognizing symptoms for effective management.
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The document presents multiple clinical case scenarios involving pediatric and adult patients with various medical conditions, including nutritional deficiencies, metabolic disorders, and respiratory distress syndrome. Each case includes questions regarding diagnosis, treatment, and laboratory findings related to the conditions. The document emphasizes the importance of identifying deficiencies, understanding enzyme functions, and recognizing symptoms for effective management.
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PPTX, PDF, TXT or read online on Scribd
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• 3 year old girl bought to OPD
having anorexia a.He is
lethargic and apathetic. Sparse ,soft and thin hair is seen.Generalised edema is present.Laboratory test results were as follows Hb-6gm %,total Protein 4gm% and Albumin 1.5gm%
a. What is your diagnosis?
b. What is deficient here? c.What is its treatment? d.How this can be prevented? e.What is seen in the skin of these patients? • A 24 year female who is strict vegeterian presents with tiredness ,weakness and numbness in extremities.Her laboratoery investigation show Hb -7.5gm% and peripheral smear shows megaloblastic cells with hypersegmentaed nuclei
• Which vitamin is defficienct here?
• Name one enzyme which needs this vitamin as Cofactor. • What is the active form of the vitamin? • What is the RDA of the viatmin? • What is its storage form •A 2 year old intellectually disabled child is having blue eyes, blonde hair and fair skin. He also have a mousy body odour. •What is the diagnosis? •Which enzyme is deficient here? .Which test is done to confirm the diagnosis? •What is synthesized by the deficient enzyme? •What is its treatment? A 2 year old boy presented with fasting hypoglycemia which is not correc,ted after epinephrine injection, hepatomegaly doll like facies and thin extremities. •1.What is the diagnosis? •2.why hypoglycemia is seen? •3. Which enzyme is deficient here? •4.what is the rate limiting enzyme for glycogenolysis? •5. why hyperuricemia is seen here? • A 7 year old boy with compulsive self mutilation ,intellectual disability. He is always strapped to bed. Serum uric acid is elevated/ • What is the diagnosis? • What is the enzyme deficient here? • What is the reaction catalyzed by the enzyme? • What is the normal level of uric acid ? • Why uric acid is increased here? Q-1 CASE HISTORY A 55yrs old man with long standing type2 DM presented with fever, delirium & low urine output. His blood urea level was 135mg% and urea clearance was 35ml/min. 1) What is the most likely diagnosis? 2) Define urea clearance? 3) What is the normal volume of urine/ day? 4) What is the test for reducing sugar in urine? 5) What other test you will do to assess renal function test? CASE HISTORY 1 • A 24 months old girl has failure to thrive and unusual gait. On examination, she has frontal bossing, bowing of legs and swelling of costochondral junctions. Lab results were: • serum calcium-8.2 mg/dl, • serum phosphorus-2.8mg/dl • serum alkaline phosphatase is 720 U/L. • Q1.What is the likely diagnosis ? • Q2.What is the function of the vitamin causing the disease ? • Q3.What is the the most active form of this vitamin? • Q4.what is the most common dietary source of this vitamin? • Q5.What is the corresponding condition called in adults? Case 1:
• A 50 year old woman was admitted to the
hospital because of very rapid heart rate, severe weakness, weight loss and exophthalmos. She was extremely irritable and couldn’t tolerate heat. 1. Which laboratory tests will be done for the diagnosis? 2. Write a condition leading to this disease? 3. What changes are seen in the values of blood sugar and cholesterol in this disease? 4. Write an autoimmune condition leading to this disease. 5. Which amino acid is required for the production of hormones related to this diseaese? Case 2: 1. Write the type of PEM shown in picture. 2. Write two preventions for PEM. 3. In which type of malnutrition Wt/Age < 60%? 4. Features of both wasting and edema seen in which type of PEM? 5. Flaky paint dermatitis seen in which type of PEM? Case Senario • Preterm neonate born to unbooked mother shows increased respiratory rate,chest wall retractions,cyanosis,pallor .His condition was progressively worsening and was put on oxygen. baby is grunting .X ray chest was showing ground glass appearance Questions related to case • 1.What is the cause of RDS in premature babies • 2.What is the major component of lung surfactant • 3.How to acess lung maturity antenatally • 4.What precaution to be taken antenatally to prevent RDS