31 st December 2014 Standardized Assessment of Skills in Chemical Pathology (Pilot Programme) Quick Assessment of Data Interpretation Skill (QADIS) with Key Instructions: Please answer the questions asked by the facilitator Feel free to clear your doubts

Patient No 1 A 60 year old male presented with weakness, weight loss and occasional fainting attack for two months. OGTT was performed which revealed: Time (min)Glucose (mmol/l) 0 hrs min min min min 3.8 a. What does this OGTT suggest? b. Suggest THREE causes of this OGTT a.Lag storage curve b.Severe liver disease, gastrectomy, reactive hypoglycemia

Patient No 2 A 19 year old girl with short neck, small lower jaw and low set ears is being evaluated for short stature. Her IQ is normal. She has history of persistent amenorrhea. Lab investigations revealed: Serum TSH 3.1 mIU/l Serum LH39 IU/l Serum FSH21 IU/l Serum Prolactin 415 mIU/l Serum Estrogen18 pmol/l( ) a. What is likely diagnosis? b. Name ONE investigation to confirm your diagnosis a.Primary hypogonadism due toTurner’s syndrome (45, X0) b.Cytogenetics (Karyotyping)

Patient No 3 A 38 years old female complains of Menstrual Irregularity. Her hormonal profile is as following (LMP not known): FSH: 19 mIU/mL LH: 14 mIU/mL Prolactin: 63 ng/ml (Upper Reference Value: 20 ng/ml) a. What is the most probable diagnosis? b. Name ONE hormone test you would like to carry out in this patient to find the cause of hyperprolactinaemia. a.Hyperprolactinemia b.TSH

Patient No 4 A 52 years female has following bone profile: Serum Calcium: 3.18 mmol/L ( )Serum Phosphorus: 1.59 mmol/L ( )Plasma PTH: 128 pg/L (15-62) a. Name TWO most probable causes which can lead to these biochemical finding? b. Name TWO most appropriate tests you will advise to differentiate these conditions? a.Primary hyperparathyroidism & tertiary hyperparathyroidism b.Serum Urea & Creatinine

Patient No 5 An 8 year old male child is being investigated for short stature (<3 rd percentile). His growth profile shows: IGF-1: Decreased IGF BP3: Decreased GH levels after exercise: Normal response a. What is the most probable diagnosis? b. Name ONE Haematological Disease which can cause these biochemical findings a. Growth hormone insensitivity b. Thalassaemia

Patient No 6 A 24 year old lady, with four months history of amenorrhoea, presented with anxiety, palpitations, excessive sweating and weight loss. Her laboratory investigations revealed: Serum total T4290 nmol/l(70-160) Serum total T3 9 nmol/l( ) Serum TSH 4 mIU/l ( ) a. What is your likely diagnosis b. Name TWO most important investigations for this patient a.Raised TBG causing symptoms of Hyperthyroidism b.FT4 and FT3

Patient No 7 A 28 years old male has got primary infertility. Biochemical analysis of his semen was carried out as part of the infertility investigations. It showed per ejaculate result as following: Acid Phosphatase: 230 U (Ref Value > 200) Fructose : 0.2 mmol (Ref Value > 13) Zinc: 2.7 mmol (Ref Value > 2.4) α Glucosidase: 25 mU (Ref Value > 20) a. What is the most probable diagnosis? b. Give ONE reason to support your diagnosis? a.Seminal vesical absence or defect b.Fructose is high in seminal vesicle fluid

Patient No 8 A two year old child was brought by his mother with irritability, weight loss and slow growth rate since birth. There is also history of seizures. On examination hepatomegaly, bruises and xanthomas are seen. His biochemical profile is as: Serum Triglycerides:5.2 mmol/l Serum Cholesterol:4.8 mmol/l Serum Uric acid: 605 umol/l Plasma Glucose:1.9 mmol/l Plasma lactate: 7.9 mmol/l(< 2.0) Plasma HCO3: 15 mmol/l a. What is diagnosis? b. Name the basic enzyme defect a.Glycogen storage disease –Type I von Gierke’s Disease b.Glucose 6 phosphatase deficiency

Patient No 9 A 17 years old female with inosmia and having Primary Amenorrhea: FSH: 0.9 mIU/mL LH: 1.3 mIU/mL Oestradiole: 27 pmol/L Progesterone: 0.23 ng/ml Inosmia: confirmed in ENT Department a. What is the most probable diagnosis in this patients? b. Name ONE lab investigation (non-biochemical) which can be helpful in this patient. a. Kallman Syndrome b. Cytogenetics (Karyotyping)

Patient No 10 A 34 year old female, suspected of a drug over dosage, presents with nausea, vomiting and abdominal pain. Her emergency lab tests result were as following: pH : (7.35 – 7.45) HCO3 : 17 mmol/L (23 – 28) PO2: 112 mmHg (80 – 110) PCO2: 33 mmHg (35-45) Na : 139 mmol/L (135–150) K : 4.5 mmol/L (3.5 – 5.0) Cl : 105 mmol/L (98-108) Urea : 6.9 mmol/L (3.3 – 6.6) ALT: 532 U/L (< 32) Serum Osmolality Gap: 1.8 mOsmol/L Urine Trinder Spot test: Negative a.What is the most likely class/drug used in this patient? b.What is the stage of drug toxicity this patient is suffering from? a. Paracetamol overdosage b. Stage II

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