15 May 2015 (FRIDAY) Quick Assessment of Data Interpretation Skill (QADIS) Instructions: Please read the scenario and data carefully and answer the questions given below each data. Time allocated for each patient is 2 minutes Structured Assessment of Skills in Chemical Pathology Lesson No 5

Authors of the QADIS (Lesson No 5) 1. Prof (Brig) Aamir Ijaz MBBS, MCPS, FCPS, FRCP (Edin), MCPS-HPE AFIP Rawalpindi 2. Col Naveed Asif MBBS, FCPS (Chem Path) AFIP Rawalpindi 3. Dr Lubna Sarfraz QAMC Bahawalpur

Patient no 1 A 47 years old male had cough, dyspnoea and mild chest pain. His radiological examination of chest revealed diffuse interstitial lung disease and bilateral hilar adenopathy. His laboratory findings were: Haemoglobin: 11.2 g/dl ESR: 31 mm at the end of first hour Calcium: 2.85 mmol/L (2.10 – 2.65) Phosphorus: 1.15 mmol/L ( ) ALP: 234 U/L (30 – 120) ACE: 178 U/L (8-53) a.What is the most probable diagnosis? b.Which metabolite of Vitamin D will be most helpful to confirm the diagnosis?

Patient no 2 A 4 month old male infant presented with irritability and failure to thrive. On examination, he was having tachycardia, dryness of mucus membranes and decreased skin turgor. His laboratory investigations revealed: Plasma Glucose4.6 mmol/L Serum creatinine30 umol/L(4-29) Serum Sodium121 mmol/L ( ) Serum Potassium6.0 mmol/L( ) Serum Bicarbonate15 mmol/L(22-28) Serum Chloride99 mmol/L(98-107) Serum 17OH progesterone2.2 nmol/L( ) Serum Cortisol575 nmol/L(80-580) Plasma Aldosterone56 pmol/L( ) a.What is the most probable diagnosis? b.Name the most probable biochemical defect

Patient no 3 A 56 years old male has abdominal pain and mild jaundice. His biochemical profile shows: Albumin: 45 g/L (35-50) ALP: 180 U/L (30-120) Gamma GT: 788 U/L (<40) ALT: 104 U/L (<42) AST: 248 U/L (< 35) Bilirubin: 36 μ mol (<17) a.What is the most probable diagnosis? b.Name the ratio of two enzymes which can be helpful to support your diagnosis.

Patient no 4 A 1 month old infant has a highly chylous sample. Her lipid profile is as following: Cholesterol : 3.4 mmol/L Triglycerides : 22.1 mmol/L LDL Chol (measured): 1.34 mmol/L HDL Chol (measured): 1.1 mmo/L Overnight incubation of serum sample at 4 0 C shows a ring on the top of a clear sample a.What is the most probable diagnosis? b.Which type of hyperlipidaemia this infant is suffering from as per Frederickson Classification.

Patient no 5 A 1 month old infant has a highly chylous sample. Her lipid profile is as following: Cholesterol : 3.4 mmol/L Triglycerides : 22.1 mmol/L LDL Chol (measured): 1.34 mmol/L HDL Chol (measured): 1.1 mmo/L Overnight incubation of serum sample at 4 0 C shows a ring on the top of a clear sample a.What is the most probable diagnosis? b.Which type of hyperlipidaemia this infant is suffering from as per Frederickson Classification.

Patient no 6 A 21 years old male was diagnosed to be a case of Addison`s Disease on the basis of clinical features and laboratory findings (i.e. low cortisol and increased ACTH). He is on replacement therapy and clinically much improved but his recent hormonal profile indicates: Cortisol : < 5 nmol/L ACTH: 87 pg/ml < 120 a.What is the most probable cause of this discrepancy (analytical error excluded)? b.What advice you will like to give to the treating physician?.

Patient no 7 A 10 years old boy, who is a known patient of Type 1 Diabetes Mellitus, is admitted in an Intensive Care Unit in semi-conscious state. His biochemical picture shows: Plasma Glucose15.6 mmol/L pH : 7.21 ( ) Na : 140mmol/L ( ) K : 6.2mmol/L ( ) Cl : 100mmol/L (98-106) HCO3 : 13.8mmol/L (22-28) Anion Gap: 26 Serum Ketone (By Nitroprusside test): Negative a.Why nitroprusside test is negative in this patient in spite of evidence of Diabetic Ketoacidosis (DKA)? b.Name the biochemical tets which can be more useful in this patient to diagnose DKA.

Patient no 8 A 32 months old years boy is been investigated for short stature. He was born prematurely at about 30 th weeks' gestation. At birth, he was very small (1.7 kg) and measured 14 inches in length. His growth is fully formed and proportional except some microcephaly. On examination he was found to be < 1 st percentile in height and weight. All his routine biochemical, endocrine and immunological tests were normal. He underwent growth studies which revealed:  IgF1: Normal for age and sex  IgFBP3: Normal for age and sex  Growth Hormone (Basal): 4 ng/ml  Growth Hormone (after Insulin Stimulation Test): Normal response a.What is the most probable diagnosis in this patient? b.Is the ‘Growth Velocity’ low in such patients?

Patient no 9 A 55 years old female is being investigated for Cushing Syndrome. She has following lab results: Serum Cortisol in overnight 1 mg dexamethasone suppression test: 35 nmol/L (Normal Cut-off value: <50 nmol/L) Urine free cortisol: 230 nmol/day (ref range: 27 to 150) a. Write TWO causes of this discrepancy. (Please note that altered CBG and ‘Pseudo-Cushing's Syndrome’ have already been ruled out in this patient) b. Name the third First Line Test you will like to carry out in this patient.

Patient no 10 (Recent Updates) A 47 years old male has been diagnosed to be having type 2 diabetes mellitus. He is being investigated for the assessment of glucose control. A new marker 1,5-Anhydroglucitol (1,5-AG) was also analysed. The result shows: Fasting Plasma Glucose : 11.2 mmol/L HbA1c: 7.6 % 1,5-AG: 6 μg/ml a.What does the result of 1,5-Anhydroglucitol (1,5-AG) indicates in this patient? b.Write ONE biochemical basis of change in 1,5-AG in in this patients.

Thank you and Best of Luck