Biochemistry A 16 year old male with a day history of malaise, weakness and vomiting.

He was diagnosed with Insulin dependent diabetes mellitus 3 years prviously. Which ONE of the following supports a diagnosis of diabetic ketoacidosis: Available marks are shown in brackets 1 ) Abdominal pain at onset [0] 2 ) A serum bicarbonate of 10 mmol/l [100] 3 ) A serum glucose 14 mmol/l [0] 4 ) Decreased appetite in the past few days [0] 5 ) Shallow respirations [0] -------------------------------------------------------------------------------Comments: a-An unusual but recognised feature particularly in children. However does not s upport a diagnosis of DKA. b-Suggests metabolic acidosis. c-'Normoglycaemic DKA' can occur and a glucose of 14 doesn't rule out the diagnosis but it does not su pport the diagnosis. d-Usually patients are unwell with infections and anorexia. e-Respiratory compensation leads to rapid deep (Kussmaul's) breathing. A 15 year old girl was admitted eight hours after taking an overdose of Diazepam 30mg and Methotrexate 400mg, which her mother had been prescribed for rheumatoi d arthritis. On examination her Glasgow Coma Score was 10. Which one of the following is the most appropriate immediate action? Available marks are shown in brackets 1 ) assess respiratory function [0] 2 ) Perform immediate gastric lavage [0] 3 ) Treat with activated charcoal [0] 4 ) Treat with folinic Acid [100] 5 ) Urgent liver function tests [0] -------------------------------------------------------------------------------Comments: Methotrexate overdose is extremely rare but potentially fatal with hepatotoxicit y and renal toxicity reported. The most appropriate immediate action is treatmen t with folinic acid (Leucovorin). It is too late to consider gastric lavage or a ctivated Charcoal. Hypomagnesaemia may be caused by which of the following drugs? Available marks are shown in brackets 1 ) Aminophylline [0] 2 ) Cisplatin [100] 3 ) Co-trimoxazole [0] 4 ) Digoxin [0] 5 ) Amitriptyline [0] -------------------------------------------------------------------------------Comments: Thiazide diuretics (not mentioned here) are a common cause of reduced serum magn esium. Cisplatin is a well recognised cause of hypomagnesaemia.

Which of the following concerning the conjugation of bilirubin is correct? Available marks are shown in brackets 1 ) is catalysed by a glucuronyl transferase [100] 2 ) occurs in the Kupfer cells of the liver [0] 3 ) is increased by valproate [0] 4 ) is inhibited by rifampicin [0] 5 ) is impaired in Dubin-Johnson syndrome [0] -------------------------------------------------------------------------------Comments: b - Hepatocytes. c - Enzyme inhibitor. d - Enzyme inducer. e - Conjugation is OK but excretion from the hepatocyte into the bile is impaired. (Gilbert's syndrom e - bilirubin can't Go in to the hepatocyte - unconjugated bilirubinaemia. Crigl er-Najjar syndrome - bilirubin can't Conjugate - unconjugated bilirubinaemia. Du bin-Johnson syndrome - bilirubin can't Depart from the hepatocyte - conjugated b ilirubinaemia.) Lipoprotein lipase deficiency is associated with: Available marks are shown in brackets 1 ) Abetalipoproteinaemia [0] 2 ) Combined hyperlipidaemia [0] 3 ) Familial combined hyperlipidaemia [0] 4 ) Familial Hypercholesterolaemia [0] 5 ) Marked Hypertriglyceridaemia [100] -------------------------------------------------------------------------------Comments: Lipoprotein lipase deficiency is autosomal recessive and associated with increas ed chylomicrons and marked hypertriglyceridaemia. Which of the following is a characteristic feature of familial hypercholesterola emia? Available marks are shown in brackets 1 ) Autosomal dominant inheritance [100] 2 ) elevated chylomicrons [0] 3 ) hypertriglyceridaemia [0] 4 ) increased expression of LDL receptors 5 ) Palmar xanthomas [0]

[0]

-------------------------------------------------------------------------------Comments: Familial hypercholesterolaemia is an autosomal dominant condition manifest by in creased LDL concentrations (not chylomicrons) due to constitutional abnormalitie s and reduced numbers of the LDL receptor. Hypertriglyceridaemia is not characte ristic and HDL concentrations are usually decreased. Tendon xanthomata are chara cteristic and the condition is associated with a premature cardiovascular mortal ity. A 35 year old male presents with weakness and tiredness. He is noted to be hyert ensive. Electrolytes show a hypokalaemia and a hypomagnesaemia. What investigati on would you select for this patient? Available marks are shown in brackets 1 ) Colonoscopy [0]

2 3 4 5

) ) ) )

Plasma renin toaldosterone ratio [100] Serum amylase [0] Serum calcium [0] Oral glucose tolerance test [0]

-------------------------------------------------------------------------------Comments: The hypokalaemic hypertension with hypomagnesaemia suggests primary hyperaldoste ronism. The most reliable assessment for this would be renin to aldosterone rati o. A 15-year-old girl was seen by her family physician because of increasing lethar gy. She had a recent history of the "flu". Biochemistry tests show that she has renal impairement. serum serum serum serum sodium 140 mmol/L (137 - 144) potassium 4.2 mmol/L (3.5 - 4.9) urea 28 mmol/L (2.5 - 7.5) creatinine 280 mol/L (60 - 110)

Her condition does not improve after several weeks on corticosteroid therapy, so a renal biopsy is performed. The biopsy demonstrates the presence of segmental sclerosis of 3 of 10 glomeruli identified in the biopsy specimen. Immunofluoresc ence studies and electron microscopy do not reveal evidence for immune deposits. What is the most appropriate advice to give regarding her condition? Available marks are shown in brackets 1 ) She has an underlying malignancy [0] 2 ) She may require a renal transplant in 10 years [100] 3 ) She will improve if she loses weight [0] 4 ) She will likely develop a restrictive lung disease [0] 5 ) She will probably improve with additional corticosteroid therapy

[0]

-------------------------------------------------------------------------------Comments: The findings point to focal segmental glomerulosclerosis (FSGS), which leads to chronic renal failure in half of cases. The lack of resolution with corticostero id therapy and the progression to chronic renal failure is what sets FSGS apart from minimal change disease. Which of the following features would be expected on lipid analysis in a 57 year old female with two year history of primary biliary cirrhosis? Available marks are shown in brackets 1 ) A lipaemic appearance of the serum would be expected. [0] 2 ) is treated with clofibrate therapy [0] 3 ) is characteristically associated with tendon xanthomas [0] 4 ) is characteristically associated with palmar xanthomas [100] 5 ) No evidence of a dyslipidaemia would be expected with this short a duration of disease [0] -------------------------------------------------------------------------------Comments: In prolonged cholestasis features include: increased serum cholesterol, a modera te increase in triglyceride, the serum is not lipaemic, and reduced HDL levels. Clinical features include: palmar xanthomas; tuberous xanthomas (particularly on

extensor surfaces); tendinous xanthomas are rare. Xanthomas usually only occur if cholestasis has persisted for more than 3 months sometimes fat deposits may i nvolve bone and peripheral nerves. A 80 year-old man presents with deteriorating lumbar and bilateral hip pains. He has recently been seen by his GP with symptoms of prostatism. Investigations revealed: full blood count normal Corrected calcium 2.3 mmol/L (2.2 2.6) ESR 22 mm/1st hr (1-10) Alkaline phosphatase 985 iu/L (50 100) gamma-GT 33 iu/L (10-50) Prostate specific antigen 6.6 pg/L (0-6) What is the most likely cause of this man's pain? Available marks are shown in brackets 1 ) Osteomalacia [0] 2 ) Multiple myeloma [0] 3 ) Paget's disease of the pelvis [100] 4 ) Polymyalgia rheumatica [0] 5 ) Prostatic carcinoma with metastases [0] -------------------------------------------------------------------------------Comments: This elderly patient presenting with bone pains has elevated alkaline phosphatas e with normal calcium concentrations suggesting a diagnosis of Paget's. The slig htly elevated PSA is in keeping with benign prostatic hypertrophy rather than pr ostatic malignancy where a PSA of above 10 would be expected. The normal calcium and only slightly elevated ESR argues against osteomalacia, myeloma and PMR. A 75 year old man presents with a long history of shortness of breath and ankle oedema. His serum biochemistry shows sodium 122 mmols/l and potassium of 2.9 mmo ls/l. He now complains of weakness. Which of the following is likely to explain the above biochemical picture? Available marks are shown in brackets 1 ) Addison's Disease [0] 2 ) Nephrotic syndrome [0] 3 ) Primary hyperaldosteronism [0] 4 ) SIADH [0] 5 ) Diuretic therapy [100] -------------------------------------------------------------------------------Comments: The long history of his symptoms and serum biochemistry suggests that his condit ion is due to treatment with frusemide for CCF. Which of the following is true of Gilbert's syndrome? Available marks are shown in brackets 1 ) inheritance is autosomal recessive [0] 2 ) serum conjugated bilirubin levels are elevated 3 ) serum bilirubin levels are decreased by fasting

[0] [0]

4 ) serum bilirubin levels are decreased by liver enzyme inducers 5 ) there is bilirubinuria [0]

[100]

-------------------------------------------------------------------------------Comments: Gilbert's syndrome is inherited in autosomal dominant fashion and affects 2-5% o f the population. UDP glucuronyl transferase levels are reduced leading to an un conjugated hyperbilirubinaemia. Whilst serum bilirubin levels are elevated the o ther LFTs are normal. Jaundice deepens after a period of fasting or intercurrent illness but bilirubin levels are reduced by enzyme inducers such as phenobarbit one. As unconjugated bilirubin is tightly bound to albumin it cannot cross the g lomerulus and so is not found in the urine. This contrasts with the bilirubin-gl ucuronide-albumin complex formed in patients with cholestatic jaundice (and rais ed conjugated bilirubin levels) where 1% of the complex is dialysable and althou gh most of the bilirubin is reabsorbed in the proximal tubule some bilirubin is detectable in the urine. Which ONE of the following is true concerning Antidiuretic hormone (ADH)? Available marks are shown in brackets 1 ) Carbamazepine potentiates it's release [100] 2 ) Ethanol potentiates it's release [0] 3 ) It circulates in the blood bound to neurohypophysin 4 ) It is a cyclic octapeptide [0] 5 ) It is synthesised in the posterior pituitary [0]

[0]

-------------------------------------------------------------------------------Comments: ADH is a nonapeptide manufactured in the paraventricular and supra-optic nuclei of the hypothalamus and released from the posterior pituitary. It acts on the co llecting ducts improving water permeability and hence water retention. Carbamaze pine as well as other agents such as thiazides and SSRIs may potentiate its rele ase. Ethanol usually inhibits release. In which of the following is mental retardation an expected finding? Available marks are shown in brackets 1 ) Alkaptonuria [0] 2 ) Cystinuria [0] 3 ) Glycogen storage disease [0] 4 ) Lactose intolerance [0] 5 ) Maple syrup urine disease [100] -------------------------------------------------------------------------------Comments: MENTAL RETARDATION. Fragile X syndrome-commonest male cause. Hypoxia at birth, i ntaventricular haemorrhage, rhesus disease, Congenital infections -toxoplasmosis , CMV, rubella, herpes), hypoglycaemia, meningitis, hypothyroidism (cretinism, t uberous sclerosis, Down's, Tay-Sach's, Cornelia De Lange, Hartnup - biochemical, treatable with diet. -homocystinuria, phenylketonuria -maple syrup urine diseas e, tryptophanuria -galactosaemia A 55 year old female who received radioactive iodine over five years ago present s for annual thyroid function assessment. She is well and takes no medication. Her results reveal: Free Thyroxine 13.2 pmol/l (9.8 - 23) TSH 16 mU/l (0.5-4.5 mU/l) Total cholesterol 6.8 mmol/l(<5 mmol/l)

Plasma triglycerides 2.2 mmol/l(<2 mmol/l) What is the most appropriate treatment for this patient's dyslipidaemia? Available marks are shown in brackets 1 ) Cholestyramine [0] 2 ) Fibrate therapy [0] 3 ) Hormone replacement therapy [0] 4 ) Statin therapy [0] 5 ) Thyroxine [100] -------------------------------------------------------------------------------Comments: This patient has subclinical hypothyroidism as reflected by the normal T4 but el evated TSH. A hypercholesterolaemia with hypertriglyceridaemia is frequently ass ociated due to impaired lipoprotein lipase function. The dyslipidaemia may well resolve following the appropriate replacement with thyroxine. Which of the following techniques would be most useful in the differential diagn osis between ectopic Cushing's syndrome and pituitary dependent Cushing's diseas e. Available marks are shown in brackets 1 ) Urine free cortisol [0] 2 ) High dose Dexamethasone suppression test 3 ) ACTH concentrations [0] 4 ) Inferior petrosal sinus sampling [100] 5 ) CRF test [0]

[0]

-------------------------------------------------------------------------------Comments: Inferior petrosal sinus sampling with an elevated central ACTH concentration com pared with the peripheral value is the most valuable test in the differential di agnosis of either Cushing's disease or ectopic Cushing's syndrome. The other tes ts are far less useful in comparison. A 42-year-old female presents with tiredness. Her investigations reveal: Haemoglobin 7.8 g/dl (11. 5 - 16.5) MCV 72 fL (80 - 96) white cell count 7.6 x 109/L (4 - 11) platelet count 350 x 109/L (150 - 400) serum ferritin 8 g/L (15 - 300) She was commenced on oral iron therapy and one month later her haemoglobin conce ntration was 8. 0 g/dl. What is the most likely cause of the failure of her haem oglobin to respond to this treatment? Available marks are shown in brackets 1 ) coeliac disease [0] 2 ) folate deficiency [0] 3 ) inadequate dosage of iron [0] 4 ) poor compliance with therapy [100] 5 ) sideroblastic anaemia [0]

-------------------------------------------------------------------------------Comments: The most likely explanation for the failure of an iron deficiency anaemia to res pond to iron therapy in a menstruant female is poor compliance. It is likely tha t the dose that this patient is prescribed would be adequate and if not some res ponse would still be expected. There is no evidence of a concomitant folate defi ciency as suggested by the blood picture, which would also argue against Coeliac disease. Similarly, there is no evidence to suggest a sideroblastic anaemia whe re a raised MCV and increased ferritin may be expected. Which of the following is most likely be associated with hyperkalaemia? Available marks are shown in brackets 1 ) Cushing's syndrome [0] 2 ) Beta adrenergic stimulation [0] 3 ) Mannitol [0] 4 ) Cyclosporin [100] 5 ) Bartter's syndrome [0] -------------------------------------------------------------------------------Comments: Common causes of hyperkalaemia include 1. Impaired renal excretion: renal failur e, hyporeninaemic hypoaldosteronism (type IV renal tubular acidosis), Addison's, C-21 hydroxylase deficiency. 2. Cellular changes: acidosis, rhabdomyolysis, tum our lysis, malignant hyperthermia, burns. 3. Drugs: potassium retaining diuretic s, ACE inhibitors, NSAIDs, cyclosporin, digoxin, succinyl choline, beta-blockers . A 65 year-old male presents with a six month history of diarrhoea with pale stoo ls and weight loss. Relevant results show: Calcium 1.8 mmol/L (2.2-2.6) Alkaline phosphatase 350 U/L (45-105 What is the most likely diagnosis? Available marks are shown in brackets 1 ) coeliac disease [0] 2 ) Giardia lamblia infection [0] 3 ) pancreatic carcinoma [100] 4 ) Small Intestinal bacterial overgrowth 5 ) Whipple s disease [0]

[0]

-------------------------------------------------------------------------------Comments: The patient has a marked osteomalacia associated with malabsorption. In this age pancreatic carcinoma is the most probable diagnosis. Coeliac disease very seldo m causes such an increased alk phos and is more likely to present with iron defi ciency anaemia. The villous atrophy caused by Giardia is very transient. Whipple s is extremely rare, found in middle aged men and caused by a bacillus, Trophery ma Whippelii. A 65 year-old male presents with a six month history of diarrhoea with pale stoo

ls and weight loss. Relevant results show: Calcium 1.8 mmol/L (2.2-2.6) Alkaline phosphatase 350 U/L (45-105 What is the most likely diagnosis? Available marks are shown in brackets 1 ) coeliac disease [0] 2 ) Giardia lamblia infection [0] 3 ) pancreatic carcinoma [100] 4 ) Small Intestinal bacterial overgrowth 5 ) Whipple s disease [0]

[0]

-------------------------------------------------------------------------------Comments: The patient has a marked osteomalacia associated with malabsorption. In this age pancreatic carcinoma is the most probable diagnosis. Coeliac disease very seldo m causes such an increased alk phos and is more likely to present with iron defi ciency anaemia. The villous atrophy caused by Giardia is very transient. Whipple s is extremely rare, found in middle aged men and caused by a bacillus, Trophery ma Whippelii. A 17 year-old girl presents with vomiting and her investigations show: sodium 12 0 mmol/L (137 - 144) potassium 3.0 mmol/L (3.5-4.9) urea 2.2 mmol/L (2.5 - 7.5) urine sodium 2 mmol/L urine osmolality 700 mosmol/kg (350 - 1000) What is the most likely diagnosis? Available marks are shown in brackets 1 ) Addison's disease [0] 2 ) bulimia nervosa [100] 3 ) diuretic abuse [0] 4 ) syndrome of inappropriate antidiuretic hormone secretion 5 ) water intoxication [0]

[0]

-------------------------------------------------------------------------------Comments: This patient is likely to have Bulimia young girl with a likely low body mass co ntributing to the low urea, vomiting contributing to the hypokalaemia/hyponatrae mia. Her urine sodium is appropriately low and due to a relative dehydration she has appropriately concentrated urine. This is not Addison s disease as urine sodi um would be high with high urea and likely high potassium. Similarly it is not S IADH due to the low urine sodium. Diuretic abuse would cause high urine sodium. Water intoxication would produce a dilute urine. Which of the following is associated with Hyperuricaemia? Available marks are shown in brackets 1 ) is usually due to an excess purine consumption [0]

2 3 4 5

) ) ) )

occurs in association with acute lymphoblastic leukaemia [100] in primary gout is inherited in an autosomal dominant manner [0] can be reduced with low dose aspirin therapy [0] can be treated with uricosuric drugs even in renal failure [0]

-------------------------------------------------------------------------------Comments: Hyperuricaemia may be due to increased purine intake, urate production or reduce d urate clearance, and is most commonly due to the latter. Therefore it can occu r in association with enhanced cell destruction particularly leukaemias. Primary gout has no obvious mode of inheritance, but familial juvenile gouty nephropath y is an autosomal dominantly inherited disorder. Low dose aspirin may exacerbate gout but high dose aspirin is uricosuric. Many of the uricosuric drugs may be d etrimental in renal failure and may not be effective. Gaucher's Disease is associated with the deficiency of : Available marks are shown in brackets 1 ) Hexosaminidase A [0] 2 ) Sphingomyelinase [0] 3 ) Arylsulphatase-A [0] 4 ) B- Glucosidase [100] 5 ) Iduronidase [0] -------------------------------------------------------------------------------Comments: Hexosaminidase A deficiency is associated Tay-Sachs disease. Sphingomyelinase de ficiency is associated with Niemann-Pick disease. Arylsulphatase-A deficiency is associated with metachromic leucodystrophy.Iduronidase deficiency is associated with Hurlers syndrome. A 58-year-old man presents with a month history of breathlessness. He was a nonsmoker. On examination, his temperature was 36.7C, with a respiratory rate of 20 breaths per minute and normal breath sounds to auscultation and a pulse of 92 bp m. Arterial blood gases on air showed: pH 7.51 (7.36 - 7.44) pO2 8.4 kPa (11.3 - 12.6) pCO2 4.0 kPa (4.7 - 6.0) What is the most likely diagnosis? Available marks are shown in brackets 1 ) atypical pneumonia [0] 2 ) fibrosing alveolitis [0] 3 ) hysterical hyperventilation [0] 4 ) inhaled foreign body [0] 5 ) pulmonary thromboembolism [100] -------------------------------------------------------------------------------Comments: This patient has a metabolic alkalosis with type 1 respiratory failure as eviden ced by low pO2 and low pCO2. Chronic venous thromboembolism would be the most li kely explanation for this man s presentation. Hyperventilation would be excluded b y the type 1 respiratory failure, an inhaled foreign body would not produce such a picture and an atypical pneumonia would be associated with pyrexia and some c linical signs. The differential diagnosis here is pulmonary fibrosis but basal c

rackles may be expected and the history is somewhat short. A 60-year-old man was diagnosed last year with adenocarcinoma of the lung, and a 4 cm mass lesion was treated with a right lower lobectomy. He now has an abdomi nal CT scan that reveals scattered hepatic mass lesions and hilar lymphadenopath y. For several weeks, he has had increasing malaise. A urinalysis reveals marked proteinuria, and a 24 hour urine protein collection is 2.7 g/24hr. His serum ur ea is 30 mmol/L (2.5 - 7.5) with creatinine of 450 mol/L (60 - 110). A renal biop sy is performed, and there is focal deposition of IgG and C3 with a granular pat tern. He is most likely to have which of the following conditions? Available marks are shown in brackets 1 ) Goodpasture's syndrome [0] 2 ) Membranous glomerulonephritis [100] 3 ) Minimal change glomerulonephritis [0] 4 ) Nodular glomerulosclerosis [0] 5 ) Rapidly progressive glomerulonephritis [0] -------------------------------------------------------------------------------Comments: Most cases of membranous GN are idiopathic, but in some patients there is a hist ory of an infection or a malignancy (usually lung) with antigenemia. Which of the following may be responsible for a hypokalaemic hypertension Available marks are shown in brackets 1 ) Non-classical congenital adrenal hyperplasia 2 ) Barter's syndrome [0] 3 ) Diabetic nephropathy [0] 4 ) Liddle's syndrome [100] 5 ) Type IV renal tubular acidosis [0] [0]

-------------------------------------------------------------------------------Comments: Liddle's syndrome is typically asscoiated with hypokalaemic hypertension and low renin and aldosterone concentrations - the so called pseudo-hyperaldosteronism. Barter's syndrome is associated with hypokalaemia though hypertension is not a feature. In type IV RTA, there is a hyporeninaemic hypoaldosteronism, which may also be produced with diabetic nephropathy. Hence hyperkalaemia is more typical.

Which of the following statements is true concerning gamma glutamyl transferase? Available marks are shown in brackets 1 ) Increased GGT is found in fatty liver [100] 2 ) Isolated elevation of gamma GT in a patient with prostatic carcinoma Indicat es the presence of hepatic metastases. [0] 3 ) It is a better indicator of infectious hepatitis than of cholestasis [0] 4 ) It is only present in the liver [0] 5 ) Serum activity is typically elevated in pregnancy [0]

-------------------------------------------------------------------------------Comments: GGT found in muscle, prosate as well as liver. Increased levels of GGT are found

in cholestatic liver disease and in hepatocellular disease when there is an ele ment of cholestasis. Levels are increased with chronic intake of excess alcohol and with certain drugs (esp phenytoin), as a result of enzyme induction. Pancrea titis and prostatitis may also be associated with increased levels. Levels may b e normal early in the course of acute hepatocellular damage eg acute viral hepat itis, paracetamol hepatotoxicity. Elevations in pregnancy would suggest liver di sease. Which of the following statements concerning abnormalities of the haemoglobin mo lecule is true? Available marks are shown in brackets 1 ) Alpha thalassaemia is due to a deficiency of beta-chain production [0] 2 ) HbS is caused by a single base mutation on the beta-chain [100] 3 ) genes for the alpha and beta chains are located on the same chromosome [0 ] 4 ) in thalassaemia persistance of HbF is an adverse prognostic sign [0] 5 ) oliguneoclitide probes may assist in the diagnosis of haemoglobinopathies [0] -------------------------------------------------------------------------------Comments: Alpha Thalassaemia is due to abnormalities of the alpha chain. Persistence of Hb F has survival advnatages in severely affected subjects. C-alpha 16, beta 11. eHb electrophoresis A 46-year-old male was seen for an insurance medical examination. He was entirel y asymptomatic, but his serum urate concentration was noted to be 0.5 mmol/L (0. 23 - 0.46). What is the most appropriate management for this patient? Available marks are shown in brackets 1 ) Allopurinol [0] 2 ) Colchicine [0] 3 ) Ibuprofen [0] 4 ) Lifestyle intervention [100] 5 ) Sulphinpyrazone [0] -------------------------------------------------------------------------------Comments: This asymptomatic patient requires only lifestyle advice i.e weight loss if appr opriate, an appropriate diet and reduction of alcohol. Metabolic alkalosis is characteristically found in which of the following? Available marks are shown in brackets 1 ) An infusion of sodium chloride [0] 2 ) Ileostomy [0] 3 ) Mineralocorticoid deficiency [0] 4 ) Pyloric stenosis [100] 5 ) Salicylate poisoning [0] -------------------------------------------------------------------------------Comments: hen Pyloric stenosis is associated with vomiting and the loss of stomach content ce a metabolic alkalosis. Mineralocorticoid excess (Conn's syndrome) is associat

ed with a metabolic alkalosis. Ileostomy may be associated with a loss of bicarb onate ions and hence acidosis. Salicylates are themselves acidic and produce a m etabolic acidosis. A sodium chloride infusion is neutral and does not alter pH. A 16 year old girl presents with a 2 day history of deteriorating breathlessness and dyspnoea. Blood gas analysis shows a pH of 7.25, a PCO2 of 7.0kPa, a PO2 of 8.5kPa, and a base excess of -4. Which of the following interpretations is corr ect? Available marks are shown in brackets 1 ) Results are consistent with bronchopulmonary dysplasia. [0] 2 ) Blood gases suggest type 1 respiratory failure. [0] 3 ) Immediate intubation is required. [0] 4 ) Results are consistent with late severe asthma. [100] 5 ) Bicarbonate may be necessary to correct the acidosis. [0] -------------------------------------------------------------------------------Comments: In interpreting blood gas results, the following sequence may be useful: Inspect the pH: Is it low, normal or high? Inspect the CO2: Is it low, normal or high? Inspect the PO2: Is it low, normal or high? If the pH is low then an acidosis is present, and inspecting the CO2 will enable you to determine whether this is due to respiratory or metabolic causes. Inspec ting the PO2 will tell you whether the patient is hypoxic or not. In this case, the pH is reduced, and the CO2 is high, with a base deficit of only -4, insuffic ient to explain the acidosis from metabolic causes. This is, therefore, a respir atory acidosis, and the PO2 is also low suggesting type 2 respiratory failure. P ossible causes would include severe pneumonia, end stage asthma or neurogenic ca uses such as guillain-Barre. In asthma, the initial stages show a low CO2, with this climbing only to accompany failing respiration. The results would therefore be consistent with late severe asthma. In bronchopulmonary dysplasia, there is usually long-term CO2 retention with compensatory increase in bicarbonate leadin g to a positive base excess and normal pH. Bicarbonate is usually only considere d if the base deficit exceeds about -8. A 55 year-old female complaining of vague tiredness is found to have a serum cor rected calcium concentration of 2.9 mmol/l. Examination was unremarkable. Which of the following results confirms the suspected diagnosis of primary hyperparath yroidism? Available marks are shown in brackets 1 ) High normal 1,25-dihydroxyvitamin D concentration [0] 2 ) High normal 24 hour urinary calcium concentration [0] 3 ) High normal plasma parathyroid hormone concentration [100] 4 ) Low normal plasma phosphate concentration [0] 5 ) Low normal serum 25-hydroxyvitamin D concentration [0] -------------------------------------------------------------------------------Comments: Bit too easy really. A high or even normal PTH concentration in the presence of hypercalcaemia would support the diagnosis of hyperparathyroidism. A high urinar y Calcium concentration may be expected as would a low plasma phosphate but neit her confirm the diagnosis. Elevated 1,25 VitD suggests a diagnosis of hypervitam inosis D.

A 70 year old man underwent emergency surgery for an acute abdomen. Following su rgery she was noted to have become oliguric. Investigations revealed the followi ng: sodium 121 mmol/L (137-144) potassium 6.6 mmol/L (3.5-4.9) chloride 92 mmol/L (95-107) Urea 17.2 mmol/l (3-8) creatinine 250 micromol/L (60-110) Arterial blood gas pH 7.16 Standard Bicarbonate 15.6 (21-27) What is the calculated anion gap for this patient? Available marks 1 ) 5 mmol/L 2 ) 10 mmol/L 3 ) 15 mmol/L 4 ) 20 mmol/L 5 ) 25 mmol/L are shown in brackets [0] [0] [0] [100] [0]

-------------------------------------------------------------------------------Comments: Anion gap is calculated as (Na+K) - (Cl+HCO3). Therefore in this patient, the ca lculated value is 20 mmol/l. The normal anion gap is between 8-16 mmol/l, the ex cessive value reflecting the presence of other acidic anions and in this case wi th the metabolic acidosis the constituents may be lactate etc Which of the following concerning the pH of urine is correct? Available marks are shown in brackets 1 ) is a useful indicator of the acid/base balance of the blood [0] 2 ) rises on a vegetarian diet [100] 3 ) is determined by the concentration of ammonium [0] 4 ) is lower than 5.5 in renal tubular acidosis [0] 5 ) would be above 7.0 after prolonged and severe vomiting [0] -------------------------------------------------------------------------------Comments: c - excretion of ammonium occurs when an acid urine is produced but the pH of ur ine is of course determined by the concentration of H+ ions d-unable to lower th e pH to less than 5.5 in RTA e- This would be expected in an attempt to compensa te for the loss of acid however when there is extracellular fluid depletion the retention of sodium takes priority. Instead of bicarbonate being excreted it is reabsorbed in the proximal and distal nephron and this perpetuates the metabolic alkalosis until the fluid balance is restored with IV fluids. A 60 year old male is brought to casualty in the early hours of the morning afte r being found unconscious in the street. On examination, he was drowsy but local ised to painful stimuli. There was no evidence of head injury or meningism. Inve stigations revealed: sodium 134 mmol/L (137-144) potassium 4.0 mmol/L (3.5-4.9) urea 4.0 mmol/L (2.5-7.5) creatinine 80 micromol/L(60-110) glucose 4.5 mmol/L (3.0-6.0) chloride 100 mmol/L (95 - 107) bicarbonate 25 mmol/L (20 - 28) plasma osmolality 385 mosmol/Kg (278 - 305)

What is the most likely explanation for his presentation? Available marks are shown in brackets 1 ) diazepam poisoning [0] 2 ) ethanol poisoning [100] 3 ) methanol poisoning [0] 4 ) phenobarbitone poisoning [0] 5 ) Phenytoin poisoning [0] -------------------------------------------------------------------------------Comments: This gent is intoxicated. He has a normal acid base balance slight hyponatraemia reflecting dilution and very high osmolality reflecting the presence of ethanol . Methanol would produce an acidosis. Diazepam is not an osmolyte nor would the other agents produce this picture. A 53-year-old man presented with hypertension of 150/110 mmHg. He is generally a symptomatic and has no previous medical history of note. He is a smoker of 5 cig arettes daily and drinks modest quantities of alcohol. He takes no prescribed me dications. Examination reveals a BMI of 33.5 kg/2 but nil else. The following de tail his investigations: Serum sodium 146 mmol/l (NR 133-145) Serum potassium 3.2 mmol/l (NR 3.5 - 5) Urinary potassium excretion 42 mmol/l (NR less than 30) What is the likely diagnosis? Available marks are shown in brackets 1 ) Adrenocortical adenoma [100] 2 ) Bartter's syndrome [0] 3 ) Liddle's syndrome [0] 4 ) Liquorice ingestion [0] 5 ) Pheochromocytoma [0] -------------------------------------------------------------------------------Comments: This patient is most likely to have Conn's syndrome as reflected by the hypokala emic hypertension. Liquorice ingestion or Liddle's syndrome are again possible c auses of hypokalaemic hypertension but the question asks for the most likely cau se. This is Conn's and is most often caused by an adrenocortical adenoma. Aldost erone promotes active sodium transport and excretion of potassium in the renal t ubules (and also sweat glands, salivary glands and colon). "Clinically, [Primary hyperaldosteronism] Conn's syndrome is characterized by hypertension (often dia stolic hypertension), muscular weakness, paresthesias, headache, polyuria, and p olydipsia." A 17 year female presents with tingling and muscle cramps. There is no other pas t medical history of note. Investigations reveal Creatinine 68 micromol/L (50-10 0) calcium 1.76 mmol/L (2.2-2.6) albumin 38 g/L (37-49)

Which one of the following investigations is most likely to confirm the diagnosi s? Available marks are shown in brackets 1 ) Alkaline phosphatase concentration 2 ) CT brain scanning [0] 3 ) PTH concentration [100] 4 ) Urine calcium concentration [0] 5 ) Vitamin D concentration [0]

[0]

-------------------------------------------------------------------------------Comments: This patient has low calcium which could be due to either Vitamin D deficiency o r hypoparathyroidism. The most likely cause in a young patient who has otherwise been quite well with normal renal function would therefore be hypoparathyroidis m. Urine calcium concentrations are useful in familial hypercalciuric hypercalca emia. A 50-year-old male presented with acute respiratory failure during an episode of acute pancreatitis and was thought to have developed adult respiratory distress syndrome (ARDS). Which of the following would support a diagnosis of ARDS? Available marks are shown in brackets 1 ) High pulmonary capillary wedge pressure 2 ) High protein pulmonary oedema [100] 3 ) Hypercapnia [0] 4 ) Increased lung compliance [0] 5 ) Normal chest X-ray [0]

[0]

-------------------------------------------------------------------------------Comments: ARDS is characterised by hypoxaemia, reduced lung compliance, pulmonary hyperten sion and pulmonary infiltrates on the chest X-ray. There is damage to the capill ary and endothelial cell linings resulting in oedema and leakage of proteins and cells into the interstitial and alveolar spaces at normal pulmonary capillary h ydrostatic pressures. Wedge pressure unlike the high pressures seen with LVF and pulmonary oedema is often normal. Hypercapnia often a late feature of ARDS does not distinguish from any other cause of type 2 respiratory failure. These are the blood gas results obtained in a 20 year old female admitted to hos pital. hydrogen ion concentration 35 nmol/L (35 45) pH 7.45 (7.35-7.45) pC02 6.8 kPa (4.6 5.9) bicarbonate 32 mmol/L (22 - 26) Which one of the following is a recognised cause of this acid-base disorder? Available marks are shown in brackets 1 ) Amitriptyline overdose [0] 2 ) Cushing's syndrome [0] 3 ) Hepatic failure [0] 4 ) Pregnancy [100] 5 ) Salicylate poisoning [0]

-------------------------------------------------------------------------------Comments: This patient has a mild metabolic alkalosis with what appears to be respiratory compensation as reflected by the elevated pCO2. Amitriptyline overdose is associ ated with acidosis as is salicylate poisoning. Hepatic failure usually presents with acidosis. This type of picture is associated with prolonged vomiting (as in pregnancy), diarrhoea, diuretic therapy and in Cushing s syndrome or in those rec eiving high dose corticosteroids. With no other information provided for this ca se, common things being common, one should select pregnancy as the best answer f or a 20 year old female. A 50 year old male is admitted with a 3 hour history of central chest pain sweat ing and nausea. He has no relevant past medical history although his father died of an MI at the age of 48 and he is a smoker of 5 cigarettes per day. He curren tly takes no medication. He is seen in the morning on the consultant ward round 12 hours after admission and his pain has now settled. Examination reveals no sp ecific abnormality and his ECG is normal. Which of the following investigations would be most appropriate for this patient? Available marks are shown in brackets 1 ) Coronary Angiography [0] 2 ) Echocardiography [0] 3 ) Endoscopy [0] 4 ) Exercise ECG [0] 5 ) Troponin T [100] -------------------------------------------------------------------------------Comments: This smoker has a good history of angina and a strong family history of IHD. The most appropriate investigation would be a troponin T concentration would is hig hly specific and sensitive for IHD if elevated. An exercise test is relevant onl y after an acute coronary event has been excluded (by troponin T). If positive t hen angiography should be performed. An 80 year-old male presents with a brief history of weakness and giddiness, fol lowing an episode of diarrhoea. He has been taking bendrofluazide for the last 3 years. On examination, his pulse is 100 beats per minute with a blood pressure of 130/80 mmHg (lying) and 100/70 mmHg (standing). Investigations reveal: Sodium 120 mmol/L Potassium 5.5 mmol/L Urea 13 mmol/L Creatinine 130 umol/L random plasma glucose 13 mmol/L What is the most likely cause of the hyponatraemia? Available marks are shown in brackets 1 ) Bendrofluazide [0] 2 ) Diarrhoea [100] 3 ) Hyperglycaemia [0] 4 ) Hypoadrenalism [0] 5 ) Inappropriate secretion of antidiuretic hormone

[0]

-------------------------------------------------------------------------------Comments:

The patient is diabetic as reflected by the elevated random glucose, has hyponat raemia, renal impairment and mild hyperkalaemia which appears to have been preci pitated following diarrhoea. Hypoadrenalism is unlikely as he has hyperglycaemia . SIADH is unlikely in the context of the elevated urea and potassium. The high potassium would argue against this being caused by the bendrofluazide. Similarly , hyperglycaemia would itself cause a picture of dehydration where the sodium is likely to be elevated. Leukotrienes: Available marks are shown in brackets 1 ) Are formed from the cyclooxygenase pathway [0] 2 ) Are synthesized by fibroblasts [0] 3 ) Decrease vascular permeability [0] 4 ) Leukotriene D4 has been identified as SRS-A which causes bronchial wall smoo th muscle relaxation [0] 5 ) Stimulate mucus secretion [100] -------------------------------------------------------------------------------Comments: Leukotrienes are synthesized by leucocytes.They are mediators of allergic reacti on. They increase vascular permeability and attract neutrophils and eosinophils to inflammatory sites. Leukotrienes are synthesised via the lipoxygenase pathway . Leukotriene D4 has been identified as SRS-A which causes bronchial wall and in testinal smooth muscle contraction (not dilatation). Leukotrienes also stimulate mucus production, an important consideration in the pathophysiology of bronchia l asthma. Which of the following is activated by Cholera toxin? Available marks are shown in brackets 1 ) Adenylate cyclase [100] 2 ) Guanlyate cyclase [0] 3 ) Peroxisome proliferator receptor (PPAR) gamma 4 ) Sodium/potassium ATPase [0] 5 ) The glucose-sodium transporter [0]

[0]

-------------------------------------------------------------------------------Comments: Cholera toxin activates adenylate cyclase with generation of cAMP. Phenytoin: Available marks are shown in brackets 1 ) Is associated with red-green colour blindness [0] 2 ) Toxicity is associated with orchitis [0] 3 ) A steady state blood level is achieved by 2-5 days [0] 4 ) Can be used in management of alchohol withdrawl syndrome 5 ) Is the drug of choice in absence seizures. [0]

[100]

-------------------------------------------------------------------------------Comments: Phenytoin is an imidazolidine derivative.It relates to barbiturates in chemical structure. Clinically effective seum level is in the range on 10-20 micrograms/m l. A steady state blood level is achieved by 7-10 days.

A 50-year-old man is admitted with cardiogenic shock due to an acute myocardial infarction. His urine output drops over the next few days. His serum urea increa ses to 18 mmol/L, with creatinine of 300 micromol/L. Urinalysis reveals no prote in or glucose, a trace blood, and numerous hyaline casts. Several days later, he develops polyuria and his serum urea and creatinine falls. Which of the followi ng pathologic findings is most likely to be seen in his kidneys? Available marks are shown in brackets 1 ) Fusion of podocyte foot processes [0] 2 ) Glomerular crescents [0] 3 ) Hyperplastic arteriolosclerosis [0] 4 ) Mesangial immune complex deposition [0] 5 ) Patchy tubular necrosis [100] -------------------------------------------------------------------------------Comments: He would have findings of ischaemic acute tubular necrosis from cardiogenic shoc k. Fusion of podocyte foot processes is seen in mimimal change glomerulonephriti s. Glomerular crescents can complicate any glomerulopathy but, along with mesang ial immune complex deposition, is usually an immune-mediated process. Hyperplast ic arteriolosclerosis is the 'onion skin' appearence of arterioles in malignant hypertension. Which one of the following is true of IgE? Available marks are shown in brackets 1 ) Is present in plasma in the same concentration as IgG [0] 2 ) Is increased acutely in an asthmatic attack [0] 3 ) Crosses the normal placenta [0] 4 ) Is increased in the serum of atopic individuals [100] 5 ) Is involved in type 2 hypersensitivity [0] -------------------------------------------------------------------------------Comments: IgG is the predominant form of immunoglobulin in plasma at a concentration aroun d 10,000 times that of IgE. IgG crosses the placenta to confer immunity to the f etus but IgE does not. IgE is involved in arming mast cells and basophils. IgE c auses mast cells to release vasoactive amines, such as histamine, producing an i nflammatory response which can result in a type I hypersensitivity reaction. IgE is responsible for allergen-mediated diseases such as anaphylaxis, asthma and a topy. Total serum IgE is frequently increased in those with atopy but serum IgE does not rise acutely during an asthmatic attack. These are the blood gas results obtained in a 20 year old female admitted to hos 45) pital. hydrogen ion concentration 35 nmol/L (35 pH 7.45 (7.35-7.45) pC02 6.8 kPa (4.6 5.9) bicarbonate 32 mmol/L (22 - 26) Which one of the following is a recognised cause of this acid-base disorder? Available marks are shown in brackets 1 ) Amitriptyline overdose [0] 2 ) Cushing's syndrome [0] 3 ) hepatic failure [0] 4 ) pregnancy [100] 5 ) salicylate poisoning [0]

-------------------------------------------------------------------------------Comments: This patient has a mild metabolic alkalosis with what appears to be respiratory compensation as reflected by the elevated pCO2. Amitriptyline overdose is associ ated with acidosis as is salicylate poisoning. Hepatic failure usually presents with acidosis. This type of picture is associated with prolonged vomiting (as in pregnancy), diarrhoea, diuretic therapy and in Cushing s syndrome or in those rec eiving high dose corticosteroids. With no other information provided for this ca se, common things being common, one should select pregnancy as the best answer f or a 20 year old female. Which of the following is NOT employed in the laboratory diagnosis of respirator y viral infections? Available marks are shown in brackets 1 ) Immunofluorescence [0] 2 ) Tissue culture [0] 3 ) Haemaglutination [0] 4 ) ELISA [0] 5 ) Single radial haemolysis (SRH) [100] -------------------------------------------------------------------------------Comments: Rapid antigen-detection kits utilizing direct immunofluorescence are used to dem onstrate RSV, influenza, parainfluenza and adenovirus in respiratory secretions. Respiratory viruses can be grown in various cell lines e.g. HeLa cells or fibro blasts. Influenza is a haemaglutinating virus as red cells stick to the infected cells after addition to the culture. ELISA is used to look for antibodies in ac ute and convalescent sera. The SRH test is used to screen for rubella antibodies in pregnant women. With regard to cardiac troponins, which ONE of the following statements is corre ct? Available marks are shown in brackets 1 ) Elevated plasma troponin concentrations are specific markers of ischaemic he art disease [0] 2 ) Plasma troponin concentrations are typically elevated three weeks after an a cute myocardial infarction [0] 3 ) Plasma troponin concentrations are typically reduced in subjects with atrial fibrillation [0] 4 ) The specificity of troponins for myocardial injury is similar to that of cre atine kinase- MB [0] 5 ) The clinical role of troponins is to rule out acute myocardial infarction in patients presenting with chest pain [100] -------------------------------------------------------------------------------Comments: Elevated troponin concentrations are highly specific for cardiac injury/infarcti on and are usually normal in patients with ischaemic heart disease/angina but ma

y also be elevated in patients with pulmonary embolism or renal failure (reduced excretion). Concentrations typically peak 12-24 hrs after myocardial injury and remain elevated for 7-14 days. Studies reveal that raised troponins are far mor e specific than CK-MB. Which of the following statements regarding Phenylketonuria is correct? Available marks are shown in brackets 1 ) Serum tyrosine levels are typically low [0] 2 ) Urinary phenylalanine metabolites are typically high [100] 3 ) Mental retardation does not occur if the patient adheres to a phenylalanine free diet [0] 4 ) Is classically due to deficiency of tyrosine hydroxylase [0] 5 ) Inheritance is X-linked recessive [0] -------------------------------------------------------------------------------Comments: Phenylketonuria (PKU) is the result of hyperphenylalaninaemia. It is autosomal r ecessive, with a prevalence of 1:10-20,000 live births. Phenylalanine is an esse ntial amino acid. Dietary phenylalanine is not utilised for protein synthesis, b ut is normally degraded via the tyrosine pathway. Failure of this results in oth er metabolites that cause brain damage. Deficiency of phenylalanine hydroxylase (Chromosome 12) or of the cofactor tetrahydrobiopterin (Genes on Chromosome 10 a nd 4) causes accumulation of phenylalanine in body fluids. The affected infant i s usually normal at birth, and although blood phenylalanine levels may rise as e arly as 4 hours after birth, mental retardation develops gradually, and may not be apparent for a few months. About 25% if infants have seizures, but over 50% h ave an abnormal EEG. Microcephaly, prominent maxilla, growth retardation and wid e-spaced teeth are found in untreated children. Even with dietary treatment, som e degree of cognitive impairment is seen and can vary from gross impairment or c hanges detected on cognitive tests. Cerebral white matter changes are seen in ol der patients and may reflect a combination of late diagnosis and dietary indiscr etion. Diagnosis of classic PKU requires raised Phe levels, normal plasma tyrosi ne levels, increased urinary Phe metabolites and normal cofactor (tetrahydrobiop terin) concentrations Which one of the following is a recognised feature of abetalipoproteinaemia? Available marks are shown in brackets 1 ) a high serum cholesterol [0] 2 ) palmar xanthomas [0] 3 ) advanced atherosclerotic vascular disease [0] 4 ) abnormal red blood cell morphology [100] 5 ) Severe mental retardation [0] -------------------------------------------------------------------------------Comments: Acanthocytes are seen in abetalipoproteinaemia. Retinitis pigmentosa is seen in abetalipoproteinaemia. Neurodegenerative changes are seen such as ataxia but IQ is normal. A 70 year-old female presents with a six month history of frontal headaches and weight loss. On examination a bitemporal hemianopia was noted. Which of the foll owing suggest the diagnosis of a pituitary tumour?

Available marks are shown in brackets 1 ) 9am cortisol concentration of 350 nmol/L (200 - 700) [0] 2 ) LH concentration of 44 uL (>30) [0] 3 ) Prolactin concentration of 580 mU/L (50-550) [100] 4 ) Random growth hormone concentration 1.2 mU/L (< 1) [0] 5 ) TSH concentration of 3.8 mU/L (0.5 - 4.5) [0] -------------------------------------------------------------------------------Comments: The raised prolactin would most likely reflect stalk compression in this patient . Otherwise, the normal cortisol would be unhelpful as is the normal TSH. The el evated LH is a reflection of this patient being menopausal. GH concentrations ar e frequently undetectable as it is released episodically usually during the nigh t. A 70 year-old female presents with a six month history of frontal headaches and weight loss. On examination a bitemporal hemianopia was noted. Which of the foll owing suggest the diagnosis of a pituitary tumour? Available marks are shown in brackets 1 ) 9am cortisol concentration of 350 nmol/L (200 - 700) [0] 2 ) LH concentration of 44 uL (>30) [0] 3 ) Prolactin concentration of 580 mU/L (50-550) [100] 4 ) Random growth hormone concentration 1.2 mU/L (< 1) [0] 5 ) TSH concentration of 3.8 mU/L (0.5 - 4.5) [0] -------------------------------------------------------------------------------Comments: The raised prolactin would most likely reflect stalk compression in this patient . Otherwise, the normal cortisol would be unhelpful as is the normal TSH. The el evated LH is a reflection of this patient being menopausal. GH concentrations ar e frequently undetectable as it is released episodically usually during the nigh t. An 80 year-old woman with type 2 diabetes mellitus is referred with weakness. Sh e had been taking bendrofluazide, digoxin and tolbutamide. On examination she ha d a temperature of 37.8C, a pulse of 98 bpm in atrial fibrillation, and a blood p ressure of 118/72 mmHg. Investigations show: Sodium 121 mmol/L (137 - 144) Potassium 3.3 mmol/L (3.5 - 4.9) Urea 4.8 mmol/L (2.5-7.5) Creatinine 83 micromol/L (60 - 110) Glucose 15.2 mmol/L (3.0 - 6.0) chest X-ray normal What is the most likely cause for the hyponatraemia? Available marks are shown in brackets 1 ) Addison's disease [0] 2 ) bendrofluazide (bendroflumethiazide) [100] 3 ) hyperglycaemia [0] 4 ) syndrome of inappropriate secretion of antidiuretic hormone 5 ) tolbutamide [0]

[0]

--------------------------------------------------------------------------------

Comments: This patient has hyponatraemia and hypokalaemia. This is probably due to the ben drofluazide which should be stopped. It is unlikely to be SIADH ,of which tolbut amide is a cause, as the hypokalaemia is not typically associated. Her hyperglycaemia with an osmotic diuresis would cause dehydration. Addison s dis ease would be associated with hyperkalaemia, hypotension and elevated urea. A 17 year-old female is referred following a visit to the dentist where marked e rosion of her teeth was noted. She was entirely asymptomatic and her only medica tion was the oral contraceptive pill. On examination her blood pressure was 110/ 70 mmHg and her body mass index was 21.5 kg/m2 (18 - 25). Investigations sodium 135 mmol/l potassium 2.1 mmol/l bicarbonate 42 mmol/l urea 2.6 mmol/L corrected calcium 2.08 mmol/ alkaline phosphatase 201 iu/l (50-110) What is the most likely diagnosis? Available marks are shown in brackets 1 ) Bulimia nervosa [0] 2 ) Conn's syndrome [0] 3 ) Laxative abuse [0] 4 ) Pregnancy [0] 5 ) Primary hypoparathyroidism [100] -------------------------------------------------------------------------------Comments: This patient has tooth erosion associated with hypokalaemic metabolic alkalosis and hypocalcaemia. This suggests a diagnosis of hypoparathyroidism. Conn's is un likely in this age group, is not associated with tooth erosion and hypertension would be expected. Bulimia like laxative abuse would be associated with hypokala emia but the hypocalcaemia with raised alkaline phosphatase would not be expecte d. Early pregnancy would not fit this picture. Low uptake of 123I on the thyroid uptake scan would be an expected finding in: Available marks are shown in brackets 1 ) A solitary toxic nodule [0] 2 ) A multi-nodular toxic goitre [0] 3 ) Amiodarone induced thyrotoxicosis type 1 4 ) DeQuervain's thyroiditis [100] 5 ) Graves' thyrotoxicosis [0]

[0]

-------------------------------------------------------------------------------Comments: DeQuervain's thyroiditis is classically associated with low or absent 123I (the 131 radioactive isotope of iodine) uptake. The others will have high or normal u ptake. In particular type 1 amiodarone induced thyrotoxicosis may be distinguish ed from the thyroiditis of type 2 by the normal or high uptake scan.

A 45-year-old solicitor had an onset of severe, crushing, while attending a football match. He collapsed on his way Cardiorespiratory Resuscitation was begun immediately and l in Casualty where an endotracheal tube was inserted and ined on 100% oxygen. Investigations revealed: pH 7.13 PaO2 560 mmHg PaCO2 18 mmHg Bicarbonate 5.8 SaO2 98%

substernal chest pain to the car. Bystander continued until arriva ventilation was mainta

Based on these laboratory values, which of the following statements best describ es his current pathophysiology? Available marks are shown in brackets 1 ) He is demonstrating a primary respiratory alkalosis [0] 2 ) He probably developed a large right to left intracardiac shunt 3 ) His anion gap is probably normal [0] 4 ) His oxyhemoglobin curve is shifted to the left [0] 5 ) His pulmonary artery pressure is probably elevated [100]

[0]

-------------------------------------------------------------------------------Comments: This young patient with severe central chest pain has probably arrested due to m yocardial infarction and arrhythmia. His gases reveal high PO2 following 100% O2 but severe acidosis due to the arrest and lactic acidosis thus anion gap would be high. He does not have a primary ventilatory failure as his PO2 is high. Ther e is no left to right shunting and high pulmonary pressures would be expected af ter this arrest scenario. An 18 year-old female is admitted with a depression of her conscious level. Arte rial blood gas analysis revealed: pH 7.26 pO2 12.1 kPa pC02 3.9 kPa standard bicarbonate 14.7 mmol/L Which one of the following would account for these results? Available marks are shown in brackets 1 ) Analytical error [0] 2 ) Metabolic acidosis [100] 3 ) Persistent vomiting [0] 4 ) Respiratory acidosis [0] 5 ) Respiratory alkalosis [0] -------------------------------------------------------------------------------Comments: This patient has a metabolic acidosis with an effort at respiratoty compensation as reflected by elevated pO2 and reduced pCO2. This could be due to poisoning o r a condition such as Diabetic ketoacidosis. Vomiting would cause a metabolic al kalosis.

With respect to lipoprotein transport and metabolism in the body, the following statements are correct EXCEPT: Available marks are shown in brackets 1 ) Arterial walls contain cells with LDL receptors. [0] 2 ) Cholesterol is required for the formation of red blood cell membranes. ] 3 ) Chylomicrons are synthesized in the liver. [100] 4 ) HDL is assembled in the extracellular space. [0] 5 ) VLDL transformation to LDL occurs in adipose tissue. [0]

[0

-------------------------------------------------------------------------------Comments: Chylomicrons are formed in the gut from exogenous triacylglycerols and cholester ol. They are released into the lymph and thereby enter the blood.They are not fo rmed in the liver. Which of the following is true concerning a 68 year old male with type 2 diabete s diagnosed with type IV renal tubal acidosis? Available marks are shown in brackets 1 ) Aminoaciduria would be expected. [0] 2 ) Fludrocortisone treatment is effective [100] 3 ) Increased Glomerular filtration rate is expected. 4 ) Increased urinary bicarbonate would be expected. 5 ) Normal renal handling of K+ and H+ [0]

[0] [0]

-------------------------------------------------------------------------------Comments: H+ secretion, sodium reabsorption and ammonia production diminishes. RTA 4 is in effect hyporeninaemic hypoaldosteronism or failure of aldosterone action and th us helped treated with mineralocorticoids. It is usually seen in chronic renal d isease and hence low GFR and particularly. Aminoaciduria and increased urine bic arbonate are features of RTA types 1 and 2. A 40-year-old female who has been prescribed thyroid replacement therapy has rou tine thyroid function tests. On examination she appeared clinically euthyroid wi th no abnormal findings. Her TFTs revealed: TSH 3.2 mU/L (0. 35 - 5.0) Total T4 20 nmol/L (55 - 144) free T4 2.6 pmol/L (9 - 24) Total T3 2.5 nmol/L (0. 9 - 2.8) Which one of the following statements is correct? Available marks are shown in brackets 1 ) Her thyroid hormone replacement is adequate [100] 2 ) Investigation of pituitary function is required [0] 3 ) She has tertiary hypothyroidism [0] 4 ) She has a thyroiditis [0] 5 ) She has sick euthyroid syndrome [0] -------------------------------------------------------------------------------Comments:

This question is extremely poorly presented as no one, except for the RCP, measu res total thyroid hormone concentrations. However, this patient has normal TSH, low total T4 with normal total T3 and really low free T4 which would suggest tha t she is taking T3 as replacement therapy. This may explain why no fT3 figures a re provided. Consequently she is receiving adequate replacement as reflected by the normal TSH. She does not have sick euthyroidism as it states in the run in t hat these measurements were routine. Although TSH is normal and tT4 and fT4 low, secondary/tertiary hypothyroidism would not explain the plum normal total T3 co ncentration. She may well have had a thyroiditis such as Hashimoto s to have given her the hypothyroidism originally but she is now on replacement therapy and the former would not explain her TFTs. A 70 year old woman is referred by a GP to the surgeons with a breast lump. She was asymptomatic but her investigations reveal: Corrected calcium 2.72 mmol/L (2.2 - 2.6) Phosphate 0.80 mmol/L (0.8-1.4) Alkaline phosphatase 110 U/L (20 - 95) PTH concentration 5.1 pmol/L (0.9-5.4) What is the most likely diagnosis? Available marks are shown in brackets 1 ) bony metastases [0] 2 ) chronic vitamin D excess [0] 3 ) ectopic PTH related peptide (PTHrp) secretion 4 ) multiple myeloma [0] 5 ) primary hyperparathyroidism [100]

[0]

-------------------------------------------------------------------------------Comments: This patient has hypercalcaemia with a lowish phosphate concentration but an ina ppropriately normal PTH concentration suggesting hyperparathyroidism which is a relatively common disorder amongst elderly females. The story of the breast lump in this case is endeavouring to throw the candidate. Vitamin D excess would be expected to cause an elevated Phosphate. An Afro-Carribean male aged 48 years presents with gradual onset of exertional d yspnoea, non productive cough, malaise, weight loss and polyarthralgia. Schirmer s test indicates a dry eye. X-ray of the hand shows punched out osteopenic lesio ns. Which of the following investigation is unlikely to be helpful in establishi ng the diagnosis of this condition: Available marks are shown in brackets 1 ) Serum calcium [0] 2 ) Serum phosphorus [0] 3 ) Urea and electrolytes [0] 4 ) Thallium Scan [100] 5 ) Quantitative Immunoglobulins. [0] -------------------------------------------------------------------------------Comments: This condition is sarcoidosis. Serum calcium, Serum phosphorus, Chem7 and Chem 2 0 and Quantitative Immunoglobulins are all used in establishing the diagnosis. G

allium scan is helpful in sarcoidosis. (Radiology of extrathoracic sarcoid ...) Gallium scan vs. Thallium scan. Gallium scan (radioactive 67Ga) is used to detect inflammation - such as in infl ammatory disorders or malignancy. Thallium (radioactive 201Tl) is a potassium analogue and is used to demonstrate areas of poor perfusion. It is particularly used in cardiology to detect areas o f ischaemia. Which one of the following is a feature of the VIPoma syndrome? Available marks are shown in brackets 1 ) Alkalosis [0] 2 ) Hypoglycaemia [0] 3 ) Hypokalaemia [100] 4 ) Increased gastric acid seceretion [0] 5 ) Provocation of VIP release by somatostatin

[0]

-------------------------------------------------------------------------------Comments: a, b,d,e: All opposite to what is expected. VIPOMA -Features vasoactive intestin al polypeptide secreting tumour, mainly pancreas rarely ganglioneuroblatoma (sym pathetic chain or adrenal cortex), secretory diarrhoea ('pancreatic cholera'), w eight loss, dehydration, abdominal colic, cutaneous flushing, raised plasma VIP, urea+Calcium, raised plasma pancreatic polypeptide, hypokalaemic acidosis (loss of alkaline secretions), achlorydia, mildly raised glucose, normal functions of VIP. -increased intestinal secretion water and electrolytes -peripheral vasodil ation -inhibits gastric acid secretion -potentiates acetylcholine action on sali vary glands Serum biochemistry of a 72 year old man revealed calcium of 1.98 mmol/l and phos phate of 0.55 mmol/l with an alkaline phosphatase of 450 IU/l.Which of the follo wing is the most likely explanation for his biochemistry? Available marks are shown in brackets 1 ) Osteoporosis [0] 2 ) Osteomalacia [100] 3 ) Pagets Disease [0] 4 ) Secondary Hyperparathyroidism [0] 5 ) Renal failure [0] -------------------------------------------------------------------------------Comments: Osteomalacia is associated with low calcium and phosphate with raised alkaline p hosphatase. Serum biochemistry is normal in osteoporosis. Pagets disease is asso ciated with normal calcium and phosphate with raised alkaline phosphatase. In re nal failure when tertiary hyperparathyroidism sets in there is low calcium with raised phosphate. Similarly phosphate tends to be high in secondary hyperparathy roidism.