Chem Path hard to recall Flashcards
What liver enzyme is raised after MI?
AST
Which enzyme is markedly raised in obstructive jaundice along with direct bilirubin?
ALP
Which liver enzyme is most raised in alcohol abuse?
GGT
What test is used for Paroxysmal nocturnal haemoglobinuria (PNH)?
Ham’s test
What Ab can be looked for in T1DM?
Anti-GAD
Define impaired glucose tolerance
Fasting: <7mmol/L
2hr: 7.8 - 11.1mmol/L
Which liver enzyme increases in pregnancy?
ALP
Lipid soluble drugs require metabolism by the liver in two phases. What is Phase I?
Oxidation by cytochrome P450
Features of digoxin toxicity?
Arrhythmia
Anorexia, nausea and vomiting and occasionally, diarrhoea
Confusion especially in the elderly
Yellow vision (xanthopsia), blurred vision and photophobia
Name a drug which decreased excretion, increased plasma concentration and increased risk of toxicity may occur when this taken in conjunction with thiazide diuretics
Lithium
What are 2 breakdown products of cocaine?
EME = ecgonine methyl ester BE = benzoylecgonine
Symptoms of ecstasy OD?
Hyperthermia Dilated pupils Agitation Confusion Raised urea and creatinine Raised myoglobin Hyponatraemia
What can be tested in urine for heroin/opioid detection?
6-MAM
What Tx can be used for beta blocker OD?
IV atropine
Glucagon
Symptoms of TCA OD?
Drowsy Tachycardia Wide QRS Dilated pupils Hyperreflexia
Symptoms of salicyclate OD?
Hyperventilation Nausea Sweating Ringing in the ears Metabolic acidosis
What sample is required for use with gas chromatography mass spectroscopy?
Blood sample
Which technique can be used to test for benzodiazepines and various antipsychotic drugs?
Liquid chromotography
Which technique can be used to analyse samples of stool, liver and also urine?
Thin layer chromotography
Which drug is not excreted into saliva?
THC
What is Nelson’s syndrome?
An enlargement of an adrenocorticotropic hormone-producing tumour in the pituitary gland, following surgical removal of both adrenal glands in a patient with Cushing’s disease
Levels of which steroid are raised in the serum of CAH patients?
17-Hydroxyprogesterone
Increased levels of what hormone are seen in the urine of CAH patients?
Pregnanetriol
The sodium and potassium pattern seen in CYP21 deficiency?
Hyponatreamia with Hyperkalaemia
How do you calculate creatinine clearance?
Creatine clearance = (creatinine’s urine concentration)* (Vol) / (plasma creatinine concentration)
What is the gold standard for measuring glomerular filtration rate (GFR)
Inulin
What is A good indicator of renal function?
Serial creatinine readings
What enzyme is Useful in staging and monitoring treatment of extracapsular spread of prostatic carcinoma?
Acid phosphatase
Which enzyme rapidly rises post myocardial infarction but then rapidly declines and is a useful marker of reinfarction?
Creatine Kinase (MB)
A 3 year old unimmunised boy presents with Mumps. Which enzyme is likely to be raised?
Amylase
A 19 year old African boy presented with cervical lymph nodes, 3 month history of night sweats and a 3kg weight loss. Lymph node biopsy showed the presence of Reed-Sternberg cells loss. Following chemotherapy which enzyme would you expect to be elevated?
LDH
Organophosphonate poisoning symptoms? (SLUDGE)
Salivation Lacrimation Urination Defecation GI upset Emesis
Antibodies associated with autoimmune hepatitis?
ASMA
ANA
Which enzyme is most likely to be raised in autoimmune hepatitis?
AST
Which enzyme is most likely to be raised in PBC?
ALP
SCID is frequently caused by a deficiency in which enzyme?
Adenosine deaminase
A worried mother brings her obese 12 year old son to the GP, saying that he avoids exercise and has been recently found to be skipping his PE lessons. When confronted about this, the boy claimed that ‘it hurts when he exercises’. The skeptical GP was about to say ‘no pain, no gain’, when he remembered a lecture in medical school about McArdle’s glycogen storage disease (type V), which causes stiffness following exercise. He referred the boy for a muscle biopsy, which confirmed a deficiency in an enzyme involved in glycogen metabolism. Name this enzyme.
Mycophosphorylase
Fabry’s disease occurs due to an X-linked disorder of glycolipid metabolism due to deficiency of which enzyme?
Galctosidase A
A 10 year old boy is brought by his mother to your clinic. He is very thin, but has a distended abdomen. What is it that his diet does not contain to cause this?
Protein
A 40 year old woman is brought in by her husband. He explains that she has started getting up during the night and going for walks and then forgetting her way home. She says she has terrible diarrhoea day and night and she wakes to go to the toilet. On examination she has a tremor and you see red scaly patches on her skin. Which vitamin is she most likely to be deficient in?
Niacin
A 10yr old female who recently emigrated from south East Asia presents to A&E with kidney stones. While talking to the parents it is noted that she has particular problems seeing in dim light. What vitamin deficiency does she have?
Vitamin A
32 year old female presented with weight loss and anxiety. The thyroid gland was enlarged, firm, fleshy and pale, infiltrated by lymphocytes. Askanazy cells were noted.
Hashimoto’s thyroiditis
A 12 yr old male presents with 1/7 of fever. Thyroid swelling and tenderness on palpation was noted. Histologically, the gland was infiltrated by neutrophils and lymphocytes. This child had not been vaccinated against the MMR. Diagnosis?
Giant cell thyroiditis
What is the recommended therapy used in an attack of acute intermittent porphyria?
Haem arginate
Anti-inflammatory drug that is contraindicated in patients with porphyria?
Diclofenac
Drug that can result in chronic porphyria?
Alcohol?
Drug recommended for management in acute attacks of anxiety.
Diazepam
A second drug that is contraindicated in patients with porphyria that is not an NSAID
Co-trimoxazole
Autosomal dominantly inherited porphyria with neurovisceral manifestations only, resulting from porphobilinogen (PBG) deaminase deficiency.
Acute intermittent porphyria
Neurotoxic product(s) of heme breakdown producing neurovisceral damage in certain porphyrias
5-aminolevulinic acid
Autosomal dominantly inherited (or spontaneous mutation) porphyria with cutaneous manifestations only, resulting from uroporphyrinogen decarboxylase deficiency
Porphyria cutanea tarda
Enzyme that catalyses the rate-limiting step of heme breakdown
ALA synthase
Product(s) of heme breakdown resulting in photosensitivity (i.e. cutaneous) damage in certain porphyrias
Activated porphyrins and oxygen free radicals
In diabetics, which substance is formed in increased quantities in cells that do not require insulin for glucose uptake? It is injurious to those cells:
Sorbitol
2 examples of localised amyloidosis?
Alzheimer’s
T2DM
What 3 hormones are given in combined pituitary function test?
GnRH
TRH
Insulin
A 6 year old boy presents with episodic abdominal pain and recurrent acute pancreatitis. The plasma is found to have a milky appearance and chylomicrons are found in the plasma following a period of fasting. What deficiency does he have?
Lipoprotein lipase deficiency
Lipid profile in alcohol abuse and why?
Decreases fatty acid oxidation
High HDL
High VLDL
Lipid profile in nephrotic syndrome and why?
Apolipoprotein A is lost (hence low HDL) and there is a compensatory increase in apolipoprotein B100 hence
High VLDL
High LDL
Lipid profile in diabetes and renal failure and why?
Not enough active lipoprotein lipase to chop off triglyceride
High VLDL
Low HDL
Lipid profile in hypothyroidism and why?
Apo receptor on liver doesn’t function properly
High VLDL
High LDL
Function of lipoprotein lipase?
enzyme present on vascular endothelium,
etc, which is involved in the breakdown of Triglycerides (TG) from lipoproteins such as VLDL into fatty acids and glycerol so that TG can be taken into cells
Function of cholesterol ester transferase?
transfer cholesterol esters from HDL to IDL or LDL
Lipid profile in biliary obstruction?
high VLDL, LDL and HDL
Which molecule is formed by the gut after a meal and is the main carrier of dietary triglycerides?
Chylomicron
What is the smallest lipoprotein which carries cholesterol from extra-hepatic tissues to the liver for excretion?
HDL
Which molecule is present in the fasting state in cases of lipoprotein lipase deficiency?
Chylomicron
The first intermediate formed after VLDL particles synthesised by the liver are degraded?
Intermediate density lipoprotein
How do daily requirements of water for neonates compare with those of adults?
> 6 times adult requirements
High fluid intake in neonates during the first week of life is associated with increasing frequency of which condition.
Necrotising enterocolitis
Pseudo vitamin D deficiency 1 is associated with which defect.
Defect in renal hydroxylation
What could be going on in a child with x-ray features of vit D deficiency (metaphyseal flaring and osteopaenia) but a LOW ALP?
Hypophosphatasia
A 3-week-old male is seen by a paediatrician because of severe jaundice that appeared at birth and has been worsening ever since. Dx?
Crigler-Najjar syndrome
A young boy presents to his GP with jaundice. He is also found to have haemoglobinuria, splenomegaly and anaemia. His mother reveals that he was jaundiced at birth and needed a blood transfusion. Dx?
G6PD deficiency
A 15-month-old boy is brought to the paediatric clinic by his parents because of delayed dentition, poor growth and development, frequent crying, weakness, and constipation. Dx?
Rickets
A 18 month old male is brought to the paediatrician by his mother because of repeated, self-mutilating biting of his fingers and lips and delayed motor development. The patient’s mother has also noticed abundant, orange-coloured “sand” (uric acid crystals) in the child’s nappies. Dx?
Lesch-Nyhan syndrome
What 2 things does the Guthrie test check for?
PKU
Hypothyroidism
First line screen for inherited metabolic disorders?
Plasma and urine amino acids
A 2-month Canadian neonate presents with failure to thrive, jaundice and sepsis. Which inherited metabolic disorder might he have?
Type 1 tyrosinaemia
A male infant presents with failure to thrive, neurological signs (including tremor) and tachypnea. From our metabolic disorders screen, which 1st line test is likely to be abnormal?
Plasma ammonia
Likely to have a urea cycle defect
A neonate has seizures, conjugated hyperbilirubinaemia and the 3rd year med student’s clinical observation is that “he looks weird!” From our metabolic disorders screen, which 1st line test is likely to be abnormal and what kind of inborn metabolic disorder might he have?
Very long chain fatty acids
peroxisomal disorder of glycosylation
A post mortem diagnosis of an inborn error of metabolism is investigated in a case of “sudden infant death”. What deficiency is the most likely cause?
Medium chain acyl coA dehydrogenase
A neonate with a history of feeding difficulties presents with jaundice, cataracts and sepsis. What deficiency is the most likely cause?
Galactase-1-phosphate uridyl transferase