Clinical Biochemistry Flashcards

1
Q

What indicates a carcinoid syndrome?

A

High plasma chromogranin a conc

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2
Q

Which substances have 5HIAA in them?

A

Walnut chocolate
Tomoatoes aubergines avocado
Plums bananas kiwi and pineapple

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3
Q

Why happens in carcinoid tumours?

A

Starts in GIT, seretonin is metabolised,

To show symptoms liver has to be dysfunctional e.g due to liver metastasis

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4
Q

How to detect a carcinoid?

A

Somatostatin receptor scintography

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5
Q

Where is plasma chromagranin A present?

A

In secretory vesicles

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6
Q

What can be measured of ADH?

A

Copeptin, a cleavage product

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7
Q

What else is a tumour marker?

A

Serum calcitonin, from medullary c cells thyroid

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8
Q

ADH and oxytocin are released where?

A

Inferior hypophysis artery

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9
Q

Circadian rhythm of pituitary hormones is controlled by?

A

Supraoptic nucleus of hypothalamus

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10
Q

What can cause neural tube defects?

A

Genes, environment plus folate deficiency, maternal T1DM, and use of certain anticonvulsants

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11
Q

How do you screen for neural tube defects?

A

Maternal serum alpha fetoprotein

Fetal ultrasound

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12
Q

Alpha fetoprotein is produced by?

A

Fetal liver and yolk sac

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13
Q

What is alpha fetoprotein in adults a marker of?

A

Teratocarcinoma

New hepatocytes, liver regeneration, heaptocellular carcinoma

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14
Q

Too low alpha fetoprotein then?

A

Downs

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15
Q

Too high alpha fetoprotein then?

A

Spina bifida

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16
Q

Low sodium results in

A

Cramps decreased reflexes and encephalopathy

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17
Q

High sodium results in?

A

Weakness increased reflexes tremor encephalopathy

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18
Q

Low potassium results in?

A

Weakness normal reflexes paresthesis

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19
Q

High potassium results?

A

In decreased reflexes weakness

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20
Q

Low calcium results in ?

A

Tetany

Encephalopathy

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21
Q

High calcium results in ?

A

Weakness increased reflexes encephalopathy

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22
Q

Low mg results in?

A

Tetany increased reflexes and encephalopathy

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23
Q

High magnesium results in

A

Flaccid paralysis

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24
Q

Low phosphate results in?

A

Flaccid paralysis

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25
Q

Hyperventilation can cause?

A

Hypocaclaemia, because more calcium binds to albumin as there is less hydrogen

Hence respiratory alkalosis

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26
Q

Fabry disease?

A

Don’t have enzymes to break down lipids

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27
Q

Refsum’s disease?

A

Weakness or numbness of hands and feet, peripheral neuropathy

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28
Q

Whippets, nitrous oxide use?

A

Degeneration of spinal cord and peripheral neuropathy because it coverts b12 from active to inactive form

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29
Q

What is the role of active b12?

A

Coenzyme for methionine synthase, to allow generation of methyl groups for synthesis of several products including rna dna and myelin

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30
Q

Neuropathy due to b12 commonly seen in?

A

Older people with macrocyclic anaemia, antibodies against gastric parietal cells and intrinsic factor

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31
Q

Symptoms of meningisim?

A

Headache, stiffness, photophobia nauseau and vomiting

32
Q

If you have inflammation of meninges what will you find?

A

Blood in CSF, either from SAH or traumatic tap

Will show as oxyhaemogobin or metabolised to bilirubin

33
Q

How should you label CSF?

A
  1. White top universal specimen for micro 10 drops
  2. White top univ specimen for biochemical 20 drops
  3. White top for micro to ensure cell count decreasing 10 drops
34
Q

What else should you check in CSF?

A

Glucose CSF to serum is 0.6

Protein bilirubin, lactate xanthocromia and oligoclonal bands

35
Q

Why a 12 hour delay before lumbar puncture?

A

Conversion from haemoglobin to bilirubin

36
Q

What will you find in MS?

A

Positive CSF oligoclonal bands

37
Q

How are tangles formed?

A

Hyper phosphorylated tau, which is needed for micro tubules, loses its ability to bind to micro tubules and stimulate their assembly leading to neuronal damage

38
Q

How are plaques formed?

A

Ab deposits , ab42

39
Q

What is combo for Alzheimer’s?

A

Low Ab42 and elevated tau in CSF

40
Q

Importance of ApoE?

A

ApoE4 tend to promote plaque formation

APoE2 inhibits plaque formation

41
Q

What investigations would you do in dementia?

A
FBC and ESR- anaemia and vasculitis
Calcium- hypo and hyper
Folate and b12
Hba1c- diabetes 
Liver function tests
Sodium potsssium creatinine- CKD electrolyte disorder
Thyroid function tests- hypo
Syphilis and hiv serology
Systemic lupus
42
Q

Drippy nose, what would you check for?

A

Test for asialotransferrin, b transferrin- high conc

Low in plasma, high in CSF

43
Q

What can cause altered consciousness?

A
Alcohols
Epilepsy, electrolyte disorders and hepatic encephalopathy 
Infection
Opiates, overdose and oxygen 
Uraemia
Trauma, toxins, tumour, temp
Insulin, in born errors of met
Poisoning psychogenic 
Space occupying lesion, stroke, seizure shock
44
Q

How to check for cerebral hypoxia?

A

Serum neurone specific enolase NSE

Glycolysis enzyme released following neuronal cell death

Anything above 16 micro gram/l

45
Q

What can cause cerebral oedema?

A

Rapid reduction of plasma glucose in treatment hyperosmolar hyperglycaemia with insulin or diabetic ketoacidosis

Hyponatraemia:

Excessive IV administration of hypotonic fluids
Excessive water intake due to ADH- siadh
Ectopic ADH secretion
MDMA

46
Q

Causes of encephalitis

A

Viral - PCR
• Person-to-person eg herpes simplex, measles, mumps etc
• Animal eg ticks (tick-borne encephalitis), dog (rabies)
• Other pathogens – eg toxoplasma, amoebae
Auto-immune:
• Post-infectious - acute disseminated encephalomyelitis (ADEM)
• Tumour associated - Hu, Yo, Ri, Ma, Amphiphysin, CRMP5/CV2, Tr
• LGI1 (leucine-rich glioma inactivated 1) or CASPR2 (contactin-associated protein 2) causing ‘limbic encephalitis’.
• N-methyl-D-aspartate (NMD

47
Q

Glutamic acid decarboxylase anti GAD Is used when?

A

Stiff person syndrome

48
Q

Voltage gated ca2 channel antibody used when?

A

Cerebellar ataxia lambert eaton

49
Q

Anti ganglioside gm1 used when?

A

Guillian barre and miller fisher

50
Q

Copper deposition found in?

A

Wilsons

51
Q

Accumulation of mucopolysaccharides

A

Hurler syndrome

52
Q

Accumulation of sphingolipids?

A

Gaucher

53
Q

Anxiolytics drugs is?

A

Diazepam

54
Q

Antipsychotic drugs?

A

Chlorpromazine, haloperidol, respiridone, clozapine

55
Q

Mania and bipolar drugs?

A

Lithium

56
Q

Antidepressants?

A

Amitypilline and fluoxetine

57
Q

Analgesics?

A

Paracetamol, ibuprofen, codeine phosphate morphine

58
Q

Anti migraine drugs?

A

Pizotifen

59
Q

Antiepileptics?

A

Carbamazepine, phenobarbitone, phenytoin, sodium valproate

60
Q

Parisians drugs?

A

Levodopa
Entacapone selegiline
Ropinirole

61
Q

Dementia drug?

A

Donepezil

62
Q

Anaesthetics?

A

Lidocaine, propofol

63
Q

Opioid antagonist?

A

Naloxone

64
Q

Neuromuscular blocking drugs?

A

Suxamthonium

65
Q

Target therapeutic range is?

A

10-20 mg/l

66
Q

What does phenytoin do?

A

Activates enzymes that inactivate vit d, so less calcium , hence elevated PTH

67
Q

Consequences of hyperprolactinaemia

A

Diminished ejaculator volume oligospermia lots of libido or sexual dysfunction galactorrhoea infertility gynaecomastia oligoria amenorrhea atrophic changes in vagina mucosa reduced vagina lubrication
Acne hirsutism

68
Q

Therapeutic window for lithium?

A

0.4-1 mmol/l

69
Q

Toxicity of lithium?

A

Acute vomiting and diarrhoea dizziness

chronic course tremor hyperflexia nystagmus ataxia altered mental state

70
Q

Endocrine effects of lithium?

A

Hypothyroidism

Decreased sensitivity to ADH
Causing polyuria and hypernatraemia

Adjust calcium receptors in PTh glands leading to increased PTH secretion and hypercalcaemia

71
Q

Lithium monitoring?

A

Every 3 months
Renal. Function
Thyroid
Serum calcium,

72
Q

What can induce hypogonadism?

A

Opiates, reduced gonadotropin secretion

hyperprolactinaemia

Antiepileptic increase SHGB and suppress axis

73
Q

Decreased conc of pseudocholinesterase can cause?

A

Unable to breathe and move on their own because suxamethonium and mivacurim mimic action of acetycholine but slowly

74
Q

Tests for pseudocholinesterase deficiency?

A

Dibucaine and fluoride - inhibitors

75
Q

Pseudocholinesterase deficiency happens?

A

Autosomal recessive in BCHE gene.
I in 3200 to 5000
Persian Jews and Alaska natives