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Clinical Biochemistry Flashcards

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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
Hyperventilation can cause?
Hypocaclaemia, because more calcium binds to albumin as there is less hydrogen Hence respiratory alkalosis
26
Fabry disease?
Don’t have enzymes to break down lipids
27
Refsum’s disease?
Weakness or numbness of hands and feet, peripheral neuropathy
28
Whippets, nitrous oxide use?
Degeneration of spinal cord and peripheral neuropathy because it coverts b12 from active to inactive form
29
What is the role of active b12?
Coenzyme for methionine synthase, to allow generation of methyl groups for synthesis of several products including rna dna and myelin
30
Neuropathy due to b12 commonly seen in?
Older people with macrocyclic anaemia, antibodies against gastric parietal cells and intrinsic factor
31
Symptoms of meningisim?
Headache, stiffness, photophobia nauseau and vomiting
32
If you have inflammation of meninges what will you find?
Blood in CSF, either from SAH or traumatic tap Will show as oxyhaemogobin or metabolised to bilirubin
33
How should you label CSF?
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
What else should you check in CSF?
Glucose CSF to serum is 0.6 | Protein bilirubin, lactate xanthocromia and oligoclonal bands
35
Why a 12 hour delay before lumbar puncture?
Conversion from haemoglobin to bilirubin
36
What will you find in MS?
Positive CSF oligoclonal bands
37
How are tangles formed?
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
How are plaques formed?
Ab deposits , ab42
39
What is combo for Alzheimer’s?
Low Ab42 and elevated tau in CSF
40
Importance of ApoE?
ApoE4 tend to promote plaque formation APoE2 inhibits plaque formation
41
What investigations would you do in dementia?
``` 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
Drippy nose, what would you check for?
Test for asialotransferrin, b transferrin- high conc Low in plasma, high in CSF
43
What can cause altered consciousness?
``` 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
How to check for cerebral hypoxia?
Serum neurone specific enolase NSE Glycolysis enzyme released following neuronal cell death Anything above 16 micro gram/l
45
What can cause cerebral oedema?
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
Causes of encephalitis
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
Glutamic acid decarboxylase anti GAD Is used when?
Stiff person syndrome
48
Voltage gated ca2 channel antibody used when?
Cerebellar ataxia lambert eaton
49
Anti ganglioside gm1 used when?
Guillian barre and miller fisher
50
Copper deposition found in?
Wilsons
51
Accumulation of mucopolysaccharides
Hurler syndrome
52
Accumulation of sphingolipids?
Gaucher
53
Anxiolytics drugs is?
Diazepam
54
Antipsychotic drugs?
Chlorpromazine, haloperidol, respiridone, clozapine
55
Mania and bipolar drugs?
Lithium
56
Antidepressants?
Amitypilline and fluoxetine
57
Analgesics?
Paracetamol, ibuprofen, codeine phosphate morphine
58
Anti migraine drugs?
Pizotifen
59
Antiepileptics?
Carbamazepine, phenobarbitone, phenytoin, sodium valproate
60
Parisians drugs?
Levodopa Entacapone selegiline Ropinirole
61
Dementia drug?
Donepezil
62
Anaesthetics?
Lidocaine, propofol
63
Opioid antagonist?
Naloxone
64
Neuromuscular blocking drugs?
Suxamthonium
65
Target therapeutic range is?
10-20 mg/l
66
What does phenytoin do?
Activates enzymes that inactivate vit d, so less calcium , hence elevated PTH
67
Consequences of hyperprolactinaemia
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
Therapeutic window for lithium?
0.4-1 mmol/l
69
Toxicity of lithium?
Acute vomiting and diarrhoea dizziness chronic course tremor hyperflexia nystagmus ataxia altered mental state
70
Endocrine effects of lithium?
Hypothyroidism Decreased sensitivity to ADH Causing polyuria and hypernatraemia Adjust calcium receptors in PTh glands leading to increased PTH secretion and hypercalcaemia
71
Lithium monitoring?
Every 3 months Renal. Function Thyroid Serum calcium,
72
What can induce hypogonadism?
Opiates, reduced gonadotropin secretion hyperprolactinaemia Antiepileptic increase SHGB and suppress axis
73
Decreased conc of pseudocholinesterase can cause?
Unable to breathe and move on their own because suxamethonium and mivacurim mimic action of acetycholine but slowly
74
Tests for pseudocholinesterase deficiency?
Dibucaine and fluoride - inhibitors
75
Pseudocholinesterase deficiency happens?
Autosomal recessive in BCHE gene. I in 3200 to 5000 Persian Jews and Alaska natives

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