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Semester 5 November > Chemical Pathology > Flashcards

Chemical Pathology Flashcards

0
Q

Egs of invasive prenatal screening

A

Amniocentesis
Chorionic villus sampling
Cordocentesis

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1
Q

Egs of non invasive prenatal screening

A

Ultrasound
Doppler studies
MRI
Maternal serum biochem

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2
Q

Tests done on amniotic fluid

A

Karyotyping
DNA
Biochem
Enzyme studies

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3
Q

Possible complications of amniocentesis

A

Miscarriage
Transient fluid leak
Intrauterine infection

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4
Q

When is amniocentesis done

A

15-18 weeks

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5
Q

Routes of chorionic villus sampling

A

Transcervical

Transabdominal

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6
Q

Test done on villus sample

A

Karyotyping
DNA
Enzyme analysis

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7
Q

Possible complications of chorionic villus sampling

A

Miscarriage
Bleeding
Infection
Limb defects

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8
Q

When is villus sampling done

A

8-13 weeks

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9
Q

Function of hCG

A

Stimulate corpus luteum to continue producing progesterone in early preg before placenta takes over.

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10
Q

What produces hCG

A

Syncytiotrophoblasts

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11
Q

What causes increase in hCG

A

Pregnancy
Trophoblastic disease
Ectopic pregnancy
Down’s syndrome

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12
Q

hCG alpha subunit common to..

A

TSH, FSH, LH

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13
Q

In hCG intermediate range 5-25 then..

A

Do serial measurements.
If more than double per day = viable
If not, do ultrasound = ectopic/ spontaneous abortion.

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14
Q

When is triple test done

A

15-23 weeks (in second trimester)

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15
Q

What is triple test

A

AFP, unconjugated oestriol e3, hCG

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16
Q

What is added for quad test

A

Dimeric inhibin A

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17
Q

Where is AFP produced

A

Fetal yolk sac then liver

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18
Q

Causes of increased AFP

A

NTD, abdo wall defect, fetal renal disease, oligohydramnios, multiple preg, fetal death, incorrect dates, tumour (HCC), duodenal/ oesophageal atresia.

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19
Q

Causes of AFP decrease

A

Down’s syndrome

Edward’s syndrome

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20
Q

What organs need to be functional to produce oestriol E3

A

Fetal adrenal, liver and placenta

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21
Q

Causes of oestriol E3 decrease

A

Fetal death
Disruption in synthetic pathway
Chromosome abnormality

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22
Q

What produces inhibin A

A

Placenta

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23
Q

Cause of increase inhibin A

A

Down’s syndrome

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24
Q

What is PAPP-A produced by

A

Placenta

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25
Q

What causes PAPP-A increase

A

Coronary artery syndrome

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26
Q

Early decrease in PAPP-A..

A

Down’s syndrome

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27
Q

When best to do AFP

A

16-18 weeks

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28
Q

What can be tested in cell free DNA

A

Sex (7 weeks)

Fetal RhD

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29
Q

Fx CSF

A

Support
Shock absorption
Transport of substances

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30
Q

What changes BBB permeability

A

Inflammation
Immaturity
Toxins
Neovascularisation (tumour, ischemia, trauma)

31
Q

Protein CSF concentration influenced by..

A

Plasma concentration
BBB permeability
CSF flow (Froins, prolapse disk, abscess)
Multiple sclerosis

32
Q

Markers for major depression

A

Decrease 5HIAA and serotonin

33
Q

Defn xanthochromia

A

Visual diagnosis of bilirubin in CSF

34
Q

Test done to confirm xanthochromia

A

NBA - nett bilirubin absorbance

35
Q

NBA determines

A

Need for angiography

36
Q

Causes of xanthochromia

A

SAH

Very high protein, increase serum bili, meningeal melanoma, hypercarotinaemia, rif therapy, previous traumatic tap.

37
Q

Hypertension increases risk of..

A

Stroke, heart failure, MI, renal failure

38
Q

What inhibits mineralocorticoid receptor

A

Spirinolactone

39
Q

What inhibits ENa channel

A

Amiloride

40
Q

Blood results in hyperaldosteronism

A

Hypernatraemia
Hypokalaemia
Alkalosis

41
Q

Aldo:renin ratio in Conns

A

Increased

42
Q

Tests done in Conns

A

Morning Aldo
Aldo:renin ratio
Saline loading

43
Q

Part of adrenal secreting Aldo

A

Zona glomerulosa

44
Q

Causes of increased cortisol

A

Pituitary adenoma
Adrenal tumour
Drugs
Ectopic Ca (eg bronchus)

45
Q

Mechanism of cushing’s

A

Saturates 11BHSD

Binds mineralocorticoid receptor

46
Q

Tests done in cushing’s

A 
24hr urine
Midnight cortisol (loss of diurnal rhythm)
Low dose dexamethazone suppression test

Find cause = ACTH level (increase = ectopic)

47
Q

How does liquorice increase BP

A

Inhibits 11BHSD causing cortisol to bind mineralocorticoid receptor

48
Q

Where is the defect in Liddle syndrome

A

Beta subunit of ENaC

49
Q

What syndrome is pheochromocytoma associated with

A

Multiple endocrine neoplasia

50
Q

How does pheochromocytoma increase BP

A

Catecholamines cause vasoconstriction and increase cardiac output

51
Q

Investigations done to diagnose pheochromocytoma

A

Serum catecholamines

Urine metanephrine / normetanephrine

52
Q

How is pheochromocytoma localized

A

MIBG scan

(Radioactive adrenalin analogue)

53
Q

What are the renin and Aldo levels like in renal artery stenosis

A

Renin increased

Aldo increased

54
Q

Why are Na levels normal in renal artery stenosis

A

Angiotensin ll increases thirst and ADH which causes water retention - diluting hypernatraemia

55
Q

How do water soluble agents cross the BBB?

A

Paracellular aqueous pathway (through tight junction)

56
Q

How do lipid-soluble agents cross the BBB?

A

Trans cellular lipophillic pathway

57
Q

How do glucose, amino acids and nucleosides cross the BBB?

A

Transport proteins

58
Q

How do insulin and transferrin cross the BBB?

A

Receptor-mediated transcytosis

59
Q

How does albumin and other plasma proteins cross the BBB?

A

Absorptive transcytosis

60
Q

Where to stick needle in LP

A

Between L3 and L4

61
Q

When is CSF lactate increased?

A
  • cerebral hypoxia
  • diffuse meningeal conditions
  • certain IMDs
62
Q

What is a good indicator of BBB permeability?

A

Albumin

63
Q

When is CSF analysed spectrophotometrically

A

High clinical suspicion of SAH but negative CT scan

64
Q

Clinical course of MS

A

Plaque, gliosis, chronic plaque with no myelin

65
Q

Another name for B2 transferrin

A

Asialotransferrin

66
Q

Biochemical markers of primary hyperaldosteronism

A
  • blood k decreased
  • urine potassium increased
  • blood Na mildly increased
  • blood metabolic acidosis
  • blood renin decreased
  • blood aldosterone increased
67
Q

Define apparent mineralocorticoid excess

A

The presence of hypertension, increased Na and bicarb and decreased K
Suppressed renin
Low aldosterone levels

68
Q

Causes of apparent mineralocorticoid excess

A
  • Cushing’s syndrome
  • excessive liquorice ingestion
  • liddle’s syndrome
69
Q

Metabolic derangements in alcohol abuse

A
  • hypertriglyceridaemia
  • hypoglycemia
  • ketosis
  • lactic acidosis
  • hyperuricaemia
70
Q

What does raised IgG imply?

A

Increased local intra theca production

71
Q

Causes of raised IgG

A
  • neurosyphilis

- multiple sclerosis

72
Q

Type of inheritance of hemophilia B

A

X linked recessive

73
Q

Causes of hypertension associated with hypokalaemia

A
  • primary hyperaldosteronism
  • secondary hyperaldosteronism
  • Cushing’s
  • renal artery stenosis
  • apparent mineralocorticoid excess
74
Q

Tests for phaeochromocytoma

A
  • TSH

- metanephrines/ catecholamines

75
Q

Causes of massively elevated CSF protein

A
  • obstruction of CSF flow in the spine
  • tumour
  • abscess
  • disc prolapse
76
Q

What non- pregnant states cause abnormality in AFP?

A

Hepatocellular cancer

Germ cell tumours

Semester 5 November (14 decks)

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