Clinical Sciences Flashcards

1
Q

What is the standard error?

A

SE = SD/square root of the number of samples

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2
Q

What is the relative risk?

A

EER/CER

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3
Q

What is the relative risk reduction?

A

(EER-CER)/CER

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4
Q

What is a type 1 error?

A

Rejecting H0 when null hypothesis is true (false positive)

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5
Q

What is a type 2 error?

A

Accepting H0 when null hypothesis is false (false negative)

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6
Q

What chromosome is DiGeorge syndrome associated with

A

22q

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7
Q

What are the symptoms/signs of DiGeorge syndrome

A

CATCH 22 - cardiac defects, abnormal facies, thymic aplasia, cleft palate, hypocalcaemia

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8
Q

What is the main constituent of pulmonary surfactant and which cells secrete this?

A

Dipalmitoyl phosphatidylcholine - type 2 pneumocytes

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9
Q

What is the treatment of homocystinuria

A

Pyridoxine (Vitamin B6)

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10
Q

What is the most common renal abnormality in Turners syndrome

A

Horseshoe kidney

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11
Q

What inherited syndrome is associated with early onset breast cancer, sarcoma and leukaemia

A

Li-Fraumeni syndrome (p53)

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12
Q

Which condition is associated with short stature and primary amenorrhoea

A

Turners syndrome

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13
Q

What does ELISA testing detect

A

various peptides, proteins, antibodies and antigens (immunological testing)

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14
Q

What do Th1 cells secrete

A

IFN-gamma, IL-2, IL-3

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15
Q

What do Th2 cells secrete

A

IL-4, IL-5, IL-6, IL-10, IL-13

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16
Q

What are Th1 cells involved in

A

cell-mediated response and delayed (type IV) hypersensitivity

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17
Q

What are Th2 cells involved in

A

mediating humoral (antibody) immunity

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18
Q

What pattern of inheritance is colour blindness

A

X-linked recessive

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19
Q

What is the function of leukotrienes

A

bronchoconstriction, mucous production, increase vascular permeability, attract leukocytes

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20
Q

What is in direct contact with the right kidney

A

Right suprarenal gland, Duodenum, Colon

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21
Q

What is in direct contact with the left kidney

A

Left suprarenal gland, Pancreas, Colon

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22
Q

what mode of inheritance is albinism

A

autosomal recessive

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23
Q

What level of evidence is a meta analysis of RCTs

A

Ia

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24
Q

What level of evidence is at least 1 RCT

A

Ib

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25
Q

What mode of inheritance is congenital adrenal hyperplasia

A

Autosomal recessive

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26
Q

What deficiency causes Fabry’s disease

A

Alpha-galactosidase-A

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27
Q

What deficiency causes Tay-Sachs disease

A

Hexosaminidase A

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28
Q

Which nerve root relates to sensation in middle finger and palm of hand

A

C7

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29
Q

Which nerve root relates to sensation in thumb and index finger

A

C6

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30
Q

Which nerve root carries sensation from umbilicus

A

T10 (Belly-butTEN)

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31
Q

Which autosomal dominant condition causes webbed neck, short stature, triangular shaped face and pulmonary valve stenosis but with a normal karyotype?

A

Noonan’s syndrome

32
Q

Which non-parametric test compares paired data ‘before’ and ‘after’

A

Wilcoxon signed-rank test

33
Q

Which non-parametric test compares proportions and percentages

A

Chi-squared test

34
Q

Which non-parametric test is used to compare ordinal, interval, or ratio scales of unpaired data

A

Mann-Whitney U test (U for Unpaired)

35
Q

What is used to prevent acute mountain sickness

A

Acetazolomide

36
Q

What is the management of high altitude pulmonary oedema

A

Descent, oxygen, nifedipine/dexamethasone/acetazolomide/phosphodiesterase V inhibitors

37
Q

What is the management of high altitude cerebral oedema

A

Descent, dexamethasone

38
Q

What kind of primary immunodeficiency is DiGeorge Syndrome

A

T-cell disorder

39
Q

Which primary immunodeficiencies are combined B and T cell disorders

A

SCID, ataxia telangiectasia, Wiskott-Aldrich syndrome

40
Q

What causes learning difficulties, large low set ears, large testicles and hypotonia in men

A

Fragile X syndrome

41
Q

Which receptors do INF-alpha and INF-beta bind to

A

Type 1 receptors

42
Q

Which gene is fibrillin-1 located on

A

Chr 15

43
Q

Which trisomy causes Patau syndrome

A

Trisomy 13

44
Q

Which trisomy causes Edwards syndrome

A

Chr 18

45
Q

What is the most common lipid storage disorder

A

Gaucher’s disease

46
Q

Which lysosomal storage disorder causes cherry red spots on the macula without hepatospenomegaly

A

Tay-Sach’s disease

47
Q

What is the genetic change that occurs in Prader-Willi syndrome

A

Paternal microdeletion of 15q

48
Q

Which X-linked recessive condition causes aggressive behaviour and hyperuricaemia

A

Lesch-Nyhan syndrome

49
Q

Which chromosome is affected in William’s syndrome

A

Chr 7 microdeletion

50
Q

What are the inherited mitochondrial diseases

A

Leber’s optic atrophy, MELAS syndrome, MERRF syndrome, Kearns-Sayre syndrome, sensorineural hearing loss

51
Q

What is the standard deviation

A

SD = square root (variance)

52
Q

What are the common causes of endothelial damage in atherosclerosis formation

A

Hypertension, smoking, hyperglycaemia, hypercholesterolaemia

53
Q

What is the negative likelihood ratio

A

Negative = (1 - seNsitivity)/specificity

54
Q

What is the positive likelihood ratio

A

Positive = sensitivity / (1-sPecificity)

55
Q

Which cancers most commonly spread to the brain

A

Lung, breast, bowel, melanoma, kidney

56
Q

Which brain tumour has central necrosis and a rim that enhances with contrast

A

Glioblastoma multiforme

57
Q

Which brain tumour is located at the falx cerebri/superior sagittal sinus and cause compression of the brain parenchyma

A

Meningioma

58
Q

What are renal stones most commonly composed of

A

Calcium oxalate

59
Q

What GA can pregnant ladies fly until

A

36 weeks for single, 32 weeks for multiple pregnancy

60
Q

What pulse pressure is seen in raised ICP along with bradycardia and irregular breathing

A

Widened pulse pressure

61
Q

Which CD proteins are found on the surface of haematopoietic stem cells

A

CD34

62
Q

Which CD proteins are found on the surface of macrophages

A

CD14, CD40, MHC II, B7

63
Q

Which receptors are nicotinic Ach receptors

A

Ligand-gated ion channel receptors

64
Q

Which receptors are muscarinic Ach receptors

A

G-protein coupled receptors

65
Q

Which receptor type is GABA and Glutamate

A

Ligand-gated ion channels

66
Q

Which receptor type is insulin, IGF and EGFR

A

Tyrosine kinase receptors

67
Q

Which receptor type is ANP, BNP and NO

A

Guanylate cyclase receptors

68
Q

Which type of receptor are adenosine, adrenergic receptors, GH and GABA-B

A

G protein-coupled receptors

69
Q

Which stage of the cell cycle determines cell cycle length

A

G1 phase

70
Q

What is added to proteins by the golgi apparatus to designate their transport to lysosomes

A

Mannose-6-phosphate

71
Q

Where are ribosomes produced

A

Nucleolus

72
Q

What is the function of peroxisomes

A

Catabolism of very long chain fatty acids

73
Q

Where are protein molecules destined for that have been tagged with ubiquitin

A

Proteasomes

74
Q

What is the power of a study

A

The probability of correctly rejecting the null hypothesis when it is false

(1 - probability of a type II error)

75
Q

Where does RNA splicing take place

A

The nucleus