USMLE RX Flashcards

1
Q

features of trptophan deficiency

A

also called niacin
- dementia, diarrhoea, dermatitis
(pellagra)

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2
Q

what mode of inheritance is haemochromatosis

A

autosomal recessive

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3
Q

what mode of inheritance is CF

A

autosomal recessive

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4
Q

what mode of inheritance is hereditary spherocytosis

A

autosomal dominant

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5
Q

what mode of inheritance is glucose-6-phosphate dehydrogenase deficiency

A

x-linked recessive

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6
Q

what vitamin is biotin and when is it found

A

vitamin B7
excessive ingestion of egg whites, antibiotic use

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7
Q

alcoholic hypoglycaemia results due to an increase in what metabolite ratio

A

NADH:NAD
increased NADH to the liver inhibits gluconeogenesis

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8
Q

in alcohol intoxication does serum Na go high or low

A

remains normal
serum osmolality increases with normal Na

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9
Q

presentation of glucose-6-phosphate deficiency

A

infancy
hepatomegaly
hypoglycaemia
lactic acidosis
(unable to convert G6P to glucose which causes accumulation of glycogen in the liver so results in hypoglycaemia. different from other glycogen storage diseases due to hepatomegaly)

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10
Q

presentation of galactosaemia

A

infantile cataracts
hepatomegaly
vomiting and jaundice
occurs upon ingestion of formula milk

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11
Q

presentation of alpha-1,6 - glucosidase (cori disease)

A

hypotonia
wasting
hypoglycaemia
hepatomegaly
elevated CK

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12
Q

primary prevention

A

i.e. vaccines
preventing onset of a disease

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13
Q

seocndary prevention

A

i.e. smear tests
early identification of disease before symptom onset

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14
Q

tertiary prevention

A

treating symptomatic disease

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15
Q

primordial prevention

A

minimising risk factors that put people at risk of disease

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16
Q

quartenary prevention

A

prevents over treatment in patients being treated for a disease, to suggest ethically acceptable alternatives

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17
Q

corkscrew spirochete

A

borellia burgdorferi (lyme disease)
(Ixodes tick)

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18
Q

gram negative bacterium that causes a positive weil felix reaction

A

rickettssia rickettsi

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19
Q

hapten formation stimulating T cell formation

A

non-IgE mediated drug reactions

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20
Q

features of hypomagnaesemia

A

diminished deep tendon reflexes
PR prolongation
associated with CKD

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21
Q

what chromosome is NF found on

A

22

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22
Q

what pharyngeal arch is the ductus arteriosus derived from

A

6th

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23
Q

what is the thyroglossal duct derived from

A

primitive floor of pharynx

24
Q

what are the parafollicular C cells derived from

A

4th pharyngeal arch

25
Q

what are the thyroid follicular cells derived from

A

endoderm

26
Q

what cells degrade histamine and leukotrienes

A

eosinophils

27
Q

what type of immune cell localise along blood vessel walls

A

neutrophils

28
Q

what cells ingest bacteria in the sequestrial immune response

A

macrophages

29
Q

what cells modulate the immune response and develop in the thymus

A

T cells

30
Q

what cells release histamine and heparin

A

basophils

31
Q

name 3 conditions which are examples of type II hypersensitivity reactions

A

goodpastures
graves
rheumatic fever

32
Q

name 2 conditions which are type III hypersensitivity reactions

A

SLE
polyarteritis nodosa

33
Q

name 2 conditions which are type IV hypersensitivity reactions

A

MS
T2DM

34
Q

genetic defect in myotonic dystrophy

A

CTG trinucleotide repeat
autosomal dominant
anticipation

35
Q

presentation of myotonic dystrophy

A

myopathy
muscle weakness
hypotonia
unable to relax muscles
cataract

36
Q

immunoglobulins responsible for warm and cold autoimmune haemolytic anaemia

A

warm IgG (greatly warm)
cold IgM (mega cold)

37
Q

UTI with causative organisms bile insensitivity and haemolysis

A

enterococcus

38
Q

UTI with hydrogen sulphide positive

A

proteus
salmonella

39
Q

kidney stones not visible on XR

A

urate

40
Q

what layers of the skin are affected in psoriasis

A

hyperkeratosis of stratnum corneum and hyperplasia of stratnum spinosum

41
Q

what layer of the skin is affected in lichen planus

A

hyperkeratosis of stratnum granulosum

42
Q

what molecule is responsible for transport from prophase to metaphase in the cell cycle

A

B tubulin

43
Q

function of topiosomerase in cell cycle

A

unwinds DNA for replication

44
Q

function of TP53 in the cell cycle

A

arrests cell progression from G1 to S phase

45
Q

function of Rb in cell cycle

A

arrests cell progression from G1 to S phase

46
Q

pathophysiology of Galactosaemia

A

galactose-1-uridyltransferase deficiency (GALT)
leads to accumulation of galactose-1-phosphate and galactitol

47
Q

derivative of 1st pharyngeal pouch

A

eustachian tube, middle ear, mastoid air cells

48
Q

derivative of 2nd pharyngeal pouch

A

epithelial lining of palatine tonsil

49
Q

derivative of 3rd pharyngeal pouch

A

dorsal - inferior parathyroid
ventral - thymus

50
Q

derivative of 4th pharyngeal pouch

A

dorsal - superior parathyroid
ventral - parafollicular C cells

51
Q

antibiotics to avoid in pregnancy

A

SAFe Children Take Good Care
sulphonamides
aminoglycosides
flouroquinolones
chloramphenicol
tetracyclines
griseofulvan
clindamycin

52
Q

pathophysiology of gilberts syndrome

A

reduced UDP glucoronyltransferase resulting in build up of unconjugated bilirubin in times of stress/illnes

53
Q

pathophysiology of dubin-johnson syndrome

A

impaired excretion of conjugated bilirubin resulting in conjugated hyperbilirubinaemia

54
Q

pathophysiology of crigler najjar syndrome

A

total absent UDP glucoronidyl transferase
presents early in life with jaundic, kernicterus and unconjugated hyperbilirubinaemia
requires liver transplant, phototherapy and plasmophoresis

type II is less severe form and can be treated with phenobarbital which increases liver enzymes

55
Q

pathophysiology of rotter syndrome

A

impaired hepatic storage of conjugated bilirubin = elevated conjugated bilirubin levels
phenotypically similar to dubin-johnson but less severe and no black liver

56
Q
A