Clinical Sciences Flashcards

1
Q

Genetic predisposition of coeliac

A

95% patients have HLA DQ2 or 8
Tissue transglutaminase acts on alpha gliadin -> generates epitopes to CD4 T cells -> intestinal wall inflammation
If untreated CD4 t cells make IFN g in intestinal wall

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2
Q

Is clexane monitored in pregnancy

A

No

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3
Q

Cardiac defect seen in trisomy 21

A

ASD seen in Down’s

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4
Q

Huntington’s inheritance

A

AD

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5
Q

What does a specificity of 90% mean?

A

if 100 people without disease, 90 will test negative, 10 will test positive

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6
Q

Sensitivity vs specificity

A

Sensitivity = SPIN
(Specific test, POSITIVE rules IN the disease)

Specificity = SNOUT
(Sensitive test when Negative rules OUT the disease)

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7
Q

How do you calculate specificity

A

TN / TN+FP

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8
Q

ADH

Where is it made and released?

A

Nonapeptide

made in hypothalamus, Released from posterior pituitary

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9
Q

ADH

MOA?

A

Acts on CD, increases water permeability and water retention

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10
Q

ADH

What drugs increase and decrease release?

A

Carbamazepine, thiazides, SSRIs increase ADH release

Ethanol usually inhibits release

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11
Q

superior pancreaticoduodenal artery

Branches off?

Supplies?

A

S P-D A

branch of the gastroduodenal artery

supplies the head of the pancreas + upper duodenum

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12
Q

right hepatic artery supplies

A

supplies the right lobe of the liver and part of the caudate lobe

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13
Q

right gastric artery supplies

A

supply the pylorus and the lesser curvature of the stomach

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14
Q

right and left gastroepiploic arteries

A

supply the greater curvature of the stomach

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15
Q

hyperkalaemia due to reduced renal excretion caused by

acidosis
rhabdomyolysis
tumour lysis
malignant hyperthermia, and
burns.
Drugs that cause hyperkalaemia include:
A

AKI

Type 4 RTA

Addison’s

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16
Q

Cellular causes of hyperkalaemia

A

acidosis

rhabdomyolysis

lumour lysis

malignant hyperthermia and burns

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17
Q

Drugs causing hyperkalaemia

A

K-sparing diuretics

ACEi

NSAIDs

CYCLOSPORIN

BB

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18
Q

Progressive massive fibrosis associated with which lung condition?

A

complicated silicosis

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19
Q

Cyanide MOA

A

inhibition of the enzyme cytochrome oxidase c

interferes with the basic process of cellular respiration, preventing the formation of ATP and causing rapid cell death

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20
Q

Sarin gas MOA

A

inhibition of the enzyme acetylcholinesterase

causing acetylcholine to build up
causing prolonged sustained contraction of the diaphragm

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21
Q

Cystic fibrosis gene mutation

A

CFTR gene on chromosome 7

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22
Q

Cystic fibrosis gold standard Ix

A

Chloride concentration >60mmol/L

with sodium concentration lower than that of chloride on two separate occasions

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23
Q

Extrinsic Allergic Alveolitis/ farmers lung

What is it?

Typical feature O/E?

Common precipitins? Ix?

A

hypersensitivity pneumonitis (caused by immune response to inhaled allergens)

Basal crackles

Check for Abs to precipitins S rectivirgula and T vulgaris

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24
Q

thyroid hormone receptor

is what kind of receptor?

A

nuclear receptor

When T3 binds TH receptor, can bind genes and initiate transcription

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25
Q

Bronchial asthma

affected by which alleles

A

HLA alleles

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26
Q

G6PD deficiency inheritance

Who of children will have it if dad affected mum is not carrier?

A

X linked

NO ONE AFFECTED
male will pass on the X chromosome to any daughters, who will not be affected, as they will have a ‘good’ X from the mothers, and the father will pass on the Y chromosome to his sons, who will not be affected

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27
Q

Hereditary haemorrhagic telangiactasia inheritance

A

AD

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28
Q

Congenital adrenal hyperplasia inheritance

A

AR

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29
Q

cellular telomerase activity affects

A

The number of cell divisions a cell is capable of undergoing

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30
Q

MEN 1

3 P’s

A

Pituitary adenoma

Parathyroid

Pancreas (Gastrinoma)

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31
Q

MEN 2A

PPM

A

-

Parathyroid

Medullary Thyroid

Phaeochromocytoma

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32
Q

MEN 2B

MMMP

A

Mucosal neuromas

Medullary thyroid

Marfanoid body

Phaeo

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33
Q

Lesions of the frontal lobe cause

A

Expressive aphasia (receptive aphasias are due to a temporal lobe lesion)
Primitive reflexes
Perseveration (repeatedly asking the same question or performing the same task)
Anosmia, and
Changes in personality.

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34
Q

Lesions of the parietal lobe include:

A

Apraxias
Neglect
Astereognosis (unable to recognise an object by feeling it), and
Visual field defects (typically homonymous inferior quadrantanopia).

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35
Q

Lesions of the temporal lobe cause:

A

Wernicke’s (receptive) aphasia

Visual field defects (typically homonymous superior quadrantanopia)

Auditory agnosia, and
Memory impairment.

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36
Q

Occipital lobe lesions include:

A
Cortical blindness (blindness due to damage to the visual cortex and may present as Anton syndrome where there is blindness but the patient is unaware or denies blindness)
Homonymous hemianopia, and
Visual agnosia (seeing but not perceiving objects - it is different to neglect since in agnosia the objects are seen and followed but cannot be named)
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37
Q

ITP Abs are to

A

Majority ITP actually autoimmune

Abs to glycoproteins IIb-IIIa or Ib-IX (IgG) in 80% ITP

Soating of platelets with IgG -> phagocytosis by splenic macrophages.

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38
Q

Neurofibromatosis type 1 inheritance

A

AD

Chromosome 17

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39
Q

Neurofibromatosis type 1 inheritance

A

Chromosome 22

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40
Q

Cholecystokinin (CCK) is made in I cells of duodenum, jejunum and enteric nerves.

A

promotes gallbladder contraction and intestinal motility
increases secretion of pancreatic enzymes including insulin, glucagons, pancreatic polypeptides
role in satiety, and
short half life, less than three minutes, cleared by the kidneys.
Stimulus for secretion:

mixtures of polypeptides and amino acids especially phenylalanine and tryptophan stimulate release but undigested protein does not
gastric acid entering duodenum
fatty acids, especially in micelles
secretion inhibited by somatostatin.

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41
Q

inherited in a autosomal codominant manner with certain combinations resulting in alpha-1 antitrypsin deficiency.

A

homozygous SS or ZZ are those who are most likely to manifest clinical disease

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42
Q

tremor in parkinson’s vs essential tremor

A

PD - resting tremor

essential - postural tremor (on movement)

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43
Q

Rx Sickle Cell Crisis

A
Give O2
IV Fluids
Analgesia 
Exchange transfusion if low Hb (get HbS to <30%)
ABx if infection
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44
Q

40M
muscle weakness UL and LL
Cannot let go of someone’s hand after shaking it

A

Myotonic dystrophy
(muscle wasting + unable to relax muscles(myotonia))

Can affect heart/resp/GI muscles

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45
Q

Features myotonic dystrophy

A
Cataracts
Ptosis
Frontal baldness
Gynaecomastia
Diabetes
Reduced reflexes + myotonia (can't relax)
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46
Q

Contraindication for BCG (live) vaccine

A

immunosuppressed e.g. steroids

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47
Q

Porphyria precipitants

Non drugs

Drugs

A

Non-drugs - stress, menstruation infection, pregnancy, starvation

Drugs - phenytoin, barbiturates, sulphonamides

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48
Q

24M haematuria proteinuria sensorineural deafness

A

alport syndrome

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49
Q

Alport syndrome mutation

A

Collagen IV gene

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50
Q

high triglycerides associated with what deficiency

A

lipoprotein lipase deficiency

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51
Q

Which intracellular structure has own self-replicating DNA?

A

mitochondria

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52
Q

Henoch Schonlein Purpura pathophysiology

A

Mesangial IgA deposits

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53
Q

Commonest cause of urticaria

A

Idiopathic (50%)

Also immune and non-immune

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54
Q

Which IL involved in anaphylaxis?

A

IL 4
IL 13

CD4 T cells
IgE

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55
Q

CREST / (limited) systemic sclerosis

A

anti-centromere antibodies

56
Q

diffuse cutaneous sclerosis

A

anti-scl70/ anti topoisomerase

57
Q

Pregnant woman
HepB core Ab POSITIVE
HepB sAg POSITIVE
HepB e Ag NEGATIVE

Mx?

A

give baby Hep B vaccine and Hep B Ig

give IG only if mum has Abs or acute infection during pregnancy

58
Q

73M

diplopia
left hemiparesis
facial weakness of forehead + cheeks (LMN)

A

pontine stroke

diplopia
hemiparesis
LMN lesion

59
Q

Class II MHCs present on which cells

A

APCs:
B cells
dendritic cells
macrophages

60
Q

allergen-specific IgE Ix

A

skin prick testing

61
Q

Apoptosis induced by

A

caspase activation

62
Q

causes high Mg

A

iatrogenic

CKD

63
Q
50F on ABx 1/52 for pneumonia then has
fever 
maculopapular rah
arthralgia
eosinophilia/ eosinophiuria
proteinuria
A

acute interstitial nephritis

type IV hypersensitivity to drugs

64
Q

RTI or gastroenteritis

then recurrent visible haematuria

A

IgA nephropathy / Berger’s disease

65
Q

Ix IgA nephropathy

A

renal biopsy

66
Q

Genetics Myotonic dystrophy (2)

A
AD inheritance
genetic anticipation (trinucleotide repeats)
67
Q

progressive weakness

sensory level loss e/g/ T10

A

meningioma

68
Q

GLP-1 function

glucagon-like-peptide 1

A

promotes satiety (reduces rate gastric emptying)

promotes insulin release

suppresses glucagon release

69
Q

exanatide MOA and indication

A

GLP-1 analogue

T2DM treatment

70
Q

Intrinsic factor

Where is it made?

Synthesis is stimulated what?

Used for?

A

Parietal cells

Gastrin, food, histamine

B12 absorption in ileum

71
Q

VItamin D resistant rickets inheritance

A

X-linked dominant

72
Q

Secretin function

A

increases bicarb secretion
reduces gastric acid formation
increases bile flow

73
Q

Achondroplasia inheritance

A

AD

74
Q

Achondroplasia features

A

normal spine, short limbs, macrocephaly

Can be diagnosed radiologically at birst

75
Q

GGT made by

A

muscle
prostate
liver

76
Q

Risk of Hep B

from needlestick injury
from chronic Hep B w high infectivity

A

1/3

77
Q

Function of

Type I pneumocytes

Type II pneumocytes

A

Type I - gas exchange

Type II - make lung surfactant (stop alveoli collapsing when they expand)

78
Q

Friedrich’s ataxia inheritance

A

AR

79
Q

Haemolytic anaemia

DAT 
reticulocytes 
bilirubin 
LDH 
haptoglobins 
blood film 
urinary uribilinogen
A

blood film - spherocytes/ fragmented RBC

80
Q

Which hormones act on cells through cAMP pathway (as unable to pass membrane)

A

pituitary hormones
LH, FSH, PTH, TSH
(also adrenaline, glucagon)

81
Q

Which hormones act on cells through cAMP pathway (as unable to pass membrane)

A

pituitary hormones
LH, FSH, PTH, TSH
(also adrenaline, glucagon)

82
Q

Triceps reflex nerve

A

C7 radial nerve

83
Q

What is the Fick principle

A

Measures renal blood flow

approx 25% of cardiac output

84
Q

Addisons and Conn’s syndrome

Na and K levels

A

Addison’s
Na - low K - high

Conn’s
Na - high K - low

85
Q

Turner’s syndrome (webbed neck)

Heart abnormality

A

Aortic coarctation

86
Q

Causes of pes cavus

A

Friedrich’s ataxia

Charcot Marie tooth

87
Q

Conditions where you get genetic anticipation (3)

A

Friedrich’s ataxia
Myotonic dystrophy
Huntington’s

88
Q

Type 4 RTA MOA

Features:

  • Na and K levels
  • urine
A

hypoaldosteronism

low Na and high K
normal urine acidification

89
Q

Rx type 4 RTA
for aldosterone deficiency
for aldosterone resistance

A

Aldosterone deficiency - fludrocortisone

Aldosterone resistance - K restriction, loop diuretics, sodium bicarb

90
Q

Antihypertensives CI in pregnancy

Why?

A

ACEi and ARBs

Cause renal dysgenesis in foetus

91
Q

Anti-HTN used in pregnancy

A

Labetolol

92
Q

Hyperaldosteronism

Na and K

BP?

A

High Na

Low K

High BP

93
Q

Causes Primary hyperaldosteronism

A

Conn’s (adrenal adenoma) (>50%)

Adrenal hyperplasia

Adrenal carcinoma (rare)

Cortisol (glucocorticoid) deficiency
(as inc. ACTH -> inc. Ald)
NB Addison’s is deficiency of gluco and mineralocorticoid

94
Q

What is enterohepatic circulation?

A

Bile products reabsorbed in terminal ileum

then return to liver in portal circulation

95
Q

Hypogonadotrophic hypogonadism

Cannot smell

A

Kallman’s syndrome

deficiency hypothalamic GRH

96
Q

Focal Segmental Glomerulosclerosis

MOA

Cause

Features

Ix

Rx

Complications

A

MOA - podocyte injury in glomeruli

Cause - Idiopathic or 2 to HIV/obesity/meds

Features - proteinuria, low albumin, oedema

Ix - renal biopsy - scarring glomeruli
Rx = corticosteroids (if Sx/nephrotic proteinuria), otherwise give ACEi

Complications - ESRF +/- transplant (in 50%)

97
Q

How to distinguish cardiac vs respiratory causes of SOB

A

cardiac cause would have orthopnoea

98
Q

When to give the (live) MMR vaccine in pregnancy

A

Post partum

Live vaccines are contraindicated in pregnancy

99
Q

45F reduced hearing R side

MRI - 3cm mass in left cerebellopontine angle

Dx?

Prognosis?

A

Acoustic neuroma

can be fully resected, good prognosis

100
Q

68F

multiple falls in last 6m
broad based (ataxic) gait
she has a ‘jerky’ tremor

Dx?

A

Multiple systems atrophy

PSP, you don’t get cerebellar signs

101
Q

On/off phenomena in Parkinson’s.

Which drug would you add?

A

Cabergoline

102
Q

Two drugs that increase risk of VTE

A

OCP

Antipsychotics

103
Q

Rare eye complication of Diclofenac

A

Optic neuritis

104
Q

Chlamydia Rx

A

Azithromycin or Doxycycline

105
Q

Bloods abnormality in Phenytoin

A

macrocytic anaemia

B12 deficiency

106
Q

Sildenafil (phosphodiesterase 5 inhibitors) should be avoided which which drugs?

Why?

A

nitrates or nicorandil

Due to vasodilatation potentially causing hypotension and precipitating a myocardial event

107
Q

TCA (amitriptyline) OD Rx

A

IV sodium bicarbonate

108
Q

tremor in parkinson’s vs essential tremor

A

PD - resting tremor

essential - postural tremor (on movement)

109
Q

loss knee jerk reflex

which nerve is affected?

A

femoral nerve

supplies quadriceps femoris

110
Q

loss sensation lateral aspect thigh

which nerv affected?

A

lateral cutaneous nerve

111
Q

loss hip adduction and loss sensation inner thigh

which nerve affected?

A

obturator nerve

112
Q

condition with hyperphenylalaninaemia (amino acid)

A

phenylketonuria

113
Q

inheritance phenylketonuria

A

AR

114
Q

test for phenylketonuria

A

high urine phenylalanine metabolites

115
Q

learning disabilities
microcephaly
decreased growth
high urine phenylalanine metabolites

A

phenylketonuria

116
Q

SA node and AV node supplies by

A

right coronary artery

117
Q

asymmetrical funnel plots means

A

publication bias

118
Q

tuberculin skin test

which typer hypersensitivity reaction

A

Type IV

119
Q

where is GGT made

A

muscle
prostate
liver

120
Q

PTH resistance

A

pseudohypoparathyroidism

121
Q

anosmia

hypothalamic gonadotrophic releasing hormone (GRH) deficiency

A

Kallmann syndrome

122
Q

diagnostic test Kallmann syndrome

A

FISH (chromosomal test)

123
Q

Ciprofloxacin MOA

A

interferes with DNA synthesis

124
Q

nephritis
haematuria
progressive renal failure

deafness

M>F

A

Alport syndrome

125
Q

Hypokalaemia
Metabolic acidosis
High urinary pH (above 6)

A

Type 1 or 2 RTA

126
Q

Pathophysiology Type 1 RTA

A

DCT

cannot excrete H+ ions

127
Q

Pathophysiology Type 2 RTA

GET OSTEOMALACIA due to ACIDOSIS

A

PCT

cannot reabsorb bicarbonate ions

128
Q

Causes Type 1 RTA

A
Genetic. AR and AD
SLE
Sjogren’s 
Primary biliary cirrhosis
Hyperthyroidism
Sickle cell anaemia
Marfan’s syndrome
129
Q

Cause Type 2 RTA

A

Fanconi syndrome

130
Q

Hyperkalaemia
High chloride
Metabolic acidosis
Low urinary pH

A

Type 4 RTA

131
Q

Pathophysiology Type 4 RTA

A

low aldosterone

-> low Na, high K, high H+

132
Q

Causes Type 4 RTA

A
adrenal insufficiency
ACE inhibitors
spironolactone 
systemic lupus erythematosus
diabetes 
HIV
133
Q

Rx Type 4 RTA

A

fludrocortisone
sodium bicarb
treat high K

134
Q

Rx Type 1 and 2 RTA

A

sodium bicarbonate

135
Q

SLE associated w/ complements:

A

C1qrs
C2
C4