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
2
Q
Is clexane monitored in pregnancy
A
No
3
Q
Cardiac defect seen in trisomy 21
A
ASD seen in Down’s
4
Q
Huntington’s inheritance
A
AD
5
Q
What does a specificity of 90% mean?
A
if 100 people without disease, 90 will test negative, 10 will test positive
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)
7
Q
How do you calculate specificity
A
TN / TN+FP
8
Q
ADH
Where is it made and released?
A
Nonapeptide
made in hypothalamus, Released from posterior pituitary
9
Q
ADH
MOA?
A
Acts on CD, increases water permeability and water retention
10
Q
ADH
What drugs increase and decrease release?
A
Carbamazepine, thiazides, SSRIs increase ADH release
Ethanol usually inhibits release
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
12
Q
right hepatic artery supplies
A
supplies the right lobe of the liver and part of the caudate lobe
13
Q
right gastric artery supplies
A
supply the pylorus and the lesser curvature of the stomach
14
Q
right and left gastroepiploic arteries
A
supply the greater curvature of the stomach
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
16
Q
Cellular causes of hyperkalaemia
A
acidosis
rhabdomyolysis
lumour lysis
malignant hyperthermia and burns
17
Q
Drugs causing hyperkalaemia
A
K-sparing diuretics
ACEi
NSAIDs
CYCLOSPORIN
BB
18
Q
Progressive massive fibrosis associated with which lung condition?
A
complicated silicosis
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
20
Q
Sarin gas MOA
A
inhibition of the enzyme acetylcholinesterase
causing acetylcholine to build up
causing prolonged sustained contraction of the diaphragm
21
Q
Cystic fibrosis gene mutation
A
CFTR gene on chromosome 7
22
Q
Cystic fibrosis gold standard Ix
A
Chloride concentration >60mmol/L
with sodium concentration lower than that of chloride on two separate occasions
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
24
Q
thyroid hormone receptor
is what kind of receptor?
A
nuclear receptor
When T3 binds TH receptor, can bind genes and initiate transcription
25
Bronchial asthma
affected by which alleles
HLA alleles
26
G6PD deficiency inheritance
Who of children will have it if dad affected mum is not carrier?
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
27
Hereditary haemorrhagic telangiactasia inheritance
AD
28
Congenital adrenal hyperplasia inheritance
AR
29
cellular telomerase activity affects
The number of cell divisions a cell is capable of undergoing
30
MEN 1
3 P's
Pituitary adenoma
Parathyroid
Pancreas (Gastrinoma)
31
MEN 2A
PPM
-
Parathyroid
Medullary Thyroid
Phaeochromocytoma
32
MEN 2B
MMMP
Mucosal neuromas
Medullary thyroid
Marfanoid body
Phaeo
33
Lesions of the frontal lobe cause
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.
34
Lesions of the parietal lobe include:
Apraxias
Neglect
Astereognosis (unable to recognise an object by feeling it), and
Visual field defects (typically homonymous inferior quadrantanopia).
35
Lesions of the temporal lobe cause:
Wernicke's (receptive) aphasia
Visual field defects (typically homonymous superior quadrantanopia)
Auditory agnosia, and
Memory impairment.
36
Occipital lobe lesions include:
```
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)
```
37
ITP Abs are to
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.
38
Neurofibromatosis type 1 inheritance
AD
Chromosome 17
39
Neurofibromatosis type 1 inheritance
Chromosome 22
40
Cholecystokinin (CCK) is made in I cells of duodenum, jejunum and enteric nerves.
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.
41
inherited in a autosomal codominant manner with certain combinations resulting in alpha-1 antitrypsin deficiency.
homozygous SS or ZZ are those who are most likely to manifest clinical disease
42
tremor in parkinson's vs essential tremor
PD - resting tremor
essential - postural tremor (on movement)
43
Rx Sickle Cell Crisis
```
Give O2
IV Fluids
Analgesia
Exchange transfusion if low Hb (get HbS to <30%)
ABx if infection
```
44
40M
muscle weakness UL and LL
Cannot let go of someone's hand after shaking it
Myotonic dystrophy
(muscle wasting + unable to relax muscles(myotonia))
Can affect heart/resp/GI muscles
45
Features myotonic dystrophy
```
Cataracts
Ptosis
Frontal baldness
Gynaecomastia
Diabetes
Reduced reflexes + myotonia (can't relax)
```
46
Contraindication for BCG (live) vaccine
immunosuppressed e.g. steroids
47
Porphyria precipitants
Non drugs
Drugs
Non-drugs - stress, menstruation infection, pregnancy, starvation
Drugs - phenytoin, barbiturates, sulphonamides
48
24M haematuria proteinuria sensorineural deafness
alport syndrome
49
Alport syndrome mutation
Collagen IV gene
50
high triglycerides associated with what deficiency
lipoprotein lipase deficiency
51
Which intracellular structure has own self-replicating DNA?
mitochondria
52
Henoch Schonlein Purpura pathophysiology
Mesangial IgA deposits
53
Commonest cause of urticaria
Idiopathic (50%)
Also immune and non-immune
54
Which IL involved in anaphylaxis?
IL 4
IL 13
CD4 T cells
IgE
55
CREST / (limited) systemic sclerosis
anti-centromere antibodies
56
diffuse cutaneous sclerosis
anti-scl70/ anti topoisomerase
57
Pregnant woman
HepB core Ab POSITIVE
HepB sAg POSITIVE
HepB e Ag NEGATIVE
Mx?
give baby Hep B vaccine and Hep B Ig
| give IG only if mum has Abs or acute infection during pregnancy
58
73M
diplopia
left hemiparesis
facial weakness of forehead + cheeks (LMN)
pontine stroke
diplopia
hemiparesis
LMN lesion
59
Class II MHCs present on which cells
APCs:
B cells
dendritic cells
macrophages
60
allergen-specific IgE Ix
skin prick testing
61
Apoptosis induced by
caspase activation
62
causes high Mg
iatrogenic
| CKD
63
```
50F on ABx 1/52 for pneumonia then has
fever
maculopapular rah
arthralgia
eosinophilia/ eosinophiuria
proteinuria
```
acute interstitial nephritis
| type IV hypersensitivity to drugs
64
RTI or gastroenteritis
then recurrent visible haematuria
IgA nephropathy / Berger's disease
65
Ix IgA nephropathy
renal biopsy
66
Genetics Myotonic dystrophy (2)
```
AD inheritance
genetic anticipation (trinucleotide repeats)
```
67
progressive weakness
| sensory level loss e/g/ T10
meningioma
68
GLP-1 function
| glucagon-like-peptide 1
promotes satiety (reduces rate gastric emptying)
promotes insulin release
suppresses glucagon release
69
exanatide MOA and indication
GLP-1 analogue
T2DM treatment
70
Intrinsic factor
Where is it made?
Synthesis is stimulated what?
Used for?
Parietal cells
Gastrin, food, histamine
B12 absorption in ileum
71
VItamin D resistant rickets inheritance
X-linked dominant
72
Secretin function
increases bicarb secretion
reduces gastric acid formation
increases bile flow
73
Achondroplasia inheritance
AD
74
Achondroplasia features
normal spine, short limbs, macrocephaly
Can be diagnosed radiologically at birst
75
GGT made by
muscle
prostate
liver
76
Risk of Hep B
from needlestick injury
from chronic Hep B w high infectivity
1/3
77
Function of
Type I pneumocytes
Type II pneumocytes
Type I - gas exchange
Type II - make lung surfactant (stop alveoli collapsing when they expand)
78
Friedrich's ataxia inheritance
AR
79
Haemolytic anaemia
```
DAT
reticulocytes
bilirubin
LDH
haptoglobins
blood film
urinary uribilinogen
```
blood film - spherocytes/ fragmented RBC
80
Which hormones act on cells through cAMP pathway (as unable to pass membrane)
pituitary hormones
LH, FSH, PTH, TSH
(also adrenaline, glucagon)
81
Which hormones act on cells through cAMP pathway (as unable to pass membrane)
pituitary hormones
LH, FSH, PTH, TSH
(also adrenaline, glucagon)
82
Triceps reflex nerve
C7 radial nerve
83
What is the Fick principle
Measures renal blood flow
| approx 25% of cardiac output
84
Addisons and Conn's syndrome
Na and K levels
Addison's
Na - low K - high
Conn's
Na - high K - low
85
Turner's syndrome (webbed neck)
Heart abnormality
Aortic coarctation
86
Causes of pes cavus
Friedrich's ataxia
| Charcot Marie tooth
87
Conditions where you get genetic anticipation (3)
Friedrich's ataxia
Myotonic dystrophy
Huntington's
88
Type 4 RTA MOA
Features:
- Na and K levels
- urine
hypoaldosteronism
low Na and high K
normal urine acidification
89
Rx type 4 RTA
for aldosterone deficiency
for aldosterone resistance
Aldosterone deficiency - fludrocortisone
Aldosterone resistance - K restriction, loop diuretics, sodium bicarb
90
Antihypertensives CI in pregnancy
Why?
ACEi and ARBs
Cause renal dysgenesis in foetus
91
Anti-HTN used in pregnancy
Labetolol
92
Hyperaldosteronism
Na and K
BP?
High Na
Low K
High BP
93
Causes Primary hyperaldosteronism
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
What is enterohepatic circulation?
Bile products reabsorbed in terminal ileum
| then return to liver in portal circulation
95
Hypogonadotrophic hypogonadism
Cannot smell
Kallman's syndrome
| deficiency hypothalamic GRH
96
Focal Segmental Glomerulosclerosis
MOA
Cause
Features
Ix
Rx
Complications
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
How to distinguish cardiac vs respiratory causes of SOB
cardiac cause would have orthopnoea
98
When to give the (live) MMR vaccine in pregnancy
Post partum
Live vaccines are contraindicated in pregnancy
99
45F reduced hearing R side
MRI - 3cm mass in left cerebellopontine angle
Dx?
Prognosis?
Acoustic neuroma
can be fully resected, good prognosis
100
68F
multiple falls in last 6m
broad based (ataxic) gait
she has a 'jerky' tremor
Dx?
Multiple systems atrophy
| PSP, you don't get cerebellar signs
101
On/off phenomena in Parkinson's.
Which drug would you add?
Cabergoline
102
Two drugs that increase risk of VTE
OCP
| Antipsychotics
103
Rare eye complication of Diclofenac
Optic neuritis
104
Chlamydia Rx
Azithromycin or Doxycycline
105
Bloods abnormality in Phenytoin
macrocytic anaemia
B12 deficiency
106
Sildenafil (phosphodiesterase 5 inhibitors) should be avoided which which drugs?
Why?
nitrates or nicorandil
Due to vasodilatation potentially causing hypotension and precipitating a myocardial event
107
TCA (amitriptyline) OD Rx
IV sodium bicarbonate
108
tremor in parkinson's vs essential tremor
PD - resting tremor
essential - postural tremor (on movement)
109
loss knee jerk reflex
which nerve is affected?
femoral nerve
| supplies quadriceps femoris
110
loss sensation lateral aspect thigh
which nerv affected?
lateral cutaneous nerve
111
loss hip adduction and loss sensation inner thigh
which nerve affected?
obturator nerve
112
condition with hyperphenylalaninaemia (amino acid)
phenylketonuria
113
inheritance phenylketonuria
AR
114
test for phenylketonuria
high urine phenylalanine metabolites
115
learning disabilities
microcephaly
decreased growth
high urine phenylalanine metabolites
phenylketonuria
116
SA node and AV node supplies by
right coronary artery
117
asymmetrical funnel plots means
publication bias
118
tuberculin skin test
| which typer hypersensitivity reaction
Type IV
119
where is GGT made
muscle
prostate
liver
120
PTH resistance
pseudohypoparathyroidism
121
anosmia
hypothalamic gonadotrophic releasing hormone (GRH) deficiency
Kallmann syndrome
122
diagnostic test Kallmann syndrome
FISH (chromosomal test)
123
Ciprofloxacin MOA
interferes with DNA synthesis
124
nephritis
haematuria
progressive renal failure
deafness
M>F
Alport syndrome
125
Hypokalaemia
Metabolic acidosis
High urinary pH (above 6)
Type 1 or 2 RTA
126
Pathophysiology Type 1 RTA
DCT
| cannot excrete H+ ions
127
Pathophysiology Type 2 RTA
GET OSTEOMALACIA due to ACIDOSIS
PCT
| cannot reabsorb bicarbonate ions
128
Causes Type 1 RTA
```
Genetic. AR and AD
SLE
Sjogren’s
Primary biliary cirrhosis
Hyperthyroidism
Sickle cell anaemia
Marfan’s syndrome
```
129
Cause Type 2 RTA
Fanconi syndrome
130
Hyperkalaemia
High chloride
Metabolic acidosis
Low urinary pH
Type 4 RTA
131
Pathophysiology Type 4 RTA
low aldosterone
| -> low Na, high K, high H+
132
Causes Type 4 RTA
```
adrenal insufficiency
ACE inhibitors
spironolactone
systemic lupus erythematosus
diabetes
HIV
```
133
Rx Type 4 RTA
fludrocortisone
sodium bicarb
treat high K
134
Rx Type 1 and 2 RTA
sodium bicarbonate
135
SLE associated w/ complements:
C1qrs
C2
C4
