Clinical sciences round 2 Flashcards

1
Q

Key electrolyte abnormality in ethylene glycol poisoning

A

HypoCa
[Will also have a metabolic acidosis]

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2
Q

Methanol vs ethylene glycol - what is the toxic acid formed

A

Methanol - formic acid
Ethylene glycol - oxalic acid

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3
Q

Which Ig activates complement via classical pathway? Alternate?

A

Classical - IgM, IgG

Alternate - IgA does Alternate

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4
Q

Isolated bilirubinaemia and doesn’t appear in urine. Not given un/conjugated levels. Dx?

A

Gilberts

[Congugated Eg rotor and Dubin-johnson have conjugated -> appears in urine]

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5
Q

Where does bilirubin get congugated? By what? Inheritence? basic pathology of Gilbers vs Criggler Nijjar vs Dubin vs rotor

A

Liver
Uridine Glucuronyl transferase - UGT
[The whole name is longer. ]
All R Resessive

Gilberts - immature UGT so get increased unconjugated bilirubin after stress Eg flu / hiking
G=good

Criggler - Absent UGT
C= cancelled UGT

Dubin - Cant excrete the conjugated bilirubin. Builds up in liver = Dark liver
D-Dark liver

Rotor - mild form of Dubin = conjugated bilirubinaemia but some excreted so don’t get the dark liver

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6
Q

Why do you encapsulate stem cells used for various therapies

A

Prevent autoimmune attack

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6
Q

Why do you encapsulate stem cells used for various therapies

A

Prevent autoimmune attack

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7
Q

Winging of the scapular. Which nerve is affected?

A

Long thoracic nerve

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8
Q

How does botulism toxin work?

A

Prevents release of Ach at the neuromuscular junction
[Produced from Type A neurotoxin]

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9
Q

Phase 3 of action potential has closure of what channels

A

Calcium

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10
Q

Classes of antiarrhythmic

A

Some Block Potassium Channels

Sodium channel blockers (class I)
- Procainamide, Lidocaine, flecanide

Beta-blockers (class II)

Potassium channel blockers (class III)
-Amiodarone, sotalol

Calcium channel blockers (class IV)

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11
Q

Which B blockers also block A adreoreceptors

A

Carvedilol (-ilol)

Labetalol (-alol)

[They don’t end in -olol]

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12
Q

what % white people carry CFTR gene? What chromosome

A

5%
Chromosome 7

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13
Q

Precursor to cortisol

A

11-deoxycortisol

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14
Q

Anti-b2 glycoprotein found in

A

Antiphospholipid syndrome

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15
Q

Dehydrated with hypoNa and high urinary Na =

A

Adrenal failure

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16
Q

How much pred matches a 75kg persons normal glucocorticoid production daily

A

7.5mg

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17
Q

Congenital long QT is defect in which channel? 1 line rx for prevention of recurrence of Tachyarrythmias

A

Potassium

B blockers - reduce VT recurrence by 70%
-May need ICD

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18
Q

Endothelin primarily does what in kidney?
Effect on RASS?

A vs B?

A

Afferent vasoconstriction
Stimulates RASS

A- constriction
B - NO mediated vasodilation

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19
Q

On BB, ACEi, thiazide and has low K. What’s the most likely cause of hypoK

A

Thiazide diuretic

[Conns is actually very rare]

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20
Q

most common assoc of anti-Ro

A

Sjorgren
Anti Ro and La

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21
Q

What stimulates ANP? What does it do?

A

Responds to increased blood volume
-Atrial stretch stimulates

-> Dilates afferent, constricts efferent
-> increases GFR + salt and water excretion

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22
Q

Males vs females measuring plasma concentrations of drug 2hrs after ingestion test?

A

Log regression analysis

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23
Q

Blood results in osteomalacia?

A

Low Ca -> high PTH -> Low PO4
Raised ALP
Low Vit D

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24
Q

Why do you get Na and water retention in an overloaded cirrhotic patient (ascites / effusions….)

A

Arterial underfilling.

Due to:
-Arterial vasodilation secondary to NO
-Low albumin and oncotic pressure

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25
Q

What is nominal data

A

Categorical with no indication of order
Eg Hot / cold

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26
Q

How many genes do we have

A

20,000

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27
Q

C peptide in insulin vs gliclazide abuse

A

Insulin - Low
Gliclazide - high

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28
Q

AST/ALT when do you start to think its alcohol-related?

A

AST : ALT ratio >2

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29
Q

Can you do a crossover trial with a dmard

A

no because it permanently alters the disease process

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30
Q

T1DM is islet cell antibodies. What else is seen in accelerated B cell failure

A

Anti-ZnT8

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31
Q

Starts COCP -> Weakness in legs, vomiting, abdo pain. Why?

A

Acute intermittent porphyria
dominant inheritance

[oestrogen is a trigger]

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32
Q

Compare binary outcomes between groups

A

Chi 2

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33
Q

highest resolution of 3D structure of a protein? How the protein changes over time?

A

x-ray crystallography

Dual polarisation interferometry for how it changes over time

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34
Q

Given data on mean change (in Eg weight) for 2 groups. What test?

A

Independent samples t-test

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35
Q

test to work out if an increased number of infections results in earlier graft failure

A

Spearman’s correlation

Takes the number of infections and then ranks people in order of time to graft failure…

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36
Q

Why do you not get renal disease in Waldenstrom’s macroglobulinaemia

A

Isolated IgM
No light chains = no renal disease

As only IgM tends to present with sx of hyperviscosity

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37
Q

What do prostaglandins bind to?
How are they affected by COX?

A

G coupled receptors
COX stimulates synthesis
->Aspirin/NSAIDs inhibit

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38
Q

Which diuretic can be used for Rx of metabolic alkalosis

A

Acetazolomide

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39
Q

What is the most important analysis of efficacy

A

Intention to treat

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40
Q

why do old people have a wider pulse pressure

A

Decreased aortic compliance

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41
Q

Which class of diuretics on sodium-chloride symporter

Which on Sodium-chloride-potassium

A

Thiazide

Loop

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42
Q

Central scotoma = lesion where

A

optic nerve

Often due to HTN / MS

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43
Q

Which 2 things in overdose classically cause a respiratory alkalosis at first?

A

Salicylates
Theophyline

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44
Q

SLE classic inflam markers in active disease

A

++ raised ESR
only modest rise in CRP

Lymphopenia
Mild thrombocytopenia

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45
Q

How much of the livers blood flow is from the portal vein? What is its pressure? Pressure for portal HTN?

A

75%

5-8mmHg
>12

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46
Q

Signet ring cells seen in?

A

Gastric adenocarcinoma
[poor prognosis]

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47
Q

Loss of sensation of lateral dorsum of foot. Plantar of foot. Loss of plantar flexion / Ankle eversion nerve root?

A

S1

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48
Q

Loss of power of hallux extension

A

L1

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49
Q

L1-S2 dermatomes

A

L1: the inguinal region and the very top of the medial thigh.
L2: the middle and lateral aspect of the anterior thigh.
L3: the medial epicondyle of the femur.
L4: the medial malleolus.
L5: the dorsum of the foot at the third metatarsophalangeal joint.
S1: the lateral aspect of the calcaneus.

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50
Q

Myotomes
C4-8

A

C4: shoulder shrugs
C5: shoulder abduction and external rotation; elbow flexion
C6: elbow flexion
C7: elbow extension and wrist flexion
C8: thumb extension and finger flexion

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51
Q

Myotome T1

A

T1: finger abduction

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52
Q

Myotomes
L1-5

A

L1/2: hip flexion
L3: knee extension
L4: ankle dorsiflexion
L5: big toe extension

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53
Q

Myotomes S1/S4

A

S1: ankle plantarflexion
S4: bladder and rectum motor supply

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54
Q

Where is the Golgi apparatus found?

A

Adjacent to the endoplasmic reticulum

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55
Q

3 thigs making up wiskott-aldrich syndrome

A

Immunodeficiency, eczema and thrombocytopenia

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56
Q

What stimulates growth hormone

A

Exercise
Hypoglycaemia
Stress- emotion, fever, illness

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57
Q

Adaptive immunity to EBV is from…

A

T lymphocytes

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58
Q

How to diagnose orthostatic proteinuria? Why is it useful to do so

A

Urine sample for protein when the patient has been lying flat for a period Eg straight from bed

Benign condition that does not need investigated

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59
Q

Anaesthesia -> anaphylaxis. What’s the likely culprit

A

Paralysis agent in 70%

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60
Q

Familial hypercholesterolaemia is due to mutations in the gene coding for?

A

LDL receptor

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61
Q

Posterior gastric ulcer erodes into which artery?

A

Splenic

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62
Q

2 things leptin does

A

Stimulates hypothalamus to tell you
-You are full
-Stimulates GnRh

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63
Q

What is an azygous lobe? Where would you see it? What causes it to form?

A

-normal variant found in 0.5%
-Extra bit in RUL
-‘reverse comma sign behind medial right clavicle on cxr’

Formed due to failure of the posterior cardinal vein fails to migrate over the apex

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64
Q

What is the early asthma response and which cells? How long does it last?

A

Exposure to antigen
-> mast cell degranulation [FceRI reeptors] in response to IgE already produced by B cells

-> Bronchconstriction peaking at 20 minutes and lasts for 1-2hours

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65
Q

key cells in late stage of asthma and what happens?

A

Occurs after 3-5 hours and lasts for 6-8 hours
Attraction of phagocytes
Eosinophils attracted (IL-13) by lymphocytes

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66
Q

CLL is a disorder of….

A

B lymphocytes

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67
Q

What is a nominal variable

A

Categories that have no obvious order
Eg Sex / Ethnicity

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68
Q

What is an ordinal variable

A

Ordered categories

Eg how satisfied were you
a) not at all b) somewhat c) Very

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69
Q

Macrophages Recognise a couple fixed and the 2 ‘wandering’

A

Fixed
-Kupfer
-Microglial
-Mesangial
-Osteoclasts

Wandering
-Macrophages of the serosal cavities (Pleura, pericardium, peritoneum)
-Alveolar macrophages

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70
Q

ARR of 11%. What is the NNT

A

10

1/0.11 = 9.09 but you always round up to the next whole number in NNT calculations

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71
Q

What enzyme causes gouty tophi formation

A

Xanthine oxidase

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72
Q

25% chance of carrying the disease. If 12 people picked from the population how would you describe the distribution

A

Binomial with n =12, p = 0.25

Binomial is the number of times an event can occur with fixed number of opportunities

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73
Q

Bar ACEi and ARBs which are other med causes angioedema

A

Moxonidine (centrally acting antihypertensive)

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74
Q

what are the main acid-base buffers in the blood

A

Bicarbonate - carbonic acid
Haemoglobin
Phosphate
Proteins in blood

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75
Q

What synthesises phosphodiester bonds

A

DNA ligase

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76
Q

40s difficulty climbing stairs and struggling with eating. Heritability with only men affected

A

Kennedy disease
X-linked spinobulbar neuronopathy

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77
Q

What is no longer recommended for anaphylaxis

A

Hydrocortisone

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78
Q

Most important Management for biphasic allergic reactions

A

Minimum 6 hours observation

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79
Q

When is T test paired or not

A

Unpaired - comparing means between 2 independent groups
Eg in an RTC

Paired - Compares means in dependent groups

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80
Q

Compare means in 2 unrelated groups

A

Unpaired Ttest

81
Q

C1q deficiency leads to

A

SLE

82
Q

IVDU which cryoglobulinaemia do they have?

A

HepC
Type 2

83
Q

Defects in Fibrilin, collagen III, IV and V cause?

A

Fibrilin - Marfans
III - Vascular Ehlers-danlos
IV - alports
V - classical Ehlers-danlos

84
Q

Where is glucagon produced, what does it do?

A

Pancreatic alpha cells
-> Gluconeogenesis, glycogenolysis

85
Q

VWD is what inheritance? What is the chances of offspring having the disease if both patients affected?

A

AD

75%

86
Q

Albumin levels measured on admission and after 3 weeks hospital stay. What test?

A

Paired T test

87
Q

Macular has rods or cones? What is central part called?

A

Cones
Fovea centralis

88
Q

How to calculate clearance of a drug when given plasma / urine concentrations and urine produced

A

(UxV)/p

U = Urine concentration in Mg/ml
V = Volume of urine produced Ml/Minute
P = Plasma concentration in mg/ml

89
Q

Given 220mg of drug, then measured
Plasma conc = 15mg/L
urine conc = 150mg/L
Made 1440mls urine in a day

What is clearance

A

(UxV)/p

Uine conc= 150mg/L = 0.15mg/ml
Volume urine / min = 1ml/min
Plasma conc = 15mg/L = 0.015 mg/ml

= (0.15x1)/0.015 = 10ml/min

90
Q

Why is insulin resistance a pro coagulable state

A

Get increased levels of plasminogen activator inhibitor -1
(PAI-1)

Which is pro coagulable

91
Q

22 year old with recurrent chest infections and raised glucose has?

A

Cystic fibrosis

92
Q

Iron overdose Rx

A

IV desferrioxamine

93
Q

Mycophenolate works how

A

Blocks purine synthesis
Inhibits inosine monophosphate dehydrogenase

94
Q

Sirolimus works how?

A

Inhibits IL-2 via action on mTOR

95
Q

Differentiate HNPCC
FAP
Gardener
Cowden
Peutz-jeghur

A

HNPCC - multiple fam members get colorectal Ca

FAP - 100s-1000s polyps

Gardener - Colorectal ca but also
Dental abnormalities, osteomas of skull, epidermoid cysts

Cowden - Multiple harmatous polyps

Peutz-jeghur - Multiple harmatous polyps and peri-oral pigmentation

96
Q

Why do old people get heatstroke so much

A

Decreased ability to sweat

97
Q

How do you work out post-test odds

A

Pre-test odds x positive likelihood ratio

98
Q

Wilsons gene/chromosome what does it mean?

A

ATP7B, chromosome 13
Recessive

Impaired biliary excretion of copper

99
Q

Prominent V waves =

A

Tricuspid regurg

100
Q

Pulm regurg auscultation

A

Early diastolic murmur

101
Q

Define types of mutation
Miss sense
Non Sense
Insertion
Frame shift

A

Miss sense - converts a codon for one protein into a codon for another

Non sense - Alteration in neucletide sequence that changes a triplet to a termination codon

Insertion - Inserts 1 or more nucleotides

Frame shift - Group of nucleotides (more than 3)

102
Q

Inferior alveolar nerve supplies? What is it from?

A

mandibular branch of trigeminal

-> Sensation to lower lip and teeth

103
Q

What is pseudodominant inheritance

A

Very high carrier rates of Ressessive conditions -> almost appears dominant

Eg hemochromatosis in northern europue

104
Q

New study comparing angioplasty to surgical Rx of angina. What is most useful when comparing to other studies ?

A

Intention to treat analysis

105
Q

What are the class II HLAs

A

DR
DQ
DP

106
Q

Oxygen dissociation curve. What does shift to Left / right mean?
which way does acidosis / alkalosis
Rise in temp
Rise in co2
Rise in HCO3
Rise in 2,3-DPG

A

Shift left - Impairs oxygen delivery to tissues (increased affinity)
-Increased pH, Rise in HCO3

Shift Right - Increased oxygen delivery to tissues [right thing to do]
-Acidosis, rise in temp, rise in 2,3-dpg

[More h+, more temp, rise in dpg,]

107
Q

Diagnosis of myotonic dystrophy

A

Genetic testing
CTG repeat >50 times in DMPK gene

108
Q

Double-blind trial for new drug, ordinal scale (rating 1-3 for pain) what test

A

Man-whitney

109
Q

Most common cause of constipation in enteral feeding?

A

Inadequate fluids

110
Q

What kills people with turners syndrome the most

A

Ruptured thoracic aneurysm

110
Q

What kills people with turners syndrome the most

A

Ruptured thoracic aneurysm

111
Q

Most common cause of HyperCa

A

Primary HyperPTH

112
Q

HyperCa ECG

A

Notching of QRS
Narrow QT

113
Q

What are p1 receptors

A

G protein coupled receptors bound by adenosine
-> Eosinophil apoptosis

[essentially to put a break on activated immune system]

114
Q

Patch vs skin prick testing used when?

A

Patch - contact dermatitis

Prick - IgE mediated anaphylaxis

114
Q

Patch vs skin prick testing used when?

A

Patch - contact dermatitis

Prick - IgE mediated anaphylaxis

115
Q

Calorie requirement per day in severe injury

A

35-40 kcal/kg/day

116
Q

Transydate vs exudate ascites

A

Transudative ascites occurs when a patient’s SAAG level is greater than or equal to 1.1 g/dL (portal hypertension).

Exudative ascites occurs when patients have SAAG levels lower than 1.1 g/dL.

117
Q

Pseudohyperparathyroidism - what will PTH/calcium/PO4 be?

A

Normal but is “resistant” to its effect.

This causeslow blood calcium levelsand high blood phosphate levels.

118
Q

Anal incontinence - assess sphincter structure / function

A

Structure - US scan
Function - Manometry

119
Q

Where would you find asteroid bodies

A

Sarcoid gramulomas most commonly

120
Q

Nutcracker oesopagus also called

A

Hypertensive peristalsis - Increased amplitude contractions

121
Q

What is the function of BRCA1 usually

A

DNA repair

122
Q

What is an allele

A

One form of gene

123
Q

How would you check for an antibody deficiency in someone who gets recurrent bacterial chest infections

A

Check specific pneumococcus / Haemophilus antibodies.

Simply checking serum Ig’s no good - often normal even if unable to create an adequate response and very non-specific…

124
Q

Appears to have allergic reaction when wears latex gloves - how to test?

A

Skin prick testing
-It is an allergy not contact dermatitis

[If contact dermatitis - Patch testing]

125
Q

What is RAST testing

A

Test for specific IgE antibodies that a patient may be allergic to

126
Q

Which hormone makes you feel hungry? Full?

A

Ghrelin

Leptin - full

127
Q

ST elevation in v5-6, I, AVL. What would make you say anterior lateral and what just lateral

A

v4 = anterolateral

Otherwise would be high lateral

128
Q

Tay-sachs common in which population? is due to? what does this mean? Usual presentation?
If presents later what is common sign?

Blood test?

A

Ashkenazi jews
[Another lipid motabolism like gauchers]

GM2 Ganglioside build-up which leads to increased lysosomal hydrolysis

Children develop normally and then regress and die

Can present in 20-30s if mild form with ‘cherry red’ spot in eye

Test for beta-hexosaminidase A activity

129
Q

Which Ig most present in secretions and provides protection against viruses at mucosal surfaces

A

IgA

130
Q

Which cells in the innate immune system

A

Monocytes, neutrophils, mast cells, complement, phagocytes (macrophages)

131
Q

Which cells recognise an antigenic motif using toll-like receptors? What is this called and then what happens?

A

Phagocytes (macrophages) recognise a PAMP which stimulates:

-Chemokine release - increase adhesions
-Cytokine release - attract other immune cells
-Complement release - kill

131
Q

Which cells recognise an antigenic motif using toll-like receptors? What is this called and then what happens?

A

Phagocytes (macrophages) recognise a PAMP which stimulates:

-Chemokine release - increase adhesions
-Cytokine release - attract other immune cells
-Complement release - kill

132
Q

What are the two parts of the adaptive immune system and basics of each? Which cells?

A

Humoural - mediated by B lymphocytes
-Circulating in body fluids to detect pathogens

[Pathogens can evade humoral system by hiding within cells]

Cellular
Cells use HLA presentation system (chrome 6 in MHC region] to present their contents to T-cells who identify if foreign

133
Q

Wierd use for BCG

A

intra vesical for Rx of bladder Ca in situ

134
Q

What is thing in G6PD

A

Glucose-6-phosphate dehydrogenase

135
Q

C5 deficiency leads to

A

Gram -ve sepsis

136
Q

C3 deficiency leads to

A

Overwhelming infection from encapsulated organisms

137
Q

-Mab to C5? Used for?

A

Eculizumab
Paroxysmal nocturnal Haemoglobinuria

138
Q

Gal presents with loss of fat -> defined upper arms and facial muscles? Usually follows? What is low/raised?

A

Acquired lipodystrophy often following an Infection - usually viral

Low levels C3, raised nephritic factor

139
Q

The external part of the neurone has what charge at rest

A

Positive

[Think of sodium influx]

140
Q

Why do people with ileostomies get hypoCa ?

A

Loss of Mg though ileostomy
HypoMg-> impairs PTH
->Hypo Ca

[Ca absorption is mostly in duodenum so it is not due to simple malabsorption of Ca]

141
Q

High LDL with normal Triglycerides =

When would you expect the other form of this

A

Heterozygous hypercholesterolaemia

Homozygous if cholesterol >12 and very early MI

142
Q

High Triglycerides with normal LDL

A

Heterozygous hypertriglyceridaemia

143
Q

Multiple relapses of nephrotic syndrome Rx long term

A

Cyclophosphamide

144
Q

Which hypersensitivity if rash few hours after latex gloves

A

Type 4

[Hives / urticarial rash immediately would be type 1]

145
Q

Develops lupus early - due to which deficiency

A

C4 [or C1 / C2]

146
Q

Which cells produce TNFa

A

Macrophages

[eosinophils produce a little bit]

147
Q

Correlation coefficients range from

A

-1 to 1

148
Q

Gold standard Dx of pemphigoid

A

Peri-lesional skin biopsy for examination with immunofluorescence

149
Q

Diabetes + sensory neural deafness in which syndrome? Inheritance?

A

DIDMOAD
Recessive

150
Q

Where does RNA splicing occur

A

Nucleus

151
Q

What happening if exercise -> pain in muscles but a paradoxical decrease in lactate at this time?
Deficient in?

A

Inadequate muscle glycogenolysis

[McArdle disease due to deficiency of muscle phosphorylase]

152
Q

Which ig deficiency in coeliac

A

IgA

153
Q

What is usual location of actin

A

Cytoskeleton

154
Q

Which nerve commonly affected by humerus fractures? Seonsory / motor Sx?

A

Radial
Loss of sensation to dorsal forearm

Forearm extension, finger extension

155
Q

Weakness of elbow flexion and supination. Sensory loss of lateral forearm. Nerve name?

A

Musculocutaneous

156
Q

VHL and MEN2a differentiate based on renal Cancers

A

Both risk phaeo
Only VHL increased renal cell carcinoma

157
Q

What is post-marketing survellience used for

A

Adverse effect profile

158
Q

Comparing means between 2 groups with skewed data

A

Mann-whitney-U test

159
Q

A condition which affects males and females but males by much more has which pattern of inheritance

A

X linked dominant

160
Q

which antibody has highest negative predictive value in SLE

A

Negative ANA

161
Q

What has more energy per gram LDL or triglyceride

A

Triglyceride

[LDLipoprotein] - has protein in it so less energy]

162
Q

Imatinib in which GI tumour

A

GIST

163
Q

Churg straus antibody

A

Myeloperoxidase (in 50%)

164
Q

Major crieterion (non-skeletal) for marfans

A

ectopia lentis
aortic root dilation/dissection
dural ectasia

165
Q

Tall, Hypermobile joints with very blue eyes, easy bruising and only moderate skin elasticity

A

Hypermobility Elhers danlos

[Classical has very elastic skin]

166
Q

Hereditory haemochromatosis chromosome

A

6

167
Q

What does the tetanus and botox toxin do

A

Cleaves parts of VAMP (Synaptobrevin)

168
Q

Accident involving being suspended from arm now weakness of intrinsic muscles of hand and long extensor muscles of fingers = damage where

A

C8,T1

169
Q

Rx of acute hypoNa <48hrs with symptoms

A

Hypertonic Na

170
Q

Valine substitution of position 6 of the b-globin chain in?

A

Sickle cell

171
Q

Periodic fever in which Ig excess

A

IgD

172
Q

long distance running uses what for energy

A

Fatty acid oxidation

173
Q

Investigation of Friedrich’s ataxia or other trinucleotide repeat disorders?

A

TP-PCR
[Triplet-repeat Primed- PCR]

174
Q

Optimum Rx of acute hereditary angioedema with laryngeal oedema

A

C1 inhibitor concentrate

175
Q

Prolonged history pain and neck. Weak abductor pollis brevis =

A

Cervical rib
[specifically involves C8/T1 root]

176
Q

Plotting baseline data from a trial including height, weight and BP. Best way to plot it?

A

Box and whisker

177
Q

Hypoxia effect on pulm vessles

A

Constrict -> allows blood to be directed towards areas of lung with higher o2 levels
-Improves V/Q ratio

178
Q

Ochronosis another name for?

A

alkaptonuria
[homogenistic acid oxidase deficiency]

179
Q

digoxin toxicity. Enzyme abnormality that needs correcting

A

HypoK

180
Q

IgG 1-3 subclass deficiency leads to

A

1 - general immunodeficiency
2 - Recurrent polysaccharide coated eg H influenza
3 - Chronic sinusitis

181
Q

Recurrent laryngeal damage leads to horse voice why

A

posterior cricoarytenoid muscle paralysis

182
Q

Hyperacute rejection HLA

A

HLA- C
IgG

183
Q

Hypophosphataemic rickets inheritance

A

X linked dominant

184
Q

1st drug rx for acute intermittent porphyria acute attack

A

Haem arginate

185
Q

Power of study is for

A

Probability of correctly rejecting the null hypothesis

186
Q

HOCM which mutationmost common? if 16 year old collapses?

A

Myosin binding protein C - Slightly older [this one is more common overall]

B-myosin heavy chain - young with pronounced septal hypertrophy

187
Q

Why hyperCa in sarcoid

A

Increased 1,25 vit D

188
Q

Where is troponin found

A

Adjacent to thin filaments

189
Q

C1 esterase deficiency vs anaphylaxis in q

A

No urticaria / hives in c1 esterase

190
Q

Pyruvate kinase is the rate-limiting step in

A

Glycolysis and gluconeogenesis

191
Q

Second line rx for SLE but worried about neutropenia

A

Mycophenolate
[inhibits purines and so selectively inhibits activated B and T lymphocytes]

192
Q

In a cell what is the function of lysosomes?
Peroxisomes?

A

Lyso - breakdown biological polymers Eg polypeptides

Perox - breakdown long chain fatty acids for use by the mitochondria

193
Q

In a cell what is the function of
Ribosomes?
Golgi apparatus?

A

Ribosomes - manufacture of proteins

Golgi - post-translational protein modification

194
Q

In a cell what is the function of
Smooth endoplasmic reticulum

A

Production of steroid hormones

195
Q

How to calculate standard error

A

SD/ √n

196
Q

p53 affects where in cell cycle

A

G1/S