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Flashcards in Pastest 2 Deck (114)
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1
Q

What are exons?

A

Coding sequences of DNA which code for peptides produced from mRNA

2
Q

What is the function of introns?

A

Code for switches that control gene expression in splicing

3
Q

From where does hyaline cartilage receive its nutrients?

A

Diffuses from synovial fluid - it is avascular

4
Q

What type of collagen does hyaline cartilage contain?

A

Type 2

5
Q

What do chondrocytes secrete?

A

Proteoglycans and collagen

6
Q

What is the cause of familial hypercholesterolaemia?

A

LDL receptor dysfunction

Familial apolipoprotein B-100 or PCSK-9 mutation

7
Q

In which patients should you suspect familial hypercholesterolaemia?

A

Serum cholesterol >7.5mmol
Family/personal history of CHD before 60 years
Tendon xanthomas

8
Q

Pyruvate kinase is the rate limiting enzyme in which processes?

A

Glycolysis

Gluconeogenesis

9
Q

How do thiazides cause hypokalaemia?

A

Increase delivery of sodium to the DCT where sodium is reabsorbed and potassium excreted

10
Q

How does aciclovir work?

A

Converted into tri-phosphate form by host cell kinases

This allows it to incorporate into viral DNA resulting in chain termination

Viral DNA polymerase is then unable to function

11
Q

What is the treatment of an acute attack of acute intermittent porphyria?

A

IV haemin/300g dextrose IV

12
Q

What is the prophylaxis for acute intermittent porphyria attacks?

A

IV haem arginate once or twice weekly
- risk of iron overload
GnRH analogue
Liver transplant

13
Q

What is the equivalent prednisolone dose to match with glucocorticoid production in humans?

A

0.1mg per kg bodyweight

E.g 60kg –> 6mg

14
Q

What enzyme is high in the serum in Gaucher’s disease?

A

Acid phosphatase

15
Q

Which cytokines stimulate the HPA axis by inducing secretion of CRH from the hypothalamus?
And what is the function of this?

A

TNF-alpha
IL-1

Cortisol released which reduces the stress response and prevents a lethal over-activation of the immune response

16
Q

How do you reverse alteplase?

A

FFP and tranexamic acid

17
Q

What is the mechanism of action of alteplase?

A

Converts plasminogen to plasmin, which degrades fibrin

18
Q

What type of b-adrenoreceptors line the airways?

A

B2

19
Q

How do beta-2 agonists influence bronchodilation?

A

Relaxation of bronchial smooth muscle by affecting b-2 receptors
Inhibition of mast cell mediator release
Enhanced mucociliary clearance

20
Q

Why does tachycardia and increased cardiac output occur with b-2 agonists?

A

Stimulation of cardiac b-adrenoreceptors

Reflex response to peripheral vasodilation

21
Q

What is the most common mutation causing hereditary spherocytosis?

A

Spectrin and ankyrin

22
Q

What is the criteria for liver transplant following paracetamol toxicity?

A

pH <7.3

OR

INR>6.5 AND Creatinine>300 AND grade 3/4 encephalopathy

23
Q

What are 6 causes of large kidneys?

A
Amyloidosis
PKD
Stage 1 diabetic nephropathy
Hydronephrosis
Acromegaly
Renal vein thrombosis
24
Q

What is the treatment of radiation pneumonitis?

A

Prednisolone >60mg/day

25
Q

What is the cause of carpal tunnel syndrome in patients undergoing long term haemodialysis?

A

B2 microglobulin deposition

26
Q

What is the diastolic plop of left atrial myxomas?

A

The tumour is attached to the wall in a way so that it is mobile
It plops in and out of the mitral orifice, leading to a murmur that changes with position

27
Q

What is posterior column syndrome?

A

Tabes dorsalis - neurosyphilis

Loss of function of dorsal columns

28
Q

What metabolic abnormality is seen in aspirin overdose?

A

Initially respiratory alkalosis –> stimulates central respiratory centres causing rapid deep breathing

Then toxicity –> metabolic acidosis

29
Q

What type of bone is affected by osteoporosis and why?

A

Trabecular

Trabecular = outer surface and middle of bones.
Osteoclasts and osteoblasts inhabit surface of bones therefore trabecular bone is more subject to cell turnover

30
Q

How is giardiasis diagnosed?

A

Stool antigen test

31
Q

How do you prevent transfusion-related graft vs host disease in at risk patients such as Hodgkin’s lymphoma?

A

Irradiated blood products

32
Q

What is the cause of diarrhoea with metformin?

A

Bile acid malabsorption

33
Q

Which type of leukaemia is associated with DIC?

A

APML

34
Q

Where is the azygos lobe seen on CXRs?

A

Right upper zone behind medial end of clavicle
Reverse comma sign
0.5% CXRs

35
Q

Name 5 muscarinic effects

A
Miosis
Hypersalivation
Sweating
Diarrhoea
Bradycardia
Excessive bronchial secretions
36
Q

How do nerve agents and organophosphate poisoning work?

A

Inhibit AChE so ACh accumulates at nicotinic and muscarinic receptors

37
Q

Name 2 nicotinic effects

A

Muscle fasciculation

Tremor

38
Q

Which tumours secrete ACTH and what are the features?

A

Small cell lung cancer
Bronchial carcinoid

Weight loss, muscle weakness

39
Q

What is Bruce protocol exercise testing?

A

6 minutes of exercise testing

If can’t complete this, have a higher risk of cardiovascular adverse events –> cardiac angiography

40
Q

What are the different hypolipiproteinaemias associated with?

A
Type 1: eruptive xanthomas
Type 2: tendon xanthomas
Type 3: tubo-eruptive xanthomas
Type 4: eruptive xanthomas
Type 5: similar to type 1 + high VLDL and chylomicrons
41
Q

How does aprepitant treat chemotherapy induced nausea and vomiting?

A

Acts via neurokinin receptor, inhibits substance P

42
Q

What medication can reduce alcohol craving and how?

A

Acamprosate

Increases GABA actvitity

43
Q

What is the treatment of toxic alcohol poisoning e.g. ethylene glycol?

A

IV fomepizole - competitive inhibitor of alcohol dehydrogenase

44
Q

What is a disadvantage of crystalloid solutions?

A

Need a relatively large volume to restore intravascular volume

45
Q

What is a side effect of theophylline?

A

Agitation and insomnia

46
Q

What is Brodie’s abscess?

A

Chronic osteomyelitis of the knee

47
Q

What is J point depression a physiological response to?

A

Increase in HR

48
Q

How is pseudo-Cushing’s differentiated from simple obesity?

A

Slight rise in urinary free cortisol (from long term alcohol XS)

49
Q

What is HbcAb indicative of?

A

Prev hepatitis B infection

50
Q

What markers are seen in bronchial carcinoid?

A

Chromogranin A

Neuron specific enolase

51
Q

What is syringobulbia?

A

Syringomelia but the lower brainstem is also affected (Xiin nuclei)

52
Q

How does herceptin cause cardiomyopathy?

A

Inhibition of erb-b2 receptor

53
Q

With chest drains what does swinging of the drain mean?

A

The drain is still in contact with the pleural space

54
Q

What are the symptoms of cryptogenic pulmonary eosinophilia?

A
Malaise
Weight loss
Fever 
Raised ESR and eosinophils
Asthma in 50%
55
Q

What occurs if EPO therapy is started in CKD patients who also have iron deficiency anaemia?

A

Causes severe depletion of iron

56
Q

At what stage of CKD is EPO deficiency expected?

A

CKD 3

57
Q

What level of urine sodium suggests renal tubular acidosis (intrinsic renal cause)?

A

Over 40

58
Q

Why do basal alveoli demonstrate greater compliance than apical alveoli?

A

Basal alveoli are compressed by the weight of the lungs
Compliance is volume change per unit pressure change
Therefore ventilation reduced at the bases

59
Q

What is the cause of Crigler-Najjar syndrome?

A

Absence (T1 - autosomal recessive) or decrease (type 2 - autosomal recessive with pseudo-dominance) in glucuronyl transferase leading to severe unconjugated hyperbilirubinaemia

60
Q

What is the blood supply of the liver?

A

Portal vein - 75%

Hepatic artery - 25%

61
Q

Why does anaemia occur in lead poisoning?

A

Inhibition of ferrochelatase, decreased red cell lifespan, and reduced stability of red cell membrane

62
Q

How can you differentiate proximal LAD occlusion from distal LAD occlusion?

A

Proximal - STE in septal leads e.g. V1 and V2 - occlusion occurs before the septal branches

63
Q

What are the symptoms of alkaptonuria?

A

Urine turns dark on standing
Arthritis
Black/blue pigment layer in cartilage

64
Q

What is there a deficiency of in McArdle’s disease?

A

Muscle phosphorylase

65
Q

Why does hypokalaemia exacerbate digoxin toxicity?

A

Enhances binding of digoxin to Na/K pump

66
Q

Which type of renal disease has no immune deposits on renal biopsy?

A

Granulomatosis with polyangiitis

67
Q

What are IgA deficiency patients at risk of?

A

Developing coeliac disease

GI and sinus infections

68
Q

What is isotype suppression in multiple myeloma?

A

Normal IgG and IgA levels

69
Q

What is DNA splicing?

A

Introduction of additional exons

70
Q

Which complement deficiency is associated with early development of lupus?

A

C4

71
Q

Which vessels do nitrates have the largest effect on?

A

Large veins

72
Q

What is seen on ECG in posterior MI and what vessel does this correspond to?

A

ST depression leads V1-V3, large R wave

Proximal right coronary artery, left circumflex

73
Q

What is a similar syndrome to Wolf-Parkinson White syndrome?

A

Lown-Ganong-Levine

Short PR interval only

74
Q

Which calcium channel blocker is contra-indicated in malignant hypertension?

A

Nifedipine

75
Q

What are the indications for permanent pacing?

A
Complete heart block
Mobitz type 2 heart block
Drug resistant tachyarrhythmias
Persistent AV conduction blocks post MI
Sick sinus syndrome
76
Q

What part of the ECG corresponds with the first heart sound?

A

R wave

77
Q

What is the cause of paroxysmal nocturnal dyspnoea?

A

Increased atrial pressure

78
Q

What is systolic click-murmur syndrome

A

MV prolapse
Recurrent non-coronary chest pains

On standing/during Valsalva - ventricular volume gets smaller; midsystolic click and late systolic murmur move earlier in systole

79
Q

What can bundle branch blocks lead to?

A

Ventricular dyssynchrony –> heart failure

80
Q

Where are leads placed in cardiac resynchronization therapy?

A

Right atrium
Right ventricle
Left ventricle

81
Q

What is seen on blood film in myelofibrosis?

A

Nucleated red blood cells

Tear drop cells

82
Q

What are the main causes of aplastic anaemia (acquired and congenital)?

A

Congenital: Fanconi anaemia

Acquired: Cancer Tx, parvovirus B19, PNH, pregnancy, drugs (indomethacin, carbamazepine, phenytoin, chloramphenicol, propylthiouracil), SLE

83
Q

What is the criteria for severe and very severe aplastic anaemia, versus non severe aplastic anaemia?

A

Non severe: marrow cellularity <25%

Severe: 2 or more of: absolute neutrophil count (ANC) <0.5, platelets <20, reticulocytes <20 (peripheral)

Very severe: the above, and ANC<0.2

84
Q

What is the treatment of aplastic anaemia?

A

Non severe: Monitoring, blood transfusion + immunosuppressants e.g. anti-thymocyte globulin, lymphocyte globulin, ciclosporin

Severe: BM Tx if under 50 or immunosuppressants as above, eltrombopag (oral thrombopoietin receptor agonist)

85
Q

What suggests hyperviscosity on fundoscopy?

A

Papilloedema with distended retinal vasculature

86
Q

Which antigen is involved in the entry of plasmodium vivax into cells?

A

Duffy

87
Q

What antibodies are found in HIT?

A

Anti PF4 heparin antibodies

88
Q

What pathways of the coagulation cascade are represented by PT, APTT, and TT?

A

PT: extrinsic and final common
APTT: intrinsic and final common
TT: final common

89
Q

Which coagulation factors are part of the intrinsic pathway of the coagulation cascade?

A

VIII, IX, XI, XII

90
Q

What is clinically important bleeding in ITP?

A

Oral mucosal blood blisters
Intracerebral haemorrhage
Severe nosebleeds that do not stop with local measures
Severe menorrhagia that requires hormonal intervention

91
Q

What are the features of post-partum thyroiditis?

A

Triphasic pattern of thyrotoxicosis 1-6 months post partum, hypothyroidism, return to euthyroidism at 9-12 months post partum.

92
Q

What are the associations of polyglandular syndrome type 1?

A
Hypoparathyroidism
Mucocutaneous candidiasis
Adrenal insufficiency
Primary gonadal failure
Primary hypothyroidism
Autosomal recessive
93
Q

What are the associations of polyglandular syndrome type 2?

A

Adrenal insufficiency (100%)
Hypothyroidism
T1DM
Gonadal failure

94
Q

How is carcinoid syndrome diagnosed?

A

Urinary 5-HIAA collection

95
Q

How does glucagon resolve bradycardia in beta-blocker overdose?

A

Promotes formation of cyclic AMP

96
Q

How does cryptosporidium diarrhoea present in HIV patients?

A

Diarrhoea

No abdo pain or fever

97
Q

What is the 2nd most common malignancy in patients with FAP?

A

Duodenal adenoma with malignant transformation

98
Q

What antibodies are found in autoimmune hepatitis?

A

Type 1: ANA, anti-smooth muscle

Type 2: Anti-liver, kidney microsomal antibodies

99
Q

Which type of neuro-endocrine tumour is usually benign?

A

Insulinoma

100
Q

What are the features of carcinoid tumours?

A

Excessive 5-HT (serotonin) causing:

  • Flushing
  • Diarrhoea and abdo pain
  • Wheezing
  • Oedema
101
Q

What type of drug is terlipressin?

A

Prodrug of lysine vasopressin

102
Q

What is the significance of e antigen/antibody in hepatitis B?

A

Marker of infectivity:

  • E antigen +ve: high infectivity
  • E antibody +ve: low infectivity

E antigen always negative in people with pre-core mutations (false negative)

103
Q

What are the features of pseudohypoparathyroidism?

A

Hypocalcaemia –> seizures
Basal ganglia calcification
Round face, short stature, and shortening of 4th and 5th metacarpals

104
Q

What hormone levels are seen in PCOS?

A
High LH
Normal FSH
Normal oestrogen
High testosterone
Low sex hormone binding globulin (due to insulin resistance)
105
Q

When does secondary syphilis occur?

A

4-12 weeks after primary infection

106
Q

What are the features of secondary syphilis?

A

Pale pink symmetrical maculopapular rash on palms/soles/trunk
Condyloma lata - confluent plaques in flexures
Generalised lymphadenopathy
Muscle and joint pains

107
Q

What are the features of Darier’s disease?

A

Warty plaques in seborrhoeic areas
Palmar pits
Nail dystrophy
Autosomal dominant

108
Q

What is seen on biopsy in granuloma inguinale?

A

Donovan bodies

109
Q

What is seen on MRI in subacute degeneration of the cord?

A

Increased T2 weighted signal in the posterior columns

110
Q

When is carotid endarterectomy indicated?

A

Stenosis >50%

111
Q

What is the commonest cause of 6th nerve palsy?

A

Microvascular nerve palsy

112
Q

What is the difference between medical and surgical 3rd nerve palsy?

A
Medical = pupil sparing - caused by diabetes/ischaemia
Surgical = pupil involvement - compression of the nerve e.g. posterior communicating artery aneurysm
113
Q

How is tuberculous meningitis diagnosed?

A

CSF PCR

114
Q

What are the features of spinal bulbar muscular atrophy aka Kennedy syndrome

A

Perioral fasciculations
Androgen insensitivity
Proximal weakness and cramps