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MRCP PART 1 > Cells, clinical biochem, anatomy and physiology > Flashcards

Cells, clinical biochem, anatomy and physiology Flashcards

1
Q

Cushings with raised ACTH. No suppression on low-dose dex. >50% suppression with high dose. Where is ACTH being produced?

A

Pit (cushings disease)

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2
Q

Cushing’s with raised ACTH. Suppression on low-dose dex. . Where is ACTH being produced?

A

Adrenal

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3
Q

Cushing’s with raised ACTH. No suppression on low-dose dex. no suppression with a high dose. Where is ACTH being produced?

A

Ectopic tumour eg SS Lung / carcinoid

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4
Q

Foot drop + sensory loss lateral lower leg nerve? Rx?

A

Common peroneal
Physio + splint while recovering

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5
Q

Quads weakness/wasting. Loss of knee reflex. nerve? Where is paraesthesia?

A

femoral
Medial thigh. Anteriomedial calf (L2-4 dermatome)

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6
Q

Hip adductors nerve root?

A

L3

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7
Q

Knee extension nerve root?

A

L3/4

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8
Q

Pt buying over the counter anti-indegestion tablets -> Epi gastic tenderness + raised Ca/K

A

Milk-alkali syndrome

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9
Q

3 things which stimulate PTH release

A

HypoCa
HyperPO4
low vit D

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10
Q

Golfers elbow (medial epicondylitis) affects which nerve? Weakness?

A

Ulnar
Adduction of thumb (grip strength) - adductor pollicis

[Test with the paper test -> when pull out have to flex thumb as adduction not there]

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11
Q

Sensory loss snuff box

A

Radial

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12
Q

Numbness on lateral thigh

A

Lateral cutaneous femoral nerve

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13
Q

Which nerve supplies the interossei muscles of hand

A

Ulnar

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14
Q

Wrist drop caused by

A

Radial

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15
Q

Hypoglossal damage ->

A

Loss of intrinsic muscles on that side of tongue

[Will deviate towards the side of lesion as fibres ‘push’ tongue away]

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16
Q

Lead poisoning on bloods

A

anaemia
basophilic stippling on blood film

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17
Q

Why do thiazide diuretics cause hypokalaemia? H+ effect? Why are they effective antihypertensive?

A

Increase sodium loss in distal convoluted tubule
=>Increased sodium reabsorption from sodium pump in exchange for potassium

-> Hypokalaemic alkalosis
+ hyperCa and hypourineCa

Affect renal prostaglandins -> hypotension

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18
Q

Phase 0 of action potential

A

Influx of sodium

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19
Q

Kcal in dextrose / lipid emulsions - only thing to remember

A

1L of 50% dextrose = 2000 kcals
1L of 20% lipid = 2000 kcals

Eg if pt needs 2500kcals then will need 1.25L of above

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20
Q

Which artery supplies L atrium

A

Circumflex (off LAD)

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21
Q

L marginal artery supplies

A

Left ventricle

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22
Q

CAH - if presents in late teens with hairy and amenorrhea is what enzyme? What does this lead to?
If presents with salt wasting in child?

A

Partial 21-hydroxylase deficiency
This leads to an increase in 17-hydroxyprogesterone - >virulisation

Total 21-hydroxylase deficiency
->Salt wasting and Addisonian crisis in child

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23
Q

How does 17-hydroxylase deficiency present

A

Delayed puberty + mineral corticoid excess

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24
Q

Largest arteries from circle of Willis

A

Middle cerebral

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25
Q

Where do vertebral arteries meet to form circle of willis

A

Brainstem

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26
Q

In who and why can heparin cause hyperK?

A

Diabetes or acidotic

->Heparin inhibits aldosterone secretion from the adrenal cortex -> reduced renal K excretion

ie you get hyperkalemia and no significant AKI

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27
Q

When do you get pseudohyperkalaemia ?
(3 reasons)

A

Haemolysed sample

High platelets / WCC

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28
Q

Urinary sodium in ATN?

A

Goes up
[>20mmol/l

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29
Q

Nitrates are often used in unstable angina. Which vessels are affected most?

A

Large veins
-> reduces preload

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30
Q

HypoK, HyperCl metabolic acidosis most likely

A

Chronic Laxative abuse

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31
Q

Barter syndrome electrolytes acid?

A

Hypokalaemia, HypoCa
HyperCa-uria
Metabolic alkalosis

Sensory neural hearing loss

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32
Q

Guiltellam syndrome electrolytes acid?

A

HypoK
HypoMg
HypoCa (normal urineCa)
Metabolic Alkalosis

Its all low G

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33
Q

Liddles syndrome electrolytes? acid?

A

Hypertensive*
HypoK
Metabolic alkalosis

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34
Q

Differentiate barter and gilelman

A

Barter has SN hearing loss and high Ca in urine

G- all electrolytes are low in blood

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35
Q

metabolic acidosis. What signals increased respiratory drive?

A

Carotid bodies in common carotid (chemoreceptors)

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36
Q

Which superficial veins drain into cavernous sinus? Sx?

A

Upper lip -> veins drain into cavernous sinus

Total ophthalmoplegia
-CN 3,4,6 travel through
horners syndrome (sympathetic plexus)
Facial paraesthesia

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37
Q

Where is BNP produced

A

Cardiac ventricles (stretching)

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38
Q

Apex of lung vs base when standing. Which has higher PCO2? V/Q? Compliance?

A

Apex at top so less blood
->Increased V/Q
->Increased O2 and decreased CO2

Base more compressed so can expand more as starts more squished as a baseline
->Increased compliance

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39
Q

Nerve root damage causing global wasting of hand muscles

A

T1

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40
Q

When would you use Demeclocycline

A

HypoNa not responding to fluid restriction
(or use hypertonic saline)

Also used for some infections Eg chlamid / rickettsia / mycoplasma

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41
Q

Gilbert’s syndrome what do you get?

A

Isolated unconjugated bilirubin

This alongside an absence of bilirubin in urine
[as bilirubin needs to be conjugated before going into urine]

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42
Q

Calculate anion gap

A

Na - (Cl + HCO3)

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43
Q

Biceps / triceps reflex nerve root

A

Biceps - C5/6
Triceps - C7

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44
Q

During exercise why is CO increased

A

Increased SV and HR

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45
Q

Which cancer secretes PTH-related peptide?

A

Squamous most commonly

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46
Q

Odds =?

A

Odds = number of new cases in time period/number who did not become a case in the time period

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47
Q

What is person at time risk used for? other name?

A

• Not everyone is at risk for full length of time so use incidence rate 


• incidence rate = Number of new cases in time period / total person time at risk during time period


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48
Q

What is prevelence ratio

A

Prevalence ratio = Prevalence in exposed / prevalence in unexposed 


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49
Q

What is Relative risk? relative risk reduction?

A

Risk ratio (Relative risk) = Risk in exposed / risk in unexposed
Relative risk reduction = 1-RR

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50
Q

How do you calculate absolute risk reduction?
NNT?

A

Absolute risk reduction = Risk in unexposed – Risk in exposed
NNT = 1/ARR

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51
Q

What is odds ratio? why wold you calculate

A

Odds ratio = Odds of outcome in exposed / odds of outcome in unexposed

Used in case control as cant calculate risk

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52
Q

How are odds and risk seperate?

A

• Odds - comparison of who experienced exposure and who did not.


• Risk is comparison of people who had exposure vs everyone in the group

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53
Q

PPV? is it higher with good sens or spec?

A

Positive predicted value - the proportion of people with a positive test result who actually have the disease
• a / a+b

High specificity = high PPV

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54
Q

What are lead time and length time biases

A

Lead time- Diagnose earlier
Length time – More likely to identify slow diseases

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55
Q

Mortality in control 12.5%. Relative Risk in trial group of 0.8. What is NNT ?

A

Need to calculate ARR

A) Calculate mortality in trial group
= 12.5x0.8 = 10%

B) Calculate ARR
=12.5-10= 2.5%

nnt=1/arr
1/0.025 = 40

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56
Q

What does a larger sample size do? Reduces risk of what error?

A

Makes estimate more precise and reduces risk of Type 2 error

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57
Q

Type 1 error is?

A

Rejecting null hypothesis when it is true

Ie chance
-Usually fixed before the study p<0.05

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58
Q

Calculate NPV
What makes it higher?

A

Negative predictive value – the proportion of people with a negative test result who do not have the disease
• d/ c+d

High sensitivity = high NPV

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59
Q

What does the intention to treat mean in a study?

A

Total recruited for it
ie if 500 control and 500 new drug.

It is irrelevant how may people drop out during study the INTENTION is what you intended at the start

=500 control, 500 drug

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60
Q

Cancer in 15/50 on treatment
Cancer in 20/50 on placebo

What is RRR

A

(Relative risk) = Risk in exposed / risk in unexposed

RR = (15/50) / (20/50) = 3/4

Relative risk reduction = 1-RR
=25%

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61
Q

ARR calculation

A

Absolute risk reduction = Risk in unexposed – Risk in exposed

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62
Q

Why is bechets different from many other vasculitis ?

A

Affects veins too

Can get arterial and venous thrombotic events

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63
Q

HIV have deficiency of what cell type predominantly

A

cd4 T-cells

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64
Q

Compare skin in NF1 and tuberous sclerosis

A

NF1 - Cafe-au-lait, freckling in auxiliary/groin,

TS - HYPOpigmented macules (ash leaf), angiofibroma, shagreen patches (raised connective tissue lesion on lower back)

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65
Q

Which antibodies in autoimmune encephalitis

A

anti-LGI 1

[previously called anti-VGKC)

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66
Q

Presnece of M protein but no end organ damage
Eg NO lytic lesions / hyperCa / anaemia / ckd

A

MGUS
[premalignant condition with 1% risk of myeloma each year]

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67
Q

Blistering rash on sun exposed areas,
hyperpigmentation
often dark urine =? Usual trigger? cause? ix?Rx?

A

Porphyria cutanea tarda

Alcohol

Deficiency in UROD (uroporphyrinogen decarboxylase)

Plasma/urine porphyrins + iron overload

Plebotomy

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68
Q

Multiple presentations with neuropsychiatric distubances, hypertension and abdo pain?

A

Acute Intermittent Porphyria (AIP)

[Due to deficiency of hydroxymethylbilane synthase (HMBS)]

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69
Q

Types I-IV hypersensitivity reactions and cells

A

I - Allergic reactions - IgE/mast/basophils

ii - antibody dependent - IgG
-Eg drug induced haemolytic anaemia, transfusion reactions, goodpastures

III - Immune complex - immune complexes
-Eg Post strep GN, SLE

IV - cell mediated - T cells
contact dermatitis, BCG

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70
Q

IgE deficiency leads to inceased risk of?

A

viral and parasitic infections

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71
Q

IgD deficinecy leads to? Which ethnic group?

A

small increased risk of minor infections Et URTIs

Pt will be Spanish in question

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72
Q

Raised IgE (Or any thing) in are normal in what % of population

A

2.5%

In a normal distribution, 95% of values are within 2 standard deviations of the mean. So raised in 2.5% and low in 2.5%

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73
Q

Phaeo, cushings and what thyroid cancer in which syndrome? Due to mutations of what

A

Medullary
MEN2a

RET protooncogene

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74
Q

Hereditary spherocytosis defect in what

A

Spectrin and ankyrin

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75
Q

IgA deficiency ->

A

Deficiency of IgG2
-> Recurrent bacterial infections

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76
Q

which Ig deficinecy most common in recurrent mild bacterial infections

A

IgA

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77
Q

Ig A/D/E/G/M deficiency basics

A

A - increased risk of bacterial infections + allergic reaction to blood products (containing IgA)
D - no real increased risk of anything
E - Viral and parasitic eg parvovirus / maleria
G - Recurrent otitis media and sinopulm infection
M - Recurrent gram -ve eg Pseudomonas

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78
Q

Short stature, short 5th metacarpals, sub cut calcification, hypocalcaemia, intellectual impairment = ? due to?

A

PseudoHYPOparathyroidism

G protein linked to PTH receptor

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79
Q

Mild haemophillia should get what prior to procedures

A

Desmopressin

+ Factor VIII if significant bleeding

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80
Q

Haemophilia coag screen

A

normal PT (and VWF)
prolonged APTT

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81
Q

Anti-smith

A

Highly specific SLE

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82
Q

Mixed connective tissue disease (MTCD)
-raynauds, myositis, interstitial lung disease, pericarditis….
has what antibody?

A

Anti-RNP
Ribonucleoprotein

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83
Q

Neonatal lupus antibody ? presents with?

A

Anti-Ro
Bradycardia + heart block

baby ro ro

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84
Q

Most common infection post splenectomy

A

pneumococcus

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85
Q

Most common infection post splenectomy

A

pneumococcus

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86
Q

Why ANA positive in vauge symptoms of fatigue in middle age

A

ANA is age related and titre increases with age.

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86
Q

Muscular dystrophy which affects FACE eg ptosis / cataracts

A

Myotonic muscular dystrophy

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87
Q

Score system for pressure ulcers

A

waterlow score

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88
Q

Way to present meta analysis as plot

A

forrest plot - (looks like box and whiskers on its side )

shows OR with each blob being size of importance of each study

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89
Q

Carpal tunnel pain affects where

A

hand and sometimes up forearm and even shoulder
[all along median nerve)

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90
Q

What enzyme stimulates release of pancreatic enzymes?

A

CCK

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91
Q

Achondroplasia inheritance. What are the odds of a child from couple with this not having achondroplasia

A

Dominant

=25% risk not having it

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92
Q

Which Ig makes up 75% of total serum Igs

A

IgG

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93
Q

All nerves from lumbar plexus emerge lateral to the psoas bar?

A

Genitofemoral and obturator

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94
Q

Which Anti-body can cross placenta?

Brest millk?

A

G - looks like a curved placenta

A - Aeyyy look at those titties

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95
Q

abnormal ears, short philtrum, micrognathia, hypertelorism (distance between eyes). What syndrome? Blood finding? why tetany?

A

Di geroge
Low T-lymphocytes -> infections
-Absence of normal thymus

Congenital cardiac

HypoCa tetany due to failure of Parathyroid development

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96
Q

PPV in terms of what the letters mean!

Sometimes give you a table the wrong way round to fool ya

A

Those with a disease and a positive test / All with a Positive test

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97
Q

Around mean where do 95% of values lie?
How do you say you are 95% confident of where the mean lies?

A

2 SD’s

95% confident the true mean is 2 standard errors from the mean you have calculated

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98
Q

Which layer of skin is a mantoux test injected into

A

intradermal

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99
Q

Mechanism of angiooedema in ACEi

A

bradykinin release

100
Q

Alkaptonuria (black urine), arthritis. Blue ears, CV disease in later life =

A

Homogentisic oxidase deficiency

101
Q

How does sunburn damage you

A

formation of pyrimidine dimers

102
Q

First ECG change in hyperkalaemia

A

Tall T waves

103
Q

Liver fibrosis - which cells do the stimulation? Which do the fibrosing

A

Kupffer cells - stimulate

Stellate cells (basically fibroblasts)- do the fibrosing

104
Q

Latex allergy also which food allergies commonly?

A

Banana
Kiwi
Avacado
Chesnut

105
Q

How does hyaline cartilage get its nutrients

A

Diffusion from synovial fluid

106
Q

Painless jaundice:
3 things on bloods that would make you think alcohol related hepatitis rather than pancreatic CA

A

High MCV
High GGT
AST:ALT ratio >2

107
Q

Tall, hypogonad and low fertility man. Boobies/wide hips? On bloods?

A

Klienfelter
XXY

Low testosterone
High FSH/LH

108
Q

Major trauma -> high glucose after 4 hrs caused by?

A

Adrenaline

Later on will be cortisol

109
Q

Eat fish
Anaphylaxis-like symptoms with normal tryptase and IgE?

A

Scromboid poisoning

110
Q

What does reverse transcriptase do?

A

Transcribes DNA from RNA

111
Q

What does helicase do?

A

Splits DNA strands

112
Q

What does DNA polymerase do?

A

Adds nucleotides to single strands of DNA

113
Q

What does RNA polymerase do?

A

Transcribe RNA from DNA

114
Q

Protein aggregation -> lewy body production means what is involved

A

Proteasome

115
Q

Posterior lens dislocation. Marfanoid habitus. DVTs. Learning difficulty

A

Homocystinuria

[also have a high arched palate and crowded teeth]

116
Q

Homocystinuria has 3 forms. Classical type 1
type 2
type 3

A

Classical - Vit B6 (pyridoxine) deficiency (due to lack of cystathionine-beta-synthase CBS)

Type 2 - issue with methylation of B12
(Colabamin)

Type 3 - issue with methylation of B9 (folate)

117
Q

When do you get activation of the non-classical complement pathway

A

Gram-negative sepsis

118
Q

Blood gas in preg usually

A

Respiratory alkalosis

119
Q

Lots of people drop out a study - what type of analysis should you do?

A

Sensitivity analysis
[Ie check if there was differences with the people who dropped out and those who did not]

120
Q

Bleomycin works how

A

Single DNA strand sission

121
Q

Multiple family members have a genetic condition (and some don’t) but the gene isn’t known. What test can be done to track the allele

A

Linkagae analysis

[compares DNA of aSx and those with it to track the allele]

122
Q

What to compare outcomes of patients admitted in day vs at night. How to avoid selection bias

A

Case mix (risk) adjustment

i.e as patients admitted in day might be elective and less sick. So need to control for confounding factors

[If not randomisation is always best for avoiding selection bias. Its just not possible in this case and cant control when people are admitted]

123
Q

Where and by what is intrinsic factor produced

A

Parietal cells in fundus of stomach

124
Q

Name a diuretic that works on:
Proximal tubule
Ascending loop of henle
Early distal tubule
Collecing ducts (and late distal tubule)

A

Proximal tubule - Mannitol / acetazolamide

Ascending loop of Henle - Loop diruretics

Early distal tubule - Thiazide diuretics

Collecting ducts (and late distal tubule) - K plus sparing (amiloride / spironolactone)

125
Q

What does nuclease do

A

Cleaves bonds between nucleic acid sub units

126
Q

Pancreatic adenocarcinoma gene

A

KRAS (80%)
p53 (50%)

127
Q

What are the most common type of inherited disorder

A

sex-linked (x chromasome)

128
Q

Multiple fractures, bilat hearing loss, teeth discolouration =

A

Osteogenesis imperfecta

129
Q

Antibodies in lambert Eaton myasthenic syndrome

A

Voltage-gated calcium channel antibodies

130
Q

Which test to compare means between 2 groups with normal distribution?

A

T-test
[Paired if measuring a pre and post score in groups]

131
Q

Blood gas of cirrhosis will show? Why?

A

Metabolic alkalosis

Relative Low intravascular volume due to low albumin
->Increase aldosterone

1 - Albumin is a weak acid and so low levels -> alkalosis
2 - Aldosterone Na absorption K excretion -> later in collecting duct K+ exchanged for H+

132
Q

Inguinal vs femoral hernia position? Which strangulates? Which is more common?

A

Inguinal - above and medial to the pubic tubercle
10x more common

Femoral - inferior and lateral
Much higher risk of strangulation

133
Q

Morphine -> comes out in a red rash what cells?

A

Histamine release from direct action on mast cells

[NOT IgE mediated and so can’t do a skin prick]

134
Q

Hereditary angioedema issue? Due to?
What would be low between attacks?

A

C1 esterase inhibitor
SERPING 1 gene
Low levels of c4 between attacks

Autosomal dominant inheritance

135
Q

This condition lead to high levels of an Ig? and almost undetectable levels of ? risk of?

A

hyper-IgM syndrome
IgA, IgG and IgE levels are undetectable

->sino/pulm infections and opertunistic Eg PCP / crytosporidial

136
Q

What is name of B6

A

pyridoxine

137
Q

What is name of B9

A

Folate

138
Q

Vit B2 name

A

Riboflavin

139
Q

Vit b3 name

A

Niacin

140
Q

Where is cell is circular DNA found

A

Mitochondria

141
Q

Classic serum lipids in diabetes

A

Normal LDL
Low HDL
Raised triglycerides

[due to insulin resistance or isulinopenia]

142
Q

Lateral STEMI which vessel
Inferior STEMI which vessel

A

Distal LAD
Right coronary

143
Q

Posterior myocardial infarction looks like? which vessel

A

Posterior coronary
Depression in anterior leads

144
Q

Posterior myocardial infarction looks like? which vessel

A

Posterior coronary
Depression in the anterior leads

145
Q

What are analytical statistics sometimes called

A

inferential statistics

146
Q

Severe combined immunodeficiency (SCID) Lack what? What does this do?

A

Adenosine deaminase

Usually Converts adenosine ->inosine
and deoxyadenosine -> deoxynosine

High levels of deoxyadenosine
->toxic to lymphocytes (especially immature ones in thymus)
-> symptoms of immunodeficiency due to lymphopenia

147
Q

G6PD inheritance

A

X linked

148
Q

Impaired glucose tolerance vs diabetes on OGTT

A

Impaired
Fasting <7
2hr 7.8-11

Diabetes
Fasting >7
2hr >11

149
Q

Which cholesterol in familial hypertriglycerideaemia?
Where are these synthesised?
Risk of?

A

VLDL synthesised continuously in the liver
Retinal vein thrombosis / pancreatitis when level >11mmol/L

150
Q

Which complement in the classical pathway ?
Which in alternative ?

A

Classical C1 [c2, c4]

Alternative C3
[alternative is continuously activated at low level]

151
Q

Most common inherited disorder in northern Europe

A

A1AT

[CF is highest in UK / States]

152
Q

Where is a-1antitriptase produced? Which gene?

A

Liver
SERPINA1

153
Q

Ashkenazi jew
Bone pain / hepatosplenomegaly
Normochromic normocytic anaemia
Elevated transaminases?
What are the other types of this?
Due to?

A

Gaucher’s disease Type 1
Type 2/3 have neurological sequale

elevated glucosylceramide in lysosomes [deficient glucocerebrosidase]

154
Q

Ashkenazi jew
Bone pain / hepatosplenomegaly
Normochromic normocytic anaemia
Elevated transaminases?
What are the other types of this?
Due to?
What other key finding on blood

A

Gaucher’s disease Type 1
Type 2/3 have neurological sequelae

elevated glucosylceramide in lysosomes [deficient glucocerebrosidase]
Raised ACID phhosphotase

155
Q

Where does the spinal cord terminate

A

L1/2

156
Q

What is found in the extradural space

A

Loose fat
[allows for ready diffusion of local anaesthetic in an extradural block]

157
Q

Drug has rare adverse outcome Eg 1 in 1000. How many people would you need to recruit to have 95% chance of picking at least 1 up?

A

3000

[need 3x as many participants as the rate of effec to have 95% power at picking it up ]

158
Q

What is surfactant made of

A

Phospholipoproteins

159
Q

What is the power of a study

A

The probability of correctly rejecting the null hypothesis
[avoiding type 2 error]

160
Q

UK Grade or evidence
A
B
C
D

A

A - Consistent RTC/Cohort validated in different populations

B- consistent retrospective cohort / case-control

C- case study or case series

D - expert opinion

161
Q

Mean/median/mode in Gaussian distribution

A

All the same
[Gaussian = normal]

162
Q

Mean/median/mode positive skew

A

mean>median>mode

163
Q

How to calculate the coefficient of variation ?- what is this?

A

SD/mean

An appropriate measure for distributions
[The higher the coefficient of variation, the greater the level of dispersion around the mean.]

164
Q

How to calculate NNT from exposure rates and outcomes

A

ARR =(Absolute risk in exposed)-(absolute risk in unexposed)

1/ARR

165
Q

What is the standard error

A

How precise the sample mean is from the population mean

166
Q

Type 1 vs type 2 error

A

Type 1 - incorrectly rejecting the null hypothesis - chance
Type 2 - incorrectly accepting the null hypothesis

167
Q

Comparing new drug X to old drug Y in effect on BP. How to present?

A

Mean and confidence interval for the difference in reduction of BP between the two groups

168
Q

Compare discontinuous categorical data test?

A

Chi-squared

169
Q

Test to see if observed results differ from expected if only 2 outcomes Eg Sucess or failure

A

Binomial

170
Q

Test when each individual in a group has been measured twice with normal distribution

A

Paired T-test

171
Q

Differences between two different groups in a variable of interest

A

Unpaired (students) t-test

172
Q

Eukaryote cell cycle?

A

M phase - mitosis

G1 phase - gap where cell grows + synthesises mRNA

S phase (synthesis) - DNA replication

G2 phase - cell grows and prepares for mitosis

[Interphase involves G1, S and G2]

173
Q

What phase is 95% of cell cycle time? What happens here

A

Interphase

chromosomes are decondensed and distributed throughout the nucleus

174
Q

which phase determines the variability of cell cycle length

A

G1 phase

175
Q

Severe hypertriglyceridemia Eg causing pancreatitis + tendon issues + xanthomata Rx ?

A

Fibrates 1st line
Omega 3 carboxylic acid - used as adjunct / alternative

[Statins not advised]

176
Q

Which mab lowers LDL cholesterol

A

Evolocumab

[man has evolved to love fatty food -> LDL]

177
Q

Fabry disease gene? Inheritance?
What happens?
Sx?
Seen on slit lamp?
Key risks?

A

a-Galactosidase A
X linked
Unable to break down GL3 which build up in lysosomes

Neuropathic pain in hands or feet especially during exercise
Mey get rash on abdo / GI Sx
Verticillata on slit lamp - vision unaffected

Cardiomyopathy / arrhythmias, strokes, CKD

178
Q

What is DNA splicing? Used for?

A

Exclusion of introns (and joining together exons) to make proteins

Modify bacteria / yeast to produce human peptides Eg insulin

179
Q

Stages of mitosis

A

Prophase – The chromosomes shorten and thicken.
[Get Phat]

Metaphase – Chromosomes line up in the middle of the cell.
[Middle]

Anaphase – Chromatids break apart at the centromere and move to opposite poles.
[Apart]

Telophase – Two nuclei formed after nuclear envelopes reform around each group of chromosomes.

180
Q

Pemphigus Vulgaris is a disorder of

A

Desmoglein-3

181
Q

How would homocystinuria present in a question? Cause? Inheritance? Ix/blood findings? Common Rx?

A

Marfanoid / skeletal abnormalities
Learning difficulties
DVT
Hypotonia
Livedo reticularis

Cystathionine beta-synthase deficiency
Autosomal recessive

Elevated homocysteine in urine + blood
Increased methionine
Decreased cysteine

Methionine-restricted, cystine-supplemented diet
[think need to replace the cystine]

B6 - pyridoxine (converts homocysteine to cystine)
Low animal protein diet
[B9- folate replacement]

182
Q

Skeletal abnormalities, hypoparathyroidism and recurrent infections ? Deficient in what ?

A

T cells
[di geroge syndrome]

183
Q

Who gets anaphylaxis with blood products

A

IgA deficiency

184
Q

C3 deficiency results in

A

Overwhelming infections from encapsulated bacteria from young age
[need abx prophylaxis]

185
Q

IgM deficiency leads to?

A

Overwhelming encapsulated infections

186
Q

You hypothesise your new drug will reduce MIs by 20%. If it only reduces by 10% so you accept the null hypothesis.
What is this an example of?

A

Type 2 error
Incorrectly accepting the null hypothesis [as it has missed a positive effect]

187
Q

How is genetic testing done for Huntington

A

PCR
[now has triplet primed assays]

188
Q

What is it called when DNA polymerase goes down a section of DNA and excises an incorrect base and replaces it with the correct one ?

A

Proofreading

189
Q

What are Gaucher cells?

A

Lipid laden macrophages
[dur to macrophages being unable to digest glucocerebroside]

190
Q

How do basophils, mast cells and eosinophils release their granules? Why is this important?

A

The lysosome (intracellular and containing enzymes) binds to the plasma membrane of the cell and then discharges the contents out.

This allows extracellular degradation of larger infecting organisms Eg Protozoa/worms which cannot be intracellularly digested by phagocytosis

[Ie this is why eosinophils are raised in worm infections]

191
Q

Stages in phagocytosis

A

Chemotaxis
Ingestion within a phagosome
Intracellular enzymatic degradation
Exocytosis

192
Q

What does IL-5 do

A

essential for maturation of eosinophils/basophils in the bone marrow and their release into the blood

[Think IL 5 and E which is 5th letter]

193
Q

Formation of multiple telangiectasia/av malformation with hereditability in the question? Also known as? Inheritance? Usual presentation? What are the significant issues?

A

Hereditary haemorrhagic telangiectasia [Olser-weber-rendu - web of telangectasia]
Autosomal dominant

Usually present with nose bleed as a kid and should be a clue with telangiectasia.
Adults get serious GI (or cerebral) bleeds from AV malformations

193
Q

Formation of multiple telangiectasia/av malformation with hereditability in the question? Also known as? Inheritance? Usual presentation? What are the significant issues?

A

Hereditary haemorrhagic telangiectasia [Olser-weber-rendu - web of telangectasia]
Autosomal dominant

Usually present with nose bleed as a kid and should be a clue with telangiectasia.
Adults get serious GI (or cerebral) bleeds from AV malformations

194
Q

What are foam cells? Where are they found ?

A

Type of macrophage (derived from monocytes)
They take up LDL on the vessel wall but become saturated and lipid-laden and die in the vessel wall contributing to the formation of atherosclerosis.

195
Q

what is the 95% confidence interval

A

95% sure the true mean lies within the confidence interval

196
Q

Pit hormons all low. A single dose of GnRH makes a small difference but regular doses for a week raise all the hormones. Where is the issue?

A

Hypothalamus.

[By the end of the week the pit hormones all recovered indicatig the pituitary is capable of producing the hormones and so defect bmust be pre pit - ie the issue was from prolonged pit understimulations]

197
Q

Total gastrectomy - what are you deficient in?

A

B12 - as loose parietal cells which produce intrinsic factor….
[Iron in partial gasterctomy + proximal jej]

198
Q

Cox proportional hazards is ?

A

A survival analysis which works out amount of time which occurs before an event when comparing more than one covariate.

199
Q

Test to compare differences between 2 or more means?

A

Anova

200
Q

Test to compare categorical outcome between 2 groups

A

Chi-squared

201
Q

Test to assess the correlation between 2 variables

A

Pearson coefficient

202
Q

What type of chromosomal disorder carries the most severe phenotype

A

Unbalanced autosomal translocation

[Basically the bigger the effect on chromosomes the worse it is]

203
Q

Difference between angioedema from ACEi and angiooedema from histamine sources

A

No urticarial rash [or itching] in pure bradykinin-mediated angioedema (ACEi) or in hereditary angioedema

204
Q

If blood is not agglutinated by anti-A or B what type is it

A

OO

[ie cannot contain A or B antigens]

205
Q

Why do sickle cell need vaccines

A

Hyposplenism

206
Q

Sickle cell - How much HbS / HbA / HbF

A

70-90% HbS
10-30% HbF

No HbA - sickle cell is recessive

207
Q

Endothelin I does?

A

Vasoconstriction - mostly in pulm circulation

208
Q

Teriparatide is used for? How do you measure the response to it?

A

Osteoporosis

Using procollagen peptides
[-C-terminal (PICP)
-N-terminal (PCNP)
-Osteocalcin (OC)]

209
Q

Left homonymous hemaniopia with central sparing = lesion where

A

R occiptal cortex
[cortex has sparing of foveaa]

210
Q

Inheritance of BRCA

A

Dominant

211
Q

Which electrolyte finding most indicates CKD

A

HypoCa

212
Q

Fluid to replace that drained from NG

A

0.9% NaCl

213
Q

What is NO synthesised from in the body

A

L-arginine

214
Q

How do PDE-5 inhibitors cause vasodilation

A

Enhance NO mediated vasodilation

215
Q

What is riboflavin? Used for?

A

Vit B2
Hydrogen-transfer chain in mitochondria
[formation of ATP]

216
Q

Which vitamin modulates prostaglandin synthesis

A

Vit D

217
Q

Which vitamin for the synthesis of glycogen from glucose phosphate

A

Vit B6 - Pyridoxine

218
Q

Which vitamin for synthesis of amino acids

A

Folate - b9

219
Q

Which vitamin for synthesis of collagen

A

Vit C

220
Q

Severe pancreatitis and ++ nausea. What to do with respect for feeding?

A

NG feed
-Essesntial they keep getting the calories in

221
Q

Where is the organ of corti found? Endo or ectolymph?

A

Scala media (inner ear)
Scala media filled with endolymph

222
Q

Where are high frequenxy sounds detected? Low frequency

A

High - Scala vesibuli
Low-Scala tympani

[Vertigo is fear of high, and when you hit the low ground you go Tymph]

223
Q

Where is the inner ear found

A

Petrous part of temporal bone

224
Q

Where is endo lymph found?

Compare endo/ peri lymph

A

Bony labyrinth
[Semi-circular cannals
vestibule
cochlear]

Endolymph - High potassium
low in sodium and calcium

Perilymph high sodium
low in potassium and calcium

225
Q

Test to compare haemochromatosis and secondary iron overload? What is the difference?

A

Liver biopsy
Haemochromatosis - iron found in parenchymal cells
Secondary overload - Iron in kuppfer cells

226
Q

Which mutations in hereditary haemochromatosis

A

C282Y
H63D

227
Q

How does tranexamic acid work

A

Antifibrinolytic - therefore will stablise clots that form

228
Q

2 places VWF found?

A

-Weibel-palade bodies in endothelial cells
-platelet a-granules

229
Q

Which chromosome for VWD? inheritance?

A

12
AD

230
Q

Phase 0,1,2 cardiac action potential

A

0- Sodium inflow
1- Potassium outflow
2- Calcium inflow

[K+, Ca++]

231
Q

Gingival hypertrophy caused by
Which class of cardiac drugs?
Which anti-epileptic ?
Which immunosuppressant?
Which aBX ?

A

Calcium channel blockers

phenytoin [also valproate/vigabatrin/phenobarbital]

Ciclosporin

Erythromycin

232
Q

Pain on pronation = lateral or medial epicondylitis

A

Medial

233
Q

Medial epicondylitis may affect which nerve if severe

A

Ulnar

234
Q

UK grading of edicnce
Ia, Ib
IIa, IIb
III
IV

A

Ia: systematic review or meta-analysis of RCTs.
Ib: at least one RCT.

IIa: at least one well-designed controlled study without randomisation.
IIb: at least one well-designed quasi-experimental study, such as a cohort study.

III: well-designed non-experimental descriptive studies, such as comparative studies, correlation studies, case-control studies and case series.

IV: expert committee reports, opinions and/or clinical experience of respected authorities.

235
Q

alpha/beta/gamma interferon which for hepatitis? MS? which MHC class?

A

Alpha - HepB/C
Beta- MS
-a/b Increase MHC class 1 expression

y-Increase MHC class 2

236
Q

When does the body produce a/b interferon? Why?

A

Viral infections
-bind to uninfected cells and inhibit viral production RNA / DNA
-Induce MHC class 1 which causes cell lysis of viral infected cells

237
Q

Which interferon activates macrophage and neutrophil intracellular killing

A

A-interferon

238
Q

Which fruit causes itchy mouth in people with hayfever [birch-pollen syndrome]

A

Apple

239
Q

What receptor does cholera bind to causing profuse watery diarrhoea

A

GM1 agonism

240
Q

Where is CSF made? by which cell?
What absorbs it? What layer is it found?

A

Choroid plexus in the 4th ventricle
-Ependymal cells

Absorbed by arachnoid villi

Between pia and arachnoid

241
Q

Which cells are the macrophages of the brain

A

Microglia

242
Q

A/B/Theta/Delta waves EEG mean and Hz

A

Alpha waves are related to relaxation and attention. They are present when you are awake with your eyes closed.
8-13Hz

Beta waves are normal in people who are awake
>14Hz

Theta waves are related to sleep
4-7Hz [kids aged 4-7 not quite alspeep]

Delta waves - Sleep in adults
<4Hz

243
Q

New test 99% sensitive, 90% specific
Prevalence is 1 %
What is the PPV?

A

Draw table for 1000

10 have disease 990 don’t

a= 10 x 0.99(sensitivity) = 9.999= 10
d= 990 x 0.9(specificity) = 891

Can then fill in rest of table
PPV = 10/(10+99) = 92%

244
Q

Sens 92%, spec 93%
Prevalence = 1.2%
What is PPV

A

12 have disease 988 don’t

a= 12x0.92 = 11
d= 988x0.93 = 919
b = 988-919=69

PPV = 11/(11+69) = 14%

245
Q

EPO not helping anaemia in dialysis, what should you check?

A

Ferritin - probs iron defficiency

246
Q

Ring-shaped rash with peripheral crusting in pregnancy =

A

Pustular psorasis of pregancny
[prev called impetigo herpetiformis but its not actually an infection ]

247
Q

Bullous rash in pregnancy? what would biopsy show?

A

Pemphigoid gestationis
Linear deposits of C3

MRCP PART 1 (22 decks)

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