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clinical sciences Flashcards

1
Q

ATN histopath features

A

loss of nuclei and detachment of tubular cells from BM
dilatation of tubules
necrotic cells obstructing tubule lumen

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2
Q

stages of differentiation of erythrocyte (cell types)

A

haematocytoblast
proerythroblast
basophilic erythroblast
polychromatophilic erythroblast
normoblast (nucleus ejected)
reticulocyte (enters circulation)
erythrocyte

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3
Q

renal cortical vs medullary blood flow

A

renal cortical blood flow > medullary blood flow
therefore tubular cells more prone to ischaemia

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4
Q

what does GFR represent?

A

rate of plasma leaving capillaries and entering Bowman’s capsule

= (urine concentration x urine volume)/plasma concentration

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5
Q

loop of henle

A

thin ascending limb impermeable to water, permeable to Na+ and Cl-
thick ascending limb fluid is hypo osmotic, reabsorbs Na and Cl

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6
Q

what increases risk of calcium oxalate stones?

A

hypercalciuria, hyperoxoluria
hypocitraturia (citrate binds to calcium and makes it more soluble)
hyperuricosuria (may cause uric acid stones which calcium oxalate binds to)

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7
Q

what increases risk of cystine stones?

A

inherited recessive disorder of transmembrane cystine transport
decreases intestinal and renal absorption

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8
Q

what increases risk of uric acid stones?

A

low urinary pH
extensive tissue breakdown e.g. malignancy

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9
Q

what increases risk of calcium phosphate stones?

A

RTA type 1 and 3, high urinary pH

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10
Q

what increases risk of struvite stones?

A

urease producing bacteria
alkaline urine

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11
Q

where is renin secreted and what does it do?

A

juxtaglomerular cells
hydrolyses angiotensinogen to angiotensin I

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12
Q

factors stimulating renin secretion

A

hypotension, reduced renal perfusion
hyponatraemia
sympathetic stimulation
catecholaemines
erect posture

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13
Q

what drugs reduce renin secretion?

A

beta blockers
NSAIDs

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14
Q

adrenal cortex GFR ACD

A

zona Glomerulosa (outside)- mineralocorticoids, Aldosterone

zona Fasciculata (middle)- glucocorticoids, Cortisol

zona Reticularis (inside)- androgens, Dehydroepiandrosterone DHEA

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15
Q

what does angiotensin II do?

A

vasoconstriction of vascular SM (raised BP)
vasoconstriction of efferent arteriole (increased filtration)
stimulates thirst
stimulates aldosterone and ADH
increases PCT Na and H

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16
Q

what does ACE do?

A

in lungs
concerts angiotensin I to angiotensin II

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17
Q

what does aldosterone do?

A

released by zona glomerulosa in response to raised angiotensin II, potassium, ACTH
causes retention of Na+ in exchange for K/H in DCT

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18
Q

waxy casts in urine

A

advanced CKD

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19
Q

fatty casts in urine

A

nephrotic syndrome

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20
Q

phenylketonuria

A

autosomal recessive disorder of phenylalanine metabolism
chromo 12
learning difficulties, seizures
fair hair and blue eyes, eczema
musty urine and sweat

dx: heel prick test, hyperphenylalaninaemia, phenylpyruvic acid in urine

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21
Q

homocystinuria

A

autosomal recessive deficiency of cystathionine beta synthase
fine, fair hair
marfinoid, osteoporosis, kyphosis
learning difficulties, seizures
dislocation of lense, myopia
CTE

treat with vit B6

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22
Q

t helper cells

A

th1- cell mediated response and type IV delayed hypersensitivity
secrete IFNgamma, IL2, IL3

th2- antibody immunity, stimulate IgE
secrete IL4, 5, 6, 10, 13

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23
Q

adaptive immune response cells

A

t helper (CD3, CD4, TCR, CD28, IL2, organ rejection)
cytotoxic T cells (CD3, CD8, TCR, organ rejection)
B cells (humoral, antigen presenting, hyperacute organ rejection)
plasma cells (differentiated B cells, produces large amount of antibodies)

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24
Q

innate immune response cells

A

neutrophils
basophils
mast cells
eosinophils
monocytes
macrophages
natural killer cells
dendritic cells

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25
Q

basophil features

A

releases histamine
granules contain histamine and heparin
expresses IgE receptors
bilobed nucleus

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26
Q

mast cell features

A

similar to basophils
granules contain histamine and heparin
IgE receptors

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27
Q

eosinophil features

A

defends against protozoan and helminthic infections
bilobed nucleus

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28
Q

monocyte features

A

kidney shaped nucleus
differentiates into macrophage

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29
Q

macrophage features

A

phagocytosis
antigen presenting
IL1 source

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30
Q

dendritic cell features

A

antigen presenting

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31
Q

IgG

A

monomer
enhances phagocytosis
fixes complement, passes to fetal circulation
most abundant isotype in serum

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32
Q

igA

A

monomer/dimer
most predominant Ig in breast milk
also in digestive, resp, urogenital
provides localised protection on mucous membranes
transported across interior of cell via transcytosis

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33
Q

IgM

A

pentamer
first Ig to be secreted in response to infection
fixes complement but doesn’t pass to fetal circulation
anti A, B blood antibodies

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34
Q

IgD

A

activation of B cells
monomer

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35
Q

IgE

A

monomer
type 1 hypersensitivity
binds to Fc receptors on mast and basophils
immunity to parasites e.g. helminths
least abundant isotype in serum

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36
Q

features of DIC

A

prolonged clotting time
thrombocytopaenia
decreased fibrinogen
increased fibrinogen degradation products

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37
Q

causes of DIC

A

infection
malignancy
liver disease
obstetric complications
trauma incl dissecting AAA, burns, shock

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38
Q

adult vs child brain tumours

A

adult: supratentorial
child: infratentorial

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39
Q

glioblastoma features

A

solid with central necrosis, contrast enhancing rim
vasogenic oedema due to BBB disruption

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40
Q

meningioma

A

2nd most common primary brain tumour in adults
benign
arachnoid cap cells next to dura
compressional symptoms
spindle cells in concentric whorls, calcified psammoma bodies

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41
Q

vestibular schwannoma

A

from CNVIII
cerebellopontine angle
hearing loss, facial nerve palsy, tinnitus
assoc with NF2
Verocay bodies

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42
Q

pilocytic astrocytoma

A

most common primary brain tumour in children
Rosenthal fibres- corkscrew eosinophilic bundle

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43
Q

medulloblastoma

A

aggressive child brain tumour
infratentorial
spreads through CSF
small blue cells, rosette pattern

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44
Q

ependymoma

A

brain tumour
commonly in 4th ventricle
may cause hydrocephalus
perivascular pseudorosettes

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45
Q

oligodendroma

A

benign, slow growing brain tumour
frontal lobes
calcification with fried egg appearance

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46
Q

haemangioblastoma

A

cerebellum
assoc with VHL
foam cells and high vascularity

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47
Q

pituitary adenoma

A

benign
secretory or non secretory
micro < 1cm vs macro > 1cm

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48
Q

craniopharyngioma

A

most common paediatric supratentorial tumour
sellar region
remnants of Rathke’s pouch
hormonal disturbance, hydrocephalus, bitemporal hemianopia

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49
Q

cerebral perfusion pressure calculation

A

mean arterial pressure - intracranial pressure

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50
Q

brain tumours arising in what areas may reach considerable size before becoming symptomatic?

A

right temporal and frontal lobes

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51
Q

cranial nerve foramen

A

I: cribriform
II: optic canal
III: superior orbital fissure
IV: superior orbital fissure
V: SOF, foramen rotundum, foramen ovale
VI: SOF
VII: internal auditory meatus
VII: IAM
VIII: jugular foramen
IX: JF
X: JF
XI: JF
XII: hypoglossal canal

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52
Q

cranial nerves sensory vs motor vs both

A

I: Some
II: Say
III: Marry
IV: Money
V: But
VI: My
VII: Brother
VIII: Says
IX: Big
X: Brains
XI: Matter
XII: Most

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53
Q

cranial nerve reflexes

A

corneal- ophthalmic nerve afferent, facial nerve efferent
jaw jerk: trigeminal mandibular A, trigeminal mandibular E
gag: glossopharyngeal A, vagal E
carotid sinus: glossopharyngeal A, vagal E
pupillary light: optic A, oculomotor E
lacrimation: ophthalmic A, facial E

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54
Q

spinal cord grey matter

A

divided into Rexeds laminae
afferent fibres entering through dorsal roots usually terminate near point of entry but may travel in Lissauers tract to establish synaptic connections over several levels
dorsal horn tip: afferents, nociceptive stimuli
ventral horn: neurones innervating skeletal muscle

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55
Q

brown sequard

A

hemisection of cord
ipsi loss of proprioception and UMN signs
contra loss of pain and temp

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56
Q

spinal cord lesions below L1

A

tend to present with LMN signs

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57
Q

regulation of GH

A

increases secretion: GHRH, fasting, exercise, sleep
decreases secretion: glucose, somatostatin

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58
Q

causes of metabolic alkalosis

A

diuretics, vomiting
liquorice, carbenoxolone
hypokalaemia
primary hyperaldosteronism
cushings, bartter’s

activation of RAAS- aldosterone > Na reabsorption in exchange for H+
ECF depletion > Na, Cl loss activates RAAS
hypokalaemia: K shift from cells > H+ into cells to maintain neutrality

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59
Q

tertiary hyperparathyroidism

A

normal or high Ca
high PTH, ALP
normal/low PO4, vit D

result of ongoing PTH hyperplasia after correction of underlying renal disorder

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60
Q

prolactin regulation

A

constant inhibition by dopamine

increases secretion: thyrotropin releasing hormone, pregnancy, oestrogen, breastfeeding, sleep, stress, metoclopramide, antipsychotics

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61
Q

achondroplasia genetics

A

autosomal dominant
mutation in FGR3 gene

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62
Q

leukotrienes action

A

LB4- neutrophil chemotaxis
LA4, LC4, LD4, LE4- bronchoconstriction

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63
Q

action of vitamin D

A

increases plasma calcium and PO4

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64
Q

calcitonin action

A

secreted by C cells of thyroid
inhibits osteoclast
inhibits renal tubular absorption of calcium

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65
Q

types of osteogenesis imperfecta

A

1: insufficient quantity collagen
2: poor quantity and quality
3: poorly formed collagen
4: poor quality collagen

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66
Q

what drugs affect folate?

A

interfere with metabolism: trimethoprim, MTX, pyrimethamine
reduce absorption: phenytoin

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67
Q

iron absorption

A

Fe2+ ferrous more than fe3+ ferric
increased by vit C and gastric acid
decreased by PPI, tetracycline, gastric achlorhydria, tannins

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68
Q

leptin

A

produced by adipose tissues
acts on satiety centres in hypothalamus to reduce apetite
stimulates release of MSH and CRH
low levels stimulates release of neuropeptide Y

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69
Q

ghrelin

A

stimulates hunger
produced by P/D1 cells in fundus of stomach and epsilon cells of pancreas

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70
Q

vit B2

A

riboflavin
cofactor of FAD and FMN
deficiency results in angular chelitis

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71
Q

vitamin B3

A

niacin
water soluble
precursor to NAD+ and NADP+
deficiency results in pellagra

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72
Q

Hartnup’s disease

A

hereditary
reduces absorption of tryptophan
vit B3 deficiency

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73
Q

carcinoid syndrome vitamin deficiency

A

increased tryptophan metabolism to serotonin
vit B3 deficiency

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74
Q

vit B6

A

pyridoxine
water soluble
converted to PLP
deficiency > peripheral neuropathy, sideroblastic anaemia

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75
Q

vitamin C functions

A

(ascorbic acid)
antioxidant
collagen synthesis
iron absorption
norepinephrine synthesis

76
Q

vit C deficiency

A

defective synthesis of collagen > capillary fragility, poor wound healing
gingivitis, loose teeth
bleeding gums, haematuria, epistaxis
general malaise
follicular hyperkeratosis and perifollicular haemorrhage
ecchymosis
sjogren’s
arthralgia
oedema

77
Q

vit D action

A

converted to prohormone calcifediol in liver
calcifediol converted to calcitriol in kidneys

78
Q

sources of vit D

A

D2: plants
D3: dairy, sunlight on skin

79
Q

vit D resistant rickets

A

X linked dominant
presents in infancy with failure to thrive
impaired PO4 reabsorption in renal tubules
normal calcium, low PO4, high ALP
XR: cupped metaphyses with widening of epiphyses
dx: increased urinary PO4
mx: high dose vit D, PO PO4

80
Q

vit K function

A

fat soluble
cofactor in carboxylation of clotting factors II, VII, IX, X
reverses warfarinisation (takes 4h)
levels may fall in conditions affecting fat absorption
deficiency may occur after prolonged broad spectrum abx

81
Q

atherosclerosis changes

A

subendothelial space infiltrated by LDL

monocytes migrate from blood and differentiate into macrophages
> phagocytose oxidised LDL
> turn into foam cells

smooth muscle proliferation and migration from tunica media into intima
> fibrous capsule covering fatty plaque

82
Q

ANP actions

A

secreted mostly by right atrium (also right ventricle and left atrium)
secreted in response to increased blood volume
acts via cGMP
degraded by endopeptidases

> natiuresis
lowers BP
antagonises angiotensin II and aldosterone

83
Q

phases of cardiac action potential

A

0- rapid depolarisation, rapid Na influx
1- early repolarisation, K efflux
2- plateau, slow Ca influx
3- final repolarisation, K efflux
4- restoration, Na/KATPase restores resting potential. slow Na entry until threshold potential reached which triggers new action potential

84
Q

cardiac conduction velocity

A

ventricular: 2-4m/sec (fastest)
atrial: 1m/sec
AV node: 0.05m/sec

85
Q

LV ejection fraction equation

A

stroke volume/end diastolic LV volume*100%

86
Q

stroke volume equation

A

end diastolic LV volume - end systolic LV volume

87
Q

what increases pulse pressure?

A

pulse pressure = systolic - diastolic

reduced aortic compliance
increased stroke volume

88
Q

systemic vascular resistance equation

A

mean arterial pressure/ cardiac output

89
Q

actions of endothelin

A

acts via G protein linked to phospholipase C
vasoconstriction
bronchoconstriction

90
Q

what affects release of endothelin?

A

promotes:
angiotensin II
ADH
hypoxia
mechanical shearing forces

inhibits:
nitric oxide
prostacyclin

91
Q

endothelin is raised in what conditions?

A

primary pulmonary HTN
MI
HF
AKI
asthma

92
Q

when is pulmonary surfactant detectable from?

A

28 weeks

92
Q

respiratory chloride shift

A

CO2 diffuses into RBC
CO2+H2O > carbonic anhydrase > HCO3 + H
H + Hb
HCO3 diffuses out of cell and Cl- replaces it

93
Q

haldane effect

A

increased po2 > co2 binds less well to hb

94
Q

Hering Bruer reflex

A

lung distension results in slowing of resp rate

95
Q

what factors affect lung compliance?

A

increase: age, emphysema
reduce: pulmonary oedema, pulmonary fibrosis, pneumonectomy, kyphosis

96
Q

function of leukotrienes

A

mediate inflammation and allergic reactions
bronchoconstriction
mucus production
increase vascular permeability
attract leukocytes
leukotriene D4: slow reacting substance of anaphylaxis

97
Q

leukotriene production

A

secreted by leukocytes
formed from arachidonic acid by lipoxygenase

98
Q

what drugs are safe for breastfeeding?

A

penicillins, cephalosporins, trimethoprim
glucocorticoids, levothyroxine
valproate, carbamazepine
salbutamol, theophyllines
TCAs, antipsychotics (not clozapine)
beta blockers, hydralazine
warfarin, heparin
digoxin

99
Q

what drugs are unsafe when breastfeeding?

A

cipro, tetracyclines, chloramphenicol, sulfonamides
lithium, benzos
aspirin
carbimazole
MTX
sulfonylureas
cytotoxics
amiodarone

100
Q

phases of cell cycle

A

G0- resting
G1- gap1, cells increase in size under p53 influence (cyclinD/CDK4, cyclinD/CDK6, cyclinE/CDK2 regulates transition to M)
S- synthesis of DNA, RNA, histone, centrosome duplication (CyclinA/CKD2)
G2- gap2, cells continue to increase in size (cyclin B/CDK1 regulates transition to M)
M- mitosis, shortest phase

101
Q

phases of mitosis

A

prometaphase: nuclear membrane breaks down, microtubules attach to chromosomes
metaphase: chromosomes align at middle of cell
anaphase: paired chromosomes separate at kinetochores and move to opposite sides of cell
telophase: chromatids arrive at opposite poles of cell
cytokinesis: actin-myosin complex in centre of cell contacts resulting in pinching into two daughter cells

102
Q

rough vs smooth endoplasmic reticulum

A

rough: translation and protein folding, manufacture of lysosomal enzymes, site of N linked glycosylation. e.g pancreatic, goblet, plasma cells
smooth: steroid and lipid synthesis. e.g. hepatocytes, adrenal cortex, testes, ovaries

103
Q

nucleolus function

A

ribosome production

104
Q

ribosome function

A

translation of RNA into proteins

105
Q

peroxisome function

A

catabolises v long chain FAs and AAs
results in hydrogen peroxide formation

106
Q

proteasome function

A

degrades protein molecules tagged with ubiquitin

107
Q

C1 inhibitor deficiency

A

hereditary angioedema
uncontrolled release of bradykinin

108
Q

C1q, C1rs, C2, C4 deficiency (classical pathway components)

A

predisposes to immune complex disease
SLE, HSP

109
Q

C3 deficiency

A

recurrent bacterial infections

110
Q

C5 deficiency

A

Leiner disease
recurrent diarrhoea, wasting, seb dermatitis

111
Q

C5-9 deficiency

A

encodes membrane attack complex
neisseria meningitidis prone

112
Q

how to calculate standard error of the mean

A

SD/ square root of n

113
Q

interleukin source and function

A

IL1- macrophages, acute inflammation and fever
IL2- Th1 cells, growth and differentiation of T response
IL3- activated T helper cells, stimulates myeloid progenitors
IL4- Th2 cells, stimulates B cells
IL5- Th2 cells, stimulates eosinophils
IL6- macrophages and Th2 cells, B cells, fever
IL8- macrophages, neutrophil chemotaxis
IL10- Th2 cells, inhibits Th1 cytokines, anti inflam
IL12- dendritic cells and macrophages and B cells, activates NK and stimulates T cell differentiation into Th1

114
Q

ordinal data

A

set categories which can be ordered

115
Q

nominal data

A

categories have no order or hierarchy

116
Q

dermatome landmarks

A

C2- posterior skull
C3- turtle neck
C4- crew neck
C4- upper limb
C6- thumb and index
C7- middle finger and palm
C8- ring and little finger
T4- nips
T5- inframammary fold
T6- xiphoid
T10- umbilicus
L1- inguinal lig
L4- knees (all 4s)
L5- big toe, dorsal foot
S1- lateral foot, small toe
S2, S3- genitalia

117
Q

DiGeorge syndrome

A

T cell deficiency and dysfunction
microdeletion of chromo22
auto dom

viral and fungal infections
parathyroid hypoplasia, hypocalcaemia
thymus hypoplasia

C- cardiac abnormalities
A- abnormal face
T- thymic aplasia
C- cleft palate
H- hypocalcaemia, hypoparathyroid
22- chromo 22 microdeletion

118
Q

Downs syndrome cardiac complications

A

AV septal canal defects
VSD
ASD secundum
tetralogy
PDA

119
Q

layers of epidermis

A

stratum corneum: flat, dead, scaly keratin filled cells
stratum lucidum: clear layer present only in thick skin
stratum granulosum: cells form links with neighbours
stratum spinosum: squamous cells begin keratin synthesis, thickest layer
stratum germinativum: basement membrane, columnar cells, contains melanocytes and gives rise to keratinocytes

120
Q

fabry disease

A

x recessive
def alpha galactosidase A
burning pain/paraesthesia
angiokeratomas
lens opacities
proteinuria
early CVD

121
Q

HIV immunological changes

A

reduced CD4, IL2, NK, delayed hypersensitivity
increased B2 microglobulin
polyclonal B activation

122
Q

HLA associations

A

encoded on chromo6
HLAA3- haemochromatosis
HLAB51- behcets
HLAB27- ank spond, reactive arthritis, acute anterior uveitis
HLADQ2/DQ8- coeliac
HLADR2- narcolepsy, goodpastures
HLADR3- derm hep, sjogrens, PBC
HLADR4- T1DM, RA

123
Q

homocystinuria treatment

A

b6 pyridoxine supplements

124
Q

types of hypersensitivity reactions

A

1- anaphylactic, atopy. IgE to mast cells
2- cell bound. IgM or IgG. autoimmune haemolytic anaemia, ITP, goodpastures, pernicious anaemia, acute haemolytic transfusion reactions, pemphigus/pemphigoid
3: immune complex. free antigen and ab IgG, IgA. SLE, post strep, extrinsic allergic alveolitis
4: delayed. T cell. TB, graft v host, allergic dermatitis, scabies, extrinsic allergic alveolitis, MS, GBS
5: antibodies recognising and binding surface abs. graves, MG.

125
Q

IL1 inhibitors

A

anakinra- used in RA
canakinumab- used in JIA, stills disease

126
Q

glycogen storage diseases

A

type1/von gierkes- G6P deficiency, hepatic accumualtion
type 2/pompes- lysosomal alpha 1,4 glucosidase deficiency. cardiac, hepatic, muscle accumulation
type 3/cori- alpha glucosidase deficiency. hepatic, cardiac accumulation
type 4/mcardles- glycogen phosphorylase def, skeletal accumulation

127
Q

lysosomal storage diseases

A

gauchers- beta glucocerebrosidase def
tay sachs- hexpsaminidase A def
niemann pick- sphingomyelinase def
fabry- alpha galactosidase def
krabbes- galactocerebrosidase def
metachromatic leukodystrophy- arylsulfatase A def

128
Q

mucopolysaccharidoses

A

hurler syndrome- alpha iduronidase defect
hunter syndrome- iduronate sulfatase def

129
Q

ligand gated ion channel receptors

A

mediate fast responses
nicotinic ACh, GABAA, GABAC, glutamate

130
Q

tyrosine kinase receptors

A

tyrosine kinase: insulin, IGF, EGF
non receptor tyrosine kinase: PIGGlET PRolactin, Immunomodulators, GH, GCSF, EPO, thrombopoietin

131
Q

guanylate cyclase receptors

A

instrinsic enzyme activity
ANP. BNP

132
Q

G protein coupled receptors

A

slow transmission
affect metabolic processes
7 helix membrane spanning domains
alpha, beta, gamma subunits
alpha linked to GDP which is phosphorylated to GTP

133
Q

G proteins

A

Gs stimulates adenylate cyclase, increases cAMP and activates protein kinase A
Gi inhibits adenylate cyclase, decreases cAMP and inhibits protein kinase A
Gq activates phospholipase C and splits PIP2 to IP3 and DAG and activates protein kinase C

134
Q

mechanism of metabolic alkalosis

A

RAAS activation
aldosterone causes Na reabsorption in exchange for H in DCT
ECF depletion causes NaCl loss, activates RAAS
hypokalaemia: K shifts from cells to ECF so H shifts into cells to maintain neutrality

135
Q

microtubules are in all cells except…

A

RBC

136
Q

structure of microtubules

A

cyclindrical
alternating alpha and beta tubulin subunits
positive and negative end

137
Q

microtubules molecular transport

A

dynein and kinesin attatchment proteins move up and down
dynein moves postitive to negative towards centre of cell
kinesin moves negative to positive away from centre
facilitates movement of organelles

138
Q

lebers optic atrophy

A

mitochondrial disease
develops 30y
central scotoma, loss of colour vision
rapid onset visual impairment

139
Q

MELAS syndrome

A

mitochondrial disease
mitochondrial encephalomyopathy lactic acidosis and stroke like syndromes

140
Q

MERRF syndrome

A

mitochondrial disease
myoclonus epilepsy with ragged red fibres

141
Q

kearns sayre syndrome

A

mitochondrial disease
onset < 20y
external ophthalmoplegia, retinitis pigmentosa
ptosis

142
Q

noonan

A

chromo 12
autosomal dom
similar features to turners
also pulm stenosis, ptosis, triangle face, low set ears, factor XI def

143
Q

how to calculate 95% confidence interval?

A

range of mean - (1.96SD) to the mean + (1.96SD)

144
Q

calculating numbers needed to treat

A

1/(absolute risk reduction) and round to nearest whole number

145
Q

experimental event rate

A

(number who had particular outcome with the intervention)/ (total number who had intervention)

146
Q

control event rate

A

(number who had particular outcome with control)/(total number who had control)

147
Q

absolute risk reduction

A

find absolute different between control event rate and experimental event rate
if undesirable outcome: ARR= CER-EER
if desirable outcome: ARR= EER-CER

148
Q

leptin acts on what?

A

stimulates MSH and CRH
low levels release neuropeptide Y

149
Q

ghrelin

A

produced by P/D1 cells in fundus and epsilon cells in pancreas
stimulates hunger

150
Q

odds vs probability

A

odds: ratio of people who incur outcome to the people who do not
e.g. rolling a 6 is 1/5

151
Q

how can proto-oncogenes become oncogenes?

A

point mutation
chromosomal translocation
increased protein expression

152
Q

c-MYC

A

transcription factor
Burkitt’s lymphoma

153
Q

nMYC

A

transcription factor
neuroblastoma

154
Q

BCL-2

A

apoptosis regulator protein
follicular lymphoma

155
Q

RET

A

tyrosine kinase receptor
MEN II, III

156
Q

RAS

A

G protein
many cancers, esp pancreatic

157
Q

erbB2

A

aka HER2/neu
tyrosine kinase receptor
breast and ovarian cancer

158
Q

p53

A

tumour suppressor gene
offers protection by causing apoptosis of damaged cells
loss of function results in increased risk of cancer

159
Q

Li-Fraumeni syndrome

A

rare
autosomal dom
early onset of cancers
p53 mutation

160
Q

type 1 vs type 2 pneumocytes

A

1: thin squamous, 97%
2: cuboidal, secrete surfactant. can differentiate into type 1 during lung damage

161
Q

club cell pneumocytes

A

non ciliated come shaped cells
inside bronchioles
protect against inhaled toxins
secrete glucosaminoglycans and lysozymes

162
Q

what is required for PCR?

A

only 1 strand of sample DNA
2 DNA oligonucleotide primers
thermostable DNA polymerase Taq

163
Q

how does PCR work?

A

boil and denature DNA
cool
complimentary strands pair up
excess primers pair with DNA
repeat the cycle and DNA doubles each time

164
Q

reverse transcriptase PCR

A

amplifies RNA
RNA converted to DNA by reverse transcriptase
mRNA can be analysed

165
Q

prader willi

A

prader willi if gene deleted from father
angelman if gene deleted from mother
chromo 15
infant hypotonia
short stature
hypogonadism
LDs, childhood obesity, behavioural problems

166
Q

post test probability

A

post test odds/ (1+ post test odds)

167
Q

relative risk

A

ratio of risk in experimental group to risk in control group

168
Q

calculating sensitibty, specificity

A

sensitivity: TP/(TP+FN) proportion of patients with condition with positive result
specificity: TN (TN+FP) proportion of patients without condition with negative result

169
Q

positive and negative predictive values

A

postitive predictive: TP/ (TP+FP)
negative predictive: TN/ (TN+FN)

170
Q

likelihood ratio for a positive/negative result

A

positive: sensitivity (1-specificity) how much the odds increase when test is positive
negative: (1-sensitivity)/specificity how much odds decrease when test is negative

171
Q

Wilson and Junger criteria for screening

A
  • important public health problem
  • acceptable treatment
  • available facilities for dx and tx
  • recognised latent or early symptomatic stage
  • natural history adequately undertant
  • suitable test/examination
  • test/exam acceptable to population
  • agreed policy on who to treat
  • cost of case finding economically balanced
  • case finding continuous process and not once for all
172
Q

p value

A

probability of obtaining a result by chance at least as extreme as the one actually observed, assuming the null hypothesis is true

173
Q

types of error when testing null hypothesis

A

1: null hypothesis is rejected when it is true. probability is alpha.
2: null hypothesis is accepted when it is false. probability is beta.

174
Q

power of a study

A

probability of correctly rejecting the null hypothesis when it is false
power= 1-probability of type 2 error

175
Q

non parametric tests

A

mann whitney U- compares ordinal, interval or ratio scales of unpaired data
wilcoxon signed rank- compares 2 sets of observations on a single sample. e.g. before and after
chi squared- compare proportions/percentages
spearman, kendall rank- correlation

176
Q

sleep stages and EEG waves

A

N1- theta waves, light sleep
N2- sleep spindles adn K complexes, 50% of total sleep
N3- delta waves, deep sleep, night terrors, nocturnal enuresis, sleep walking
REM- beta waves, dreaming, loss of muscle tone

177
Q

levels of evidence

A

1a- meta analysis of RCTs
1b- 1 or more RCTs
2a- 1 or more well designed but not randomised, controlled trial
2b- 1 or more well designed experimental trial
3- case, correlation and comparative
4- panel of experts

178
Q

grading of recommendation

A

A- based on evidence from at least one RCT
B- based on evidence from non randomised controlled trials
C- based on evidence from a panel of experts

179
Q

examples of trinucleotide repeat disorders

A

fragile x
huntingtons
myotonic dystrophy
friedreichs ataxia
spinocerebellar ataxia
spinobulbar muscular atrophy
dentatorubral pallidoluysian atrophy

180
Q

turners

A

45X0
bicuspid aortic valve, coarctation of aorta
cystic hygroma
high arched palate
short 4th metacarpal
pigmented naevi
elevated gonadotrophins
hypothyroid
horseshoe kidney

181
Q

variance

A

spread of scores away from mean
variance= square of standard deviation

182
Q

how do diagnose williams syndrome?

A

FISH studies
chromo 7 microdeletion

183
Q

x linked dominant conditions

A

alports
rett syndrome
vit D resistant rickets

184
Q

x linked recessive conditions

A

only males are affected, except in cases of Turner syndrome because they only have one X
androgen insensitivity
becker muscular dystrophy
colour blindness
duchenne MD
fabry
G6PD
haemophilia a, b
huntes
lesch nyhan
nephrogenic DI
oscular albinism
retinitis pigmentosa
wiskott aldrich

185
Q
A

clinical sciences (1 decks)

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