Clinical Sciences Flashcards

1
Q

Rough ER Functions

A
  • translation and folding of new proteins
  • manufacture of lysosomal enzymes
  • n-likned glcyosylation
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2
Q

Smooth ER functions

A

-Steroid and lipid synthesis

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3
Q

Golgi apparatus functions

A
  • Modifies and packages molecules for secretions
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4
Q

Mitochrondria functions

A

Aerobic respiration

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5
Q

Mitochrondria DNA

A

Circular DNA

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6
Q

Nucleus functions

A
  • DNA maintenance
  • RNA transcription
  • RNA splicing
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7
Q

Lysosome function

A

Breakdown of latge molecules

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8
Q

Nucleolus function

A

Ribosome production

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9
Q

Ribosome function

A

Translation of RNA into proteins

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10
Q

Peroxisome function

A

Catabolism of long fatty acids and amino acids

Formation of hydrogen peroxide

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11
Q

Proteasome function

A

Degradation of protein molecules

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12
Q

Southern Blotting

A

Detects DNA

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13
Q

Northern Blotting

A

Detects RNA

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14
Q

Western Blotting

A

Detects proteins

e.g. HIV test

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15
Q

ELISA

A

Detects antigens and antibodies

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16
Q

Reverse Transcriptase PCR

A

Amplify RNA

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17
Q

Study designs: Ia

A

Evidence from meta-analysis of RCTs

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18
Q

Study designs: Ib

A

Evidence from at least x1 RCT

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19
Q

Study designs: IIa

A

Evidence from at least x1 well designed controlled trial not randomised

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20
Q

Study designs: IIb

A

Evidence from at least x1 well designed experimental trial

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21
Q

Study designs: III

A

Evidence from case, correlation and comparative studies

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22
Q

Study designs: IV

A

Evidence from panel of experts

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23
Q

Left ventricular ejection fraction: formula

A

(stroke volume / end diastolic LV volume) * 100

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24
Q

Stoke volume: formula

A

end diastolic LV volume - end diastolic LV volume

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25
Q

Cardiac output: formula

A

stroke volume x HR

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26
Q

Alkaptonuria: deficiency

A
  • Homogentisic dioxygenase
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27
Q

Alkaptonuria: features

A

Pigmented sclera
Black urine in air
Disc calcification
Renal stones

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28
Q

Alkaptonuria: Rx

A

High dose vitamin C

Dietary restriction

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29
Q

Cell surface proteins: CD4, TCR, CD3, CD28

A

helper T cell

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30
Q

Cell surface proteins: CD8, TCR, CD3, CD28

A

Cytotoxic T cells

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31
Q

Cell surface proteins: CD4, CD25, TCR, CD3, CD28

A

Regulatory T cell

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32
Q

Cell surface proteins: CD19, CD20, CD40, MHC II, B7

A

B cell

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33
Q

Cell surface proteins: CD14, CD40, MHC II, B7

A

Macrophage

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34
Q

MHC molecule that presents lipid molecules

A

CD 1: function

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35
Q

Thymocytes, T cells and NK cells

Act as ligand for CD58 and. CD59

A

CD 2: function

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36
Q

Signalling component of TCR

A

CD 3: function

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37
Q

Th cells
Co-receptor for MHC II
Used by HIV to enter cells

A

CD 4: function

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38
Q

Found in mantle cell lymphoma

A

CD 5: function

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39
Q

Tc cells

Co-receptor for MHC I

A

CD 8: function

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40
Q

Found on Reed-Sternberg cells

A

CD 15: function

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41
Q

Bind to IgG

A

CD 16: function

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42
Q

Oncogenes: ABL

A

CML

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43
Q

Oncogenes: c-MYC

A

Burkitt’s lymphoma

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44
Q

Oncogenes: n-MYC

A

Neuroblastoma

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45
Q

Oncogenes: BCL-2

A

Follicular lymphoma

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46
Q

Oncogenes: RET

A

MEN II and MEN III

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47
Q

Oncogenes: RAS

A

Pancreatic cancer

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48
Q

Oncogenes: erb-B2 (HER2)

A

Breast and ovarian cancer

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49
Q

Nitric oxide: effects

A

Vasodilation

Inhibits platelet aggregation

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50
Q

Nitric oxide: receptor

A

acts on guanylate cyclase raising intracellular cGMP and decreasing Ca

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51
Q

Tumour suppressor: p53

A

Li-Fraumeni syndrome

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52
Q

Tumour suppressor: APC

A

CRC

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53
Q

Tumour suppressor: BRCA1/2

A

Breast and ovarian cancer

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54
Q

Tumour suppressor: NF1

A

Neurofibromatosis

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55
Q

Tumour suppressor: Rb

A

Retinoblastoma

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56
Q

Tumour suppressor: WT1

A

Wilm’s tumour

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57
Q

Tumour suppressor: MTS-1

A

Melanoma

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58
Q

Vitamin B1: Name

A

Thiamine

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59
Q

Vitamin B1: deficiency

A

Alcohol XS and malnutrition

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60
Q

Vitamin B1: Wernicke’s

A

Nystagmus, ophthalmoplegia and ataxia

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61
Q

Vitamin B1: Korsakoff’s

A

Amnesia, confabulation

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62
Q

Vitamin B1: dry berbiberi

A

Peripheral neuropathy

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63
Q

Vitamin B1: wet berbiberi

A

Dilated cardiomyopathy

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64
Q

Standard error: formula

A

standard deviation / (root of samples)

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65
Q

Bohr effect

A

Increased acidity (or CO2) means O2 binds less well to Hb

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66
Q

Haldane effect

A

Increase in O2 means CO2 binds less well to Hb

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67
Q

Prader-Willi syndrome: cause

A

15q11-13 paternal deletion

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68
Q

Prader-Willi sydrome: features (8)

A
Hypotonia
Dysmorphic features 
Short
Hypogonadism 
Infertility
LD 
Obesity
Behavioural problems
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69
Q

MELAS syndrome

A

Mitochondrial encephalomyopathy lactic acidosis and stroke like episodes

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70
Q

MERRF syndrome

A

Myoclonus epilepsy with ragged-red fibres

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71
Q

Kearns-Sayre syndrome

A

External ophthalmoplegia, retinitis pigmentosa

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72
Q

PKU: Defect

A

Phenylalanine hydroxylase

Chromosome 12

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73
Q

PKU: Features (6)

A
Developmental delay 
Fair hair and blue eyes
LD
Seizures
Eczema 
Musty urine and sweat
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74
Q

PKU: Diagnosis

A

Guthrie test
Hyperphenylalaninaemia
Phenylpyruvic acid in urine

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75
Q

Respiratory physiology: hypoxia

A
  • Vasoconstriction of pulmonary arteries
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76
Q

Leukotrienes: Function

A
  • Mediators of inflammation and allergic reaction
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77
Q

Leukotrienes: Effect

A

Bronchoconstriction
Mucus production
Increased vascular permeability

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78
Q

Leukotrienes: Production

A

Secreted by leukocytes

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79
Q

Hypersensitivity reactions: 1

A

anaphylaxis

IgE mediated

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80
Q

Hypersensitivity reactions: 1 examples

A

Anaphlyaxis

Atopy

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81
Q

Hypersensitivity reactions: 2

A

Cell mediated

IgG and IgM bind to cell membrane

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82
Q

Hypersensitivity reactions: 2 examples (5)

A

Goodpastures, ITP, rheumatoid fever, autoimmune haemolytic anaemia, pernicious anaemia

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83
Q

Hypersensitivity reactions: 3

A

Immune complex

Free antigen and antibody combine

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84
Q

Hypersensitivity reactions: 3 examples

A

SLE, post strep GN, acute extrinsic alveolitis

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85
Q

Hypersensitivity reactions: 4

A

Delayed hypersensitivity

T cell mediated

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86
Q

Hypersensitivity reactions: 4 examples (6)

A

TB skin reaction, contact dermatitis, graft vs host, scabies, MS, GBS

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87
Q

Hypersensitivity reactions: 5

A

Antibodies bind and stick to cell surface

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88
Q

Hypersensitivity reactions: 5 examples

A

Myasthenia gravis, Graves

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89
Q

Acute inflammation and fevers

Source; macrophages

A

IL 1

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90
Q

Stimulates growth and proliferation of T cells

Source; Th1

A

IL 2

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91
Q

Stimulates differentiation and proliferation of myeloid lineage cells
Source; activated Th cells

A

IL 3

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92
Q

Differentiation of T cells

Source; Th cells

A

IL 4

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93
Q

Eosinophil production

Source; Th cells

A

IL 5

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94
Q

Differentiation of B cells and fevers

Source; Th cells

A

IL 6

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95
Q

Neutrophil chemotaxis

Source; macrophages

A

IL 8

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96
Q

Anti-inflammatory. Inhibits Th synthesis

Source; Th2 cells

A

IL 10

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97
Q

Stimulates maturation of immature T cells

Source; dendritic cells, B cells, macrophages

A

IL 12

98
Q

Increased renin secretion

A

Hypotension, hyponatraemia, sympathetic nerve stimulation, catecholamines, erect position

99
Q

Decreased renin secretion

A

Beta blockers, NSAIDs

100
Q

TNF-a

A

induces fever and neutrophil chemotaxis

Source; macrophage

101
Q

HLA A3

A

Haematochromatosis

102
Q

HLA B51

A

Bechets

103
Q

HLA B27

A

Ankylosing spondylitis, anterior uveitis, reactive arthritis

104
Q

HLA DQ2/8

A

Coeliac

105
Q

HLA DR2

A

Narcolepsy, Goodpasture’s

106
Q

HLA DR3

A

Dermatitis herpetiformis, PSC, Sjogrens

107
Q

HLA DR4

A

RA, T1DM

108
Q

Cell cycle: G0

A

Resting phase

109
Q

Cell cycle: G1

A

Cells increase in size
Under influence of p53
Determines length of cycle

110
Q

Cell cycle: S

A

Synthesis of DNA, RNA and histones

111
Q

Cell cycle: G2

A

Cells increase in size

112
Q

Homocystinuria: deficiency

A

Cystathionine beta synthase

113
Q

Homocystinuria: features

A

tall, long fingered, Marfanoid, downward lens dislocation, DVT, learning difficulties

114
Q

Homocystinuria: management

A

Vitamin B6

115
Q

Complement deficiencies: C1

A

Hereditary angioedema

116
Q

Complement deficiencies: C1q, C1s, C2, C4

A

Immune complex disease

117
Q

Complement deficiencies: C3

A

Recurrent bacterial infections

118
Q

Complement deficiencies: C5

A

Lenier disease (recurrent diarrhoea, wasting and seborrhoeic dermatitis)

119
Q

Complement deficiencies: C5-9

A

Prone to N. meniginitdes infections

120
Q

Non REM 1 sleep

A

Light sleep. Associated with hypnic jerks

121
Q

Non REM 2 sleep

A

Deeper sleep

122
Q

Non REM 3 sleep

A

Deep sleep

Parasomnias

123
Q

REM sleep

A

Dreaming. Loss of muscle tone and erections

124
Q

Congenital Rubella

A

Sensorineural deafness, cataracts, congenital heart disease, glaucoma

125
Q

Congenital Toxoplasmosis

A

Cerebral calcification, chorioretinitis, hydrocephalus

126
Q

Congenital CMV

A

Growth retardation, purpuric skin lesions

127
Q

Clinical Trial: 1 purpose

A

Determines pharmacokinetics and pharmacodynamics

128
Q

Clinical Trial: 2 purpose

A

Assesses efficacy and dosing

129
Q

Clinical Trial: 3 purpose

A

Assesses effectiveness

130
Q

Clinical Trial: 4 purpose

A

post marketing surveilance

131
Q

Parametric tests

A

T test and Pearson’s

132
Q

Mann Whitney

A

Compares ordinal, interval or ratio scales of unpaired data

133
Q

Wilcox Rank

A

Compares 2 observations on a single sample e.g. before and after

134
Q

Chi Squared

A

Compare proportions or percentages

135
Q

Fabry’s disease: deficiency

A

Alpha-galasosidase A

136
Q

Fabry’s disease: features

A

paraesthesia, angiokeratomas, lens opacities, proteinuria, early CVD

137
Q

Niacin deficiency: features

A

Dementia, dermatitis, diarrhoea

138
Q

Li Fraumeni syndrome

A

Mutation of p53

Early onset of cancers

139
Q

Sensitivity

A

TP / (TP + FN)

Proportion of those with condition who test positive

140
Q

Specificity

A

TN / (TN + FP)

Proportion of those without condition who test positive

141
Q

PPV

A

TP / (TP + FP)

Chance of having condition if tests positive

142
Q

NPV

A

TN / (TN + FN)

Chance of not having the condition if tests negative

143
Q

Likelihood ratio for positive

A

sensitivity / (1 - specificifty)

144
Q

Likelihood ratio for negative

A

(1-sensitivity) / specificity

145
Q

IF - a: production

A

Produced by leukocytes

146
Q

IF - a: viruses

A

HBV, HCV, Kapsosi’s, metastatic RCC, hairy cell leukaemia

147
Q

IF - a: SE

A

Flu like illness

Depression

148
Q

IF - B: production

A

Fibroblasts

149
Q

IF - B: Uses

A

Relpasing-remitting MS

150
Q

IF - gamma: Production

A

NK and Th cells

151
Q

IF - gamma: action

A

Macrophage activation

152
Q

Th1 cells secrete

A

IFN-gamma, IL 2, IL 3

153
Q

Th2 cells secrete

A

IL 4 / 5 /6 / 10 / 13

154
Q

Positive skewed

A

mean > median > mode

155
Q

Negative skewed

A

mean < median < mode

156
Q

Type 1 error

A

Rejection of null hypothesis when it is true

False positive

157
Q

Type 2 error

A

Acceptation of null hypothesis when it is false

False negative

158
Q

Power

A

Probability of correctly rejection null hypothesis when it is false

159
Q

Cardiac conduction: rapid depolarisation

A

rapid Na influx

160
Q

Cardiac conduction: early repolarisation

A

K efflux

161
Q

Cardiac conduction: plateau

A

slow Ca influx

162
Q

Cardiac conduction: final repolarisation

A

K efflux

163
Q

Cardiac conduction: restoration

A

slow Na influx

164
Q

NNT

A

1 / (CER - ER)

165
Q

Epidermal corneum

A

flat, dead, scale like cells with keratin. Continually shed

166
Q

Epidermal lucidum

A

clear layer, thick skin only

167
Q

Epidermal granulosum

A

cells link with neighbours

168
Q

Epidermal spinosum

A

squamous cells begin keratin synthesis

thickest layer

169
Q

Epidermal germinativum

A

basement membrane. Single layer of columnar cells. Gives rise to keratinocytes and melanocytes

170
Q

Di George syndrome: CATCH-22

A
Cardiac abnormalities (ToF and Truncus arteriosus)
Abnormal facies
Thymic aplasia / T cell deficiency
Cleft palate
Hypocalacaemia / PTH 
Chromosome 22 deletion
171
Q

Turner’s Syndrome: features

A

Short stature, wide spaced nipples, webbed neck, coarctation of aorta, bicuspid aortic valve, amenorrhoea, cystic hygroma, hypothyroid, horse shoe kidney

172
Q

Vitamin K dependent clotting factors

A

2
7
9
10

173
Q

Prometaphase

A

Nuclear membrane breaks down allowing microtubules to attach to chromosomes

174
Q

Metaphase

A

Chromosomes aligns at middle

175
Q

Anaphase

A

Chromosomes separate and move to opposite sides

176
Q

Telophase

A

Chromatids arrive at opposite sides

177
Q

Cytokinesis

A

Product of x2 daughter cells

178
Q

Urinary casts: RBC

A

GN, renal ischaemia / infarction

179
Q

Urinary casts: WBC

A

Acute PN, interstitial nephritis

180
Q

Urinary casts: granular

A

ATN

181
Q

Urinary casts: Hyaline

A

common follow exercise or dehydration

182
Q

Urinary casts: epithelial

A

ATN

183
Q

Urinary casts: waxy

A

CKD

184
Q

Urinary casts: fatty

A

nephrotic

185
Q

ANP: secretion

A

secreted by myocytes in left side of heart in response to increase blood volume

186
Q

ANP: action

A

Natriuretic
Lowers BP
Antagonises angiotensin II/aldosterone

187
Q

IgG

A

Enhances phagocytosis, passes placenta

Most abundant

188
Q

IgM

A

First responder

Anti-A b-blood antibodies (haemolytic reaction)

189
Q

IgA

A

Found in breast milk and secretions

Most commonly produced

190
Q

IgD

A

Activation of B cells

191
Q

IgE

A

Type I hypersensitivity reactions

Parasitic immunity

192
Q

Ligand gated ion channel receptors

A

Mediate fast response

193
Q

Ligand gated ion channel receptors: eg

A

ACh, GABA-A, GABA-C glutamate

194
Q

Tyrosine kinase receptors: eg

A

Insulin, PRL, erythropoietin

195
Q

Guanylate cyclase receptors

A

Contain intrinsic enzyme activity

196
Q

Guanylate cyclase receptors: eg

A

ANP, BNP

197
Q

G-protein coupled receptors

A

Slow transmission and metabolic processes

198
Q

G-protein coupled receptors: Gs

A

Stimulates adenylate cyclase

E.g. B-1, B2, H-2, D1

199
Q

G-protein coupled receptors: Gi

A

Inhibits adenylate cyclase

E.g. M2, a-2, D2, GABA-B

200
Q

G-protein coupled receptors: Gq

A

Activates phospholipase C

E.g. a-1, H-1, V1, M1 and M3

201
Q

Endothelin: function

A

Powerful vaso/bronchoconstrictor

202
Q

Endothelin: promotion

A

Angiotensin II, ADH, hypoxia, mechanical shearing forces

203
Q

Endothelin: inhibition

A

NO, prostcyclin

204
Q

Renal stones: calcium oxalate

A

Most common

Hypercalcaemia RF

205
Q

Renal stones: calcium phosphate

A

Associated with RTA

Radio-opaque

206
Q

Renal stones: Uric acid

A

Associated with malignancies

207
Q

Renal stones: Struvate

A

Urease producing bacteria

208
Q

Renal stones: Cystine

A

Multiple stones

209
Q

Oncoviruses: EBV

A

Burkitt’s lymphoma, Hogkin’s lymphoma, post transplant lymphoma, NP cancer

210
Q

Oncoviruses: HPV 16/18

A

Cervical, anal, penile, vulval, OP cancer

211
Q

Oncoviruses: herpes 8

A

Kaposi’s

212
Q

Oncoviruses: HBV, HCV

A

HCC

213
Q

Oncoviruses: t-lymphotropic virus 1

A

tropical spastic paraparesis, adult T cell leukaemia

214
Q

Erythropoiesis: haematocytoblast

A

Multipotent stem cell

215
Q

Erythropoiesis: proerythroblast

A

Committed to developmental pathway

216
Q

Erythropoiesis: basophilic erythroblast

A

Ribosomes start to accumulate and nucleus shrinks

217
Q

Erythropoiesis: polychromatophillic erythroblast

A

Nucleus and total cell volume shrink

218
Q

Erythropoiesis: normoblast

A

cell nucleus is ejected

219
Q

Erythropoiesis: reticulocyte

A

enters circulation

220
Q

Collagen I

A

Bone, skin and tendons

Condition: osteogenesis imperfecta

221
Q

Collagen II

A

Hyaline cartilage, vitreous humour

222
Q

Collagen III

A

Reticular fibre, granulation tissue

Condition; Ehlers-Danlos syndrome

223
Q

Collagen IV

A

Basal lamina, lens, basement membrane

Condition: Alport’s, Goodpasture’s

224
Q

Collagen V

A

Interstitial and placental tissue

Condition: Ehlers-Danlos

225
Q

Increased lung compliance

A

Age, emphysema

226
Q

Decreased lung compliance

A

Pulmonary oedema, pulmonary fibrosis, pneumonectomy, kyphosis

227
Q

Kidney histology: nodular glomerulosclerosis and hyaline arteriosclerosis

A

Diabetic nephropathy

AKA Kimmelstiel-Wilsom

228
Q

Kidney histology: apple green birefringence

A

Amyloidosis

229
Q

Kidney histology: enlarged hypercellular glomeruli

A

Acute post-strep GN

230
Q

Kidney histology: crescent moon shaped glomeruli

A

Rapidly progressive crescentic GN

231
Q

Kidney histology: wirelooping of capillaries

A

Diffuse proliferative GN e.g. SLE

232
Q

Zona glomerulosa

A

Outside
Aldosterone
GFR-ACD

233
Q

Zona fasciculate

A

Middle
Cortisol
GFR-ACD

234
Q

Zona reticularis

A

Inside
Dehydroepiandrosterone
GFR-ACD

235
Q

Study design: Superiority

A

Requires large sample size to show significance

236
Q

Study design: Equivalence

A

If new drug lies within equivalence margin then assumed to have similar effect

237
Q

Study design: Non-inferiority

A

Small sample size

238
Q

Fragile X: inheiritance

A

CGG repeat

239
Q

Huntington’s: inheiritance

A

CAG repeat

240
Q

Myotonic dystrophy: inheiritance

A

CTG repeat

241
Q

Friedreich’s ataxia: inheiritance

A

GAA repeat