Clinical Sciences Flashcards
1
Q
Rough ER Functions
A
- translation and folding of new proteins
- manufacture of lysosomal enzymes
- n-likned glcyosylation
2
Q
Smooth ER functions
A
-Steroid and lipid synthesis
3
Q
Golgi apparatus functions
A
- Modifies and packages molecules for secretions
4
Q
Mitochrondria functions
A
Aerobic respiration
5
Q
Mitochrondria DNA
A
Circular DNA
6
Q
Nucleus functions
A
- DNA maintenance
- RNA transcription
- RNA splicing
7
Q
Lysosome function
A
Breakdown of latge molecules
8
Q
Nucleolus function
A
Ribosome production
9
Q
Ribosome function
A
Translation of RNA into proteins
10
Q
Peroxisome function
A
Catabolism of long fatty acids and amino acids
Formation of hydrogen peroxide
11
Q
Proteasome function
A
Degradation of protein molecules
12
Q
Southern Blotting
A
Detects DNA
13
Q
Northern Blotting
A
Detects RNA
14
Q
Western Blotting
A
Detects proteins
e.g. HIV test
15
Q
ELISA
A
Detects antigens and antibodies
16
Q
Reverse Transcriptase PCR
A
Amplify RNA
17
Q
Study designs: Ia
A
Evidence from meta-analysis of RCTs
18
Q
Study designs: Ib
A
Evidence from at least x1 RCT
19
Q
Study designs: IIa
A
Evidence from at least x1 well designed controlled trial not randomised
20
Q
Study designs: IIb
A
Evidence from at least x1 well designed experimental trial
21
Q
Study designs: III
A
Evidence from case, correlation and comparative studies
22
Q
Study designs: IV
A
Evidence from panel of experts
23
Q
Left ventricular ejection fraction: formula
A
(stroke volume / end diastolic LV volume) * 100
24
Q
Stoke volume: formula
A
end diastolic LV volume - end diastolic LV volume
25
Cardiac output: formula
stroke volume x HR
26
Alkaptonuria: deficiency
- Homogentisic dioxygenase
27
Alkaptonuria: features
Pigmented sclera
Black urine in air
Disc calcification
Renal stones
28
Alkaptonuria: Rx
High dose vitamin C
| Dietary restriction
29
Cell surface proteins: CD4, TCR, CD3, CD28
helper T cell
30
Cell surface proteins: CD8, TCR, CD3, CD28
Cytotoxic T cells
31
Cell surface proteins: CD4, CD25, TCR, CD3, CD28
Regulatory T cell
32
Cell surface proteins: CD19, CD20, CD40, MHC II, B7
B cell
33
Cell surface proteins: CD14, CD40, MHC II, B7
Macrophage
34
MHC molecule that presents lipid molecules
CD 1: function
35
Thymocytes, T cells and NK cells
| Act as ligand for CD58 and. CD59
CD 2: function
36
Signalling component of TCR
CD 3: function
37
Th cells
Co-receptor for MHC II
Used by HIV to enter cells
CD 4: function
38
Found in mantle cell lymphoma
CD 5: function
39
Tc cells
| Co-receptor for MHC I
CD 8: function
40
Found on Reed-Sternberg cells
CD 15: function
41
Bind to IgG
CD 16: function
42
Oncogenes: ABL
CML
43
Oncogenes: c-MYC
Burkitt's lymphoma
44
Oncogenes: n-MYC
Neuroblastoma
45
Oncogenes: BCL-2
Follicular lymphoma
46
Oncogenes: RET
MEN II and MEN III
47
Oncogenes: RAS
Pancreatic cancer
48
Oncogenes: erb-B2 (HER2)
Breast and ovarian cancer
49
Nitric oxide: effects
Vasodilation
| Inhibits platelet aggregation
50
Nitric oxide: receptor
acts on guanylate cyclase raising intracellular cGMP and decreasing Ca
51
Tumour suppressor: p53
Li-Fraumeni syndrome
52
Tumour suppressor: APC
CRC
53
Tumour suppressor: BRCA1/2
Breast and ovarian cancer
54
Tumour suppressor: NF1
Neurofibromatosis
55
Tumour suppressor: Rb
Retinoblastoma
56
Tumour suppressor: WT1
Wilm's tumour
57
Tumour suppressor: MTS-1
Melanoma
58
Vitamin B1: Name
Thiamine
59
Vitamin B1: deficiency
Alcohol XS and malnutrition
60
Vitamin B1: Wernicke's
Nystagmus, ophthalmoplegia and ataxia
61
Vitamin B1: Korsakoff's
Amnesia, confabulation
62
Vitamin B1: dry berbiberi
Peripheral neuropathy
63
Vitamin B1: wet berbiberi
Dilated cardiomyopathy
64
Standard error: formula
standard deviation / (root of samples)
65
Bohr effect
Increased acidity (or CO2) means O2 binds less well to Hb
66
Haldane effect
Increase in O2 means CO2 binds less well to Hb
67
Prader-Willi syndrome: cause
15q11-13 paternal deletion
68
Prader-Willi sydrome: features (8)
```
Hypotonia
Dysmorphic features
Short
Hypogonadism
Infertility
LD
Obesity
Behavioural problems
```
69
MELAS syndrome
Mitochondrial encephalomyopathy lactic acidosis and stroke like episodes
70
MERRF syndrome
Myoclonus epilepsy with ragged-red fibres
71
Kearns-Sayre syndrome
External ophthalmoplegia, retinitis pigmentosa
72
PKU: Defect
Phenylalanine hydroxylase
| Chromosome 12
73
PKU: Features (6)
```
Developmental delay
Fair hair and blue eyes
LD
Seizures
Eczema
Musty urine and sweat
```
74
PKU: Diagnosis
Guthrie test
Hyperphenylalaninaemia
Phenylpyruvic acid in urine
75
Respiratory physiology: hypoxia
- Vasoconstriction of pulmonary arteries
76
Leukotrienes: Function
- Mediators of inflammation and allergic reaction
77
Leukotrienes: Effect
Bronchoconstriction
Mucus production
Increased vascular permeability
78
Leukotrienes: Production
Secreted by leukocytes
79
Hypersensitivity reactions: 1
anaphylaxis
| IgE mediated
80
Hypersensitivity reactions: 1 examples
Anaphlyaxis
| Atopy
81
Hypersensitivity reactions: 2
Cell mediated
| IgG and IgM bind to cell membrane
82
Hypersensitivity reactions: 2 examples (5)
Goodpastures, ITP, rheumatoid fever, autoimmune haemolytic anaemia, pernicious anaemia
83
Hypersensitivity reactions: 3
Immune complex
| Free antigen and antibody combine
84
Hypersensitivity reactions: 3 examples
SLE, post strep GN, acute extrinsic alveolitis
85
Hypersensitivity reactions: 4
Delayed hypersensitivity
| T cell mediated
86
Hypersensitivity reactions: 4 examples (6)
TB skin reaction, contact dermatitis, graft vs host, scabies, MS, GBS
87
Hypersensitivity reactions: 5
Antibodies bind and stick to cell surface
88
Hypersensitivity reactions: 5 examples
Myasthenia gravis, Graves
89
Acute inflammation and fevers
| Source; macrophages
IL 1
90
Stimulates growth and proliferation of T cells
| Source; Th1
IL 2
91
Stimulates differentiation and proliferation of myeloid lineage cells
Source; activated Th cells
IL 3
92
Differentiation of T cells
| Source; Th cells
IL 4
93
Eosinophil production
| Source; Th cells
IL 5
94
Differentiation of B cells and fevers
| Source; Th cells
IL 6
95
Neutrophil chemotaxis
| Source; macrophages
IL 8
96
Anti-inflammatory. Inhibits Th synthesis
| Source; Th2 cells
IL 10
97
Stimulates maturation of immature T cells
| Source; dendritic cells, B cells, macrophages
IL 12
98
Increased renin secretion
Hypotension, hyponatraemia, sympathetic nerve stimulation, catecholamines, erect position
99
Decreased renin secretion
Beta blockers, NSAIDs
100
TNF-a
induces fever and neutrophil chemotaxis
| Source; macrophage
101
HLA A3
Haematochromatosis
102
HLA B51
Bechets
103
HLA B27
Ankylosing spondylitis, anterior uveitis, reactive arthritis
104
HLA DQ2/8
Coeliac
105
HLA DR2
Narcolepsy, Goodpasture's
106
HLA DR3
Dermatitis herpetiformis, PSC, Sjogrens
107
HLA DR4
RA, T1DM
108
Cell cycle: G0
Resting phase
109
Cell cycle: G1
Cells increase in size
Under influence of p53
Determines length of cycle
110
Cell cycle: S
Synthesis of DNA, RNA and histones
111
Cell cycle: G2
Cells increase in size
112
Homocystinuria: deficiency
Cystathionine beta synthase
113
Homocystinuria: features
tall, long fingered, Marfanoid, downward lens dislocation, DVT, learning difficulties
114
Homocystinuria: management
Vitamin B6
115
Complement deficiencies: C1
Hereditary angioedema
116
Complement deficiencies: C1q, C1s, C2, C4
Immune complex disease
117
Complement deficiencies: C3
Recurrent bacterial infections
118
Complement deficiencies: C5
Lenier disease (recurrent diarrhoea, wasting and seborrhoeic dermatitis)
119
Complement deficiencies: C5-9
Prone to N. meniginitdes infections
120
Non REM 1 sleep
Light sleep. Associated with hypnic jerks
121
Non REM 2 sleep
Deeper sleep
122
Non REM 3 sleep
Deep sleep
| Parasomnias
123
REM sleep
Dreaming. Loss of muscle tone and erections
124
Congenital Rubella
Sensorineural deafness, cataracts, congenital heart disease, glaucoma
125
Congenital Toxoplasmosis
Cerebral calcification, chorioretinitis, hydrocephalus
126
Congenital CMV
Growth retardation, purpuric skin lesions
127
Clinical Trial: 1 purpose
Determines pharmacokinetics and pharmacodynamics
128
Clinical Trial: 2 purpose
Assesses efficacy and dosing
129
Clinical Trial: 3 purpose
Assesses effectiveness
130
Clinical Trial: 4 purpose
post marketing surveilance
131
Parametric tests
T test and Pearson's
132
Mann Whitney
Compares ordinal, interval or ratio scales of unpaired data
133
Wilcox Rank
Compares 2 observations on a single sample e.g. before and after
134
Chi Squared
Compare proportions or percentages
135
Fabry's disease: deficiency
Alpha-galasosidase A
136
Fabry's disease: features
paraesthesia, angiokeratomas, lens opacities, proteinuria, early CVD
137
Niacin deficiency: features
Dementia, dermatitis, diarrhoea
138
Li Fraumeni syndrome
Mutation of p53
| Early onset of cancers
139
Sensitivity
TP / (TP + FN)
| Proportion of those with condition who test positive
140
Specificity
TN / (TN + FP)
| Proportion of those without condition who test positive
141
PPV
TP / (TP + FP)
| Chance of having condition if tests positive
142
NPV
TN / (TN + FN)
| Chance of not having the condition if tests negative
143
Likelihood ratio for positive
sensitivity / (1 - specificifty)
144
Likelihood ratio for negative
(1-sensitivity) / specificity
145
IF - a: production
Produced by leukocytes
146
IF - a: viruses
HBV, HCV, Kapsosi's, metastatic RCC, hairy cell leukaemia
147
IF - a: SE
Flu like illness
| Depression
148
IF - B: production
Fibroblasts
149
IF - B: Uses
Relpasing-remitting MS
150
IF - gamma: Production
NK and Th cells
151
IF - gamma: action
Macrophage activation
152
Th1 cells secrete
IFN-gamma, IL 2, IL 3
153
Th2 cells secrete
IL 4 / 5 /6 / 10 / 13
154
Positive skewed
mean > median > mode
155
Negative skewed
mean < median < mode
156
Type 1 error
Rejection of null hypothesis when it is true
| False positive
157
Type 2 error
Acceptation of null hypothesis when it is false
| False negative
158
Power
Probability of correctly rejection null hypothesis when it is false
159
Cardiac conduction: rapid depolarisation
rapid Na influx
160
Cardiac conduction: early repolarisation
K efflux
161
Cardiac conduction: plateau
slow Ca influx
162
Cardiac conduction: final repolarisation
K efflux
163
Cardiac conduction: restoration
slow Na influx
164
NNT
1 / (CER - ER)
165
Epidermal corneum
flat, dead, scale like cells with keratin. Continually shed
166
Epidermal lucidum
clear layer, thick skin only
167
Epidermal granulosum
cells link with neighbours
168
Epidermal spinosum
squamous cells begin keratin synthesis
| thickest layer
169
Epidermal germinativum
basement membrane. Single layer of columnar cells. Gives rise to keratinocytes and melanocytes
170
Di George syndrome: CATCH-22
```
Cardiac abnormalities (ToF and Truncus arteriosus)
Abnormal facies
Thymic aplasia / T cell deficiency
Cleft palate
Hypocalacaemia / PTH
Chromosome 22 deletion
```
171
Turner's Syndrome: features
Short stature, wide spaced nipples, webbed neck, coarctation of aorta, bicuspid aortic valve, amenorrhoea, cystic hygroma, hypothyroid, horse shoe kidney
172
Vitamin K dependent clotting factors
2
7
9
10
173
Prometaphase
Nuclear membrane breaks down allowing microtubules to attach to chromosomes
174
Metaphase
Chromosomes aligns at middle
175
Anaphase
Chromosomes separate and move to opposite sides
176
Telophase
Chromatids arrive at opposite sides
177
Cytokinesis
Product of x2 daughter cells
178
Urinary casts: RBC
GN, renal ischaemia / infarction
179
Urinary casts: WBC
Acute PN, interstitial nephritis
180
Urinary casts: granular
ATN
181
Urinary casts: Hyaline
common follow exercise or dehydration
182
Urinary casts: epithelial
ATN
183
Urinary casts: waxy
CKD
184
Urinary casts: fatty
nephrotic
185
ANP: secretion
secreted by myocytes in left side of heart in response to increase blood volume
186
ANP: action
Natriuretic
Lowers BP
Antagonises angiotensin II/aldosterone
187
IgG
Enhances phagocytosis, passes placenta
| Most abundant
188
IgM
First responder
| Anti-A b-blood antibodies (haemolytic reaction)
189
IgA
Found in breast milk and secretions
| Most commonly produced
190
IgD
Activation of B cells
191
IgE
Type I hypersensitivity reactions
| Parasitic immunity
192
Ligand gated ion channel receptors
Mediate fast response
193
Ligand gated ion channel receptors: eg
ACh, GABA-A, GABA-C glutamate
194
Tyrosine kinase receptors: eg
Insulin, PRL, erythropoietin
195
Guanylate cyclase receptors
Contain intrinsic enzyme activity
196
Guanylate cyclase receptors: eg
ANP, BNP
197
G-protein coupled receptors
Slow transmission and metabolic processes
198
G-protein coupled receptors: Gs
Stimulates adenylate cyclase
| E.g. B-1, B2, H-2, D1
199
G-protein coupled receptors: Gi
Inhibits adenylate cyclase
| E.g. M2, a-2, D2, GABA-B
200
G-protein coupled receptors: Gq
Activates phospholipase C
| E.g. a-1, H-1, V1, M1 and M3
201
Endothelin: function
Powerful vaso/bronchoconstrictor
202
Endothelin: promotion
Angiotensin II, ADH, hypoxia, mechanical shearing forces
203
Endothelin: inhibition
NO, prostcyclin
204
Renal stones: calcium oxalate
Most common
| Hypercalcaemia RF
205
Renal stones: calcium phosphate
Associated with RTA
| Radio-opaque
206
Renal stones: Uric acid
Associated with malignancies
207
Renal stones: Struvate
Urease producing bacteria
208
Renal stones: Cystine
Multiple stones
209
Oncoviruses: EBV
Burkitt's lymphoma, Hogkin's lymphoma, post transplant lymphoma, NP cancer
210
Oncoviruses: HPV 16/18
Cervical, anal, penile, vulval, OP cancer
211
Oncoviruses: herpes 8
Kaposi's
212
Oncoviruses: HBV, HCV
HCC
213
Oncoviruses: t-lymphotropic virus 1
tropical spastic paraparesis, adult T cell leukaemia
214
Erythropoiesis: haematocytoblast
Multipotent stem cell
215
Erythropoiesis: proerythroblast
Committed to developmental pathway
216
Erythropoiesis: basophilic erythroblast
Ribosomes start to accumulate and nucleus shrinks
217
Erythropoiesis: polychromatophillic erythroblast
Nucleus and total cell volume shrink
218
Erythropoiesis: normoblast
cell nucleus is ejected
219
Erythropoiesis: reticulocyte
enters circulation
220
Collagen I
Bone, skin and tendons
| Condition: osteogenesis imperfecta
221
Collagen II
Hyaline cartilage, vitreous humour
222
Collagen III
Reticular fibre, granulation tissue
| Condition; Ehlers-Danlos syndrome
223
Collagen IV
Basal lamina, lens, basement membrane
| Condition: Alport's, Goodpasture's
224
Collagen V
Interstitial and placental tissue
| Condition: Ehlers-Danlos
225
Increased lung compliance
Age, emphysema
226
Decreased lung compliance
Pulmonary oedema, pulmonary fibrosis, pneumonectomy, kyphosis
227
Kidney histology: nodular glomerulosclerosis and hyaline arteriosclerosis
Diabetic nephropathy
| AKA Kimmelstiel-Wilsom
228
Kidney histology: apple green birefringence
Amyloidosis
229
Kidney histology: enlarged hypercellular glomeruli
Acute post-strep GN
230
Kidney histology: crescent moon shaped glomeruli
Rapidly progressive crescentic GN
231
Kidney histology: wirelooping of capillaries
Diffuse proliferative GN e.g. SLE
232
Zona glomerulosa
Outside
Aldosterone
GFR-ACD
233
Zona fasciculate
Middle
Cortisol
GFR-ACD
234
Zona reticularis
Inside
Dehydroepiandrosterone
GFR-ACD
235
Study design: Superiority
Requires large sample size to show significance
236
Study design: Equivalence
If new drug lies within equivalence margin then assumed to have similar effect
237
Study design: Non-inferiority
Small sample size
238
Fragile X: inheiritance
CGG repeat
239
Huntington's: inheiritance
CAG repeat
240
Myotonic dystrophy: inheiritance
CTG repeat
241
Friedreich's ataxia: inheiritance
GAA repeat
