1
Q
What are secreted from T-helper subset 1 cells (Th1 cells)
A
FN-gamma, IL-2, IL-3
2
Q
What are secreted from T-helper subset 2 cells (Th2 cells)
A
IL-4, IL-5, IL-6, IL-10, IL-13
3
Q
MOA of GTN (nitric oxide)
A
Relaxes vascular smooth muscle and inhibits platelet aggregation via increased cyclic GMP
4
Q
Which oncogene is most commonly implicated in Burkitt’s lymphoma?
A
c-MYC
5
Q
Which oncogene is associated with neuroblastoma?
A
n-MYC
6
Q
What is Li-Fraumeni syndrome?
A
Autosomal dominant condition associated with development of many cancers - breast, sarcoma, glioblastoma, lymohoma
p53 gene mutation
7
Q
How is an action potential triggered in skeletal muscle contraction
A
1) calcium influx causes the release of acetylcholine into the extracellular space
2) the acetylcholine activates nicotinic acetylcholine receptors causing an influx of sodium, triggering an action potential
8
Q
Diabetic nephropathy histological findings
A
Kimmelstiel-Wilson lesions, nodular glomerulosclerosis
9
Q
Where in the renal tubule is phosphate reabsorbed
A
Proximal convoluted tubule
10
Q
Which cells primarily produce interferon gamma
A
Natural killer cells and T helper cells
11
Q
Which organs are in direct anatomical contact with the right kidney
A
Right suprarenal gland
Duodenum
Colon
12
Q
Which organs are in direct anatomical contact with the left kidney
A
Left suprarenal gland
Pancreas
Colon
13
Q
What is alkaptonuria
A
Rare autosomal dominant disorder of phenylalanine and tyrosine metabolism caused by a lack of homogentisic dioxygenase enxyme (HGD) - build up of toxic homogentisic acid.
Accumulates in cartilage and tissues.
14
Q
Conditions causing decreased lung compliance
A
pulmonary oedema
pulmonary fibrosis
pneumonectomy
kyphosis
15
Q
Conditions causing increased lung compliance
A
Age
Emphysema
16
Q
What type of bias typically effects case-control studies
A
Recall bias - patients may change their story once they have the condition e.g patients with lung cancer searching their memories more thoroughly for asbestos exposure
17
Q
Sepsis triggers the release of what interleukin causing vasodilation -> hypotension
A
IL-1
18
Q
Which phase of cell cycle determines length of cell cycle
A
G1 phase
19
Q
What process is used to investigate for mutated oncogenes
A
Polymerase chain reaction (PCR)
20
Q
What membrane receptor does insulin, growth factor, prolactin and EPO bind to?
A
Receptor tyrosine kinase
21
Q
What type of membrane receptor does adrenaline act on?
A
G protein coupled receptor
Adrenaline = G force!
22
Q
Where does the spinothalamic tract decussate? What is it responsible for?
A
At the level that the nerve root enters the spinal cord
Anterior spinothalamic - crude touch and pressure
Lateral spinothalamic - pain and temp
23
Q
Where do the the corticospinal tract, dorsal column medial lemniscus, and spinocerebellar tracts decussate?
A
Medulla
24
Q
What do leptin and ghrelin do in obesity
A
Leptic Lowers appetitie
Ghrelin Gains appetite
25
Features of congenital rubella
Sensorineural deafness
Congenital cataracts
Congenital heart disease (e.g. patent ductus arteriosus)
Glaucoma
26
Nicotine acetylcholine, GABA and glutamate are examples of which type of receptor?
Ligand-gates ion channel receptor
27
What type of hypersensitivity reaction is ITP? Why?
Type II - cell mediated -> immune system produces IgG antibodies that bind to self-antigens on cell surfaces
28
What is a nonsense DNA mutation
A mutation that results in a stop codon
29
Renal stones are most commonly constructed of
Calcium oxalate
30
Which stage of the sleep cycle is associated with hypnagogic jerks
Non-REM stage 1 - lightest sleep
31
Where on the antibody do antigens and immune cells bind?
F(A)B region….Antigen
F(C) region……Cell (immune cell)
32
Effect on Na and K+ of ADH
Hyponatraemia - retains water by increasing aquaporins, no Na retained
Hypokalaemia
33
Features of median nerve lesion
loss of thumb opposition, weakness of index and middle finger flexion
sensory loss affects the palmar surface of the lateral 3½ fingers
33
How does C3 deficiency present?
presents in early in life with severe, recurrent bacterial infections, particularly encapsulated organisms
34
Effect of vitamin D on serum calcium and phosphate
Serum calcium increases
serum phosphate increases
35
What level of evidence comes from meta-analysis / systematic review of randomised controlled trials
Ia
36
What is vitamin-D resistant rickets
X linked dominant condition caused by impaired phosphate reabsorption in renal tubules
37
Where is adrenaline secreted
Adrenal medulla
38
What nerve passes through the foramen rotundum
Maxillary nerve (V2)
39
What is the Bohr effect?
Increasing acidity (or pCO2) means O2 binds less well to Hb
40
What is the Haldane effect?
Increase in pO2 means CO2 binds less well to Hb
41
Which complement deficiency leads to Leiner disease? features of the disease
C5 deficiency
Recurrent diarrhoea, wasting and seborrhoeic dermatitis
42
Vitamin D increases calcium levels primarily through what mechanism
Ca absorption via the small intestine
43
Equation to work out ejection fraction
Left ventricular ejection fraction = (stroke volume / end diastolic LV volume ) * 100%
44
Which surface markers are found on Reed-Sternberg cells
CD15 and CD30
45
What is Tay-Sachs disease, how does it present?
Lysosomal storage disease
Developmental delay, cherry red spot on macula, normal spleen and liver size
46
Which cells in the lung secrete surfactant
Type 2 pneumocytes
47
What do microtubules do in the cell?
Guide intracellular organelle transport
48
What does troponin I bind to?
binds to actin to hold the troponin-tropomyosin complex in place
49
Molecular biology techniques for detecting DNA, RNA and proteins
SNOW (South - NOrth - West)
DROP (DNA - RNA - Protein)
southern blotting = detects DNA
northern blotting = detects RNA
western blotting = detects proteins
50
Treatment for homocystinurina
Pyridoxine (vitamin B6)
51
atrial natriuretic factor and brain natriuretic peptide are examples of which type of receptor
GuaNylate cyclase receptor
52
What is Lesch-Nyhan syndrome? inheritence?
X linked recessive - cause of hyperuricaemia
53
MOA of myasthenia gravis
autoantibodies block or destroy post-synaptic acetylcholine receptors
54
What term is used to describe: the proportion of a population of individuals who carry a disease-causing allele who express the related disease phenotype.
Penetrance
55
What term is used to describe: the extent to which a genotype shows its phenotypic expression in an individual.
Expressivity
56
What cell surface protein does HIV use to enter cells?
CD4
HIV - IV = roman numerals for 4
57
Which dermatome is located over index finger and thumb
C6
58
Gold standard for investigating cerebral mets
MRI with contrast
59
What does haematuria with Dysmorphic red blood cells in urine sediment indicate
Glomerular origin of haematuria
60
What is Gaucher disease? presentation?
Most common lysosomal disorder
Key feature: hepatosplenomegaly
61
What is DiGeorge Syndrome?
T cell disorder
Features remembered by CATCH 22
Cardiac abnormality, abnormal facies (cleft palate), thymic aplasia, cleft palate, hypocalcemia, chromosome 22 deletion
62
Features of noonan's syndrome
the same features as turners syndrome but with a normal karyotype (turners has an abnormal karyotype). + additional clinical features in noonans
- cardiac: pulmonary valve stenosis
- ptosis
- triangular-shaped face
- low-set ears
- coagulation problems: factor XI deficiency
63
What happens in reverse transcriptase polymerase chain reaction
RNA is converted to DNA
64
Weakness in shoulder abduction, elbow flexion and sensory loss over lateral aspect of arm = what nerve root
C5
65
What infection are those with DiGeorge syndrome particularly susceptible to?
Fungal infections - especially Cryptococcus neoformans
66
Sensory loss in middle finger and palm of hand = which nerve root
C7
67
Which stage of clinical trial looks at the efficacy of a drug?
Stage IIb
68
Tx of hepatitis B & C, Kaposi's sarcoma, metastatic renal cell cancer, hairy cell leukaemia uses which type of interferon
Interferon alpha
69
Features of fragile X syndrome
Large everything
large testes
large low set ears, long thin face, high arched palate
hypotonia
autism
mitral valve prolapse
70
What is fragile X syndrome
Trinucleotide repeat disorder
71
What is achondroplasia? Mutation in which gene? Inheritance pattern?
Achondroplasia is an autosomal dominant disorder associated with short stature. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene.
72
Leber's optic atrophy, MELAS syndrome, MERRAF syndrome and Kearns-Sayre syndrome are what type of disorders
Mitochrondrial
73
What acid/base disturbance is associated with mitochondrial diseases
Lactic acidosis
74
Features of Kearns-Sayre syndrome
mitochondrial inheritance
onset < 20-years-old
external ophthalmoplegia
retinitis pigmentosa
75
important feature for determining delirium from dementia
Fluctuating of consciousness
76
Which cells mediate hyperacute organ rejection
B cells
77
What cardiac abnormalities are turners syndrome associated with? Impact on BP
Coarctation of aorta and bicuspid aortic valve
Aortic dilation and dissection - most serious long-term health condition for women with Turners
78
What is the Hering-Breuer reflex
Physiological reflex - lung distension causes slowing down of RR and volume - protecting against potential damage from over-inflation
79
HLA associated with psoriatic arthritis and reactive arthritis
HLA B27
80
What conditions are associated with HLA DR2
Goodpastures, narcolepsy
81
Which conditions are associated with HLA DR4
T1DM, Rheumatoid arthritis ( specifically DRB1 gene)
82
Isolated prolongation of PT with normal aPTT =
issues in the extrinsic or common clotting pathways, most commonly Vitamin K deficiency, severe liver disease, warfarin therapy, or an isolated Factor VII deficiency
83
Stages of atherosclerosis
1) Endothelial dysfunction due to external factors e.g smoking
2) fatty infiltration by LDLs
3) Macrophages turn LDLs into foam cells -> inflammatory process
4) smooth muscle proliferation and migration from tunica media into intima results in fibrous capsule covering plaque
84
What medicatons are used in primary pulomonary HTN
Endothelin antagonists
- endothelin causes pulmonary vasoconstriction
85
Cardiac finding in friedrichs ataxia + inheritance pattern
Hypertrophic cardiomyopathy (HOCM)
Autosomal recessive inheritance
86
What is macrophage activation syndrome
Uncontrolled hyperinflammatory state associated with systemic autoimmune disease - in particular juvenile idiopathic arthritis
87
What is anticipation
age of onset of a condition lowers with each successive generation
88
X-linked dominant conditions (3)
Alports
Rett syndrome
Vitamin D resistant rickets
89
B3 deficiency (niacin) presentation
Pellagra - diarrhoea, dermatitis, dementia
90
Associations with HLA DR3
dermatitis herpetiformis
Sjogren's syndrome
primary biliary cirrhosis
91
Renal abnormality in Turners
Horseshoe kidney
92
Features of homocystinuria
Tall, long fingered
Downward lens dislocation
Learning difficulties
DVT!!
93
What does troponin C do
Binds calcium ions causing troponin I to release actin
94
What is Fabry disease? Inheritance? How does it present?
Lysosomal disorder
X-linked recessive
Child with generalised burning pain and paraesthesia across the body.
95
Main way to differentiate between autosomal dominant and recessive conditions
Autosomal recessive conditions are 'metabolic' - exceptions: inherited ataxias (friedrichs ataxia is recessive)
Autosomal dominant conditions are 'structural' - exceptions: hyperlipidaemia type II
96
How do central chemoreceptors regulate respiration
respond to raised [H+] in ECF (extracellular fluid) stimulates respiration
97
How do peripheral chemoreceptors regulate respiration? Where are they found?
found in carotid + aortic bodies, respond to raised pCO2 & [H+] and to a lesser extent to low pO2
98
Effects of endothelin release
Levels are raised in which conditions
long-acting vasoconstrictor and bronchoconstrictor.
Pulmonary arterial HTN
hepatorenal syndrome
Cardiac failure
99
What is pyridoxine
B6
100
Primary amenorrhoea + short stature?
Caused by?
Turners syndrome
Caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes
101
What releases interleukin 1 ?
Macrophages/ monocytes
102
What is Phenylketonuria
Metabolic disorder (autosomal recessive) caused by a disorder of phenylalanine metabolism.
103
Features of Phenylketonuria
usually presents by 6 months e.g. with developmental delay
child classically has fair hair and blue eyes
learning difficulties
seizures, typically infantile spasms
eczema
'musty' odour to urine and sweat
104
MOA of growth hormone
Acts on transmembrane receptor for growth factor
acts directly on tissues and also indirectly via insulin-like growth factor 1 (IGF-1), primarily secreted by the liver
105
Flying after surgery rules
Avoided for 10 days following abdominal surgery
laparoscopic surgery: after 24 hours
colonoscopy: after 24 hours
After plaster cast, the majority of airlines restrict flying for 24 hours on flights of less than 2 hours or 48 hours for longer flights (air may be trapped beneath the cast)
106
Significance of plasma viscosity and temporal artery biopsy in GCA
Plasma viscosity is always raised
Biopsy can be falsely negative due to skip lesions
107
Which deficiency causes annular stomatitis
B2 - Riboflavin
108
How does C1-esterase deficiency (hereditary angioedema) present?
recurrent episodes of non-pruritic angioedema without urticaria
109
Which phase does mitosis take place
M phase
110
What happens in S phase of cell cycle
Synthesis of DNA and RNA
111
Which autoimmune disorders are associated with turners syndrome
Crohns and hashimotos thyroiditis
112
Main function of IL-8
Neutrophil chemotaxis
113
Adverse features of interferon alpha
flu-like symptoms and depression
114
What does troponin T bind to
binds to tropomyosin forming a troponin-thotropoyosin complex
115
What is Lebers Optic Atrophy
Mitochondrial inheritance
Central scotoma -> loss of colour vision -> presents around age 30
116
HLA antigens are encoded by genes on which chromosome
Chromosome 6
117
Unable to abduct eye (pointing down and towards nose at rest) = which palsy
CN VI - abducens - innervates lateral rectus
'abducens unable to abduct!'
118
What foramen does the oculomotor nerve go through?
Superior orbital fissure
119
Wrist drop is caused by damaged to which nerve at axilla
Radial
120
Where is leptin secreted
Adipose tissue
121
What activates macrophages
Interferon-gamma (y)
122
Most common congenital cardiac abnormality in downs syndrome
ASD
123
Scurvy = what deficiency
Typical presentation
Ascorbic acid (vitamin C)
Gingivitis - bleeding gums
124
deficiency of alpha-galactosidase A =
Fabry's disease
125
Where does the majority of glucose reabsorption take place
Proximal convoluted tubule
126
Deficiencies in C1q, C1rs, C2, C4 lead to what
Immune complex diseases e.g SLE
127
Inhibits the mitochondrial enzyme cytochrome c oxidase = MOA of what poisoning
Cyanide
MRCP Part 1
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