MRCP Part 1 & 2 > Clinical Sciences > Flashcards

Clinical Sciences Flashcards

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1
Q

Congenital Infections: Rubella, Toxoplasmosis and CMV

A

Sensorineural deafness in rubella and CMV
Visual impairment - rubella (congenital cataracts), toxoplasmosis (chorioretinitis, fluffy white retinal lesions)
Cerebral palsy
Hepatosplenomegaly
Anaemia in toxoplasmosis and CMV
Purpuric skin lesions in rubella and CMV

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2
Q

Stages of atherosclerosis:

A
  1. Endothelial dysfunction is triggered e.g. smoking, hypertension and hyperglycaemia
    - pro-inflammatory, pro-oxidant, proliferative and reduced nitric oxide bioavailability
  2. Fatty infiltration of the subendothelial space by low-density lipoprotein (LDL) particles
  3. Monocytes migrate from the blood and differentiate into macrophages –> phagocytose oxidized LDL, slowly turning into large ‘foam cells’ –> macrophages die the result can further propagate the inflammatory process.
  4. Smooth muscle proliferation and migration from the tunica media into the intima results in formation of a fibrous capsule covering the fatty plaque.
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2
Q

NO

A

binds to the haem group of soluble guanylyl cyclase (sGC) –> activated sGC then catalyses the conversion of guanosine triphosphate (GTP) to cyclic guanosine monophosphate (cGMP) –> triggers vasodilation + inhibits platelet aggregation

greatest effect on large veins

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3
Q

Hypoxia - response in pulmonary circulation

A

Pulmonary arteries constrict to maximise blood flow to well aerated areas of lung

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4
Q

Complement deficiencies

A

Most are AR except for properdin deficiency

C1 inhibitor (C1-INH) protein deficiency
- hereditary angioedema

C1q, C1rs, C2, C4 deficiency (classical pathway components) - immune complex disease
e.g. SLE, HSP

C3 deficiency - recurrent bacterial infections

C5 deficiency - Leiner disease
severe form of seborrhoeic dermatitis in infants, associated with recurrent diarrhoea

C5-9 deficiency - encodes the membrane attack complex (MAC), particularly prone to Neisseria meningitidis infection

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5
Q

Autosomal recessive vs dominant

A

Autosomal recessive - ‘metabolic’ - exceptions: inherited ataxias

Autosomal dominant - ‘structural’ - exceptions: hyperlipidaemia type II

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6
Q

Sleep Stages

A

N1 (light sleep, can have hypnic jerks) → N2 → N3 (parasomnias such as night terrors, nocturnal enuresis, sleepwalking) → REM (dreaming, loss of muscle tone)
The Sleep Doctor’s Brain
Theta → Sleep spindles/K-complexes → Delta → Beta

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7
Q

Immunoglobulins

A

IgA: mucosal immunity
- risk of anaphylactic reaction to blood product in deficiency
- more likely to get IgG deficiency –> recurrent bacterial infections
IgG: most abundant, crosses placenta
- IgG1 deficiency - Haemophilus influenzae
- IgG3 deficiency - Moraxella
IgM: first produced in infection
IgE: made by plasma cells, allergy and parasitic infections
IgD: unclear function but activates B cells

Fc region of antibody: interacts with immune cells
Fab: antigen binding

IgM, IgG - activates classical complement pathway
IgA - activates alternative complement pathway

IgM to IgG - switch of constant region in heavy chain

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8
Q

HLA associations

A

Encoded on chromosome 6

HLA-A3 - haemochromatosis

HLA-B51 - Behcet’s disease

HLA-B27 -
ankylosing spondylitis
reactive arthritis
acute anterior uveitis
psoriatic arthritis

HLA-DQ2/DQ8 - coeliac disease
- also predispose to vaccine failure

HLA-DR2
narcolepsy
Goodpasture’s
MS

HLA-DR3
dermatitis herpetiformis
Sjogren’s syndrome
primary biliary cirrhosis
Addison’s

HLA-DR4
T1DM
rheumatoid arthritis (in particular DRB1)

HLA Cw6 - psoriasis

HLA-DRB1*15:02 - Goodpasture’s syndrome

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9
Q

Interleukins: source and functions
IL-1, IL-6, IL-8 and TNF-alpha
(IL-2)
(IL-3)
IL-4
IL-5
IL-6
IL-10
IL-12

A

IL-1, IL-6, IL-8 and TNF-alpha - from macrophages, induces fever
- IL-8 and TNF-alpha - also neutrophil chemotaxis

IL-4 - Th2 cells, stimulates proliferation and differentiation of B cells
IL-5 - Th2 cells, stimulate production of eosinophils
IL-6 - also from Th2 cells, stimulates differentiation of B cells

IL-10 - Th2 cells, Inhibits Th1 cytokine production, an ‘anti-inflammatory’ cytokine
IL-12 - Dendritic cells + macrophages + B cells, Activates NK cells and stimulates differentiation of naive T cells into Th1 cells

IL-2 - Th1 cells, stimulates growth and differentiation of T cell
IL-3 - activated T helper cells, stimulates differentiation and proliferation of myeloid progenitor cells

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10
Q

Respiratory Control

A

Central regulatory centres
Central (detects H+) and peripheral chemoreceptors (on carotid bodies, detects peripheral pH, CO2 and O2)
CO2 diffuse into CSF –> dissociates into H+

Pulmonary receptors
- stretch receptors, lung distension causes slowing of respiratory rate (Hering-Bruer reflex)
- irritant receptor –> bronchoconstriction
- juxtacapillary receptors, stimulated by stretching of the microvasculature

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11
Q

DiGeorge Syndrome

A

Defective T-cell development and function - prone to fungal infections
CATCH22:
C - Cardiac abnormalities
A - Abnormal faces
T - Thymic aplasia
C - Cleft palate
H - Hypocalcaemia/hypoparathyroidism
22 - Caused by chromosome 22 deletion

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12
Q

Vitamin B deficiencies
B1: Thiamine
B2: Riboflavin
B3: Niacin deficiency

Biotin

C

Zinc

A

Thiamine:
- Wernicke’s encephalopathy: nystagmus, ophthalmoplegia, conjugative gaze palsy and ataxia
- Korsakoff’s syndrome: amnesia, confabulation
- dry beriberi: peripheral neuropathy
- wet beriberi: DCM
Riboflavin - angular cheilitis
- required for hydrogen-transfer chain in mitochondria
Niacin - pellagra (dermatitis i.e. Casal necklace, diarrhoea, dementia)

Biotin - alopecia and scaly erythematous dermatitis located around body orifices, hearing and visual disturbances

Vit C increases iron absorption
- deficiency cause capillary fragility (bleeding tendency) and poor wound healing
- required for hydroxylation of proline and lysine AA in procollagen to form hydroxyproline and hydroxylysine

Zinc
- similar to riboflavin, dermatitis in acral, peri-orificial and perianal distribution

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13
Q

Molecular Biology Technique

A

SNOW (South - NOrth - West blotting)
DROP (DNA - RNA - Protein)

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14
Q

Respiratory Physiology

A

Chloride shift
CO2 diffuses into RBCs
CO2 + H20 (carbonic anhydrase) → HCO3- + H+
H+ combines with Hb
HCO3- diffuses out of cell,- Cl- replaces it

Bohr effect
increasing acidity (or pCO2) means O2 binds less well to Hb

Haldane effect
increase pO2 means CO2 binds less well to Hb

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15
Q

X-linked recessive vs Mitochondrial

A

male affected, female carrier and unaffected
think young boys
e.g. G6PD, Fabry’s

Inheritance from affected female only
Poor genotype:phenotype correlation

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16
Q

Tumour suppressor genes (loss of function causing increased risk of cancer)

A

p53: many cancer, Li-Fraumeni syndrome
APC and MLH1: CRC
BRCA 1&2: breast and ovarian, prostate
- melanoma and pancreatic in both sex
NF1: neurofibromatosis
Rb: retinoblastoma
WT1: Wilm’s tumour
Multiple tumour suppressor 1 (MTS-1, p16): melanoma
PTEN: Cowden syndrome (breast, colon, thyroid, endometrial, AK, mucocutaneous neuromas)

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17
Q

Cell organelles:
1. ER
2. Golgi apparatus
3. Mitochondrion
4. Nucleus
5. Lysosome
6. Nucleolus
7. Ribosome
8. Peroxisome
9. Proteasome

A
  1. Rough - translation and folding of new proteins, Smooth - steroid, lipid synthesis
  2. Modifies, sorts, and packages these molecules that are destined for cell secretion, adds mannose-6-phopshate to designate transport to lysosome
  3. Aerobic respiration
  4. DNA maintenance, RNA transcription, RNA splicing (remove non-coding introns)
  5. Breakdown of large molecules such as proteins and polysaccharides
  6. Ribosome production
  7. RNA translation
  8. Catabolism of very long chain fatty acids and amino acids, forms hydrogen peroxide
  9. Degradation of protein molecules that have been tagged with ubiquitin
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18
Q

Trinucleotide repeat disorders

A

Fragile X (CGG)
- X-linked dominant
- learning difficulties
- large low set ears, long thin face, high arched palate
- macroorchidism
- joint laxity
- strabismus
- mitral valve prolapse

Huntington’s (CAG) - AD
Myotonic dystrophy (CTG) - AD
Friedriech’s ataxia (GAA) - AR

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19
Q

Cardiac Action Potential

A

Rapid depolarisation: rapid Na influx
Early repolarisation: K efflux
Plateau: slow influx of Ca
Final repolarisation: K efflux
Restoration of ionic concentrations: resting potential is restored by Na+/K+ ATPase, slow influx of Na

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20
Q

Deletion of Chromosome 15

A

Prader-Willi - paternal (non-mendelian)
- elevated Gherlin and hypogonadism

Angelman syndrome - maternal

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21
Q

CD molecules

A

Help 2 and Kill 1
helper T cells CD4 - MHC2, killer T cells CD8 - MHC 1
CD15: expressed on Reed-Sternberg cells
CD21: receptor on EBV

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22
Q

ANP

A

secreted mainly from myocytes of RA and RV in response to increased blood volume, degraded by endopeptidases
- natriuretic, i.e. promotes excretion of sodium
- lowers BP
- antagonises actions of angiotensin II, aldosterone

BNP (released from ventricle)
- same as ANP
- vasodilator

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23
Q

Noonan vs Turners

A

Same features but different karyotypes
Turners: 45X
Noonan: AD, PS = most common cardiac defect

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24
Membrane Receptors
Ion channels e.g. local anaesthetics Ligand-gated ion channel receptors - generally mediate fast responses e.g. nAChRs, GABA, glutamate Tyrosine Kinase Receptors - phosrylation of agents then causing cell growth and differentiation e.g. insulin, EPO, TPO Guanylate cyclase receptors - intrinsic enzyme activity e.g. ANP, BNP G protein-coupled receptors - mediate slow transmission and affect metabolic processes (Gs, Gi acts on adenylate cyclase, Gq acts on phospholipase C) e.g. adrenoreceptor, P1 (mast cell function and eosinophil apoptosis) - produce secondary messengers e.g. cAMP or protein phosphorylation cascade Nuclear receptor - increased or decreased gene transcription e.g. levothyroxine/thyroid hormones
25
X-linked dominant conditions
Alport's syndrome Rett syndrome Vit D resistant rickets Fragile X
26
Wernicke Encephalopathy: mechanism
decreased activity of thiamine dependent enzymes --> impaired glucose metabolism
27
Interferons: alpha, beta and gamma
Alpha: produced by leucocytes, used in cancers, S/E flu-like symptoms, depression Beta: produced by fibroblasts, reduces frequency of exacerbation in MS (by increased MHC I expression) (alpha and beta cause antiviral action, bind to same receptors) Gamma: produced by NK cells/T-helper cells, immunomodulation + activates macrophages, used in chronic granulomatous disease and osteoporosis (by increased MHC II expression on APC)
28
Cell Cycle
G0 - resting phase G1 - cells increase in size, under influence of p53, determines length of cycle S - Synthesis of DNA, RNA and histone, centrosome duplication G2 - cells continue to increase in size M - mitosis, shortest phase
29
Fabry's disease
X-linked recessive deficiency of enzyme, accumulation of fatty substance Furry vision (lens opacities) Angiokeratomas Burning pain/sensory neuropathy in childhood uRine - nephrotic syndrome Y: early cardiovascular disease - abdo pain and diarrhoea
30
Hypersensitivities
I: anaphylactic II: cell bound e.g. ITP, Goodpastures, Haemolytic transfusion reaction, pemphigus vulgaris/bullous pemphigoid, rheumatic fever III: immune complex e.g. SLE, PSGN IV: delayed hypersensitivity e.g scabies, TB
31
Conduction velocity
Atrial conduction: 1m/sec AV node: 0.05m/s Ventricular conduction: fastest in Purkinje fibres (2-4m/s)
32
Achondroplasia
mutation in FGF3 - new germline mutation normally although AD short limbs (rhizomelia) with shortened fingers (brachydactyly) large head with frontal bossing and narrow foramen magnum midface hypoplasia with a flattened nasal bridge 'trident' hands lumbar lordosis
33
Adaptive immune response
Helper T cells and Cytotoxic T cells - recognises antigen on MHC, mediate acute and chronic organ rejection B cells - acts as APC, mediates hyper acute organ rejection
34
Th1 vs Th2
Th1 - cell-mediated response, type IV hypersensitivity - secretes IFN-gamma, IL-2, IL-3 Th2 - mediating humoral/antiobody immunity - secretes other IL
35
Endothelin
potent, long-acting vasoconstrictor and bronchoconstrictor cause ischaemia, asthma, primary pulmonary HTN - NO and prostacyclin inhibits release - ADH, angiotensin II, hypoxia, mechanical shearing force stimulates release
36
Nephron parts & function
PCT: glucose reabsorption Ascending loop of Henle: Na, K, Cl reabsorbed, impermeable to water Descending loop of Henle: low permeability to most ions --> high level of water reabsorption DCT: affected by circulatory hormone levels (e.g. aldosterone)
37
Troponin types
troponin C: binds to Ca ions troponin T: binds to tropomyosin, forming a troponin-tropomyosin complex troponin I: binds to actin to hold the troponin-tropomyosin complex in place
38
Calcium homeostasis
PTH - increases bone resorption - increases renal tubular reabsorption of Ca - increases synthesis of 1,25(OH)2D - decreases renal PO4 reabsorption Vitamin D - increases plasma Ca and PO4 by promoting renal tubular absorption (in PCT) - increase gut absorption of calcium in small intestine Calcitonin - inhibits osteoclasts - inhibits renal tubular absorption of calcium
39
Oncogenes
Gain in function hence increased risk of cancer ABL - CML c-MYC - BL n-MYC - Neuroblastoma BCL-2 - FL RET - MEN 2 and 3 RAS - KRAS (pancreatic, leukaemia, colon) and NRAS (melanoma) HER2
40
PCR vs FISH
PCR: DNA amplification, to identify a particular DNA sequence TP (triple repeat primed)-PCR RT (reverse transcription)-PCR to identify specific sequences of RNA - reverse transcriptase generates cDNA from RNA template FISH: label DNA
41
Reticulocytes (premature red cell)
reticular/mesh-like network of ribosomal RNA
42
Hunger Hormones
Leptin: produced by adipose tissue, acts on hypothalamus to decrease appetite + stimulate GnRH Gherlin: produced by P/D1 cells lining fundus of stomach and epsilon cells of the pancreas, increase appetite
43
Inherited metabolic disorders
Lysosomal storage disease - Gaucher's disease (glucocerebrocidase): osteopenia, raised serum ACE and acid phosphatase (Type 1 has no neurological involvement, only in Type 2 and 3) = most common - Tay-Sachs disease: cherry red spot on macula, developmental delay - Fabry disease (alpha-galactosidase A): cherry red spot on macula - Niemann-Pick's: cherry red spot on macula, neurological impairment All have deficiency in enzyme All cause hepatosplenomegaly except Tay-Sachs (true size)
44
Alkaptonuria 'black bone disease' vs PKU
homegentistic acid oxidase deficiency - pigmented sclera - urine turns black if left exposed to the air - intervertebral disc calcification may result in back pain - renal stones PKU - blue eyes - learning difficulties - seizures, typically infantile spasms - eczema - 'musty' odour to urine and sweat
45
Turner's syndrome
- webbed neck - primary amenorrhoea - bicuspid valve > aortic coarctation - short stature - horseshoe kidney - short neck, widely spaced nipples Mx: oestrogen + progesterone
46
Clinical Trials
Phase 0 to IV ESAAP Exploratory studies, Safety, Assessment of efficacy (small sample), Assessment of effectiveness (large sample), Postmarking surveillance (for adverse events profile)
47
Mitochondrial disease
Common features: neurological: seizures, developmental delay - ataxia, spasticity, peripheral neuropathy - stroke-like episodes (esp. MELAS) - sensorineural hearing loss - ophthalmoplegia and ptosis muscular: proximal myopathy, exercise intolerance lactic acidosis (due to impaired oxidative phosphorylation) e.g. MELAS syndrome ocular: - Leber’s hereditary optic neuropathy: telangiectasia, pseudo-oedema, central scotoma (starts unilateral first), symptoms of proximal myopathy - Pigmentary retinopathy e.g. Kearns-Sayre syndrome (+ opthalmoplegia, cardiac conduction defect) cardiac: cardiomyopathy (hypertrophic or dilated), conduction defects/arrhythmias endocrine/metabolic: DM (often early onset), short stature, growth failure Histology: red, ragged fibres e.g. MERRF syndrome
48
Types of mutation
Frameshift - alteration causing change in reading of codons Missense - alteration causing a codon for one amino acid converted into a codon for second amino acid Nonsense - stop codon inserted Point - single nucleotide changed in DNA molecule Read-through - termination codon changed into a codon for amino acid SNP (single nucleotide polymorphism): substitution of a nucleotide for any other nucleotide
49
Apoptosis
Intrinsic: initiated at mitochondrial level Extrinsic: death receptor on target cell - attract intracellular adapter proteins, which in turn attract procaspase 8 - activates downstream caspases e.g. caspase 3 (typical executioner caspase) resulting in apoptotic changes
50
Linkage analysis
microsatellite markers to track allele carrying mutation require samples of affected and unaffected members
51
Mitosis
Prophase: chromatin condense to chromosomes Prometaphase: nuclear membrane breaks down allowing the microtubules to attach to the chromosomes Metaphase: chromosomes aligned at middle of cell Anaphase: paired chromosomes separate at the kinetochores and move to opposite sides of the cell Telophase: chromatids arrive at opposite poles of cell and unwind, nuclear envelop around nucleus of cell, nucleoli reappear Cytokinesis: actin-myosin complex in the centre of the cell contacts resulting in it being 'pinched' into two daughter cells Telomere shorten with each cell division - cause cell growth arrest - cancer cells pathologically activate telomerase, resulting in telomere immortalisation
52
GLUTs
GLUT 1 = enable basal non-insulin stimulated glucose uptake into cells GLUT 2 = transports glucose into beta cells GLUT 3 = enable basal non-insulin stimulated glucose uptake into neurones GLUT 4 = glucose uptake into muscle and adipose tissue cells following stimulation of insulin receptor GLUT 5 = fructose transport on apical order of enterocytes in small intestine
53
Wolfram syndrome
AR DIDMOAD (DI, DM, optic atrophy and sensorineural deafness)
54
Degranulation vs Phagocytosis
Basophils, eosinophils and mast cells all contain lysosomes to fuse with plasma membrane to discharge contents vs chemotaxis, ingestion within phagosome, intracellular enzymatic degradation and exocytosis
55
Desensitisation therapy
ACEi may result in prolonged and severe systemic allergic reactions
56
Malnutrition
Marasmus - normal serum albumin level Kwashiorkor - hypoalbuminaemia and oedema - linked to steatohepatitis and hypercholesterolaemia
57
microRNAs
binds to complementary sequences on target messenger RNAs (mRNAs) --> degradation or translational repression
58
Respiratory burst in Neutrophil
occurs in phagosome - neutrophil engulf pathogens into neutrophil where reactive oxygen species kill ingested microbes
59
Orthostatic changes
SVR increases from sitting to standing to combat effects of venous pooling which is reducing BP
60
Hayflick limit
maximum number of times a human cell can divide
61
Antigen presentation
Antigen-presenting cells: macrophages, B-cells, dendritic cells - also basophils and eosinophils - present to T-helper cells Virally infected cells - present to cytotoxic T-cells
62
Senescence
cessation of mitosis due to progressive shortening of telomere length with repeated cell division
63
Aneuploidy
no. of chromosomes not exact multiple of haploid number due to missing/additional chromosome e.g. Down's (47, XY, +21)
64
Valsalva manouevre
increased intrathoracic pressure shift blood from pulmonary circulation to LA reduced venous return to right side of heart
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