clin sciences Flashcards by anj hema

Hazard ratio can be used for what?

Analysing survival over time

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What is the key factor responsible for neutrophil increase in infection?

IL8

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Mitochondrial inheritance characteristics?

Affected mothers - all children will inherit disease
Affected fathers - no children will inherit disease

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Investigation used to detect mutated oncogenes?

PCR

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Molecular techniques?

Southern - DNA
Northern - RNA
Western - protein

snow drop

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Expressivity?

Describes the extent to which a genotype shows its phenotypic expression in an individual

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Penetrance

Describes ‘how likely’ it is that a condition will develop

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Allelic heterogeneity

Different mutations within the same gene causing similar clinical conditions

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Germline mosaicism

Mutation is present in a subset of germ cells, potentially leading to offspring with genetic conditions despite unaffected parents

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Variable inheritance

Differences in the pattern of inheritance, such as autosomal dominant versus recessive

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First line for prolactinomas?

Cabergoline - dopamine agonists

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Vitamin D function?

Increases plasma phosphate

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What would exclude dx of GCA?

Normal plasma viscosity

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Parametric tests and their definitions?

Student’s t-test: paired/unpaired
Pearson’s product-moment coefficient: correlation

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Non parametric tests?

Mann Whitney U test: compares ordinal, interval or ratio scales of unpaired data
Wilcoxon: compares 2 sets of obs i.e. before and after on same population after intervention
Chi squared test: compares proportions/percentages i.e. compares % of pts who improved following 2 diff interventions
Spearman, Kendall rank: correlation

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Definition of paired and unpaired?

Paired: one population
Unpaired: comparing response to diff interventions in 2 groups

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c-MYC oncogene?

Burkitt’s lymphoma

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n-MYC oncogene?

Neuroblastoma

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BCL-2 oncogene?

Follicular lymphoma

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RET oncogene?

MEN II, III

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RAS oncogene?

Pancreatic cancer

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Levels of evidence?

1a - meta analysis of RCTs - GRADE A
1b - 1 RCT - GRADE A
2a - 1 non randomised CT - GRADE B
2b - 1 experimental trial - GRADE B
3 - case controlled, correlation studies - GRADE B
4 - panel of experts - GRADE C

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How does NO improve oxygenation?

Pulm vasodilation and inceased cyclic GMP

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Which structure is involved in the degradation of polypeptides?

Proteasome

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Poor genotype: phenotype correlation in which type of inheritance?

Mitochondrial

LBBB occurs due to?

Damaged LBBB and associated Purkinje fibres

Developmental delay and cherry red spot on the macula, without hepatomegaly or splenomegaly?

Tay Sachs

Which drug can cause sleep disturbance?

Beta blockers

Most common cause of death in patients with HOCM?

Vent arrythmias

Peroxisomes function?

Catabolism of long chain fatty acids

Guttate psoriasis appearance and rx?

Teardrop lesions - UVB phototherapy

Most common cardiac abnormality in Turner's?

Bicuspid aortic valve

Anticipation is seen in which conditions?

Myotonic dystrophy, fragile X, Huntington's

Which test is most likely to remain positive in a patient with syphilis despite treatment?

TPHA

Mechanism of vitamin K?

Cofactor in the carboxylation of clotting factors 2 7 9 10

What does adrenal medulla secrete?

Adrenaline

Which deficiency predisposes to Neisseria meningitis infections?

C5-9

Which cytokine is involved in the activation of macrophages?

Interferon gamma

Following a diagnosis of tetanus, what is the most appropriate antibiotic therapy to give with human tetanus immunoglobulin?

IV metro

How to show publication bias in meta analysis?

Funnel plot

IL8 function?

Neutrophil chemotaxis

Where does RNA splicing take place?

Nucleus

Homocystinuria is caused by a deficiency of?

Cystathionine beta synthase

This condition typically presents with proteinuria and is associated with early onset strokes or myocardial infarctions with a typical rash known as angiokeratomas?

Fabry disease

A CT head is organized, which demonstrates scattered cerebral calcification bilaterally and hydrocephalus?

Congenital toxoplasmosis

HLA B27 present in?

Reactive arthritis

The HLA-DRB1 gene is the major genetic susceptibility locus for?

Rheumatoid arthritis

The adrenergic receptor is an example of a?

G protein coupled receptor

Increased lung compliance?

Age and emphysema

Decreased lung compliance?

Pulmonary fibrosis, pulmonary oedema, pneumonectomy, kyphosis

N1 → N2 → N3 → REM

Theta (jerks) -> Sleep spindles/K complexes (deeper sleep) -> Delta (night terrors, nocturnal enuresis) -> Beta (dreaming, erections)

Which pneumocyte secretes surfactant?

Type 2

HIV, neuro symptoms, single brain lesions with homogenous enhancement?

Lymphoma

Linear, well-demarcated skin lesions that appear suddenly, with 'la belle indifference'?

Dermatitis artefacta

Specificity?

Proportion of patients without the condition who have a negative test result

How to calculate positive predictive value?

Calculating specificity?

Beriberi - dry and wet?

Dry - causes peripheral neuropathy Wet - causes HF

Which one of the following immunological changes is seen in progressive HIV infection?

Increase in B2-microglobulin levels

Treating immunocompromised patients with cryptosporidiosis?

Nitazoxanide

Fabry disease inheritance?

X linked recessive

Which surface marker on Reed Sternberg cells?

CD15

Tall, long fingered, downward lens dislocation, learning difficulties, DVT?

Homocystinuria

ANP role?

Vasodilator

Usual outcome in case control study?

Odds ratio

Scabies reaction?

Type 4 hypersensitivity

Achondroplasia inheritance and mutation in which gene? Typical features?

Auto dominant, FGFR-3 Features - trident hands, short limbs and fingers, flattened nasal bridge

Alkaptonuria (ochronosis) inheritance and mutation in which gene? Typical features?

Auto recessive, HGD Features - pigmented sclera, black urine upon prolonged exposure, renal stones

Where is ANP secreted from?

Right atrium

Autosomal dominant conditions tend to be structural or metabolic?

Structural

Which type of bias is a problem in case control studies?

Recall bias

Which type of bias is important in meta analyses?

Publication bias

Issue only in non blinded trials?

Expectation bias

Pleomorphic tumour cells border necrotic areas?

GBM

Spindle cells in concentric whorls and calcified psammoma bodies?

Meningioma

Derived from remnants of Rathke pouch?

Craniopharyngioma

PTH hormone function?

Increases plasma calcium, decreases plasma PO4

Cardiac action potentials? Explain phases and mechanism?

Phase 0 - rapid depol - rapid sodium influx Phase 1 - early repol - efflux of potassium Phase 2 - plateau - slow influx of ca Phase 3 - final repol - efflux of potassium Phase 4 - resting potential restored by sodium potassium pump

Describe cell cycle?

G0 - resting phase G1 - determines length of cell cycle S - synthesis of DNA RNA histone, centrosome duplication G2 - cell size increase M - mitosis, shortest phase of cycle

Karyotype in Noonan's vs Turner's?

Noonan's - normal karyotype Turner's - abnormal karyotype

Wide vermillion border, small spaced teeth and a flat nasal bridge, disinhibited friendly behaviour?

William's syndrome

Which karyotypes is associated with short stature?

45XO

Shortened neck, protruding tongue and Brushfield's spots?

Downs

Primary amenorrhoea, short in stature with low-set ears and a webbed neck? Associations?

Turner's, coarctation of aorta + aortic dilation

Fever, grey discolouration, urgent bone marrow biopsy? Rx?

Visceral leishmaniasis, rx - sodium stibogluconate

Normotension, hypokalaemia + hypocalciuria?

Gitelman's

Vit D mechanism?

Increases calcium absorption through small intestine

What happens during reverse transcriptase reaction?

RNA -> DNA

Which virus is strongly associated with oropharyngeal ca?

HPV 16

Calculating positive predictive value?

Sensitivity/(1-Specificity)

NNT calculation? Ideal value?

1/(absolute risk reduction) NNT is a time-specific epidemiological measure of the number of patients who need to be treated in order to prevent one adverse outcome. A perfect NNT would be 1, where everyone improves with treatment, thus the higher the NNT, the less effective the treatment.

Cushing's reflex?

Brady, hypertension, wide pulse pressure

Function of microtubules?

Microtubules help guide movement during intracellular transport and also help bind internal organelles

Man has haemophilia - chance of his daughter's son having condition - daughter's partner no PMH? Inheritance of haemophilia?

50% - x linked recessive

Interferon gamma produced by which cells?

Natural killer and T cells

Flu-like symptoms, dry cough, dyspnoea, relative bradycardia (65 bpm despite his fever), and hyponatraemia suggest pneumonia due to?

Legionella

The nicotinic acetylcholine receptor is an example of a?

Ligand-gated ion channel receptor

Patients who are immunosuppressed secondary to long-term steroids or methotrexate should receive x if they are exposed to chickenpox and have no antibodies to varicella?

VZ immunoglobulin

A 15-year-old boy is reviewed. He has been referred by his GP with ptosis, diplopia and night blindness. On examination he is noted to have a degree of ophthalmoplegia, bilateral partial ptosis and evidence of retinitis pigmentosa during fundoscopy. His mother developed a similar problem when she was 18-years-old. What is the most likely diagnosis?

Kearns-Sayre

Eczema herpeticum appearance?

Monomorphic, blistered, punched out lesions

Probability of detecting a statistically significant difference?

Power

Calculating NNT?

Steps for calculating NNT Calculate the absolute risk (AR) for the control and treatment groups Calculate the absolute risk reduction (ARR) by subtracting the AR of the treatment group from the AR of the control group Calculate the NNT by taking the reciprocal of the ARR - (1/ARR)

clin sciences Flashcards

(103 cards)