Clinical Sciences Flashcards
What is the standard error?
SE = SD/square root of the number of samples
What is the relative risk?
EER/CER
What is the relative risk reduction?
(EER-CER)/CER
What is a type 1 error?
Rejecting H0 when null hypothesis is true (false positive)
What is a type 2 error?
Accepting H0 when null hypothesis is false (false negative)
What chromosome is DiGeorge syndrome associated with
22q
What are the symptoms/signs of DiGeorge syndrome
CATCH 22 - cardiac defects, abnormal facies, thymic aplasia, cleft palate, hypocalcaemia
What is the main constituent of pulmonary surfactant and which cells secrete this?
Dipalmitoyl phosphatidylcholine - type 2 pneumocytes
What is the treatment of homocystinuria
Pyridoxine (Vitamin B6)
What is the most common renal abnormality in Turners syndrome
Horseshoe kidney
What inherited syndrome is associated with early onset breast cancer, sarcoma and leukaemia
Li-Fraumeni syndrome (p53)
Which condition is associated with short stature and primary amenorrhoea
Turners syndrome
What does ELISA testing detect
various peptides, proteins, antibodies and antigens (immunological testing)
What do Th1 cells secrete
IFN-gamma, IL-2, IL-3
What do Th2 cells secrete
IL-4, IL-5, IL-6, IL-10, IL-13
What are Th1 cells involved in
cell-mediated response and delayed (type IV) hypersensitivity
What are Th2 cells involved in
mediating humoral (antibody) immunity
What pattern of inheritance is colour blindness
X-linked recessive
What is the function of leukotrienes
bronchoconstriction, mucous production, increase vascular permeability, attract leukocytes
What is in direct contact with the right kidney
Right suprarenal gland, Duodenum, Colon
What is in direct contact with the left kidney
Left suprarenal gland, Pancreas, Colon
what mode of inheritance is albinism
autosomal recessive
What level of evidence is a meta analysis of RCTs
Ia
What level of evidence is at least 1 RCT
Ib
What mode of inheritance is congenital adrenal hyperplasia
Autosomal recessive
What deficiency causes Fabry’s disease
Alpha-galactosidase-A
What deficiency causes Tay-Sachs disease
Hexosaminidase A
Which nerve root relates to sensation in middle finger and palm of hand
C7
Which nerve root relates to sensation in thumb and index finger
C6
Which nerve root carries sensation from umbilicus
T10 (Belly-butTEN)
Which autosomal dominant condition causes webbed neck, short stature, triangular shaped face and pulmonary valve stenosis but with a normal karyotype?
Noonan’s syndrome
Which non-parametric test compares paired data ‘before’ and ‘after’
Wilcoxon signed-rank test
Which non-parametric test compares proportions and percentages
Chi-squared test
Which non-parametric test is used to compare ordinal, interval, or ratio scales of unpaired data
Mann-Whitney U test (U for Unpaired)
What is used to prevent acute mountain sickness
Acetazolomide
What is the management of high altitude pulmonary oedema
Descent, oxygen, nifedipine/dexamethasone/acetazolomide/phosphodiesterase V inhibitors
What is the management of high altitude cerebral oedema
Descent, dexamethasone
What kind of primary immunodeficiency is DiGeorge Syndrome
T-cell disorder
Which primary immunodeficiencies are combined B and T cell disorders
SCID, ataxia telangiectasia, Wiskott-Aldrich syndrome
What causes learning difficulties, large low set ears, large testicles and hypotonia in men
Fragile X syndrome
Which receptors do INF-alpha and INF-beta bind to
Type 1 receptors
Which gene is fibrillin-1 located on
Chr 15
Which trisomy causes Patau syndrome
Trisomy 13
Which trisomy causes Edwards syndrome
Chr 18
What is the most common lipid storage disorder
Gaucher’s disease
Which lysosomal storage disorder causes cherry red spots on the macula without hepatospenomegaly
Tay-Sach’s disease
What is the genetic change that occurs in Prader-Willi syndrome
Paternal microdeletion of 15q
Which X-linked recessive condition causes aggressive behaviour and hyperuricaemia
Lesch-Nyhan syndrome
Which chromosome is affected in William’s syndrome
Chr 7 microdeletion
What are the inherited mitochondrial diseases
Leber’s optic atrophy, MELAS syndrome, MERRF syndrome, Kearns-Sayre syndrome, sensorineural hearing loss
What is the standard deviation
SD = square root (variance)
What are the common causes of endothelial damage in atherosclerosis formation
Hypertension, smoking, hyperglycaemia, hypercholesterolaemia
What is the negative likelihood ratio
Negative = (1 - seNsitivity)/specificity
What is the positive likelihood ratio
Positive = sensitivity / (1-sPecificity)
Which cancers most commonly spread to the brain
Lung, breast, bowel, melanoma, kidney
Which brain tumour has central necrosis and a rim that enhances with contrast
Glioblastoma multiforme
Which brain tumour is located at the falx cerebri/superior sagittal sinus and cause compression of the brain parenchyma
Meningioma
What are renal stones most commonly composed of
Calcium oxalate
What GA can pregnant ladies fly until
36 weeks for single, 32 weeks for multiple pregnancy
What pulse pressure is seen in raised ICP along with bradycardia and irregular breathing
Widened pulse pressure
Which CD proteins are found on the surface of haematopoietic stem cells
CD34
Which CD proteins are found on the surface of macrophages
CD14, CD40, MHC II, B7
Which receptors are nicotinic Ach receptors
Ligand-gated ion channel receptors
Which receptors are muscarinic Ach receptors
G-protein coupled receptors
Which receptor type is GABA and Glutamate
Ligand-gated ion channels
Which receptor type is insulin, IGF and EGFR
Tyrosine kinase receptors
Which receptor type is ANP, BNP and NO
Guanylate cyclase receptors
Which type of receptor are adenosine, adrenergic receptors, GH and GABA-B
G protein-coupled receptors
Which stage of the cell cycle determines cell cycle length
G1 phase
What is added to proteins by the golgi apparatus to designate their transport to lysosomes
Mannose-6-phosphate
Where are ribosomes produced
Nucleolus
What is the function of peroxisomes
Catabolism of very long chain fatty acids
Where are protein molecules destined for that have been tagged with ubiquitin
Proteasomes
What is the power of a study
The probability of correctly rejecting the null hypothesis when it is false
(1 - probability of a type II error)
Where does RNA splicing take place
The nucleus