Clinical science Flashcards
Desmopressin mechanism of action?
primarily works in the collecting ducts of the kidney by binding to V2 receptors, thereby promoting the insertion of aquaporin-2 water channels, which allows more water to be reabsorbed back into the circulation.
Used in Cranial diabetes insipidus
What is hazard ratio
The hazard ratio is typically used when analysing survival over time
Fabry disease
X-linked recessive
deficiency of alpha-galactosidase A
Features
burning pain/paraesthesia in childhood
angiokeratomas
lens opacities
proteinuria
early cardiovascular disease
Vit B 2 - riboflavin deficiency
B3 - niacin def
B1 - Thiamine def
B2 - Angular chelitis
B3 - pellagra Dermatitis Diarrhoea Dementia
B1 - beriberi dry (neurological symptoms) or wet (cardiac failure) / wernicke’s-korsakoff syndrome
sepsis mediators
IL1 - causing vasodilation and hypotension in sepsis
IL6 and TNF a
Numbers needed to treat NNT formula
1/Absolute risk reduction
ARR = EER (experimental event rate) - CER (control event rate)
EER and CER formula = Number who had particular outcome / Total number involved in experiment or control
X linked dominant disease
FAIR
Familial hypophosphatemic rickets
Fragile X syndrome
Alport
Incontinentia pigmenti
Rett syndrome
Cerebellar signs, pes cavus, cardiomyopathy
Fredrich ataxia, autosomal recessive inheritance
Blotting techniques used to study specific cellular structures?
SNOW (South - NOrth - West)
DROP (DNA - RNA - Protein)
Best source of folic acid
Liver - Beef liver
Digeorge syndrome features
CATCH22 (cardiac abnormality, abnormal facies, thymic aplasia, cleft palate, hypocalcemia, chromosome 22) is commonly used to remember these clinical features.
Congenital rubella features
sensorineural deafness and cataract
Nerves affected in # of humerus
ARM - prox mid distal
Axillary, radial and median respectively
Most common cardiac defect in turner
Biscuspid aortic valve
Interleukin function
Fish, TO BE EATEN
IL-1 F: Fever
IL-2 T: T cell production
IL-3 B: Bone marrow stimulation
IL-4 E: IgE
IL-5 EA: Eosinophils, IgA
IL-6 TE: Temperature Elevation
IL-8 N: Neutrophils Chemotaxis
Ragged red fibres on muscle biopsy
Mitochondrial disease
examples - Leber’s optic atrophy
symptoms typically develop at around the age of 30 years
central scotoma → loss of colour vision → rapid onset of significant visual impairment
MELAS syndrome: mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
MERRF syndrome: myoclonus epilepsy with ragged-red fibres
Kearns-Sayre syndrome: onset in patients < 20 years old, external ophthalmoplegia, retinitis pigmentosa. Ptosis may be seen
Deficiency of alpha galactosidase causes? What is it’s inheritance? Features
Fabry disease, x linked recessive, acroparaesthesia, gi symptoms, angiokeratoma, anhidrosis
Common congenital infection features
Congenital toxoplasmosis - Eyes, brain
Congenital rubella - Eyes, ears, heart
Congenital CMV - Ears, rash
Troponin subunits binding site?
troponin C: binds to calcium ions
troponin T: binds to tropomyosin, forming a troponin-tropomyosin complex
troponin I: binds to actin to hold the troponin-tropomyosin complex in place
DiGeorge syndrome features?
CATCH22’ - cardiac abnormalities, abnormal facies, thymic aplasia, cleft palate, hypocalcaemia/hypoparathyroidism and chromosome 22 deletion.
T cell deficient
diseases associated with type of collagen
Type I: BONE - Osteogenesis Imperfecta
Type II: carTWOlage - Chondrodysplasia
Type III: ArTHREE (Artery) - Vascular type EDS
Type IV: Under the floor (basement membrane) - Alport Syndrome, Goodpasture syndrome
Type 5 - Classic Ehlers Danlos Syndome
Polychromasia in blood pictures
reticulocytes
