USMLE RX Flashcards
features of trptophan deficiency
also called niacin
- dementia, diarrhoea, dermatitis
(pellagra)
what mode of inheritance is haemochromatosis
autosomal recessive
what mode of inheritance is CF
autosomal recessive
what mode of inheritance is hereditary spherocytosis
autosomal dominant
what mode of inheritance is glucose-6-phosphate dehydrogenase deficiency
x-linked recessive
what vitamin is biotin and when is it found
vitamin B7
excessive ingestion of egg whites, antibiotic use
alcoholic hypoglycaemia results due to an increase in what metabolite ratio
NADH:NAD
increased NADH to the liver inhibits gluconeogenesis
in alcohol intoxication does serum Na go high or low
remains normal
serum osmolality increases with normal Na
presentation of glucose-6-phosphate deficiency
infancy
hepatomegaly
hypoglycaemia
lactic acidosis
(unable to convert G6P to glucose which causes accumulation of glycogen in the liver so results in hypoglycaemia. different from other glycogen storage diseases due to hepatomegaly)
presentation of galactosaemia
infantile cataracts
hepatomegaly
vomiting and jaundice
occurs upon ingestion of formula milk
presentation of alpha-1,6 - glucosidase (cori disease)
hypotonia
wasting
hypoglycaemia
hepatomegaly
elevated CK
primary prevention
i.e. vaccines
preventing onset of a disease
seocndary prevention
i.e. smear tests
early identification of disease before symptom onset
tertiary prevention
treating symptomatic disease
primordial prevention
minimising risk factors that put people at risk of disease
quartenary prevention
prevents over treatment in patients being treated for a disease, to suggest ethically acceptable alternatives
corkscrew spirochete
borellia burgdorferi (lyme disease)
(Ixodes tick)
gram negative bacterium that causes a positive weil felix reaction
rickettssia rickettsi
hapten formation stimulating T cell formation
non-IgE mediated drug reactions
features of hypomagnaesemia
diminished deep tendon reflexes
PR prolongation
associated with CKD
what chromosome is NF found on
22
what pharyngeal arch is the ductus arteriosus derived from
6th