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
what is the thyroglossal duct derived from
primitive floor of pharynx
what are the parafollicular C cells derived from
4th pharyngeal arch
what are the thyroid follicular cells derived from
endoderm
what cells degrade histamine and leukotrienes
eosinophils
what type of immune cell localise along blood vessel walls
neutrophils
what cells ingest bacteria in the sequestrial immune response
macrophages
what cells modulate the immune response and develop in the thymus
T cells
what cells release histamine and heparin
basophils
name 3 conditions which are examples of type II hypersensitivity reactions
goodpastures
graves
rheumatic fever
name 2 conditions which are type III hypersensitivity reactions
SLE
polyarteritis nodosa
name 2 conditions which are type IV hypersensitivity reactions
MS
T2DM
genetic defect in myotonic dystrophy
CTG trinucleotide repeat
autosomal dominant
anticipation
presentation of myotonic dystrophy
myopathy
muscle weakness
hypotonia
unable to relax muscles
cataract
immunoglobulins responsible for warm and cold autoimmune haemolytic anaemia
warm IgG (greatly warm)
cold IgM (mega cold)
UTI with causative organisms bile insensitivity and haemolysis
enterococcus
UTI with hydrogen sulphide positive
proteus
salmonella
kidney stones not visible on XR
urate
what layers of the skin are affected in psoriasis
hyperkeratosis of stratnum corneum and hyperplasia of stratnum spinosum
what layer of the skin is affected in lichen planus
hyperkeratosis of stratnum granulosum
what molecule is responsible for transport from prophase to metaphase in the cell cycle
B tubulin
function of topiosomerase in cell cycle
unwinds DNA for replication
function of TP53 in the cell cycle
arrests cell progression from G1 to S phase
function of Rb in cell cycle
arrests cell progression from G1 to S phase
pathophysiology of Galactosaemia
galactose-1-uridyltransferase deficiency (GALT)
leads to accumulation of galactose-1-phosphate and galactitol
derivative of 1st pharyngeal pouch
eustachian tube, middle ear, mastoid air cells
derivative of 2nd pharyngeal pouch
epithelial lining of palatine tonsil
derivative of 3rd pharyngeal pouch
dorsal - inferior parathyroid
ventral - thymus
derivative of 4th pharyngeal pouch
dorsal - superior parathyroid
ventral - parafollicular C cells
antibiotics to avoid in pregnancy
SAFe Children Take Good Care
sulphonamides
aminoglycosides
flouroquinolones
chloramphenicol
tetracyclines
griseofulvan
clindamycin
pathophysiology of gilberts syndrome
reduced UDP glucoronyltransferase resulting in build up of unconjugated bilirubin in times of stress/illnes
pathophysiology of dubin-johnson syndrome
impaired excretion of conjugated bilirubin resulting in conjugated hyperbilirubinaemia
pathophysiology of crigler najjar syndrome
total absent UDP glucoronidyl transferase
presents early in life with jaundic, kernicterus and unconjugated hyperbilirubinaemia
requires liver transplant, phototherapy and plasmophoresis
type II is less severe form and can be treated with phenobarbital which increases liver enzymes
pathophysiology of rotter syndrome
impaired hepatic storage of conjugated bilirubin = elevated conjugated bilirubin levels
phenotypically similar to dubin-johnson but less severe and no black liver
