diseases 2 Flashcards
how are point mutations diagnosed
next generation sequencing
how are chromosomal translocations, deletions, microdeletions and deletion of part of a gene diagnosed
aCGH
what are prader willi and di George syndrome caused by
microdeletions
what type of vaccine is mengiococcal, pneumococcal and HiB
polysaccharide
which vaccines are inactivated
polio and pertussis
what is MELAS
inherited via mitochondirla DNA in variable expression
what is the rooting reflex
assists in breastfeeding
newborn will turn its head towards anything that strokes its cheek or mouth
ORS what is it and how does it work
relies on the sodium glucose co transport system
active transport of sodium results in an osmotic pull for water
can be easily made using a combo of salt sugar and water
absorbed in the jejunum
what tests are done in newborn screening
congenital hypothyroidism, cystic fibrosis, sickle cell disease, deafness, medium chian acyl-CoA dehydrogenase deficiency, cystic fibrosis, phenylketonuria
age at which they use sounds discriminately eg dada mama
around 10 months
at what age does a baby startle to loud Moises
newborn
what age should kids take a vitamin D supplement from
all infants and young people aged 6 months to 5 years should take a daily supplement containing vitamin D in the form of vitamin drops
what is a barton fracture
intra articular fracture of distal radius where carpal bones sublux
what is phenylketonuria a result from
inability to breakdown phenylalanine
how is phenylketonuria inherited
autosomal recessive