diseases 2 Flashcards

1
Q

how are point mutations diagnosed

A

next generation sequencing

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2
Q

how are chromosomal translocations, deletions, microdeletions and deletion of part of a gene diagnosed

A

aCGH

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3
Q

what are prader willi and di George syndrome caused by

A

microdeletions

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4
Q

what type of vaccine is mengiococcal, pneumococcal and HiB

A

polysaccharide

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5
Q

which vaccines are inactivated

A

polio and pertussis

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6
Q

what is MELAS

A

inherited via mitochondirla DNA in variable expression

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7
Q

what is the rooting reflex

A

assists in breastfeeding

newborn will turn its head towards anything that strokes its cheek or mouth

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8
Q

ORS what is it and how does it work

A

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

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9
Q

what tests are done in newborn screening

A

congenital hypothyroidism, cystic fibrosis, sickle cell disease, deafness, medium chian acyl-CoA dehydrogenase deficiency, cystic fibrosis, phenylketonuria

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10
Q

age at which they use sounds discriminately eg dada mama

A

around 10 months

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11
Q

at what age does a baby startle to loud Moises

A

newborn

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12
Q

what age should kids take a vitamin D supplement from

A

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

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13
Q

what is a barton fracture

A

intra articular fracture of distal radius where carpal bones sublux

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14
Q

what is phenylketonuria a result from

A

inability to breakdown phenylalanine

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15
Q

how is phenylketonuria inherited

A

autosomal recessive

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16
Q

what are some of the features of treacher Collins syndrome

A

micrognathia (unusually small upper or lower jaw)
conductive hearing loss
underdeveloped zygomas

17
Q

features of Edwards syndrome

A
downward slanting eyes
micrognathia( unusually small upper or lower jaw) 
low set ears
rocker bottom feet 
overlapping of fingers
18
Q

what type of sensitivity reaction is scapies

A

type IV

19
Q

Edward syndrome and treacher Collins can sometimes present quite similiarly what could you look for to differentiate

A

family history, treacher Collins is inherited autosomal dominant so likely to be a family history