Neonatal Screening
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
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| what are the main principles of a good screeing test | simple, safe, precise, naormal range of results understood, acceptable to carry out, agreed policy for management of results
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| what is sensitivity of testing | ability to detect +ve results
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| what is specificity of testing | ability to identifying -ve results
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| what is PKU | a deficiency of penylalinine hydroxylase
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| what effect does PKU | phenylalinine is deposited in body tissue affecting brain development
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| what prognosis does PKU have | if detected, normal, if undetected sever learing difficulties
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| what is cystic fibrosis | faulty gene controlling movement of salt causing increased mucous
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| what are some of symptoms of CF | failure to thrive, weightloss, malnutrition
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| what is the treatment for CF | physio to move mucus, antibiotics for infection, pancreatic enzyme replacement therapy, bronchodilators and steroids
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| what are some causes of hearing loss | los of conductive hairs, malfoprmation of ossicles or ear canal, inner ear or neural problems, acquired through infection
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| what does MCADD stand for | Medium Chain Acyl co-enzyme A Dehydrogenase Deficiency
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| what can MCADD result in | coma and sudden death through infection or fasting
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| what is the management for MCADD | avoid fasting, maintain glucose intake during infection
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| what is the half life of a RBC from someone suffering from sickle cell desease | 17days
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| what is tay sachs disease | absence of enzyme hexosaminidase A
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| what is the consequence of tay sachs disease | build up of lipid ganglioside affecting nerve cells in the brain
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| what is the prognosis of tay sachs disease | poor, leads to early death in childhood
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Created by:
KerriPatton
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