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Neonatal Screening

QuestionAnswer
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
what is sensitivity of testing ability to detect +ve results
what is specificity of testing ability to identifying -ve results
what is PKU a deficiency of penylalinine hydroxylase
what effect does PKU phenylalinine is deposited in body tissue affecting brain development
what prognosis does PKU have if detected, normal, if undetected sever learing difficulties
what is cystic fibrosis faulty gene controlling movement of salt causing increased mucous
what are some of symptoms of CF failure to thrive, weightloss, malnutrition
what is the treatment for CF physio to move mucus, antibiotics for infection, pancreatic enzyme replacement therapy, bronchodilators and steroids
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
what does MCADD stand for Medium Chain Acyl co-enzyme A Dehydrogenase Deficiency
what can MCADD result in coma and sudden death through infection or fasting
what is the management for MCADD avoid fasting, maintain glucose intake during infection
what is the half life of a RBC from someone suffering from sickle cell desease 17days
what is tay sachs disease absence of enzyme hexosaminidase A
what is the consequence of tay sachs disease build up of lipid ganglioside affecting nerve cells in the brain
what is the prognosis of tay sachs disease poor, leads to early death in childhood
Created by: KerriPatton
 

 



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