HTHSCI 1DT3 Lecture Notes - Lecture 8: Abdominal Pain, Fatty Liver, Pharyngeal Reflex
13 Aug 2020
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Mod. 2-2 & 1-13, 14 cystic fibrosis (cf) 6. Not enough pancreatic enzymes to digest food. But have intermediate group from 30 to 60. Congenital absence of vas deferens (cavd): unilateral (cuavd) or bilateral (cbavd) Male reproductive organ, the vas deferens, fails to form properly prior to birth. It connects the sperm- producing testicles to the penis. With missing vas deferens, these males are able to create sperm (fertile) but unable to transport them appropriately. This is due to a mutation in the cftr gene: other diagnostic tests, cftr genotyping. These babies were born before screening was widespread. Hence, need to do genotyping but difficult to rule out diagnosis: stool elastase. A medical test that measures how well the pancreas is functioning as it measures the concentration of the enzyme. Helpful only for pancreatic insufficiency cases: nasal potential difference (npd) for difficult diagnosis.
