karate kid biochem qs 1st point - eb222 - Printable Version +- USMLE Forum - Largest USMLE Community (https://www.usmleforum.com) +-- Forum: USMLE Forum (https://www.usmleforum.com/forumdisplay.php?fid=1) +--- Forum: Step 1 (https://www.usmleforum.com/forumdisplay.php?fid=2) +--- Thread: karate kid biochem qs 1st point - eb222 (/showthread.php?tid=227948) Pages:
1
2
|
karate kid biochem qs 1st point - eb222 - ArchivalUser - 10-05-2007 select screening procedure for possible metabolic problem in a new born with severe jaundice and a septicemia like picture, awaitng culture proof; the floor is open 0 - ArchivalUser - 10-05-2007 ADA deficiency? Guessing.. anymore hints 0 - ArchivalUser - 10-05-2007 blood Calcium level? 0 - ArchivalUser - 10-05-2007 why do u think its calcium sali? 0 - ArchivalUser - 10-05-2007 what about Thyroxine level.. 0 - ArchivalUser - 10-05-2007 Galactose -------- G1P ---block here---- UDP Galactose---- UDPglucose----Glycogen intracelullar G1p is toxic to neuron hepatocyte so jaundice leucocytes so septicemia like picture, awaitng culture proof on first exposure to milk the child become ill within a few days with jaundice lethargy vomiting and very often septicemia due to E. coli This phase of the illness is fatal unless treated Strict galactose exclusion from the diet 0 - ArchivalUser - 10-05-2007 no no no. thyroxine is not agood choice. hypothyroidism does not manifest in newborns, its aysmptomatic they start with progressive MR with months pass by 0 - ArchivalUser - 10-05-2007 thanks. nice one.. stirred my neurons.. 0 - ArchivalUser - 10-05-2007 newborn vomits after each feeding of milk-based formula, and does not gain weight. Biochemical testing reveals a severe deficiency of galactose-1-phosphate uridyltransferase, consistent with homozygosity. If this condition goes untreated, what is the likely outcome for this patient? A. Benign disease except for cataract formation B. Chronic emphysema appearing in early adulthood C. Chronic renal failure appearing in adolescence D. Death in infancy E. Gastrointestinal symptoms that remit with puberty dddd 0 - ArchivalUser - 10-05-2007 newborn appears normal at birth, but develops vomiting and diarrhea accompanied by jaundice and hepatomegaly within the first few weeks of life. Within months, the baby has obvious cataracts and ascites. The infant is switched to a milk-free diet, which stabilizes but does not completely reverse his condition. By one year of age, he has developed mental retardation. Which of the following is the most likely diagnosis? A. Cystic fibrosis B. Galactosemia C. McArdle's disease D. Von Gierke's disease E. Wilson's disease bbbbbbbbb |