Metabolic disorders

hello everyone,I want to know what is your practice in newborn screening test.when and what diseases you screen? Its routine for each baby or only for high risk newborn.? Sent from my RM-941_im_india_204 using Tapatalk

I am interested to learn more about microdialysis in newborns, for monitoring of subcutaneous glucose monitoring. We have an idea for a research project and would need a good way to monitor glucose homeostasis contineously. Microdialysis would be an option(?). This article here catches well what we want to learn more about: http://www.ncbi.nlm.nih.gov/pubmed/11694701 If you have experience from technologies (commercially available or DIY) and the use if such technologies, please share!

hi for every body... i am asking about your appraoch for the newly born who have an index case with MSUD deceased at 4 days post partum due to severe metabolic encephalopathy and with first degree consanguinity between the parents? what are the appropriate ainvestigation? do u admit the baby for observation in nicu ? till lab tests are out what kind of formula do u start empirically thanks hadi fakih MD RHH hospital lebanon

We are currently reviewing our postnatal guidelines and audited whether applying the latest AAP guidelines about hypoglycaemia screening of newborns at-risk would be feasible for our postnatal ward. One significant finding was that the babies had to be pricked 6 times on average within 24 hours, only to get low blood glucose measurements in about 5-10% of asymptomatic childen. I would be interested in your protocols of screening newborns at-risk of hypoglycaemia (are they less invasive?).

Hi, my friends The first child of one family had organic acidemia. Now the mother is pregnant. what should we do for prevention or diagnosis? regards, Dr. Jahanshahifard

My question to all What do you do when babies get hyperglycemia with normal sugar intake of 4-6mg/kg/minutes. Do you start boluses of Rgular insulin or insulin infusion? If insulin infusion do you monitor sugar according to sliding scale? or how do you titrate insulin infusion. Please share with me your policy?

Dear colleagues, I am a neonatologist who would be grateful for any help from your members. We have a term baby with hyperinsulinism who was treated with diazoxide. A week later the baby developed bowel distension and bile stained vomits: at operation he had necrotising enterocolitis of the large intetines. I would be grateful to know if any of you have similar experiences. kind regards Dr Guan Koh Neonatologist Townsville

We currently have a case of neonatal diabetes on our ward. the baby is getting basal/bolus insulin therapy now. incidence is estimated at 1 in 500.000. anyone of you have any experience with that? We were happy to find this article: http://www.nejm.org/doi/pdf/10.1056/NEJM199509143331105

I want your opinion about the cases of severe hyperbilirubinemia that in need for exchange transfusion In our unit, the policy is to start with double or triple phototherapy with close follow up of the case, then we repeat the serum bilirubin after 2-4 hours .. if there is marked drop (>2mg/dl) we continue on double phototherapy .. if not shift to exchange transfusion. we do that to decrease the risks of exchange transfusion and a trial till the preparation of required blood for exchange. so what is your opinions in that: it is better to start with exchange transfusion immediately or try first phototherapy.

5 wk old infant came to ER with scalp discoloration (grayish) for 2 days. Baby was treated soon after birth for persistent hypoglycemia (in another hospital) and diagnosed as hyperinsulinism. Infant was sent home on po hydrochlorthiazide and diazoxide. Exam showed active, alert baby. Grayish area of discoloration covering most of scalp. No edema. BMP showed Na 133 K 7.8 (heelstick). Rest normal. CBC normal. What is the cause of this discoloration? Can this be acanthosis nigricans though i have never seen it this early in life? What other things should one look for?