Matches in SemOpenAlex for { <https://semopenalex.org/work/W2791411792> ?p ?o ?g. }
Showing items 1 to 70 of
70
with 100 items per page.
- W2791411792 abstract "Introduction : we present 2 cases of neonatal diabetes. Mutations in ABCC8 and KCNJ11 genes encoding for the pancreatic KATP channel can lead to transient neonatal diabetes (TNDM) as well as permanent neonatal diabetes (PNDM). KATP channel mutations causing TNDM typically result in diabetes being diagnosed before 6 months of age. Majority of neonatal diabetes patients with KATP channel mutations can be managed with sulphonylureas. Methods : sequence analysis of the ABCC8, KCNJ11, INS and EIF2AK3 genes. Results : case 1: a 9-day old male who presented with jaundice for 3 days and fever for a day. On presentation, baby was febrile, lethargic, with no primitive reflexes. A diagnosis of bilirubin encephalopathy and sepsis was made. On presentation, serum bilirubin was 902 micromil/dl and dropped to 70micromil/dl after 48hours of intensive phototherapy and IV rehydration. On day 3 of admission, infant was noticed to be severely dehydrated although his diapers were soaked with urine. Investigations showed: Random blood sugar 33.1, glucosuria 3+, ketonuria 2+, and enterobacter sepsis. He was managed with insulin infusions and IV antibiotics. By 4th week, baby no longer required insulin, was tolerating full feeds and temperature had settled. Blood sugars have remained within normal range. Sequence analysis of the ABCC8, KCNJ11, INS and EIF2AK3 genes did not identify a pathogenic mutation. Case 2: a 16 week old baby bought to the ER on account of severe weight loss despite good appetite. Random blood sugar on presentation was 33.3mmol/l . Baby was was managed for DKA and discharged home on human premix insulin 30/70 after 2 months of hospital stay. Genetic testing revealed a mutation in the KCNJ11 gene. Baby was switched to glibenclamide, and blood sugars have remained stable. Conclusion : a diagnosis of diabetes before 6 months of age warrants genetic testing to guide treatment decisions." @default.
- W2791411792 created "2018-03-29" @default.
- W2791411792 creator A5027182519 @default.
- W2791411792 creator A5062473152 @default.
- W2791411792 creator A5067818597 @default.
- W2791411792 creator A5077333074 @default.
- W2791411792 creator A5084653587 @default.
- W2791411792 date "2018-01-01" @default.
- W2791411792 modified "2023-09-27" @default.
- W2791411792 title "Neonatal Diabetes: the importance of genetic testing" @default.
- W2791411792 doi "https://doi.org/10.11604/pamj.cp.2017.2.32.66" @default.
- W2791411792 hasPublicationYear "2018" @default.
- W2791411792 type Work @default.
- W2791411792 sameAs 2791411792 @default.
- W2791411792 citedByCount "0" @default.
- W2791411792 crossrefType "journal-article" @default.
- W2791411792 hasAuthorship W2791411792A5027182519 @default.
- W2791411792 hasAuthorship W2791411792A5062473152 @default.
- W2791411792 hasAuthorship W2791411792A5067818597 @default.
- W2791411792 hasAuthorship W2791411792A5077333074 @default.
- W2791411792 hasAuthorship W2791411792A5084653587 @default.
- W2791411792 hasConcept C126322002 @default.
- W2791411792 hasConcept C134018914 @default.
- W2791411792 hasConcept C187212893 @default.
- W2791411792 hasConcept C2778384902 @default.
- W2791411792 hasConcept C2778456037 @default.
- W2791411792 hasConcept C2779306644 @default.
- W2791411792 hasConcept C2779617510 @default.
- W2791411792 hasConcept C2780485761 @default.
- W2791411792 hasConcept C2781283889 @default.
- W2791411792 hasConcept C555293320 @default.
- W2791411792 hasConcept C71924100 @default.
- W2791411792 hasConceptScore W2791411792C126322002 @default.
- W2791411792 hasConceptScore W2791411792C134018914 @default.
- W2791411792 hasConceptScore W2791411792C187212893 @default.
- W2791411792 hasConceptScore W2791411792C2778384902 @default.
- W2791411792 hasConceptScore W2791411792C2778456037 @default.
- W2791411792 hasConceptScore W2791411792C2779306644 @default.
- W2791411792 hasConceptScore W2791411792C2779617510 @default.
- W2791411792 hasConceptScore W2791411792C2780485761 @default.
- W2791411792 hasConceptScore W2791411792C2781283889 @default.
- W2791411792 hasConceptScore W2791411792C555293320 @default.
- W2791411792 hasConceptScore W2791411792C71924100 @default.
- W2791411792 hasLocation W27914117921 @default.
- W2791411792 hasOpenAccess W2791411792 @default.
- W2791411792 hasPrimaryLocation W27914117921 @default.
- W2791411792 hasRelatedWork W1994306165 @default.
- W2791411792 hasRelatedWork W1998222437 @default.
- W2791411792 hasRelatedWork W201794032 @default.
- W2791411792 hasRelatedWork W2033362055 @default.
- W2791411792 hasRelatedWork W2088090464 @default.
- W2791411792 hasRelatedWork W2090300453 @default.
- W2791411792 hasRelatedWork W2093184245 @default.
- W2791411792 hasRelatedWork W2101665959 @default.
- W2791411792 hasRelatedWork W2129272099 @default.
- W2791411792 hasRelatedWork W2141137144 @default.
- W2791411792 hasRelatedWork W2161959405 @default.
- W2791411792 hasRelatedWork W2323215901 @default.
- W2791411792 hasRelatedWork W2332059469 @default.
- W2791411792 hasRelatedWork W2416257310 @default.
- W2791411792 hasRelatedWork W2416299806 @default.
- W2791411792 hasRelatedWork W2903664346 @default.
- W2791411792 hasRelatedWork W2981217517 @default.
- W2791411792 hasRelatedWork W2996906665 @default.
- W2791411792 hasRelatedWork W3153729298 @default.
- W2791411792 hasRelatedWork W41634646 @default.
- W2791411792 isParatext "false" @default.
- W2791411792 isRetracted "false" @default.
- W2791411792 magId "2791411792" @default.
- W2791411792 workType "article" @default.