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Page 1
Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey.
Denkboy Öngen Y, Eren E, Demirbaş Ö, Sobu E, Ellard S, De Franco E, Tarım Ö. Denkboy Öngen Y, et al. J Clin Res Pediatr Endocrinol. 2021 Feb 26;13(1):80-87. doi: 10.4274/jcrpe.galenos.2020.2020.0093. Epub 2020 Aug 21. J Clin Res Pediatr Endocrinol. 2021. PMID: 32820876 Free PMC article.
CONCLUSION: Although NDM is defined as diabetes diagnosed during the first six months of life, and a diagnosis of type 1 diabetes is more common between the ages of 6 and 24 months, in rare cases NDM may present as late as 12 or even 24 months of age. ...
CONCLUSION: Although NDM is defined as diabetes diagnosed during the first six months of life, and a diagnosis of type 1 diabetes is …
Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.
Bonfanti R, Iafusco D, Rabbone I, Diedenhofen G, Bizzarri C, Patera PI, Reinstadler P, Costantino F, Calcaterra V, Iughetti L, Savastio S, Favia A, Cardella F, Lo Presti D, Girtler Y, Rabbiosi S, D'Annunzio G, Zanfardino A, Piscopo A, Casaburo F, Pintomalli L, Russo L, Grasso V, Minuto N, Mucciolo M, Novelli A, Marucci A, Piccini B, Toni S, Silvestri F, Carrera P, Rigamonti A, Frontino G, Trada M, Tinti D, Delvecchio M, Rapini N, Schiaffini R, Mammì C, Barbetti F; Diabetes Study Group of ISPED. Bonfanti R, et al. Eur J Endocrinol. 2021 Apr;184(4):575-585. doi: 10.1530/EJE-20-1030. Eur J Endocrinol. 2021. PMID: 33606663
Median age at diabetes onset and birth weight were lower in patients with 6q24 (1 week; -2.27 SD) than those with KATP mutations (4.0 weeks; -1.04 SD) (P = 0.009 and P = 0.007, respectively). ...Two KATP/TNDM patients entered diabetes remission without pharmacologic …
Median age at diabetes onset and birth weight were lower in patients with 6q24 (1 week; -2.27 SD) than those with KATP mutations (4.0 …
Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants.
Rubio-Cabezas O, Klupa T, Malecki MT; CEED3 Consortium. Rubio-Cabezas O, et al. Eur J Clin Invest. 2011 Mar;41(3):323-33. doi: 10.1111/j.1365-2362.2010.02409.x. Epub 2010 Nov 4. Eur J Clin Invest. 2011. PMID: 21054355 Review.
RESULTS: Over the last decade, mutations in about a dozen of genes have been linked to the development of Permanent Neonatal Diabetes Mellitus (PNDM). The most frequent causes of PNDM are heterozygous mutations in the KCNJ11, INS and ABCC8 genes. ...CO …
RESULTS: Over the last decade, mutations in about a dozen of genes have been linked to the development of Permanent Neonatal …
Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K(ATP)-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital.
Ngoc CTB, Dien TM, De Franco E, Ellard S, Houghton JAL, Lan NN, Thao BP, Khanh NN, Flanagan SE, Craig ME, Dung VC. Ngoc CTB, et al. Front Endocrinol (Lausanne). 2021 Sep 9;12:727083. doi: 10.3389/fendo.2021.727083. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34566892 Free PMC article.
At diagnosis, clinical and biochemical findings (mean SD) were pH 7.16 0.16; HCO3- , 7.9 7.4 mmol/L; BE, -17.9 9.1 mmol/L; HbA1C, 7.98% 2.93%; blood glucose, 36.2 12.3 mmol/L; and C-peptide median, 0.09 (range, 0-1.61 nmol/l). Twenty-six patients were successfully t …
At diagnosis, clinical and biochemical findings (mean SD) were pH 7.16 0.16; HCO3- , 7.9 7.4 mmol/L; BE, -17.9 9.1 mmol/L; HbA1C, 7.9 …
Genotype-phenotype correlation of K(ATP) channel gene defects causing permanent neonatal diabetes in Indian patients.
Gopi S, Kavitha B, Kanthimathi S, Kannan A, Kumar R, Joshi R, Kanodia S, Arya AD, Pendsey S, Pendsey S, Raghupathy P, Mohan V, Radha V. Gopi S, et al. Pediatr Diabetes. 2021 Feb;22(1):82-92. doi: 10.1111/pedi.13109. Epub 2020 Sep 15. Pediatr Diabetes. 2021. PMID: 32893419
Activating or gain of function mutations of K(ATP) channel genes namely KCNJ11 and ABCC8 are most predominant cause of permanent neonatal diabetes mellitus (PNDM). OBJECTIVES: To identify the genotype-phenotype correlation of K(ATP) channel gene defect …
Activating or gain of function mutations of K(ATP) channel genes namely KCNJ11 and ABCC8 are most predominant cause of permanent n …
Diagnosis and treatment of neonatal diabetes: a United States experience.
Støy J, Greeley SA, Paz VP, Ye H, Pastore AN, Skowron KB, Lipton RB, Cogen FR, Bell GI, Philipson LH; United States Neonatal Diabetes Working Group. Støy J, et al. Pediatr Diabetes. 2008 Oct;9(5):450-9. doi: 10.1111/j.1399-5448.2008.00433.x. Epub 2008 Jul 25. Pediatr Diabetes. 2008. PMID: 18662362 Free PMC article.
BACKGROUND/OBJECTIVE: Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus in about 50% of patients diagnosed with diabetes before 6 months of age and in a small fraction of those diagnosed between 6 and 12 months. T …
BACKGROUND/OBJECTIVE: Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus i …
Monogenic diabetes prevalence among Polish children-Summary of 11 years-long nationwide genetic screening program.
Małachowska B, Borowiec M, Antosik K, Michalak A, Baranowska-Jaźwiecka A, Deja G, Jarosz-Chobot P, Brandt A, Myśliwiec M, Stelmach M, Nazim J, Peczyńska J, Głowińska-Olszewska B, Horodnicka-Józwa A, Walczak M, Małecki MT, Zmysłowska A, Szadkowska A, Fendler W, Młynarski W. Małachowska B, et al. Pediatr Diabetes. 2018 Feb;19(1):53-58. doi: 10.1111/pedi.12532. Epub 2017 Apr 24. Pediatr Diabetes. 2018. PMID: 28436179
SUBJECTS: Patients and their family members suspected of suffering from MD (defined as causative mutation in one of the Maturity Onset Diabetes of the Young or permanent neonatal diabetes mellitus genes) were recruited between January 2005 and December …
SUBJECTS: Patients and their family members suspected of suffering from MD (defined as causative mutation in one of the Maturity Onset Diabe …
Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study.
Kanakatti Shankar R, Pihoker C, Dolan LM, Standiford D, Badaru A, Dabelea D, Rodriguez B, Black MH, Imperatore G, Hattersley A, Ellard S, Gilliam LK; SEARCH for Diabetes in Youth Study Group. Kanakatti Shankar R, et al. Pediatr Diabetes. 2013 May;14(3):174-80. doi: 10.1111/pedi.12003. Epub 2012 Oct 10. Pediatr Diabetes. 2013. PMID: 23050777 Free PMC article.
BACKGROUND: Neonatal diabetes mellitus (NDM) is defined as diabetes with onset before 6 months of age. Nearly half of individuals with NDM are affected by permanent neonatal diabetes mellitus (PNDM). Mutations in KATP channel genes (KCNJ11, ABCC8) and …
BACKGROUND: Neonatal diabetes mellitus (NDM) is defined as diabetes with onset before 6 months of age. Nearly half of individuals with NDM a …
A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Children With Neonatal Diabetes.
Abbasi F, Habibi M, Enayati S, Bitarafan F, Razzaghy-Azar M, Sotodeh A, Omran SP, Maroofian R, Amoli MM. Abbasi F, et al. Can J Diabetes. 2018 Jun;42(3):272-275. doi: 10.1016/j.jcjd.2017.06.009. Epub 2017 Aug 23. Can J Diabetes. 2018. PMID: 28843469
OBJECTIVE: Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (PNDM) associated with skeletal dysplasia, growth retardation and liver dysfunction. ...
OBJECTIVE: Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal …
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
Alkorta-Aranburu G, Carmody D, Cheng YW, Nelakuditi V, Ma L, Dickens JT, Das S, Greeley SAW, Del Gaudio D. Alkorta-Aranburu G, et al. Mol Genet Metab. 2014 Dec;113(4):315-320. doi: 10.1016/j.ymgme.2014.09.007. Epub 2014 Sep 28. Mol Genet Metab. 2014. PMID: 25306193 Free PMC article.
Single gene mutations that primarily affect pancreatic beta-cell function account for approximately 1-2% of all cases of diabetes. Overlapping clinical features with common forms of diabetes makes diagnosis of monogenic diabetes challenging. ...We thus developed a targeted …
Single gene mutations that primarily affect pancreatic beta-cell function account for approximately 1-2% of all cases of diabetes. Ov …
12 results