ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 16 results

ey0018.2-12 | Neonatal diabetes mellitus | ESPEYB18

2.12. Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene

I Akerman , MA Maestro , E De Franco , V Grau , S Flanagan , J Garcia-Hurtado , G Mittler , P Ravassard , L Piemonti , S Ellard , AT Hattersley , J Ferrer

Cell Rep. 2021 Apr 13;35(2):108981. doi: 10.1016/j.celrep.2021.108981. PMID: 33852861.Mutations in the promotor region of the insulin gene are associated with a subtype of neonatal diabetes mellitus (NDM). These mutations lead to abnormal transcription of the insulin gene and do so by deleting the C1 and E1 cis regulatory elements, or three different single base-pair substitutions in ...
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ey0016.2-6 | Neonatal Diabetes Mellitus | ESPEYB16

2.6. Trisomy 21 is a cause of permanent neonatal diabetes that is autoimmune but not HLA associated

MB Johnson , E De Franco , W Atma , S Greeley , LR Letourneau , K Gillespie , International DS-PNDM consortium , MN Wakeling , S Ellard , SE Flanagan , KA Patel , AT Hattersley

To read the full abstract: Diabetes. 2019 Apr 8. pii: db190045. doi: 10.2337/db19-0045.This study assessed the incidence of permanent neonatal diabetes mellitus (PNDM) in patients with Trisomy 21.Patients with Trisomy 21 have an increased prevalence of autoimmune conditions, such as Type 1 diabetes, celiac disease, alopecia, vitiligo and autoimmune thyroid disorder...
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ey0015.2-5 | Atypical forms of congenital hyperinsulinism are associated with increased expression of the transcription factor NKX2.2 and increased numbers of somatostain secreting cells | ESPEYB15

Atypical forms of congenital hyperinsulinism are associated with increased expression of the transcription factor NKX2.2 and increased numbers of somatostain secreting cells

B Han , Z Mohamed , MS Estebanez , RJ Craigie , M Newbould , E Cheesman , R Padidela , M Skae , M Johnson , S Flanagan , S Ellard , KE Cosgrove , I Banerjee , MJ Dunne

To read the full abstract: J Clin Endocrinol Metab. 2017 Sep 1;102(9):3261-3267At a histological level congenital hyperinsulinism (CHI) is classified into three forms, namely diffuse, focal and atypical. The atypical forms display histological mosacism (heterogeneous populations of islets, which appear to be resting or quiescent and localized to particular domains/lobes of the pancreas) but the m...
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ey0018.2-8 | Neonatal diabetes mellitus | ESPEYB18

2.8. Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.

P Bowman , F Mathews , F Barbetti , MH Shepherd , J Sanchez , B Piccini , J Beltrand , LR Letourneau-Freiberg , M Polak , SAW Greeley , E Rawlins , T Babiker , NJ Thomas , E De Franco , S Ellard , SE Flanagan , AT Hattersley , Neonatal Diabetes International Collaborative Group

Diabetes Care. 2021 Jan;44(1):35–42. doi: 10.2337/dc20-1520. PMID: 33184150.The key findings from this cohort of patients with ABCC8 neonatal diabetes mellitus (NDM) are: A) good glycaemic control is maintained over the long-term without any serious adverse events (including severe hypoglycaemia) despite high doses of sulphonylurea, B) some patients show improvements in neurologica...
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ey0018.10-8 | (1) | ESPEYB18

10.8. Absence of islet autoantibodies and modestly raised glucose values at diabetes diagnosis should Lead to testing for MODY: lessons from a 5-year pediatric Swedish National Cohort study

A Carlsson , M Shepherd , S Ellard , M Weedon , A Lernmark , G Forsander , K Colclough , Q Brahimi , C Valtonen-Andre , SA Ivarsson , H Elding Larsson , U Samuelsson , E Ortqvist , L Groop , J Ludvigsson , C Marcus , AT Hattersley

Diabetes Care. 2020; 43:82–89. doi: 10.2337/dc19-0747.It is often difficult to identify maturity-onset diabetes of the young (MODY) in pediatric patients close to diabetes onset. Hence, misdiagnosis and unnecessary insulin treatment are still common.This study reports the discriminatory clinical features at diabetes onset in Swedish pediatric patients (age 1–18 y...
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ey0018.10-13 | (1) | ESPEYB18

10.13. Type 1 diabetes can present before the age of 6 months and is characterized by autoimmunity and rapid loss of beta cells

MB Johnson , KA Patel , E De Franco , W Hagopian , M Killian , TJ McDonald , TIM Tree , C Domingo-Vila , M Hudson , S Hammersley , R; EXE-T1D Consortium Dobbs , S Ellard , SE Flanagan , AT Hattersley , RA Oram

Diabetologia. 2020;63(12):2605–2615. doi: 10.1007/s00125-020-05276-4.Diabetes diagnosed at <6 months of age is often of monogenic origin. However, 10-15% of affected infants do not have a pathogenic variant in one of the 26 known neonatal diabetes genes. In this study, 166 infants diagnosed at <6 months of age without such pathogenic variants showed all the the classic feat...
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ey0017.2-7 | Neonatal Diabetes Mellitus | ESPEYB17

2.7. De novo mutations in EIF2B1 affecting eif2 signaling cause neonatal/early-onset diabetes and transient hepatic dysfunction

E De Franco , R Caswell , MB Johnson , MN Wakeling , A Zung , VC Dung , CT Bich Ngoc , R Goonetilleke , M Vivanco Jury , M El-Khateeb , S Ellard , SE Flanagan , D Ron , AT Hattersley

To read the full abstract: Diabetes. 2020 Mar;69(3):477–483. doi: 10.2337/db19-1029. Epub 2019 Dec 27. PMID: 31882561Endoplasmic recticulum (ER) stress plays an important role in the etiology of several forms of diabetes mellitus. There is evidence that ER stress plays a role in both type 1 and type 2 diabetes. More importantly molecular defects in the ER stress pathway are linked to monoge...
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ey0015.2-12 | Neonatal diabetes with autoimmunity can be associated with LRBA Mutations | ESPEYB15

Neonatal diabetes with autoimmunity can be associated with LRBA Mutations

MB Johnson , E De Franco , H Lango Allen , A Al Senani , N Elbarbary , Z Siklar , M Berberoglu , Z Imane , A Haghighi , Z Razavi , I Ullah , Alyaarubi , D Gardner , S Ellard , AT Hattersley , SE Flanagan

To read the full abstract: Diabetes 2017 Aug;66(8):2316-2322Biallelic mutations in the human lipopolysaccharide responsive beige-like anchor (LRBA) gene lead to a primary immunodeficiency known as LRBA deficiency, characterized early-onset hypogammaglobulinemia, severe autoimmune manifestations, enteropathy, lymphoproliferation, and recurrent respiratory tract infections. Neonatal diabetes mellitus (...
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ey0019.1-5 | Genetics | ESPEYB19

1.5. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

A Schanzer , MT Achleitner , D Trumbach , L Hubert , A Munnich , B Ahlemeyer , MM AlAbdulrahim , PA Greif , S Vosberg , B Hummer , RG Feichtinger , JA Mayr , SB Wortmann , H Aichner , S Rudnik-Schoneborn , A Ruiz , E Gabau , JP Sanchez , S Ellard , T Homfray , KL Stals , W Wurst , BA Neubauer , T Acker , SK Bohlander , C Asensio , C Besmond , FS Alkuraya , MD AlSayed , A Hahn , A Weber

Ann Neurol. 2021 Jul;90(1):143-158. doi: 10.1002/ana.26127. PMID: 33999436.Brief Summary: This study identifies biallelic HID1 variants in 7 patients with hypopituitarism and infantile encephalopathy. It provides genetic and functional evidence for a novel gene-disease connection and expands the list of central nervous system diseases caused by impairment of the trans-Golgi network.<p ...
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ey0017.2-11 | Updates on the Genetics of Neonatal Diabetes Mellitus, Congenital Hyperinsulinism and Glucose Disorders | ESPEYB17

2.11. Update of variants identified in the pancreatic [beta]-cell KATPchannel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

E De Franco , C Saint-Martin , K Brusgaard , AE Knight Johnson , L Aguilar-Bryan , P Bowman , JB Arnoux , AR Larsen , S May , Saw Greeley , R Calzada-Leon , B Harman , JAL Houghton , Nishimura-Meguro , TW Laver , S Ellard , D Del Gaudio , HT Christesen , C Bellanne-Chantelot , SE Flanagan

To read the full abstract: Hum Mutat. 2020 May;41(5):884–905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. PMID: 32027066Pancreatic KATPchannels play a key role in regulating insulin secretion. These channels are composed of four subunits of SUR1 and four subunits of KIR6.2 encoded by the ABCC8 and KNCJ11 genes, respectively. Inactivating mutations in these two g...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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