ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica
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Yearbook of Paediatric Endocrinology 2020

2. Antenatal and Neonatal Endocrinology

Neonatal Diabetes Mellitus

Previous section
Neonatal Hypoglycaemia
Table of contents
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Updates on the Genetics of Neonatal Diabetes Mellitus, Congenital Hyperinsulinism and Glucose Disorders

ey0017.2-6 | Neonatal Diabetes Mellitus | ESPEYB17

2.6. Intellectual disability in KATP channel neonatal diabetes

P Svalastoga , A Sulen , JR Fehn , SM Aukland , H Irgens , E Sirnes , SKE Fevang , E Valen , IB Elgen , PR Njolstad

To read the full abstract: Diabetes Care. 2020 Mar;43(3):526–533. doi: 10.2337/dc19-1013. Epub 2020 Jan 13. PMID:31932458Neonatal diabetes mellitus (NDM) is defined as diabetes that develops in the first 6 months of age. In Western countries, the most common causes of NDM are activating mutations in the KCNJ11/ABCC8 genes. Neurological dysfunction is also common (up to 30%) in pati...
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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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ey0017.2-8 | Neonatal Diabetes Mellitus | ESPEYB17

2.8. Patterns of post-meal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-KATP-channel pathways

P Bowman , TJ McDonald , BA Knight , SE Flanagan , M Leveridge , SR Spaull , BM Shields , S Hammersley , MH Shepherd , RC Andrews , KA Patel , AT Hattersley

To read the full abstract: BMJ Open Diabetes Research and Care2019; 7:e000721. PMID: 31908791Understanding of the molecular mechanisms underlying neonatal diabetes mellitus (NDM) has helped to transform the clinical management of some patients. Those with NDM due to mutations in the KCNJ11/ABCC8 genes can now be switched to oral sulphonylurea treatment and their daily insu...
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ey0017.2-9 | Neonatal Diabetes Mellitus | ESPEYB17

2.9. Long-term metabolic and socio educational outcomes of transient neonatal diabetes: A longitudinal and cross-sectional study

F Le Bourgeois , Baz B Beltrand J , Riveline JP Julla JB , A Simon , I Flechtner , M Ait Djoudi , AL Fauret-Amsellem , Y Vial , R Scharfmann , J Sommet , P Boudou , H Cave , M Polak , JF Gautier , KTNDM Long-Term Follow-Up Study Group Busiah

To read the full abstract: Diabetes Care. 2020 Apr 9. pii: dc190324. doi: 10.2337/dc19-0324. [Epub ahead of print]. PMID: 32273272TransientNeonatalDiabetes (TNDM) develops in the first six months of life, and then remits only to relapse again during adolescence and adulthood. The three main genetic causes of TNDM are: 1) 6q24 abnormalities, 2) activating mutations in genes encoding the ATP-sensi...
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ey0017.2-10 | Neonatal Diabetes Mellitus | ESPEYB17

2.10. The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the State of Qatar

S Al-Khawaga , I Mohammed , S Saraswathi , B Haris , R Hasnah , A Saeed , H Almabrazi , N Syed , P Jithesh , A El Awwa , A Khalifa , F AlKhalaf , G Petrovski , EM Abdelalim , K Hussain

To read the full abstract: Mol Genet Genomic Med., 2019 Oct;7(10):e00753. doi: 10.1002/mgg3.753. Epub 2019 Aug 23. PMID: 31441606The unique population in the State of Qatar comprises over 2.6 million people who derived primarily from the Middle East and North Africa (MENA) and South Asia regions. Around 15% are indigenous Qataris of Arabian Peninsula ancestries, who have also immigrated to the St...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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