ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 4 of about 1557 results

ey0018.2-11 | Neonatal diabetes mellitus | ESPEYB18

2.11. YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

E De Franco , M Lytrivi , H Ibrahim , H Montaser , MN Wakeling , F Fantuzzi , K Patel , C Demarez , Y Cai , M Igoillo-Esteve , C Cosentino , V Lithovius , H Vihinen , E Jokitalo , TW Laver , MB Johnson , T Sawatani , H Shakeri , N Pachera , B Haliloglu , MN Ozbek , E Unal , R Yıldırım , T Godbole , M Yildiz , B Aydin , A Bilheu , I Suzuki , SE Flanagan , P Vanderhaeghen , V Senee , C Julier , P Marchetti , DL Eizirik , S Ellard , J Saarimaki-Vire , T Otonkoski , M Cnop , AT Hattersley

J Clin Invest. 2020 Dec 1;130(12):6338–6353. doi: 10.1172/JCI141455. PMID: 33164986.This manuscript describes a novel disorder due to homozygous mutations in the YIPF5 gene which cause a complex syndrome of neonatal/early onset diabetes mellitus, epilepsy and microcephaly. The underlying mechanism of the diabetes involves the accumulation of proinsulin (unable to be transported to the Golgi...
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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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ey0018.2-13 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB18

2.13. Predictors of neonatal adiposity and associations by fetal sex in women with gestational diabetes mellitus and normal glucose-tolerant women

K Benhalima , A De Landtsheer , P Van Crombrugge , C Moyson , J Verhaeghe , H Verlaenen , C Vercammen , T Maes , E Dufraimont , C De Block , Y Jacquemyn , A Laenen , R Devlieger , C Minschart , C Mathieu

Acta Diabetol. 2021 Mar;58(3):341–354. doi: 10.1007/s00592-020-01619-0. PMID: 33216207.The key findings of this multi-centre prospective cohort study were that neonates born to mothers treated for Gestational diabetes mellitus (GDM) (by lifestyle or medication, e.g. insulin or metformin) had high rates of macrosomia but similar adiposity to those born of mothers with normal glucose...
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ey0018.2-14 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB18

2.14. Early diagnosed gestational diabetes mellitus is associated with adverse pregnancy outcomes: A prospective cohort study

B Liu , J Cai , Y Xu , Y Long , L Deng , S Lin , J Zhang , J Yang , L Zhong , Y Luo , Y Zhou , Y Zhang , Z Li , H Chen , Z Wang

J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa633. doi: 10.1210/clinem/dgaa633. PMID: 32898218.In this study, low risk pregnant women had an ‘early’ OGTT at 18-20 weeks of gestation and these results were correlated with the standard OGTT at 24-28 weeks. Pregnant women with Gestational diabetes mellitus (GDM) who had early OGTT still had a higher risk of delivering macrosomic in...
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ey0018.2-15 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB18

2.15. Gestational diabetes Is uniquely associated with altered early seeding of the infant gut microbiota

TK Soderborg , CM Carpenter , RC Janssen , TL Weir , CE Robertson , D Ir , BE Young , NF Krebs , TL Hernandez , LA Barbour , DN Frank , M Kroehl , JE Friedman

Front Endocrinol (Lausanne). 2020 Nov 27;11:603021. doi: 10.3389/fendo.2020.603021. PMID: 33329403.This and previous studies have shown that Gestational diabetes mellitus (GDM) alone and maternal obesity/overweight are associated with alterations in the newborn gut microbiota. In this study, there were significant alterations in the newborn gut microbiota species at 2 weeks of age.<p...
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ey0018.2-16 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB18

2.16. Probiotics for preventing gestational diabetes

SJ Davidson , HL Barrett , SA Price , LK Callaway , M Dekker Nitert

Cochrane Database Syst Rev. 2021 Apr 19;4:CD009951. doi: 10.1002/14651858.CD009951.pub3. PMID: 33870484.In summary, this review did not find certain evidence to support the use of probiotics to reduce the risk of GDM. Only 2 studies suggested a possible reduction in the risk of GDM with probiotics. More importantly, and of concern, the review found a high degree of certainty that th...
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ey0018.2-17 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB18

2.17. Altered pancreas remodeling following glucose intolerance in pregnancy in mice

SK Szlapinski , AA Botros , S Donegan , RT King , G Retta , BJ Strutt , DJ Hill

J Endocrinol. 2020 May;245(2):315–326. doi: 10.1530/JOE-20-0012. PMID: 32171178.As it is not possible to study the histology of the pancreas post-partum in humans, this study used a mouse model of mild glucose intolerance to assess the changes in pancreatic islets after post-partum and assess the impact of pro-inflammatory cytokines. Mice with glucose intolerance during pregnancy continue...
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ey0018.2-18 | Maternal Obesity and Long-term Infant Consequences | ESPEYB18

2.18. Maternal obesity interrupts the coordination of the unfolded protein response and heat shock response in the postnatal developing hypothalamus of male offspring in mice

N Chen , Y Zhang , M Wang , X Lin , J Li , J Li , X Xiao

Mol Cell Endocrinol. 2021 May 1;527:111218. doi: 10.1016/j.mce.2021.111218. PMID: 33636254This study used a high fat and high sucrose diet to generate obese mice. The offspring of these mice showed activation of the unfolding protein response and the heat-shock response in the hypothalamus as early as weaning. This was associated with malformed paraventricular nucleus axonal projections ...
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ey0018.2-19 | Maternal Obesity and Long-term Infant Consequences | ESPEYB18

2.19. Differences of DNA methylation patterns in the placenta of large for gestational age infant

Z Shen , Y Tang , Y Song , W Shen , C Zou

Medicine (Baltimore). 2020 Sep 25;99(39):e22389. doi: 10.1097/MD.0000000000022389. PMID: 32991460.In this relatively small study (6 placenta) the placentas from mothers of infants born large for gestational age (LGA) were compared to placentas of appropriate gestational age (AGA) infants for changes in genome wide DNA methylation. There were significant differences in the specific meth...
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ey0018.2-20 | Maternal Obesity and Long-term Infant Consequences | ESPEYB18

2.20. Maternal obesity influences placental nutrient transport, inflammatory status, and morphology in human term placenta

P Nogues , E Dos Santos , A Couturier-Tarrade , P Berveiller , L Arnould , E Lamy , S Grassin-Delyle , F Vialard , MN Dieudonne

J Clin Endocrinol Metab. 2021 Mar 25;106(4):e1880–e1896. doi: 10.1210/clinem/dgaa660. PMID: 32936881.By studying placentas from normal weight mothers and obese (non-diabetic) mothers, the authors found that maternal obesity was associated with lower expression of nutrient transporters (such as for glucose and amino acids), surprisingly fewer immune cells, and compromised endocrine func...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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