ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 16 of about 371 results

ey0015.2-9 | MEHMO syndrome is a novel X-linked retardation syndrome associated with neonatal hypoglycaemia, hypopituitarism and early onset diabetes mellitus | ESPEYB15

2.9 EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

M Skopkova , F Hennig , BS Shin , CE Turner , D Stanikova , K Brennerova , J Stanik , U Fischer , L Henden , U Müller , D Steinberger , E Leshinsky-Silver , A Bottani , T Kurdiova , J Ukropec , O Nyitrayova , M Kolnikova , I Klimes , G Borck , M Bahlo , SA Haas , JR Kim , LE Lotspeich-Cole , D Gasperikova , TE Dever , VM Kalscheuer

To read the full abstract: Hum Mutat 2017 Apr;38(4):409-425See Comment under 2.10...
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ey0015.14-10 | CRISPR-Cas9 gene therapy | ESPEYB15

14.10 Correction of a pathogenic gene mutation in human embryos

H Ma , N Marti-Gutierrez , SW Park , J Wu , Y Lee , K Suzuki , A Koski , D Ji , T Hayama , R Ahmed , H Darby , C Van Dyken , Y Li , E Kang , AR Park , D Kim , ST Kim , J Gong , Y Gu , X Xu , D Battaglia , SA Krieg , DM Lee , DH Wu , DP Wolf , SB Heitner , JCI Belmonte , P Amato , JS Kim , S Kaul , S Mitalipov

To read the full abstract: Nature 2017;548:413-419Over recent years, the Yearbook has followed the rapid advances in CRISPR-Cas9 gene editing technology, initially as a widely adopted research tool, but also as an emerging form of gene therapy. Here, Ma et al. report the first use of CRISPR–Cas9 to efficiently and safely correct a pathogenic heterozygous mutation in human embryos. The...
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ey0020.10-12 | Dyslipidemia | ESPEYB20

10.12. Bempedoic acid and cardiovascular outcomes in statin-intolerant patients

SE Nissen , AM Lincoff , D Brennan , KK Ray , D Mason , JJP Kastelein , PD Thompson , P Libby , L Cho , J Plutzky , HE Bays , PM Moriarty , V Menon , DE Grobbee , MJ Louie , CF Chen , N Li , L Bloedon , P Robinson , M Horner , WJ Sasiela , J McCluskey , D Davey , P Fajardo-Campos , P Petrovic , J Fedacko , W Zmuda , Y Lukyanov , SJ Nicholls , CLEAR Outcomes Investigators Nicholls

Brief summary: In this double-blind, randomized, placebo-controlled trial, bempedoic acid (Nexletol) reduced the incidence of a composite cardiovascular.Comment: Bempedoic acid is an ATP citrate lyase inhibitor. ATP citrate lyase catalyses the conversion of citrate to acetyl-CoA, the fundamental substrate required for the synthesis of cholesterol and fatty acids. By inhibiting the cholesterol synthesis pathway, bempedoic acid reduces intra-hepatic LDL-C....
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ey0018.2-9 | Neonatal diabetes mellitus | ESPEYB18

2.9. Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.

R Bonfanti , D Iafusco , I Rabbone , G Diedenhofen , C Bizzarri , PI Patera , P Reinstadler , F Costantino , V Calcaterra , L Iughetti , S Savastio , A Favia , F Cardella , D Lo Presti , Y Girtler , S Rabbiosi , G D'Annunzio , A Zanfardino , A Piscopo , F Casaburo , L Pintomalli , L Russo , V Grasso , N Minuto , M Mucciolo , A Novelli , A Marucci , B Piccini , S Toni , F Silvestri , P Carrera , A Rigamonti , G Frontino , M Trada , D Tinti , M Delvecchio , N Rapini , R Schiaffini , C Mammi , F Barbetti

Eur J Endocrinol. 2021 Apr;184(4):575–585. doi: 10.1530/EJE-20-1030. PMID: 33606663.These authors examined the likelihood of remission of diabetes without pharmacological therapy in a retrospective analysis of 34 Italian patients with Transient neonatal diabetes (TNDM).TNDM is a type of neonatal diabetes that remits within the first a few months of life. It is most ...
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ey0017.11-16 | Consensus Statement | ESPEYB17

11.16. Joint international consensus statement for ending stigma of obesity

F Rubino , RM Puhl , DE Cummings , RH Eckel , DH Ryan , JI Mechanick , J Nadglowski , X Ramos Salas , PR Schauer , D Twenefour , CM Apovian , LJ Aronne , RL Batterham , HR Berthoud , C Boza , L Busetto , D Dicker , M De Groot , D Eisenberg , SW Flint , TT Huang , LM Kaplan , JP Kirwan , J Korner , TK Kyle , B Laferrere , CW le Roux , L McIver , G Mingrone , P Nece , TJ Reid , AM Rogers , M Rosenbaum , RJ Seeley , AJ Torres , JB Dixon

To read the full abstract: Nat Med 2020;26(4):485–497.More than 100 medical and scientific organizations supported this international consensus statement, which describes impressively how unscientific public narratives of obesity cause weight stigma and stimulates discrimination of obese people. Consequently, the statement calls for strong policies and legislation to prevent weight-bas...
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ey0020.9-2 | New Findings in Adipose Tissue | ESPEYB20

9.2. A single-cell atlas of human and mouse white adipose tissue

M Emont , C Jacobs , AL Essene , D Pant , D Tenen , G Colleluori , A Di Vincenzo , AM Jorgensen , H Dashti , A Stefek , E McGonagle , S Strobel , S Laber , S Agrawal , GP Westcott , A Kar , ML Veregge , A Gulko , H Srinivasan , Z Kramer , E De Felippis , E Merkel , J Ducie , CG Boyd , W Gourash , A Courcoulas , SJ Lin , BT Lee , D Morris , A Tobias , AV Khera , M Claussnitzer , TH Pers , A Giodano , O Askenberg , A Regev , LT Tsai , ED Rosen

Brief summary: Emont et al. created a cell atlas of human and mouse white adipose tissue, which goes a long way in informing our understanding of the complexity of adipose tissue.Although adipocytes make up the largest proportion of adipose tissue volume, the cellular structure of adipose tissue is far more complex and includes adipose tissue progenitor cells (APCs), fibroblasts, vascular cells and immune cells. We are also beginning to understa...
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ey0020.12-4 | Genetics | ESPEYB20

12.4. Genetic insights into the social organization of Neanderthals

L Skov , S Peyregne , D Popli , LNM Iasi , T Deviese , V Slon , EI Zavala , M Hajdinjak , AP Sumer , S Grote , A Bossoms Mesa , D Lopez Herraez , B Nickel , S Nagel , J Richter , E Essel , M Gansauge , A Schmidt , P Korlevic , D Comeskey , AP Derevianko , A Kharevich , SV Markin , S Talamo , K Douka , MT Krajcarz , RG Roberts , T Higham , B Viola , AI Krivoshapkin , KA Kolobova , J Kelso , M Meyer , S Paabo , BM Peter

Brief summary: Genomic information (nuclear, Y-chromosome and mitochondrial DNA data) of 13 Neanderthals from two neighboring caves in Siberia have been analysed to infer their social community organization. The data show greater diversity of maternal lineages, which is best explained by female-biased migration between communities.This study is fascinating as it illustrates what information can be gained with genetic data and analysis beyond the medical ...
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ey0018.2-6 | Neonatal hypoglycaemia | ESPEYB18

2.6. Biphasic dynamics of beta cell mass in a mouse model of congenital hyperinsulinism: implications for type 2 diabetes.

S Tornovsky-Babeay , N Weinberg-Corem , R Ben-Haroush Schyr , D Avrahami , J Lavi , E Feleke , KH Kaestner , Y Dor , B Glaser

Diabetologia. 2021 May;64(5):1133-1143. doi: 10.1007/s00125-021-05390-x. PMID: 33558985.In order to gain some insight into the potential mechanism/s of diminished beta cell function over time, this mouse model of CHI was developed with an activating GCK (Glucokinase) mutation. In the short term, the mice developed mild fasting hypoglycaemia (this was very mild with fasting blood glucose...
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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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ey0018.3-6 | Thyroid and pregnancy | ESPEYB18

3.6. Maternal health, in-utero, and perinatal exposures and risk of thyroid cancer in offspring: a Nordic population-based nested case-control study

CM Kitahara , D Slettebo Daltveit , A Ekbom , A Engeland , M Gissler , I Glimelius , T Grotmol , Y Trolle Lagerros , L Madanat-Harjuoja , T Mannisto , HT Sorensen , R Troisi , T Bjorge

Lancet Diabetes Endocrinol. 2021;9:94–105. doi: 10.1016/S2213-8587(20)30399-5.This population based nested case-control study integrated registry data from Denmark, Norway, Sweden and Finland over 40 years to investigate the association of maternal, in-utero, and postnatal factors with thyroid cancer risk in offspring. Each patient with thyroid cancer (cases n=...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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