ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 12 of about 141 results

ey0017.11-9 | Body Weight Regulation and Insulin Sensitivity | ESPEYB17

11.9. Chronic mirabegron treatment increases human brown fat, HDL cholesterol, and insulin sensitivity

AE O’Mara , JW Johnson , JD Linderman , RJ Brychta , S McGehee , LA Fletcher , YA Fink , D Kapuria , TM Cassimatis , N Kelsey , C Cero , ZA Sater , F Piccinini , AS Baskin , BP Leitner , H Cai , CM Millo , W Dieckmann , M Walter , NB Javitt , Y Rotman , PJ Walter , M Ader , RN Bergman , P Herscovitch , KY Chen , AM Cypess

To read the full abstract: J Clin Invest. 2020;130(5):2209–2219. doi: https://pubmed.ncbi.nlm.nih.gov/31961826/This clinical study addressed the chronic effects of the β3-adrenergic receptor agonist mirabegron on BAT activity, blood parameters, and insulin sensitivity in a small cohort of healthy women (n =14). Participants were treated for 4 weeks orally with mirabegron ...
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ey0016.2-2 | Neonatal Hypoglycaemia | ESPEYB16

2.2. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals

KL Yap , AEK Johnson , D Fischer , P Kandikatla , J Deml , V Nelakuditi , S Halbach , GS Jeha , LC Burrage , O Bodamer , VC Benavides , AM Lewis , S Ellard , P Shah , D Cody , A Diaz , A Devarajan , L Truong , SAW Greeley , DD De Leon , AC Edmondson , S Das , P Thornton , D Waggoner , D Del Gaudio

To read the full abstract: Genet Med. 2019 Jan;21(1):233–242.This study documented the clinical features and molecular diagnoses of 9 infants with persistent hyperinsulinism and Kabuki syndrome via a combination of sequencing and copy-number profiling methodologies.KS is characterized by typical facial features (long palpebral fissures with eversion of the lat...
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ey0016.2-10 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB16

2.10. Association of gestational diabetes with maternal disorders of glucose metabolism and childhood adiposity

WL Jr Lowe , DM Scholtens , LP Lowe , A Kuang , M Nodzenski , O Talbot , PM Catalano , B Linder , WJ Brickman , P Clayton , C Deerochanawong , J Hamilton , JL Josefson , M Lashley , JM Lawrence , Y Lebenthal , R Ma , M Maresh , D McCance , WH Tam , DA Sacks , AR Dyer , BE Metzger , Follow-up Study Cooperative Research Group HAPO

JAMA. 2018 Sep 11;320(10):1005–1016. doi: 10.1001/jama.2018.11628.The aims of this study were to assess whether in utero exposure to untreated gestational diabetes (using the IADPSG criteria) is associated with long-term risk of a disorder of glucose metabolism among mothers and greater adiposity among their children at 10 to 14 years post-partum.The Hyperglycem...
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ey0016.3-11 | New Genes | ESPEYB16

3.11. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

H Cangul , XH Liao , E Schoenmakers , J Kero , S Barone , P Srichomkwun , H Iwayama , EG Serra , H Saglam , E Eren , O Tarim , AK Nicholas , I Zvetkova , CA Anderson , FEK Frankl , K Boelaert , M Ojaniemi , J Jaaskelainen , K Patyra , C Lof , ED Williams , Consortium UK10K , M Soleimani , T Barrett , ER Maher , VK Chatterjee , S Refetoff , N Schoenmakers

To read the full abstract: JCI Insight. 2018 Oct 18;3(20). pii: 99631.This paper describes a new form of goitrous congenital hypothyroidism associated with mutations in the solute carrier family 26 member 7 gene (SLC26A7) in 6 unrelated families. In patients, a partial iodide organification defect (PIOD) with normal iodide uptake was observed, hence these mutations cause a new f...
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ey0016.5-5 | New Insight into Rare Skeletal Disorders | ESPEYB16

5.5. Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

M Pekkinen , PA Terhal , LD Botto , P Henning , RE Makitie , P Roschger , A Jain , M Kol , MA Kjellberg , EP Paschalis , K van Gassen , M Murray , P Bayrak-Toydemir , MK Magnusson , J Jans , M Kausar , JC Carey , P Somerharju , UH Lerner , VM Olkkonen , K Klaushofer , JC Holthuis , O Makitie

Abstract: JCI Insight. 2019; Apr 4;4(7).In brief: This study describes a novel autosomal dominant form of primary osteoporosis caused by SGMS2 mutations in six families. A recurrent mutation p.Arg50* led to primary osteoporosis in four families, whereas missense mutations p.Ile62Ser and p.Met64Arg caused a much more severe bone phenotype with spondylometaphyseal d...
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ey0016.5-8 | Clinical Advances in Treatment | ESPEYB16

5.8. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

EA Imel , FH Glorieux , MP Whyte , CF Munns , LM Ward , O Nilsson , JH Simmons , R Padidela , N Namba , HI Cheong , P Pitukcheewanont , E Sochett , W Hogler , K Muroya , H Tanaka , GS Gottesman , A Biggin , F Perwad , M Mao , CY Chen , A Skrinar , J San Martin , AA Portale

Abstract: Lancet. 2019 May 16.In brief: In a randomised, active-controlled, open-label, phase 3 trial, burosumab (an anti-FGF23 antibody) demonstrated significantly greater clinical improvements in rickets severity, growth, and biochemistries among children with X-linked hypophosphataemia compared with continuation of conventional therapy with oral phosphate and active vitamin D ...
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ey0016.14-16 | (1) | ESPEYB16

14.16. Insights into imprinting from parent-of-origin phased methylomes and transcriptomes

F Zink , DN Magnusdottir , OT Magnusson , NJ Walker , TJ Morris , A Sigurdsson , GH Halldorsson , SA Gudjonsson , P Melsted , H Ingimundardottir , S Kristmundsdottir , KF Alexandersson , A Helgadottir , J Gudmundsson , T Rafnar , I Jonsdottir , H Holm , GI Eyjolfsson , O Sigurdardottir , I Olafsson , G Masson , DF Gudbjartsson , U Thorsteinsdottir , BV Halldorsson , SN Stacey , K Stefansson

To read the full abstract: Nat Genet 2018;50:1542–1552The authors analyse whole blood samples collected in participants of the Icelandic deCODE genetics studies in order to distinguish maternal genotype versus paternal genotype effects on gene expression and methylation in blood. The results provide a new map of imprinted methylation and gene expression patterns across the human gen...
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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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ey0015.11-5 | New Developments in Monogenic Obesity | ESPEYB15

11.5 Loss-of-function mutations in ADCY3 cause monogenic severe obesity

S Saeed , A Bonnefond , F Tamanini , MU Mirza , J Manzoor , QM Janjua , SM Din , J Gaitan , A Milochau , E Durand , E Vaillant , A Haseeb , F De Graeve , I Rabearivelo , O Sand , G Queniat , R Boutry , DA Schott , H Ayesha , M Ali , WI Khan , TA Butt , T Rinne , C Stumpel , A Abderrahmani , J Lang , M Arslan , P Froguel

See comment on 11.7...
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ey0015.11-7 | New Developments in Monogenic Obesity | ESPEYB15

11.7 MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency

K Clément , H Biebermann , IS Farooqi , L Van der Ploeg , B Wolters , C Poitou , L Puder , F Fiedorek , K Gottesdiener , G Kleinau , N Heyder , P Scheerer , U Blume-Peytavi , I Jahnke , S Sharma , J Mokrosinski , S Wiegand , A Müller , K Weiß , K Mai , J Spranger , A Grüters , O Blankenstein , H Krude , P Kühnen

To read the full abstract: Nat Med 2018, May;24(5):551-555[Comments on 1.1, 1.5, 1.6 and 1.7] All four here presented articles have monogenic obesity as their theme. While patients with monogenic obesity are rare, these individuals bear a heavy disease burden. Furthermore, these...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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