ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 24 of about 353 results

ey0015.2-2 | International consensus on Beckwith-Wiedemann Syndrome | ESPEYB15

International consensus on Beckwith-Wiedemann Syndrome

F Brioude , JM Kalish , A Mussa , AC Foster , J Bliek , GB Ferrero , SE Boonen , T Cole , R Baker , M Bertoletti , G Cocchi , C Coze , M De Pellegrin , K Hussain , A Ibrahim , MD Kilby , M Krajewska-Walasek , CP Kratz , EJ Ladusans , P Lapunzina , Y Le Bouc , SM Maas , F Macdonald , K Õunap , L Peruzzi , S Rossignol , S Russo , C Shipster , A Skórka , Tatton-Brown , J Tenorio , C Tortora , K Grønskov , I Netchine , RC Hennekam , D Prawitt , Z Tümer , T Eggermann , DJG Mackay , A Riccio , ER Maher

To read the full abstract: Nat Rev Endocrinol. 2018 Apr;14(4):229-249Beckwith-Wiedemann syndrome (BWS) is a growth disorder characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplas...
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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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ey0018.5-11 | Translational highlights | ESPEYB18

5.11. Crtap and p3h1 knock out zebrafish support defective collagen chaperoning as the cause of their osteogenesis imperfecta phenotype

Tonelli F , Cotti S , Leoni L , Besio R , Gioia R , Marchese L , Giorgetti S , Villani S , Gistelinck C , Wagener R , Kobbe B , Fiedler I A K , Larionova D , Busse B , Eyre D , Rossi A , Witten P E , Forlino A

Matrix Biol. 2020 Aug;90:40–60 Abstract: https://pubmed.ncbi.nlm.nih.gov/32173581/In brief: Mutations in 3-hydroxylation complex genes CRTAP and P3H1 cause osteogenesis imperfecta type VII and VIII, respectively. However, the pathogenic mechanism by which these mutations cause disease remains unclear. This study points to a defective chaperone role of the 3-h...
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ey0018.8-3 | Important for Clinical Practice | ESPEYB18

8.3. Modified-release hydrocortisone in congenital adrenal hyperplasia

DP Merke , A Mallappa , W Arlt , A Brac de la Perriere , A Linden Hirschberg , A Juul , J Newell-Price , CG Perry , A Prete , DA Rees , N Reisch , N Stikkelbroeck , P Touraine , K Maltby , FP Treasure , J Porter , RJ Ross

J Clin Endocrinol Metab 2021; 106(5): e2063–e2077.https://pubmed.ncbi.nlm.nih.gov/33527139/The authors report the findings of a 6-month, randomized, phase 3 trial, with a single arm extension, to investigate the efficacy, safety and tolerability of modified release hydrocortisone (MC-HC) replacement therapy versus standard glucocorticoid replacement therapy in 122 adult patients with c...
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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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ey0018.12-12 | Metabolic Syndrome | ESPEYB18

12.12. Effect of a high protein/low glycaemic index diet on insulin resistance in adolescents with overweight/obesity - a preview randomized clinical trial

E Dorenbos , M Drummen , T Adam , J Rijks , B Winkens , JA Martinez , S Navas-Carretero , G Stratton , N Swindell , P Stouthart , K Mackintosh , M Mcnarry , A Tremblay , M Fogelholm , A Raben , M Westerterp-Plantenga , A Vreugdenhil

Pediatr Obes. 2021 Jan;16(1):e12702. doi: 10.1111/ijpo.12702. PMID: 32681547.In brief: This randomized parallel trial, conducted in the Netherlands, the United Kingdom and Spain, assessed the impact of a high protein/low glycaemic diet vs. medium protein/medium glycaemic diet in reducing insulin resistance in 126 adolescents with overweight/obesity (mean age 13.6±2.2 years). At 2 ...
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ey0018.15-8 | (1) | ESPEYB18

15.8. Anti-Mullerian hormone levels and risk of type 2 diabetes in women

Verdiesen Renee MG , Onland-Moret N Charlotte , van Gils Carla H , Stellato Rebecca K , Spijkerman Annemieke MW , Picavet H Susan J , Broekmans Frank JM , Verschuren WM Monique , van der Schouw Yvonne T

Diabetologia, 2021; 64, 375–384.https://link.springer.com/article/10.1007/s00125-020-05302-5#Abs1The authors measured plasma anti-Müllerian hormone (AMH) levels over 2x 5-year intervals in a prospective cohort study of 3293 healthy women aged 20–59 years at baseline. Lower baseline age-specific AMH levels were associated with a higher risk of Type 2 di...
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ey0019.3-6 | Congenital hypothyroidism | ESPEYB19

3.6. Cognitive and white matter microstructure development in congenital hypothyroidism and familial thyroid disorders

K Perri , Mori L De , D Tortora , MG Calevo , AEM Allegri , F Napoli , G Patti , D Fava , M Crocco , M Schiavone , E Casalini , M Severino , A Rossi , Iorgi N Di , R Gastaldi , M Maghnie

J Clin Endocrinol Metab. 2021 Sep 27;106(10):e3990-e4006. doi: 10.1210/clinem/dgab412. PMID: 34105732Brief Summary: This observational monocenter study analyzed cognitive scores of children with permanent (n=28, with athyreosis, ectopy or hypoplasia) vs. transient (n=11, with thyroid gland in situ) congenital hypothyroidism (CH) compared to healthy children (‘controls&#1...
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ey0019.3-14 | Paediatric thyroid cancer | ESPEYB19

3.14. Fusion oncogenes are associated with increased metastatic capacity and persistent disease in pediatric thyroid cancers

AT Franco , JC Ricarte-Filho , A Isaza , Z Jones , N Jain , S Mostoufi-Moab , L Surrey , TW Laetsch , MM Li , JC DeHart , E Reichenberger , D Taylor , K Kazahaya , NS Adzick , AJ Bauer

J Clin Oncol. 2022 Apr 1;40(10):1081-1090. doi: 10.1200/JCO.21.01861. Epub 2022 Jan 11. PMID: 35015563Brief Summary: This retrospective monocenter study of clinical, pathological and molecular analysis of n=113 children with differentiated thyroid cancer (DTC) showed that genetic analysis of DTC provided more accurate information on prognosis and outcome than classical histological categorizatio...
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ey0019.5-7 | Advances in clinical practice | ESPEYB19

5.7. Ectopic calcification and hypophosphatemic rickets: natural history of ENPP1 and ABCC6 deficiencies

CR Ferreira , K Kintzinger , ME Hackbarth , U Botschen , Y Nitschke , MZ Mughal , G Baujat , D Schnabel , E Yuen , WA Gahl , RI Gafni , Q Liu , P Huertas , G Khursigara , F Rutsch

J Bone Miner Res. 2021 Nov;36(11):2193-2202Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34355424/In brief: Generalised arterial calcification of infancy (GACI) is clinically and genetically a heterogeneous disorder caused by mutations in ENPP1or ABCC6 variants. This multicentre study identified early mortality risk in GACI patients despite atte...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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