ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 20 of about 341 results

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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ey0020.7-4 | Gonadal Function and Fertility Issues in Childhood Cancer Survivors | ESPEYB20

7.4. Reduced-intensity conditioning mitigates risk for primary ovarian insufficiency but does not decrease risk for infertility in pediatric and young adult survivors of hematopoietic stem cell transplantation

JD Bender , H Oquendo-Del Toro , J Benoit , JC Howell , P Badia , SM Davies , MS Grimley , S Jodele , C Phillips , K Burns , R Marsh , A Nelson , G Wallace , CE Dandoy , A Pate , AC Strine , O Frias , L Breech , SR Rose , H Hoefgen , P Khandelwal , KC Myers

Brief summary: This single-center, retrospective, cross-sectional study compared the prevalence of gonadal insufficiency and infertility among 58 pubertal, post pubertal and young adult survivors of hematopoietic stem cell Transplantation (HSCT), treated with conditioning regimens of different intensity.Gonadal insufficiency or infertility affects almost all HSCT survivors who received a myeloablative conditioning (MAC) regimen. In recent years, reduced-...
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ey0020.7-7 | Gonadal Function and Fertility Issues in Childhood Cancer Survivors | ESPEYB20

7.7. The uterine volume is dramatically decreased after hematopoietic stem cell transplantation during childhood regardless of the conditioning regimen

B Courbiere , B Drikes , A Grob , Z Hamidou , P Saultier , Y Bertrand , V Gandemer , D Plantaz , G Plat , M Poiree , S Ducassou , C Pochon , JH Dalle , S Thouvenin , C Paillard , J Kanold , A Sirvent , C Rousset-Jablonski , S Duros , A Gueniffey , C Cohade , S Boukaidi , S Frantz , M Agopiantz , C Poirot , A Genod , O Pirrello , AS Gremeau , S Bringer-Deutsch , P Auquier , G Michel

Brief summary: This French multicenter prospective study analyzed uterine volume by pelvic MRI in 88 women (age range 18–40 years), who were survivors of childhood acute leukemia treated with hematopoietic stem cell transplantation (HSCT). They were compared to 88 healthy women matched for age and parity.Conditioning regimens before HSCT included alkylating agents for 34 women and total body irradiation (TBI) for 54 women. Scans were centralized and...
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ey0020.12-2 | Genetics | ESPEYB20

12.2. Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland

CF Wright , P Campbell , RY Eberhardt , S Aitken , D Perrett , S Brent , P Danecek , EJ Gardner , VK Chundru , SJ Lindsay , K Andrews , J Hampstead , J Kaplanis , KE Samocha , A Middleton , J Foreman , RJ Hobson , MJ Parker , HC Martin , DR Fitz Patrick , ME Hurles , HV for the DDD Study Firth

Brief summary: In this large-scale, multicenter DNA sequencing study, probands (and families; n=13 449) with previously undiagnosed, severe, likely monogenic, complex developmental disorders from 24 centers in the UK and Irland were studied by whole exome sequencing and microarray analysis. Multimodal data analysis yielded a diagnosis in 41%, more likely with TRIO family analysis. Probands with a history of extreme prematurity, in utero exposure to antiepileptics and ...
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ey0015.2-1 | A novel disorder of hyperinsulinaemic hypoglycaemia and polycystic kidneys | ESPEYB15

A novel disorder of hyperinsulinaemic hypoglycaemia and polycystic kidneys

OR Cabezas , SE Flanagan , H Stanescu , E García-Martínez , R Caswell , H Lango-Allen , M Antón-Gamero , J Argente , AM Bussell , A Brandli , C Cheshire , E Crowne , S Dumitriu , R Drynda , JP Hamilton-Shield , W Hayes , A Hofherr , D Iancu , N Issler , C Jefferies , P Jones , M Johnson , A Kesselheim , E Klootwijk , M Koettgen , W Lewis , JM Martos , M Mozere , J Norman , V Patel , A Parrish , C Pérez-Cerdá , J Pozo , SA Rahman , N Sebire , M Tekman , PD Turnpenny , WV Hoff , DHHM Viering , MN Weedon , P Wilson , L Guay-Woodford , R Kleta , K Hussain , S Ellard , D Bockenhauer

To read the full abstract: J Am Soc Nephrol. 2017 Aug;28(8):2529-2539The association of hyperinsulinaemic hypoglycaemia (HH) and polycystic kidneys has not been reported before. Here, the authors studied 17 patients from 11 different families and found that all patients had a combination HH and polycystic kidneys. The HH was mild and some patients required diazoxide therapy. In contrast the poly...
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ey0020.13-1 | Section | ESPEYB20

13.1. Taurine deficiency as a driver of aging

P Singh , K Gollapalli , S Mangiola , D Schranner , MA Yusuf , M Chamoli , SL Shi , B Lopes Bastos , T Nair , A Riermeier , EM Vayndorf , JZ Wu , A Nilakhe , CQ Nguyen , M Muir , MG Kiflezghi , A Foulger , A Junker , J Devine , K Sharan , SJ Chinta , S Rajput , A Rane , P Baumert , M Schonfelder , F Iavarone , G di Lorenzo , S Kumari , A Gupta , R Sarkar , C Khyriem , AS Chawla , A Sharma , N Sarper , N Chattopadhyay , BK Biswal , C Settembre , P Nagarajan , KL Targoff , M Picard , S Gupta , V Velagapudi , AT Papenfuss , A Kaya , MG Ferreira , BK Kennedy , JK Andersen , GJ Lithgow , AM Ali , A Mukhopadhyay , A Palotie , G Kastenmuller , M Kaeberlein , H Wackerhage , B Pal , VK Yadav

In Brief: The authors describe a wide range of studies. Firstly, observational studies showed that circulating taurine concentrations decline with age in mice, monkeys, and humans – and in the latter, low taurine was associated with metabolic disease (abdominal fat, blood pressure, Type 2 diabetes). They then gave oral taurine to mice throughout their lives and showed that this increased lifespan by 10–12% and improved functional outcomes of almost all tissues studie...
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ey0018.1-15 | Clinical/Translational | ESPEYB18

1.15. Clinical outcomes and complications of pituitary blastoma

APY Liu , MM Kelsey , N Sabbaghian , SH Park , CL Deal , AJ Esbenshade , O Ploner , A Peet , H Traunecker , YHE Ahmed , M Zacharin , A Tiulpakov , AM Lapshina , AW Walter , P Dutta , A Rai , M Korbonits , L de Kock , KE Nichols , WD Foulkes , JR Priest

J Clin Endocrinol Metab. 2021 Jan 23;106(2):351–363. doi: 10.1210/clinem/dgaa857. PMID: 33236116.Here, the authors report the long−term outcomes of all 17 known, well−investigated cases of pituitary blastoma. The median age at diagnosis was 11 months, and the most frequent presentations were Cushing syndrome (n=10), cranial nerve palsies including ophthalmoplegia (...
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ey0018.2-8 | Neonatal diabetes mellitus | ESPEYB18

2.8. Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.

P Bowman , F Mathews , F Barbetti , MH Shepherd , J Sanchez , B Piccini , J Beltrand , LR Letourneau-Freiberg , M Polak , SAW Greeley , E Rawlins , T Babiker , NJ Thomas , E De Franco , S Ellard , SE Flanagan , AT Hattersley , Neonatal Diabetes International Collaborative Group

Diabetes Care. 2021 Jan;44(1):35–42. doi: 10.2337/dc20-1520. PMID: 33184150.The key findings from this cohort of patients with ABCC8 neonatal diabetes mellitus (NDM) are: A) good glycaemic control is maintained over the long-term without any serious adverse events (including severe hypoglycaemia) despite high doses of sulphonylurea, B) some patients show improvements in neurologica...
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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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ey0018.3-4 | Thyroid development | ESPEYB18

3.4. Single-cell transcriptome analysis reveals thyrocyte diversity in the zebrafish thyroid gland

P Gillotay , M Shankar , B Haerlingen , E Sema Elif , M Pozo-Morales , I Garteizgogeascoa , S Reinhardt , A Krankel , J Blasche , A Petzold , N Ninov , G Kesavan , C Lange , M Brand , A Lefort , F Libert , V Detours , S Costagliola , S Sumeet Pal

EMBO Rep. 2020;21:e50612. doi: 10.15252/embr.202050612.This zebrafish study identified and molecularly characterized adult transcriptionally different thyrocyte subpopulations even within the same follicle.It is well established that within a thyroid gland, follicles are heterogenous concerning functional activity. More active follicles are characterized by a high co...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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