ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 6 results

ey0017.1-8 | Clinical Highlights | ESPEYB17

1.8. Should we assess pituitary function in children after a mild traumatic brain injury? A prospective study

Briet Claire , Braun Karine , Lefranc Michel , Toussaint Patrick , Boudailliez Bernard , Bony Helene

To read the full abstract: Front Endocrinol (Lausanne). 2019 Mar 19;10:149. doi: 10.3389/fendo.2019.00149. eCollection 2019. PMID: 30941101.It has known that severe traumatic brain injury (TBI) can cause permanent pituitary dysfunction with variable rates, but what about mild TBI?Briet et al. studied 109 children with a traumatic brain injury and Glasgow co...
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ey0018.4-4 | Important for clinical practice | ESPEYB18

4.4. Growth hormone treatment in Prader-Willi syndrome patients: systematic review and meta-analysis

Passone Caroline de Gouveia Buff , Franco Ruth Rocha , Ito Simone Sakura , Trindade Evelinda , Polak Michel , Damiani Durval , Bernardo Wanderley Marques

BMJ Paediatrics Open 2020;4:e000630. doi: 10.1136/bmjpo-2019-000630. PMID: 32411831This systematic review and meta-analysis provides an up to date report on rhGH in patients with Prader–Willi syndrome (PWS). The review included 463 papers published until September 2019. 16 randomized (RCTs) and 20 not randomized (NRCTs) trials were selected for the meta-analysis. The findings suppor...
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ey0020.3-1 | Novel Treatments for Rare Skeletal Disorders | ESPEYB20

3.1. Safety and efficacy of denosumab for fibrous dysplasia of bone

LF de Castro , Z Michel , K Pan , J Taylor , V Szymczuk , S Paravastu , B Saboury , GZ Papadakis , X Li , K Milligan , B Boyce , SM Paul , MT Collins , AM Boyce

In Brief: This phase 2 study investigated the effect of the RANKL inhibitor denosumab on fibrous dysplasia lesion activity, as well as the rebound in bone turnover after treatment discontinuation.Commentary: Denosumab is a humanized monoclonal antibody that inhibits RANKL with potent but transient antiosteoclastic effects, and discontinuation of denosumab treatment is associated with a rebound in bone turnover. In this study, eight women received high do...
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ey0016.3-12 | New Genes | ESPEYB16

3.12. TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

A Stoupa , F Adam , D Kariyawasam , C Strassel , S Gawade , G Szinnai , A Kauskot , D Lasne , C Janke , K Natarajan , A Schmitt , C Bole-Feysot , P Nitschke , J Leger , F Jabot-Hanin , F Tores , A Michel , A Munnich , C Besmond , R Scharfmann , F Lanza , D Borgel , M Poalk , A Carre

To read the full abstract: EMBO Mol Med 2018;e9569:1–18TUBB1 encodes a member of the beta-tubulin protein family. Beta-tubulins and alpha-tubulins form dimers, which assemble into microtubules belonging to the intracellular cytoskeleton structure.The authors identified three different mutations in TUBB1 by whole exome sequencing in a large co...
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ey0020.7-5 | Gonadal Function and Fertility Issues in Childhood Cancer Survivors | ESPEYB20

7.5. Ovarian function and spontaneous pregnancy after hematopoietic stem cell transplantation for leukemia before puberty: An L.E.A. cohort study

M Chabut , P Schneider , B Courbiere , P Saultier , Y Bertrand , MD Tabone , C Pochon , S Ducassou , C Paillard , V Gandemer , J Kanold , JH Dalle , M Poiree , G Plat , S Thouvenin , D Plantaz , N Sirvent , S Weinhard , J Berbis , A Baruchel , G Leverger , Z Hamidou , P Auquier , G Michel

Brief summary: This French retrospective observational study evaluated ovarian function, premature ovarian insufficiency (POI) and spontaneous pregnancy in 178 women who had undergone hematopoietic stem cell transplantation (HSCT) for leukemia before puberty; 116/178 had received total body irradiation (TBI) and 62 had received a busulfan-based conditioning regimen.Sixty percent of women needed pubertal induction; only 40% had spontaneous menarche and ha...
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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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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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