ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 23 of about 371 results

ey0019.14-13 | New treatments | ESPEYB19

14.13. CRISPR-Cas9 in vivo gene editing for transthyretin amyloidosis

Gillmore Julian D , Gane Ed , Taubel Jorg , Kao Justin , Fontana Marianna , Maitland Michael L , Seitzer Jessica , O'Connell Daniel , Walsh Kathryn R , Wood Kristy , Phillips Jonathan , Xu Yuanxin , Amaral Adam , Boyd Adam P , Cehelsky Jeffrey E , McKee Mark D , Schiermeier Andrew , Harari Olivier , Murphy Andrew , Kyratsous Christos A , Zambrowicz Brian , Soltys Randy , Gutstein David E , Leonard John , Sepp-Lorenzino Laura , Lebwohl David

N Engl J Med. 2021 Aug 5;385(6):493–502. PMID: 34215024 doi: 10.1056/NEJMoa2107454. Epub 2021 Jun 26.Brief Summary: 6 patients with hereditary, life-threatening transthyretin amyloidosis were treated with a novel in vivo gene-editing therapeutic agent (NTLA-2001) based on CRISPR-Cas9 technology. The new agent was given intravenously in a single dose and was able to durably knockou...
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ey0017.3-11 | Clinical trials for thyroid disease | ESPEYB17

3.11. Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial

C Mircher , S Sacco , C Bouis , J Gallard , A Pichot , E Le Galloudec , Cieuta , I Marey , O Greiner-Mahler , N Dorison , A Gambarini , S Stora , S Durand , M Polak , A Baruchel , E Schlumberger , J Dewailly , A Azar-Kolakez , RM Gueant-Rodriguez , JL Gueant , D Borderie , D Bonnefont-Rousselot , E Blondiaux , A Ravel , FG Sturtz

To read the full abstract: Genet Med. 2020;22:44–52.This single center, randomized, double-blind, placebo-controlled phase 3 study investigated the effects of levothyroxine, folic acid, or both in combination over 12 months on global development in 143 infants with Down syndrome (DS). Over the last decades, treatment of DS associated co-morbidities has improved their life-expectancy. However, a therapy to improve mental development is still...
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ey0017.6-10 | Differences/Disorders of Sex Development: Clinical Studies | ESPEYB17

6.10. The external genitalia score (EGS): A European multicenter validation study

S Van der Straaten , A Springer , A Zecic , D Hebenstreit , U Tonnhofer , A Gawlik , M Baumert , K Szeliga , S Debulpaep , A Desloovere , L Tack , K Smets , M Wasniewska , D Corica , M Calafiore , ML Ljubicic , AS Busch , A Juul , A Nordenstrom , J Sigurdsson , CE Fluck , T Haamberg , S Graf , SE Hannema , KP Wolffenbuttel , O Hiort , SF Ahmed , M Cools

To read the full abstract: J Clin Endocrinol Metab. 2020, Mar 1; 105. doi: https://academic.oup.com/jcem/article-abstract/105/3/e222/5609091?redirectedFrom=fulltextThis cross-sectional study collected measures of genital development from 181 premature neonates, 378 term neonates, 308 babies up to 24 months, and in 111 babies with atypical geni...
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ey0017.7-11 | Basic Science | ESPEYB17

7.11. Neuron-derived neurotrophic factor is mutated in congenital hypogonadotropic hypogonadism

A Messina , K Pulli , S Santini , J Acierno , J Kansakoski , D Cassatella , C Xu , F Casoni , SA Malone , G Ternier , D Conte , Y Sidis , J Tommiska , K Vaaralahti , A Dwyer , Y Gothilf , GR Merlo , F Santoni , NJ Niederlander , P Giacobini , T Raivio , N Pitteloud

To read the full abstract: American journal of human genetics vol. 106,1 (2020): 58–70. doi: https://www.sciencedirect.com/science/article/pii/S0002929719304677?via%3DihubBy performing next-generation sequencing in 240 unrelated probands with congenital hypogonadotropic hypogonadism and follow-up in multiple animal models, this study identifies ...
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ey0016.4-6 | Clinical Trials | ESPEYB16

4.6. rhIGF-1/rhIGFBP-3 in preterm Infants: A phase 2 randomized controlled trial

D Ley , B Hallberg , I Hansen-Pupp , C Dani , LA Ramenghi , N Marlow , K Beardsall , F Bhatti , D Dunger , JD Higginson , A Mahaveer , OJ Mezu-Ndubuisi , P Reynolds , C Giannantonio , M van Weissenbruch , N Barton , A Tocoian , M Hamdani , E Jochim , A Mangili , JK Chung , MA Turner , LEH Smith , A Hellstrom

To read the full abstract: J Pediatr. 2019;206:56–65.e8.IGF-I plays a key role in fetal growth and development [1]. IGF-I exerts pleiotropic effects including cell proliferation, survival and differentiation, but also influencing metabolism and angiogenesis.Very preterm newborns show a rapid decline serum IGF-I concentrations that remain low for the first week...
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ey0016.10-20 | (1) | ESPEYB16

10.20. Reduced burden of diabetes and improved quality of life: Experiences from unrestricted day-and-night hybrid closed-loop use in very young children with type 1 diabetes

G Musolino , K Dovc , CK Boughton , M Tauschmann , JM Allen , Nagl , M Fritsch , J Yong , E Metcalfe , D Schaeffer , M Fichelle , U Schierloh , AG Thiele , D Abt , H Kojzar , JK Mader , S Slegtenhorst , N Ashcroft , ME Wilinska , J Sibayan , N Cohen , C Kollman , SE Hofer , E Frohlich-Reiterer , TM Kapellen , CL Acerini , C de Beaufort , F Campbell , B Rami-Merhar , R Hovorka , Kidsap Consortium

Pediatr Diabetes. 2019 May 29. doi: 10.1111/pedi.12872. [Epub ahead of print]There might be many benefits arising from the artificial pancreas and other new technologies to deliver insulin and measure glucose levels. Whether or not such technological advances will improve the lives of children and families needs to be answered.This study surveyed the experiences of parent...
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ey0015.3-4 | Mechanisms of the year | ESPEYB15

3.4 Noncanonical thyroid hormone signaling mediates cardiometabolic effects in vivo

GS Hones , H Rakov , J Logan , XH Liao , E Werbenko , AS Pollard , SM Praestholm , MS Siersbaek , E Rijntjes , J Gassen , S Latteyer , K Engels , KH Strucksberg , P Kleinbongard , D Zwanziger , J Rozman , V Gailus-Durner , H Fuchs , M Hrabe de Angelis , L Klein-Hitpass , J Kohrle , DL Armstrong , L Grontved , JHD Bassett , GR Williams , S Refetoff , D Fuhrer , LC Moeller

To read the full abstract: Proc Natl Acad Sci U S A 2017;114:E11323-E11332The mechanism of thyroid hormone (TH) action is classically attributed to thyroid hormone receptor (THR) binding to thyroid hormone responsive elements (TRE) in promotors of target genes, directly controlling gene expression in target tissues. Thus, THRs alpha (TRa) and beta (TRb) function as TH dependent transcription ...
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ey0015.12-8 | New Mechanism (1) | ESPEYB15

12.8 Hyperglycemia drives intestinal barrier dysfunction and risk for enteric infection

CA Thaiss , M Levy , I Grosheva , D Zheng , E Soffer , E Blacher , S Braverman , AC Tengeler , O Barak , M Elazar , R Ben-Zeev , D Lehavi-Regev , MN Katz , M Pevsner-Fischer , A Gertler , Z Halpern , A Harmelin , S Aamar , P Serradas , A Grosfeld , H Shapiro , B Geiger , E Elinav

To read the full abstract: Science 2018;359:1376-1383The metabolic syndrome (MetS) is associated with dysfunctions of the intestinal barrier, leading to increased permeability and translocation of microbial molecules into the intestinal lamina propria and to circulation. The entry of pathogens through an impaired barrier leads to an increased risk of infection, as well as to chronic inflammation...
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ey0020.3-8 | Advances in Clinical Practice | ESPEYB20

3.8. Nosology of genetic skeletal disorders: 2023 revision

S Unger , CR Ferreira , GR Mortier , H Ali , DR Bertola , A Calder , DH Cohn , V Cormier-Daire , KM Girisha , C Hall , D Krakow , O Makitie , S Mundlos , G Nishimura , SP Robertson , R Savarirayan , D Sillence , M Simon , VR Sutton , ML Warman , A Superti-Furga

In Brief: The 11th edition of the ‘Nosology’ is significantly expanded, now covering 771 conditions linked to 552 genes. In a major shift from previous editions, it has adopted a dyadic naming system that defines disorders based on both their phenotypic and genetic features. It continues to be a vital tool for diagnosing and communicating about genetic skeletal disorders.Commentary: The first Nosology of genetic skeletal disorders was published...
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ey0018.9-8 | Genetic susceptibility to treatment-related gonadotoxicity | ESPEYB18

9.8. Possible modification of BRSK1 on the risk of alkylating chemotherapy-related reduced ovarian function

ALF van der Kooi , M van Dijk , L Broer , MH van den Berg , JSE Laven , FE van Leeuwen , CB Lambalk , A Overbeek , JJ Loonen , HJ van der Pal , WJ Tissing , B Versluys , D Bresters , CCM Beerendonk , CR Ronckers , M van der Heiden-van der Loo , GL Kaspers , ACH de Vries , LL Robison , MM Hudson , W Chemaitilly , J Byrne , C Berger , E Clemens , U Dirksen , J Falck Winther , SD Fossa , D Grabow , R Haupt , M Kaiser , T Kepak , J Kruseova , D Modan-Moses , SMF Pluijm , C Spix , O Zolk , P Kaatsch , JH Krijthe , LC Kremer , Y Yasui , RJ Brooke , AG Uitterlinden , M van den Heuvel-Eibrink , E Mvan Dulmen-den Broeder

Hum Reprod. 2021; 36: 1120–1133. https://pubmed.ncbi.nlm.nih.gov/33582778/This multi-centre retrospective cohort study identifies that common genetic variants in DNA repair genes modify the damage induced by alkylating agents on ovarian function, as assessed by low AMH levels.Alkylating agents are known to induce apoptosis of cancer cells by damaging DNA replicat...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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