ISSN 1662-4009 (online)

ey0018.5-14 | Advances in skeletal biology | ESPEYB18

5.14. Piezo1 inactivation in chondrocytes impairs trabecular bone formation

Hendrickx Gretl , Fischer Verena , Liedert Astrid , von Kroge Simon , Haffner-Luntzer Melanie , Brylka Laura , Pawlus Eva , Schweizer Michaela , Yorgan Timur , Baranowsky Anke , Rolvien Tim , Neven Mona , Schumacher Udo , Beech David J , Amling Michael , Ignatius Anita , Schinke Thorsten

J Bone Miner Res. 2021 Feb;36(2):369–384 Abstract: https://pubmed.ncbi.nlm.nih.gov/33180356/In brief: Chondrocyte-specific ablation of the mechano-sensory Piezo1 results in substantially impaired formation of secondary spongiosa during endochondral bone formation. The study explores this unexpected finding and show that mechano-sensing in growth plate chondrocytes directly reg...

ey0018.9-6 | Surveillance strategies of endocrine complications | ESPEYB18

9.6. Female reproductive function after treatment of childhood acute lymphoblastic leukemia

R Roshandel , M van Dijk , A Overbeek , G Kaspers , C Lambalk , C Beerendonk , D Bresters , M van der Heiden-van der Loo , M van den Heuvel-Eibrink , L Kremer , J Loonen , H van der Pal , C Ronckers , W Tissing , B Versluys , F van Leeuwen , M van den Berg , E van Dulmen-den Broeder

Pediatr Blood Cancer. 2021; 68: e28894. https://pubmed.ncbi.nlm.nih.gov/33459500/This cross-sectional observational study examined reproductive function in a nationwide cohort of female childhood acute lymphoblastic leukemia (ALL) survivors.Self-reported reproductive characteristics (age at menarche, virginity status, desire for children, pregnancy rates, and adverse ...

ey0018.11-12 | Criticism of the previous BMI metrics for use in severely obese children | ESPEYB18

11.12. A longitudinal comparison of alternatives to body mass index Z-Scores for children with very high body mass indexes

DS Freedman , AJ Goodwin Davies , L Kompaniyets , SJ Lange , AB Goodman , T Tam Phan , FS Cole , A Dempsey , N Pajor , I Eneli , DA Christakis , CB Forrest

J Pediatr. 2021 Mar 5;S0022-3476(21)00211-0. https://pubmed.ncbi.nlm.nih.gov/33676932/The authors analysed BMI data from 10.8 million children and adolescents from the PEDSnet database (USA), collected longitudinally between 1999-2019, to examine the tracking of various BMI metrics (BMIz, BMImz, BMIz extended, %BMIp95, %BMIp50,%BMIp50 adjusted| calculated according to CDC growth char...

ey0019.3-2 | Thyroid hormone action | ESPEYB19

3.2. Congenital hypothyroidism and hyperthyroidism alters adrenal gene expression, development, and function

K Patyra , C Lof , H Jaeschke , H Undeutsch , HS Zheng , S Tyystjarvi , K Puławska , M Doroszko , M Chruściel , BM Loo , R Kurkijarvi , FP Zhang , CJ Huang , C Ohlsson , A Kero , M Poutanen , J Toppari , R Paschke , N Rahman , I Huhtaniemi , J Jaaskelainen , J Kero

Thyroid. 2022 Apr;32(4):459-471. doi: 10.1089/thy.2021.0535. PMID: 35044245Brief Summary: This study combines animal model and patient cohort data on the effect of hyperthyroidism and hypothyroidism at birth on adrenal gland development and function. The data revealed reciprocal effects of neonatal hyper- and hypothyroidism on adrenal development, activity of the adrenal steroidogenic pathway a...

ey0017.2-14 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB17

2.14. Gestational diabetes adversely affects pancreatic islet architecture and function in the male rat offspring

P Agarwal , N Brar , TS Morriseau , SM Kereliuk , MA Fonseca , LK Cole , A Jha , B Xiang , KL Hunt , N Seshadri , GM Hatch , CA Doucette , VW Dolinsky

To read the full abstract: Endocrinology. 2019 Aug 1;160(8):1907–1925. PMID: 31237608Gestational diabetes (GDM) is associated with impaired beta-cell function in the offspring and this leads to increased risk of type 2 diabetes mellitus (1). However, the underlying mechanisms are not well understood. GDM exposure may alter islet gene expression and function in the fetus. Impai...

ey0017.2-15 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB17

2.15. Efficacy of fish oil and/or probiotic intervention on the incidence of gestational diabetes mellitus in an at-risk group of overweight and obese women: A randomized, placebo-controlled, double-blind clinical trial

O Pellonpera , K Mokkala , N Houttu , T Vahlberg , E Koivuniemi , K Tertti , T Ronnemaa , K Laitinen

To read the full abstract: Diabetes Care. 2019 Jun;42(6):1009–1017. PMID: 30967436Gestational diabetes mellitus (GDM) is increasing in incidence, affecting approximately 14% of pregnancies. Preventing GDM may significantly improve outcome for both mothers and offspring. The pathogenesis of GDM involves insulin resistance, pancreatic beta-cell failure and an increase in inflamm...

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...

ey0017.6-6 | Differences/Disorders of Sex Development: Basic Research | ESPEYB17

6.6. CBX2-dependent transcriptional landscape: implications for human sex development and its defects

P Sproll , W Eid , A Biason-Lauber

To read the full abstract: Sci Rep. 2019, Nov 12; 9: 16552. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851130/pdf/41598_2019_Article_53006.pdfA complex network of genes contributes to (human) sex development. Among these, CBX2 is involved in the initial programming of the bipotential gonad to either the ovary or testis pathway. Ch...

ey0017.9-16 | Cancer Treatment and Bone Health | ESPEYB17

9.16. Severity of reduced bone mineral density and risk of fractures in long-term survivors of childhood leukemia and lymphoma undergoing guideline-recommended surveillance for bone health

HM Bloomhardt , K Sint , WL Ross , J Rotatori , K Ness , C Robinson , TO Carpenter , EJ Chow , NS Kadan-Lottick

To read the full abstract: Cancer. 2020;126(1):202–210. nina.kadan-lottick@yale.eduWhile in healthy adults and children low BMD is associated with fracture risk, this relationship still needs to be clarified in childhood cancer survivors (CCS). This cross-sectional study analysed BMD and fracture history in 542 childhood leukaemia/lymphoma survivors, who received guideline-recommended DXA sur...

ey0016.2-7 | Neonatal Diabetes Mellitus | ESPEYB16

2.7. A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development

E De Franco , RA Watson , WJ Weninger , CC Wong , SE Flanagan , R Caswell , A Green , C Tudor , CJ Lelliott , SH Geyer , B Maurer-Gesek , LF Reissig , H Lango Allen , A Caliebe , R Siebert , PM Holterhus , A Deeb , F Prin , R Hilbrands , H Heimberg , S Ellard , AT Hattersley , I Barroso

To read the full abstract: Am J Hum Genet. 2019 May 2;104(5):985–989.This study reports the identification of a novel gene that is involved in the regulation of the pancreatic development.Understanding the molecular mechanisms of pancreatic development is important, for example to guide the progress of beta-cell replacement therapy for patients with Type 1 dia...