ISSN 1662-4009 (online)

ey0019.9-14 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.14. Effect of Genetic Variation in CYP450 on gonadal impairment in a European cohort of female childhood cancer survivors, based on a candidate gene approach: results from the PanCareLIFE study

der Perk MEM van , L Broer , Y Yasui , LL Robison , MM Hudson , JSE Laven , der Pal HJ van , WJE Tissing , B Versluys , D Bresters , GJL Kaspers , Vries ACH de , CB Lambalk , A Overbeek , JJ Loonen , CCM Beerendonk , J Byrne , C Berger , E Clemens , U Dirksen , Winther J Falck , SD Fossa , D Grabow , M Muraca , M Kaiser , T Kepak , J Kruseova , D Modan-Moses , C Spix , O Zolk , P Kaatsch , JH Krijthe , LCM Kremer , RJ Brooke , JL Baedke , RHN van Schaik , JN van den Anker , AG Uitterlinden , AME Bos , FE van Leeuwen , E van Dulmen-den Broeder , ALF van der Kooi , MM van den Heuvel-Eibrink

On Behalf Of The PanCareLIFE Consortium. m.e.m.vanderperk@prinsesmaximacentrum.nl Cancers (Basel). 2021; 13: 4598. PMID: 34572825.Brief Summary: This cohort study of female childhood cancer survivors (CCS) identified associations between specific nucleotide polymorphisms (SNP) in cytochrome P450 (CYP450) enzymes, which metabolize alkylating agents (AA), and variability in AA-induced o...

ey0017.3-12 | Clinical trials for thyroid disease | ESPEYB17

3.12. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

S Groeneweg , RP Peeters , C Moran , A Stoupa , F Auriol , D Tonduti , A Dica , L Paone , K Rozenkova , J Malikova , A van der Walt , IFM de Coo , A McGowan , G Lyons , FK Aarsen , D Barca , IM van Beynum , MM van der Knoop , J Jansen , M Manshande , RJ Lunsing , S Nowak , CA den Uil , MC Zillikens , FE Visser , P Vrijmoeth , MCY de Wit , NI Wolf , A Zandstra , G Ambegaonkar , Y Singh , YB de Rijke , M Medici , ES Bertini , S Depoorter , J Lebl , M Cappa , L De Meirleir , H Krude , D Craiu , F Zibordi , I Oliver Petit , M Polak , K Chatterjee , TJ Visser , WE Visser

To read the full abstract: Lancet Diabetes Endocrinol. 2019;7:695–706.The hallmarks of MCT8 deficiency are severe psychomotor retardation due to intracellular hypothyroidism in neuronal tissues and peripheral T3 thyrotoxicosis associated low weight, muscle wasting, high normal or increased heart rate and systolic blood pressure. TRIAC – the T3 analogue 3,3’,5-tri-iodothyroacetic acid – enters target cells in an MCT8 independe...

ey0016.14-14 | (1) | ESPEYB16

14.14. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

J Lord , DJ McMullan , RY Eberhardt , G Rinck , SJ Hamilton , E Quinlan-Jones , E Prigmore , R Keelagher , SK Best , GK Carey , R Mellis , S Robart , IR Berry , KE Chandler , D Cilliers , L Cresswell , SL Edwards , C Gardiner , A Henderson , ST Holden , T Homfray , T Lester , RA Lewis , R Newbury-Ecob , K Prescott , OW Quarrell , SC Ramsden , E Roberts , D Tapon , MJ Tooley , PC Vasudevan , AP Weber , DG Wellesley , P Westwood , H White , M Parker , D Williams , L Jenkins , RH Scott , MD Kilby , LS Chitty , ME Hurles , ER Maher

To read the full abstract: Lancet 2019;393:747–757. .This large prospective cohort study recruited from 34 UK fetal medicine units to evaluate the use of prenatal whole genome sequencing in 610 fetuses with a structural abnormality detected on antenatal ultrasound scanning and no chromosomal abnormality. Overall, a diagnostic genetic mutation ...

ey0018.1-9 | Genetics | ESPEYB18

1.9. Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development

EJ Lodge , P Xekouki , TS Silva , C Kochi , CA Longui , FR Faucz , A Santambrogio , JL Mills , N Pankratz , J Lane , D Sosnowska , T Hodgson , AL Patist , P Francis-West , F Helmbacher , C Stratakis , CL Andoniadou

JCI Insight. 2020 Oct 27;5(23):e134310. doi: 10.1172/jci.insight.134310. PMID: 33108146.Lodge et al. screened 28 patients with pituitary stalk interruption syndrome (PSIS) for mutations in the FAT/DCHS (FAT atypical cadherin/ Dachsous cadherin-related) family of protocadherins. FAT2 and DCHS2 putative damaging variants were found in 6/28 patients with ectopic ...

ey0018.4-12 | New Perspectives | ESPEYB18

4.12. DNA methylation profiling and genomic analysis in 20 children with short stature who were born small for gestational age

S Peeters , K Declerck , M Thomas , E Boudin , D Beckers , O Chivu , C Heinrichs , K Devriendt , F de Zegher , Hul Van , Vanden Wim , V Berghe , J De Schepper , R Rooman , G Mortier

J Clin Endocrinol Metab. 2020;105(2):dgaa465. doi: 10.1210/clinem/dgaa465. PMID: 32685970This study aimed to identify potential (epi)genetic causes of short stature in 20 SGA children (13 boys; 7 girls) treated with rhGH. Exome sequencing, single-nucleotide polymorphism (SNP) array (both performed in the whole cohort) and genome-wide methylation analysis (performed in a random subset of 10 ...

ey0018.5-7 | Advances in clinical practice | ESPEYB18

5.7. Effect of vitamin D3 supplementation on severe asthma exacerbations in children with asthma and low vitamin D levels: the VDKA randomized clinical trial

Forno Erick , Bacharier Leonard B , Phipatanakul Wanda , Guilbert Theresa W , Cabana Michael D , Ross Kristie , Covar Ronina , Gern James E , Rosser Franziska J , Blatter Joshua , Durrani Sandy , Han Yueh-Ying , Wisniewski Stephen R , Celedon Juan C

JAMA. 2020 Aug 25;324(8):752–760. doi: 10.1001/jama.2020.12384. Abstract: https://pubmed.ncbi.nlm.nih.gov/32840597/In brief: Several observational studies have linked low serum 25(OH)D levels to severe asthma exacerbations, lower lung function, and reduced response to corticosteroids. In this randomized controlled trial...

ey0018.6-4 | Basic and Genetic Research of DSD | ESPEYB18

6.4. COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.

H Mandel , N Cohen Kfir , A Fedida , E Shuster Biton , M Odeh , L Kalfon , S Ben- Harouch , V Fleischer Sheffer , Y Hoffman , Y Goldberg , A Dinwiddie , E Dumin , A Eran , L Apel-Sarid , D Tiosano , TC Falik-Zaccai

Clin Genet. 2020 Oct;98(4):402–407. 10.1111/cge.13816. PMID: 32683677.This short report describes two 46,XY siblings of consanguineous parents manifesting a complex syndrome consisting of multiple dysmorphic features including growth and developmental retardation, gastrointestinal disorders, musculoskeletal and cardiac anomalies, as well as ambiguous genitalia (non-palpable testes, micropenis, und...

ey0018.9-13 | Cardiometabolic risk in chronic disease | ESPEYB18

9.13. Biomarkers of cardiometabolic complications in survivors of childhood acute lymphoblastic leukemia

S Morel , P Leveille , M Samoilenko , A Franco , J England , N Malaquin , V Tu , GB Cardin , S Drouin , F Rodier , S Lippe , M Krajinovic , C Laverdiere , D Sinnett , G Lefebvre , E Levy , V Marcil

Sci Rep. 2020 Dec 9; 10: 21507. https://pubmed.ncbi.nlm.nih.gov/33299020/This cross-sectional study of 246 childhood acute lymphoblastic leukemia (cALL) survivors aimed to analyze the relationships between various blood biomarkers and cardiovascular risk, and to test the link between endotoxemia and cardiometabolic complications. A high leptin-adiponectin ratio was associated with obesity, ...

ey0018.10-6 | (1) | ESPEYB18

10.6. Yield of a public health screening of children for islet autoantibodies in Bavaria, Germany

A Ziegler , K Kick , E Bonifacio , F Haupt , M Hippich , D Dunstheimer , M Lang , O Laub , K Warncke , K Lange , R Assfalg , M Jolink , C Winkler , P Achenbach , Fr1da Study Group

JAMA. 2020;323(4):339–351. doi: 10.1001/jama.2019.21565This study aimed to determine the prevalence of pre-symptomatic T1D in young children participating in a public health screening program for islet autoantibodies and the risk for progression to clinical T1D in children carrying multiple autoantibodies. On screening, 0.03% were found to have clinical T1D. Of the 0.31% who were foun...

ey0018.11-1 | The COVID 19 pandemic and obesity | ESPEYB18

11.1. Characteristics of hospitalized children with SARS-CoV-2 in the New York city metropolitan area

S Verma , R Lumba , HM Dapul , G Gold-von Simson , CK Phoon , JL Lighter , JS Farkas , A Vinci , A Noor , VN Raabe , D Rhee , M Rigaud , PV Mally , TM Randis , B Dreyer , AJ Ratner , CS Manno , A Chopra

Hosp Pediatr. 2021 Jan;11(1):71–78. 10.1542/hpeds.2020-001917. https://pubmed.ncbi.nlm.nih.gov/33033078/In a cohort of 82 children (0–21 years) who were hospitalised for severe SARS-CoV-2 associated respiratory illness, obesity was the strongest risk factor for the outcome of critical care. Already during the first COVID-19 wave...