Abstract Search

ey0019.15-18 | Basic Science and Genetics | ESPEYB19

15.18. Life histories of myeloproliferative neoplasms inferred from phylogenies

N Williams , J Lee , E Mitchell , L Moore , EJ Baxter , J Hewinson , KJ Dawson , A Menzies , AL Godfrey , AR Green , PJ Campbell , J Nangalia

Nature. 2022;602(7895):162-8. doi: 10.1038/s41586-021-04312-6.PubMed ID: 35058638Brief summary: This study performed whole-genome sequencing (WGS) of 1013 clonal haematopoietic cell colonies from 12 adult patients aged 2081 years with myeloproliferative neoplasms, a form of blood cancer. They identified 580 133 somatic mutations and used these to reconstruct haematopoietic clonal his...

0 shares

ey0016.9-1 | Long Term Outcomes of Childhood Cancer: A Changing Burden | ESPEYB16

9.1. The changing burden of long-term health outcomes in survivors of childhood acute lymphoblastic leukaemia: a retrospective analysis of the St Jude lifetime cohort study

DA Mulrooney , G Hyun , KK Ness , N Bhakta , CH Pui , MJ Ehrhardt , KR Krull , DB Crom , W Chemaitilly , DK Srivastava , MV Relling , S Jeha , DM Green , Y Yasui , LL Robison , MM Hudson

To read the full abstract: Lancet Haematol. 2019 Jun; 6(6): e306.The St Jude Lifetime (SJLIFE) Cohort is a retrospective cohort of childhood cancer survivors (CCS), who are followed prospectively in order to evaluate long-term health outcomes. This study evaluated chronic health conditions in 980 childhood lymphoblastic leukaemia survivors of the SJLIFE cohort, compared to 272 matched co...

0 shares

ey0015.9-1 | Late consequences of tumour therapy: prevention and monitoring | ESPEYB15

9.1 Late outcomes of adult survivors of childhood non-Hodgkin lymphoma: A report from the St. Jude Lifetime Cohort Study

MJ Ehrhardt , JT Sandlund , N Zhang , W Liu , KK Ness , N Bhakta , W Chemaitilly , KR Krull , TM Brinkman , DB Crom , L Kun , SC Kaste , GT Armstrong , DM Green , K Srivastava , LL Robison , MM Hudson , DA Mulrooney

To read the full abstract: Pediatr Blood Cancer. 2017;64(6):e26338Through a comprehensive, risk-based clinical assessment and validation of medical events, this study provides a detailed heath status characterization of adult survivors of paediatric non-Hodgkin lymphoma (NHL). Survivors showed an increased risk of suffering from one or more components of the metabolic syndrome (obesity 35%, hypertens...

0 shares

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):985989.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...

0 shares

ey0020.12-5 | Genetics | ESPEYB20

12.5. Perspectives of rare disease experts on newborn genome sequencing

NB Gold , SM Adelson , N Shah , S Williams , SL Bick , ES Zoltick , JI Gold , A Strong , R Ganetzky , AE Roberts , M Walker , AM Holtz , VG Sankaran , O Delmonte , W Tan , IA Holm , JR Thiagarajah , J Kamihara , J Comander , E Place , J Wiggs , RC Green

Brief summary: This survey study addressed the question whether rare disease experts (n=238) would advise genetic neonatal screening for treatable genetic disorders. Most experts (87.9%) agreed that genetic analysis for a limited number of monogenic treatable conditions should be available to all newborns.Newborn screening has been introduced for diagnosing a few treatable congenital disorders at birth in apparently healthy newborns, in order to...

0 shares

ey0020.4-10 | Gender Incongruence (GI): New Guidance | ESPEYB20

4.10. Standards of Care for the Health of Transgender and Gender Diverse People, Version 8

E Coleman , AE Radix , WP Bouman , GR Brown , ALC de Vries , MB Deutsch , R Ettner , L Fraser , M Goodman , J Green , AB Hancock , TW Johnson , DH Karasic , GA Knudson , SF Leibowitz , HFL Meyer-Bahlburg , SJ Monstrey , J Motmans , L Nahata , TO Nieder , SL Reisner , C Richards , LS Schechter , V Tangpricha , AC Tishelman , MAA Van Trotsenburg , S Winter , K Ducheny , NJ Adams , TM Adrian , LR Allen , D Azul , H Bagga , K Başar , DS Bathory , JJ Belinky , DR Berg , JU Berli , RO Bluebond-Langner , MB Bouman , ML Bowers , PJ Brassard , J Byrne , L Capitan , CJ Cargill , JM Carswell , SC Chang , G Chelvakumar , T Corneil , KB Dalke , G De Cuypere , E de Vries , M Den Heijer , AH Devor , C Dhejne , A D'Marco , EK Edmiston , L Edwards-Leeper , R Ehrbar , D Ehrensaft , J Eisfeld , E Elaut , L Erickson-Schroth , JL Feldman , AD Fisher , MM Garcia , L Gijs , SE Green , BP Hall , TLD Hardy , MS Irwig , LA Jacobs , AC Janssen , K Johnson , DT Klink , BPC Kreukels , LE Kuper , EJ Kvach , MA Malouf , R Massey , T Mazur , C McLachlan , SD Morrison , SW Mosser , PM Neira , U Nygren , JM Oates , J Obedin-Maliver , G Pagkalos , J Patton , N Phanuphak , K Rachlin , T Reed , GN Rider , J Ristori , S Robbins-Cherry , SA Roberts , KA Rodriguez-Wallberg , SM Rosenthal , K Sabir , JD Safer , AI Scheim , LJ Seal , TJ Sehoole , K Spencer , C St Amand , TD Steensma , JF Strang , GB Taylor , K Tilleman , GG T'Sjoen , LN Vala , NM Van Mello , JF Veale , JA Vencill , B Vincent , LM Wesp , MA West , J Arcelus

Brief summary: The World Professional Association for Transgender Health (WPATH) has issued an updated Standards of Care version 8 which contains important guidelines on how the assessment of gender variant children and adolescents should be considered, and by whom, and provides guidance around the consideration of young people for hormonal intervention.This long and detailed document has had considerable input from many experts involved in transgender c...

0 shares

ESPE Yearbook of Paediatric Endocrinology

15.18. Life histories of myeloproliferative neoplasms inferred from phylogenies

9.1. The changing burden of long-term health outcomes in survivors of childhood acute lymphoblastic leukaemia: a retrospective analysis of the St Jude lifetime cohort study

9.1 Late outcomes of adult survivors of childhood non-Hodgkin lymphoma: A report from the St. Jude Lifetime Cohort Study

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

12.5. Perspectives of rare disease experts on newborn genome sequencing

4.10. Standards of Care for the Health of Transgender and Gender Diverse People, Version 8

BiosciAbstracts