ISSN 1662-4009 (online)

ey0021.13-1 | Diabetes and Diabetes Technology | ESPEYB21

13.1. Feasibility of continuous glucose monitoring in patients with type 1 diabetes at two district hospitals in Neno, Malawi: a randomised controlled trial

A Gomber , F Valeta , MM Coates , C Trujillo , G Ferrari , M Boti , K Kumwenda , B Mailosi , D Nakotwa , L Drown , EB Wroe , A Thapa , V Mithi , B Matanje , A Msekandiana , PH Park , C Kachimanga , G Bukhman , T Ruderman , AJ Adler

Brief Summary: This randomized-control study at two rural hospitals in Malawi investigated the feasibility of continuous glucose monitoring (CGM) to improve care of patients with Type 1 diabetes (T1D) in a low-income and limited literacy setting. CGM was feasible with potential benefits, but the authors highlight several challenges in implementing advanced diabetes care in such settings.This trial 2:1 randomized 45 patients with T1D to Dexcom G6 CGM (n=3...

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...

ey0019.1-5 | Genetics | ESPEYB19

1.5. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

A Schanzer , MT Achleitner , D Trumbach , L Hubert , A Munnich , B Ahlemeyer , MM AlAbdulrahim , PA Greif , S Vosberg , B Hummer , RG Feichtinger , JA Mayr , SB Wortmann , H Aichner , S Rudnik-Schoneborn , A Ruiz , E Gabau , JP Sanchez , S Ellard , T Homfray , KL Stals , W Wurst , BA Neubauer , T Acker , SK Bohlander , C Asensio , C Besmond , FS Alkuraya , MD AlSayed , A Hahn , A Weber

Ann Neurol. 2021 Jul;90(1):143-158. doi: 10.1002/ana.26127. PMID: 33999436.Brief Summary: This study identifies biallelic HID1 variants in 7 patients with hypopituitarism and infantile encephalopathy. It provides genetic and functional evidence for a novel gene-disease connection and expands the list of central nervous system diseases caused by impairment of the trans-Golgi network.<p ...

ey0019.5-1 | Novel treatments for rare skeletal disorders | ESPEYB19

5.1. Targeting TGF-β for treatment of osteogenesis imperfecta

IW Song , SC Nagamani , D Nguyen , I Grafe , VR Sutton , FH Gannon , E Munivez , MM Jiang , A Tran , M Wallace , P Esposito , S Musaad , E Strudthoff , S McGuire , M Thornton , V Shenava , S Rosenfeld , S Huang , R Shypailo , E Orwoll , B Lee

J Clin Invest. 2022 Apr 1;132(7):e152571. doi: 10.1172/JCI152571.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/35113812/In brief: Currently, there is no disease-specific therapy for osteogenesis imperfecta (OI) where most children, of all forms of OI, with significant fracture history, are managed by bisphosphonates...

ey0019.10-9 | Advances in clinical practice | ESPEYB19

10.9. Comparison of insulin dose adjustments made by artificial intelligence based decision support system and by physicians in people with type 1 diabetes using multiple daily injections therapy

R Nimri , A Tirosh , I Muller , Y Shtrit , I Kraljević , MM Alonso , T Milicic , B Saboo , A Deeb , A Christoforidis , Brinker M den , L Bozzetto , AM Bolla , M Krcma , RA Rabini , S Tabba , A Vazeou-Gerasimidi , G Maltoni , E Giani , I Dotan , IF Liberty , Y Toledano , O Kordonouri , N Bratina , K Dovc , T Biester , E Atlas , M Phillip

Diabetes Technol Ther. 2022;24:564-572. doi: https://pubmed.ncbi.nlm.nih.gov/35325567/Brief Summary: This physician survey-based study compared insulin dose recommendations between an artificial intelligence-based decision support system (ED-DSS) and 20 experienced physicians from 11 countries. Using data from 17 individuals with type 1 diabetes (T1D) treated with multiple daily insulin inj...

ey0017.6-9 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.9. Loss-of-function variants in PPP1R12A: From isolated sex reversal to holoprosencephaly spectrum and urogenital malformations

JJ Hughes , E Alkhunaizi , P Kruszka , LC Pyle , DK Grange , SI Berger , KK Payne , D Masser-Frye , T Hu , MR Christie , NJ Clegg , JL Everson , AF Martinez , LE Walsh , E Bedoukian , MC Jones , CJ Harris , KM Riedhammer , D Choukair , PY Fechner , MM Rutter , SB Hufnagel , M Roifman , GB Kletter , E Delot , E Vilain , RJ Lipinski , CM Vezina , M Muenke , D Chitayat

To read the full abstract: Am J Hum Genet. 2020, Jan 2; 106: 121-8. doi: https://www.cell.com/ajhg/pdf/S0002-9297(19)30468-9.pdfProtein phosphatase 1, regulatory subunit 12a (PPP1R12A) is an important developmental factor involved in cell migration, adhesion, and morphogenesis. It is involved in the formation of myosin phosphatase and is regulated by phosphorylation.<p cla...

ey0017.9-2 | Fertility-Related Issues | ESPEYB17

9.2. Pregnancy, time to pregnancy and obstetric outcomes among female childhood cancer survivors: Results of the DCOG LATER-VEVO study

Dijk M Van , FE van Leeuwen , A Overbeek , CB Lambalk , MM van den Heuvel-Eibrink , W van Dorp , WJ Tissing , LC Kremer , JJ Loonen , B Versluys , D Bresters , CM Ronckers , HJ van der Pal , CCM Beerendonk , GJL Kaspers , E van Dulmen-den Broeder , MH van den Berg

To read the full abstract: J Cancer Res Clin Oncol. 2020 Jun;146(6):1451–1462. marloes.vandijk@amsterdamumc.nlChemo- and radiotherapy administered during childhood may compromise female reproductive function leading to premature depletion of the ovarian follicle pool. Childhood cancer survivors (CCS) women who pursue pregnancy may experience a lengthening of the time required to become pr...

ey0017.10-13 | (1) | ESPEYB17

10.13. Six-month randomized, multicenter trial of closed-loop control in type 1 diabetes

SA Brown , BP Kovatchev , D Raghinaru , JW Lum , BA Buckingham , YC Kudva , LM Laffel , CJ Levy , JE Pinsker , RP Wadwa , E Dassau , FJ 3rd Doyle , SM Anderson , MM Church , V Dadlani , L Ekhlaspour , GP Forlenza , E Isganaitis , DW Lam , C Kollman , RW Beck , iDCL Trial Research Group.

To read the full abstract: N Engl J Med. 2019 Oct 31;381(18):1707–1717. doi: 10.1056/NEJMoa1907863. PMID: 31618560Despite advances in diabetes care, attaining good glycemic outcomes in patients with type 1 diabetes (T1DM) remains challenging and often is not achieved. For example, the targets set by the American Diabetes Association are met in only a minority of patients. It is hoped th...

ey0016.2-17 | Vitamin D Supplementation in Pregnancy and Fetal and Infant Growth | ESPEYB16

2.17. Vitamin D supplementation in pregnancy and lactation and infant growth

DE Roth , SK Morris , S Zlotkin , AD Gernand , T Ahmed , SS Shanta , E Papp , J Korsiak , J Shi , MM Islam , I Jahan , FK Keya , AR Willan , R Weksberg , M Mohsin , QS Rahman , PS Shah , KE Murphy , J Stimec , LG Pell , H Qamar , A Al Mahmud

To read the full abstract: N Engl J Med. 2018 Aug 9;379(6):535–546.This study tested whether vitamin D supplementation from mid pregnancy to delivery or 6 months post-partum had an effect on length-for-age z scores at 1 year or on other anthropometric measures from birth to 1 year.Bangladesh is a resource poor country where approximately 30% of newbor...

ey0016.9-8 | Fertility Issues in Chronic Diseases: New Insights | ESPEYB16

9.8. Long-term effects of childhood cancer treatment on hormonal and ultrasound markers of ovarian reserve

MH van den Berg , A Overbeek , CB Lambalk , GJL Kaspers , D Bresters , MM van den Heuvel-Eibrink , LC Kremer , JJ Loonen , HJ van der Pal , CM Ronckers , WJE Tissing , AB Versluys , M van der Heiden-van der Loo , AC Heijboer , M Hauptmann , JWR Twisk , JSE Laven , CCM Beerendonk , FE van Leeuwen , E van Dulmen-den Broeder , DCOG LATER-VEVO Study Group

Hum Reprod. 2018 Jul 6. [Epub ahead of print]. doi: 10.1093/humrep/dey229Childhood cancer treatment may compromise ovarian function in female childhood cancer survivors (CCSs), leading to delayed or arrested puberty, infertility, subfertility and adverse pregnancy outcomes. This Dutch nationwide retrospective cohort study collected measurements performed between 2008 and 2...