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...

ey0018.2-9 | Neonatal diabetes mellitus | ESPEYB18

2.9. Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.

R Bonfanti , D Iafusco , I Rabbone , G Diedenhofen , C Bizzarri , PI Patera , P Reinstadler , F Costantino , V Calcaterra , L Iughetti , S Savastio , A Favia , F Cardella , D Lo Presti , Y Girtler , S Rabbiosi , G D'Annunzio , A Zanfardino , A Piscopo , F Casaburo , L Pintomalli , L Russo , V Grasso , N Minuto , M Mucciolo , A Novelli , A Marucci , B Piccini , S Toni , F Silvestri , P Carrera , A Rigamonti , G Frontino , M Trada , D Tinti , M Delvecchio , N Rapini , R Schiaffini , C Mammi , F Barbetti

Eur J Endocrinol. 2021 Apr;184(4):575–585. doi: 10.1530/EJE-20-1030. PMID: 33606663.These authors examined the likelihood of remission of diabetes without pharmacological therapy in a retrospective analysis of 34 Italian patients with Transient neonatal diabetes (TNDM).TNDM is a type of neonatal diabetes that remits within the first a few months of life. It is most ...

ey0018.3-1 | Mechanism of the year | ESPEYB18

3.1. Radiation-related genomic profile of papillary thyroid carcinoma after the Chernobyl accident

LM Morton , DM Karyadi , C Stewart , TI Bogdanova , ET Dawson , MK Steinberg , J Dai , SW Hartley , SJ Schonfeld , JN Sampson , YE Maruvka , V Kapoor , DA Ramsden , J Carvajal-Garcia , CM Perou , JS Parker , M Krznaric , M Yeager , JF Boland , A Hutchinson , BD Hicks , CL Dagnall , JM Gastier-Foster , J Bowen , O Lee , MJ Machiela , EK Cahoon , AV Brenner , K Mabuchi , V Drozdovitch , S Masiuk , M Chepurny , LY Zurnadzhy , M Hatch , A Berrington de Gonzalez , GA Thomas , MD Tronko , G Getz , SJ Chanock

Science. 2021;372(6543):eabg2538. doi: 10.1126/science.abg2538.Radioactive iodine (131I)-exposed children in the region of Chernobyl (Ukraine) showed an increased incidence of papillary thyroid carcinoma (PTC) after the 1986 nuclear plant accident [1]. This so far the largest and most comprehensive study to characterize the genomic landscape of radiation induced PTC in a large n...

ey0020.5-8 | Clinical Guidance and Studies | ESPEYB20

5.8. GnRH replacement rescues cognition in Down syndrome

M Manfredi-Lozano , V Leysen , M Adamo , I Paiva , R Rovera , JM Pignat , FE Timzoura , M Candlish , S Eddarkaoui , SA Malone , MSB Silva , S Trova , M Imbernon , L Decoster , L Cotellessa , M Tena-Sempere , M Claret , A Paoloni-Giacobino , D Plassard , E Paccou , N Vionnet , J Acierno , AM Maceski , A Lutti , F Pfrieger , S Rasika , F Santoni , U Boehm , P Ciofi , L Buee , N Haddjeri , AL Boutillier , J Kuhle , A Messina , B Draganski , P Giacobini , N Pitteloud , V Prevot

Brief summary: This study identified a new role for GnRH in higher brain function using a rodent model of Down Syndrome. It reports for the first time an improvement of cognitive functions in patients with Down Syndrome treated with pulsatile GnRH.GnRH neurons are classically described as a population of neurons located in the hypothalamus and responsible for the activation and regulation of the hypothalamic-pituitary-gonadal axis. However, the recent de...

ey0020.6-7 | Clinical Trials – New Treatments | ESPEYB20

6.7. [11C]metomidate PET-CT versus adrenal vein sampling for diagnosing surgically curable primary aldosteronism: A prospective, within-patient trial

X Wu , R Senanayake , E Goodchild , WA Bashari , J Salsbury , CP Cabrera , G Argentesi , SM O'Toole , M Matson , B Koo , L Parvanta , N Hilliard , V Kosmoliaptsis , A Marker , DM Berney , W Tan , R Foo , CA Mein , E Wozniak , E Savage , A Sahdev , N Bird , K Laycock , I Boros , S Hader , V Warnes , D Gillett , A Dawnay , E Adeyeye , A Prete , AE Taylor , W Arlt , AN Bhuva , F Aigbirhio , C Manisty , A McIntosh , A McConnachie , JK Cruickshank , H Cheow , M Gurnell , WM Drake , MJ Brown

Brief summary: This study validates dexamethasone-suppressed [11C]metomidate positron emission tomography computed tomography (MTO) scanning as a CYP11B2-selective investigation for lateralizing PA.Primary aldosteronism (PA) is the most common single cause of hypertension, accounting for 5–14% of all cases and 20–25% of treatment-resistant hypertension (1, 2). Traditionally, patients with PA are divided equally into ...

ey0018.2-11 | Neonatal diabetes mellitus | ESPEYB18

2.11. YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

E De Franco , M Lytrivi , H Ibrahim , H Montaser , MN Wakeling , F Fantuzzi , K Patel , C Demarez , Y Cai , M Igoillo-Esteve , C Cosentino , V Lithovius , H Vihinen , E Jokitalo , TW Laver , MB Johnson , T Sawatani , H Shakeri , N Pachera , B Haliloglu , MN Ozbek , E Unal , R Yıldırım , T Godbole , M Yildiz , B Aydin , A Bilheu , I Suzuki , SE Flanagan , P Vanderhaeghen , V Senee , C Julier , P Marchetti , DL Eizirik , S Ellard , J Saarimaki-Vire , T Otonkoski , M Cnop , AT Hattersley

J Clin Invest. 2020 Dec 1;130(12):6338–6353. doi: 10.1172/JCI141455. PMID: 33164986.This manuscript describes a novel disorder due to homozygous mutations in the YIPF5 gene which cause a complex syndrome of neonatal/early onset diabetes mellitus, epilepsy and microcephaly. The underlying mechanism of the diabetes involves the accumulation of proinsulin (unable to be transported to the Golgi...

ey0018.1-7 | Development/Ontogeny | ESPEYB18

1.7. Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

A Gualtieri , N Kyprianou , LC Gregory , ML Vignola , JG Nicholson , R Tan , SI Inoue , V Scagliotti , P Casado , J Blackburn , F Abollo-Jimenez , E Marinelli , REJ Besser , W Hogler , I Karen Temple , JH Davies , A Gagunashvili , ICAF Robinson , SA Camper , SW Davis , PR Cutillas , EF Gevers , Y Aoki , MT Dattani , C Gaston-Massuet

Nat Commun. 2021 Apr 1;12(1):2028. doi: 10.1038/s41467-021-21712-4. PMID: 33795686.The authors describe 5 patients with Cardio-Facio-Cutaneous (CFC) syndrome with features of septo−optic dysplasia (SOD), and GH/IGF−1 deficiency of variable degree. All were identified to carry a gain−of−function mutation in BRAF.RASopathies encompass Noonan ...

ey0018.3-8 | Congenital hypothyroidism | ESPEYB18

3.8. Congenital hypothyroidism: A 2020-2021 consensus guidelines update-An ENDO-European Reference Network initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

P van Trotsenburg , A Stoupa , J Leger , T Rohrer , C Peters , L Fugazzola , A Cassio , C Heinrichs , V Beauloye , J Pohlenz , P Rodien , R Coutant , G Szinnai , P Murray , B Bartes , D Luton , M Salerno , L de Sanctis , M Vigone , H Krude , L Persani , M Polak

Thyroid. 2021:387–419. doi: 10.1089/thy.2020.0333.These updated ENDO-European Reference Network (ENDO-ERN), European Society for Paediatric Endocrinology (ESPE) and European Society for Endocrinology (ESE) guidelines for congenital hypothyroidism will serve as comprehensive review of the literature providing recommendations to all aspects of the disease.The first ...

ey0018.7-10 | Basic Science | ESPEYB18

7.10. Central ceramide signaling mediates obesity-induced precocious Puberty

V Heras , JM Castellano , D Fernandois , I Velasco , E Rodriguez-Vazquez , J Roa , MJ Vazquez , F Ruiz-Pino , M Rubio , R Pineda , E Torres , MS Avendano , A Paredes , L Pinilla , D Belsham , C Dieguez , F Gaytan , N Casals , M Lopez , M Tena-Sempere

Cell Metab. 2020 Dec 1;32(6):951–966.e8. 10.1016/j.cmet.2020.10.001. PMID: 33080217. https://www.sciencedirect.com/science/article/pii/S1550413120305349?via%3DihubIn brief: This study reveals the critical role of hypothalamic ceramide synthesis in the induction of precocious puberty in obe...

ey0018.9-1 | Cancer treatment and the risk of second neoplasia | ESPEYB18

9.1. Risk factors of subsequent central nervous system tumors after childhood and adolescent cancers: findings from the french childhood cancer survivor study

NMY Journy , WS Zrafi , S Bolle , B Fresneau , C Alapetite , RS Allodji , D Berchery , N Haddy , I Kobayashi , M Labbe , H Pacquement , C Pluchart , B Schwartz , V Souchard , C Thomas-Teinturier , C Veres , G Vu-Bezin , I Diallo , F de Vathaire

Cancer Epidemiol Biomarkers Prev. 2021; 30: 133–141. https://pubmed.ncbi.nlm.nih.gov/33033142/This retrospective study of 152 patients and 604 matched-controls within the FCCSS (French Childhood Cancer Survivor Study) cohort aimed to identify clinical and therapeutic factors associated with long-term risk of subsequent primary neoplasm (SPN) in the central nervous system (CNS), occurri...