ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 14 of about 186 results

ey0020.5-12 | Basic Research | ESPEYB20

5.12. Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism

L Cotellessa , F Marelli , P Duminuco , M Adamo , GE Papadakis , L Bartoloni , N Sato , M Lang-Muritano , A Troendle , WS Dhillo , A Morelli , G Guarnieri , N Pitteloud , L Persani , M Bonomi , P Giacobini , V Vezzoli

Brief summary: Using a combination of expression studies in human embryos as well as functional studies in zebrafish and genetic sequencing of patient with congenital hypogonadotropic hypogonadism, this study identified a novel role for Jag1/Notch signaling in the development of GnRH neurons.GnRH neurons have a unique characteristic as they start life in the olfactory placode and then migrate into the hypothalamus during embryonic development, thanks to ...
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ey0020.8-16 | New Hopes | ESPEYB20

8.16. Engineering the lymph node environment promotes antigen-specific efficacy in type 1 diabetes and islet transplantation

JM Gammon , ST Carey , V Saxena , HB Eppler , SJ Tsai , C Paluskievicz , Y Xiong , L Li , M Ackun-Farmmer , LH Tostanoski , EA Gosselin , AA Yanes , X Zeng , RS Oakes , JS Bromberg , CM Jewell

Brief summary: In this experimental study, immunomodulatory microparticles, consisting of encapsulating self-antigens with rapamycin, were injected into mouse lymph nodes to protect against type 1 diabetes (T1D) and islet graft rejection. Antigens and rapamycin were both required for maximal efficacy and they induced durable tolerance, accompanied by expansion of antigen-specific regulatory T cells (Treg) in both treated and untreated lymph nodes.Antigen...
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ey0020.12-12 | Food for Thought | ESPEYB20

12.12. Associations between infant screen use, electroencephalography markers, and cognitive outcomes

EC Law , MX Han , Z Lai , S Lim , ZY Ong , V Ng , LJ Gabard-Durnam , CL Wilkinson , AR Levin , A Rifkin-Graboi , LM Daniel , PD Gluckman , YS Chong , MJ Meaney , CA Nelson

Brief summary: In the prospective population-based Growing Up in Singapore Toward Healthy Outcomes (GUSTO) study (n=437 children, 51.9% boys), the effect of parent-reported screen time in infancy was tested on EEG characteristics and correlated to cognitive outcome. Mean daily screen time at 12 months of age was 2 hours. Infant screen time was associated with altered cortical EEG activity at 18 months and was suggested to explain observed alterations in attention and ...
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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 ...
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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...
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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...
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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 ...
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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...
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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 ...
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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 ...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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