ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 23 of about 279 results

ey0019.10-3 | Clinical Trials | ESPEYB19

10.3. Randomized trial of closed-loop control in very young children with type 1 diabetes

J Ware , JM Allen , CK Boughton , ME Wilinska , S Hartnell , A Thankamony , Beaufort C de , U Schierloh , E Frohlich-Reiterer , JK Mader , TM Kapellen , B Rami-Merhar , M Tauschmann , K Nagl , SE Hofer , FM Campbell , J Yong , KK Hood , J Lawton , S Roze , J Sibayan , J Bocchino , C Kollman , R Hovorka , Consortium KidsAP

N Engl J Med. 2022 Jan 20;386(3):209-219. https://pubmed.ncbi.nlm.nih.gov/35045227/Brief Summary: This multicenter, randomized, crossover trial in 74 very young children (age: 1-7 years) with type 1 diabetes (T1D) tested the safety and efficacy of a hybrid closed-loop system for insulin delivery (CamAPS FX) compared with sensor-augmented pump therapy over 16 weeks. The hybrid closed-loop sy...
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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...
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ey0019.14-7 | Steroidogenesis and beyond | ESPEYB19

14.7. Placental uptake and metabolism of 25(OH)vitamin D determine its activity within the fetoplacental unit

B Ashley , C Simner , A Manousopoulou , C Jenkinson , F Hey , JM Frost , FI Rezwan , CH White , EM Lofthouse , E Hyde , LDF Cooke , S Barton , P Mahon , EM Curtis , RJ Moon , SR Crozier , HM Inskip , KM Godfrey , JW Holloway , C Cooper , KS Jones , RM Lewis , M Hewison , SDD Garbis , MR Branco , NC Harvey , JK Cleal

eLife 2022;11:e71094 doi: 10.7554/eLife.71094Brief summary: Using placental perfusion, placental fragment culture and primary term human cytotrophoblast culture experiments, the authors signify the relationship between maternal vitamin D, placental vitamin D metabolism and fetal vitamin D exposure.In this study, the uptake of radio-labelled vitamin D (13C-25(OH)D...
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ey0017.2-9 | Neonatal Diabetes Mellitus | ESPEYB17

2.9. Long-term metabolic and socio educational outcomes of transient neonatal diabetes: A longitudinal and cross-sectional study

F Le Bourgeois , Baz B Beltrand J , Riveline JP Julla JB , A Simon , I Flechtner , M Ait Djoudi , AL Fauret-Amsellem , Y Vial , R Scharfmann , J Sommet , P Boudou , H Cave , M Polak , JF Gautier , KTNDM Long-Term Follow-Up Study Group Busiah

To read the full abstract: Diabetes Care. 2020 Apr 9. pii: dc190324. doi: 10.2337/dc19-0324. [Epub ahead of print]. PMID: 32273272TransientNeonatalDiabetes (TNDM) develops in the first six months of life, and then remits only to relapse again during adolescence and adulthood. The three main genetic causes of TNDM are: 1) 6q24 abnormalities, 2) activating mutations in genes encoding the ATP-sensi...
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ey0017.2-11 | Updates on the Genetics of Neonatal Diabetes Mellitus, Congenital Hyperinsulinism and Glucose Disorders | ESPEYB17

2.11. Update of variants identified in the pancreatic [beta]-cell KATPchannel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

E De Franco , C Saint-Martin , K Brusgaard , AE Knight Johnson , L Aguilar-Bryan , P Bowman , JB Arnoux , AR Larsen , S May , Saw Greeley , R Calzada-Leon , B Harman , JAL Houghton , Nishimura-Meguro , TW Laver , S Ellard , D Del Gaudio , HT Christesen , C Bellanne-Chantelot , SE Flanagan

To read the full abstract: Hum Mutat. 2020 May;41(5):884–905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. PMID: 32027066Pancreatic KATPchannels play a key role in regulating insulin secretion. These channels are composed of four subunits of SUR1 and four subunits of KIR6.2 encoded by the ABCC8 and KNCJ11 genes, respectively. Inactivating mutations in these two g...
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ey0017.3-10 | New genes | ESPEYB17

3.10. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

B Rivera , J Nadaf , S Fahiminiya , M Apellaniz-Ruiz , A Saskin , AS Chong , S Sharma , R Wagener , T Revil , V Condello , Z Harra , N Hamel , N Sabbaghian , K Muchantef , C Thomas , L de Kock , MN Hebert-Blouin , AV Bassenden , H Rabenstein , O Mete , R Paschke , MP Pusztaszeri , W Paulus , A Berghuis , J Ragoussis , YE Nikiforov , R Siebert , S Albrecht , R Turcotte , M Hasselblatt , MR Fabian , WD Foulkes

To read the full abstract: J Clin Invest. 2020;130:1479–1490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...
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ey0017.4-12 | New paradigms | ESPEYB17

4.12. IGSF1 Deficiency results in human and murine somatotrope neurosecretory hyperfunction

SD Joustra , F Roelfsema , ASP van Trotsenburg , HJ Schneider , RP Kosilek , HM Kroon , JG Logan , NC Butterfield , X Zhou , C Toufaily , B Bak , MO Turgeon , E Brule , FJ Steyn , M Gurnell , O Koulouri , P Le Tissier , P Fontanaud , JHD Bassett , GR Williams , W Oostdijk , JM Wit , AM Pereira , NR Biermasz , DJ Bernard , N Schoenmakers

To read the full abstract: J Clin Endocrinol Metab, March 2020, 105(3):e70–e84A cohort of 21 adult males (aged 19 to 89 years) harboring hemizygous pathogenic IGSF1 gene mutations underwent anthropometry, endocrine testing, testis ultrasonography, and body composition assessment to define the pathophysiological role of IGSF1 in influencing GH secretion. In addition, two lines of Igsf1 -deficient male mice were use...
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ey0017.5-1 | Novel Treatments for Rare Skeletal Disorders | ESPEYB17

5.1. C-Type natriuretic peptide analogue therapy in children with achondroplasia

R Savarirayan , M Irving , CA Bacino , B Bostwick , J Charrow , V Cormier-Daire , KH Le Quan Sang , P Dickson , P Harmatz , J Phillips , N Owen , A Cherukuri , K Jayaram , GS Jeha , K Larimore , ML Chan , A Huntsman Labed , J Day , J Hoover-Fong

To read the full abstract: N Engl J Med. 2019 Jul 4;381(1):25–35.In brief: Inhibition of endochondral ossification in Achondroplasia leads to disproportionate short stature. In this phase 2 study, daily subcutaneous injection of vosoritide, a biologic analogue of C-type natriuretic peptide and a potent stimulator of endochondral ossification, results in sustained increase in t...
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ey0017.5-12 | Advances in Skeletal Biology | ESPEYB17

5.12. Lipid availability determines fate of skeletal progenitor cells via SOX9

N van Gastel , S Stegen , G Eelen , S Schoors , A Carlier , VW Daniels , N Baryawno , D Przybylski , M Depypere , PJ Stiers , D Lambrechts , R Van Looveren , S Torrekens , A Sharda , P Agostinis , D Lambrechts , F Maes , JV Swinnen , L Geris , H Van Oosterwyck , B Thienpont , P Carmeliet , DT Scadden , G Carmeliet

To read the full abstract: Nature 2020;579:111–117.In brief: In large fracture calluses, skeletal progenitors activate the chondrogenesis program, whereas in smaller calluses, direct osteogenesis is the preferred path. Here, the authors show that lipid availability determines whether skeletal stem cells repair a fracture through endochondral bone formation or direct ossificati...
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ey0017.6-8 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.8. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

K McElreavey , A Jorgensen , C Eozenou , T Merel , J Bignon-Topalovic , DS Tan , D Houzelstein , F Buonocore , N Warr , RGG Kay , M Peycelon , JP Siffroi , I Mazen , JC Achermann , Y Shcherbak , J Leger , A Sallai , JC Carel , L Martinerie , R Le Ru , GS Conway , B Mignot , L Van Maldergem , R Bertalan , E Globa , R Brauner , R Jauch , S Nef , A Greenfield , A Bashamboo

To read the full abstract: Genet Med. 2020, Jan; 22: 150-9. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/pdf/41436_2019_Article_606.pdfMassive parallel sequencing of 145 46,XY DSD patients revealed 13 individuals with heterozygous missense pathogenic variants in the RNA helicase DHX37, explaining 11% of cases of 46,XY gonadal d...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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