ISSN 1662-4009 (online)

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):985–989.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...

ey0016.2-10 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB16

2.10. Association of gestational diabetes with maternal disorders of glucose metabolism and childhood adiposity

WL Jr Lowe , DM Scholtens , LP Lowe , A Kuang , M Nodzenski , O Talbot , PM Catalano , B Linder , WJ Brickman , P Clayton , C Deerochanawong , J Hamilton , JL Josefson , M Lashley , JM Lawrence , Y Lebenthal , R Ma , M Maresh , D McCance , WH Tam , DA Sacks , AR Dyer , BE Metzger , Follow-up Study Cooperative Research Group HAPO

JAMA. 2018 Sep 11;320(10):1005–1016. doi: 10.1001/jama.2018.11628.The aims of this study were to assess whether in utero exposure to untreated gestational diabetes (using the IADPSG criteria) is associated with long-term risk of a disorder of glucose metabolism among mothers and greater adiposity among their children at 10 to 14 years post-partum.The Hyperglycem...

ey0016.4-6 | Clinical Trials | ESPEYB16

4.6. rhIGF-1/rhIGFBP-3 in preterm Infants: A phase 2 randomized controlled trial

D Ley , B Hallberg , I Hansen-Pupp , C Dani , LA Ramenghi , N Marlow , K Beardsall , F Bhatti , D Dunger , JD Higginson , A Mahaveer , OJ Mezu-Ndubuisi , P Reynolds , C Giannantonio , M van Weissenbruch , N Barton , A Tocoian , M Hamdani , E Jochim , A Mangili , JK Chung , MA Turner , LEH Smith , A Hellstrom

To read the full abstract: J Pediatr. 2019;206:56–65.e8.IGF-I plays a key role in fetal growth and development [1]. IGF-I exerts pleiotropic effects including cell proliferation, survival and differentiation, but also influencing metabolism and angiogenesis.Very preterm newborns show a rapid decline serum IGF-I concentrations that remain low for the first week...

ey0016.5-14 | Basic Science - Growth Plate | ESPEYB16

5.14. A radical switch in clonality reveals a stem cell niche in the epiphyseal growth plate

PT Newton , L Li , B Zhou , C Schweingruber , M Hovorakova , M Xie , X Sun , L Sandhow , AV Artemov , E Ivashkin , S Suter , V Dyachuk , M El Shahawy , A Gritli-Linde , T Bouderlique , J Petersen , A Mollbrink , J Lundeberg , G Enikolopov , H Qian , K Fried , M Kasper , E Hedlund , I Adameyko , L Savendahl , AS Chagin

Abstract: Nature. 2019 Mar;567(7747):234–238.In brief: In this article, the authors present evidence that the murine epiphyseal growth plate develops a postnatal stem cell niche with monoclonal properties, that are able to self-renew. They thereby challenge the concept of a continous depletion of progenitor cells as a limiting factor for bone growth.<p class="abste...

ey0016.10-2 | (1) | ESPEYB16

10.2. Closed-loop insulin delivery in suboptimally controlled type 1 diabetes: a multicentre, 12-week randomised trial

Tauschmann Martin , Bally Hood Thabit Lia , Allen Janet M , Hartnell Sara , Wilinska Malgorzata E , Ruan Yue , Sibayan Judy , Kollman Craig , Cheng Peiyao , Beck Roy W , Acerini Carlo L , Evans Mark L , Dunger David B , Elleri Daniela , Campbell Fiona , Bergenstal Richard M , Criego Amy , Shah Viral N , Leelarathna Lalantha , Hovork Roman , APCam Consortium Roman

To read the full abstract: Lancet. 2018 Oct 13; 392(10155): 1321–1329The appearance of new technologies and treatment modalities are changing the fate of patients with diabetes. While until recently the global epidemic of type 1 diabetes (T1D) has been largely neglected (1), much data are being published on the impact of new technologies on metabolic control, quality of life and mic...

ey0016.10-20 | (1) | ESPEYB16

10.20. Reduced burden of diabetes and improved quality of life: Experiences from unrestricted day-and-night hybrid closed-loop use in very young children with type 1 diabetes

G Musolino , K Dovc , CK Boughton , M Tauschmann , JM Allen , Nagl , M Fritsch , J Yong , E Metcalfe , D Schaeffer , M Fichelle , U Schierloh , AG Thiele , D Abt , H Kojzar , JK Mader , S Slegtenhorst , N Ashcroft , ME Wilinska , J Sibayan , N Cohen , C Kollman , SE Hofer , E Frohlich-Reiterer , TM Kapellen , CL Acerini , C de Beaufort , F Campbell , B Rami-Merhar , R Hovorka , Kidsap Consortium

Pediatr Diabetes. 2019 May 29. doi: 10.1111/pedi.12872. [Epub ahead of print]There might be many benefits arising from the artificial pancreas and other new technologies to deliver insulin and measure glucose levels. Whether or not such technological advances will improve the lives of children and families needs to be answered.This study surveyed the experiences of parent...

ey0015.11-7 | New Developments in Monogenic Obesity | ESPEYB15

11.7 MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency

K Clément , H Biebermann , IS Farooqi , L Van der Ploeg , B Wolters , C Poitou , L Puder , F Fiedorek , K Gottesdiener , G Kleinau , N Heyder , P Scheerer , U Blume-Peytavi , I Jahnke , S Sharma , J Mokrosinski , S Wiegand , A Müller , K Weiß , K Mai , J Spranger , A Grüters , O Blankenstein , H Krude , P Kühnen

To read the full abstract: Nat Med 2018, May;24(5):551-555[Comments on 1.1, 1.5, 1.6 and 1.7] All four here presented articles have monogenic obesity as their theme. While patients with monogenic obesity are rare, these individuals bear a heavy disease burden. Furthermore, these...

ey0015.12-8 | New Mechanism (1) | ESPEYB15

12.8 Hyperglycemia drives intestinal barrier dysfunction and risk for enteric infection

CA Thaiss , M Levy , I Grosheva , D Zheng , E Soffer , E Blacher , S Braverman , AC Tengeler , O Barak , M Elazar , R Ben-Zeev , D Lehavi-Regev , MN Katz , M Pevsner-Fischer , A Gertler , Z Halpern , A Harmelin , S Aamar , P Serradas , A Grosfeld , H Shapiro , B Geiger , E Elinav

To read the full abstract: Science 2018;359:1376-1383The metabolic syndrome (MetS) is associated with dysfunctions of the intestinal barrier, leading to increased permeability and translocation of microbial molecules into the intestinal lamina propria and to circulation. The entry of pathogens through an impaired barrier leads to an increased risk of infection, as well as to chronic inflammation...

ey0015.15-6 | New treatments | ESPEYB15

15.6 Treatment of Endometriosis-Associated Pain with Elagolix, an Oral GnRH Antagonist

HS Taylor , LC Giudice , BA Lessey , MS Abrao , J Kotarski , DF Archer , MP Diamond , E Surrey , NP Johnson , NB Watts , JC Gallagher , JA Simon , BR Carr , WP Dmowski , N Leyland , JP Rowan , WR Duan , J Ng , B Schwefel , JW Thomas , RI Jain , K Chwalisz

To read the full abstract: N Engl J Med 2017;377:28-40We highlight this paper for 3 reasons. First, remarkably there are few robust data on effective treatment options for endometriosis. Subcutaneous GnRH antagonists are sometimes used off-label, but with very limited evidence. Secondly, the clear findings here confirm the pathogenesis of endometriosis as being driven by an over-act...