ESPE Yearbook of Paediatric Endocrinology

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...

To read the full abstract: Trends in Ecology & Evolution, 2018. 33 (8); 582–594.This opinion piece argues that Homo sapiens evolved within interlinked groups living across Africa, and not in a single region of East Africa. Millennia of separation gave rise to diversity of human forms, and a complex mix of archaic and modern features in different places and...

To read the full abstract: N Engl J Med 2018;379:428–439In this multi-centre cohort of 156 patients with hypotonic polyuria, direct measurement of hypertonic saline-stimulated plasma copeptin had much greater diagnostic accuracy than a standard water-deprivation test, as judged by the final reference diagnosis, which was determined on the basis of medical history, test result...

To read the full abstract: Cell. 2018 Dec 13;175(7):1756–1768.e17.Irisin, a cytokine secreted by muscle during exercise, effects bone resorption and the differentiation of preadipocytes into thermogenic brown fat cells by displacing tethers between the cell and extracellular matrix molecules. Physical activity can reverse age-dependent decline in skeletal muscle, preventing osteopor...

To read the full abstract: J Clin Endocrinol Metab 2018; 103:917-925SGA is often defined as a birth weight and/or length < −2 SDS for gestational age and gender [43]. A frequent cause of SGA is fetal growth restriction (FGR), often associated with perinatal mortality and morbidity and also implicated in a higher risk of cardio-metabolic disease in adulthood. ...

To read the full abstract: Science 2018;360:1087-1092During the Cardiovascular Risk Survey in western China, a Kazakh family with inherited low levels of LDL-C was identified. The Kazakhs are mainly descendent from the Turkic and medieval Mongol peoples, they live in isolated regions and usually marry within their own ethnic group. They exhibit often unique differences in single nucleotide vari...

Brief summary: This study reports data from the full Kabi/Pfizer International Growth Database (KIGS), a large international database including 83803 children treated with rhGH for GHD and non-GHD conditions. The data confirm that rhGH is effective in increasing short-term height gain and adult height in various conditions and validate rhGH safety, with no new serious adverse events reported.KIGS (Kabi/Pfizer International Growth Database), first establi...

Brief summary: This open-label extension trial enrolled all subjects completing the two previous phase 3 Lonapegsomatropin trials, heiGHt and fliGHt. The results confirm the efficacy of this LAGH formulation in improving height SDS, without major adverse events.Lonapegsomatropin is a long-acting GH consisting of 3 components: unmodified human GH (hGH), an inert glycol carrier, and a TransCon linker that transiently binds the other 2 components. The glyco...

Brief summary: This paper describes consensus expert recommendations for the diagnosis and management of patients with Adrenoleukodystrophy.Adrenoleukodystrophy (ALD), a progressive metabolic disorder with variable and unpredictable clinical course, is caused by pathogenic variants in ABCD1 gene leading to deficient β-oxidation of saturated very-long-chain fatty acids (VLCFAs) (1, 2). Patients are asymptomatic at birth but ...

Brief summary: Using in-depth multi-omics analyses of human type 1 diabetes (T1D) samples, the authors profiled gut microbial functional and metabolic alterations. The T1D microbiota showed decreased butyrate production and bile acid metabolism and increased lipopolysaccharide (LPS) biosynthesis. Fecal microbiota transplantation in animal models proved that T1D gut microflora is a causative factor in the regulation of glucose metabolism.The etiology of T...