ESPE Yearbook of Paediatric Endocrinology

In Brief: The authors present ‘RETFound’, a self-supervised learning approach that has so far analysed 1.6 million retinal images to enable disease detection. RETFound shows good accuracy for diagnosis and prognosis of sight-threatening eye diseases. It also contributes to incident prediction of complex systemic disorders such as heart failure and myocardial infarction.The well-known saying ‘the eyes are the window to the soul’ means ...

Nature 2020; 583: 596–602https://www.nature.com/articles/s41586-020-2499-yIn order to understand the cellular processes that underlie ageing, the authors performed plasma proteomics at 10 different ages across the lifespan of the mouse. They integrated these data with a parallel large study published alongside this paper in the same edition (1), which describes the ‘Mouse ...

Brief Summary: This study significantly advances our understanding of the genetic underpinnings of congenital hypopituitarism (CH) by utilizing whole exome sequencing (WES) in a large cohort of patients from Argentina.CH is a complex and highly heterogeneous disorder that is associated with highly variable clinical phenotypes that range in severity (1). The aetiology of CH may extend beyond monogenic causes, involving oligogenic, polygenic, or multifacto...

J Clin Invest. 2022 Apr 1;132(7):e152571. doi: 10.1172/JCI152571.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/35113812/In brief: Currently, there is no disease-specific therapy for osteogenesis imperfecta (OI) where most children, of all forms of OI, with significant fracture history, are managed by bisphosphonates...

Nat Med. 2022;28(4):814-22. doi: 10.1038/s41591-022-01714-5.PubMed ID: 35314841Brief summary: This study performed large-scale metabolomic profiling across 14 000 adults from 4 cohorts and identified 17 steroid metabolites whose levels were reduced in individuals with prevalent asthma. The largest reductions were associated with inhaled corticosteroid (ICS) treatment, and these were valida...

To read the full abstract: N Engl J Med. 2020 Feb 6;382(6):534–544. PMID: 32023373Neonatal hypoglycaemia is one of the most common biochemical findings in the newborn period and is an important cause of brain injury. However, despite being so common there is no consensus regarding the glucose threshold concentration at which treatment for asymptomatic neonatal hypoglycemia sho...

To read the full abstract: Nat Commun. 2020;11:1343.Li et al. describe a new genetic mechanism causing Pendred syndrome and extend evidence for an oligogenic origin of congenital hypothyroidism (CH). Autosomal recessive mutations in Pendrin (PDS/SCL26A4 ) were described in 1997 to cause Pendred syndrome [1]. However, over the years patients with either only heterozygous or even no mutation in PDS/SLC26A4 have been diag...

To read the full abstract: JAMA. 2019;322(6):514–523. doi: 10.1001/jama.2019.10329Some children have a high genetic risk to develop type 1 diabetes (T1DM) and/or celiac disease. However, environmental factors may modify such risks. One arm of the TEDDY study assessed the influence of high gluten intakes on the development of celiac disease in genetically high risk children.<p clas...

Nature 2019;567:187–193.URL https://doi.org/10.1038/s41586-019-0984-ySummary: Novel diagnostic and prognostic biomarkers in the blood that can predict early fatty liver disease were identified, using a proteomic and lipidomic-wide systems genetic approach in 107 genetically distinct mouse strains. In addition, the novel lipid-regulatory protein, PSMD9, was identified as...

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...