ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Diabetes Care. 2020 Mar;43(3):526–533. doi: 10.2337/dc19-1013. Epub 2020 Jan 13. PMID:31932458Neonatal diabetes mellitus (NDM) is defined as diabetes that develops in the first 6 months of age. In Western countries, the most common causes of NDM are activating mutations in the KCNJ11/ABCC8 genes. Neurological dysfunction is also common (up to 30%) in pati...

Brief summary: Over the last decades changing incidences for autoimmune diseases have been observed. However, no data are available so far on long-term trends, incidence over the whole age spectrum (child, adults, geriatric patients), and incidence of co-occurrence of the different autoimmune diseases. The presented study provides an extensive population-based cohort study performed in the UK.The authors used electronic health care records of 22 million ...

To read the full abstract: J Clin Endocrinol Metab. 2017 Jul 1;102(7):2584-2594Maternal obesity and nutrient excess in utero increase the risk of future metabolic diseases. The mechanisms underlying this process are poorly understood, but probably include genetic, epigenetic alterations and changes in fetal nutrient supply. Placenta, and particularly amniotic fluid, is the in utero ...

To read the full abstract: Nat Med. 2019 Mar;25(3):439–447.Prenatal screening for trisomy 21, trisomy 18, trisomy 13, and sex chromosome aneuploidies can be performed using next-generation sequencing of cell-free DNA (cfDNA) in the maternal circulation. This article describes a new non-invasive prenatal screening (NIPS) approach for the detection of de novo or paternally inheri...