ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Pediatr Diabetes. 2018;19:1302–1308.Diabetes education includes nutritional education and the provision of practical guidelines as to the interrelation between insulin requirements and carbohydrate intake. Carbohydrate (CHO) counting has therefore been a recommended daily practice to help patients to manage blood glucose levels in type 1 diabetes (T1D). Ev...

Cell metabolism 2022;34(2):329-45.e8. doi: 10.1016/j.cmet.2021.12.016Brief Summary: In a mouse model, time of exercise during the day was found to determine the magnitude and type of metabolic response. Different tissues responded to exercise at different times of the day.Comment: Exercise is considered a vital intervention in the prevention and treatment of individu...

To read the full abstract: Science 2020; 367(6484):eaay5012.These authors sequenced 929 whole-genome sequences from 54 geographically, linguistically, and culturally diverse human populations, as part of the Human Genome Diversity Project, a panel of global populations. The data represent African, Oceanian, and American-Indian populations. They identified 67.3 million single-nucleotide polymorphisms (SNPs), 8.8 million small insertions or deleti...

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...