ESPE Yearbook of Paediatric Endocrinology

PLoS One. 2022 Feb 18;17(2):e0258054. doi: 10.1371/journal.pone.0258054. PMID: 35180212.Brief Summary: This mouse model of diabetes describes how early administration of sodium glucose transporter 2 (SGLT2) inhibitors can protect pancreatic beta-cells from glucotoxicity damage. Early use of SGLT2 inhibitors can revert/prevent beta-cell failure in mice with diabetes due to KATP channel de...

Proc Natl Acad Sci U S A. 2021 Nov 9;118(45):e2109721118. doi: 10.1073/pnas.2109721118. PMID: 34732576.Brief Summary: In a mouse model of KATP neonatal diabetes mellitus, this study examined the mechanisms of cognitive deficits and development delay observed in some patients with this form of diabetes. The cognitive deficits and development delay appeared to be independent of the diabetes per...

Diabetes. 2022 1;71(6):1233-1245. doi: 10.2337/db21-0992. PMID: 35294000.Brief Summary: This mouse model of diabetes tested the hypothesis that reducing the metabolic flux (rate of metabolism) in the beta cell can prevent beta-cell failure and preserve beta-cell mass. Reducing glucose metabolism may be a mechanism for preventing glucotoxicity-induced loss of functional beta-cell mass in diabetes. <...

To read the full abstract: PLoS Med. 2019 Oct 1;16(10):e1002926. doi: 10.1371/journal.pmed.1002926.The authors analysed a huge dataset from the Chinese national programme of preconception health checks, which include measurements of fasting plasma glucose. Overall, 13.15% (n =847,737) had impaired fasting glucose and 1.18% (n =76,297 women) had diabetes, of whom only...

Brief summary: This collaborative study identified 13 monoallelic rare loss-of-function (LoF) variants in the serotonin 2C receptor (HTR2C) gene in 19 unrelated individuals with hyperphagia, severe early-onset obesity, and some degree of maladaptive behaviour. The authors used exome sequencing in 2548 individuals with severe obesity and 1117 control individuals without obesity. They found that HTR2C variants cause monogenic obesity by demonstrating t...