ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This prospective, pragmatic, open-label study assessed the impact of a systematic and equitable digital-health-team-based care program designed to achieve tight glycemic targets (HbA1c <7%) through early technology use and remote patient monitoring, in young people with newly diagnosed T1D. The program was successful: 68% of participants achieved target HbA1c, and an average 65% time in glucose range at one-year post-diagnosis.Despite ...

Brief Summary: This study explored the potential causal pathways underlying the association between childhood-onset T1D and subsequent psychiatric disorders, using data from a Czech national register of 4,500 children (age ≤14 years) with type 1 diabetes (T1D) and large-scale European genetic studies. Children diagnosed with T1D had an elevated risk of developing substance use, mood, anxiety and personality disorders, and behavioural syndromes. In contrast, they had a lo...

Brief Summary: This study tested a new biosensor, named depth-gated mid-infrared optoacoustic sensor (DIROS), which uses intravital mid-infrared optoacoustic signals, for accurate non-invasive measurement of glucose concentrations in blood-rich volumes of the skin. DIROS provided in-blood glucose measurements with better accuracy and sensitivity than methods that measured glucose in the interstitial fluid.Non-invasive glucose monitoring is an attractive ...

Brief Summary: This observational study assessed the association between metabolic syndrome (MetS) and its components with structural neuroimaging outcomes and cognitive domains in 37,395 dementia-free adults from the UK Biobank. MetS was associated with poorer brain health, characterized by reduced brain volume, increased vascular pathology, and diminished cognitive function.Comment: MetS is characterized by the cluster of central obesity, hypertension,...

Matrix Biol. 2020 Aug;90:40–60 Abstract: https://pubmed.ncbi.nlm.nih.gov/32173581/In brief: Mutations in 3-hydroxylation complex genes CRTAP and P3H1 cause osteogenesis imperfecta type VII and VIII, respectively. However, the pathogenic mechanism by which these mutations cause disease remains unclear. This study points to a defective chaperone role of the 3-h...

Cardiovasc Diabetol. 2020 Oct 6;19(1):168. 10.1186/s12933-020-01143-z. PMID: 33023586.In brief: The impact of immigration on the risk of early-onset T2DM (before age 40 years) was assessed in a nationwide cohort. Data on 93 806 native Israelis and 27 684 Israelis of Ethiopian origin, assessed at a mean age 17.5 years, were linked to the Israeli National Diabetes Registry. After adjustment fo...

Nature 2021; 592: 80–85https://www.nature.com/articles/s41586-021-03345-1These authors performed whole-genome sequencing (WGS) of 86 bulk placental samples and of 106 microdissections of placental tissue in order to reconstruct the development of human placental cells from data on somatic mutations. They found that the placenta comprises of multiple very large, genetically dis...

J Clin Endocrinol Metab. 2021 Sep 27;106(10):e3990-e4006. doi: 10.1210/clinem/dgab412. PMID: 34105732Brief Summary: This observational monocenter study analyzed cognitive scores of children with permanent (n=28, with athyreosis, ectopy or hypoplasia) vs. transient (n=11, with thyroid gland in situ) congenital hypothyroidism (CH) compared to healthy children (‘controls&#1...

Reprod Sci. 2022 Jan;29(1):260-269. PMID: 33788173, doi: 10.1007/s43032-021-00561-y. Brief Summary: This study from Israel investigated semen samples from 26 transgender girls aged 14-18 years and notes a general reduction in semen quality parameters. Fertility counselling is mandatory in all transgender adolescents prior to considering hormone interventions, but in ...

To read the full abstract: J Clin Endocrinol Metab. 2020 Mar 1;105(3). pii: dgz216. doi: 10.1210/clinem/dgz216. PMID: 31769495.Septo-optic dysplasia (SOD) involves a combination of midline brain defects, pituitary hormone deficiency, and optical nerve hypoplasia. The etiology of SOD is multifaceted; genetic factors are known to play a role, yet the vast majority of SOD patients remain withou...