ESPE Yearbook of Paediatric Endocrinology

Brief summary: This ‘Letter to the Editor’ provides a critical review on how behavioural and physiological aspects of type 1 diabetes (T1D) and its management can interfere with standard principles of good quality and duration of sleep.Quality of sleep is important for general human functioning, cognitive performance, emotional well-being, as well as immune function and cardiovascular health (1). The benefits of optimal sleep apply to everyone ...

Brief summary: This retrospective study describes a marked increase in the survival of children and youth living with Type 1 diabetes mellitus (T1D) in Tanzania, before (1991–2004), during (2005–2010) and after (2011–2019) implementation of the Life For A Child (LFAC) and Changing Diabetes in Children (CDiC) programs.This article focuses specifically on diabetes-related mortality. It offers both a message of hope and a candid examination o...

In Brief: The authors report the largest genetic study to date of Type 2 diabetes (T2D), pooling genome-wide association study (GWAS) data from 2 535 601 individuals (39.7% non-European ancestry), including 428 452 T2D cases. They identified 1289 independent association signals at genome-wide significance (P<5×10−8). These T2D GWAS signals could be separated into eight nonoverlapping clusters, characterised by distinct cardiometabolic disease...

To read the full abstract: Nature 2017;550:255-259Loss of appetite, and even aversion to food, is a common experience during periods of illness (e.g. infection and pyrexia) and/or treatment (e.g. chemotherapy). This responses is distinct from the body’s homeostatic mechanisms (the hypothalamic leptin receptor-AGRP-POMC-MC4R axis), which normally regulate appetite and weight gain in ch...

Diabetes Care. 2021 Jan;44(1):35–42. doi: 10.2337/dc20-1520. PMID: 33184150.The key findings from this cohort of patients with ABCC8 neonatal diabetes mellitus (NDM) are: A) good glycaemic control is maintained over the long-term without any serious adverse events (including severe hypoglycaemia) despite high doses of sulphonylurea, B) some patients show improvements in neurologica...

J Clin Endocrinol Metab 2021; 106(5): e2063–e2077.https://pubmed.ncbi.nlm.nih.gov/33527139/The authors report the findings of a 6-month, randomized, phase 3 trial, with a single arm extension, to investigate the efficacy, safety and tolerability of modified release hydrocortisone (MC-HC) replacement therapy versus standard glucocorticoid replacement therapy in 122 adult patients with c...

Lancet Diabetes Endocrinol. 2020; 8(9): 748–761.https://pubmed.ncbi.nlm.nih.gov/32730798/The authors report the outcomes from the pivotal phase 3 trial in patients with Cushing’s disease of osilodrostat (a potent oral inhibitor of cytochrome P450 11B1, [mitochondrial 11β-hydroxylase]). Twice-daily osilodrostat rapidly reduced mean 24-h urine free cortisol (UFC) and sustained ...

Nature. 2021 volume 594, 398–402https://www.nature.com/articles/s41586-021-03552-wThe authors report a large genome-wide association study (GWAS) of type 1 diabetes (T1D) in 18 942 cases and 501 638 controls, finding 92 T1D-associated genomic loci (59 known and 33 novel). Furthermore they analyse DNA chromatin patterns in pancreas and peripheral white blood cells to help ident...

Cell Stem Cell. 2022 Feb 3;29(2):328-343.e5. doi: 10.1016/j.stem.2021.11.009. PMID: 34879244.Brief Summary: By applying single-cell RNA sequencing (scRNA-seq) to 112,376 cells of human hypothalamus ranging from 7–20 gestational weeks (GW7–20), the authors produced a spatiotemporal transcriptome atlas of human hypothalamus development and revealed critical regulatory genes control...

Sci Transl Med. 2021; 13(596): eabc0555. PMID: 34078742https://pubmed.ncbi.nlm.nih.gov/34078742/Brief Summary: These in vitro and in vivo studies show that the brain penetrant PPARγ agonist leriglitazone restores multiple biological pathways relevant for neuroinflammatory and neurodegenerative diseases, and particularly for X-linked adreno-leukodystrophy (X-AL...