ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This population-based national register study searched for imprinting-related disorders in all liveborn singletons in Sweden (N=2,084,127) born between 1997 and 2017 with follow-up to Dec 2018. They identified 1,044 children with Beckwith-Wiedemann Syndrome (BWS), Prader-Willi Syndrome (PWS)/Silver-Russell Syndrome (SRS), or central precocious puberty (CPP), of whom 52 were conceived using ART therapy. The risk of being diagnosed with any of these disorders was ...

To read the full abstract: Science. 2017 Aug 18;357(6352):717-720See comment on 6.13...

Brief Summary: This study uses a combination of proteomics and murine transgenics to identify the role of Kisspeptin signalling in astrocytes and how it impacts the reproductive axis.Kisspeptin, a neuropeptide, is essential for regulating the hypothalamic-pituitary-gonadal (HPG) axis, which controls reproduction by acting on GnRH neurons. While most studies have focused on GnRH neurons as the primary mediators of kisspeptin signalling and function, this ...

To read the full abstract: Thyroid. 2019;29:595–606.Here, ultrastructural analysis of primary cilia in human thyroid follicles revealed a direct relationship between frequency and length of primary cilia and the functional state of the individual follicle in normal compared to hyperfunctioning thyroid tissues.Primary cilia are present in many different tissues...

Clin Transl Med. 2021 Jan;11(1):e265. Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/33463067/In brief: In order to explore safety, efficacy, and feasibility of repeated infusions of mesenchymal stem cells (MSCs) as a treatment for OI, two pediatric OI patients were treated with repeated infusions of HLA-matched MSCs. The patients tolerated the treatment well and ...

Environ Health Perspect.2021 Aug;129(8):87003. doi: 10.1289/EHP8795. Epub 2021 Aug 12. PMID: 34383603. https://ehp.niehs.nih.gov/doi/10.1289/EHP8795?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmedBrief Summary: Using a rode...

To read the full abstract: JAMA Pediatr. 2019 Aug 5;173(10):e192430. doi: 10.1001/jamapediatrics.2019.2430.The authors systematically reviewed published evidence on the prevalence of overweight and obesity in children aged 2–13 years. Based on data on 477 620 children from 28 European countries, they conclude that the prevalence is very high but appears to have stabilized in ...

Brief summary: This study summarises the involvement of specific miRNAs in diabetes mellitus, thyroid diseases, osteoporosis, pituitary tumours, Cushing’s disease, adrenal insufficiency and multiple endocrine neoplasia’s. Furthermore, the potential of miRNA as candidates for developing novel diagnostic and therapeutic tools is also discussed.Endocrine disorders are common worldwide and represent a considerable public health problem due to long ...

Orphanet J Rare Dis. 2021 Dec 23;16(1):522.Abstract: https://pubmed-ncbi-nlm-nih-gov/34949201/In Brief: Based on over 37,000 length/height, weight and head circumference measures from 1374 patients with achondroplasia in the USA, updated length/height-for-age, weight-for-age, head circumference-for-age (HC) and weight-for-height curves were generated for children up to 18 years of age (HC u...

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...