ESPE Yearbook of Paediatric Endocrinology

Brief summary: This longitudinal UK cohort study examined the prospective associations between objectively measured physical activity, independently of BMI, and pubertal timing in boys and girls.This large study analyzed device-measured physical activity and its intensity in relation to puberty timing, using accelerometers worn on the right hip. A previous meta-analysis reported that female athletes had later age at menarche than non-athletes (1), but it...

Brief summary: This paper describes 18 patients with bi-allelic leptin deficiency (LEP, n=11) or leptin receptor deficiency (LEPR, n=7), including 10 new cases and two novel variants. In addition, in a review of the literature (until July 2022), the authors identified n=75 patients living with LEP deficiency and n=90 with LEPR deficiency (n=152 included for comparison between groups).<p class=...

Brief summary: This article develops a framework to assess the effect of adoption of new health interventions on rates of healthcare expenditure using a cost-effectiveness threshold. This detailed economic analysis is applied to 174 countries and would allow decision-makers to evaluate the effects of increased expenditure on overall population health.Health systems face strong pressure to meet the needs of populations, but to do so with scarce resources....

Blood Rev. 2021; 45: 100730. https://pubmed.ncbi.nlm.nih.gov/32654893/This practical treatment protocol was developed by an experienced multidisciplinary team following a critical and updated systematic review of the literature.Hypogonadism is a common finding after antineoplastic treatment. It can either result from a primary gonadal disorder (due to pelvic irradiati...

Pediatr Diabetes 2020;1–8. doi: 10.1111/pedi.13137– As part of the SWEET initiative, the authors analyzed the clinical characteristics of 26,726 individuals with type 1 diabetes (T1D) aged < 21 years living in Europe, Asia/Middle East/Africa, Australia/New Zealand, North America and South America– Among patient care indicators, the percent of HbA1c < 7.5% ranged between r...

Nature, 2020. 580, 511–516.https://www.nature.com/articles/s41586-020-2199-7 The authors identify in mice a population of neurons in the vagal ganglia and brainstem that are activated by the direct delivery of sugar but not artificial sweeteners to the gut. They genetically engineered changes in this gut-to-brain circuit. Silencing of synaptic activity in this circuit prevented...

To read the full abstract: PLoS Genet. 2019 Dec 16;15(12):e1008530.In brief: This genome-wide association study in a cohort of healthy infants shows that, already during the first two years of life, genetic variation in the genes encoding Vitamin D binding protein and Vitamin D 25-hydroxylase correlate with serum 25(OH)D levels and responses to vitamin D supplementation.<p clas...

To read the full abstract: Int J Cancer. 2020 Mar 13. doi: 10.1002/ijc.32963. Epub ahead of print. susi.kriemlerwiget@uzh.chChildhood cancer survivors (CCS) can experience impaired bone health as a consequence of the disease itself, the specific treatments and/or associated chronic conditions. This cross-sectional study analyses baseline data from th...

To read the full abstract: Science 2019;365:eaat9351.As in humans, weight gain in mice leads to fatty liver disease, inflammatory adipose tissue, and insulin resistance. The depletion of the microbiota through antibiotic treatment rescued this weight gain. The cohousing of T-Myd88–/– mice transferred the weight gain to wild-type mice. The major feature of the microbiota formed within T-Myd88–/– mice was a reduction in Clostri...

To read the full abstract: Science 2019;363(6424).A wide range of human diseases result from haploinsufficiency, where gene expression is decreased as compared to normal conditions. Haploinsufficiency is a typical mechanism in autosomal dominant disorders. Rare mutations in Sim1 or Mc4r are models of haploinsufficiency causing severe early-onset obesity with hyperphagia...