ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Diabetes Care. 2020 Apr;43(4):906–908. doi: 10.2337/dc19-2126. Epub 2020 Jan 23. PMID: 31974101Antenatal corticosteroid administration prior to planned cesarean section in early labour reduces by >50% the risk of admission to the neonatal intensive care unit for respiratory distress syndrome and transient tachypnea of the newborn. However, among pregnant women wit...

Brief Summary: This systematic review investigated the physical residual effects of treatment on pediatric cancer survivors in low- and middle-income countries (LMICs), a topic with substantial information voids. Selection bias, limited sample sizes, and wide differences in the definition of long-term treatment effects were identified and these limited the ability to perform meta-analyses.In high-income countries (HICs), the 5-year survival rates followi...

Pediatrics. 2022 1;149(6):e2021050733. doi: 10.1542/peds.2021-050733. PMID: 35582897.Brief Summary: This randomized clinical trial in ‘at-risk’ neonates with asymptomatic hypoglycemia tested whether oral dextrose gel prevented the need for intravenous fluids. Oral dextrose gel reduced the need for intravenous fluids as well as admission to the neonatal intensive care unit (NICU).</...

To read the full abstract: Lancet 2017;389:2473-2481We are all familiar with the ‘placebo’ effect, when the psychological anticipation of a ‘benefit’ of treatment is so strong that it adds to or even outweighs the actual physical benefits. Many doctors have even admitted to prescribing placebo tablets, or “sugar pills” to their patients, for exam...

JAMA Pediatr. 2021;175(3):251–259. https://jamanetwork.com/journals/jamapediatrics/article-abstract/2773004The authors report a cluster randomized clinical trial in 79 California schools, involving 28,641 students in grades 3 to 8. The intervention comprised school measurements of BMI and sending the results to parents, but this had no effect on BMI Z-sco...

To read the full abstract: Am J Med Genet A. 2019; 179(7):1205–1213.X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, with an estimated incidence in the USA of ~1:17,000 all births (male and female) and 1:21,000 male births. X-ALD is caused by mutations in the X chromosome gene ABCD1, which encodes the peroxisomal membrane protein, ATP-bin...

Brief summary: This observational study in three different cohorts found an increased risk for atherothrombotic disease associated with the commonly used sugar substitute erythritol. Untargeted metabolomics (in cohort 1, n=1157) and targeted metabolomics (in cohorts 2 and 3, n=2149 USA and n=833 Europe, respectively) investigations revealed an increased risk for major adverse cardiovascular events (MACE) including death, myocardial infarction and str...

In Brief: The authors describe a wide range of studies. Firstly, observational studies showed that circulating taurine concentrations decline with age in mice, monkeys, and humans – and in the latter, low taurine was associated with metabolic disease (abdominal fat, blood pressure, Type 2 diabetes). They then gave oral taurine to mice throughout their lives and showed that this increased lifespan by 10–12% and improved functional outcomes of almost all tissues studie...

N Engl J Med. 2021;385(17):1581-92. doi: 10.1056/NEJMoa2103329.PubMed ID: 34614324Brief Summary: The authors performed whole exome sequencing in 2548 children with severe obesity and identified 22 GNAS mutation carriers, almost all of which disrupted melanocortin 4 receptor (MC4R) signaling.The gene GNAS encodes the stimulatory G-protein alpha subunit pr...

Brief Summary: These authors performed exhaustive saturation genome editing (SGE) of BAP1 (BRCA1-associated protein 1), the disruption of which is linked to tumorigenesis and altered neurodevelopment. 18,108 unique variants were characterized, of which 6,196 were found to have abnormal functions. These were then used to evaluate phenotypic associations in the UK Biobank. BAP1 variants were also characterized in a large population-ascertained tumor collection,...