ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: BMJ, 2018; k4563Machines that can learn and correct themselves already perform better than doctors at some tasks. This opinion article maintains that machines will never be able to replicate the inter-relational quality of the therapeutic nature of the doctor-patient relationship.Artificial intelligence (AI) has the potential to be more accu...

To read the full abstract: Nature, Vol. 560, p. 291, 10 August 2018For the first time, a drug based on the mechanism gene-silencing through RNA interference (RNAi) has received regulatory approval. We can expect that this is a forerunner of a new class of drugs targeting disease-causing genes.It has been known for 20 years that short RNA molecules can attach ...

To read the full abstract: Dev Cell. 2018 Nov 5;47(3):294–305.e7.Steroid hormones were believed to enter target cells via passive diffusion through the plasma membrane. This article shows that, at least for Drosophila, steroid hormones require a protein transporter to enter cells.Genomic functions of steroid hormones are mediated by intracellular nuclear recep...

To read the full abstract: Nature. 2018 Jul;559(7714):405–409This article decries a CRISPR-Cas9 genome-targeting system that does not require viral vectors, allowing rapid and efficient insertion of large DNA sequences at specific sites in the genomes of primary human T cells, while preserving cell viability and function.The common approach to genetically...

To read the full abstract: Genome Biol. 2018 Jul 9;19(1):85Analyzing 759 plant, fungal and animal genomes, this article describes multiple possible horizontal gene transfer events in bat and frog, finding new parasite vectors of transfer such as bed bug, leech and locust.Junk DNA sequences that can multiply and change their position wi...

To read the full abstract: Nature. 2019 May;569(7756):409–412.A Denisovan mandible, identified by ancient protein analysis, was found on the Tibetan Plateau. It is at least 160,000 years old and provides direct evidence of the Denisovans outside Siberia.The enigma of the archaic Denisovan started in 2010 when a fraction of a finger was discovered in the D...

To read the full abstract: Sci Adv. 2018 Nov 14;4(11):eaar8173The discovery of a 31-kilometer-wide impact crater in northwest Greenland, beneath up to a kilometer of ice, implies an instantly vaporizing rock that sent shock waves across the Arctic. Its impact must have had a powerful effect on global climate; a thousand-year global cooling event.You may be...

To read the full abstract: Science 07 Dec 2018: Vol. 362, Issue 6419, eaat1327These authors report the frequencies of Metabolic Index traits in living species and used these values to define a set of model ecophysiotypes. They then populated the model Permian ocean with each ecophysiotype, and found that ocean warming increases the metabolic O2 demand amid declining supply; t...

To read the full abstract: Trends in Ecology & Evolution, 2018. 33 (8); 582–594.This opinion piece argues that Homo sapiens evolved within interlinked groups living across Africa, and not in a single region of East Africa. Millennia of separation gave rise to diversity of human forms, and a complex mix of archaic and modern features in different places and...

To read the full abstract: JAMA Pediatr 2019; 173(5):493–494.This double-blind, randomized controlled trial, in 345 US women who smoked cigarettes during pregnancy, showed that high (4 mg/day) versus standard dose (0.8 mg/day) folic acid increased mean birth weight by 140 grams, had a 31% lower risk of having a SGA baby, and a 35% lower risk of fetal growt...

To read the full abstract: Nature 2018;560:489–493.This paper reports competitive gut colonization experiments in mice. Compared to adult mice, neonatal mice showed much higher expression of the flagellin receptor Tlr5 in their intestinal epithelial cells, and exposure to this protein during the first 2 weeks of life, before weaning, was crucial in determining lifelong...

To read the full abstract: PLoS Genet 2018;14:e1007698.These authors studied human placental and decidual tissues obtained from elective pregnancy terminations (6–12 weeks gestation). Placental extravillous trophoblasts (EVTs), the cells that rapidly invade the mother’s endometrium, undergo an initial stage of genomewide amplification leadi...

To read the full abstract: N Engl J Med 2018;379:2131–2139.The authors reviewed data on 1519 patients referred to the Undiagnosed Diseases Network (UDN), a US NIH funded network linking seven clinical sites. 53% of patients were female and their symptoms were neurologic (40%), musculoskeletal (10%), immunological (7%), gastrointestinal (7%), or rheumatological (6%). Of the 38...

To read the full abstract: Lancet 2019;393:747–757. .This large prospective cohort study recruited from 34 UK fetal medicine units to evaluate the use of prenatal whole genome sequencing in 610 fetuses with a structural abnormality detected on antenatal ultrasound scanning and no chromosomal abnormality. Overall, a diagnostic genetic mutation ...

bioRxiv March 25, 2019. doi: https://doi.org/10.1101/588020The Yearbook does not usually report on studies that are yet published only on ‘preprint’ servers, i.e. author-deposited versions of papers that have not been accepted or even peer-reviewed. However, Nature also made an exception for this paper (1)!These authors analysed whole genome sequen...

To read the full abstract: Nat Genet 2018;50:1542–1552The authors analyse whole blood samples collected in participants of the Icelandic deCODE genetics studies in order to distinguish maternal genotype versus paternal genotype effects on gene expression and methylation in blood. The results provide a new map of imprinted methylation and gene expression patterns across the human gen...

To read the full abstract: Genome Res 2018;28:423–431The discovery of a mummified humanoid female skeleton on a shelf in a building in La Noria, Chile in 2003 created enormous scientific and popular interest. Its highly unusual appearance included a length of only 6 inches despite a bone age of 6–7 years old, marked turricephaly (a cone-shaped top of the skull), and reduced number...

To read the full abstract: N Engl J Med 2019;380:1235–1246This paper reports a randomized, double-blind, placebo-controlled, phase 3 trial of darolutamide, a novel oral androgen-receptor antagonist, in 1509 men with non-metastatic, castration-resistant prostate cancer. Median metastasis-free survival was significantly longer with darolutamide (40.4 months) than placebo (18.4 ...