ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Endocrinology 2019;160:2165–2179This paper characterize viral insulin/IGF-1–like peptides (VILPs), which the authors identified in four members of the Iridoviridae family - viruses with double-stranded DNA genomes, which are found in amphibians, fish, and invertebrates. VILPs can bind to human insulin and IGF-1 receptors and stimulate classic post-receptor signaling pathways. They can stimulate glucose uptake...

To read the full abstract: Nature 2020;580:235–238.These authors applied modern protein analysis to an ancient molar from a male Homo antecessor dated to 772–949 thousand years ago (kya) from the Sierra de Atapuerca in Burgos, Spain and also to dentine and enamel from a Homo erectus dated to 1770 kya. They found that the composition of these proteomes is similar to that of modern humans, including enamel-specific amel...

To read the full abstract: Nature 2020; 581, 434–443The Genome Aggregation Database (gnomAD) Consortium https://gnomad.broadinstitute.org compiled data on ˜125,000 exomes and ~15,000 whole genomes from populations around the world. This is one of seven articles (also see Refs 1–6) describing their initial discoveries, showing the power of this vast dataset, and presenting a more comp...

To read the full abstract: Science 2020; 367(6484):eaay5012.These authors sequenced 929 whole-genome sequences from 54 geographically, linguistically, and culturally diverse human populations, as part of the Human Genome Diversity Project, a panel of global populations. The data represent African, Oceanian, and American-Indian populations. They identified 67.3 million single-nucleotide polymorphisms (SNPs), 8.8 million small insertions or deleti...

To read the full abstract: Biology Letters 2020;16:20190867Why do men die younger than women? It is believed that this is because they take bigger risks, have more dangerous jobs, drink, and smoke more, and are poorer at seeking advice from doctors. But maybe it also had something to do with the sex chromosomes that men have. These authors studied sex chromosomes and lifespans in a wide range of animal species and found shorter lifespan in the s...

To read the full abstract: Publications 2020;8:17Predatory journals, sometimes called write-only publishing or deceptive publishing, follow an exploitive academic publishing business model that involves charging publication fees to authors without checking articles for quality and legitimacy and without providing the other editorial and publishing services that legitimate academic journals provide, whether open access or not. Their numbers keep ...

To read the full abstract: Science Advances 2019;5:eaaw7908This paper shows that the craniofacial and cognitive/behavioral phenotypes caused by alterations at the critical gene region for the Williams-Beuren syndrome is caused by changes in the chromatin remodeler BAZ1B in neural crest, and can serve as an entry point into the evolution of the modern human face and pro-sociality.Williams-Beuren syndrome is caused ...

To read the full abstract: N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279.This remarkable case report - by authors from Boston Children’s Hospital and funded by Mila’s Miracle Foundation - describes the development and use of a patient-customised antisense oligonucleotide drug that was tailored specifically against the unique DNA sequence mutation in a 6-ye...

To read the full abstract: Lancet. 2019 Nov 30;394(10213):2012-2024. doi: 10.1016/S0140-6736(19)32517-6.Resmetirom (MGL-3196) is a liver-directed, orally active, selective thyroid hormone receptor-β agonist. This 36-week long randomised, placebo-controlled trial in 348 US adults with biopsy confirmed non-alcoholic steatohepatitis (fibrosis stages 1–3) shows that Resmetirom...

To read the full abstract: Lancet. 2020 Jan 25;395(10220):285-293. doi: 10.1016/S0140-6736(19)32973-3.This randomised, placebo-controlled trial (‘ASPIRIN’) in 11,976 nulliparous women in six low or middle-income countries (India, Democratic Republic of the Congo, Guatemala, Kenya, Pakistan, and Zambia) found that low-dose aspirin (81 mg daily from early pregnancy) reduced t...

To read the full abstract: EClinicalMedicine. 2020 Apr 30;22:100338. doi: 10.1016/j.eclinm.2020.100338.The gravitostat hypothesis was only recently proposed based on studies in rodents showing that the addition of external weights to the body limits the rate of weight gain, independent of leptin signalling. In rodents, this was achieved by inserting weighted balloons into the abdomina...

To read the full abstract: Cell Metab. 2020 Jun 2;31(6):1120-1135.e7. doi: 10.1016/j.cmet.2020.04.013.This experimental rodent study of a PEGylated amphetamine (PEGyAMPH) designed to not cross the blood brain barrier is interesting for 2 reasons. First, it shows that its peripheral anti-obesity effects alone (without the central anorexic effects of amphetamine) are sufficient to achieve...

To read the full abstract: Arch Dis Child. 2019 Dec;104(12):1138-1142. doi: 10.1136/archdischild-2019-317590.Many effective drugs originated from traditional remedies. The 2016 Nobel Prize in Physiology or Medicine was awarded to Tu Youyou, whose work underpinned the development of the anti-malarial drug artemisinin by isolating the active ingredient of ‘Qinghao’, which ...

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: PLoS Med. 2020 Mar 9;17(3):e1003051. doi: 10.1371/journal.pmed.1003051.The authors describe a 12-week long randomised controlled trial of weekly oral fecal microbiota transplantation capsules, derived from healthy lean donors, given to 24 adults with obesity and mild–moderate insulin resistance. Despite evidence of successful microbiota engraftment in r...

To read the full abstract: JAMA. 2019 Aug 27;322(8):736–745. doi: 10.1001/jama.2019.11889Two legs good, four legs better? Vitamin D supplementation is widely recommended in various national guidelines at doses of 400 to 2000 iu per day in children and adults for its benefits on bone health. So you might think that more would be even better? At least 3% of US adults agree with this ext...