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Yearbook of Paediatric Endocrinology 2019

ey0016.14-1 | (1) | ESPEYB16

14.1. Could artificial intelligence make doctors obsolete?

Goldhahn Jorg , Rampton Vanessa , Spinas Giatgen A

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...

ey0016.14-2 | (1) | ESPEYB16

14.2. Gene-silencing technology gets first drug approval after 20-year wait

Ledford H

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 ...

ey0016.14-3 | (1) | ESPEYB16

14.3. A membrane transporter is required for steroid hormone uptake in Drosophila

N Okamoto , R Viswanatha , R Bittar , Z Li , S Haga-Yamanaka , N Perrimon , N Yamanaka

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...

ey0016.14-4 | (1) | ESPEYB16

14.4. A reprogramming human T cell function and specificity with non-viral genome targeting

TL Roth , C Puig-Saus , R Yu , E Shifrut , J Carnevale , PJ Li , Hiatt , J Saco , P Krystofinski , H Li , V Tobin , DN Nguyen , MR Lee , AL Putnam , AL Ferris , JW Chen , JN Schickel , L Pellerin , D Carmody , G Alkorta-Aranburu , D Del Gaudio , H Matsumoto , M Morell , Y Mao , M Cho , RM Quadros , CB Gurumurthy , B Smith , M Haugwitz , SH Hughes , JS Weissman , K Schumann , JH Esensten , AP May , A Ashworth , GM Kupfer , SAW Greeley , R Bacchetta , E Meffre , MG Roncarolo , N Romberg , KC Herold , A Ribas , MD Leonetti , A Marson

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...

ey0016.14-5 | (1) | ESPEYB16

14.5. Horizontal transfer of BovB and L1 retrotransposons in eukaryotes

AM Ivancevic , RD Kortschak , T Bertozzi , DL Adelson

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...

ey0016.14-6 | (1) | ESPEYB16

14.6. A late middle pleistocene Denisovan mandible from the Tibetan Plateau

Chen Fahu , Welker Frido , Shen Chuan-Chou , Bailey Shara E. , Bergmann Inga , Davis Simon , Xia Huan , Wang Hui , Fischer Roman , Freidline Sarah E. , Yu Tsai-Luen , Skinner Matthew M. , Stelzer Stefanie , Dong Guangrong , Fu Qiaomei , Dong Guanghui , Wang Jian , Zhang Dongju , Hublin Jean-Jacques

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...

ey0016.14-7 | (1) | ESPEYB16

14.7. A large impact crater beneath Hiawatha Glacier in northwest Greenland

Kjaer Kurt H. , Larsen Nicolaj K. , Binder Tobias , Bjork Anders A. , Eisen Olaf , Fahnestock Mark A. , Funder Svend , Garde Adam A. , Haack Henning , Helm Veit , Houmark-Nielsen Michael , Kjeldsen Kristian K. , Khan Shfaqat A. , Machguth Horst , McDonald Iain , Morlighem Mathieu , Mouginot Jeremie , Paden John D. , Waight Tod E. , Weikusat Christian , Willerslev Eske , MacGregor Joseph A.

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...

ey0016.14-8 | (1) | ESPEYB16

14.8. Temperature-dependent hypoxia explains biogeography and severity of end-Permian marine mass extinction

Penn Justin L. , Deutsch Curtis , Payne Jonathan L. , Sperling Erik A.

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...

ey0016.14-9 | (1) | ESPEYB16

14.9. Did our species evolve in subdivided populations across Africa, and Why does it matter?

Scerri Eleanor M.L. , Thomas Mark G. , Manica Andrea , Gunz Philipp , Stock Jay T. , Stringer Chris , Grove Matt , Groucutt Huw S. , Timmermann Axel , Rightmire G. Philip , d'Errico Francesco , Tryon Christian A. , Drake Nick A. , Brooks Alison S. , Dennell Robin W. , Durbin Richard , Henn Brenna M. , Lee-Thorp Julia , deMenocal Peter , Petraglia Michael D. , Thompson Jessica C. , Scally Aylwyn , Chikhi Lounes

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...

ey0016.14-10 | (1) | ESPEYB16

14.10. Comparing folic acid dosage strengths to prevent reduction in fetal size among pregnant women who smoked cigarettes: A randomized clinical trial

KK Yusuf , HM Salihu , R Wilson , A Mbah , W Sappenfield , LM King , K Bruder

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...

ey0016.14-11 | (1) | ESPEYB16

14.11. Neonatal selection by Toll-like receptor 5 influences long-term gut microbiota composition

M Fulde , F Sommer , B Chassaing , K van Vorst , A Dupont , M Hensel , M Basic , R Klopfleisch , P Rosenstiel , A Bleich , F Backhed , AT Gewirtz , MW Hornef

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...

ey0016.14-12 | (1) | ESPEYB16

14.12. Genome amplification and cellular senescence are hallmarks of human placenta development

P Velicky , G Meinhardt , K Plessl , S Vondra , T Weiss , P Haslinger , T Lendl , K Aumayr , M Mairhofer , X Zhu , B Schutz , RL Hannibal , R Lindau , B Weil , J Ernerudh , J Neesen , G Egger , M Mikula , C Rohrl , AE Urban , J Baker , M Knofler , J Pollheimer

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...

ey0016.14-13 | (1) | ESPEYB16

14.13. Effect of genetic diagnosis on patients with previously undiagnosed disease

K Splinter , DR Adams , CA Bacino , HJ Bellen , JA Bernstein , AM Cheatle-Jarvela , CM Eng , C Esteves , WA Gahl , R Hamid , HJ Jacob , B Kikani , DM Koeller , IS Kohane , BH Lee , J Loscalzo , X Luo , AT McCray , TO Metz , JJ Mulvihill , SF Nelson , CGS Palmer , JA, 3rd Phillips , L Pick , JH Postlethwait , C Reuter , V Shashi , DA Sweetser , CJ Tifft , NM Walley , MF Wangler , M Westerfield , MT Wheeler , AL Wise , EA Worthey , S Yamamoto , EA Ashley

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...

ey0016.14-14 | (1) | ESPEYB16

14.14. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

J Lord , DJ McMullan , RY Eberhardt , G Rinck , SJ Hamilton , E Quinlan-Jones , E Prigmore , R Keelagher , SK Best , GK Carey , R Mellis , S Robart , IR Berry , KE Chandler , D Cilliers , L Cresswell , SL Edwards , C Gardiner , A Henderson , ST Holden , T Homfray , T Lester , RA Lewis , R Newbury-Ecob , K Prescott , OW Quarrell , SC Ramsden , E Roberts , D Tapon , MJ Tooley , PC Vasudevan , AP Weber , DG Wellesley , P Westwood , H White , M Parker , D Williams , L Jenkins , RH Scott , MD Kilby , LS Chitty , ME Hurles , ER Maher

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 ...

ey0016.14-16 | (1) | ESPEYB16

14.16. Insights into imprinting from parent-of-origin phased methylomes and transcriptomes

F Zink , DN Magnusdottir , OT Magnusson , NJ Walker , TJ Morris , A Sigurdsson , GH Halldorsson , SA Gudjonsson , P Melsted , H Ingimundardottir , S Kristmundsdottir , KF Alexandersson , A Helgadottir , J Gudmundsson , T Rafnar , I Jonsdottir , H Holm , GI Eyjolfsson , O Sigurdardottir , I Olafsson , G Masson , DF Gudbjartsson , U Thorsteinsdottir , BV Halldorsson , SN Stacey , K Stefansson

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...

ey0016.14-17 | (1) | ESPEYB16

14.17. Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia

S Bhattacharya , J Li , A Sockell , MJ Kan , FA Bava , SC Chen , MC Avila-Arcos , X Ji , E Smith , NB Asadi , RS Lachman , HYK Lam , CD Bustamante , AJ Butte , GP Nolan

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...

ey0016.14-18 | (1) | ESPEYB16

14.18. Darolutamide in nonmetastatic, castration-resistant prostate cancer

K Fizazi , N Shore , TL Tammela , A Ulys , E Vjaters , S Polyakov , M Jievaltas , M Luz , B Alekseev , I Kuss , C Kappeler , A Snapir , T Sarapohja , MR Smith , A Investigators

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 ...