Ancient genomics support deep divergence between Eastern and Western Mediterranean Indo-European languages.

The Indo-European languages are among the most widely spoken in the world, yet their early diversification remains contentious. It is widely accepted that the spread of this language family across Europe from the 5th millennium BP correlates with the expansion and diversification of steppe-related genetic ancestry from the onset of the Bronze Age. However, multiple steppe-derived populations co-existed in Europe during this period, and it remains unclear how these populations diverged and which provided the demographic channels for the ancestral forms of the Italic, Celtic, Greek, and Armenian languages.

Recurrent immunosuppressive-responsive myocarditis in a patient with desmoplakin cardiomyopathy: a case report.

Background: Desmoplakin (DSP) cardiomyopathy is a rare genetic condition characterized by repeated inflammatory myocardial injury and is associated with ventricular arrhythmia and sudden cardiac death. Diagnosis is challenging and requires a combination of genetic testing and advanced imaging techniques.

Case Summary: We present the case of a 38-year-old woman with recurrent episodes of subclinical myocarditis.

100 ancient genomes show repeated population turnovers in Neolithic Denmark.

Major migration events in Holocene Eurasia have been characterized genetically at broad regional scales. However, insights into the population dynamics in the contact zones are hampered by a lack of ancient genomic data sampled at high spatiotemporal resolution. Here, to address this, we analysed shotgun-sequenced genomes from 100 skeletons spanning 7,300 years of the Mesolithic period, Neolithic period and Early Bronze Age in Denmark and integrated these with proxies for diet (C and N content), mobility (Sr/Sr ratio) and vegetation cover (pollen).

The selection landscape and genetic legacy of ancient Eurasians.

The Holocene (beginning around 12,000 years ago) encompassed some of the most significant changes in human evolution, with far-reaching consequences for the dietary, physical and mental health of present-day populations. Using a dataset of more than 1,600 imputed ancient genomes, we modelled the selection landscape during the transition from hunting and gathering, to farming and pastoralism across West Eurasia. We identify key selection signals related to metabolism, including that selection at the FADS cluster began earlier than previously reported and that selection near the LCT locus predates the emergence of the lactase persistence allele by thousands of years.

The genomic history of the indigenous people of the Canary Islands.

The indigenous population of the Canary Islands, which colonized the archipelago around the 3 century CE, provides both a window into the past of North Africa and a unique model to explore the effects of insularity. We generate genome-wide data from 40 individuals from the seven islands, dated between the 3-16 centuries CE. Along with components already present in Moroccan Neolithic populations, the Canarian natives show signatures related to Bronze Age expansions in Eurasia and trans-Saharan migrations.

Early presence of Homo sapiens in Southeast Asia by 86-68 kyr at Tam Pà Ling, Northern Laos.

The timing of the first arrival of Homo sapiens in East Asia from Africa and the degree to which they interbred with or replaced local archaic populations is controversial. Previous discoveries from Tam Pà Ling cave (Laos) identified H. sapiens in Southeast Asia by at least 46 kyr.

A Middle Pleistocene Denisovan molar from the Annamite Chain of northern Laos.

The Pleistocene presence of the genus Homo in continental Southeast Asia is primarily evidenced by a sparse stone tool record and rare human remains. Here we report a Middle Pleistocene hominin specimen from Laos, with the discovery of a molar from the Tam Ngu Hao 2 (Cobra Cave) limestone cave in the Annamite Mountains. The age of the fossil-bearing breccia ranges between 164-131 kyr, based on the Bayesian modelling of luminescence dating of the sedimentary matrix from which it was recovered, U-series dating of an overlying flowstone, and U-series-ESR dating of associated faunal teeth.

Late Quaternary dynamics of Arctic biota from ancient environmental genomics.

During the last glacial-interglacial cycle, Arctic biotas experienced substantial climatic changes, yet the nature, extent and rate of their responses are not fully understood. Here we report a large-scale environmental DNA metagenomic study of ancient plant and mammal communities, analysing 535 permafrost and lake sediment samples from across the Arctic spanning the past 50,000 years. Furthermore, we present 1,541 contemporary plant genome assemblies that were generated as reference sequences.

Factors associated with functional arteriovenous fistula at hemodialysis start and arteriovenous fistula non-use in a single-center cohort.

Background: The gold standard of commencing hemodialysis with a functional arteriovenous fistula (AVF) is challenging. We aim to review factors associated with functional AVF at hemodialysis start at a tertiary hospital.

Methods: We retrospectively reviewed incident hemodialysis patients or who had AVF creation at a single tertiary hospital from 2011 to 2016.

Population genomics of the Viking world.

The maritime expansion of Scandinavian populations during the Viking Age (about AD 750-1050) was a far-flung transformation in world history. Here we sequenced the genomes of 442 humans from archaeological sites across Europe and Greenland (to a median depth of about 1×) to understand the global influence of this expansion. We find the Viking period involved gene flow into Scandinavia from the south and east.

Osteosarcoma progression is associated with increased nuclear levels and transcriptional activity of activated β-Catenin.

Osteosarcoma (OS) is an aggressive primary bone malignancy that has peak incidence in children and young adults <25 years of age. Despite current multimodal treatments, no significant change in patient outcome has been observed in two decades. Presently, there is a lack of established, reliable baseline prognostic markers for aggressive OS, other than extent and site of disease involvement.

Chromatin Immunoprecipitation (ChIP) Protocols for the Cancer and Developmental Biology Laboratory.

Chromatin immunoprecipitation assays permit the isolation and subsequent identification of genomic DNA (gDNA) fragments bound directly or indirectly to proteins of interest, including transcription factors, co-factors, or chromatin remodeling proteins. These isolated DNA fragments may include gene regulatory regions from enhancers, super-enhancers, promoters, and/or insulators. Cells of interest can be obtained from embryonic tissues at various developmental time points or cancer cells from patients or derived from model systems, including patient-derived xenotransplants and primary cancer stem cells and cell lines.

The prehistoric peopling of Southeast Asia.

The human occupation history of Southeast Asia (SEA) remains heavily debated. Current evidence suggests that SEA was occupied by Hòabìnhian hunter-gatherers until ~4000 years ago, when farming economies developed and expanded, restricting foraging groups to remote habitats. Some argue that agricultural development was indigenous; others favor the "two-layer" hypothesis that posits a southward expansion of farmers giving rise to present-day Southeast Asian genetic diversity.

Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.

On the occasion of the 100th anniversary of Dr. Harald Hirschsprung's death, there is a worldwide significant research effort toward identifying and understanding the role of genes and biochemical pathways involved in the pathogenesis as well as the use of new therapies for the disease harboring his name (Hirschsprung disease, HSCR). HSCR (aganglionic megacolon) is a frequent diagnostic and clinical challenge in perinatology and pediatric surgery, and a major cause of neonatal intestinal obstruction.

The role of doctors in investigation, prevention and treatment of torture.

Doctors may assess and treat torture survivors; some may document crucial evidence of torture in medico-legal reports. However, there is a lack of education on torture and related ethical and legal issues at undergraduate and postgraduate level and many doctors are not aware of opportunities to work with organisations for the prevention of torture. This paper defines Torture, describes methods used, and sets out the human rights instruments and codes of ethical practice that mandate efforts to prevent torture.

A systematic review of the nutritional status of women of a childbearing age with severe mental illness.

Little is known about the nutritional status of pregnant women with severe mental illness. We therefore carried out a systematic review to investigate whether pregnant women and childbearing aged women with severe mental illness have significantly greater nutritional deficiencies compared with pregnant women and childbearing aged women with no mental illness. We carried out a search using MEDLINE, EMBASE and PsycINFO from January 1980 to January 2011 for studies on nutritional status of childbearing aged women with psychotic disorders.