Rare disease experts detail the first results of an unprecedented collaboration to diagnose people living with unsolved cases of rare diseases across Europe. The findings are published today in a series of six papers in the European Journal of Human Genetics. In the main publication, an international consortium, known as Solve-RD, explains how the periodic reanalysis of genomic and phenotypic information from people living with a rare disease can boost the chance of diagnosis when combined with data sharing across European borders on a massive scale. Using this new approach, a preliminary reanalysis of data from 8,393 individuals resulted in 255 new diagnoses, some with atypical manifestations of known diseases. A complementary study ...

Scientists at Tokyo Institute of Technology (Tokyo Tech) have developed a wirelessly powered relay network for 5G systems. The proposed battery-free communication addresses the challenges of flexible deployment of relay networks. This design is both economical and energy-efficient. Such advances in 5G communications will create tremendous opportunities for a wide range of sectors. The ever-increasing demand for wireless data bandwidth shows no sign of slowing down in the near future. Millimeter wave, a short wavelength spectrum, has shown great potential in 5G communications and beyond. To leverage ...

Sophia Antipolis - 1 June 2021: A study in 5.8 million children has found a higher incidence of stroke four decades later in those whose mother had high blood pressure or pre-eclampsia while pregnant. The research is presented at ESC Heart & Stroke 2021, an online scientific conference of the European Society of Cardiology (ESC).1 "Our findings indicate that hypertensive disorders during pregnancy are associated with increased risks of stroke and potentially heart disease in offspring up to the age of 41 years," said study author Dr. Fen Yang, PhD student, Karolinska Institutet, Stockholm, Sweden. "Studies with longer follow-up are needed to confirm the results and ...

VANCOUVER, Wash. - A new study in Global Biogeochemical Cycles shows per-area greenhouse gas emissions from the world's water reservoirs are around 29% higher than suggested by previous studies, but that practical measures could be taken to help reduce that impact. Much of the increase in emissions comes from previously unaccounted for methane degassing, a process where methane passes through a dam and bubbles up downstream, according to the analysis by Washington State University and University of Quebec at Montreal scientists. Overall, the researchers found ...

PULLMAN, Wash. - No billionaires live among the Tsimane people of Bolivia, although some are a bit better off than others. These subsistence communities on the edge of the Amazon also have fewer chronic health problems linked to the kind of dramatic economic disparity found in industrialized Western societies. For a study in the journal eLife, a research team led by Aaron Blackwell of Washington State University and Adrian Jaeggi of University of Zurich tracked 13 different health variables across 40 Tsimane communities, analyzing them against each person's wealth and the degree of inequality in each community. While some have theorized that inequality's health impacts are universal, the researchers found only two robustly associated outcomes: higher blood pressure and ...

Electrical engineers at the University of California San Diego developed a technology that improves the resolution of an ordinary light microscope so that it can be used to directly observe finer structures and details in living cells. The technology turns a conventional light microscope into what's called a super-resolution microscope. It involves a specially engineered material that shortens the wavelength of light as it illuminates the sample--this shrunken light is what essentially enables the microscope to image in higher resolution. "This material converts low resolution light to high resolution light," said Zhaowei Liu, a professor of electrical and computer engineering at UC San Diego. "It's very simple ...

An enhanced learning environment during the first five years of life shapes the brain in ways that are apparent four decades later, say Virginia Tech and University of Pennsylvania scientists writing in the June edition of the Journal of Cognitive Neuroscience. The researchers used structural brain imaging to detect the developmental effects of linguistic and cognitive stimulation starting at six weeks of age in infants. The influence of an enriched environment on brain structure had formerly been demonstrated in animal studies, but this is the first experimental study to find a similar result in humans. "Our research shows a relationship between brain structure and five years of high-quality, educational and social experiences," said Craig Ramey, ...

New research has shown that if people achieve and maintain substantial weight loss to manage their type 2 diabetes, many can also effectively control their high blood pressure and stop or cut down on their anti-hypertensive medication. A weight management programme, developed by researchers at the Universities of Glasgow and Newcastle for the Diabetes UK-funded DIabetes REmission Clinical Trial (DIRECT), has proved effective at lowering blood pressure and reducing the need for anti-hypertensive medications, as well as bringing remission of type 2 diabetes. The programme involves an initial 12 weeks on a nutritionally complete formula diet (low calorie soups and shakes) which will induce weight loss ...

Below please find summaries of new articles that will be published in the next issue of Annals of Internal Medicine. The summaries are not intended to substitute for the full articles as a source of information. This information is under strict embargo and by taking it into possession, media representatives are committing to the terms of the embargo not only on their own behalf, but also on behalf of the organization they represent. 1. Tai chi about equal to conventional exercise for reducing belly fat in middle-aged and older adults HD video soundbites ...

UCLA HEALTH RESEARCH BRIEF FINDINGS A new study shows that tai chi mirrors the beneficial effects of conventional exercise by reducing waist circumference in middle-aged and older adults with central obesity. The study was done by investigators at the University of Hong Kong, The Chinese University of Hong Kong; Chinese Academy of Sciences; and UCLA. BACKGROUND Central obesity is a major manifestation of metabolic syndrome, broadly defined as a cluster of cardiometabolic risk factors, including central obesity, dyslipidemia, hyperglycemia, low high-density lipoprotein ...

A new study published in Proceedings of National Academics of Sciences finds that individuals who falsely believe they are able to identify false news are more likely to fall victim to it. In the article published today, Ben Lyons, assistant professor of communication at the University of Utah, and his colleagues examine the concern about the public's susceptibility to false news due to their inability to recognize their own limitations in identifying such information. "Though Americans believe confusion caused by false news is extensive, relatively few indicate having seen or shared it," said Lyons. "If people incorrectly see themselves as highly skilled at identifying false news, they may unwittingly be more likely to consume, believe and share it, especially if it conforms to their ...

Phosphate pollution in rivers, lakes and other waterways has reached dangerous levels, causing algae blooms that starve fish and aquatic plants of oxygen. Meanwhile, farmers worldwide are coming to terms with a dwindling reserve of phosphate fertilizers that feed half the world's food supply. Inspired by Chicago's many nearby bodies of water, a Northwestern University-led team has developed a way to repeatedly remove and reuse phosphate from polluted waters. The researchers liken the development to a "Swiss Army knife" for pollution remediation as they tailor their membrane to absorb ...

Very high atmospheric CO2 levels can explain the high temperatures on the still young Earth three to four billion years ago. At the time, our Sun shone with only 70 to 80 per cent of its present intensity. Nevertheless, the climate on the young Earth was apparently quite warm because there was hardly any glacial ice. This phenomenon is known as the 'paradox of the young weak Sun.' Without an effective greenhouse gas, the young Earth would have frozen into a lump of ice. Whether CO2, methane, or an entirely different greenhouse gas heated up planet Earth is a matter of debate among scientists. New research by Dr ...

Art Garfunkel once described his legendary musical chemistry with Paul Simon, "We meet somewhere in the air through the vocal cords ... ." But a new study of duetting songbirds from Ecuador, the plain-tail wren (Pheugopedius euophrys), has offered another tune explaining the mysterious connection between successful performing duos. It's a link of their minds, and it happens, in fact, as each singer mutes the brain of the other as they coordinate their duets. In a study published May 31 in Proceedings of the National Academy of Sciences, a team of researchers studying brain ...

Three groups (Dr. James Birchler's group from University of Missouri, Dr. Jan Barto's group from Institute of Experimental Botany of the Czech Academy of Sciences and Dr. HAN Fangpu's group from the Institute of Genetics and Developmental Biology of the Chinese Academy of Sciences) recently reported a reference sequence for the supernumerary B chromosome in maize in a study published online in PNAS (doi:10.1073/pnas.2104254118). Supernumerary B chromosomes persist in thousands of plant and animal genomes despite being nonessential. They are maintained in populations by mechanisms of "drive" that make them inherited at higher than typical Mendelian rates. Key properties such as its origin, evolution, and the molecular mechanism for its accumulation in ...

While it is widely accepted that climate change drove the evolution of our species in Africa, the exact character of that climate change and its impacts are not well understood. Glacial-interglacial cycles strongly impact patterns of climate change in many parts of the world, and were also assumed to regulate environmental changes in Africa during the critical period of human evolution over the last ~1 million years. The ecosystem changes driven by these glacial cycles are thought to have stimulated the evolution and dispersal of early humans. A paper published in Proceedings of the National Academy of Sciences of the United States of America (PNAS) this week challenges this view. Dr. Kaboth-Bahr ...

The Sahara has not always been covered by only sand and rocks. During the period from 14,500 to 5,000 years ago large areas of North Africa were more heavily populated, and where there is desert today the land was green with vegetation. This is evidenced by various sites with rock paintings showing not only giraffes and crocodiles, but even illustrating people swimming in the "Cave of Swimmers". This period is known as the Green Sahara or African Humid Period. Until now, researchers have assumed that the necessary rain was brought from the tropics through an enhanced summer monsoon. The northward shift of the monsoon was attributed to rotation of the Earth's tilted axis that produces higher levels of ...

An emotion regulation strategy known as cognitive reappraisal helped reduce the typically heightened and habitual attention to drug-related cues and contexts in cocaine-addicted individuals, a study by Mount Sinai researchers has found. In a paper published in PNAS, the team suggested that this form of habit disruption, mediated by the prefrontal cortex (PFC) of the brain, could play an important role in reducing the compulsive drug-seeking behavior and relapse that are the hallmarks, and long-standing challenges, of addiction. "Relapse in addiction is often precipitated by heightened attention-bias to drug-related cues, which could consist of sights, smells, ...

You may think a little white lie about a bad haircut is strictly for your friend's benefit, but your brain activity says otherwise. Distinct activity patterns in the prefrontal cortex reveal when a white lie has selfish motives, according to new research published in JNeurosci. White lies -- formally called Pareto lies -- can benefit both parties, but their true motives are encoded by the medial prefrontal cortex (MPFC). This brain region computes the value of different social behaviors, with some subregions focusing on internal motivations and others on external ones. Kim and Kim predicted activity patterns in these subregions could elucidate the true motive behind white lies. The research team deployed a stand in for white lies, having participants tell lies to earn a reward ...

By including multi-ethnic participants, a largescale genetic study has identified more regions of the genome linked to type 2 diabetes-related traits than if the research had been conducted in Europeans alone. The international MAGIC collaboration, made up of more than 400 global academics, conducted a genome-wide association meta-analysis led by the University of Exeter. Now published in Nature Genetics, their findings demonstrate that expanding research into different ancestries yields more and better results, as well as ultimately benefitting global patient care. Up to now, nearly 87 per cent of ...

Artificial intelligence promises to be a powerful tool for improving the speed and accuracy of medical decision-making to improve patient outcomes. From diagnosing disease, to personalizing treatment, to predicting complications from surgery, AI could become as integral to patient care in the future as imaging and laboratory tests are today. But as University of Washington researchers discovered, AI models -- like humans -- have a tendency to look for shortcuts. In the case of AI-assisted disease detection, these shortcuts could lead to diagnostic errors if deployed in clinical settings. In a new paper published May 31 in Nature Machine Intelligence, ...

The Water Oxidation Reaction (WOR) is one of the most important reactions on the planet since it is the source of nearly all the atmosphere's oxygen. Understanding its intricacies can hold the key to improve the efficiency of the reaction. Unfortunately, the reaction's mechanisms are complex and the intermediates highly unstable, thus making their isolation and characterisation extremely challenging. To overcome this, scientists are using molecular catalysts as models to understand the fundamental aspects of water oxidation - particularly the oxygen-oxygen bond-forming reaction. For the first time, scientists in ICIQ's ...

Between 1991 and 2018, more than a third of all deaths in which heat played a role were attributable to human-induced global warming, according to a new article in Nature Climate Change. The study, the largest of its kind, was led by the London School of Hygiene & Tropical Medicine (LSHTM) and the University of Bern within the Multi-Country Multi-City (MCC) Collaborative Research Network. Using data from 732 locations in 43 countries around the world it shows for the first time the actual contribution of man-made climate change in increasing mortality risks due to heat. Overall, ...

In a study of 11 medical-mystery patients, an international team of researchers led by scientists at the National Institutes of Health and the Uniformed Services University (USU) discovered a new and unique form of amyotrophic lateral sclerosis (ALS). Unlike most cases of ALS, the disease began attacking these patients during childhood, worsened more slowly than usual, and was linked to a gene, called SPTLC1, that is part of the body's fat production system. Preliminary results suggested that genetically silencing SPTLC1 activity would be an effective strategy for combating this type of ALS. "ALS is a paralyzing ...

LOS ANGELES (May 31, 2021) -- Today The Lundquist Institute announced that its investigators contributed data from several studies, including data on Hispanics, African-Americans and East Asians, to the international MAGIC collaboration, composed of more than 400 global academics, who conducted a genome-wide association meta-analysis led by the University of Exeter. Now published in Nature Genetics, their findings demonstrate that expanding research into different ancestries yields more and better results, as well as ultimately benefitting global patient care. Up to now nearly 87 percent of genomic research of this type has been conducted in Europeans. ...