In Norway, all newborn children are tested for 25 rare genetic diseases through the Newborn Screening program, and the most common of these is phenylketonuria (abbreviated to PKU), known as Folling Disease. Every year, between 3-7 children are born in Norway with PKU, and this diagnosis has a great impact on the rest of their lives. People with PKU must follow a very strict diet all their lives, where they must avoid almost all foods that contain proteins. "Failure to implement the diet from birth may result in irreversible physical problems and brain damage, and optimal brain function requires life-long adherence", explains Professor ...

In a new paper published in the Journal of Environmental Policy & Planning, the University of Maryland teamed up with local researchers to examine green infrastructure adoption and leadership in Tucson, Arizona, an interesting case study where grassroots efforts have helped to drive policy change in a growing urban area surrounded by water-constrained desert. Green infrastructure (any installation that manages water or environmental factors, such as rain gardens, stormwater basins, or urban tree cover) is slowly transitioning from a fringe activity to an important part of the way governments and municipalities are dealing with water and the local effects of a changing climate. By examining ...

Tumors consume glucose at high rates, but a team of Vanderbilt researchers has discovered that cancer cells themselves are not the culprit, upending models of cancer metabolism that have been developed and refined over the last 100 years. Instead, non-cancer cells in a tumor -- primarily immune cells called macrophages -- have the highest glucose uptake, the group reported April 7 in the journal Nature. The findings that different cells in the tumor microenvironment use distinct nutrients according to their own metabolic programs could be exploited to develop new therapies and imaging strategies, ...

Washington, DC-- The 2018 eruption of Kīlauea Volcano in Hawai'i provided scientists with an unprecedented opportunity to identify new factors that could help forecast the hazard potential of future eruptions. The properties of the magma inside a volcano affect how an eruption will play out. In particular, the viscosity of this molten rock is a major factor in influencing how hazardous an eruption could be for nearby communities. Very viscous magmas are linked with more powerful explosions because they can block gas from escaping through vents, allowing pressure ...

Children experiencing cognitive problems such as low attention, poor memory or lack of inhibition may later suffer mental health issues as teenagers and young adults, a new study reveals. Targeting specific markers in childhood for early treatment may help to minimise the risk of children developing certain psychopathological problems in adolescence and adult life, such as borderline personality disorder, depression and psychosis. Cognitive deficits are core features of mental disorders and important in predicting long-term prognosis - the researchers' work indicates that individual patterns of such deficits predate ...

What The Study Did: This case series examines whether maternal SARS-CoV-2 is associated with outcomes in the eyes of their newborns. Authors: Olívia Pereira Kiappe, M.D., M.Sc., of Universidade Federal de São Paulo in Brazil, is the corresponding author. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/  (doi:10.1001/jamaophthalmol.2021.1088) Editor's Note: Please see the article for additional information, including other authors, author contributions and affiliations, conflict of interest and financial disclosures, ...

What The Study Did: This observational study identifies and quantifies the association of race/ethnicity, sex and income, as well as state-specific lockdown measures, with six well-being dimensions in the United States. Authors: Leigh C. Hamlet, B.S., of the University of Washington in Seattle, is the corresponding author. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jamanetworkopen.2021.7373) Editor's Note: The article includes funding/support disclosures. Please see the article for additional information, including other authors, author contributions and affiliations, conflict of interest and financial disclosures, ...

A new estimation of the strength of the magnetic field around the muon--a sub-atomic particle similar to, but heavier than, an electron--closes the gap between theory and experimental measurements, bringing it in line with the standard model that has guided particle physics for decades. A paper describing the research by an international team of scientists appears April 8, 2021 in the journal Nature. Twenty years ago, in an experiment at Brookhaven National Laboratory, physicists detected what seemed to be a discrepancy between measurements of the muon's "magnetic ...

What The Study Did: Researchers report on the observation of a newly associated mucocutaneous eruption in a pediatric patient with confirmed SARS-CoV-2 infection Authors: Zachary E. Holcomb, M.D., of Boston Children's Hospital, is the corresponding author. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jamadermatol.2021.0385) Editor's Note: Please see the article for additional information, including other authors, author contributions and affiliations, conflict of interest and financial disclosures, and funding and support. INFORMATION: Media advisory: The full study is linked to this news release. Embed this link to provide your readers ...

What The Study Did: In this observational study of 3.4 million live births in 2018, criminalizing immigrant policies were associated with higher rates of preterm birth for Black women born outside the U.S., while inclusive immigrant policies were associated with lower preterm birth for all women born outside the U.S.,particularly White women born outside the U.S. Authors: May Sudhinaraset, Ph.D., of the Jonathan and Karin Fielding School of Public Health at the University of California, Los Angeles, is the corresponding author. To access the ...

What The Study Did: Researchers projected to the year 2040 what will become the most common and deadly cancers in the United States. Authors: Lola Rahib, Ph.D., of Cancer Commons in Mountain View, California, is the corresponding author. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jamanetworkopen.2021.4708) Editor's Note: The article includes funding/support disclosures. Please see the article for additional information, including other authors, author contributions and affiliations, conflict of interest and financial disclosures, and ...

What The Study Did: Questionnaire responses were compared to examine whether transgender children and teens experience significantly higher levels of anxiety and depression than their cisgender peers. Authors: Dominic J. Gibson, Ph.D., of the University of Washington in Seattle, is the corresponding author. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jamanetworkopen.2021.4739) Editor's Note: The article includes conflicts of interest and funding/support disclosures. Please see the article for additional information, ...

Ancient DNA from Neandertals and early modern humans has recently shown that the groups likely interbred somewhere in the Near East after modern humans left Africa some 50,000 years ago. As a result, all people outside Africa carry around 2% to 3% Neandertal DNA. In modern human genomes, those Neandertal DNA segments became increasingly shorter over time and their length can be used to estimate when an individual lived. Archaeological data published last year furthermore suggests that modern humans were already present in southeastern Europe 47-43,000 years ago, but due to a scarcity of fairly complete human fossils and the lack of genomic DNA, there is little understanding of who these early human colonists were - or of their relationships to ancient and present-day ...

Analysis by international team including University of Warwick of the first transiting exoplanet that was discovered has revealed six different chemicals in its atmosphere. It is the first time that so many molecules have been measured, and points to an atmosphere with more carbon present than oxygen This chemical fingerprint is typical of a planet that formed much further away from its sun than the current location, a mere 7 million km from the star Study tests techniques that will be useful for detecting signs of potentially habitable planets when more powerful telescopes come online Artist's impression available - see Notes to Editors Astronomers have found ...

A new clinical trial from King's College London's Institute of Psychiatry, Psychology, & Neuroscience, in collaboration with Oxford University, Oxford Health NHS Foundation Trust, Sussex University, and Sussex Partnership NHS Foundation Trust has established an innovative therapy as an effective means of treating paranoid thoughts in people experiencing psychosis. In research published in JAMA Psychiatry today, participants of the SlowMo therapy trial had eight face-to-face therapy sessions with support from an interactive web platform and app. The app, designed in collaboration with people experiencing psychosis and the Royal College of Art, is used outside the clinic to help individuals feel safer in daily life. Paranoia is fuelled ...

Everyone faces stress occasionally, whether in school, at work, or during a global pandemic. However, some cannot cope as well as others. In a few cases, the cause is genetic. In humans, mutations in the OPHN1 gene cause a rare X-linked disease that includes poor stress tolerance. Cold Spring Harbor Laboratory (CSHL) Professor Linda Van Aelst seeks to understand factors that cause specific individuals to respond poorly to stress. She and her lab studied the mouse gene Ophn1, an analog of the human gene, which plays a critical role in developing brain cell connections, memories, and stress tolerance. When Ophn1 was removed in a specific part of the ...

Membranes that allow certain molecules to quickly pass through while blocking others are key enablers for energy technologies from batteries and fuel cells to resource refinement and water purification. For example, membranes in a battery separating the two terminals help to prevent short circuits, while also allowing the transport of charged particles, or ions, needed to maintain the flow of electricity. The most selective membranes - those with very specific criteria for what may pass through - suffer from low permeability for the working ion in the battery, which limits the battery's power and energy efficiency. ...

The landscape of sloping vineyards on the banks of the River Mosel in Germany is a characteristic symbol of a region, which cannot be understood without its wine: the Mosel wine region. Tourists from all over the world, especially from the neighbouring countries of Belgium, Luxembourg, and The Netherlands visit the area in search of mountains and wine. However, the lack of new generations and the increase in temperatures and short heavy summer rainfall events caused by climate change endanger the production of wine. In this sense, the European H2020 ...

It was found that event horses that wear thin or thick bits in events had a greater risk of moderate or severe oral lesions compared to horses wearing medium-sized bits, while straight bits were associated with lesions in the bars of the horse's mouth. "Our recommendation is to use a jointed bit of moderate thickness, that is 14 to 17 millimetres, if the size of the mouth is not known, paying particular attention to the handling of mares and both warmblood and coldblood event horses. They were seen to have a greater risk of mouth lesions compared to geldings and ponies," says doctoral student and veterinarian ...

The global production of sheep's milk is one the rise, in the vast majority of cases used to produce cheese. However, a relatively large amount of milk is needed to produce it, so science is looking for ways to increase its yield; that is, to obtain more cheese using less milk. Immersed in this task, a team from the Department of Animal Production at the University of Cordoba, led by Professor Ana Garzón, has collaborated with the University of Leon in the search for genetic parameters affecting the cheese production of milk from Churra sheep, one of the oldest and most rustic breeds on the Iberian Peninsula. After analysing traits related to rennet and milk properties (pH, ...

The way we move says a lot about the state of our brain. While normal motor behaviour points to a healthy brain function, deviations can indicate impairments owing to neurological diseases. The observation and evaluation of movement patterns is therefore part of basic research, and is likewise one of the most important instruments for non-invasive diagnostics in clinical applications. Under the leadership of computer scientist Prof. Dr Björn Ommer and in collaboration with researchers from Switzerland, a new computer-based approach in this context has been developed at Heidelberg University. As studies inter alia with human test persons have shown, this approach enables the fully automatic ...

It is more complicated than copy and paste, but digital twins could be way of future manufacturing according to researchers from the University of Kentucky. They developed a virtual environment based on human-robot interactions that can mirror the physical set up of a welder and their project. Called a digital twin, the prototype has implications for evolving manufacturing systems and training novice welders. They published their work in the IEEE/CAA Journal of Automatica Sinica (Volume 8, Issue 2, February 2021). "This human-robot interaction working style helps to enhance the human users' operational productivity and ...

To effectively perform any daily task, the human brain needs to process information from the outside world using various cognitive functions. This cognitive processing passes through a dense interconnected network of cells whose physiology is specialized. The interconnected cell network needs to perform this processing of information efficiently and interact cooperatively to provide us, in real time, with useful instructions for living. Research published on 23 March in the journal Proceedings of the National Academy of Sciences of the United States of America challenges recent scientific advances seeking to find out how cognitive control and sensory information relate to the cortical machinery ...

New research has for the first time compared images of the protein spikes that develop on the surface of cells exposed to the Oxford-AstraZeneca vaccine to the protein spike of the SARS-CoV-19 coronavirus. The images show that the spikes are highly similar to those of the virus and support the modified adenovirus used in the vaccine as a leading platform to combat COVID-19. The SARS-CoV-2 virus, which causes COVID-19, has a large number of spikes sticking out of its surface that it uses to attach to, and enter, cells in the human body. These spikes are coated in sugars, known as ...

Researchers at the Francis Crick Institute, as part of an international collaboration of scientists through the Pan-Cancer Analysis of Whole Genomes Consortium, have analysed the whole genomes of tumour samples from over 2,600 patients with different types of cancer. They identified a high prevalence of genetic diversity within individual tumours, which they further characterised. Their findings confirm that, even at late stages of development, tumour evolution is driven by changes that benefit the cancer. When cancer cells divide, errors occur in the process of copying their DNA. These copying errors mean that different tumours can be made up of cells presenting a wide range of genetic diversity. This variation is a challenge for doctors as a treatment that ...