A multi-institutional study has discovered spontaneous mutations in RNF2 (RING2) gene as the underlying cause of a novel neurological disorder. This Undiagnosed Diseases Network (UDN) study was led by Dr. Shinya Yamamoto, investigator at the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children's Hospital and assistant professor at Baylor College of Medicine, and Dr. Vandana Shashi at Duke University Medical Center. Using a combination of comprehensive clinical tests, trio genome sequencing and functional studies in the fruit flies, and global gene matchmaking efforts, the teams found ...

Amsterdam, July 8, 2021 - While the literature on the digital divide has widely addressed the digital gender gap, its potential implications for electronic government (e-government) / digital government research and practice have hardly been studied. In this Special Issue of Information Polity experts characterize the current state of understanding of the issues surrounding digital government and gender and present an agenda for future research. Gender is a neglected topic in the literature on digital government. According to the International Telecommunications Union, women are lagging behind men in making ...

demic have already had a dramatic impact on the prevailing oral health care model and will continue to do so. The paper "Advocacy for a Digital Oral Health That Leaves No One Behind," published in the JDR Clinical & Translational Research (JDR CTR), promotes the use of digital tools to offer opportunities to improve healthy behavior, lower risk factors common to oral diseases and other noncommunicable diseases and contribute to reducing oral health inequalities. To mitigate the impact of the COVID-19 pandemic lockdowns, systems were quickly put in place in most countries to respond to dental emergencies, ...

Consuming a protein supplement, specifically protein hydrolysate, during carbohydrate-restricted training was helpful for improving training intensity in women, but not in men. That's according to new research which will be part of a presentation this week at The Physiological Society's Annual Conference Physiology 2021. Most nutrition guidelines for athletes are based on research in men only. This study, by Tanja Oosthuyse and her colleagues, emphasizes that this shouldn't be the case, because nutritional research findings in men don't always apply to women. While the protein supplement helped training intensity in women, it did not improve training intensity and instead resulted in modest negative effect in men. It made exercise ...

July 8, 2021 - Women with recurrent urinary tract infections (UTIs) experience frustration related to their treatment - particularly the risks from repeated use of antibiotics, according to a focus group study in The Journal of Urology®, Official Journal of the American Urological Association (AUA). The journal is published in the Lippincott portfolio by Wolters Kluwer. "This study was prompted by our experience treating countless women with recurrent UTIs referred to our specialized Female Pelvic Medicine and Reconstructive Surgery center," comments senior author Ja-Hong Kim, MD, of UCLA Center of Women's Pelvic Health. "The vast majority were understandably dissatisfied with their care pathway, which was primarily antibiotic-focused ...

Ibaraki, Japan - Most kids dream of growing up to be astronauts; but the downside of spending extended amounts of time in low gravity is that astronauts' muscles tend to shrink and weaken through disuse. Now, researchers from Japan have identified a protein that affects how muscles respond to space flight. In a study published in June 2021 in Communications Biology, researchers from the University of Tsukuba have revealed that nuclear factor E2-related factor 2, or NRF2, helps keep muscles from becoming weak in low gravity. Muscle atrophy, or weakening, is a common feature of disease and aging. It can also occur after a long period of inactivity, such as during space flight, when astronauts don't need to use their muscles as much as they do on Earth to support ...

Thanks to the rapid development of nanotechnology, a research team led by Profs. NIE Guangjun, WU Yan and ZHAO Yuliang from the National Center for Nanoscience and Technology (NCNST) of the Chinese Academy of Sciences (CAS) recently designed personalized tumor vaccines based on bacterial cytoplasmic membranes and cell membranes from resected tumor tissue. This work was published in Science Translational Medicine. Cancer vaccines are an effective anti-tumor therapeutic option that utilize tumor antigens to stimulate patients' immune response and specifically kill tumor cells. Postoperative recurrence and metastasis after surgery can thus be effectively inhibited by the activated immune system. Therefore, ...

Quantum key distribution (QKD) is a method for secure communication that uses quantum mechanics to encrypt information. While the security of QKD is unbreakable in principle, if it is incorrectly implemented, vital information could still be stolen by attackers. These are known as side-channel attacks, where the attackers exploit weaknesses in the setup of the information system to eavesdrop on the exchange of secret keys. Researchers from the National University of Singapore (NUS) have developed two methods, one theoretical and one experimental, to ensure that QKD communications cannot be attacked in this way. The first is an ultra-secure cryptography protocol that can be deployed in any communication network that needs long-term ...

Researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer. Since 2012, Laura Koehly, Ph.D., and her research team have measured the accessibility and usability of the workbook by working with communities and continually updating the workbook to address issues. Koehly is the chief of the Social ...

A joint research group from KAIST and Institut Pasteur Korea has identified repurposed drugs for COVID-19 treatment through virtual screening and cell-based assays. The research team suggested the strategy for virtual screening with greatly reduced false positives by incorporating pre-docking filtering based on shape similarity and post-docking filtering based on interaction similarity. This strategy will help develop therapeutic medications for COVID-19 and other antiviral diseases more rapidly. This study was reported at the Proceedings of the National Academy of Sciences of ...

Washington, DC (July 6, 2021) --The International Whaling Commission (IWC) was founded to regulate whaling. Today, it also increasingly focuses on the value of live whales for planetary health. A new workshop report confirms the great ecological value of whales to help mitigate climate change, transport nutrients, enhance marine productivity, and promote biodiversity in marine ecosystems. The world's leading experts gathered for a three-day workshop in April that was co-hosted by the IWC and the Convention on the Conservation of Migratory Species of Wild Animals (CMS). The meeting came in response to a 2016 IWC resolution, introduced by the government of Chile, to compile scientific information about the ecological roles of cetaceans (whales and dolphins). The workshop discussions ...

Researchers at the National Cerebral and Cardiovascular Center in Japan show that excessive blood pressure reduction for acute intracerebral hemorrhage is risky in people with decreased kidney function Suita, Japan -- Stroke and chronic kidney disease are both difficult to handle in their own rights, but having a stroke when your kidneys are already poor is more than just double the trouble. A new study led by Kazunori Toyoda at the National Cerebral and Cardiovascular Center (NCVC) in Japan shows that excessive blood pressure reduction for acute intracerebral hemorrhage can have dire consequences when kidney function is low. The study was published in the scientific journal Neurology®. Intracerebral hemorrhage is a disease for which effective treatment is expected ...

Rare-earth compounds have fascinated researchers for decades due to the unique quantum properties they display, which have so far remained totally out of reach of everyday compounds. One of the most remarkable and exotic properties of those materials is the emergence of exotic superconducting states, and particularly the superconducting states required to build future topological quantum computers. While these specific rare-earth compounds, known as heavy fermion superconductors, have been known for decades, making usable quantum technologies out of them has remained a critically ...

A new study suggests sea discoloration data obtained from satellite images as a novel criterion in predicting if eruption looms for an underwater volcano. There have been frequent eruptions of submarine volcanoes in recent years. The past two years alone recorded the explosions of Anak Krakatau in Indonesia, White Island in New Zealand, and Nishinoshima Island in Japan. Observing signs of volcanic unrest is crucial in providing life-saving information and ensuring that air and maritime travel are safe in the area. Although predicting when a volcano will erupt can be difficult as each behaves differently, scientists are on the lookout for these telltale signs: heightened seismic activity, expansion of magma pools, increases in volcanic gas release, ...

A pioneering cultivation strategy that recreates a mangrove environment in the lab has enabled identification of novel bacteria residing in Red Sea mangroves and will help improve understanding of mangrove ecosystem stability, resilience and sustainability. Mangroves are highly productive, dominant coastal ecosystems that line between 60-70 percent of the world's tropical and subtropical coastlines. They harbor diverse microbial communities thought to make up 80 percent of the ecosystem's biomass. Many of the microbial species, families and taxa are unknown to science. The cultivation strategy was developed by a team of KAUST researchers, including Fatmah Sefrji and Ramona Marasco. "Red Sea mangroves are particularly interesting because they represent an extreme and unique ...

The aconitase superfamily currently contains four functional enzymes including the archetypical aconitase (referred to as "other aconitase enzymes"), and one hypothetical aconitase X (AcnX). The aconitase enzymes catalyze the homologous stereospecific isomerization, and their three-dimensional structures and catalytic mechanisms including the [4Fe-4S] iron-sulfur cluster are very similar each other (Fig. 1a). Therefore, the aconitase superfamily (enzymes) is a typical example that is suitable for the so-called "recruitment hypothesis of enzyme evolution"; the gene duplication of multi-specific enzymes, followed by the narrowing of substrate specificity (ref. 1). AcnX (subfamily) is further classified into "AcnXType-I" consisting of a single ...

Researchers at The University of Queensland, working to gain a better understanding of how brain cells work, have discovered the underlying mechanism of a rare genetic mutation that can cause epilepsy. Dr Victor Anggono from UQ's Queensland Brain Institute said his team made the ground-breaking findings while researching nerve cell communications, which are an important process in normal brain function. ''We're both excited and astounded to make such an important contribution to the field of cellular and molecular neuroscience,'' Dr Anggono said. He stressed that the mutation was extremely rare, with only one reported case in the world to date. Dr Anggono's team studied protein structures, called receptors, that ...

A study by researchers in the Scene understanding and artificial intelligence (SUNAI) research group, of the Universitat Oberta de Catalunya's (UOC) Faculty of Computer Science, Multimedia and Telecommunications, has developed a method that can learn to identify mosquitoes using a large number of images that volunteers took using mobile phones and uploaded to Mosquito Alert platform. Citizen science to investigate and control disease-transmitting mosquitoes As well as being annoying because of their bites, mosquitoes can be the carriers of pathogens. Rising temperatures worldwide are facilitating their spread. This is the case with the tiger ...

While the UK was in lockdown, certain species of captive amphibians became more visible, a new study suggests. The COVID-19 pandemic forced the closure of zoos across the UK for several months from March 2020, with gradual re-openings from summer into autumn and winter. These closures provided a team of researchers, from the University of Exeter and WWT Slimbridge Wetland Centre, a unique opportunity to study the effect of visitor presence on several species of amphibian at Slimbridge. The project assessed the number of individuals of six species - common toad, common frog, smooth newt, pool frog, golden mantella and golden poison dart frog - visible to observers while their exhibit was closed, when it partially reopened to more staff and when it reopened to visitors. "Amphibians ...

Lung cancer has the highest mortality rate of all cancers, and treatment options are extremely limited, especially for patients with oncogenic mutations in the KRAS gene. A great deal of hope was invested in the licensing of immune checkpoint inhibitors, but the reality is that some patients respond very well to this treatment while it is completely ineffective in others. In a paper just published in Science Translational Medicine, a MedUni Vienna research group led by Herwig Moll (Center for Physiology and Pharmacology) identified a potential marker for the success of immunotherapy in lung cancer patients and explained the underlying molecular processes. K-Ras it is a monomeric G protein that plays a key role in the growth of malignant ...

When you pour cream into a cup of coffee, the viscous liquid seems to lazily disperse throughout the cup. Take a mixing spoon or straw to the cup, though, and the cream and coffee seem to quickly and seamlessly combine into a lighter color and, at least for some, a more enjoyable beverage. The science behind this relatively simple anecdote actually speaks to a larger truth about complex fluid dynamics and underpins many of the advancements made in transportation, power generation, and other technologies since the industrial era--the seemingly random chaotic motions known as turbulence play a vital role in chemical and industrial ...

The ratios between the lengths of the second and fourth fingers, known as the 2D:4D ratio, are different in males and females, which is often explained by levels of androgens and oestrogens. However, an alternative theory states that men have bigger body parts, including fingers, which impacts the 2D:4D ratio. A research team including HSE University scholars refuted this hypothesis by collecting data on finger length from 7,500 people. The results of the study were published in Scientific Reports. https://www.nature.com/articles/s41598-021-87394-6 The ...

A new study conducted before COVID-19 busted open the leaky pipeline for women in leadership underscores the bias that men are naturally presumed to have leadership potential and women are not and highlights the increased efforts needed by organizations to address the incorrect stereotype post-pandemic. The research published in the journal Frontiers in Psychology highlights the continuing bias in leadership assessments of women, explores the contradictions between the perception and the reality of women's leadership, and shows why the slow rate of career advancement for women will likely continue at a snail's pace. "The impact of the COVID-19 pandemic on women's career progression will likely be felt for years to come as ...

Faba beans are an excellent source of food protein, but about 4% of the world's population are afflicted by favism, which renders them sensitive to the faba bean anti-nutrients vicine and convicine. Now, an international research team has identified the VC1 gene as responsible for the production of these compounds. Faba beans have actually been a source of food protein since pre-historic times, but a fraction of the population, mostly from warm southern regions, cannot tolerate them. Pythagoras and his followers avoided them, and Roman priests of Jupiter ...

You have probably often said to yourself: "This time, I will only buy what I need!" But then you still ended up coming home with things that were not on your shopping list. How can you prevent such impulse buying? A team from the Chair of Psychology II at Julius-Maximilians-Universität (JMU) Würzburg in Bavaria, Germany, looked at this question. The answer is not that simple, says psychologist Dr Anand Krishna. It depends on what type of person you are: a pleasure-seeker or a person who focuses on security. Anand Krishna and his JMU colleagues Sophia Ried and Marie Meixner have published ...