Ciliopathies are genetic disorders caused by defects in the structure and function of cilia, microtubule-based organelles present on the surface of almost every cell in the human body which play crucial roles in cell signalling. Ciliopathies present a wide range of often severe clinical symptoms, frequently affecting the head and face and leading to conditions such as cleft palate and micrognathia (an underdeveloped lower jaw that can impair feeding and breathing). While we understand many of the genetic causes of human ciliopathies, they are only half the story: the question remains as to why, at a cellular level, defective cilia cause developmental craniofacial abnormalities. Researchers have now discovered that ciliopathic micrognathia in an animal model results from abnormal skeletal ...

Years of suffering and billions of euro in global health care costs, arising from osteoporosis-related bone fractures, could be eliminated using big data to target vulnerable patients, according to researchers at Lero, the Science Foundation Ireland Research Centre for Software. A study of 36,590 patients who underwent bone mineral density scans in the West of Ireland between January 2000 and November 2018, found that many fractures are potentially preventable by identifying those at greatest risk before they fracture, and initiating proven, safe, low-cost effective interventions. The multi-disciplinary study, ...

Long held in a private collection, the newly analysed tooth of an approximately 9-year-old Neanderthal child marks the hominin's southernmost known range. Analysis of the associated archaeological assemblage suggests Neanderthals used Nubian Levallois technology, previously thought to be restricted to Homo sapiens. With a high concentration of cave sites harbouring evidence of past populations and their behaviour, the Levant is a major centre for human origins research. For over a century, archaeological excavations in the Levant have produced human ...

A recent study finds that the invasive spotted wing drosophila (Drosophila suzukii) prefers to lay its eggs in places that no other spotted wing flies have visited. The finding raises questions about how the flies can tell whether a piece of fruit is virgin territory - and what that might mean for pest control. D. suzukii is a fruit fly that is native to east Asia, but has spread rapidly across North America, South America, Africa and Europe over the past 10-15 years. The pest species prefers to lay its eggs in ripe fruit, which poses problems for fruit growers, since consumers don't want to buy infested fruit. To avoid consumer rejection, there are extensive measures in place to avoid infestation, and to prevent infested ...

Aalto researchers have used an IBM quantum computer to explore an overlooked area of physics, and have challenged 100 year old cherished notions about information at the quantum level. The rules of quantum physics - which govern how very small things behave - use mathematical operators called Hermitian Hamiltonians. Hermitian operators have underpinned quantum physics for nearly 100 years but recently, theorists have realized that it is possible to extend its fundamental equations to making use of Hermitian operators that are not Hermitian. The new equations describe a universe with its own peculiar set of rules: for example, by looking in the ...

It was tens of miles wide and forever changed history when it crashed into Earth about 66 million years ago. The Chicxulub impactor, as it's known, left behind a crater off the coast of Mexico that spans 93 miles and goes 12 miles deep. Its devastating impact brought the reign of the dinosaurs to an abrupt and calamitous end by triggering their sudden mass extinction, along with the end of almost three-quarters of the plant and animal species then living on Earth. The enduring puzzle has always been where the asteroid or comet that set off the destruction originated, and how it came to strike the Earth. And ...

The UK's commercial fishing industry is currently experiencing a number of serious challenges. However, a study by the University of Plymouth has found that managing the density of crab and lobster pots at an optimum level increases the quality of catch, benefits the marine environment and makes the industry more sustainable in the long term. Published today in Scientific Reports, a journal published by the Nature group, the findings are the result of an extensive and unprecedented four-year field study conducted in partnership with local fishermen off the coast of southern England. Over a sustained period, researchers exposed sections of the seabed to differing densities of pot fishing and monitored any impacts using a combination of underwater videos and catch ...

It forever changed history when it crashed into Earth about 66 million years ago. The Chicxulub impactor, as it's known, left behind a crater off the coast of Mexico that spans 93 miles and runs 12 miles deep. Its devastating impact brought the reign of the dinosaurs to an abrupt and calamitous end by triggering their sudden mass extinction, along with the end of almost three-quarters of the plant and animal species living on Earth. The enduring puzzle: Where did the asteroid or comet originate, and how did it come to strike Earth? Now, a pair of researchers at the Center for Astrophysics | Harvard & Smithsonian believe they have the answer. In a study published today in Nature's Scientific Reports, Harvard University ...

When the Covid-19 pandemic struck in early 2020, doctors and researchers rushed to find effective treatments. There was little time to spare. "Making new drugs takes forever," says Caroline Uhler, a computational biologist in MIT's Department of Electrical Engineering and Computer Science and the Institute for Data, Systems and Society, and an associate member of the Broad Institute of MIT and Harvard. "Really, the only expedient option is to repurpose existing drugs." Uhler's team has now developed a machine learning-based approach to identify drugs already on the market that could ...

A new study finds that California's commuters are likely inhaling chemicals at levels that increase the risk for cancer and birth defects. As with most chemicals, the poison is in the amount. Under a certain threshold of exposure, even known carcinogens are not likely to cause cancer. Once you cross that threshold, the risk for disease increases. Governmental agencies tend to regulate that threshold in workplaces. However, private spaces such as the interior of our cars and living rooms are less studied and less regulated. Benzene and formaldehyde -- both used in automobile manufacturing -- are known to cause cancer at or above certain levels of ...

Far underneath the ice shelves of the Antarctic, there's more life than expected, finds a recent study in the journal Frontiers in Marine Science. During an exploratory survey, researchers drilled through 900 meters of ice in the Filchner-Ronne Ice Shelf, situated on the south eastern Weddell Sea. At a distance of 260km away from the open ocean, under complete darkness and with temperatures of -2.2°C, very few animals have ever been observed in these conditions. But this study is the first to discover the existence of stationary animals - similar to sponges and potentially several previously unknown species - attached to a boulder on the sea floor. "This discovery is one of those ...

ANN ARBOR, Mich. - A third of parents say the COVID-19 pandemic has made it difficult to get dental care for their children, a new national poll suggests. But some families may face greater challenges than others. Inability to get a dentist appointment during the pandemic was three times as common for children with Medicaid versus those with private dental coverage, according to the C.S. Mott Children's Hospital National Poll on Children's Health at Michigan Medicine. "Regular preventive dental care helps keep children's teeth healthy and allows providers to address any tooth decay ...

We find routes to destination and remember special places because there is an area somewhere in the brain that functions like a GPS and navigation system. When taking a new path for the first time, we pay attention to the landmarks along the way. Owing to such navigation system, it becomes easier to find destinations along the path after having already used the path. Over the years, scientists have learned, based on a variety of animal experiments, that cells in the brain region called hippocampus are responsible for spatial perception and are activated in discrete positions ...

Lipids are the building blocks of a cell's envelope - the cell membrane. In addition to their structural function, some lipids also play a regulatory role and decisively influence cell growth. This has been investigated in a new study by scientists at Martin Luther University Halle-Wittenberg (MLU). The impact of the lipids depends on how they are distributed over the plasma membrane. The study was published in "The Plant Cell". If plant cells want to move, they need to grow. One notable example of this is the pollen tube. When pollen lands on a flower, the pollen tube grows directionally into the female reproductive organs. This allows the male gametes to be delivered, so fertilisation can occur. The pollen tube is special ...

An international team of scientists has sequenced the genome of a capuchin monkey for the first time, uncovering new genetic clues about the evolution of their long lifespan and large brains. Published in PNAS, the work was led by the University of Calgary in Canada and involved researchers at the University of Liverpool. "Capuchins have the largest relative brain size of any monkey and can live past the age of 50, despite their small size, but their genetic underpinnings had remained unexplored until now," explains Professor Joao Pedro De Magalhaes, who researches ageing at the University of Liverpool. The researchers developed and annotated a reference assembly for white-faced ...

Aspirin should be favoured over warfarin to prevent blood clotting in children who undergo a surgery that replumbs their hearts, according to a new study. The research, led by the Murdoch Children's Research Institute (MCRI) and published in The Journal of Thoracic and Cardiovascular Surgery, will have implications for clinicians when prescribing blood thinning medications after Fontan surgery, a complex congenital heart disease operation redirecting blood flow from the lower body to the lungs. The Fontan procedure is offered to children born with severe heart defects, allowing the child to live with just one pumping heart chamber ...

In a SWOG Cancer Research Network trial that put three targeted drugs to the test, the small molecule inhibitor cabozantinib was found most effective in treating patients with metastatic papillary kidney cancer - findings expected to change medical practice. These findings will be presented at ASCO's virtual 2021 Genitourinary Cancers Symposium on Feb. 13, 2021 at 1 p.m. ET. The findings will be simultaneously published in The Lancet. There are currently no effective treatments for metastatic papillary kidney cancer, or metastatic pRCC, a rare subtype of kidney cancer. One study of 38 patients found that the average survival ...

Lenvatinib plus pembrolizumab yields better overall survival than single-agent sunitinib when given as first-line therapy in untreated patients with metastatic kidney cancer The combination also improved progression-free survival and overall response rate BOSTON - Patients with advanced kidney cancer, who received a targeted drug combined with a checkpoint-blocker immunotherapy agent had longer survival than patients treated with the standard targeted drug, said an investigator from Dana-Farber Cancer Institute, reporting results from a phase 3 clinical trial. The survival benefit demonstrates that an immune checkpoint inhibitor together with a targeted kinase inhibitor drug "is important ...

A test that monitors blood levels of DNA fragments released by dying tumor cells may serve as an accurate early indicator of treatment success in people in late stages of one of the most aggressive forms of skin cancer, a new study finds. Led by NYU Grossman School of Medicine and Perlmutter Cancer Center researchers, the investigation looked at adults with undetectable levels of freely circulating tumor DNA (ctDNA) four weeks into drug treatment for metastatic melanoma tumors that cannot be removed surgically (unresectable). The study showed that these patients, all of whom had common genetic changes (BRAFV600 mutations) linked to cancer, were living ...

Peer-reviewed / Review, Survey and Opinion piece To ensure an effective global immunisation strategy against COVID-19, vaccines need to be produced at scale, priced affordably, and allocated globally so that they are available where needed, and successfully rolled out. Review of evidence includes a comparison of 26 leading vaccines on their potential contribution to achieving global vaccine immunity, and a new survey of COVID-19 vaccine confidence in 32 countries. Having new COVID-19 vaccines will mean little if people around the world are unable to get vaccinated in a timely manner. ...

A new study from Washington University School of Medicine in St. Louis demonstrates that a liquid biopsy examining blood or urine can help gauge the effectiveness of therapy for colorectal cancer that has just begun to spread beyond the original tumor. Such a biopsy can detect lingering disease and could serve as a guide for deciding whether a patient should undergo further treatments due to some tumor cells evading an initial attempt to eradicate the cancer. The study appears online Feb. 12 in the Journal of Clinical Oncology Precision Oncology, a journal of the American Society of Clinical Oncology. While a few liquid biopsies have been approved ...

FOR IMMEDIATE RELEASE Scientists have yet to answer the age-old question of whether or how sound shapes the minds of fetuses in the womb, and expectant mothers often wonder about the benefits of such activities as playing music during pregnancy. Now, in experiments in newborn mice, scientists at Johns Hopkins report that sounds appear to change "wiring" patterns in areas of the brain that process sound earlier than scientists assumed and even before the ear canal opens. The current experiments involve newborn mice, which have ear canals that open 11 days after birth. In human fetuses, the ear canal opens prenatally, at about 20 weeks gestation. The findings, published online Feb. 12 in END ...

A more aggressive approach to treating acne that marries the disciplines of psychology and dermatology is needed, according to two UC Riverside psychology researchers. They also assert that women and people with darker skin disproportionately suffer from acne's psychological impacts. "Acne is pervasive, physically harmless, and painless, so we all-too-often underestimate its impacts as the quintessential nuisance of adolescence and puberty," said UCR psychology professor Misaki Natsuaki, who authored the paper along with Tuppett Yates, also a UCR psychology professor. The insinuation, including by developmental scientists, can be that hurtful monikers such as "pizza face" and "crater face" are best shrugged off. But psychological ...

Using observations from NASA's Transiting Exoplanet Survey Satellite (TESS), an international team of astronomers has discovered a trio of hot worlds larger than Earth orbiting a much younger version of our Sun called TOI 451. The system resides in the recently discovered Pisces-Eridanus stream, a collection of stars less than 3% the age of our solar system that stretches across one-third of the sky. The planets were discovered in TESS images taken between October and December 2018. Follow-up studies of TOI 451 and its planets included observations made in 2019 and 2020 using NASA's Spitzer Space Telescope, ...

Masks help protect the people wearing them from getting or spreading SARS-CoV-2, the virus that causes COVID-19, but now researchers from the National Institutes of Health have added evidence for yet another potential benefit for wearers: The humidity created inside the mask may help combat respiratory diseases such as COVID-19. The study, led by researchers in the NIH's National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), found that face masks substantially increase the humidity in the air that the mask-wearer breathes in. This higher level of humidity in inhaled air, the researchers suggest, could help explain why wearing masks has been linked to lower disease severity in people infected with SARS-CoV-2, because hydration of the respiratory ...