Dutch-French research shows that Optical Genome Mapping (OGM) detects abnormalities in chromosomes and DNA very quickly, effectively and accurately. Sometimes even better than all existing techniques together, as they describe in two proof-of-concept studies published in the American Journal of Human Genetics. This new technique could radically change the existing workflow within cytogenetic laboratories. Human hereditary material is stored in 46 chromosomes (23 pairs). Although those chromosomes are quite stable, changes in number or structure can still occur. A well-known example is Down syndrome, which is caused by an extra ...

A decade's worth of data shows that neonatologists are shifting the type of respiratory support they utilize for preterm infants, a move that could lead to improved health outcomes. Using two large national datasets that included more than 1 million preterm infants, researchers in a new Vanderbilt-led study found that from 2008 to 2018 there was a greater than 10% decrease in the use of mechanical ventilation for this patient population. Concurrently, there was a similar increase in the use of non-invasive respiratory support, such as continuous positive airway pressure (CPAP), for these infants. The ...

(Boston)--The discovery of novel groups or categories within diseases, organisms and biological processes and their organization into hierarchical relationships are important and recurrent pursuits in biology and medicine, which may help elucidate group-specific vulnerabilities and ultimately novel therapeutic interventions. Now a new study introduces a novel computational methodology and an associated software tool called K2Taxonomer, which support the automated discovery and annotation of molecular classifications at multiple levels of resolution from high-throughput bulk and single cell 'omics' data. The study includes a case ...

SILVER SPRING, Md.--Vaccines such as Pfizer, Moderna, Johnson & Johnson and AstraZeneca are designed to prevent severe Coronavirus-19 Disease (COVID-19) due to acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and are highly efficacious. The efficacy is not different in people with and without obesity except for AstraZeneca which is not known, according to a new position statement from The Obesity Society (TOS), the leading scientific membership organization advancing the science-based understanding of the causes, consequences, prevention and treatment of obesity. Trials have demonstrated high efficacy in individuals ...

In a new study on mice, Johns Hopkins Medicine researchers report that using MRI scans to measure blood volume in the brain can serve as a noninvasive way to potentially track the progress of gene editing therapies for early-stage Huntington's disease, a neurodegenerative disorder that attacks brain cells. The researchers say that by identifying and treating the mutation known to cause Huntington's disease with this type of gene therapy, before a patient starts showing symptoms, it may slow progression of the disease. The findings of the study were published May 27 in the journal Brain. "What's exciting about this study is the opportunity to identify a reliable biomarker that can ...

Hamilton, ON (July 7, 2021) - A McMaster University team of researchers recently discovered how, exactly, the COVID-19 vaccines that use adenovirus vectors trigger a rare but sometimes fatal blood clotting reaction called vaccine-induced immune thrombotic thrombocytopenia or VITT. The findings will put scientists on the path of finding a way to better diagnose and treat VITT, possibly prevent it and potentially make vaccines safer. The researchers' article was fast-tracked for publication today by the prestigious journal Nature in its accelerated article preview because of the importance of the research. "Our work also answers important ...

A genetic map of an aggressive childhood brain tumour called medulloblastoma has helped researchers identify a new generation anti-cancer drug that can be repurposed as an effective treatment for the disease. This international collaboration, led by researchers from The University of Queensland's (UQ) Diamantina Institute and WEHI in Melbourne, could give parents hope in the fight against the most common and fatal brain cancer in children. UQ lead researcher Dr Laura Genovesi said the team had mapped the genetics of these aggressive brain tumours for five ...

Some exceptionally gifted people have marked human history and culture. Leonardo, Mozart, and Einstein are some famous examples of this phenomenon. Is talent in a given field a uniquely human phenomenon? We do not know whether gifted bees or elephants exist, just to name a few species, but now there is evidence that talent in a specific field exists, in at least one non-human species: the dog. A new study, just published in Scientific Reports, found that, while the vast majority of dogs struggle to learn object labels (such as the names of their toys), when tested in strictly controlled conditions, a handful of gifted word learner ...

As society moves towards a renewable energy future, it's crucial that solar panels convert light into electricity as efficiently as possible. Some state-of-the-art solar cells are close to the theoretical maximum of efficiency--and physicists from the University of Utah and Helmholtz-Zentrum Berlin have figured out a way to make them even better. In a new study, physicists used a technique known as cross-correlation noise spectroscopy to measure miniscule fluctuations in electrical current flowing between materials inside silicon solar cells. The researchers identified crucial electrical ...

Nature has a vast store of medicinal substances. "Over 50 percent of all drugs today are inspired by nature," says Gisbert Schneider, Professor of Computer-Assisted Drug Design at ETH Zurich. Nevertheless, he is convinced that we have tapped only a fraction of the potential of natural products. Together with his team, he has successfully demonstrated how artificial intelligence (AI) methods can be used in a targeted manner to find new pharmaceutical applications for natural products. Furthermore, AI methods are capable of helping to find alternatives to these compounds that have the same effect but are much easier and therefore cheaper to ...

Researchers at the IBS Center for Quantum Nanoscience at Ewha Womans University (QNS) have shown that dysprosium atoms resting on a thin insulating layer of magnesium oxide have magnetic stability over days. In a study published in Nature Communications they have proven that these tiny magnets have extreme robustness against fluctuations in magnetic field and temperature and will flip only when they are bombarded with high energy electrons through the STM-tip. Using these ultra-stable and yet switchable single-atom magnets, the team has shown atomic-scale control of the magnetic field within ...

Dr Bock, under the mentorship of Distinguished Professor Dietmar Hutmacher, from QUT Centre for Biomedical Technologies, has focused her research on bone metastases from breast and prostate cancers. She developed 3D miniature bone-like tissue models in which 3D printed biomimetic scaffolds are seeded with patient-derived bone cells and tumour cells to be used as clinical and preclinical drug testing tools. The research team investigated their hypothesis that traditional anti-androgen therapy had limited effect in the microenvironment of prostate cancer bone tumours. The team's findings are published in Science Advances. "We wanted to see if the therapy could be a contributor of cancer cells' adaptive responses that fuelled bone ...

A recent study by scientists from Japanese universities has shown that the shape of cell-derived nanoparticles, known as "extracellular vesicles" (EVs), in body fluids could be a biomarker for identifying types of cancer. In the study, the scientists successfully measured the shape distributions of EVs derived from liver, breast, and colorectal cancer cells, showing that the shape distributions differ from one another. The findings were recently published in the journal Analytical Chemistry. Early detection of cancerous tumors in the body is essential for ...

New York, NY (July 6, 2021) - Mount Sinai researchers have uncovered the complex cellular mechanisms of Ebola virus, which could help explain its severe toll on humans and identify potential pathways to treatment and prevention. In a study published in mBio, the team reported how a protein of the Ebola virus, VP24, interacts with the double-layered membrane of the cell nucleus (known as the nuclear envelope), leading to significant damage to cells along with virus replication and the propagation of disease. "The Ebola virus is extremely skilled at dodging the body's immune defenses, and in our study we characterize an important way in which that evasion occurs through disruption of the nuclear envelope, mediated by the VP24 protein," says co-senior ...

QUT PhD researcher Zachariah Schuurs said the research team had identified a new binding site on the SARS-CoV-2 spike protein. "Binding of the CoV-2 spike protein to heparan sulphate (HS) on cell surfaces is generally the first step in a cascade of interactions the virus needs to initiate an infection and enter the cell. "Most research has focused on understanding how HS interacts on the receptor-binding domain (RBD) and furin cleavage site of the SARS-CoV-2 virus's spike protein, as these typically bind different types of drugs, vaccines and antibodies. "We have identified a novel binding site on the N-terminal domain (NTD), a different area of the virus's spike that facilitates the binding of HS. This helps to better understand how the virus ...

A new study of lithium production in a classical nova found a production rate of only a couple of percent that seen in other examples. This shows that there is a large diversity within classical novae and implies that nova explosions alone cannot explain the amount of lithium seen in the current Universe. This is an important result for understanding both the explosion mechanism of classical novae and the overall chemical evolution of the Universe. In the modern world, lithium is used in the rechargeable batteries powering smartphones and other devices. ...

Cheap to produce and long to degrade, plastic was once a manufacturing miracle. Now, plastic is an environmental plague, clogging landfills and choking waterways. A Japan-based research team has turned back to nature to develop an approach to degrading the stubborn substance. Similar to how a protein binds to cellulose in plants or to chitin in crustaceans to initiate decomposition, an engineered protein is on its way to binding to plastic particles in an effort to more efficiently break them down. They published their results on June 29 in ACS Catalysis, a journal of the American Chemical Society. "Polyethylene ...

In two recent articles published in Schizophrenia Bulletin, Sharon Hunter, PhD, an associate professor in the University of Colorado School of Medicine Department of Psychiatry, and M. Camille Hoffman, MD, MSc, an associate professor in the University of Colorado School of Medicine Department of Obstetrics and Gynecology, along with their research group, have uncovered a potential link between choline deficiency in Black pregnant women in the United States and increased risk of developmental and behavioral issues that can evolve into mental illness later in their children's lives. The first article, published in November 2020, is a study, titled, "Black American Maternal Prenatal Choline, Offspring Gestational Age at Birth, and Developmental Predisposition to Mental Illness." The ...

Scientists at KAIST have fabricated a laser system that generates highly interactive quantum particles at room temperature. Their findings, published in the journal Nature Photonics, could lead to a single microcavity laser system that requires lower threshold energy as its energy loss increases. The system, developed by KAIST physicist Yong-Hoon Cho and colleagues, involves shining light through a single hexagonal-shaped microcavity treated with a loss-modulated silicon nitride substrate. The system design leads to the generation of a polariton laser at room temperature, which is exciting because this usually requires cryogenic temperatures. The researchers found another unique and counter-intuitive feature of this design. Normally, energy is lost during laser operation. ...

Australian scientists researching how our immune system responds to COVID-19 have revealed that those infected by early variants in 2020 produced sustained antibodies, however, these antibodies are not as effective against contemporary variants of the virus. The research is one of the world's most comprehensive studies of the immune response against COVID-19 infection. It suggests vaccination is more effective than the body's natural immune response following infection and shows the need to invest in new vaccine designs to keep pace with emerging COVID variants. Published today in PLOS ...

Polymer composite materials that combine magnetic and electrical properties are the subjects of particular attention for modern-day researchers. Their basic property is the ability to convert electric polarization into a magnetic field and vice versa. Although some materials exhibit a much better magnetoelectric effect, polymer-based composites are easier not only to produce but also to modify. Such composites have great potential in a variety of different fields. For example, using them as a basis, scientists can develop surfaces that help cultivate various cells. In this case, polymer composites serve as a substrate through which it is possible to affect the culture using a non-contact and controlled electric charge and morphological properties ...

DANVILLE, Pa. - Having multiple chronic health conditions and living in a rural area were the top two factors affecting increased healthcare system contact among older patients with bladder cancer, a research team has found. The Geisinger-led team evaluated 73,395 Medicare beneficiaries age 66 and older who had been diagnosed with non-muscle-invasive bladder cancer to assess their treatment burden, defined as the number of days the patients had contact with a health system in the year following diagnosis. Nearly two-thirds of the patients had multiple co-existing chronic conditions at the time of bladder cancer diagnosis, as well as other aging-related conditions, including a history of falls, ...

Opioid prescribing preferences and practices among surgical residents and faculty differ, according to a new study published in the journal Surgery. The study, titled "Evaluation of opioid prescribing preferences among surgical residents and faculty," was based on a survey of 56 residents and 57 faculty within the University of Colorado School of Medicine Department of Surgery. In the survey, participants were asked how many oxycodone tablets they would prescribe for 14 common surgical procedures. Answers were compared between residents and faculty, as well as against the Opioid Prescribing Engagement Network (OPEN) guidelines and actual opioids ...

A new screening method that can test the effectiveness of therapeutic molecules designed to 'glue' proteins together in the body has been developed by researchers at the University of Birmingham and the University of Leicester. The research paves the way for drug developers to screen large numbers of potential new drug compounds to discover new treatments for diseases such as breast cancer and Parkinson's disease. The ways in which proteins interact with each other are fundamental to all cell functions. These interactions underpin every function of a healthy body, with any slight change in these interactions resulting in disease. A handful ...

Scientists at the University of Cambridge have identified rare genetic variants - carried by one in 3,000 people - that have a larger impact on the risk of developing type 2 diabetes than any previously identified genetic effect. Type 2 diabetes is thought to be driven in part by inherited genetic factors, but many of these genes are yet unknown. Previous large-scale studies have depended on efficient 'array genotyping' methods to measure genetic variations across the whole genome. This approach typically does a good job at capturing the common genetic differences between people, though individually these each confer only small increases in diabetes ...