A study of 2,000 patients found whole-exome sequencing to be an effective diagnostic tool, identifying genetic mutations in 25% of cases. The technique was particularly useful for rare genetic events and new mutations contributing to disease.
A recent study found that a region of the genome associated with autism contains genetic variation that evolved in the last 250,000 years, likely playing an important role in disease. This variation is characterized by segments of DNA being deleted or duplicated, a common cause of autism and other conditions.
Researchers have discovered naturally occurring asbestos in Boulder City, Nevada, posing a risk to local residents. The fibrous minerals were found in areas not previously considered at risk, highlighting the need for further investigation into their occurrence and toxicity.
Research finds vitamin D deficiency significantly increases poor brain function and mortality after cardiac arrest. Patients with low vitamin D levels had a sevenfold higher chance of poor neurological outcome and nearly one-third died within six months.
Research suggests that pathological gamblers have a different response to the brain's opioid system, resulting in reduced feelings of euphoria compared to healthy individuals. This altered response may contribute to the addictive nature of gambling.
The European College of Neuropsychopharmacology awards Dick Swaab with the 2014 ECNP Media Award for his book 'We are our Brains'. The award recognises outstanding contributions to destigmatising disorders of the brain. Swaab's work aims to promote a better understanding of brain function and its impact on mental health.
Research found that people born in summer months have a higher chance of developing cyclothymic temperament, characterized by rapid mood swings, compared to those born in winter. Additionally, summer births are associated with a higher incidence of hyperthymic temperament, which is linked to an increased risk of mood disorders.
Researchers successfully used an iPhone application to image the inside of the eye, including in pediatric and immobile patients. The iExaminer system is a portable, inexpensive tool for fundus photography and videography, offering potential for prompt telemedicine consultations with an ophthalmologist.
A new test called trio-CES, which sequences the whole exome of the affected individual and both parents simultaneously, was associated with a significantly higher molecular diagnostic yield (31%) compared to proband-CES (22%). In cases of developmental delay in children, trio-CES had a diagnosis rate of 41% compared to 9% for proband-CES.
A study found that aging and depression are associated with increased expression of the FKBP5 gene, linked to inflammation and cardiovascular risk. This epigenetic change may contribute to the development of age-related diseases.
Researchers from Baylor College of Medicine have made significant breakthroughs in whole exome sequencing, confirming a molecular diagnosis in 25% of patients and identifying rare genetic events as major contributors to disease susceptibility. The technology is expected to revolutionize the field of pediatrics and medicine.
A new agent has been developed to treat overdoses using peritoneal dialysis, which can extract up to a hundred times more toxins from the body than conventional alternatives. This method is especially effective for treating serious liver disease, including cases involving ammonia accumulation in the blood.
Two new pill-only regimens have been developed to treat genotype 1 hepatitis C, with a sustained virological response achieved in 90% of previously untreated patients and 82% of those who failed previous treatment. These regimens show promise as simpler, safer, and faster alternatives to current therapies.
Researchers use 'pool sequencing' to analyze entire groups of organisms, allowing for rapid evolution experiments and discovery of genetic factors influencing aging and disease resistance. The approach provides insights into how evolution works and has potential applications in understanding climate change.
Evolutionary biologist Steven Ramm explores sperm competition as a key driver of reproductive system evolution, highlighting the diversity of sperm cells and their adaptations to compete for fertilization. This research could inform genetic modification to increase fertility in endangered species.
A study by Massachusetts General Hospital found that hospitals struggled to meet guidelines for asthma care, particularly those with weaker scientific evidence. The study suggests that overcrowding and crowding may contribute to the decline in meeting non-level-A recommendations.
A study by University of Wisconsin-Madison researchers found that climate change is causing smaller, southerly distributed bird species to move northwards, altering the composition of winter bird communities in eastern North America. This shift is likely driven by warmer temperatures and changing precipitation patterns.
Researchers found that individuals with severe mental illness use YouTube to share personal stories, strategies for coping, and seek support from others. This natural peer-to-peer connection helps alleviate feelings of loneliness and fosters a sense of hope and community.
Scientists at the University of Birmingham discovered how a rare fungus, Cryptococcus gattii, can infect healthy individuals by exploiting the body's immune response. The fungus triggers a 'division of labour' in its invading cells, allowing it to establish itself and cause life-threatening infections.
A cost-value review of specialty versus traditional drugs found that specialty drugs offered greater gains for patients despite higher costs. Specialty drug coupons helped reduce patient out-of-pocket costs but may decrease insurers' ability to manage drugs.
A University of Georgia study found that disruption of the circadian rhythm, triggered by artificial light exposure, significantly increases breast cancer risk. The researchers analyzed studies on flight attendants who work night shifts and found a higher risk of developing breast cancer.
Researchers discovered how immune cells consume oxygen and restrict bacterial growth in cystic fibrosis patients. This study provides new insights into bacterial behavior and growth in chronic infections.
Tropical Storm Ana is nearing hurricane strength and expected to become a hurricane before reaching the Big Island of Hawaii. The storm's outer clouds are already affecting the island, causing heavy rainfall and potentially life-threatening flash floods and mudslides.
The NIH has awarded over $11 million to support research on using social media to advance the scientific understanding, prevention, and treatment of substance use and addiction. The studies aim to better understand how social media affects behavior and attitudes towards alcohol, tobacco, and other addictive substances.
Researchers have solved a long-standing mystery surrounding Australia's only active volcanic area, which spans over 500 kilometers and has seen more than 400 volcanic events in the last four million years.
A University of Toronto study found that chronic video game players have an advantage in learning new sensorimotor skills compared to non-gamers. Gamers performed better at tracking complex patterns and following repetitive motions, indicating enhanced ability to learn dynamics of new tasks.
The nanocryotron device uses a single layer of niobium nitride deposited on an insulator to create a simple superconducting circuit. By controlling the flow of current through the circuit, it can act as a switch, making it a potential component for digital computers.
Researchers at the University of Bristol used computer simulations to study how bacteria destroy antibiotics, identifying enzymes that break down carbapenems quickly and slowly. This insight will help scientists develop new antibiotics with lower resistance rates.
A recent study by researchers at The Miriam Hospital found that newborns of mothers who smoke cigarettes during pregnancy show lower levels of stress hormones and altered DNA. This may lead to a higher risk of behavior problems and nicotine addiction in later life.
A new study published in Diabetologia found that children infected with enterovirus were 48% more likely to develop type 1 diabetes. The study's results suggest a positive correlation between EV infection and the incidence of type 1 diabetes, which may be driven by environmental factors in regions with high EV prevalence.
New research shows that female rhesus monkeys exhibit a bias toward images of the opposite sex when surrounded by red frames, mirroring human responses. This finding suggests an evolved biological mechanism underlying the 'red effect', which may not be unique to humans.
Researchers found that regular poor trimming can cause residual stress in nails, leading to shape changes and serious conditions. They suggest optimising nail shapes to reduce stress and promote health in both humans and animals.
The Journal of Disaster Medicine and Public Health Preparedness has launched a special issue on Ebola, featuring a clinician primer prepared by Dr. Eric Toner and colleagues. The primer covers the history, epidemiology, microbiology, clinical manifestations, biosafety, prevention, treatment, and experimental vaccines of the Ebola virus.
A study published in Practical Radiation Oncology evaluated the use of image-guided radiation therapy (IGRT) in treating pediatric cancers. The results show that IGRT is commonly used to improve localization and precision in radiation delivery, particularly for tumors near sensitive structures or organs.
A new study published in Journal of Palliative Medicine shows that inpatient palliative care can significantly lower hospitalization costs and the rate of readmissions. By providing expert care to seriously ill patients, hospitals can improve patient outcomes while reducing healthcare expenses.
The Surgical Trauma Series examines the biological mechanisms and clinical implications of large-scale trauma. Researchers discuss the systemic immune response to trauma, its association with reduced resistance to infection, and the role of ageing in influencing survival rates.
Scientists at the University of Bonn have discovered a new signaling pathway that utilizes adenosine to stimulate brown fat cells. This 'browning' process may help convert white fat cells into energy-burning brown cells, potentially aiding in weight loss and reducing the risk of chronic diseases.
A new special feature of Yale's Journal of Industrial Ecology explores how industrial ecology can lead to cost savings and higher profits for businesses. The research highlights the economic and environmental benefits of using life cycle assessment, design for environment, and material flow analysis in supply chains.
Researchers have found that emerging viruses are causing severe disease and mass deaths in many amphibian species, including frogs and salamanders. The viruses, part of the Ranavirus group, are being spread through human activities and are having a devastating impact on entire host communities.
Researchers at UCL discovered that new myelin must be made each time a skill is learned later in life, and its structure changes during practice. The team found that once a new skill has been learnt, it is retained even after myelin production stops.
The University of Hawai`i Cancer Center has received a $3.5 million NCORP grant to improve cancer care and prevention among minority and underserved populations in Hawaii. The grant will fund clinical trials and research aimed at reducing cancer disparities and enhancing patient outcomes.
Researchers from the University of Pennsylvania have discovered that the brain uses geometric relationships to create a mental compass, enabling people to navigate and orient themselves in their environment. The study, led by Russell Epstein and Steven Marchette, used fMRI scans to analyze the retrosplenial complex region of the brain.
A new study found that most youth suicide victims had underlying mental health problems, highlighting the need for increased public awareness and coordination of services. The research identified significant deficits in training, service coordination, and continuity of care among professionals.
Researchers found that some rice-based products for people with celiac disease contain high amounts of total and inorganic arsenic, which can be carcinogenic. The European Union is working to establish maximum quantities of arsenic in these products.
Researchers at Johns Hopkins Bloomberg School of Public Health found that installing calorie-counting signs in stores led to a significant decrease in sugary drink purchases among black adolescents. The study, which lasted six weeks, showed that teens who saw the signs were more likely to choose lower-calorie beverages or smaller sizes.
Researchers have found that protons and neutrons in heavy nuclei have higher-average momentum when paired, contrary to previous theories. This phenomenon has implications for ultra-cold atomic gas systems and neutron stars.
UC Riverside researchers are investigating the mechanisms of auditory hypersensitivity in Fragile X syndrome (FXS), a genetic disorder that affects social impairments, repetitive behaviors, and cognitive deficits. The study aims to identify underlying neural mechanisms and develop new therapeutic targets for FXS and autism.
The Sahel region is experiencing a shrinking margin between supply and demand for primary production, driven by population growth and increasing consumption. The study found that the rate of increase in food needs was 2.2% per year, while crop production remained largely unchanged over the past decade.
A recent study published in Science suggests that global declines in carnivore populations could embolden herbivores to increasingly dine on preferred vegetation, leading to losses in plant and tree biodiversity. The research used GPS tracking and feeding experiments to measure how fear of predators influences herbivore behavior.
First responders trained in simple integrative medicine approaches like acupuncture and biofeedback can provide adjunctive treatment to help relieve patients' pain and stress. The article highlights the potential benefit of modifying these techniques for use in natural disasters and battle zones.
The new map is based on a collaboration between the Woods Hole Research Center and Mexican institutions, integrating field measurements with satellite data to provide continuous estimates of carbon stocks. This biomass map represents an important step forward in accounting for carbon emissions from the land sector in Mexico.
Researchers at Helmholtz-Zentrum Dresden-Rossendorf successfully tested a new model explaining how magnetic fields create astrophysical jets in young stars. The findings suggest that magnetic fields can focus plasma to form jets, potentially leading to breakthroughs in cancer therapy and medical engineering.
Scientists have discovered a new role for Dicer in preventing genome damage caused by collisions during DNA replication. The protein helps free transcription machinery from DNA, preserving the integrity of the genome. This discovery may help explain why mutations in Dicer are associated with increased risk of cancer and aging.
A new study by the University of Virginia challenges two current theories on how simple bacterial cells became mitochondria, proposing that they were initially parasitic. The research uses next-generation DNA sequencing technologies to decode the genomes of 18 bacteria close relatives of mitochondria.
A recent study reveals that two viruses have led to the collapse of three amphibian species and impacted six others in northern Spain, causing severe disease and mass mortality.
The American Association of Petroleum Geologists (AAPG) has received the William B. Heroy Jr. Award for Distinguished Service to AGI. The award acknowledges AAPG's significant contributions to AGI's Education and Outreach, Geoscience Policy, and Environmental programs.
Researchers embark on Operation IceBridge to study changes in Antarctica's ice sheet, glaciers, and sea ice. The mission aims to collect data on the rapid decline of glaciers and variations in sea ice coverage.
A new study published in Epilepsia reports that 76% of caregivers are more likely to have heard of Sudden Unexpected Death in Epilepsy (SUDEP) compared to 65% of patients with epilepsy. SUDEP is a rare but devastating condition that occurs in about 1 in 1,000 individuals with epilepsy each year.
A blood test can help doctors predict which patients with an autoimmune disease are at risk of relapse, potentially preventing kidney failure. Researchers found that autoantibody increases were linked to an 11-fold increased risk of relapse in patients with kidney involvement.
A study published in PLOS Computational Biology found that vegetative patients may have well-preserved brain networks similar to those of healthy adults, indicating possible covert awareness. This discovery could improve clinical assessment and help identify patients who might be aware despite being uncommunicative.