Gene behind freckles, brown hair and blue eyes found

November 23, 2013

boards.weddingbee.comWashington, Nov 23: In the study of Icelanders, researchers uncovered an intricate pathway involving the interspersed DNA sequence, or non-coding region, of a gene that is among a few dozen associated with human pigmentation traits.

It is more common to find people with ancestors from geographic locations farther from the equator, such as Iceland, who have less pigment in their skin, hair and eyes.

The researchers, including scientists from the National Human Genome Research Institute (NHGRI), analysed data from a genome-wide association study (GWAS) of 2,230 Icelanders.

A GWAS compares hundreds of thousands of common differences across individuals' DNA to see if any of those variants are associated with a known trait.

"This study explains a complex molecular pathway that may also contribute insights into skin diseases, such as melanoma, which is caused by the interaction of genetic susceptibility with environmental factors," said NHGRI Scientific Director Dan Kastner.

Researchers focused on the interferon regulatory factor 4 (IRF4) gene, previously associated with immunity. IRF4 makes a protein that spurs production of interferons, proteins that fight off viruses or harmful bacteria.

The researchers noted from genomic databases that the IRF4 gene is expressed at high levels only in lymphocytes, a type of white blood cell important in the immune system, and in melanocytes, specialized skin cells that make the pigment melanin. The new study established an association between the IRF4 gene and the pigmentation trait.

"Genome-wide association studies are uncovering many genomic variants that are associated with human traits and most of them are found in non-protein-coding regions of the genome," said William Pavan, co-author and senior investigator, Genetic Disease Research Branch, NHGRI.

The Icelandic GWAS yielded millions of variants among individuals in the study. The researchers narrowed their study to 16,280 variants located in the region around the IRF4 gene.

They used an automated fine-mapping process to explore the set of variants in IRF4 in 95,085 people from Iceland. The data revealed that a variant in a non-coding, enhancer region that regulates the IRF4 gene is associated with the combined trait of sunlight sensitivity, brown hair, blue eyes and freckles.

The study was reported in the journal Cell.

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Agencies
July 8,2020

Scientists have designed a “catch and kill” air filter which they say can trap the novel coronavirus and neutralise it instantly, an invention that may reduce the spread of COVID-19 in closed spaces such as schools, hospitals and health care facilities, as well as public transit environments like airplanes.

According to the study, published in the journal Materials Today Physics, the device killed 99.8 per cent of the novel coronavirus, SARS-CoV-2, in a single pass through its filter. It said the device, made from commercially available nickel foam heated to 200 degrees Celsius, also killed 99.9 per cent of the spores of the deadly bacterium Bacillus anthracis which causes the anthrax disease.

“This filter could be useful in airports and in airplanes, in office buildings, schools, and cruise ships to stop the spread of COVID-19,” said Zhifeng Ren, a co-author of the study from the University of Houston (UH) in the US.

“Its ability to help control the spread of the virus could be very useful for society,” Ren added.

The researchers said they are also developing a desk-top model for the device which is capable of purifying the air in an office worker’s immediate surroundings. According to the scientists, since the virus can remain in the air for about three hours, a filter that could remove it quickly was a viable plan, and with businesses reopening across the world, they believe controlling the spread in air conditioned spaces was urgent.

The study noted that the novel coronavirus cannot survive temperatures above 70 degrees Celsius, so by making the filter temperature far hotter — about 200 degree Celsius, the researchers said they were able to kill the virus almost instantly.

Ren said the nickel foam met several key requirements. “It is porous, allowing the flow of air, and electrically conductive, which allowed it to be heated. It is also flexible,” the researchers noted in a statement.But they added that nickel foam also had low resistivity, making it difficult to raise the temperature high enough to quickly kill the virus.

The researchers said they solved this problem by folding the foam, connecting multiple compartments with electrical wires to increase the resistance high enough to raise the temperature as high as 250 degrees Celsius. By making the filter electrically heated, rather than heating it from an external source, they said the the amount of heat that escaped from the filter is minimised, allowing air conditioning to function with very low strain.

When the scientists built and tested a prototype for the relationship between voltage/current and temperature, they said it satisfies the requirements for conventional heating, ventilation, and air conditioning (HVAC) systems, and could kill the coronavirus.

“This novel biodefense indoor air protection technology offers the first-in-line prevention against environmentally mediated transmission of airborne SARS-CoV-2, and will be on the forefront of technologies available to combat the current pandemic and any future airborne biothreats in indoor environments,” said Faisal Cheema, another co-author of the study from UH.

The researchers have called for a phased roll-out of the device, “beginning with high-priority venues, where essential workers are at elevated risk of exposure.” They believe the novel device will both improve safety for frontline workers in essential industries and allow nonessential workers to return to public work spaces.

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Agencies
July 2,2020

London, Jul 2: The World Health Organisation says smoking is linked to a higher risk of severe illness and death from the coronavirus in hospitalised patients, although it was unable to specify exactly how much greater those risks might be.

In a scientific brief published this week, the U.N. health agency reviewed 34 published studies on the association between smoking and Covid-19, including the probability of infection, hospitalisation, severity of disease and death.

WHO noted that smokers represent up to 18% of hospitalised coronavirus patients and that there appeared to be a significant link between whether or not patients smoked and the severity of disease they suffered, the type of hospital interventions required and patients' risk of dying.

In April, French researchers released a small study suggesting smokers were at less risk of catching Covid-19 and planned to test nicotine patches on patients and health workers — but their findings were questioned by many scientists at the time who cited the lack of definitive data.

WHO says "the available evidence suggests that smoking is associated with increased severity of disease and death in hospitalized Covid-19 patients. It recommends that smokers quit.

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News Network
June 20,2020

Washington, Jun 20: Pregnant and postpartum women are usually at a high risk of depression and anxiety - one in seven women struggle with symptoms in the perinatal period and the coronavirus pandemic is exacerbating those struggles according to a recent study.

The study was published in Frontiers in Global Women's Health, which found that the likelihood of maternal depression and anxiety has substantially increased during the health crisis.

"The social and physical isolation measures that are critically needed to reduce the spread of the virus are taking a toll on the physical and mental health of many of us," said Dr. Margie Davenport of the University of Alberta, Canada, who co-authored the study.

For new moms, those stresses come with side effects.

"We know that experiencing depression and anxiety during pregnancy and the postpartum period can have detrimental effects on the mental and physical health of both mother and baby that can persist for years," said Davenport.

Such effects can include premature delivery, reduced mother-infant bonding, and developmental delays in infants.

The study surveyed 900 women - 520 of whom were pregnant and 380 of whom had given birth in the past year - and asked about their depression and anxiety symptoms before and during the pandemic.

Before the pandemic began, 29 percent of those women experienced moderate to high anxiety symptoms, and 15 percent experienced depressive symptoms. During the pandemic, those numbers increased - 72 percent experienced anxiety and 41percent experienced depression.

Because lockdown measures have affected daily routines and access to gyms, researchers also asked women whether their exercise habits had changed. Of the women surveyed, 64 percent reduced their physical activity since the pandemic began, while 15 percent increased and 21 percent experienced no change.

Exercise is a known way to ease depression symptoms, so limited physical activity may result in an uptick in depressive symptoms. Indeed, the study found that women who engaged in at least 150 minutes of moderate physical activity a week had significantly lower symptoms of depression and anxiety.

The findings are somewhat limited given the fact that researchers could not survey women before the pandemic began (since they could not know a pandemic would occur). The women surveyed could only offer their pre-pandemic symptoms in hindsight.

Also, while the researchers asked women about their symptoms using validated measures, only mental health care professionals can validly diagnose an individual with depression or anxiety.

The study was specifically interested in the impact of COVID-19 on new moms, but Davenport says maternal mental health is a critical issue no matter the time.

"Even when we are not in a global pandemic, many pregnant and postpartum women frequently feel isolated whether due to being hospitalized, not having family or friends around or other reasons," she said.

"It is critical to increase awareness of the impact of social (and physical) isolation on the mental health of pregnant and postpartum women," Davenport added.

Increased awareness makes diagnosis and treatment - the ultimate goal - more likely.

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