Publisher Health

Currently, a lot is known about which genes are responsible for our individual blood groups, however not much is understood about how and why the levels of the blood group molecules differ between one person and another. This can be important for blood transfusion safety. Now a research group at Lund University in Sweden has developed a toolbox that finds the answer — and in doing so, has solved a 50-year-old mystery.
The study was published recently in Nature Communications.
For the past 30 years, the research group in Lund has studied the genetic basis of our many blood groups and their research has laid the foundation of six new blood group systems. On the surface of the red blood cell are found proteins and carbohydrates that are very similar between people.
However, small differences in these molecules have been shown to be due to genetic variants that encode what we know as blood group antigens. What has not been understood until now is why people with the same blood group can have different amounts of a certain blood group antigen on their red blood cells.
“This is important, because if you only have a couple of hundred blood group molecules per cell instead of a thousand or even a million molecules, then there is a risk that they maybe missed in a blood compatibility test, which can affect the safety of a blood transfusion,” explains Martin L Olsson, professor in Transfusion Medicine at Lund University, and consultant within Clinical Immunology and Transfusion Medicine, Region Skåne, who has led the project.
Since routine genetic analysis could not answer this question, the research group turned its attention to a group of proteins called transcription factors. These are molecules that can recognise different “landing” sites in DNA and work a little like a light switch to turn off/turn down genes or get them to express more strongly. Thus, transcription factors are important for the production of different proteins in the cells.
With the help of a series of bioinformatics tools (together called a pipeline) developed by PhD student, Gloria Wu, the researchers could localise nearly 200 landing sites for transcription factors in 33 different blood group genes in our DNA. Then, to test the pipeline to see if the predictions were correct, the group investigated one of the most important transcription factors for red blood cell development to see if there was a genetic change in one of these landing sites. This could give the reason for why a certain blood group was downregulated to a low level.

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Genetic testing that reveals potential cancer risks or other maladies with no regulatory oversight is among the targets of the agency’s proposed review.The Food and Drug Administration said on Friday that it was moving to close what has widely been viewed as a loophole allowing certain lab tests — like those that determine the profile of a tumor or the genetic health of a fetus — to bypass review with virtually no tracking or oversight.The agency proposed a rule that would bring the tests under its regulatory authority, requiring laboratories conducting them to provide data on test accuracy. Hundreds of tests on the market have very little oversight and may be misleading to the public and patients seeking to learn whether they have Lyme disease, Alzheimer’s or will develop cancer.The proliferation of these tests “leaves Americans vulnerable to making important health care choices based on potentially faulty or inaccurate test results,” Dr. Robert Califf, the F.D.A. commissioner, said in a news briefing on Friday.The tests, which included the first ones to detect Covid-19, have been subject to agency concern for 30 years and have been a perennial — yet essentially untouchable — target by lawmakers dating back to former Senators Edward Kennedy and Barack Obama and as recently as this year.Academic medical centers that include labs operating the tests have opposed changes, citing the importance of being nimble in the face of a rapidly changing, pandemic-prone world.Though renewed attention about the tests’ accuracy may be unsettling to patients, there have been few clues available to them — or even to their doctors — about whether the tests were vetted or received thorough F.D.A. oversight, according to Jeff Allen, president of the Friends of Cancer Research, a nonprofit partly funded by pharmaceutical companies.“A rule like this is getting to it at the front end to be sure each test out there meets reliable accuracy standards — so those questions don’t need to be asked,” he said.Mr. Allen said the pathology lab in a hospital may know the origins of a test, but that information is rarely passed on to doctors and patients. He said that his organization was concerned about the accuracy of tests administered to glean the genetic profile of a tumor that led to decisions on treatment.An investigation by The New York Times found that prenatal genetic screening tests were frequently wrong, with many false-positive results.Academic researchers, physicians and the F.D.A. have criticized other, similar tests, as well. Those include tests that are meant to calculate a person’s so-called genetic propensity for developing diabetes or becoming an elite athlete.Doctors have also raised concerns about tests meant to predict the chances of developing Alzheimer’s disease. In 2015, the F.D.A. issued a report about 20 tests of concern, including one to detect ovarian cancer and another for Lyme disease. A longstanding concern about the tests is whether they have misled patients facing decisions about aborting a fetus with a possible genetic abnormality or getting a mastectomy or hysterectomy based on cancer screenings.Opponents of additional F.D.A. oversight say the agency does not have the resources to review and oversee tests for emerging health concerns.Susan Van Meter, president of the American Clinical Laboratory Association, which represents lab companies and test makers, said in a statement that billions of tests were run each year that influence a majority of the decisions made by health providers.The association noted that the only test now available to detect fentanyl mixed with a dangerous animal tranquilizer, xylazine — a combination known as “tranq dope” — is one that would be subject to the new layer of oversight.“F.D.A. seriously risks falling behind on its current public health priorities,” according to the association’s statement released on Friday. The association said it planned to ask the agency to withdraw the proposed rule and said it would continue to work with Congress on the matter.An effort to update oversight of lab tests failed late last year in Congress after advocacy groups spent countless hours on a compromise. Called the Valid Act, the measure was expected to pass in an omnibus budget bill, but ultimately was not included. It was reintroduced earlier this year.The regulatory paths for lab tests generally depend on who is analyzing the test. Tests manufactured by a company and performed by a consumer or health care provider tend to be regulated by the F.D.A., which requires the test maker to evaluate and report on its accuracy.The less regulated tests, known as “lab-developed” tests, tend to be processed at a central location with results transmitted back to consumers or health care providers. Those tests may be overseen by lab experts for Medicare and may also be accredited by the College of American Pathologists.The F.D.A. is not even sure how many lab-developed tests exist.“No one truly knows how many of these tests are out there, or who makes which one, let alone which tests have a track record of inadequate results and problems and which don’t,” said Dr. Jeffrey Shuren, the head of the F.D.A.’s medical device and diagnostics division, during the briefing on Friday.The proposed rule will be open for public comment and likely will be challenged in court, said Jeffrey Shapiro, a lawyer at King & Spalding who represents some labs that have developed tests.He said the lab-developed tests are services or procedures that are already regulated by Medicare officials.“This proposed rule is nothing new, it’s the same dispute that F.D.A. has been having with industry for 30 years,” Mr. Shapiro said. “Major economic questions like this one affecting the health of millions should be decided by Congress, not F.D.A.”The agency also noted how long the debate over these unregulated tests has dragged on, with Dr. Califf acknowledging on Friday that the agency had to deal with how prolific the tests had become.“Laboratory-developed tests play a central role in U.S. health care, and many are similar to other tests that come in to the F.D.A. for review,” Dr. Califf said. “This approach no longer makes sense and puts U.S. patients at risk.”

Grandmother was right: Scrubbing behind the ears and between the toes may help keep the skin in those regions healthy, or so says a new study by a team at the George Washington University.
The microbiome, or the collection of microbes living on and in the human body, are known to play a role in human health and the skin is no different. A new study by a team at the George Washington University has shown that the composition of the skin microbiome varies across dry, moist and oily regions of the skin.
Researchers at the GW Computational Biology Institute wanted to take a closer look at the skin microbiome of healthy people. Marcos Pérez-Losada, an associate professor of biostatistics and bioinformatics at the GW Milken Institute School of Public Health, and his team were interested in testing what they call “the Grandmother Hypothesis.”
Keith Crandall, Director of the Computational Biology Institute and professor of biostatistics and bioinformatics at GW says his grandmother always instructed the kids in his family to “scrub behind the ears, between the toes and in the belly button.” Crandall posited that these hotspots are normally washed less often compared to the skin on the arms or legs and thus may harbor different types of bacteria.
But would the Grandmother Hypothesis hold up if put to the test? Pérez-Losada and Crandall designed an innovative genomics course and then unleashed a team of students to help them find out.
The 129 graduate and undergraduate students were taught to collect their own data-by swabbing certain moist and oily hotspots, behind the ears, between the toes and in the naval. They also collected samples from control dry areas like the calves and forearms.
The students then learned how to extract and sequence the DNA in the skin samples in order to compare the microbes living in the hotspots to those in the control regions.

Numerous studies have shown that leading a fulfilling and satisfying life may improve cognitive function by encouraging health-protective behaviors such as physical activity and reduced stress. Many of these studies assess this relationship from a population level, rather than among individuals.
But a closer look within the general population suggests that life satisfaction may not have a positive effect on all people, according to a new study led by Boston University School of Public Health researchers.
Published in the journal SSM — Mental Health, the study examined psychological well-being among older individuals in the United States and United Kingdom. High life satisfaction was associated with increased cognitive functioning among most individuals, but it was less beneficial for people of low socioeconomic status, in poor health, or experiencing adverse psychological conditions.
The study is the first to examine the effects of psychological well-being on cognitive functioning among older adults. It is important to note that the researchers observed no association of average cognitive effects from psychological well-being at a population level, so without this more granular analysis, the potentially adverse effects of life satisfaction would have been overlooked.
“It was impressive to observe how a relationship with no associations on population average showed underlying differences based on sociodemographic factors, physical health, and psychosocial elements,” says study lead author Toshiaki Komura, a master of public health student at BUSPH.
This new insight emphasizes the importance of considering heterogeneities in public health research to understand who benefits from life satisfaction and who does not.
“Our results indicate that the health benefit of experiencing high life satisfaction may be smaller among socially marginalized groups, so further research is needed to ensure potential interventions have equitable health impacts,” says study senior author Dr.Koichiro Shiba, assistant professor of epidemiology at BUSPH.

Family mealtimes are important for parents and children as a space to communicate, socialize, and build attachment relationships. But it can be difficult for busy parents to balance family and work life. A new study from the University of Illinois Urbana-Champaign explores how parents’ job stress influences their attendance at family mealtimes, and in turn, children’s socioemotional development.
“We all struggle to maintain the balance between work life and family life. But this might be especially challenging for parents, who are engaging in childcare after a busy and stressful day at work. And when it comes to co-parenting in dual-earner families, which comprises 65% of families with children in United States, we do not know much about how mothers and fathers share caregiving roles under work stress,” said lead author Sehyun Ju, doctoral student in the Department of Human Development and Family Studies (HDFS) in the College of Agricultural, Consumer and Environmental Sciences (ACES) at U. of I.
The study included data from more than 1,400 dual-earner families, consisting of heterosexual married couples with children, in a nationally representative survey that traced children’s development across family, home, child care, and school environments from 9 months to kindergarten. The researchers focused on the interplay of child characteristics, family mealtimes, and parents’ job and financial dissatisfaction.
“We found that children of parents who expressed higher work-related stress when the children were 2 years old had lower socioemotional competency at age 4 to 5, measured by lower positive and higher negative social behaviors,” Ju explained.
There were significant differences regarding the impact of mothers’ and fathers’ work stress. For mothers, higher job dissatisfaction did not impact frequency of family mealtimes; however, it was directly associated with lower socioemotional competency in their children.
On the other hand, fathers who had higher job and financial dissatisfaction were less likely to attend family mealtimes with their children, and this in turn resulted in the children having lower socioemotional competency at age 4 to 5.
“Even when the mother increased her mealtime presence to compensate for the father’s absence, the child’s socioemotional development was still negatively impacted. This indicates fathers may have a unique influence that cannot be replaced by the mother. Future intervention programs should help both parents obtain a better balance between work and family, and highlight the importance of family routines to promote healthy child development,” stated co-author Qiujie Gong, a doctoral student in HDFS.

Forget walking 10,000 steps a day. Taking at least 50 steps climbing stairs each day could significantly slash your risk of heart disease, according to a new study from Tulane University.
The study, published in Atherosclerosis, found that climbing more than five flights of stairs daily could reduce risk of cardiovascular disease by 20%.
Atherosclerotic cardiovascular disease (ASCVD) along with coronary artery disease and stroke are the leading causes of morbidity and mortality worldwide.
“Short bursts of high-intensity stair climbing are a time-efficient way to improve cardiorespiratory fitness and lipid profile, especially among those unable to achieve the current physical activity recommendations,” said co-corresponding author Dr. Lu Qi, HCA Regents Distinguished Chair and professor at the Tulane University School of Public Health and Tropical Medicine. “These findings highlight the potential advantages of stair climbing as a primary preventive measure for ASCVD in the general population.”
Using UK Biobank data collected from 450,000 adults, the study calculated participants’ susceptibility to cardiovascular disease based on family history, established risk factors and genetic risk factors and surveyed participants about their lifestyle habits and frequency of stair climbing. Median follow-up time was 12.5 years.
The study found that climbing more stairs daily especially reduced risk of cardiovascular disease in those who were less susceptible. However, Qi said the increased risk of heart disease in more susceptible people could be “effectively offset” by daily stair climbing.
Qi touted the public availability of stairs as a low-cost, accessible way to incorporate exercise into daily routines.
“This study provides novel evidence for the protective effects of stair climbing on the risk of ASCVD, particularly for individuals with multiple ASCVD risk factors,” Qi said.

A new wearables study tracking over 25,000 people provides the best evidence yet that short bouts of incidental activity, the kind we do as part of daily living, could reduce risk of heart attack, stroke and even premature death — but the length of activity and intensity matters.
“From walking up the stairs to speedily mopping the floors; in recent years we’ve come to understand that it is not just structured exercise that is good for our health, but we know very little about how these short bouts of incidental activity translate to health benefits,” said the study’s senior author Professor Emmanuel Stamatakis from the University of Sydney’s Charles Perkins Centre.
In a study published in The Lancet Public Health today, a University of Sydney led team of international researchers with collaborators from University College London, University of Glasgow, University of Edinburgh, Loughborough University and University of Oxford set out to answer that question.
They used wrist-worn wearables data from the UK Biobank and machine learning to analyse the seven-day incidental physical activity patterns of 25, 241 UK adults aged 42 to 78, down to a 10-second time window. They then linked these physical activity micropatterns with participants’ health records, following them for close to eight years to identify how length and intensity of physical activity bouts were linked to health status.
In this cohort of people who self-reported no participation in exercise or sport they found; 97% of incidental physical activity was accrued in bouts lasting

Young people who are in higher education in England face a small increased risk of depression and anxiety, compared to their peers who are not attending higher education, finds a new study led by UCL researchers.
The research paper, published in The Lancet Public Health, is the first to find evidence of higher levels of depression and anxiety among higher education students compared with their peers.
The authors found that by age 25, the difference had disappeared between graduates and non-graduates.
Lead author Dr Gemma Lewis (UCL Psychiatry) said: “In recent years in the UK we have seen an increase in mental health problems among young people, so there has been an increased focus on how to support students. Here we have found concerning evidence that students may have a higher risk of depression and anxiety than their peers of the same age who are not in higher education.
“The first couple of years of higher education are a crucial time for development, so if we could improve the mental health of young people during this time it could have long term benefits for their health and wellbeing, as well as for their educational achievement and longer-term success.”
The researchers used data from the Longitudinal Studies of Young People in England (LSYPE1 and LSYPE2). The first study included 4,832 young people born in 1989-90, who were aged 18-19 in the years 2007-9. The second study included 6,128 participants born in 1998-99, who were aged 18-19 in the years 2016-18 (i.e., prior to the disruption of the COVID-19 pandemic). In both studies, just over half attended higher education.
Participants in the studies have completed surveys about their general mental health, to investigate symptoms of depression, anxiety, and social dysfunction, at multiple time points over the years.

In 2009, a mysterious fungus emerged seemingly from out of thin air, targeting the most vulnerable among us. It sounds like Hollywood, but the fungus in question poses a very real threat. Scientists are scrambling to figure out what makes the life-threatening fungus Candida auris tick — and why even the best infection control protocols in hospitals and other care settings often fail to get rid of it.
Researchers at U-M have zeroed in on C. auris’ uncanny ability to stick to everything from skin to catheters and made a startling discovery.
The investigative team, led by Teresa O’Meara, Ph.D. of the U-M Medical School Department of Microbiology and Immunology and her graduate student Darian Santana, has discovered that C. auris is unlike any other known fungus in that it employs a type of protein, called an adhesin, that acts very similar to those used by oceanic organisms, such as barnacles and mollusks.
Their original hypothesis was that C. auris would use an adhesin from the families of sticky proteins used by other fungi like C. albicans. However, when they checked the usual suspects, namely proteins from the highly conserved ALS and IFF/HYR families, they came up mostly short, except for one protein, IFF4109, with a partial affect.
They then pivoted to a different screening method to systematically break the genome of C. auris and see which mutant lost its ability to stick to 96-well plastic plates — leading to the discovery of a new adhesin they named Surface Colonization Factor (SCF1).
“The new adhesin is only present in C. auris so we don’t know where it came from evolutionarily. It doesn’t look like it came from any other organisms by sequence similarity,” said O’Meara. The bonds formed by Scf1, they revealed, are cation-pi bonds, which are among the strongest non-covalent chemical bonds in nature.
Said O’Meara, “Much of the literature about this type of bond in nature comes from people trying to bioengineer glue that adheres underwater. Hence, they’ve looked to nature for inspiration.”
Furthermore, the team discovered that SCF1 was associated with increased colonization and an enhanced ability to cause disease. Using mouse models, they demonstrated that a loss of both SCF1 and IFF4109 diminished the ability of a strain of C. auris to colonize skin and an in-dwelling catheter. What’s more, strains designed to over express SCF1 saw enhanced virulence and more fungal lesions.