Publisher Health

A routine prenatal ultrasound in the second trimester can identify early signs of Autism Spectrum Disorder (ASD), a new study by Ben-Gurion University of the Negev and Soroka Medical Center has found.
Researchers from the Azrieli National Centre for Autism and Neurodevelopment Research published their findings recently in the peer-reviewed journal Brain.
The researchers examined data from hundreds of prenatal ultrasound scans from the fetal anatomy survey conducted during mid-gestation. They found anomalies in the heart, kidneys, and head in 30% of fetuses who later developed ASD, a three times higher rate than was found in typically developing fetuses from the general population and twice as high as their typically developing siblings.
Anomalies were detected more often in girls than in boys and the severity of the anomalies was also linked to the subsequent severity of ASD.
This study and others will be discussed at the Israeli Meeting for Autism Research to be held February 15-16 at BGU.
Prof. Idan Menashe, a member of the Centre and the Department of Public Health in the Faculty of Health Sciences, led the research with his MD/PhD student Ohad Regev.
“Doctors can use these signs, discernable during a routine ultrasound, to evaluate the probability of the child being born with ASD,” says Prof. Menashe, “Previous studies have shown that children born with congenital diseases, primarily those involving the heart and kidneys, had a higher chance of developing ASD. Our findings suggest that certain types of ASD that involve other organ anomalies, begin and can be detected in utero.”
A previous study of the Centre found early diagnosis and treatment increased social ability by three times as much. Prenatal diagnosis could mean a course of treatment from birth instead of waiting until age 2 or 3 or even later.
The study was conducted as part of Ohad Regev’s doctoral thesis, advised by Prof. Idan Menashe and Prof. Reli Hershkovitz. Additional researchers from Ben-Gurion University and Soroka Medical Center included: Dr. Amnon Hadar, Dr. Gal Meiri, Dr. Hagit Flusser, Dr. Analya Michaelovski, and Prof. Ilan Dinstein.
This study was supported by a grant from the Israel Science Foundation (No. 1092/21) and made use of the National Autism Database supported by the Ministry of Innovation, Science and Technology, and the Azrieli Foundation.
Story Source:
Materials provided by Ben-Gurion University of the Negev. Note: Content may be edited for style and length.

Researchers led by bioengineers at the University of California San Diego have identified and characterized a previously unrecognized key player in cancer evolution: clusters of mutations occurring at certain regions of the genome. The researchers found that these mutation clusters contribute to the progression of about 10% of human cancers and can be used to predict patient survival.
The findings are reported in a paper published Feb. 9 in Nature.
The work sheds light on a class of mutations called clustered somatic mutations — clustered meaning they group together at specific areas in a cell’s genome, and somatic meaning they are not inherited, but caused by internal and external factors such as aging or exposure to UV radiation, for example.
Clustered somatic mutations have so far been an understudied area in cancer development. But researchers in the lab of Ludmil Alexandrov, a professor of bioengineering and cellular and molecular medicine at UC San Diego, saw something highly unusual about these mutations that warranted further study.
“We typically see somatic mutations occurring randomly across the genome. But when we looked closer at some of these mutations, we saw that they were occurring in these hotspots. It’s like throwing balls on the floor and then suddenly seeing them cluster in a single space,” said Alexandrov. “So we couldn’t help but wonder: What is happening here? Why are there hotspots? Are they clinically relevant? Do they tell us something about how cancer has developed?”
“Clustered mutations have largely been ignored because they only make up a very small percentage of all mutations,” said Erik Bergstrom, a bioengineering PhD student in Alexandrov’s lab and the first author of the study. “But by diving deeper, we found that they play an important role in the etiology of human cancer.”
The team’s discoveries were enabled by creating the most comprehensive and detailed map of known clustered somatic mutations. They started by mapping all the mutations (clustered and non-clustered) across the genomes of more than 2500 cancer patients — an effort that in total encompassed 30 different cancer types. The researchers created their map using next-generation artificial intelligence approaches developed in the Alexandrov lab. The team used these algorithms to detect clustered mutations within individual patients and elucidate the underlying mutational processes that give rise to such events. This led to their finding that clustered somatic mutations contribute to cancer evolution in approximately 10% of human cancers.

Flow cytometry is a powerful and complex technology used to count, sort or measure characteristics of cells and to detect biomarkers. It’s also widely used in research, as well as in clinical studies and diagnosis of disorders such as blood cancers. However, flow cytometry requires intact and usually fresh cells, that must be processed promptly to preserve cell integrity and surface markers. Those surface (and a few nuclear) markers are used to identify immune cell types.
Researchers at Dartmouth’s and Dartmouth-Hitchcock’s Norris Cotton Cancer Center (NCCC), in collaboration with the Brown University School of Public Health, University of California, San Francisco (UCSF), and University of Kansas Medical Center (KUMC), introduce a novel immune-profiling method capable of reporting specific immune cell types using only DNA from blood rather than from fresh cell samples. Their method, “Enhanced cell deconvolution of peripheral blood using DNA methylation for high-resolution immune profiling,” is newly published in Nature Communications.
“Our technology requires minimal input to use blood DNA samples stored under different conditions,” says lead author Lucas A. Salas, MD, MPH, PhD, member of NCCC’s Cancer Population Sciences Research Program (CPS) and Assistant Professor of Epidemiology at the Geisel School of Medicine at Dartmouth. “This is ideal in population epidemiological research and potentially for clinical settings where samples cannot be processed immediately.”
“Our paper details a new method that offers a powerful alternative to conventional flow cytometry based on blood DNA rather than intact living cells,” adds co-author John Wiencke of the UCSF Institute for Human Genetics.
The new approach offers the opportunity to ask and answer questions about the immune system in health and disease using the millions of stored blood samples from biobanks in the U.S. and worldwide — samples that already exist for other reasons. In the clinical setting, the complete cell blood count (CBC) differential is used routinely to diagnose patient conditions and is limited to five general immune cell types. In the new method, immune cell identification is extended to include twelve immune cell types, including several that are not determined with CBC, such as naïve and memory T and B cells.
Large-scale human population studies and clinical trials can now access detailed information about individual immune status in a standardized, cost-effective manner, without some of the limitations of existing methods. The advancement paves the way for new research of systemic immune factors in disease and aging. “Not only does the approach return more than double the number of cell types compared with standard clinical methods, but because it doesn’t depend on surface markers or intact cells, it can be used with either fresh or archival blood,” says Salas.
When the method was applied to cancer patients, immune profile responses to chemotherapy and radiation therapy were observed. Corresponding author and CPS co-Director Brock C. Christensen, PhD, is investigating how this new method may help predict response to immunotherapy. “Detailed immune profiling with our new method is expected to uncover biomarkers of response to existing and emerging cancer immunotherapies as well as to other immunomodulatory drugs,” says Christensen. “This technology also has great potential in advancing cancer immunoprevention efforts.”
The team’s next steps are to evaluate the many potential uses for this new tool to understand how it will best and most immediately benefit clinicians and patients. Such technology could elicit a paradigm shift in the way clinicians, patients and researchers harness and understand information about the immune system in health and disease.
Story Source:
Materials provided by Dartmouth-Hitchcock Medical Center. Note: Content may be edited for style and length.

Lost Your Covid-19 Vaccination Card?Azi PaybarahReporting on the coronavirus pandemic Victor J. Blue for The New York TimesOnce you get your records, save them!Take a picture and keep it on your phone (but don’t put it on Instagram).If your record has a QR code, scan it and save it in your digital wallet.

During the COVID-19 pandemic, monitoring the levels of SARS-CoV-2 RNA in wastewater entering treatment plants has been one way that researchers have gauged the disease’s spread. But could the slimy microbial communities that line most sewer pipes affect the viral RNA they encounter? In a first-of-its-kind study, researchers report in ACS ES&T Water that sewer slime can accumulate SARS-CoV-2 RNA, which could decompose or slough off later, potentially impacting the accuracy of wastewater epidemiology studies.
As the water and sludge from people’s homes converge in sewers, some of the solids settle out, and gooey microbial biofilms build up within the pipes. Previous researchers have shown that RNA viruses, such as poliovirus, enteroviruses and noroviruses, can get trapped and collect in this slime. Yet whether the sticky material can also accumulate SARS-CoV-2 viral particles or RNA from wastewater is unknown. Nicole Fahrenfeld and colleagues previously detected the virus’s RNA in sewer deposits from a university dormitory with a low number of COVID-19 cases, but the amount was too low to accurately assess. So, the team wanted to see if biofilms could incorporate SARS-CoV-2 RNA from untreated wastewater during times of low and high COVID-19 incidence.
To grow a simulated sewer slime, the researchers continuously pumped raw wastewater into a cylindrical tank with removable pieces of polyvinyl chloride (PVC) inside. They conducted two 28-day experiments, removing PVC plates every few days to assess the biofilm’s composition. Then the team used the method called reverse transcription quantitative polymerase chain reaction to measure the abundance of SARS-CoV-2 RNA and pepper mottle virus (an indicator of human feces) RNA in the untreated wastewater and the biofilms.
In August and September 2020, the levels of SARS-CoV-2 RNA were too low to accurately measure in both the simulated sewer slime and the wastewater from which it grew. These results align with a low incidence of COVID-19 infections at that time, the researchers say. Then, during November and December 2020, although SARS-CoV-2’s presence in the wastewater itself was still low, its RNA levels increased in the slime. The amount of pepper mottle virus RNA plateaued within the first week of growth, indicating that the rise of SARS-CoV-2 RNA in the biofilm wasn’t because of a boost in fecal volume. Rather, this change reflected the higher number of diagnosed COVID-19 cases in late fall. It’s still too early to know exactly how these biofilms impact wastewater epidemiology studies, since other factors need to be assessed first, say the researchers. For example, the RNA could get broken down, or it could be released into wastewater later on when the biofilms break apart.
The authors acknowledge funding from the U.S. National Science Foundation, the Rutgers Center for COVID-19 Response and Pandemic Preparedness and a Rutgers School of Graduate Studies Acceleration and Completion Fellowship.
Story Source:
Materials provided by American Chemical Society. Note: Content may be edited for style and length.

New research published in the Journal of Sleep Research has examined how sleep might be impacted by media use — such as watching movies, television, or YouTube videos; browsing the Internet; or listening to music — before bed.
In the study, 58 adults kept a diary that recorded information related to time spent with media before bed, location of use, and multitasking. Electroencephalography — tests that detect electrical activity of the brain using small metal discs attached to the scalp — captured parameters such as bedtime, total sleep time, and sleep quality.
Media use in the hour before sleep was associated with an earlier bedtime. If the before-bed use did not involve multitasking and was conducted in bed, it was also associated with more total sleep time. A long use of media associated with later bedtime and less total sleep time.
Sleep quality was unaffected by media use before bed.
“If you are going to use media, like watching TV or listening to music, before bed, keep it a short, focused session and you are unlikely to experience any negative outcomes in your sleep that night,” said lead author Morgan Ellithorpe, PhD, of the University of Delaware.
Story Source:
Materials provided by Wiley. Note: Content may be edited for style and length.

One way in which the body combats COVID-19 is by mutating the coronavirus, making it less harmful. This built-in protective mechanism in cells has a clear connection with decreased viral load in the body, a study from the University of Gothenburg shows.
Mutations are often associated with the emergence of virus variants that are more contagious and pathogenic than their predecessors. However, the current study shows that virus mutations often work in the opposite direction.
Virology researchers at the University’s Sahlgrenska Academy have mapped mutation patterns in the SARS-CoV-2 coronavirus. The results, published in the journal PNAS, indicate that the body’s natural enzyme ADAR1 (adenosine deaminases acting on RNA) impairs reproduction of SARS-CoV-2.
ADAR1, found inside the cells’ protective membrane, can replace the nucleotides, which are the building blocks in the RNA of the virus. Nevertheless, how ADAR1 affects the coronavirus causing COVID-19 it has been unclear to date.
Mutations that benefit us
“Our study shows that there is an inverse relationship between the viral load (the measurable amount of virus in the body) and the extent to which ADAR1 has mutated the virus. We also found that ADAR1-induced mutations are the most common type of SARS-CoV-2 mutation,” says Johan Ringlander, Ph.D. student in virology at Sahlgrenska Academy and the study’s first author.
In particular, the scientists noted that individual patients are often infected with more than one variant of the virus. When mutations in relatively rare virus variants were investigated, it was found that a common mutation in which one nucleotide, guanosine (G), replaces adenosine (A) significantly worsened the reproductive ability of SARS-CoV-2. These mutations are caused by the enzyme ADAR1.
Analyses of more than 200,000 virus strains from patients who were ill with COVID-19 showed that mutations caused by ADAR1 were mainly circulating in summer 2020, when transmission and mortality rates were low in Europe. When transmission and mortality rates were higher, virus variants with ADAR1-induced mutations were uncommon, probably because they were outcompeted by more infectious virus strains.
Helps to clear away
“Our results clarify how the body’s cells can generate mutated virus variants. Mutations can make a virus more infectious, but in most cases the mutations we’ve studied make the virus weaker; instead of spreading, it’s removed from infected cells. These findings suggest that ADAR1 serves as a protective mechanism used by the body to limit viral infections,” Ringlander says.
Michael Kann, Professor of Clinical Virology at Sahlgrenska Academy and chief physician at Sahlgrenska University Hospital, is the main author of the article.
“When SARS-CoV-2 multiplies in the airways, inflammation occurs. Its effects include activation of ADAR1, which in turn reduces the likelihood of the virus infecting other cells. We’re currently investigating whether this protective mechanism may be important in other viral infections as well,” Kann says.
Story Source:
Materials provided by University of Gothenburg. Note: Content may be edited for style and length.

Rapid weight gain in the first and final months of a pregnancy may play a key role in the development of excess fat tissue in children and adolescents — at least if those children are girls, according to a new study from researchers at The University of Texas at Austin.
In the study, published today in the journal Obesity, nutritional sciences researchers looked at more than 300 pregnant women and followed their children from 5 to 14 years old. The researchers connected patterns of weight change in pregnancy to patterns of their children’s body mass index (BMI), waist circumference and body fat percentage changes during childhood and early adolescence.
“We wanted to understand whether different weight change patterns during pregnancy impacted the child’s growth over time or the child’s potential to develop excess fat tissue,” said Beth Widen, assistant professor of nutritional sciences at UT Austin. “For boys, we didn’t really see that much of a difference in their patterns of weight and body size over time. But for girls, we saw some striking differences. This tells us there are differences between the sexes in this area of child growth.”
Weight change in pregnancy generally followed four distinct patterns in this study. One group of pregnant participants in the study lost weight during the first trimester, gained moderately during the second and gained rapidly during the third. A second group experienced slow weight gain across all three trimesters. A third group saw slow weight gain during the first trimester and moderate weight gain through the end of pregnancy. The last group experienced rapid weight gain during the first trimester, followed by slow weight gain during the second and moderate weight gain during the third.
The researchers found that girls born to the fourth group in this study — individuals who gained weight more quickly at the start and end of pregnancy — had the highest body mass index measurements, the largest waist circumferences and the highest body fat percentages from ages 5 to 14. Conversely, girls born to study participants from the first group — individuals who lost weight in the first trimester, and gained moderately in the second trimester and rapidly in the third — had the lowest BMI, waist circumference and body fat percentages in the study.
No clear-cut pregnancy weight and childhood body composition patterns emerged with boys in the study. Widen speculates this may be due to differences between the sexes in growth and development in addition to differences in how boys and girls respond to prenatal exposures.
Researchers emphasize that finding a pattern in children’s body composition from pregnancy and across childhood is not the same as detecting causation, so further research is needed. Weight changes over the course of pregnancies and the relationship to those weight changes in babies and children is an area ripe for more research, Widen believes.
“This study shows us that there may be sex differences in child body composition based on what they are exposed to in utero,” Widen said. “But, really, we believe there is only a small portion of pregnancy weight gain that can be consciously changed — specifically among fat tissue — since much of the weight change is necessary to support the pregnancy. It is possible that these findings are just the start of research that can help us further understand risk factors for childhood obesity and may help us develop more individualized weight gain guidelines that support pregnant people.”
Natalie Burns, Michael Daniels and Grant Backlund of the University of Florida; Rachel Rickman, Saralyn F. Foster, Amy R. Nichols and Radek Bukowski of UT Austin; Lori A. Hoepner, Eliza W. Kinsey, Judyth Ramirez-Carvey, Abeer Hassoun, Frederica P. Perera and Andrew G. Rundle of Columbia University also contributed to this study. This research was funded by grants from the Eunice Kennedy Shriver National Institute of Child Health & Human Development, the National Institute of Environmental Health Sciences (NIEHS) and the U.S. Environmental Protection Agency (EPA) Children’s Environmental Health and Disease Prevention Research Centers, Irving General Clinical Research Center, Educational Foundation of America, John and Wendy Neu Family Foundation, New York Community Trust, the Trustees of the Blanchette Hooker Rockefeller Fund and the National Institutes of Health.
Story Source:
Materials provided by University of Texas at Austin. Note: Content may be edited for style and length.

About one in five Americans who have lost weight have kept those pounds off long-term. A new Cal Poly study powered by machine learning reveals some secrets to how people lose weight and keep it off: persevering despite setbacks; regularly looking back at what their life was like before the weight loss; and remaining focused on their health.
The findings, published Feb. 9 in Obesity: The Journal of The Obesity Society, is the first large-scale study that allowed weight loss maintainers to identify in their own words what helped them succeed. The more than 6,000 participants were WW members who had lost more than 50 pounds on average and kept it off for more than three years. They answered open-ended questions about their motivations (in the past and present) and strategies for maintaining weight loss and the resulting lifestyle changes. Researchers then used machine learning to group responses by topic.
“One of the most impressive findings was how weight-loss maintainers described perseverance in the face of setbacks,” said Suzanne Phelan, a professor in Cal Poly’s Kinesiology and Public Health Department, who led the study. “Weight-loss maintainers saw setbacks as part of their successful journey. Setbacks were not described as failures. They were seen as a temporary interruption in their path. Many weight-loss maintainers described getting back on track at the next meal or the next day and measuring overall success based on long-term goals.”
Results from the open-ended study revealed additional insights into the motivations behind losing weight and keeping it off. Respondents often mentioned such health issues as diabetes and heart conditions. Others cited concerns about mobility, appearance, suggestions from family or friends and the need for change because they often felt tired.
Respondents offered advice to others going through their own health and weight-loss journey. Many said that perseverance was essential in overcoming the inevitable setbacks. They encouraged others to take it day by day, use WW workshops to reset mentally after difficult weeks and embrace long-term goals. Weight-loss maintainers also described consistently tracking food intake as an essential skill within a healthy lifestyle.
The study also demonstrated that weight-loss maintainers: Remain motivated to maintain the weight loss mostly by health and appearance, as well as reflecting on past experiences Believe that the most important changes include reduced pain, medical status, confidence, feeling more at ease and comfortable mentally and physically, fitness and body image Describe the consequences of successful weight loss as challenges related to: the cost of buying new clothes, unexpected criticism from others, sagging skin and the effort needed to keep up a healthy lifestyleThe findings may lead to changing what topics are emphasized when people are counseled on how to maintain weight loss.
“As a lifestyle interventionist and researcher, I’m excited to think about how to promote perseverance, encourage tracking of intake and make changes in medical status more salient during the weight-loss journey,” Phelan said.
Phelan and her co-authors recently published another study that examined food-choice motivations among 4,000 long-term weight-loss maintainers. Their findings, published Dec. 30 in the Journal of Human Nutrition and Dietetics, found that compared to weight-stable individuals with obesity, those who had maintained weight loss made food decisions based more on health and weight control and less on price. Also, weight-loss maintainers were more likely to consider the future consequences of their current behaviors.
“At WW and throughout my clinical experience, I’ve seen firsthand that someone’s mindset and perspective are crucial to help them build healthy habits and drive sustainable weight loss and management,” said Gary Foster, co-author of the study and chief scientific officer at WW. “We hope that these findings encourage other people going through a similar journey and equip them with the tools that they need to optimize their own success.”
This research was supported by a grant from New York-based WW International Inc. and student fellowship support from the William and Linda Frost Fund at California Polytechnic State University in San Luis Obispo.
Story Source:
Materials provided by California Polytechnic State University. Original written by Rachel Henry. Note: Content may be edited for style and length.

An analysis of results from randomized clinical trials reveals that more intensive hypertension treatment may be helpful for preventing or delaying strokes in older adults.
The analysis, which is published by Wiley in the Journal of the American Geriatrics Society, included nine trials involving 38,779 adults with an average age ranging from 66 to 84 years and follow-up times ranging from 2.0 to 5.8 years.
Investigators found that it took 1.7 years to prevent 1 stroke for 200 older persons treated with more intensive hypertension treatment.
For older adults with baseline systolic blood pressures below 150 mmHg, the time to benefit of more intensive hypertension treatment was longer than 1.7 years; for older adults with baseline systolic blood pressure above 190 mmHg, the time to benefit was shorter than 1.7 years.
“While the 2017 American College of Cardiology/American Heart Association guidelines recommend individual risk discussions about hypertension treatment for primary prevention in older adults, there is a critical gap in data about how long a patient needs to receive blood pressure treatment before they will benefit — or the blood pressure treatment’s time to benefit,” said lead author Vanessa S. Ho, MS, of California Northstate University College of Medicine. “A treatment’s time to benefit is an especially important consideration for patients with a limited life expectancy who may experience immediate burdens or harms from any additional medication.”
Story Source:
Materials provided by Wiley. Note: Content may be edited for style and length.