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A collaborative team of scientists led by Mayo Clinic’s Center for Individualized Medicine has discovered 15 additional genetic mutations in the KCNK9 gene that cause a neurodevelopmental syndrome. Symptoms of the disorder range from speech and motor impairment to behavioral abnormalities, intellectual disability and distinctive facial features.
“Until now, only one genetic alteration in the KCNK9gene was known to cause the disorder, called KCNK9 imprinting syndrome. Our study describes 15 new genetic alterations,” says Margot Cousin, Ph.D., a translational genomics researcher in Mayo Clinic’s Center for Individualized Medicine and the study’s lead author.
Through the new study, which is published in Genome Medicine, 21 families with a genetic variant in KCNK9 received a definitive genetic diagnosis. While no specific treatment is available for KCNK9 imprinting syndrome, Dr. Cousin says her team’s discovery could guide therapeutic development.
“We can now provide more patients with an answer to the root cause of their disease, which is the most important first step toward finding a cure,” Dr. Cousin says.
The KCNK9 gene provides instructions for making a specialized transport protein called TASK3, which regulates the activity of neurons in the brain. The KCNK9 imprinting syndrome occurs when there is a mutation in the copy of the gene inherited from the mother. The gene from the father is always silenced.
A pathogenic variant in the KCNK9 gene alters the TASK3 protein channel, which disrupts normal neuron development. When the TASK3 protein channel is functioning properly, it maintains the cell’s ability to generate electrical signals and regulate the activity of cells.

Three out of every four teens aren’t getting enough exercise, and this lack is even more pronounced among female students.
But new research from the University of Georgia suggests improving a school’s climate can increase physical activity among adolescents.
School environments play a critical role in helping children develop healthy behaviors, like creating healthy eating habits, said lead study author Janani R. Thapa. And the same goes for physical activity.
“The length of recess, physical facilities and social environments at schools have been found to affect physical activity among students,” said Thapa, an associate professor of health policy and management at UGA’s College of Public Health.
The state of Georgia has implemented policies and programs to boost physical activity in K-12 schools. Thapa has been one of the lead evaluators of these programs.
“Over time, the state has observed declining levels of physical activity among all adolescents, but the rate is higher among female middle and high school students,” she said.

Investigators from Cedars-Sinai Cancer have discovered that cancerous tumors called soft-tissue sarcomas produce a protein that switches immune cells from tumor-attacking to tumor-promoting. The study, published today in the peer-reviewed journal Cell Reports, could lead to improved treatments for soft-tissue sarcomas.
The researchers focused on the tumor microenvironment — an ecosystem of blood vessels and other cells recruited by tumors to supply them with nutrients and help them survive.
“Tumors also recruit immune cells,” said Jlenia Guarnerio, PhD, a research scientist with Cedars-Sinai Cancer, assistant professor of Radiation Oncology and Biomedical Sciences and senior author of the study. “These immune cells should be able to recognize and attack the tumor cells, but we found that the tumor cells secrete a protein that changes their biology, so instead of killing tumor cells they actually do the opposite.”
Soft-tissue sarcoma is a rare type of cancer that forms in the muscle, fat, blood vessels, nerves, tendons and joint lining. It most commonly occurs in the arms, legs and abdomen, and kills more than 5,000 people in the U.S. each year, according to the American Cancer Society.
In comparing samples of a variety of soft-tissue sarcomas in humans and laboratory mice, Guarnerio and her team noted that most of these tumors have an abundance of immune cells called myeloid cells in their microenvironment.
“It was striking that such a large percentage of the immune cells were myeloid cells, and we thought that since they obviously weren’t killing the tumor cells, they must be doing something to promote tumor growth,” said Stephen Shiao, MD, PhD, division director of the Division of Radiation Biology, co-leader of the Translational Oncology Program and a co-author of the study. “And indeed, our analysis of tumor samples showed that many of the myeloid cells had adopted a tumor-promoting function.”
To find out what was causing this change, investigators examined the proteins secreted by the tumor cells and the receptors on the surface of the myeloid cells — the elements cells use to communicate. “We examined the cross-talk between these two populations of cells,” Guarnerio said. “We found that the tumor cells expressed high levels of a protein called macrophage migration inhibitory factor [MIF], and that the myeloid cells had receptors to sense the MIF proteins. This makes them switch their biology and promote, rather than block, tumor growth.”

The gelatin in the skin of Pacific whiting, an abundant fish on the Pacific Coast of North America, may help prevent skin wrinkling caused by ultraviolet radiation, a new Oregon State University study found.
Pacific whiting is caught in large volumes in the United States but consumers have little familiarity with the mild, white meat fish also known as hake. It is popular in Europe, though, where it is the eighth most consumed species. In the U.S., the 10 most-consumed species account for 77% of total per capita seafood consumption and Pacific whiting is not among the top 10.
By studying Pacific whiting. Jung Kwon, an assistant professor at Oregon State’s Seafood Research & Education Center in Astoria, Oregon, is looking to change that and alleviate pressure on stocks of those 10 species, which include salmon and tuna.
She studies marine organisms and their potential to improve human health and is particularly interested in the benefits from parts of marine organisms such as fish skin, which many U.S. consumers choose to discard rather than eat.
“Fish skins are an abundant resource that we already know have valuable nutritional properties,” Kwon said. “But we wanted to find out what additional potential value might be found in something traditionally considered a byproduct.”
In a paper recently published in the journal Marine Drugs, Kwon and a team of researchers looked at molecular pathways that contribute on a cellular level to the wrinkling of skin. That wrinkling is promoted by chronic exposure to ultraviolet light, which breaks down collagen in the skin.
The researchers extracted gelatin from Pacific whiting fish and then looked at what impact it had on anti-oxidant and inflammatory responses and pathways known to degrade collagen and promote synthesis of collagen.
They found that the Pacific whiting skin: Reactivated to a certain level the collagen synthesis pathway that had been suppressed by UV radiation. Prevented activation to a certain level of the collagen degradation pathway that had been accelerated by UV radiation. Promoted additional anti-oxidant activity. Antioxidants are substances that can prevent or slow damage to cells. Promoted additional anti-inflammatory effects.Kwon cautioned that these are initial results obtained in her lab through a human cell model system. Further research is needed using animal models.
“We saw some potential with a positive response in the cell model system,” she said. “This gives us good evidence to take those next steps.”
Co-authors of the paper are Elaine Ballinger of Oregon State and Seok Hee Han and Se-Young Choung of Kyung Hee University in South Korea.
The research was funded by Pacific Seafood, a harvester, processer, and distributor of seafood.
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Materials provided by Oregon State University. Original written by Sean Nealon. Note: Content may be edited for style and length.

The American Academy of Pediatrics has updated its safe-sleep guidelines for infants for the first time in more than five years, emphasizing that babies should sleep on their backs on flat, level surfaces to reduce their risk of Sudden Unexpected Infant Death Syndrome (SIDS).
It’s estimated that there are 3,500 sleep-related infant deaths in the United States each year. Many of those deaths are preventable, and the authors of the new guidelines are urging parents to take simple steps to help keep their children safe.
“The best way to protect your baby while they are asleep is to follow these guidelines,” said UVA Children’s Rachel Moon, MD, the lead author of the new guidelines, which come from the AAP’s Task Force on Sudden Infant Death Syndrome and the AAP’s Committee on Fetus and Newborn. “When you place your baby for sleep, they should be on their back in a crib, portable crib or bassinet that meets Consumer Product Safety Commission standards, and there should be nothing but the baby in the crib.”
Keeping Babies Safe
The United States made great progress in preventing infant deaths during the 1990s, after a public-education campaign urged parents to put their babies to sleep on their backs. But the decline in deaths has been stalled for more than 20 years. Safe-sleep experts say more can be done, and hope the new guidelines spur fresh action.
The recommendations, published online today in the scientific journal Pediatrics, include: Babies should sleep on their back on a firm, flat, non-inclined surface free of soft goods, such as blankets and toys. These items, while appealing to many parents, can pose suffocation hazards. The sleep surface should, at minimum, comply with all federal safety standards. Any inclined surfaces, including car seats, strollers, infant carriers and infant slings, should be avoided for routine sleeping, especially for infants younger than 4 months. Swaddling has not been shown to reduce the risk of SIDS. If babies are swaddled, they should always be placed on their back. Weighted swaddles or weighted objects within swaddles are unsafe. Swaddling should be stopped when a baby starts trying to roll over, usually at 3 or 4 months or earlier, as the swaddle can pose a suffocation hazard. Parents should avoid devices marketed to reduce the risk of SIDS or other sleep-related deaths. There is no evidence for such claims, and they may lull parents into a false sense of security. While there is no contraindication to using home cardiorespiratory monitors or wearable monitors, there is no evidence that using them will prevent SIDS. Families who decide to use these monitors should still follow the safe sleep guidelines. Parents should sleep in the same room as baby, but not in the same bed.Other recommendations include breastfeeding, when possible; any breast milk, experts say, is better than none. Both breastfeeding and pacifier use are associated with reduced risk of SIDS. Parents should also avoid using drugs and alcohol or exposing babies to drugs and alcohol.
In addition, parents are advised that awake “tummy time” is important to facilitate infant development. Babies should not be left to sleep on their stomachs, however.
“These recommendations are consistent with prior guidelines, with some updates based on new information. We want to reach new parents, grandparents and other infant caregivers so that everyone is aware about how best to keep their baby safe,” said UVA Health’s Fern Hauck, MD, MS, a member of the AAP’s Task Force on SIDS. “We also want parents to know that it is important to speak to your baby’s doctor about the guidelines and have an open discussion so that you can share your thoughts and make the best choices in caring for your baby.”
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Materials provided by University of Virginia Health System. Note: Content may be edited for style and length.

Bronchitis in early childhood has been found to increase the risk of lung diseases in middle age according to research from the Allergy and Lung Health Unit at the University of Melbourne.
Researchers found that Australian children who had bronchitis at least once before the age of seven were more likely to have lung problems in later life.
They also established that the lung diseases the children suffered from by the time they reached the age of 53 were usually asthma and pneumonia, rather than chronic bronchitis or chronic obstructive pulmonary disease.
Lead author of a paper published today in the journal, BMJ Open Respiratory Research, Dr Jennifer Perret, said the findings come from one of the world’s oldest surveys, the Tasmanian Longitudinal Health Study, which followed 8,583 people who were born in Tasmania in 1961 and started school in 1968.
“This is the first very long-term prospective study that has examined the relationship between childhood bronchitis severity with adult lung health outcomes. We have seen already that children with protracted bacterial bronchitis are at increased risk of serious chronic infective lung disease after two to five years, so studies like ours are documenting the potential for symptomatic children to develop lung conditions, such as asthma and lung function changes, up to mid-adult life,” she said.
Researchers established the link between childhood bronchitis and adult lung problem by surveying the original participants when they joined the study. Participants were then tracked for an average of 46 years with 42 per cent completing another questionnaire, including doctor-diagnosed lung conditions and a clinical examination, between 2012 and 2016.
By categorising participants into groups based on groups based on the number and duration of episodes of “bronchitis” and/or “loose, rattly or chesty cough,” they found that the more often a participant had been diagnosed by a doctor as having pneumonia and asthma, the more likely the participant had bronchitis as a child.
Dr Perret said the numbers in the most severe subgroup were small (just 42 participants were in this category and of these just 14 had current asthma in middle-age), but the trends across bronchitis severity categories were significant.
“Compared with the majority who never had from bronchitis, there was an incremental increase in risk for later asthma and pneumonia which strengthened the more often a person had suffered from bronchitis as a child, and especially if they had recurrent episodes which were prolonged for at least one month in duration.
“It is notable that the link with later adult active asthma was seen for participants who did not have co-existent asthma or wheezing in childhood, and a similar finding has been recently seen in a very large meta-analysis of school-aged children who had had a lower respiratory tract infection during early childhood.”
Researchers hope the study will help doctors identify children who could benefit from more careful monitoring and earlier interventions to keep them in better health into mid-adult life.
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Materials provided by University of Melbourne. Note: Content may be edited for style and length.

Paxlovid is the leading oral medication for preventing severe cases of COVID-19 in high-risk individuals. However, symptoms returned in some patients after treatment was completed, prompting the Centers for Disease Control and Prevention (CDC) to issue a health advisory on this so-called “COVID-19 rebound.”
In a study published June 20, 2022 in Clinical Infectious Diseases, researchers at University of California San Diego School of Medicine evaluated one such patient and found their symptom relapse was not caused by the development of resistance to the drug or impaired immunity against the virus. Rather, the COVID-19 rebound appears to have been the result of insufficient exposure to the drug.
After a clinical trial showed that Paxlovid could reduce the risk of hospitalization and death from COVID-19 by 89 percent, the drug was made available under an emergency use authorization from the U.S. Food and Drug Administration in December 2021.
The treatment consists of two drugs — nirmatrelvir and ritonavir — which work together to suppress SARS-CoV-2 by blocking an enzyme that allows the virus to replicate in the body. It is easier to take at home compared to drugs like Remdesivir, which require intravenous injection. Treatment should be initiated within five days of symptom onset and taken twice daily for five consecutive days.
The research team, led by senior author Davey M. Smith, MD, chief of Infectious Diseases and Global Public Health at UC San Diego School of Medicine and infectious disease specialist at UC San Diego Health, set out to better understand the causes of COVID-19 rebound following Paxlovid treatment.
They first isolated the SARS-CoV-2 BA.2 virus from a COVID-19 rebound patient and tested whether it had developed any drug resistance. They found that after Paxlovid treatment, the virus was still sensitive to the drug and showed no relevant mutations that would reduce the drug’s effectiveness.

It has long been thought that when walking is combined with a task — both suffer. Researchers at the Del Monte Institute for Neuroscience at the University of Rochester found that this is not always the case. Some young and healthy people improve performance on cognitive tasks while walking by changing the use of neural resources. However, this does not necessarily mean you should work on a big assignment while walking off that cake from the night before.
“There was no predictor of who would fall into which category before we tested them, we initially thought that everyone would respond similarly,” said Eleni Patelaki, a biomedical engineering Ph.D. student at the University of Rochester School of Medicine and Dentistry in the Frederick J. and Marion A. Schindler Cognitive Neurophysiology Laboratory and first author of the study out now in Cerebral Cortex. “It was surprising that for some of the subjects it was easier for them to do dual-tasking — do more than one task — compared to single-tasking — doing each task separately. This was interesting and unexpected because most studies in the field show that the more tasks that we have to do concurrently the lower our performance gets.”
Improving means changes in the brain
Using the Mobile Brain/Body Imaging system, or MoBI, researchers monitored the brain activity, kinematics and behavior of 26 healthy 18 to 30-year-olds as they looked at a series of images, either while sitting on a chair or walking on a treadmill. Participants were instructed to click a button each time the image changed. If the same image appeared back-to-back participants were asked to not click.
Performance achieved by each participant in this task while sitting was considered their personal behavioral “baseline.” When walking was added to performing the same task, investigators found that different behaviors appeared, with some people performing worse than their sitting baseline — as expected based on previous studies — but also with some others improving compared to their sitting baseline. The electroencephalogram, or EEG, data showed that the 14 participants who improved at the task while walking had a change in frontal brain function which was absent in the 12 participants who did not improve. This brain activity change exhibited by those who improved at the task suggests increased flexibility or efficiency in the brain.
“To the naked eye, there were no differences in our participants. It wasn’t until we started analyzing their behavior and brain activity that we found the surprising difference in the group’s neural signature and what makes them handle complex dual-tasking processes differently,” Patelaki said. “These findings have the potential to be expanded and translated to populations where we know that flexibility of neural resources gets compromised.”
Edward Freedman, Ph.D., associate professor of Neuroscience at the Del Monte Institute led this research that continues to expand how the MoBI is helping neuroscientists discover the mechanisms at work when the brain takes on multiple tasks. His previous work has highlighted the flexibility of a healthy brain, showing the more difficult the task the greater the neurophysiological difference between walking and sitting. “These new findings highlight that the MoBI can show us how the brain responds to walking and how the brain responds to the task,” Freedman said. “This gives us a place to start looking in the brains of older adults, especially healthy ones.”
Impact on aging
Expanding this research to older adults could guide scientists to identify a possible marker for ‘super agers’ or people who have a minimal decline in cognitive functions. This marker would be useful in helping better understand what could be going awry in neurodegenerative diseases.
Additional authors include John Foxe, Ph.D., and Kevin Mazurek, Ph.D., of the University of Rochester Medical Center. This research was supported by the Del Monte Institute for Neuroscience Pilot Program, the University of Rochester CTSA award number KL2 TR001999 from the National Center for Advancing Translational Sciences of the National Institutes of Health, and the National Institutes of Health. Recordings were conducted at the University of Rochester Intellectual and Developmental Disabilities Research Center (UR-IDDRC).
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Materials provided by University of Rochester Medical Center. Original written by Kelsie Smith Hayduk. Note: Content may be edited for style and length.

It’s a given that certain bacteria and viruses can cause illness and disease, but the real culprits are the sequences of concern that lie within the genomes of these microbes.
Calling them out is about to get easier.
Years of work by Rice University computer scientists and their colleagues have led to an improved platform for DNA screening and pathogenic sequence characterization, whether naturally occurring or synthetic, before they have the chance to impact public health.
Computer scientist Todd Treangen of Rice’s George R. Brown School of Engineering and genomic specialist Krista Ternus of Signature Science LLC led the study that produced SeqScreen, a program to accurately characterize short DNA sequences, often called oligonucleotides.
Treangen said SeqScreen is intended to improve the detection and tracking of a wide range of pathogenic sequences.
“SeqScreen is the first open-source software toolkit that is available for synthetic DNA screening,” Treangen said. “Our program improves upon the previous state of the art for companies, individuals and government agencies for their DNA screening practices.”
The study, which began as high-risk, high-payoff research funded by the National Intelligence Agency’s IARPAprogram in 2017, appears in the journal Genome Biology.

The fraud trial of Ramesh Balwani, the chief operating officer of the failed blood testing start-up Theranos, is heading to a verdict soon.For months, Ramesh Balwani’s lawyers have tried to distinguish him from Elizabeth Holmes, his former girlfriend and business partner at the failed blood-testing company Theranos.Ms. Holmes was found guilty of defrauding the start-up’s investors in January. Mr. Balwani is seeking a different outcome in his own fraud trial.But on Tuesday, in closing statements for Mr. Balwani’s trial, prosecutors tied him directly to Ms. Holmes and the yearslong fraud at Theranos. Jeffrey Schenk, an assistant U.S. attorney and a lead prosecutor on the case, displayed a text message that Mr. Balwani sent Ms. Holmes in 2015 that was used as evidence in the trial.“I am responsible for everything at Theranos,” Mr. Balwani wrote. “All have been my decisions too.”The text message was an admission of guilt, Mr. Schenk said, adding, “He’s acknowledging his role in the fraud.”The presentation capped more than three months of testimony in Mr. Balwani’s trial, which largely mirrored that of Ms. Holmes’s last fall. Ms. Holmes and Mr. Balwani, 57, were charged in 2018 for exaggerating the capabilities of Theranos’s blood-testing machines and business performance when, in fact, the products did not work and its business was struggling. The duo pleaded not guilty. Ms. Holmes was convicted on four of 11 charges.The trial for Mr. Balwani, who is known as Sunny, lacked the fanfare of Ms. Holmes’s high-profile case. It nonetheless serves as a coda to a waning era of start-up growth that often relied on hype and hyperbole. Ms. Holmes and Mr. Balwani are among the very few tech executives who have ever been prosecuted for fraud.Just as Ms. Holmes tried blaming others for the deceptions at Theranos, Mr. Balwani has pointed the finger back at her. Throughout the trial, his lawyers argued that many of Theranos’s blood tests had worked. And they said that Ms. Holmes controlled Theranos, not Mr. Balwani. They were set to begin their closing argument later on Tuesday. Ms. Holmes, now 38, met Mr. Balwani when she was 18. They began dating years later, after Ms. Holmes had founded Theranos. In 2009, Mr. Balwani invested in Theranos and became its chief operating officer, eventually taking charge of its lab. The pair kept their relationship a secret and lived together in a sprawling home they co-owned in Atherton, Calif.In 2016, after Theranos came under fire for lying about its blood testing capabilities, Mr. Balwani left the company and split with Ms. Holmes. The pair were charged with fraud together, but Ms. Holmes argued in filings to sever the cases and accused Mr. Balwani of emotional and sexual abuse. Her trial included dramatic testimony recounting the accusations. That subject was excluded from Mr. Balwani’s trial.Elizabeth Holmes, the founder of Theranos, with her partner, Billy Evans, leaving the courthouse last September.Mike Kai Chen for The New York TimesTo convict Mr. Balwani, prosecutors must convince jurors that he intentionally lied to investors and patients about Theranos’s blood tests and business dealings.Prosecutors tried blaming Mr. Balwani for financial projections that Theranos showed to investors and the condition of its labs. New witnesses included investors and executives who dealt directly with Mr. Balwani, rather than Ms. Holmes.One projection, presented to investors in October 2014, showed Theranos would bring in $140 million that year. In reality, revenue was limited. The next year, Mr. Balwani projected nearly $1 billion in revenue in pitches to investors. Theranos’s internal projections were much lower, evidence showed, and the reality was closer to zero.A new witness, Patrick Mendenhall, who dealt directly with Mr. Balwani while making an investment in Theranos, outlined the promises made that turned out to be misleading or false.Brian Grossman, an investor at the hedge fund PFM Health Sciences, who was also a witness in Ms. Holmes’s trial, testified that Mr. Balwani provided his team with financial projections that far overstated Theranos’s projected revenue.“When Mr. Balwani communicates with an investor, it’s for a purpose, and the purpose is to deceive them to get money,” Mr. Schenk said.Prosecutors also emphasized Mr. Balwani’s role in running Theranos’s lab, which the executive had called a “disaster zone” in a 2014 text message used as evidence. Mr. Balwani would also “remove dissent” by intimidating or pushing out employees who expressed concern about Theranos tests, like Dr. Adam Rosendorff, a former lab director who testified in both trials, Mr. Schenk saidNotably absent from the witness stand were James Mattis, a former defense secretary and Theranos board member, and Ms. Holmes, who had both testified in Ms. Holmes’s trial. Mr. Balwani did not testify in his own defense.If convicted, Mr. Balwani and Ms. Holmes will be sentenced together in September.