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Study Identifies Cause for Mysterious Cases of Epilepsy in Children

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International collaboration uncovers mosaicism, a condition in which cells within the same person have a different genetic makeup, as a cause for pediatric seizures

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Credit: Pixabay
By studying resectioned brain tissue for mutations, researchers have identified genetic factors that may cause malformations of cortical development, a form of pediatric epilepsy.
« Study Identifies Cause for Mysterious Cases of Epilepsy in Children

Newswise — Epilepsy is present in 4% of the population, and is among the most common brain disorders in children. Modern medicine can prevent most seizure recurrences, but approximately 20% of patients do not respond to treatment.

In these cases, the reason may originate in patches of damaged or abnormal brain tissue known as “malformations of cortical development” (MCD), which results in a diverse group of neurodevelopment disorders. Surgical resection or removal of the patch can cure the seizures, and epilepsy surgery to improve neurological outcomes is now a key part of the modern medical armamentarium, but what causes the patches has largely remained a mystery.

Writing in the January 12, 2023 issue of Nature Genetics, researchers at University of California San Diego School of Medicine and Rady Children’s Institute for Genomic Medicine, collaborating with an international consortium of more than 20 children’s hospitals worldwide, report a significant breakthrough in understanding the genetic causes of MCD.

Members of the Focal Cortical Dysplasia Neurogenetics Consortium investigated 283 brain resections from children across a range of MCD types, with parental consent, looking for potential genetic causes. Because most brain tissue in these children is normal, the scientists focused on mutations present in a small subset of brain cells, a phenomenon termed genetic somatic mosaicism.

“This was a decade-long journey, bringing specialists together from around the world, to recruit patients for this study,” said senior study author Joseph Gleeson, MD, Rady Professor of Neuroscience at UC San Diego School of Medicine and director of neuroscience research at the Rady Children’s Institute for Genomic Medicine. “Until recently, most hospitals did not study resected brain tissue for genetic causes. The consortium organized a biobank to store tissue for high-throughput mosaicism analysis.”

Previous research by Gleeson and colleagues had shown that genetic somatic mosaicism in the mTOR signaling pathway was a contributing factor, said co-first author Changuk Chung, PhD, a postdoctoral fellow in the Gleeson lab.

“But most patients remain undiagnosed, which hinders treatment. We tested for hidden mutations, detectable only by greatly expanding the cohort size and improving methods so that the results could be meaningful. We collaborated to solve technical and logistical bottlenecks. The pieces fell into place, but it took 10 years.”

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The team conducted intensive genomic discovery using state-of-art somatic mosaic algorithms developed by the National Institutes of Health-sponsored Brain Somatic Mosaicism Network, of which UC San Diego is a member.

“We tried our best to detect mutations in as little as 1 percent of cells,” said co-first author Xiaoxu Yang, PhD, a postdoctoral scholar in Gleeson’s lab. “Initially we failed. To solve these problems, we needed to develop novel artificial intelligence methods to overcome barriers in sensitivity and specificity.”

The team ultimately identified 69 different genes carrying somatic brain mutations, the majority of which have never previously reported in MCD.

“We can draw parallels with the cancer field because these mutations disrupt cellular function and need to be resected,” said co-first author Chung. “However, unlike cancer cells, brain cells mostly do not divide so these cells misbehave by stimulating epileptic seizures. The question that arose was whether the newly found gene mutations were sufficient to cause MCD disease.”

Gleeson said the scientists found that the genes converged on calcium signaling, gene expression and synaptic functions, and noted that when the mutations were introduced into a mouse model, abnormalities similar to those seen in patients were observed. The study authors suggest the findings could be used to improve diagnosis and develop cures for MCD disease.

“The MCD genes in patient brains have demonstrated critical roles during cortical development,” said Gleeson. “These findings could lead to new molecular classifications for MCD, and ultimately to personalized therapies for epilepsy.”

For a complete list of co-authors, see full study.

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Funding for this research came, in part, from the National Institutes of Health (grants NIMH U01MH108898 and R01MH124890, NIA R21AG070462, NINDS R01NS083823), the San Diego Supercomputer Center and UC San Diego Institute of Genomic Medicine.

Source: University of California San Diego

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Child Health

How to Supplement Breastfeeding with Bottle Feeding

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(Family Features) For moms who breastfeed, the idea of introducing a bottle can feel like a big change. Whether supplementing for personal reasons, returning to work or ensuring adequate nourishment, the transition between breast and bottle can be eased with the right approach – and the right tools. Here’s how to make this process smooth and stress-free for both you and your baby.

Begin Gradually and Mindfully
When supplementing with a bottle, it’s important to start slowly, ideally once breastfeeding is well-established, usually after the first few weeks. Begin by replacing one breastfeeding session with a bottle feeding and gradually increase as needed. This gradual transition helps your baby adapt to the new experience without feeling overwhelmed or confused. If you have questions or concerns about introducing bottle feeding, your pediatrician is an excellent resource.  

Prioritize the Right Bottle Design
Using a bottle that closely mirrors the breastfeeding experience can make all the difference in a smooth transition. For example, NUK’s Perfect Match Bottle, from the No. 1 hospital-trusted brand (based on industry data) for feeding, is specifically designed to bridge the gap between breast and bottle feeding. Its ultra-soft silicone nipple is shaped to mimic the feel of a mother’s breast, adapting to your baby’s unique palate for a familiar, comforting feeding experience. This breast-like comfort can make the transition seamless and intuitive for babies. Additionally, it features an advanced anti-colic venting system that minimizes air intake, reducing digestive discomfort and keeping your baby comfortable for a calm, enjoyable feeding time – without the hassle of extra parts to clean.

Maintain Familiar Feeding Conditions
Convincing a breastfed baby to take a bottle can take a bit of patience. Ease the transition by creating an environment similar to breastfeeding conditions to provide a comforting and familiar experience for your baby. Hold your baby close, make eye contact and create a quiet environment to establish a sense of security. Also, plan for bottle feedings when you know your baby is ready to eat, but not overly hungry or fussy.

Use a Safe and Convenient Feeding System
One common concern when supplementing is ensuring milk is served at a safe temperature. With a built-in SafeTemp indicator that changes color if the milk is too hot, the NUK Perfect Match bottle gives parents peace of mind. This feature can simplify the feeding process, making it more intuitive for busy caregivers.

Enlist Help with Bottle Feeding
Sometimes, a baby may be more likely to accept a bottle when offered by someone other than the breastfeeding parent. A partner or caregiver can introduce bottle feeding, helping your baby adapt without associating it directly with breastfeeding. Once established, you can alternate who offers the bottle.

Stay Flexible and Patient
Every baby’s journey is unique, and patience is key. If challenges arise during supplementation, such as bottle refusal or digestive changes, seek guidance from your pediatrician or a lactation consultant. They can help tailor the approach to your baby’s needs.

Discover the future of feeding and learn more at nuk-usa.com.

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Our Lifestyle section on STM Daily News is a hub of inspiration and practical information, offering a range of articles that touch on various aspects of daily life. From tips on family finances to guides for maintaining health and wellness, we strive to empower our readers with knowledge and resources to enhance their lifestyles. Whether you’re seeking outdoor activity ideas, fashion trends, or travel recommendations, our lifestyle section has got you covered. Visit us today at https://stmdailynews.com/category/lifestyle/ and embark on a journey of discovery and self-improvement.


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Sex on TV: Less impact on teens than you might think

Research shows that, despite fears, exposure to sexual media does not meaningfully correlate with teens and sexual behavior. Instead, parental guidance remains crucial in shaping teens’ understanding of sexuality.

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Don’t blame the media. TV image via www.shutterstock.com.

Christopher J. Ferguson, Stetson University

Few people would doubt that sex is ubiquitous in media – whether movies, television, music or books – and that teens today have unprecedented access to all of it. It’s often taken for granted that this easy access to “sexy media” has an influence on teenage sexuality.

Specifically, the worry is that teens may have sex earlier or engage in higher-risk sexual activities such as having multiple partners or exposing themselves to potential pregnancies or STDs. In 2010 the American Academy of Pediatrics even published a position paper claiming that sexually explicit media could promote risky teen sexual behavior.

But government data find that teens are actually waiting longer than in the past to have sex. And teen pregnancy rates are at historic lows. How is it possible that sexy media has such a pernicious effect even as teen sexuality is becoming healthier?

I’ve spent more than a decade researching how media – like video games or advertising – influences youth behavior. What fascinates me is how society interacts with media, often embracing salacious content while simultaneously blaming it for societal problems, whether real or imagined.

So my colleagues and I decided to look at the research on sexy media and teenage sexual behavior to see how the strong the link between the two is.

Sexy media doesn’t predict sexual behavior

Despite the common assumptions about sex in the media and its alleged effects on teens, the evidence behind the link is weak. Some studies find evidence for a small effect (perhaps in some circumstances but not others), while others find no evidence for any effect.

One reason the evidence may not be conclusive is that there are practical and ethical limitations to conducting research. We can’t run experiments where teens watch different TV shows and we wait around to see who has sex. This means research often relies on self-reported data. What we do is ask teens to report on their sexual behavior and their media preferences, as well as other variables we might like to control for (such as personality or family environment) and see if correlations exist.

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With this in mind, my colleagues Patrick Markey at Villanova and Danish researcher Rune Nielsen and I conducted a meta-analysis of 22 studies with over 22,000 participants that examine the correlation between sexy media and teenage sexual behavior. A meta-analysis lets us look for commonalities in the results, and is something that had not been done previously with this pool of research.

All of the studies in the meta-analysis looked at depictions of sexual situations, nudity, partial nudity or explicit discussions of sex in television shows or movies easily accessible to minors (and thus excluded pornography).

In particular, we were curious to see whether sexy media predicted teen sexual behavior once other variables had been controlled. For instance, maybe boys tend to watch sexier media and also are more sexually risk-taking. Or perhaps youth who are more liberal in terms of personality are more open both to sexy media and earlier sexual initiation. Perhaps a difficult family background is the underlying key to understanding any correlation between media use habits and actual sexual behavior.

Ultimately, this is what we found. Once other factors such as family environment, personality or even gender were controlled, sexy media exposure did not meaningfully correlate with teen sexual behavior.

Contrary to common fears, sexy media doesn’t seem to have any practical significance for when teens first have sex or start other sexual behaviors. This lack of correlation is a warning sign we might be on the wrong track in trying to blame media for teen sexual risk-taking.

image 20160705 820
The kids are all right. Group of teens via www.shutterstock.com.

Why doesn’t media influence teens?

There are numerous theories that discuss how individuals and media interact. However, many older media effects theories didn’t consider why people were drawn to media, how they processed it, or what they hoped to get from it. Such theories assumed viewers simply irrationally and purposelessly imitated what they saw. Most of the papers we examined in our meta-analysis were tests of these basic, automatic, media effects theories.

In the past few years, some scholars (myself included) have specifically called for the retirement of these older media effects theories. This is because the evidence increasingly suggests that fictional media such as feature movies or sitcoms media is too remote to have a clear impact on consumers’ behavior, especially compared to families and peers.

In addition, emerging evidence suggests that young children process fictional media differently from real events. If small children are able to process a difference between fictional events and real events, we can assume that teens don’t really expect media to reflect reality.

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Our results regarding the limited impact of media also fit with the observations from societal data. Despite a plethora of sexual media available to teens, a crisis of risky teen sexual behavior has not emerged.

We watch what we’re interested in watching

Newer models of media use suggest that it is the individuals who consume media, not the media itself, who are the driving agents of behavior. Evidence suggests that users seek out and interpret media according to what they want to get from it, rather than passively imitating it.

People don’t generally accidentally watch media, sexual or otherwise, but are motivated to do so because of preexisting desires.

For instance, some recent studies have indicated that youth seek out media that fit with preexisting motives, called a selection effect, but that media don’t necessarily lead to further problem behaviors. For example, research suggests that some teens who are already aggressive might be interested in violent video games, but playing such games doesn’t make kids more aggressive.

That’s a point that sometimes seems ignored when we talk about teens and sex. Interest in sex is a largely biologically motivated process; fictional media really isn’t required. Teens will become interested in sex all on their own.

Parents have more influence than the media

Parents can rest a bit easier since the evidence suggests that media isn’t a primary driver of teen sexuality.

To the extent media has any impact at all, it is likely only in a vacuum left by adults reluctant to talk to kids about sex, especially the stuff kids really want to know.

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How do you ask someone out on a date and how do you handle it if they say no? What does sex feel like? When is it OK to have sex? What are the risks and how do you avoid them? In the face of patient, empathic and informative discussions about sex by adults kids trust, the media likely has little influence.

Ultimately, whether media have salacious or more conscientious portrayals of sexuality, we should not expect media to replace conversations with youth by parents, guardians and educators.

I’m not suggesting everyone run out and buy “50 Shades of Grey” for their teen, but if teens happen to come across it (and they will), it’s not the end of the world.

The important thing for parents is to talk to their kids.

Christopher J. Ferguson, Associate Professor of Psychology, Stetson University

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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Our Lifestyle section on STM Daily News is a hub of inspiration and practical information, offering a range of articles that touch on various aspects of daily life. From tips on family finances to guides for maintaining health and wellness, we strive to empower our readers with knowledge and resources to enhance their lifestyles. Whether you’re seeking outdoor activity ideas, fashion trends, or travel recommendations, our lifestyle section has got you covered. Visit us today at https://stmdailynews.com/category/lifestyle/ and embark on a journey of discovery and self-improvement.


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Healthy Holiday Tips for Pregnant People

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(Family Features) The holidays often bring colder weather and more indoor gatherings. Respiratory viruses like flu, COVID-19 and RSV are common this time of year.

Illness from these viruses can be dangerous for pregnant people and newborns. Staying up to date on vaccines for flu, COVID-19 and RSV during pregnancy can offer protection, and now is the time to get vaccinated if you haven’t already.

“During the holidays, pregnant people can help protect their health and the health of their baby by getting updated vaccines,” said Dr. Rachel Levine, assistant secretary for health at the U.S. Department of Health and Human Services (HHS). “During the holidays, you’re more likely to be exposed to flu, COVID-19 and RSV. Vaccination not only helps build up your immune system but can give protection for your little one.”

Here are some tips from the HHS Risk Less. Do More. public education campaign for a safe and festive holiday season:

Get vaccinated against flu and COVID-19. Getting sick with flu or COVID-19 can be dangerous for people who are pregnant and young infants. During pregnancy, there is a greater risk of flu or COVID-19 infections becoming severe and leading to hospitalization. Babies are also at risk of severe flu and COVID-19, but they cannot get vaccines until they are 6 months old. By getting vaccinated during pregnancy, you pass on antibodies that help protect your baby during the first few months of life.

Get vaccinated against RSV if you’re eligible. RSV is a common cause of severe respiratory illness in infants. In fact, it is the top reason babies in the United States are hospitalized each year. You can get an RSV vaccine if you are 32-36 weeks pregnant between September and January, the months when RSV spreads the most. The RSV vaccine helps your baby build protection from severe RSV before birth. If you do not get an RSV vaccine during pregnancy, your newborn can still get protection through a preventive antibody immunization soon after birth.

Stay home or change plans when ill. If you are not feeling well, stay home to avoid spreading illness. Also, if someone you plan to see is sick or respiratory viruses are surging in your community, consider staying home. You can also wear a mask or, if weather permits, move the gathering outdoors.

If you have questions or concerns, talk to your doctor. Knowing the facts about vaccines and pregnancy can offer confidence and comfort. Visit cdc.gov/RiskLessDoMore to learn more about getting your flu, COVID-19 and RSV vaccines before the holidays. Or visit vaccines.gov to get started.

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Photo courtesy of Shutterstock

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United States Department of Health and Human Services

Our Lifestyle section on STM Daily News is a hub of inspiration and practical information, offering a range of articles that touch on various aspects of daily life. From tips on family finances to guides for maintaining health and wellness, we strive to empower our readers with knowledge and resources to enhance their lifestyles. Whether you’re seeking outdoor activity ideas, fashion trends, or travel recommendations, our lifestyle section has got you covered. Visit us today at https://stmdailynews.com/category/lifestyle/ and embark on a journey of discovery and self-improvement.


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