Rats walk again after spinal cord repair

University of Minnesota researchers developed a 3D-printed scaffold that directs stem cells to grow into functioning nerve cells, successfully restoring movement in rats with severed spinal cords. This promising technique could transform future treatment for spinal cord injuries.

The method involves creating a unique 3D-printed framework for lab-grown organs, called an organoid scaffold, with microscopic channels. Credit: McAlpine Research Group, University of Minnesota

For the first time, a research team at the University of Minnesota Twin Cities demonstrated a groundbreaking process that combines 3D printing, stem cell biology, and lab-grown tissues for spinal cord injury recovery.

The study was recently published in Advanced Healthcare Materials, a peer-reviewed scientific journal.

The method involves creating a unique 3D-printed framework for lab-grown organs, called an organoid scaffold, with microscopic channels. Credit: McAlpine Research Group, University of Minnesota

According to the National Spinal Cord Injury Statistical Center, more than 300,000 people in the United States suffer from spinal cord injuries, yet there is no way to completely reverse the damage and paralysis from the injury. A major challenge is the death of nerve cells and the inability for nerve fibers to regrow across the injury site. This new research tackles this problem head-on.

The method involves creating a unique 3D-printed framework for lab-grown organs, called an organoid scaffold, with microscopic channels. These channels are then populated with regionally specific spinal neural progenitor cells (sNPCs), which are cells derived from human adult stem cells that have the capacity to divide and differentiate into specific types of mature cells.

"We use the 3D printed channels of the scaffold to direct the growth of the stem cells, which ensures the new nerve fibers grow in the desired way," said Guebum Han, a former University of Minnesota mechanical engineering postdoctoral researcher and first author on the paper who currently works at Intel Corporation. "This method creates a relay system that when placed in the spinal cord bypasses the damaged area."

In their study, the researchers transplanted these scaffolds into rats with spinal cords that were completely severed. The cells successfully differentiated into neurons and extended their nerve fibers in both directions -- rostral (toward the head) and caudal (toward the tail) -- to form new connections with the host's existing nerve circuits.

The new nerve cells integrated seamlessly into the host spinal cord tissue over time, leading to significant functional recovery in the rats.

"Regenerative medicine has brought about a new era in spinal cord injury research," said Ann Parr, professor of neurosurgery at the University of Minnesota. "Our laboratory is excited to explore the future potential of our 'mini spinal cords' for clinical translation."

While the research is in its beginning stages, it offers a new avenue of hope for those with spinal cord injuries. The team hopes to scale up production and continue developing this combination of technologies for future clinical applications.

In addition to Han and Parr, the team included Hyunjun Kim and Michael McAlpine from the University of Minnesota Department of Mechanical Engineering; Nicolas S. Lavoie, Nandadevi Patil and Olivia G. Korenfeld from the University of Minnesota Department of Neurosurgery; Manuel Esguerra from the University of Minnesota Department of Neuroscience; and Daeha Joung from the Department of Physics at Virginia Commonwealth University.

This work was funded by the National Institutes of Health, the State of Minnesota Spinal Cord Injury and Traumatic Brain Injury Research Grant Program and the Spinal Cord Society.

https://www.sciencedaily.com/releases/2025/08/250826005226.htm#google_vignette

Han G, Lavoie NS, Patil N, Korenfeld OG, Kim H, Esguerra M, Joung D, McAlpine MC, Parr AM. 3D-Printed Scaffolds Promote Enhanced Spinal Organoid Formation for Use in Spinal Cord Injury. Adv Healthc Mater. 2025 Jul 23:e04817. doi: 10.1002/adhm.202404817. Epub ahead of print. PMID: 40702833.

Abstract

The transplantation of regionally specific spinal neural progenitor cells (sNPCs) has shown promise for functional restoration after spinal cord injury (SCI) by forming connections with host neural circuits. Here, 3D-printed organoid scaffolds for transplantation using clinically relevant human induced pluripotent stem cell-derived regionally specific sNPCs is developed. Scaffolds with microscale channels are printed, and sNPCs are subsequently printed within these channels. The scaffolds direct axonal projections along the channels and guide the cells to simulate in vivo-like conditions, leading to more effective cell maturation and the development of neuronal networks crucial for restoring function after SCI. The scaffolds, with organoids assembled along their lengths, are transplanted into the transected spinal cords of rats. This significantly promotes the functional recovery of the rats. At 12 weeks post-transplantation, the majority of the cells in the scaffolds differentiate into neurons and integrate into the host spinal cord tissue. These results demonstrate their potential to create a relay system along the spinal cord and form synapses in both the rostral and caudal directions relative to the scaffold. It is envisioned that combining sNPCs, organoid assembly, and 3D printing strategies can ultimately lead to a transformative treatment approach for SCI.

See: https://childnervoussystem.blogspot.com/2025/08/spinal-cord-implant.html

CT contrast leading to fatal allergic reaction

Yesterday I had a contrast-enhanced CT

 A 22-year-old law graduate recently died after suffering a rare but catastrophic allergic reaction during a routine CT scan, shining a spotlight on the risks of a procedure millions undergo every year.

Letícia Paul, who had recently earned her law degree and was pursuing postgraduate studies in real estate and business law, went into anaphylactic shock moments after receiving an iodinated contrast dye, Jam Press reported. 

The incident occurred at Hospital Regional Alto Vale in Rio do Sul, in Santa Catarina, Brazil.

Doctors intubated the young woman and placed her under intensive care, but she died on Aug. 20, less than 24 hours later.

Paul had originally visited the hospital for a scan linked to her history of kidney stones.

In a statement, the hospital said it "regrets the loss and extends its condolences to the family," adding that all procedures followed recommended clinical protocols, per Jam Press.

According to one study published in JAMA Internal Medicine, approximately 93 million computed tomography (CT) examinations are performed on 62 million patients annually in the U.S.

Contrast-enhanced CT scans are often performed with iodinated dye, helping doctors capture sharper images of organs and tissues. 

The procedure is generally considered safe, but in rare cases, the contrast can trigger allergic reaction.

"Although rare, medical problems or allergic reactions can happen with contrast material," Mayo Clinic warns. 

"Most reactions are mild and result in a rash or itchiness. More rarely, an allergic reaction can be serious, even life-threatening."

Studies show that severe reactions occur in roughly one in 5,000 to one in 10,000 scans.

While hospitals are typically equipped to handle such emergencies, in some cases, even immediate intervention may not be enough.

Paul’s funeral was held on Aug. 21 in Rio do Sul, followed by cremation in Balneário Camboriú, as reported by NeedToKnow.

While most people experience only mild symptoms, experts advise patients to alert a healthcare professional if they notice a reaction to contrast material.

Khloe Quill 

https://www.foxnews.com/health/young-lawyer-dies-after-routine-medical-scan-triggers-fatal-allergic-reaction

Gene editing therapy fixes major late-onset Tay-Sachs mutation in mice

A team of scientists at the National Institutes of Health (NIH) used gene editing to fix the mutation that causes a form of the rare Tay-Sachs disease in mice, sparking hope that the approach could also work for human patients and other related disorders.

Late-onset Tay-Sachs disease (LOTS) is often caused by a single change, an adenine where a guanine should be, in the DNA of a gene that makes an enzyme critical for a cell’s ability to break down a common nervous system lipid. Using a DNA base editor packaged inside a viral vector, researchers were able to partially flip the errant adenine back to a guanine, restoring the missing enzyme’s activity and reducing toxic buildup of lipid.

A paper describing the results was published June 17, and the NIH shared news of the work in an Aug. 15 release.

Because the AAV vector used in the study is specific to mice, the team is now working to develop vectors or nanoparticles that can be used to get the therapy into the brains of human patients, Richard Proia, Ph.D., an investigator at the NIH’s National Institute of Diabetes and Digestive and Kidney Diseases and leader of the study, told Fierce Biotech.

Proia has studied Tay-Sachs and related diseases for years, identifying the mutations that cause LOTS and developing an effective mouse model of the disease. He collaborates closely with Cynthia Tifft, M.D., Ph.D., a senior clinician at the NIH’s National Human Genome Research Institute (NHGRI) who treats about 25 patients with LOTS at the NIH Clinical Center, according to the release.

Tay-Sachs is caused by mutations in the gene that makes part of the enzyme hexosaminidase A. This enzyme breaks down large lipids called gangliosides; without it, ganglioside levels build up in cells to toxic levels. The more common, though still rare, form of the disease occurs in infants and is always fatal. Children with the disease usually only live a few years.

The infant form of Tay-Sachs is “the one that's screened for in groups that may be at risk for carrying the mutations,” such as Amish and Ashkenazi Jewish people, Proia said. “But it's now appreciated that there's a spectrum of the disease” that includes milder forms that emerge in adolescence or adulthood.

Patients with LOTS may have a normal life span but commonly experience symptoms like muscle weakness, loss of coordination, difficulty swallowing and mental health issues.

While using a similar base editing approach to treat the more severe infant form of the disease would be tricky, Proia said, different therapeutic approaches have recently made progress in combating the illness and related conditions.

Last week, a team led by the Horae Gene Therapy Center at the UMass Chan Medical School, also collaborating with Tifft, reported using a gene therapy to deliver functional copies of the hexosaminidase A genes to children with Tay-Sachs. The therapy was able to temporarily restore the enzyme’s activity in the phase 1/2 trial but lost effectiveness after 24 weeks.

And, earlier this month, a different team of researchers used a cell therapy approach called microglia replacement to treat mice with Sandhoff disease, a lysosomal storage disease similar to Tay-Sachs.

“For a rare disease, it's amazing to me that recently there’s such high-profile work,” Proia said. “That's nice to see.”

The new study by Proia and Tifft represents “the best of the intramural program at NIH,” Eric Green, M.D., Ph.D., former director of the NHGRI, told Fierce Biotech. “It’s like a mixing bowl” of “highly motivated, really talented physician-scientists.”

The NIH Clinical Center, in particular, Green said, is a gem that not enough people appreciate. Free to patients, the center focuses solely on clinical research and, as such, has built a strong capacity to treat rare diseases, which is why it doesn’t surprise Green that the center treats 25 of the 500 patients worldwide who have LOTS—a full 5% of all patients.

“They pay for everything, including patient travel,” Green said. “Because for a rare disease, you may not be able to gather enough patients just here in the United States, you need to use the world population. It's not just a national treasure; it's an international treasure.”

Darren Incorvaia

https://www.fiercebiotech.com/research/nih-gene-editing-therapy-fixes-mutation-mice-causes-adult-form-tay-sachs-disease

Allende ML, Kono M, Lee YT, Olmsted SM, Huso V, Bakir JY, Pratto F, Li C, Byrnes C, Tuymetova G, Zhu H, Tifft CJ, Proia RL. CNS-targeted base editing of the major late-onset Tay-Sachs mutation alleviates disease in mice. J Clin Invest. 2025 Jun 17;135(16):e183434. doi: 10.1172/JCI183434. PMID: 40526437; PMCID: PMC12352896.

Abstract

Late-onset Tay-Sachs (LOTS) disease is a lysosomal storage disorder most commonly caused by a point mutation (c.805G>A) in the HEXA gene encoding the α subunit of the lysosomal enzyme β-hexosaminidase A. LOTS manifests as a range of gradually worsening neurological symptoms beginning in young adulthood. Here, we explored the efficacy of an adenine base editor (ABE) programmed with an sgRNA to correct the HEXA c.805G>A mutation. Base editing in fibroblasts from a patient with LOTS successfully converted the pathogenic HEXA c.805A to G and partially restored β-hexosaminidase activity, with minimal genome-wide off-target editing. We generated a LOTS mouse model in which the mice exhibited decreased β-hexosaminidase activity, accumulation of GM2 ganglioside in the brain, progressive neurological manifestations, and reduced lifespan. Treatment of LOTS mice with the neurotropic virus AAV-PHP.eB carrying the ABE and an sgRNA targeting the LOTS point mutation partially corrected the c.805G>A mutation in the CNS, significantly increased brain β-hexosaminidase activity, and substantially reduced GM2 ganglioside accumulation in the brain. Moreover, the therapy delayed symptom onset and significantly extended median lifespan. These findings highlight the potential of base editing as an effective treatment for LOTS and its broader applicability to other lysosomal storage disorders.

SLC1A2 mutation and amyotrophic lateral sclerosis

Mikey Stone sat on his bed, clutching a stuffed hedgehog, his voice trembling. “If anyone out there is going through something like this, please let me know,” he whispered into his phone.

He posted the clip on TikTok, expecting maybe a handful of replies. But by morning, the video had exploded — millions of views, thousands of comments and messages from strangers across the globe. For the first time in a long while, he didn’t feel alone.

The response was a stark contrast to the years before, when life had been vivid and full of possibility. Stone remembers those days as a kaleidoscope of experiences, a time when everything felt full of color. At 18, he left his hometown of Crane, Texas, for Austin to study audio engineering at The Recording Conservatory of Austin, fully immersing himself in the city’s electric music scene. He produced tracks, played show after show and even walked the runway for friends in fashion.

For four years, life moved in a blur — late nights in the studio, crowded industry events and lazy afternoons with friends.

“I saw no limits,” Stone, now 26, tells PEOPLE exclusively. “I thought I was just going to keep going like that forever. The world was so exciting.”

Yet, as exhilarating as those years were, the endless pace eventually caught up with him. By summer 2022, life of constant motion began to feel unsustainable. He found himself in Colorado Springs, Co. — serving tables by day while keeping his music alive by night. Initially, the double shifts felt like a natural challenge. But soon, a faint tightness crept into his left foot.

At first, it was easy to dismiss; he was tired. But the tightness didn’t fade, and everyday movements became harder. Bending his foot was a struggle, and he began tripping over rugs at work. Even his doctor chalked it up to overwork. Yet when he visited friends in Los Angeles, Cailf., that September, the subtle changes became impossible to ignore: they noticed his gait was off, and he looked thinner, almost fragile. Stone laughed it off as a “glow-up” back in Colorado, but deep down, he knew something was changing.

“I started walking like a pirate on a peg leg,” he says. Embarrassed, he quit his job, and for the first time, a chilling thought crept in: Something is wrong.

Things escalated weeks later at a friend’s birthday in Austin when he suddenly felt feverish and foggy, as if “stuck in a dream.” Stabbing stomach pain landed him in the emergency room, where doctors blamed COVID-19. But the pain only intensified, and it became increasingly clear that rest and reassurance wouldn’t be enough.

He called his mom, who drove three hours from their hometown to get him. The fear in his chest grew — something inside him was seriously wrong, and yet the answers seemed always just out of reach.

"The next morning, I couldn’t take it anymore," he recalls. "At urgent care, I blurted out, ‘I think I have a blocked intestine.’ I don’t know why I said it, it just came out.”

Initially, the hospital doctor considered sending him home. But Stone insisted on further testing. Finally, they agreed to a CAT scan “just in case.” Minutes later, the doctor burst in: “We’re calling an ambulance. You have an intussusception,” he recalls.

His intestine had folded in on itself, cutting off blood flow and threatening his life. It was an extreme medical emergency, and immediate intervention was crucial.

From there, he spent a week in the hospital, unable to eat and steadily losing weight. On the seventh day, his intestine finally relaxed on its own, only for the problem to strike again the next day. Another ambulance. Another week in the hospital.

During that second stay, a routine reflex test caused his leg to jerk violently, prompting a full spinal MRI. Shockingly, the scan came back clear. He was sent home again, but the heaviness in his legs only grew, a troubling persistence that hinted this was more than just post-hospital weakness.

“I told myself it was just because I’d been in the hospital for two weeks,” he says. “But I never got that strength back.”

It wasn’t until a follow-up appointment that a doctor finally said: “Something bigger is going on. Something dangerous. You need a larger medical center.”

So, Stone and his mom embarked on a two-and-a-half-year road trip across the country in search of answers. The journey was grueling, both physically and emotionally, as his symptoms gradually worsened: stiffness crept up his left arm, followed by increasing weakness throughout his body. Each inconclusive result deepened frustration; each test a reminder that clarity remained elusive.

By the time he reached a geneticist at the Mayo Clinic in Arizona, he was relying on forearm crutches just to stay upright. The doctor suspected a serious, possibly genetic condition and recommended whole genome sequencing — the most comprehensive DNA test available. The catch: results would take six months. Despite the long wait, Stone agreed, hoping for clarity.

While waiting, back home, his condition continued to deteriorate. He upgraded from a cane to a walker and began neurological rehabilitation, doing everything he could to regain strength.

“I didn’t know if it would help, but I was grasping at straws,” he says.

It was during this time that Stone began posting his first TikTok videos — reaching out for advice, searching for someone who could relate.

His posts quickly gained attention, and for the first time, he felt seen, a small but meaningful validation amid uncertainty.

“I could’ve given up right then, but the universe — or whatever — had other plans,” he says. “A lot of people came into my life suddenly, and they’ve become a huge part of my support system. They continue to help me through my day.”

“That was when my attitude really shifted,” he continues. “I realized I’m stronger than I think, and, most importantly, I’m not alone. That was the lowest point, but connecting with people pulled me out of it. It motivated me to get out of bed, kept me going… connection is so powerful.”

Months passed, and finally, the genetic results came back. But instead of answers, Stone was met with frustration: nothing significant was found. The doctor recommended one last step: a custom genetic panel, carefully designed to analyze 902 genes that might explain his symptoms.

While waiting, his condition worsened, landing him back in the hospital. It was there that ALS — amyotrophic lateral sclerosis — was mentioned for the first time, though the neurologist quickly dismissed it. “You’re too young,” they said. At the time, Stone didn’t even know what ALS was.

When the custom panel eventually returned, it revealed a mutation in his SLC1A2 gene, which affects the glutamate transporter. Mutations in this gene can lead to epilepsy, Alzheimer’s, ALS and balance problems. For Stone, who had lived with epilepsy since age two, the finding was a crucial piece of the puzzle, helping him start connecting the dots.

But despite the insight, he spent nearly the next year in medical limbo — uncertain, undiagnosed and searching for answers. During that time, he continued documenting his journey on social media, keeping his 300,000 followers on TikTok and nearly 140,000 followers on Instagram updated. Eventually, he moved back to Austin to regain independence and be near family and friends, where he began seeing an epileptologist for regular check-ins.

It was during one of these appointments that his doctor noticed something unusual: Stone couldn’t squeeze his left hand. He was referred to an ALS neuromuscular specialist and scheduled for an EMG, a rigorous nerve and muscle assessment. Midway through the test, as needles were inserted into his left side, the doctor and technician exchanged a concerned glance.

Four days later, Stone returned with his mom for the results. This time, the diagnosis was definitive: ALS, a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, causing muscle weakness and loss of control.

While treatments are limited, early intervention can sometimes slow progression. Stone enrolled in a multidisciplinary ALS clinic for ongoing monitoring, but the reality hadn’t fully sunk in. That began to change when he started having trouble breathing — particularly when lying flat.

He went to his GP, who referred him to a pulmonologist. “I told him, ‘Yeah, I was technically diagnosed with ALS,’ and he said, ‘Okay, we need to do a pulmonary function test — like now,' ” Stone recalls.

At the hospital, the test revealed his diaphragm was very weak, explaining why he had difficulty breathing while lying down. He was started on non-invasive ventilation and received his ventilator in March. “That’s when it really started hitting me. I thought, ‘This is scary. This is getting a little too real,’ ” he adds.

“It's crazy — I spent two years trying to get a diagnosis, documenting everything, and then ended up with one of the worst diseases on the planet,” Stone continues.

Yet leaving the office that day, he felt a strange sense of calm. “My body had been in fight-or-flight mode for years, just trying to find answers. Finally, clarity. The question became: What do I do with it?”



He laughs at the memory — but the next step came naturally: sharing the news with the people who had been with him from the beginning.

“It felt so crazy to go on TikTok and say, ‘Guys, we’ve come full circle. After three years of all this, I was finally diagnosed with ALS,’ ” he recalls. “I said there was nothing I could do to change that, but now we can move forward and raise awareness.”

The response online was overwhelming. Followers who had been with him since his earliest TikToks flooded his inbox with messages of love and support. Many said they felt relief that he finally had an answer, even if it wasn’t the one they had hoped for. “The feeling was mutual,” Stone says. “I was relieved to have answers — just not these answers.”

But for him, sharing openly was never just about updates — it was about connection.

“It’s the humanity of it all,” he says. “I want to be raw with people. I want to show every aspect of it, because in return, I see it inspire people to show their true, authentic selves.”

With his diagnosis, Stone has made it his mission to raise awareness about ALS, a disease still shrouded in mystery. Most days, he creates videos, volunteers, connects with associations and reaches out to others living with the disease.

“I can predict exactly what’s going to happen to me, but I still have choices," he says. "I realized I can use this for good, help other people, and bring awareness to a disease that’s severely underfunded and hardly talked about.”

“I truly think that’s my purpose in this life,” he adds. “I want the entire world to know about ALS. It’s so devastating, and yet there are still so many question marks. Scientists, researchers, doctors — they don’t even really know how ALS happens. That’s why awareness matters.”

Even as he pours himself into advocacy and navigates the daily challenges of ALS, Stone searches for moments of normalcy. Though he now spends most of his time in a wheelchair, with his left hand frozen into a claw-like shape and his ability to play guitar lost, he refuses to stop creating music.

Early on, he recorded two hours of his voice to build an AI-powered voice clone, ensuring that when his speech eventually fades, his words will still sound like him. Now, he’s collaborating with an eye-gaze device specialist to attempt something unprecedented: making music using only his eyes.

“It’s strange because I have a 100% fatal disease, but more than ever, I feel like I’m actually living," he says. "I’m fully present. Everything feels slower, and I can truly get the most out of my days. Which is… kind of wild.”

“I think now more than ever, I notice the moments in between — really paying attention to them," he adds. "It’s about the seconds in between the seconds. Everything used to move so fast — another gig, another booking, another show. Now it’s still. Calm."

Most recently, a little over two months ago, the ALS Association reached out with an idea that instantly lit a spark: connecting him with Frankie Torres, a contestant from Season 26 of The Voice on Team Reba, who had lost her father to ALS. They would write a song together for the 2025 ALS NEXUS Convention in Dallas, Texas — one perspective from Stone, living with ALS, and the other from Torres, grieving her father.

Stone didn't hesitate for a single moment.“I said yes before they could even finish the sentence,” he says.

Their first FaceTime call sparked an instant connection. They brainstormed the song, initially planning it to be hopeful and uplifting. But after a particularly difficult day, Stone shared raw journal entries detailing the weight of living with ALS. Those words transformed the song into something honest and unflinching.

Over the next weeks, they recorded the track together. A month and a half after their first conversation, the song was complete. Its world debut came at the ALS NEXUS Convention in Dallas during the Heroes Awards Dinner, honoring those making a lasting impact in the ALS community. Stone performed live from his wheelchair alongside Torres and other Team Reba contestants, filling the room with emotion and love.

"The song is called Losing to the Letters, but it is not about defeat," Stone says. "It is a tribute to every single person affected by ALS. It may feel like we are losing to the letters, but I hope that through advocacy and by pushing for more funding, we can inspire more research and clinical trials that will one day make ALS livable and eventually lead to a cure. I believe with everything in me that day will come. If not in my lifetime, then in the lifetime of someone after me."

"Being 26 years old and living with ALS has taught me a great deal about hope," he adds. "It is easy to let anxiety and fear pull you under when you are faced with a terminal diagnosis, but through this song, I hope people will stand together and know they are never alone."

Jordan Greene

https://people.com/26-year-old-goes-viral-sharing-als-diagnosis-exclusive-11790769

Spinal cord implant

Israel is preparing to perform the world’s first-ever human spinal cord implant using a patient’s own cells, a medical breakthrough that could allow paralyzed patients to stand and walk again, Tel Aviv University announced on Wednesday.

The surgery, expected in the coming months, will take place in Israel and marks a historic milestone in regenerative medicine.

According to the World Health Organization, over 15 million people worldwide are living with spinal cord injuries, with the majority resulting from traumatic causes such as falls, road traffic accidents, and violence.

Currently, spinal cord injuries cannot be fully cured, so treatment focuses on stabilizing the patient, preventing further damage, and maximizing function.

Emergency care often involves immobilizing the spine, reducing inflammation, and sometimes performing surgery to repair fractures or relieve pressure.

Rehabilitation includes physical and occupational therapy, as well as assistive devices like wheelchairs and braces.

https://worldisraelnews.com/worlds-first-human-spinal-cord-implant-to-take-place-in-israel/

Israeli medical breakthrough aims to help disabled walk again

Researchers at Tel Aviv University say they have developed an artificial human spinal cord that was implanted in mice, resulting in over 80% of the tested species being able to move again, having been chronically paralyzed

A new Israeli medical breakthrough is aiming to give disabled individuals the ability to walk, using technology that may signal a dramatic change in the field of treatment of paralyzed people.

A team of researchers at Tel Aviv University, led by Prof. Tal Dvir, managed to develop a human spinal cord and implant it in mice suffering from chronic paralysis.

The research was published Monday in the prestigious Advanced Science Journal released by the Wiley-VCH.

The new method is based on performing a biopsy of human fat tissue from the patient's abdomen. Then, in a process that mimics the embryonic development of the spinal cord, the researchers transformed the cells into human spinal implants.

According to estimates, in order to treat paralyzed people, tens or hundreds of implants will be required for each patient, and the development of each implant would take some five years.

Prof. Dvir and his team members divided the mice suffering from paralysis into two groups: mice with short-term acute paralysis, and mice with long chronic paralysis. After the procedure, all the mice who suffered acute paralysis and 80% of the mice who suffered from chronic paralysis could move and walk again.

The experiment has been conducted so far on mice only, but the university estimates that within two to three years it will be possible to begin clinical trials with human subjects, with the aim of finding out whether the implant can help treat spinal cord injuries in general, and paralysis in particular.

Prof. Dvir explained that the implants are meant to help paralyzed people who either can't walk or move their arms and legs. "The implants we used on mice are human implants and they were made out of human cells, but the number of implants needed for the mice is lower than the one we need to fill the same damaged area in humans. There are still many challenges, but we are optimistic," he said.

Prof. Dvir said his team has been working to develop the technology for some five years.

"Based on this technology, we founded Matricelf company two years ago, and our goal is to bring this technology to the clinics. We produce implants for humans and we are already in discussions with the FDA about approvals. Our ambition is that in two to three and a half years we will be ready for clinical trials.

"The implants demonstrated how paralyzed animals managed to walk again just a few weeks later, and our ambition is that paralyzed people would be able to achieve the same result, and just get out of the wheelchair and start walking, that's our goal and that's where we are heading," Prof. Dvir added.

https://www.ynetnews.com/health_science/article/hkbzfpack

Tel Aviv University researchers have grown human spinal cord stem cells, aiming to help paralyzed patients walk again; after successful animal trials, Health Ministry approves moving forward with human testing

Imagine a reality where a person who lost the ability to walk due to war, an accident or an injury undergoes surgery and rises to their feet again. A team of Israeli scientists is bringing that dream closer to reality.

In 2022, researchers at Tel Aviv University successfully engineered a human spinal cord in a laboratory for the first time. Since then, progress has been rapid, and animal experiments have shown unprecedented success. Now, Ynet has learned, the real test is approaching: the first surgery in a human patient, which could enable a paralyzed person to walk again within a year.

The development is led by Prof. Tal Dvir, head of the Sagol Center for Regenerative Biotechnology and the Nanotechnology Center at Tel Aviv University, as well as chief scientist of the biotech company Matricelf. The company was founded in 2019 based on the groundbreaking organ-engineering technology developed by Dvir and his team at the university, under a licensing agreement with Ramot, Tel Aviv University’s technology transfer company.

“The spinal cord is made up of nerve cells that transmit electrical signals from the brain to all parts of the body,” Dvir explained. “The decision is made in the brain, the signal passes down the spinal cord, and neurons activate the muscles. When the cord is torn by trauma — a car accident, a fall or a battlefield injury — the chain is cut. Imagine an electric cable: when two ends don’t touch, the signal doesn’t pass. The cable won’t conduct electricity, and the person cannot pass signals beyond the injury.”

That, he said, is the major difficulty. Spinal cord injury is one of the few traumas in the body with no natural ability to regenerate. “Neurons don’t divide or renew themselves. They’re not like skin cells, which can repair wounds. They’re like heart cells: once damaged, the body cannot restore them,” Dvir said. “The damage stabilizes at some point, but by then the paralysis is already severe. Over time scar tissue forms, blocking signals, leaving the patient paralyzed below the injury — in the arms and legs if it’s in the neck, or just the legs if in the lower back.”

Dvir first began developing the technology years ago for heart tissue and other organs. Only in 2018 did his team apply it to the spinal cord. The concept is simple to understand but complex to execute.

“The goal is to build a small piece of spinal cord that behaves like the real thing. We can remove the scar tissue, implant the engineered tissue in its place and eventually fuse the new piece with the existing cord above and below the injury. Think of it as inserting a conductor between two cut cable ends, restoring communication,” he said.

The challenge is rejection by the body's immune system. “When tissue comes from another source, the body may attack it. Even if the implant is good, the immune system creates a fibrotic layer around it that blocks the electrical signal,” he explained. “That happens with many implants — breast implants, pacemakers. But here, where the tissue must conduct electricity, insulation ruins the function.”

To overcome this, the team developed a personalized solution. “We take blood cells from the patient. They’re not neurons, but using a Nobel Prize–winning technology from 2012, we reprogram them into stem cells with the ability to become any cell in the body,” Dvir said.

Next comes tissue construction. “Cells alone aren’t enough — if we inject neurons, they’ll die. They need to be organized into tissue,” he said. The researchers harvest fat tissue from the patient, extract collagens and sugars, and use them to create a gel. “This gel is also personalized, just like the cells. We place the reprogrammed stem cells in it and mimic embryonic spinal cord development.”

The result is a full 3D implant. “After a month, we have a three-dimensional tissue full of motor neurons transmitting electrical signals,” he said. “We then implant it at the site of the injury.”

From animals to humans

To test the method, the team began with lab animals. The results were dramatic. “We treated animals with chronic injuries, more than a year old. Over 80% regained the ability to walk perfectly,” Dvir said.

Now comes the human trial. “We submitted our results to Israel’s Health Ministry. Six months ago, we received initial approval for compassionate-use trials in eight patients. Of course, the first patient will be Israeli,” Dvir said. “The technology was developed here, and I trust Israeli surgeons to perform it best. We already have approval to begin drawing blood as soon as the first patient is chosen and cleared.”

The treatment is initially limited to relatively recent injuries, less than a year old. “We won’t start with the most severe cases,” Dvir said. “But once we prove it works, the possibilities are open. We’ll then define criteria like age and injury location, but ultimately, I believe this will help all patients with paralysis.”

Alongside Dvir, key figures driving the project include Matricelf CEO Gil Hakim; Co-founder, Deputy CEO and President Dr. Alon Sinai and Vice President R&D Dr. Tamar Harel Adar with her team. “They got us to approvals so quickly — it’s amazing,” Dvir said.

https://www.ynetnews.com/health_science/article/skk700dgklx

Wertheim L, Edri R, Goldshmit Y, Kagan T, Noor N, Ruban A, Shapira A, Gat-Viks I, Assaf Y, Dvir T. Regenerating the Injured Spinal Cord at the Chronic Phase by Engineered iPSCs-Derived 3D Neuronal Networks. Adv Sci (Weinh). 2022 Apr;9(11):e2105694. doi: 10.1002/advs.202105694. Epub 2022 Feb 7. PMID: 35128819; PMCID: PMC9008789.

Abstract

Cell therapy using induced pluripotent stem cell-derived neurons is considered a promising approach to regenerate the injured spinal cord (SC). However, the scar formed at the chronic phase is not a permissive microenvironment for cell or biomaterial engraftment or for tissue assembly. Engineering of a functional human neuronal network is now reported by mimicking the embryonic development of the SC in a 3D dynamic biomaterial-based microenvironment. Throughout the in vitro cultivation stage, the system's components have a synergistic effect, providing appropriate cues for SC neurogenesis. While the initial biomaterial supported efficient cell differentiation in 3D, the cells remodeled it to provide an inductive microenvironment for the assembly of functional SC implants. The engineered tissues are characterized for morphology and function, and their therapeutic potential is investigated, revealing improved structural and functional outcomes after acute and chronic SC injuries. Such technology is envisioned to be translated to the clinic to rewire human injured SC.

Myasthenia gravis

Tennis champion Monica Seles is speaking publicly for the first time about her battle with a rare, incurable muscle-weakening disease.

Myasthenia gravis (MG) is a chronic neuromuscular disease that causes weakness in "voluntary muscles," according to the National Institute of Neurological Disorders and Strokes.

Voluntary muscles are the ones that connect to the bones, face, throat and diaphragm. They contract to move the arms and legs and are essential for breathing, swallowing and facial movements.

"My MG journey over the past five years has not been an easy one," Seles said in a press release announcing her collaboration with the immunology company argenx. 

"I felt isolated and defeated, as many of the activities I enjoyed were no longer physically possible for me."

Seles' partnership with argenx aims to raise awareness and understanding of MG, and to connect those affected with available tools and resources.

What to know about myasthenia gravis

Myasthenia gravis is classified as an autoimmune disease, according to Dr. Earnest Lee Murray, a board-certified neurologist at Jackson-Madison County General Hospital in Jackson, Tennessee.

This means the body’s own defense system attacks the connection between the nerves and muscles.

"I felt isolated and defeated, as many of the activities I enjoyed were no longer physically possible for me."

"Myasthenia gravis is different from other neuromuscular diseases in that oftentimes, patients’ symptoms fluctuate throughout the day," Murray told Fox News Digital.

Overall symptoms range from very mild double vision and droopiness of the eyelids to difficulty walking, breathing and swallowing.

"Some patients who start with only mild eye symptoms can progress to more severe symptoms in the first few years of their diagnosis," the doctor added.

However, some patients only experience eye issues.

Heat, such as from summer weather or hot showers, can make symptoms worse, according to experts. As physical exertion can also exacerbate symptoms, Murray noted that patients must pace themselves.

Certain health conditions — like COVID-19, the flu or urinary tract infections — can trigger a serious worsening of symptoms, called a "myasthenic crisis," which often leads to hospitalization for closer respiratory monitoring.

It's important for patients to let their physicians know they have myasthenia gravis before starting a new medication, Murray said, as some drugs, including antibiotics, can worsen symptoms. 

"If there is a question, patients can always check with their neurologist," he advised.

Doctors typically manage MG in two ways. First, they may prescribe a medication like pyridostigmine, which can temporarily reduce muscle weakness, according to Mayo Clinic.

They may also prescribe medications that calm the immune system to stop it from attacking the nerves and muscles.

In the past, this immune suppression was done with steroids like prednisone. Now, there are newer medicines that target the disease more directly. These targeted treatments can work well and may cause fewer side effects, according to Murray.

While MG can be serious, the doctor stressed that it’s not the end of the road. 

"Most patients live a fairly normal life, both personally and professionally," he said. "With close management and a neurologist familiar with MG, treatments can be tailored to optimize patients’ quality of life."

Anyone who experiences occasional double vision, eyelid drooping or weakness that gets worse with fatigue should talk to their doctor about getting tested, Murray recommends. 

Diagnosis usually involves blood tests, nerve tests and a neurological evaluation.

Symptoms like trouble breathing, swallowing or holding the head up require immediate emergency care, Murray said.

Khloe Quill 

https://www.foxnews.com/health/tennis-champion-monica-seles-reveals-incurable-disease-doctor-shares-what-know

Nine-time Grand Slam champion Monica Seles is speaking out about her health for the first time after she was diagnosed three years ago with a rare neuromuscular autoimmune disease. 

The International Tennis Hall of Famer revealed her diagnosis of myasthenia gravis in a recent interview with The Associated Press, with the hope of bringing awareness to the disease, which she acknowledged she had not known about before. 

"When I got diagnosed, I was like, ‘What?!’" Seles told the outlet. "So this is where — I can’t emphasize enough — I wish I had somebody like me speak up about it."

Seles, 51, was diagnosed with the disease in 2023. She told the AP that she was concerned when she noticed double vision while playing tennis. Missing a ball was something that stood out for the legendary tennis star, whose career featured four Australian Open titles, three French Open titles and two U.S. Open wins. 

"I would be playing with some kids or family members, and I would miss a ball. I was like, ‘Yeah, I see two balls.’ These are obviously symptoms that you can’t ignore," Seles said. "And, for me, this is when this journey started. And it took me quite some time to really absorb it, speak openly about it, because it’s a difficult one. It affects my day-to-day life quite a lot."

Myasthenia gravis is described by the Cleveland Clinic as an autoimmune disease that causes skeletal muscle weakness. It affects about 20 out of every 100,000 people worldwide and is most common in women around the age of 40 and men over the age of 60. 

Blurry and double vision are just some of the common symptoms, which also include muscle weakness in the arms, hands, legs and neck and difficulty speaking, swallowing or chewing. There is no cure for myasthenia gravis, but treatment is available to help manage symptoms.

Seles called her approach to the diagnosis a "reset," something she’s had to do many times during her tennis career.  

"I had to, in tennis terms, I guess, reset — hard reset — a few times. I call my first hard reset when I came to the U.S. as a young 13-year-old (from Yugoslavia). Didn’t speak the language; left my family. It’s a very tough time. Then, obviously, becoming a great player, it’s a reset, too, because the fame, money, the attention, changes (everything), and it’s hard as a 16-year-old to deal with all that. Then obviously my stabbing — I had to do a huge reset." 

Seles stepped away from the sport for about two years after she was stabbed in Germany during a match in April 1993. She returned to win her fourth Australian Open title in 1996, her final singles Grand Slam title. 

"Being diagnosed with myasthenia gravis: another reset. But one thing, as I tell kids that I mentor: ‘You’ve got to always adjust. That ball is bouncing, and you’ve just got to adjust,’" Seles told the AP. "And that’s what I’m doing now."

The Associated Press contributed to this report. 

Paulina Dedaj

https://www.foxnews.com/sports/tennis-great-monica-seles-opens-up-about-myasthenia-gravis-years-after-shocking-diagnosis

DecodeME genome-wide association study of myalgic encephalomyelitis/chronic fatigue syndrome

Initial findings from the DecodeME genome-wide association study of myalgic encephalomyelitis/chronic fatigue syndrome

DecodeME collaboration

Research output: Working paper › Preprint

Abstract

Myalgic encephalomyelitis / chronic fatigue syndrome (ME/CFS) is a common, poorly understood disease that has no effective treatments, and has long been underserved by scientific research and national health systems. It is a sex-biased disease towards females that is often triggered by an infection, and its hallmark symptom is post-exertional malaise. People with ME/CFS often report their symptoms being disbelieved. The biological mechanisms causing ME/CFS remain unclear. We recruited 21,620 ME/CFS cases and performed genome-wide association studies (GWAS) for up to 15,579 cases and 259,909 population controls with European genetic ancestry. In these GWAS, we discovered eight loci that are significantly associated with ME/CFS, including three near BTN2A2, OLFM4, and RABGAP1L genes that act in the response to viral or bacterial infection. Four of the eight loci (RABGAP1L, FBXL4, OLFM4, CA10) were associated at p < 0.05 with cases ascertained using post-exertional malaise and fatigue in the UK Biobank and the Netherlands biobank Lifelines. We found no evidence of sex-bias among discovered associations, and replicated in males two genetic signals (ARFGEF2, CA10) discovered in females. The ME/CFS association near CA10 colocalises with a known association to multisite chronic pain. We found no evidence that the eight ME/CFS genetic signals share common causal genetic variants with depression or anxiety. Our findings suggest that both immunological and neurological processes are involved in the genetic risk of ME/CFS.

https://www.research.ed.ac.uk/en/publications/initial-findings-from-the-decodeme-genome-wide-association-study-

Leptin deficiency

Benjamin Freitag was always hungry.

When he was a toddler, his family avoided playgrounds in case the ice cream truck came by. If they were going to a family party, food would be kept hidden until mealtime.

At home, Benjamin — whose parents call him Ben — would sit by the pantry where his family stored snacks and sob.

“It was heartbreaking,” says his mother, Karen Freitag, 41, who lives in North Attleborough, Mass., with her husband Jonathan. “It was so hard watching him because you could just tell he was hungry, and he would just cry."

One Christmas, he ate a full meal but wanted more after the holiday dinner was over. “He just sat there crying and wanting to eat nonstop," Karen says.

By 2 years old, he weighed 65 lbs. He outgrew child-sized diapers, so his parents bought adult diapers. His weight prevented him from crawling.

“His dad and I were like, ‘Is he ever going to be able to walk the rate he’s gaining weight?’” his mom recalls. He was 2 years old before he started walking, "which was hard — he was really heavy to carry around."

Even when his parents tried to regulate his food intake or hide it from him, he gained about one pound per week.

By the time he was 3, he weighed almost 100 lbs.

Karen and Jonathan could not understand it, considering he had weighed 8 lbs. at birth, which was big, but not extreme. “He had always been a chubby baby. He was the kid with the cute arm rolls and the big cheeks,” Karen says.

Looking back, Karen remembers something that "made it more obvious" that her son wasn't normal. When he was 9 months old, he had surgery to fix a narrow airway. But after being in a medically induced coma and not eating normally for nearly two weeks, he still gained three or four pounds.

Ben's ENT referred the family to an endocrinologist for blood work.

The initial testing didn't show anything, so the family was referred to a neurologist. The doctors ran genetic panels, and the family took their son to a second endocrinologist at Boston Children's Hospital. And then a third endocrinologist at Massachusetts General Hospital, "because nobody was finding anything," Karen says. "But we just knew something was going on."

More testing followed in summer 2020, including blood tests, urine tests, and mouth swabs. The family was asked if they were open to trying a genetic test related to obesity. "I'm like, 'We're here, let's just do all the things,'" his mother recalls.

In late September 2020, a Mass General endocrinologist called with the test results: Ben had a leptin deficiency. "Which was a relief," his mother says. "Because it was like, 'Okay, so this was a real thing that we weren't just imagining."

LEPR deficiency is a rare genetic condition that prevents the body from properly responding to leptin, the hormone regulating hunger, leading to constant hunger and severe obesity.

"It essentially means that his brain thinks that his body is hungry," Karen explains. "So not only is it telling him he needs food and wants to eat, but it's telling his body to retain the fat because his body thought it was starving. Regardless of whether we let him eat nonstop or didn't let him eat, his body was going to retain the fat."

“His brain really thought he was starving,” reiterates Mary Pat Gallagher, MD, director of the Division of Pediatric Endocrinology and Diabetes at Hassenfeld Children’s Hospital at NYU Langone, who did not treat Ben but has worked with similar patients. “The leptin receptor is critical to being able to pass along the message that you have eaten, and you're not starving.”

An estimated 500 to 2,000 people in the U.S. have leptin-receptor abnormalities, Gallagher says. “It’s extraordinarily rare."

Ben's parents asked if there was a treatment, but the doctor "essentially had no answers," his mother recalls. "It was so rare, at that point, that nobody in her department had treated anyone with the deficiency."

The endocrinologist later connected the family with a doctor at Columbia University in New York who specialized in genetic obesity disorders. While Ben was too young for a medication that had previously been approved for patients 6 and older, researchers were conducting a clinical trial to expand the approval of a drug called IMCIVREE (setmalanotide) for children between 2 and 6 years old. "Of course, by the time we made this connection, the trial was closing and they had already had all of the kids that were going to be in it, and I'm like, 'Oh my goodness, we're so close,'" Karen recalls.

The doctor in New York said that if the family was willing to travel four and a half hours from their home, Ben could participate in the trial. "It was a hike to go to the doctor," his mother says. "There's literally no other choice. If was like, 'If there's medicine that can help, we're going to do it.'"

IMCIVREE works to re-establish the function of the pathway that delivers messages to the brain that the body is satisfied.

“Once he got on the medicine, probably within a week, it was like he was a normal kid,” his mother says. “All of a sudden, all of the food noise was gone, and he would play and not ask for snacks. And if we didn't eat lunch on time, he wasn't looking for food. It was a total 360 from where he was at before.”

Now 6 years old, Ben will be in the first grade. Every morning, he has a daily injection of IMCIVREE.

He plays basketball and takes karate classes. At summer camp, he's been "swimming nonstop," Karen says, He still weighs around 100 lbs. but he has grown about five inches — "he's really sprouted up."

Karen and Jonathan are relieved that Ben can now lead a normal life. He can run up and down a basketball court. He can play with other kids. He can attend birthday parties.

Food no longer controls his day-to-day existence.

"We didn't know if we'd get to this place," Karen says. "It brings me to tears."

Wendy Grossman Kantor

https://people.com/3-year-old-weighed-100-lbs-genetic-condition-crying-always-hungry-11711157

Clinically meaningful reduction in drop seizures in patients with Lennox–Gastaut syndrome treated with cannabidiol

Specchio, N., Auvin, S., Greco, T. et al. Clinically Meaningful Reduction in Drop Seizures in Patients with Lennox–Gastaut Syndrome Treated with Cannabidiol: Post Hoc Analysis of Phase 3 Clinical Trials. CNS Drugs (2025). https://doi.org/10.1007/s40263-025-01201-8

Abstract

Background and Objective

In clinical trials of patients with Lennox–Gastaut syndrome (LGS), a ≥ 50% reduction in drop seizure frequency is generally accepted as a key endpoint. However, smaller reductions (< 50%) may yet be impactful for patients in real-world settings. This exploratory analysis evaluated the threshold for a clinically important response in drop seizures that is associated with the Caregiver Global Impression of Change (CGIC) scale score in patients with LGS treated with cannabidiol (CBD) oral solution and assessed the suitability of CGIC as an anchor for meaningful change.
Methods

This exploratory post hoc analysis included patients with LGS (N = 215, age 2–55 years) receiving CBD (Epidiolex® [USA]/Epidyolex® [EU]; 100 mg/mL oral solution) in two phase 3 randomized placebo-controlled trials (NCT02224690, April–October 2015, and NCT02224560, June– December 2015). Reduction in drop seizures (involving sudden loss of muscle tone) was anchored to CGIC scores of “slightly improved” or better or “much improved” or better, to determine the threshold at which seizure reduction can be considered clinically meaningful to patients. Spearman’s correlation indicated suitability of anchors (absolute value ≥ 0.30 deemed appropriate).
Results

In the 215 patients receiving CBD with a CGIC score recorded, CGIC was “slightly improved” or better in 60% of patients, and “much improved” or better in 31% after 14 weeks of treatment. With a CGIC rating of “slightly improved” or better, the best threshold for a clinically important response in drop seizure reduction was − 30.6% (57.7% of patients). Mean and median percentage reductions in drop seizures were − 46.9% and − 58.6%, respectively. Using “much improved” or better, the best threshold was − 49.6% (40.5% of patients). Mean and median percentage reductions in drop seizures were − 57.6% and − 66.0%, respectively. Spearman’s correlation was 0.47.
Conclusion

Anchoring to CGIC of “slightly improved” or better, the threshold for a clinically meaningful reduction in drop seizure frequency was 31%, suggesting that a 50% cutoff may overlook patients with meaningful improvements in their overall condition, as perceived by their caregivers. CGIC scores, although potentially less nuanced than other standardized clinical assessments, were appropriate anchors to determine thresholds. This exploratory analysis may help contextualize clinical trial data to better understand potential patient benefit attained by reductions in drop seizure frequency observed in real-world settings that are < 50%.

Considerations in transition of pediatric neurology patients to adult care

Doja, A., Muir, K., Harrison, M.E., Healy, S., Vandermorris, A. and Toulany, A. (2025), Considerations in Transition of Pediatric Neurology Patients to Adult Care. Annals of the Child Neurology Society. https://doi.org/10.1002/cns3.70019

Abstract

Background Transition refers to the planned, coordinated movement of adolescents from the child‐ and family‐centered environment of pediatric care to the adult healthcare system. A well‐structured transition process is essential for ensuring adolescents with chronic health conditions continue to thrive in young adulthood. Poor transitions can lead to negative health outcomes, worsening of comorbidities such as anxiety and depression, and poorer psychosocial well‐being. Methods This topical review combines literature from general pediatrics, adolescent medicine, general child neurology, and child neurology subspecialities to provide holistic recommendations for the transition of pediatric patients to adulthood. Conclusions Core principles of transition include starting transition planning early, creating individualized transition plans, providing support before transition, and ensuring ongoing support after transition to adult care. For adolescents with neurological conditions, additional considerations include recognizing that many childhood neurological disorders are now lifelong conditions, addressing the impact of varying levels of intellectual disability, reevaluating the diagnosis at the time of transfer, and establishing emergency care planning.

Factors influencing the duration from the initiation of surgical evaluation to final intervention in pediatric epilepsy surgery

Al-Ramadhani, R., Hyslop, A., Caraway, A.R., Novotny, E.J., Ostendorf, A.P., Eschbach, K.L., Alexander, A.L., Wong-Kisiel, L.C., Depositario-Cabacar, D.F., Oluigbo, C.O., Karakas, C., Karia, S.R., Tatachar, P., Bolton, J., Pichon, P.D., Shrey, D.W., Romanowski, E.F., McNamara, N.A., Gonzalez-Giraldo, E., Auguste, K., Bernardo, D., Singh, R.K., Javarayee, P.K., Lin, J.J., Coryell, J.C., Reddy, S.B., Ganesh, A., Ciliberto, M.A., Samanta, D., Arredondo, K.H., Marashly, A., Grinspan, Z.M., Armstrong, D., Abel, T.J., Wagner, J., Miller, D.J., Galan, F.N. and Perry, M.S. (2025), Factors Influencing the Duration From the Initiation of Surgical Evaluation to Final Intervention in Pediatric Epilepsy Surgery. Annals of the Child Neurology Society. https://doi.org/10.1002/cns3.70027

ABSTRACT

Rationale

Longer duration of epilepsy before surgery is a predictor of poor outcome. While referral delays of surgical candidates are well documented, factors causing delay during the presurgical evaluation remain unclear and may vary depending on institutional characteristics. By benchmarking the duration of presurgical evaluation across multiple centers and identifying patient and evaluation characteristics contributing to duration, we can ascertain best practices and address modifiable contributors to reduce delays.
Methods

We queried the Pediatric Epilepsy Research Consortium Surgery Database, a prospective, observational multicenter study enrolling children 0–18 years at 27 US pediatric epilepsy centers, for all patients undergoing initial presurgical evaluation for drug-resistant epilepsy (DRE). We included patients with completed evaluations and data on duration from initiation of presurgical evaluation to final surgical decision. We compared patient characteristics and evaluation components between those with long duration evaluations (> 75% quartile) and those with short evaluations (< 25% quartile). Akaike information criteria selection identified variables associated with longer duration. From these, we developed a logistic prediction model for evaluation duration, using a random 80/20 training/testing split of the entire cohort. The model was tested among institutions with ≥ 10 patients in the cohort to assess its accuracy in predicting long durations. Linear models for each site assessed each variable's impact on duration. Variables with < 10% of the patient population at each site were excluded. Beta values were compared to identify intra- and inter-institution variability and to delineate institutions with the shortest added duration for each variable.
Results

Of 2318 patients undergoing surgical evaluation, 1655 (71%) from 23 sites had complete data. Median evaluation duration was 8 weeks (interquartile range 3–22); 453 (27%) were short-duration evaluations and 414 (25%) were long-duration evaluations. Multiple patient and evaluation characteristics were associated with duration (Table 1). Table 6 provides the average duration each variable contributes to evaluation by site, highlighting the shortest durations compared with other groups.
Conclusions

Duration of presurgical evaluation for DRE can be accurately modeled using multiple patient characteristics and testing strategies commonly employed in epilepsy surgery evaluations. This predictive model can not only estimate evaluation duration but also identify opportunities to improve systemic efficiency. Institution-level modeling identifies specific program strengths, providing an opportunity to learn from successful processes. Subsequent research will focus on institutional process mapping to better understand systemic practices that lead to improved efficiencies, then sharing these processes across the consortium to shorten evaluation durations.

More on Down syndrome regression disorder 3

Natividade MMP, Moreira AJ, Nassif LS, Dos Santos BRA, Borin MC, Alvares-Teodoro J, Acurcio FA, Guerra AA. Causes of Down syndrome regression disorder: a scoping review. Dement Neuropsychol. 2025 Jul 18;19(Suppl 1):e20240233. doi: 10.1590/1980-5764-DN-2024-0233. PMID: 40740211; PMCID: PMC12306486

Abstract in English, Portuguese

Down syndrome regression disorder (DSRD) is characterized by an acute or subacute neurocognitive regression that severely impacts the autonomy and quality of life of individuals with Down syndrome (DS). Despite its growing recognition, understanding of the condition remains limited, particularly regarding its etiology and the factors contributing to its development.

Objective: The aim of this study was to systematically map the available evidence regarding the potential causes of DSRD and the factors that may contribute to its development.

Methods: Following the Joanna Briggs Institute (JBI) methodology for scoping reviews, a comprehensive three-step search strategy was conducted across MEDLINE (PubMed), Embase, Cochrane, and Lilacs. Studies published in any language were considered, with no restrictions on publication date.

Results: In total, 14 studies met the eligibility criteria. The findings consistently point to chronic autoimmunity and immune dysregulation as potential causes of DSRD. Additionally, the contribution of genetic variants associated with the type 1 interferon inflammatory response has been suggested. Finally, the role of psychosocial and environmental stressors was highlighted, as these are considered potential triggers that precede the onset of DSRD manifestations.

Conclusion: The hypothesis that DSRD is a multifactorial condition seems reasonable. Nevertheless, the immune system may play a central role in its development, as the identified causes converge toward a neuroinflammatory process. Furthermore, the contribution of genetic variants associated with the inflammatory response and the role of psychosocial stressors as triggers for DSRD also appear plausible.

Seenivasan A, Rachamim E, Santoro JD. A Cross-Sectional Study Survey to Develop a Clinical Screen for Down Syndrome Regression Disorder in the United Kingdom. Am J Med Genet A. 2025 Aug 5:e64207. doi: 10.1002/ajmg.a.64207. Epub ahead of print. PMID: 40762403.

Abstract

Down syndrome regression disorder (DSRD) is marked by a sudden loss of previously acquired skills or behavior without a clear cause in individuals with Down syndrome (DS). Awareness of this condition has increased recently, with new therapeutic options under trial. The precise incidence is unknown due to confounding factors and gaps in capturing symptoms within the broader community. The application of narrower guidelines presents challenges in accurately reporting symptoms across the wider DS community. We conducted a survey across the UK based on 2022 DSRD consensus guidelines among parents and carers of children and young adults with DS, with 158 detailed responses about demographics, symptoms, and triggers. The survey revealed critical insights into the challenges faced by parents and carers. Results indicate a significant diagnostic threshold for DSRD within a symptom score range of 20.2-25.6, capturing about 80% of cases. Patients scoring above 20.2 are at high risk for DSRD from a statistical perspective. This threshold is vital for early detection and intervention, potentially improving patient outcomes. While it may overestimate diagnoses, the questionnaire serves as a screening tool for identifying those at risk.

Silverman M, Rezvan PH, Vogel BN, Yousuf MM, Lucas MC, Kazerooni L, Jafarpour S, Santoro JD. Cerebral Blood Flow Abnormalities in Down Syndrome Regression Disorder. Pediatr Neurol. 2025 Jul 18;171:34-40. doi: 10.1016/j.pediatrneurol.2025.07.007. Epub ahead of print. PMID: 40763623; PMCID: PMC12326077.

Abstract

Background: This study aimed to examine cerebral blood flow velocity (CBFV) in the middle cerebral artery (MCA) and internal carotid artery (ICA) of individuals with Down syndrome (DS) and Down Syndrome Regression Disorder (DSRD).

Methods: A single-center, prospective observational study was performed to evaluate CBFV in individuals with DS and DSRD using transcranial Doppler (TCD) ultrasound. Individuals with DS without regression and DSRD were recruited in a 1:1 manner. TCD studies were performed using a standardized protocol for children.

Results: In total, 104 individuals were enrolled, with 60 (57.7%) having DSRD and 44 (42.3%) having DS only. Individuals with DSRD had lower average MCA values (mean difference: -6.89, 95% confidence interval [CI]: -12.88, -0.90; P = 0.024) and ICA values (-4.98, 95% CI: -9.58, -0.38; P = 0.034) when compared with individuals with DS only. These differences were more apparent in the left MCA (-8.97, 95% CI: -15.89, -2.06; P = 0.011) and left ICA (-5.65, 95% CI: -11.11, -0.19; P = 0.042). Age, hemodynamic measures, and neuropsychiatric disease severity did not modify the differences in MCA and ICA between patients with DSRD and DS. However, in patients with DSRD, MCA values decreased on average by -0.40 (95% CI: -0.78, -0.02; P = 0.038) for every unit increase in heart rate compared with patients with DS.

Conclusions: This study revealed CBFV alterations in individuals with DSRD when compared with DS alone, demonstrating reduced CBFV in both the MCA and ICA. These findings suggest disrupted cerebral autoregulation, potentially driven by the presence of catatonia in individuals with DSRD.

The effect of ethanol content of medications on blood alcohol concentration in pediatric patients

Courtesy of a colleague

Chung E, Reinaker K, Meyers R. Ethanol Content of Medications and Its Effect on Blood Alcohol Concentration in Pediatric Patients. J Pediatr Pharmacol Ther. 2024 Apr;29(2):188-194. doi: 10.5863/1551-6776-29.2.188. Epub 2024 Apr 8. PMID: 38596428; PMCID: PMC11001219.

Abstract

Objective: Ethanol is a common excipient used in liquid medications to enhance solubility and inhibit -bacterial growth. While the US Food and Drug Administration (FDA) and European Medicines Agency (EMA) have released guidance for how much ethanol is acceptable in medicines, many medications contain more than the recommended amount. The objective of this study was to determine what effect these medications would have on blood alcohol concentration (BAC) for pediatric patients, defined as those medications that would increase the BAC by ≥2.5 mg/dL.

Methods: A list of medications dispensed to pediatric patients from a single hospital over a period of 4 months was obtained. The package inserts of these medications were reviewed to determine ethanol content. Typical doses were used to determine the amount of ethanol pediatric patients weighing 10, 20, and 40 kg would receive. The theoretical BAC was then calculated for each medication containing ethanol.

Results: Seven hundred ninety-six medications were dispensed for pediatric patients during the study period, of which 33 contained ethanol. Seven medications would be projected to increase the BAC above 2.5 mg/dL with a normal pediatric dose.

Conclusion: While most medications do not contain ethanol, we found 7 that contained enough ethanol to potentially raise the BAC above 2.5 mg/dL. Health care practitioners should consider the ethanol content of medications prior to recommending them in children and when assessing overdoses.

Primary amoebic meningoencephalitis 6

A pediatric death from a "brain-eating amoeba" has been reported in South Carolina, according to health officials.

Prisma Health Richland Hospital in Columbia publicly confirmed the death on July 22, according to a statement from the South Carolina Department of Public Health (DPH) sent to Fox News Digital.

The patient died after exposure to Naegleria fowleri, a rare amoeba that causes a life-threatening brain infection called primary amebic meningoencephalitis (PAM).

"The July 2025 exposure to the organism Naegleria fowleri likely occurred at Lake Murray, but we cannot be completely certain, as this organism occurs naturally and is present in many warm water lakes, rivers and streams," the South Carolina DPH told Dox News Digital.

"Water activities like swimming or diving in warm freshwater areas, such as lakes and rivers, may increase the risk of exposure and infection."

Naegleria fowleri can be a risk when swimming in fresh water. The amoeba is most active in the months that the water temperature stays above 77F – July, August and September, the health official said.

Infection in humans is very rare, as this is the first case of Naegleria fowleri in South Carolina since 2016.

There is no increased risk to the public, as Naegleria fowleri is not transmissible person to person, according to the statement.

"Historically, one infection does not increase the chances that another will occur in the same body of water."

Fox News Digital previously spoke with Tammy Lundstrom, chief medical officer and infectious disease specialist for Trinity Health in Michigan, about the risks of infection.

"The risk of brain-eating amoeba is very low," she said. "Fewer than 10 people in the U.S. every year get infected — but unfortunately, most cases are fatal. There are only a handful of survivors of known cases."

The death rate for Naegleria fowleri exceeds 97%, per the CDC.

The initial symptoms of PAM usually begin about five days after exposure, but they can be noticed sooner.

Early signs usually include headache, nausea, fever and/or vomiting, the CDC’s website states.

As the infection progresses, people may experience confusion, stiff neck, disorientation, hallucinations, seizures and coma.

"People usually start to feel ill one to 12 days after water exposure," Lundstrom said. "Early symptoms should prompt a medical evaluation, as they are also signs of bacterial meningitis."

Death can occur anywhere between one and 18 days of infection, at an average of five days.

To prevent potentially fatal infections, South Carolina health officials said it's important to know how and when exposure could be dangerous.

"How exposure occurs is when water forcefully enters the nose," the officials told Fox News Digital. "To reduce the risk of infection from Naegleria fowleri, hold your nose shut, use nose clips, or keep your head above water, and avoid jumping or diving into fresh water."

"Fewer than 10 people in the U.S. every year get infected — but unfortunately, most cases are fatal. There are only a handful of survivors of known cases." (iStock)

Lundstrom reiterated that it's best to avoid immersing your head in the water when swimming in summer.

"Infection occurs when water harboring the amoeba goes up a person’s nose, usually during swimming," she previously told Fox News Digital. "It is not known why some people get infected and others, even swimming companions, do not."

Drinking contaminated water does not present a risk, and the infection does not spread from one person to another, Lundstrom added.

Because the amoeba is found in soil, the CDC also recommends avoiding stirring up the sediment at the bottom of lakes, ponds and rivers.

When a patient has been diagnosed with a brain-eating amoeba, treatment usually includes a variety of antifungal medications, as well as antibiotics like rifampin and azithromycin, according to Lundstrom.

Miltefosine, a newer antifungal drug, has been shown to kill Nagleria fowleri in laboratory tests and was used to treat some surviving patients, the CDC states on its website.

Treatment usually includes a variety of antifungal medications, as well as antibiotics like rifampin and azithromycin. (iStock)

"However, the effect of all of these drugs on actual infected people is unknown due to the high fatality rate," Lundstrom noted.

Those who experience sudden headache, fever, stiff neck or vomiting — especially if they have recently been swimming in warm freshwater — should seek immediate medical attention, the CDC recommends.

Despite the infection’s high fatality rate, Lundstrom emphasized the rarity of cases.

"Millions of people enjoy swimming every summer, but only a few become infected," she said.

Melissa Rudy

https://www.foxnews.com/health/death-confirmed-rare-deadly-brain-eating-amoeba-southern-lake

More hope for glioblastoma

A New Jersey woman has been given a second chance at life, thanks to a new cancer therapy.

Pamela Goldberger, 65, found out in 2023 that she had glioblastoma — a devastating diagnosis with an average survival of just 14 to 16 months, even with surgery.

In an on-camera interview with Fox News Digital, Goldberger shared that her first symptoms were subtle, other than a severe bout of nausea — until one night at dinner, she used her fork as her knife and her knife as her fork.

Goldberger went to the ER for neurological testing, including MRIs and a CAT scan, which revealed a brain tumor.

"It's pretty devastating news to hear," she said. "I don't know what I thought was happening, but that wasn't it … Our world just stopped."

"We have two little grandchildren, and [I thought] I was never going to have the opportunity to see them grow up. I think that's as devastating as it gets."

Goldberger was admitted to the hospital and scheduled for brain surgery a few days later.

Surgery is standard treatment for this highly invasive brain cancer, but the head of neurosurgery at Cooper University Hospital in Camden, New Jersey, offered Goldberger a different option.

He invited Goldberger to consider joining a clinical trial for an individualized dendritic cell therapy that could help treat glioblastoma, and she agreed to participate.

After the surgery, Goldberger began six weeks of chemotherapy and radiation, and then started six weeks of the investigational cell therapy a few weeks later. That process was followed by another year of chemo maintenance.

Although the healing process was "very gradual," Goldberger said she started to feel like herself again once the oral chemotherapy ended.

Now, 2-½ years after her diagnosis, she is alive, healthy and able to play tennis several times a week. 

Survival rates and treatments for glioblastoma have not changed in 20 years, according to Dr. Joseph Georges, a neurosurgeon at Banner University Hospital in Phoenix, Arizona, who led the clinical trial. 

"It's a highly mutated tumor and there are different cell populations for each patient," he told Fox News Digital. "And the tumor is also very good at silencing the body's immune system from attacking it."

"It's pretty devastating news to hear … Our world just stopped."

The new treatment primes the immune system to detect and kill the tumor cell by creating a vaccine directly from the patient’s tumor, which is collected during surgery.

"We're picking up all these various tumor cell types, and then we're teaching the immune system how to attack the tumor — even the small cells that evade surgical resection," Georges said.

The treatment, which uses dendritic cells taken from patients, was administered to 16 people between 47 and 73 years old who were newly diagnosed with glioblastoma, including Goldberger.

After undergoing chemo and radiation, the patients received three courses of the injection every two weeks, along with weekly injections of a pegylated interferon medication (a type of protein that helps regulate the immune system).

The phase 1 clinical trial showed overall positive results, according to a press release from Diakonos Oncology, the group that developed the treatment, which is called DOC1021 (dubondencel).

The researchers noted positive immune responses and improved survival after treatment. It was also found to be safe with minimal side effects, even at high doses.

"At best, we hope to keep it stable and hope that we don't see it grow, but we are actually seeing tumors disappear for some of these people on their MRIs," Georges told Fox News Digital, which is "something you don't see in glioblastoma."

"It's truly amazing."

While Goldberger still has regular check-ins with her doctors, she reported that she’s feeling "good" and enjoying spending time with her grandchildren, playing tennis, having lunch with friends, reading, shopping and traveling.

"I'm living my best life right now, and I'm not restricted by not being able to do anything that I would want to do," she told Fox News Digital.

For other glioblastoma patients, Goldberger recommends seeking out clinical trial opportunities if available and appropriate, and also urges them to take healing seriously.

"I was a really good patient. I did everything my doctors told me to do," Goldberger said, noting that she walked every day, ate well and got plenty of sleep.

"I surrounded myself with things that made me happy," she went on. "Spent a lot of time with my grandchildren and my family … and only did things that made me happy."

"I think all those things, put together with having excellent medical care and this trial, is the reason [I’m alive]. And a lot of luck."

Georges agreed that patients with recurring glioblastoma should look for clinical trials that may help.

Diakonos Oncology announced on July 22 that the first patient has been dosed in the phase 2 clinical trial of DOC1021. Georges shared that the trial will be available at 20 sites around the country.

Angelica Stabile

https://www.foxnews.com/health/woman-beats-deadly-brain-cancer-experimental-stem-cell-therapy-truly-amazing

Childhood brain tumors

Doctors at OU Children’s Hospital found two brain tumors in a 7-year-old boy from Midwest City — days before the boy underwent a 14-hour surgery to remove one of them.

Julian Arvelo, a soon-to-be 8-year-old, saw an occupational therapist after having difficulties in school. The therapist noticed weakness on the left side of his body.

Doctors ordered an MRI, which was scheduled for February 2026. However, a cancellation last week changed everything.

One hour of waiting turned into two, and the family's suspicions grew.

"I asked, 'What did you find?' And they basically showed me that he had two masses in his brain and I just kind of broke down and cried when I seen it because I didn't expect that at all, especially from my 7-year-old, you know?" said Sean Arvelo, Julian’s dad.

 



Dr. Karl Balsara, Surgical Director of Pediatric Oncology Program at OU Children’s Hospital, said tumors like Julian’s can range from very aggressive to very benign.

“Encountering one of these tumors is really a life-changing event for these families, for these kids. Often times, it comes out of nowhere. It just comes out the blue; very innocuous symptoms. The spectrum of treatment that we have available for them is also pretty broad, but it all starts with getting a diagnosis.”

Doctors removed one of his tumors, which measured around 2 inches, in just under 14 hours.

“We’re waiting for the data that shows us those underlying characteristics of his tumor so we can hopefully go on and treat it further.”

Sean Arvelo said his heart breaks because Julian wants to get out of bed and play.

“He’s up and awake now. He [says], ‘I wanna leave. I wanna go home. I don’t like being here. I hate it.’ And it just breaks my heart because I know he wants to be out of the bed and moving.”

Vanessa Rabe, Julian’s mom, said she tries to explain the situation to him.

"I did try and explain to him, 'Hey, you remember you are here because you have an owie that you can't see but you need to get better. So, I've been trying to explain it to him like that, but he's still sleepy and a little loopy."

His dad said their focus is on getting 1% better every day.

“That’s our mindset.”

As of Thursday evening, Julian was still feeling very weak and sleepy. He can’t stand or walk, his mom shared.

“Despite having this extremely large tumor in his head, he’s actually doing reasonably well,” Dr. Balsara explained.

Julian’s parents said they have to pay out-of-network for some of the biggest expenses.

If you’d like to donate to their GoFundMe, click here.

The family said they would also appreciate anyone who reaches out with support of any kind.

Elizabeth Fitz

https://www.news9.com/story/688c20f7f469fe057181ad09/7-year-old-midwest-city-boy-with-two-brain-tumors-undergoes-surgery-family-needs-help

Infantile meningitis

A Wisconsin mom captured a cute moment with her newborn, not knowing a life-changing diagnosis was about to devastate her family.

Alexa, 26, and husband Dan, 27, (@adventures.of.mommy), who do not share their full names for privacy reasons, posted a short reel on Instagram of their then 2-month-old daughter's signature babble.

"[She was] beginning to babble up a storm," Alexa told Newsweek. "But something really special was her default sound. She liked saying 'Grrr'—it was just too cute to pass up recording."

But what came next would upend their lives. Just two weeks later, despite being vaccinated, Lydia contracted meningitis.

She spent over 50 days in the Pediatric Intensive Care Unit (PICU) with a 25 percent chance of survival.

The infection resulted in the loss of more than half of her brain matter and caused her to lose most of her previously acquired skills.

"As parents, we were rocked to our cores in a way that left us numb and worn out," Alexa told Newsweek.

Now approaching her second birthday, Lydia has been diagnosed with spastic quadriplegic cerebral palsy—a severe form of brain injury that affects all four limbs and her trunk, significantly impacting mobility and muscle control.

"She has to work five times harder to do things I take for granted," Alexa said. "She's spent over 200 hours in therapy just trying to master the ability to hold her own head up."

Perhaps most heartbreaking of all for her family, Lydia's once joyful baby sounds have mostly gone silent.

"Her voice was stolen from her, and the iconic 'Grrr' never returned," Alexa told Newsweek. "But she is beginning to vocalize more and more. Just last week she named her new rhino stuffed animal 'Guah' (goo-ahh) all on her own."

That small vocal milestone has stunned even Lydia's medical team. Her neurologists now refer to her as a "medical miracle," a label her mom takes to heart.

"It's hard to stand idly by as a parent but we really try to keep a positive outlook," Alexa said. "I wholeheartedly believe our optimism—oftentimes rooted in delusion—is at play."

Determined not to accept the limits of current treatment, Alexa and Dan have sought cutting-edge interventions.

Lydia now receives stem cell infusions every six months—the next scheduled for early November—and participates in therapies including photobiomodulation (red light therapy) and pediatric therapy intensives. None of it is covered by insurance.

"It's all out of pocket which seems to be our greatest limitation in maintaining this level of care for Lydia," Alexa said.

Still, she and Dan continue to fight, and document their journey online in hopes of raising awareness.

"We're documenting Lydia's entire miraculous recovery on our social platforms in hopes of bringing more attention to these options that can be life changing," Alexa said. "Her leaps so far have been awe-inspiring."

Daniella Gray

https://www.newsweek.com/mom-captures-moment-not-knowing-tragedy-will-strike-2106227