Orlando, U.S.A. — A cross-disciplinary team of international researchers gathered in Orlando, July 6-7 to present emerging research on the role glucose transporters and glucose metabolism may have in the management of chronic health conditions such as diabetes, cancer treatment, heart disease, epilepsy Glut1 Deficiency Syndrome and Alzheimer’s. The conference represents the first time researchers and healthcare professionals from different specialties have gathered to present research on the topic.

The organization of the conference is all in a day’s work for the mother of two, Samra Savioz. In 2010, she worked with her husband to start a foundation, the Remi Savioz Glut1 Foundation, aimed at raising awareness for their daughter Remi’s rare neurometabolic brain disease, Glut1 Deficiency.

But with many cases still going undiagnosed because of the lack of information available and the rarity of their daughter’s condition, the Savioz’s started to leverage their own medical backgrounds to help others impacted by the disease.

The Foundation has become a valued asset for parents needing support and guidance on treatment options, like the ketogenic diet, which has been identified as an integral part of disease treatment. Now, Samra provides one-on-one diet training and hopes to expand the understanding of how ketones can impact other diseases.

Sponsored by the Remi Savioz Glut1 Foundation, The Glucose Transporter Conference brought together several medical disciplines including pediatrics, neuro-oncology and endocrinology.

Eighteen abstracts were presented on the role of glucose transporters:

Topics for the conference included:

• The link between glucose starvation in shrinking cancerous tumors or slowing down the progression of cognitive diseases.
• Insights into the structural basis of Glut1 transporters in the brain to expand the clinical spectrum.
• Alternative therapies like ketone esters, which can have broader applications, like restoring cognitive function to Alzheimer’s patients or preventing seizures.
• Applying knowledge about glucose metabolism in the brain for obesity and diabetes treatment.
• Among the highlights of the research will be exploring the role of ketone esters.

“The conference will provide an important platform for us to share research focused on exploiting the anti-seizure and neuroprotective effects of therapeutic ketosis. Ketone esters may offer great hope for patients with drug-resistant seizure disorders and neurodegenerative diseases,” stated Dr. Dominic D’Agostino, Ph.D., Professor of Molecular Pharmacology and Physiology, Morsani College of Medicine, University of South Florida before the conference. “Our recent studies have demonstrated that specific ketone esters mimic the anti-seizure effect of fasting and the ketogenic diet.”

Glut1 is a glucose transporter protein, which is directly or indirectly involved in a host of diseases, including cancer and diabetes. Novel therapeutic agents aimed at altering glucose transport activity may have a broad impact on human health. There are four types of glucose transporters with Glut1 being responsible for moving glucose from the bloodstream into all of the cells in the body, especially the brain.

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Louvain La Neuve, Belgium - Treatment of Refractory Epilepsy by Vagus Nerve Stimulation will now be available in Europe. Neurotech, a Belgium based developer and manufacturer of neurostimulation devices, announces that it has obtained the European CE Mark for its ADNS-300 system dedicated to the treatment of refractory epilepsy. The surgically implanted ADNS-300 system delivers mild electrical pulses to the vagus nerve in the neck. Operating as a pacemaker, it produces stimulation towards the brain.

“Advens therapy” uses the ADNS-300 stimulator as a therapeutic option for those patients who are refractory to anti-epileptic drugs and are not eligible for epilepsy (brain) surgery. The ADNS-300 is the world’s first rechargeable neurostimulator for vagus nerve stimulation. The device includes an innovative electrode and a promising “sensing” feature that may prove to be a significant technological breakthrough in the control of response to the therapy. Patients use a remote controller and charger to turn the system on/off and to recharge the neurostimulator. “Rechargeable systems may prove to be more cost-effective, especially if surgical operations to replace batteries are avoided over time. This helps patients to maintain a more independent life, with a lower risk of potential complications associated with battery replacement surgery.”

“We are pleased to have reached this key milestone in the development of our range of our proprietary products and we are looking forward to make this therapy available to all the eligible patients of key European centers of excellence,” said Mr. Michel Troosters, CEO of Neurotech. “We are convinced that this unique, state-of-the-art medical device will prove to be an important tool in the care for patients suffering from refractory epilepsy. The sensing feature, once clinically validated, could represent a paradigm shift in the VNS field,” added Mr. Troosters. Early clinical testing of the device and its different features have shown promising results (El Tahry R, Raedt R, Mollet L et al, A novel implantable vagus nerve stimulation system (ADNS-300) for combined stimulation and recording of the vagus nerve.

The prevalence of active epilepsy is roughly in the range of 5-10 per 1.000 people according to the World Health Organization. Approximately 1/3 of epileptic patients are considered “refractory” and thus potential candidate for the Advens therapy.

“The commercial outlook of Neurotech is very attractive in Europe with diversified applications in the product pipeline. We are now ready to open the capital of the company to new investors who will position Neurotech as the world-class neuromodulation company,” according to Mr. Philippe Durieux, CEO of Sopartec and board member of Neurotech. The market launch of this new product is scheduled with a gradual roll-out to most European countries.

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On March 31, an estimated 5,000 people impacted by epilepsy rallied together on the National Mall in Washington, D.C. at the Epilepsy Foundation’s National Walk for Epilepsy.  It was here that UCB, “The Epilepsy Company” and silver sponsor of the event, debuted the “My Four Words” project, challenging attendees to express their personal journey with epilepsy in just four words.

The “My Four Words” project generated buzz and spurred conversation about a condition that is often misunderstood. Caregivers, friends and family members also contributed their four words to the project.

UCB was represented by a team of 50, further demonstrating their commitment to the epilepsy community.  In addition to the “My Four Words” project, UCB provided participants with information about patient programs that include Epilepsy Advocate, Canine Assistants and the UCB Epilepsy Family Scholarship Program.

“My four words were, ‘STARTED A SUPPORT GROUP’ – the first ever in Nebraska for people with epilepsy, in fact,” said Heather Overton, Epilepsy Advocate. ”Shortly after graduating college, I was so excited by my newfound freedom that I wanted to share my experience with others. I often tell my group, which has grown to over 30 members, how I’ve worked with my epileptologist to find a treatment plan that works for me.”

The 20 Advocates and hundreds of people living with epilepsy who shared their stories in four words represented the nearly three million people in the U.S. living with this chronic neurological disorder.(1)  Epilepsy occurs across all ages, races and genders and is defined as two or more unprovoked seizures.  Seizures are caused by abnormal electrical signals from the brain that can result in changes in attention or behavior.(2)

Although seizures can be disruptive and debilitating, the four word stories offered hope that more is possible. They communicated challenges and triumphs, expressed the importance of raising awareness, honored loved ones and inspired those living with epilepsy to continue striving for seizure control.

“UCB is dedicated to helping those with epilepsy realize more may be possible, and the ‘My Four Words’ project is yet another important step in our ongoing commitment to empowering people to speak out and change the way the condition is perceived,” said Sue Curro, Vice President, UCB Patient Solutions. “We were thrilled to see the great outpouring of emotion the project inspired at the National Walk for Epilepsy.”

The Epilepsy Foundation’s National Walk for Epilepsy is in its sixth year and was established to raise awareness and overcome the challenges created by epilepsy. This year’s turnout was the biggest to date, and attendees further supported the cause by participating in the “My Four Words” project.

“The ‘My Four Words’ project was a great way to ignite dialogue about a condition that is too often silenced,” said Former Rep. Tony Coelho (D-Calif.), interim CEO of the Epilepsy Foundation. “The National Walk for Epilepsy brought people together and inspired attendees, and the nation, to talk about epilepsy and the importance of seizure control.”

To view these personal stories, images from the walk, and to learn more about seizures and epilepsy, visit www.facebook.com/EpilepsyAdvocate.

Image Courtesy of   https://www.facebook.com/EpilepsyFoundationofAmerica

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New research suggests women who have migraine or have had them in the past are at an increased risk for developing depression compared to women who have never had migraine. The study was released on February 22, 2012 and will be presented at the American Academy of Neurology’s 64th Annual Meeting in New Orleans April 21 to April 28, 2012.

For the study, researchers classified 36,154 women without depression who were enrolled in the Women’s Health Study and had provided information about migraine. Women were classified as either having active migraine with aura, active migraine without aura, past history of migraine (but not within the last year) or no history of migraine. Women also provided information about diagnoses of depression.

A total of 6,456 women had current or past migraine. During an average 14 years of follow-up, 3,971 of the women developed depression. Women with any history of migraine were about 40 percent more likely to develop depression than women without a history of migraine. The results were the same regardless if a woman had migraine with aura, which involves visual disturbances that appear as flashing lights, zigzag lines or a temporary loss of vision.

“This is one of the first large studies to examine the association between migraine and the development of depression over time,” said Tobias Kurth, MD, Sc.D., with Brigham and Women’s Hospital in Boston and Inserm in France and a Fellow of the American Academy of Neurology. “We hope our findings will encourage doctors to speak to their migraine patients about the risk of depression and potential ways to prevent depression.”

The study was supported by the National Heart, Lung, and Blood Institute and the National Cancer Institute. The American Academy of Neurology, an association of more than 25,000 neurologists and neuroscience professionals, is dedicated to promoting the highest quality patient-centered neurologic care. A neurologist is a doctor with specialized training in diagnosing, treating and managing disorders of the brain and nervous system such as stroke, Alzheimer’s disease, epilepsy, Parkinson’s disease and multiple sclerosis.

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Because of care advances, more infants and children with previously lethal health problems are surviving. Many, however, are left with lifelong neurologic impairment.

A Children’s Hospital Boston study of more than 25 million pediatric hospitalizations in the U.S. now shows that neurologically impaired children, though still a relatively small part of the overall population, account for increasing hospital resources, particularly within children’s hospitals.

Their analysis, based on data from the Agency for Healthcare Research and Quality Kids’ Inpatient Database, was published online January 17 in PLoS Medicine. The researchers analyzed KID data from 1997, 2000, 2003, and 2006, encompassing 25.7 million hospitalizations of children age 0 to 18. Of these, 1.3 million hospitalizations were for children with neurologic conditions, primarily cerebral palsy and epilepsy.

During the 10-year period, children with neurologic diagnoses were admitted more to children’s hospitals and less to community hospitals. At non-children’s hospitals, they made up a falling share of admissions (from 3 percent in 1997 to 2.5 percent in 2006); at children’s hospitals, they made up a rising share (from 11.7 percent of admissions in 1997 to 13.5 percent in 2006).

Within children’s hospitals, neurologically impaired children accounted for an increasing proportion of resources: In 2006, they accounted for 25 percent of all bed days (up from 21.8 percent in 1997) and 29 percent of hospital charges ($12 billion, up from 27 percent in 1997).

“Our findings suggest that children’s and non-children’s hospitals are caring for increasingly different populations of children,” says first author, Jay Berry, MD, MPH, an attending physician in the Complex Care Service at Children’s Hospital Boston.  “Children with neurologic impairment tend to require expensive, lengthy hospitalizations. As policymakers increasingly focus on healthcare costs, we must be careful to not jeopardize the care these children receive as health reforms are considered.”

The researchers note that improved care delivery and coordination could lead to reduced hospital utilization and better patient outcomes. Children with severe neurologic conditions commonly have additional health problems, such as respiratory and feeding problems, that make their care needs more complex. Yet studies indicate that pediatric providers often feel unprepared to assess and treat them.

The result, the researchers write, is uncoordinated, crisis-driven care that can lead to a disproportionate share of emergency care and frequent re-hospitalizations that drive up costs. “We’re nervous that many children with neurologic impairment are without a healthcare provider who is taking charge of their care and making sure that all of their healthcare needs are adequately addressed,” says Berry.

In the study, inpatient utilization increased most markedly among neurologically impaired adolescents. Across all hospitals, this group of children had a 28 percent increase in hospitalizations from 1997 to 2006, while children of the same age without neurologic diagnoses had an 8.4 percent decrease in hospitalizations.

“Children with severe neurologic impairment tend to have more health problems as they reach adolescence and young adulthood,” says Berry. “This coincides with a difficult period where they begin to outgrow their pediatric providers, but have trouble transferring their care to adult providers.”

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A new white paper from the Tuberous Sclerosis Alliance (TS Alliance), entitled Unlocking a Cure for Tuberous Sclerosis Complex: An Assessment of Scientific Progress and Research Needs, concludes that research on the rare genetic disease “is poised for providing new therapies that modify progression of the disease, and possibly even prevent some the most devastating manifestations,” according to the publication’s author, Vicky Holets Whittemore, Ph.D.  Dr. Whittemore formerly served as the TS Alliance’s Chief Scientific Officer.

Tuberous sclerosis complex (TSC) is a multi-system genetic disorder that causes tumors to form in vital organs, primarily the brain, heart, eyes, kidneys, lungs and skin. It’s also the leading genetic cause of both autism and epilepsy.  Approximately 50,000 people in the United States suffer from the disease, and it has an estimated incidence of 1 in 6,000 live births.  More than 1 million people world wide have TSC.

“Our goal with this white paper was to identify key areas of TSC clinical care and research where significant progress has been made, areas where research is needed, the barriers to progress in TSC research, and the unmet clinical needs of people with TSC,” explains TS Alliance President & CEO Kari Luther Rosbeck.

“Dr. Whittemore interviewed 27 key opinion leaders to assess these issues, and the resulting publication provides a road map of where we’ve been, but more importantly, where TSC research needs to go to ensure a better quality of life for anyone affected by TSC.” The publication describes key discoveries that led to recent clinical trials, which are providing new treatment strategies.

Such achievements in TSC research include the identification of the genes causing TSC and the definition of the role of these genes in cellular pathways.  While the cure for TSC has not been found, new, additional treatments offering the best quality of life for those with TSC while maintaining their health will continue to be indentified over the coming decade.

Formed in 1974, the TS Alliance is the only U.S.-based non-profit organization dedicated to finding a cure for TSC while improving the lives of those affected.  For more information, visit www.tsalliance.org or call 800-225-6872.  The white paper is available for download at www.tsalliance.org/documents/TS_Alliance_White_Paper.pdf.

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About half of newborns who have seizures go on to have long-term intellectual and memory deficits and cognitive disorders such as autism, but why this occurs has been unknown. In the December 14 Journal of Neuroscience, researchers at Children’s Hospital Boston detail how early-life seizures disrupt normal brain development and show in a rat model that it might be possible to reverse this pathology by giving certain drugs soon after the seizure.

A research team led by Frances Jensen, MD, in the Department of Neurology and Division of Neuroscience at Children’s, studied seizures in a rat model to see how they affected brain development at the cellular and molecular level, and whether these effects could be countered. They were particularly interested in the effect of seizures on synapses, the connections between neurons through which the brain is wired, since infancy is a time of rapid synapse development.

Examination of tissue from the hippocampus, a part of the brain important in learning and memory, showed that after seizures, the newborn rats had a far smaller pool of inactive or “silent” synapses, which normally predominate soon after birth. Instead, more synapses than normal had been converted to an excitable form by acquiring more so-called AMPA receptors. (AMPA stands for alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid.)

While an excitatory brain state and strengthening of synaptic connections are normal and necessary for cognitive development, Jensen’s team found that seizures exaggerated excitation and synaptic strengthening too soon, to the point where synapses lost their flexibility to change in response to input from the environment, a quality known as plasticity. All these changes were evident within two to three days after the seizure.

“Our results show that once a seizure occurs, brain tissue has less synaptic plasticity,” says Jensen. “Seizures have ‘fixed’ the synapses so they have much less potential to respond to experience.” Since early-life seizures can lead to epilepsy, Jensen believes the results may help explain the cognitive impairments seen in many people with epilepsy.

After a seizure, the rats’ brain tissue also showed a decrease in long-term potentiation (LTP), a change in the strength of synaptic connections that is critical in learning and memory, indicated by reduced electrical responses to stimulation of neurons. LTP is a widely accepted molecular measure of learning.

These effects appear to be reversible, however. When the rats were given a drug that blocks AMPA receptors, known as NBQX, immediately to 48 hours after seizures, these problems were reversed: Inactive synapses and LTP were preserved, and the protective effects lasted into adulthood.

Since drugs similar to NBQX are already FDA-approved for other indications, Jensen believes these results might eventually lead to a clinical trial in newborns who have had seizures.

“Because we can reverse the strengthening of synapses, we might be able to modify the disease after the fact, which is one step in the right direction toward thinking about potential strategies for cures,” she says. “Epilepsy has many mechanisms and potential therapeutic targets, but this is one that may be important in undoing the cognitive effects that epilepsy may have.”

Some 80-120 newborns per 100,000 births each year in the U.S. suffer seizures, often caused by brain damage from a shortage of oxygen around the time of birth.

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