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Parent Project Muscular Dystrophy Funds Collection and Analysis of Imaging Data from Eteplirsen Study

Posted: Published on February 2nd, 2013

University of Florida to Receive $59,000 Grant from Duchenne-specific Organization HACKENSACK, N.J., Feb. 1, 2013 /PRNewswire-USNewswire/ -- Parent Project Muscular Dystrophy (PPMD) announced that it has funded $59,000 to Krista Vandenborne, PhD of the University of Florida in Gainesville to test the ability of magnetic resonance imaging (MRI) to detect changes in the muscles of those living with Duchenne muscular dystrophy (Duchenne) who participated in the Sarepta phase II trial of Eteplirsen. (Logo:http://photos.prnewswire.com/prnh/20100119/DC39975LOGO) "This supplemental funding from PPMD allowed us to very quickly take advantage of a trial in progress to see if MRI can detect changes in the amount and quality of muscle in response to an experimental treatment," said Dr. Vandenborne. Eteplirsen is an antisense oligonucleotide-based drug that allows skipping of exon 51 in the dystrophin gene. For approximately 13% of those with Duchenne, skipping exon 51 may lead to the production of a shorter, but functional dystrophin protein. Sarepta Therapeutics recently completed a phase II study of the drug in 12 participants and found evidence of dystrophin production and some improvement in the distance walked in six minutes. Although the six minute walk test has been used as a primary outcome in almost all of the current … Continue reading

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Epilepsy Drug Linked To Increased Risk Of Autism

Posted: Published on February 2nd, 2013

Editor's Choice Academic Journal Main Category: Epilepsy Also Included In: Pregnancy / Obstetrics;Autism;Pediatrics / Children's Health Article Date: 01 Feb 2013 - 0:00 PST Current ratings for: Epilepsy Drug Linked To Increased Risk Of Autism The finding came from new research published in the Journal of Neurology, Neurosurgery and Psychiatry The research involved kids born to 528 pregnant women in England between 2000 and 2004. Fifty percent (243) of the moms had epilepsy, only 34 of those women did not take antiepileptic drugs while pregnant. Carbamazepine was taken by 59 of the women, valproate was taken by another 59 women, lamotrigine was taken by 36, forty-one of the females took a combination, and 15 took other medications. The researchers evaluated the physical and intellectual development of the kids at 12 months, three years, and 6 years of age. The mothers also provided the scientists with information on whether they ever had to seek professional advice concerning their child's development, behavior, health, or educational progress. There were 415 kids who had complete data on all 3 evaluations. A neurodevelopmental disorder was diagnosed in 19 kids by the time they were 6 years old, three of those children were affected by a … Continue reading

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Opening epilepsy unit on a phased basis ‘is bonkers’

Posted: Published on February 2nd, 2013

By Catherine Shanahan Saturday, February 02, 2013 A young woman who lost all her teeth during epileptic seizures, and has undergone plastic surgery for facial injuries, has been refused funding for treatment abroad despite the fact that she cannot get it here. Yvonne Brennan, 27, from Rathfarnham, Co Dublin, is one of more than 250 people waiting for assessment in one of the countrys two epilepsy monitoring units (EMUs), which remain closed. The units, at Cork University Hospital (CUH) and Beaumont Hospital in Dublin, are crucial to understanding why people have epilepsy and how best it can be treated. However neither is open. Beaumont was operating a two-bed unit but it closed for upgrading to a four-bed unit last June. It has remained closed. A second unit at CUH has yet to open. Close to 1m was invested between the two. During the week, the HSE said it intended to open the Beaumont unit on a phased basis, beginning with two nurses instead of five. However, Prof Norman Delanty, director of the epilepsy programme at Beaumont, said this was "completely unsatisfactory". He said a unit that was supposed to operate around the clock, seven days a week, in order to … Continue reading

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Cats and humans suffer from similar forms of epilepsy

Posted: Published on February 2nd, 2013

Public release date: 1-Feb-2013 [ | E-mail | Share ] Contact: Dr Akos Pakozdy akos.pakozdy@vetmeduni.ac.at 43-664-602-576-866 University of Veterinary Medicine -- Vienna There is something sinister about epilepsy: the disease affects the very core of our being, our brain. Epileptic attacks can lead to seizures throughout the body or in parts of it. Clouding of consciousness or memory lapses are also possible. The causes are still only partially understood but in some cases brain tumours, infections, inflammations of the brain or metabolic diseases have been implicated. Epilepsy is not confined to humans and many animals also suffer from it. Together with partners in Oxford and Budapest, Akos Pakozdy and his colleagues at the University of Veterinary Medicine, Vienna have managed to identify the cause of a certain form of epilepsy in cats, in which the body's own immune system attacks particular proteins in the cell membranes of nerve cells. The symptoms include twitching facial muscles, a fixed stare, chewing motions and heavy dribbling. Based on their clinical experience, the researchers believe that this form of epilepsy is fairly widespread in cats. Interestingly, a highly similar type of epilepsy occurs in humans: an inflammation in the brain, known as limbic encephalitis, … Continue reading

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Therapy for Children With Autism – Thousand Oaks – Video

Posted: Published on February 2nd, 2013

Therapy for Children With Autism - Thousand Oaks workingwithautism.com When you are thinking about the well being and happiness of your child, it takes a special connection to trust another person into your home and family. Working With Autism is here to work with you family, hand in hand, during the sometimes difficult and stressful process that is autism therapy and treatment. Our team of dedicated team members are available to help your family in Thousand Oaks by developing the best treatment to meet the needs of your son or daughter. Whether it's speech therapy, occupational therapy, social skills development, etc. you can count on WWA to offer the best solution for your situation. Our goal is to give your autistic child the best future possible. Contact us today to learn more: (877)331-2147 By: WorkingWithAutism … Continue reading

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Autism Treatment in Santa Clarita – Video

Posted: Published on February 2nd, 2013

Autism Treatment in Santa Clarita workingwithautism.com When it comes to the treatment and therapy of your child with autism, we understand how important it is for you to find the right provider. WWA has helped families just like you, maneuver through the autism spectrum disorder journey. We offer a complete treatment, tailored to the individual needs of your child or adolescent. Our services include: -behavioral services -assessments -professional consultations -occupational therapy By: WorkingWithAutism … Continue reading

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Treatment for Autism Spectrum Disorders – Pasadena – Video

Posted: Published on February 2nd, 2013

Treatment for Autism Spectrum Disorders - Pasadena workingwithautism.com We offer complete treatment services in Pasadena for children and teenagers diagnosed with autism spectrum disorders. We believe that it's important to work closely with the parents of the children we work with to achieve the best treatment possible. Our small, but highly professional autism therapy center has a dedicated team ready to begin the journey with you. We offer various services, including parent support groups, professional consultations, and of course, a custom treatment based on the needs of your child. By: WorkingWithAutism … Continue reading

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Therapy and Treatment for Autism Disorders – Video

Posted: Published on February 2nd, 2013

Therapy and Treatment for Autism Disorders workingwithautism.com Tackling the autism spectrum head on can be an overwhelming feeling for most parents. At Working With Autism, our goal is to help alleviate the stress caused by a new diagnosis of the disorder. We provide complete therapy and treatment services for families, such as yourself in the greater Los Angeles area, the San Fernando Valley, and Santa Clarita and Ventura County. Our team of licensed, and experienced therapists are dedicated to helping your child succeed. Contact Us Today! By: WorkingWithAutism … Continue reading

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Autism speaks through gene expression

Posted: Published on February 2nd, 2013

Feb. 1, 2013 Autism spectrum disorders affect nearly 1 in 88 children, with symptoms ranging from mild personality traits to severe intellectual disability and seizures. Understanding the altered genetic pathways is critical for diagnosis and treatment. New work to examine which genes are responsible for autism disorders will be presented at the 57th Annual Meeting of the Biophysical Society (BPS), held Feb. 2-6, 2013, in Philadelphia, Pa. "Autism is the most inheritable of neurodevelopmental disorders," explains Rajini Rao of Johns Hopkins University in Baltimore, Md., "but identifying the underlying genes is difficult since no single gene contributes more than a tiny fraction of autism cases." Rather, she continues, "mutations in many different genes variably affect a few common pathways." A team of scientists at Johns Hopkins and Tel Aviv University in Israel looked at genetic variations in DNA sequence in the ion transporter NHE9 and found that autism-associated variants in NHE9 result in a profound loss of transporter function. "Altering levels of this transporter at the synapse may modulate critical proteins on the cell surface that bring in nutrients or neurotransmitters such as glutamate," says Rao. "Elevated glutamate levels are known to trigger seizures, possibly explaining why autistic patients with … Continue reading

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Genes responsible for autism disorders

Posted: Published on February 2nd, 2013

Washington, Feb 2 (ANI): Genetic screening of at-risk patients may lead to better diagnosis or treatment of autism, a study led by an Indian-origin researcher suggests. As autism spectrum disorders affect nearly 1 in 88 kids, understanding the altered genetic pathways is critical for diagnosis and treatment. "Autism is the most inheritable of neurodevelopmental disorders, but identifying the underlying genes is difficult since no single gene contributes more than a tiny fraction of autism cases," Rajini Rao of Johns Hopkins University in Baltimore, Md. said. Rather, she continues, "mutations in many different genes variably affect a few common pathways." A team of scientists at Johns Hopkins and Tel Aviv University in Israel looked at genetic variations in DNA sequence in the ion transporter NHE9 and found that autism-associated variants in NHE9 result in a profound loss of transporter function. "Altering levels of this transporter at the synapse may modulate critical proteins on the cell surface that bring in nutrients or neurotransmitters such as glutamate," Rao said. "Elevated glutamate levels are known to trigger seizures, possibly explaining why autistic patients with mutations in these ion transporters also have seizures," she added. A unique aspect of the team's approach was that they … Continue reading

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