Handbook of Pediatric Electroencephalography by Veena Kander now on ICNApedia VLE

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Leukemia drug dasatinib shows promise for treating duchenne muscular dystrophy

Professor Winder's group at the University of Sheffield investigating the cancer drug, dasatinib, a potent and specific Src tyrosine kinase inhibitor has shown that it decreases the levels of β-dystroglycan phosphorylation on tyrosine and to increase the relative levels of non-phosphorylated β-dystroglycan in dystrophic sapje zebrafish. Tyrosine phosphorylation and degradation of β-dystroglycan is a key event in the aetiology of Duchenne muscular dystrophy. Dasatinib treatment resulted in the improved physical appearance of the sapje zebrafish musculature and increased swimming ability as measured by both duration and distance of swimming of dasatinib-treated fish compared with control animals. These findings show great promise...
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CRISPR gene editing successfully treats Duchenne Muscular Dystrophy in Mice

Researchers have shown that they were able to improve muscle function in  Duchenne Muscular Dystrophy mice using in vivo gene editing techniques. Duchenne muscular dystrophy (DMD) affects about 1 out of 5000 male births and caused by mutations in the dystrophin gene. Though DMD has been a target for gene therapy for a long time, progress has been very slow and attempts unsuccessful.The dystrophin gene has 79 sections, or exons, but can retain reasonable function even if a few exons in the middle are lost. Dystrophin works as long as its two ends are intact as in the case of Becker...
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New drug target for Rett syndrome identified

In a paper published on Jan. 4, 2016, in the online Early Edition of the journal Proceedings of the National Academy of Sciences, researchers from Penn State University reports on the discovery of a novel drug target, which could help in the treatment for Rett Syndrome and other forms of autism-spectrum disorders. In this work, the researchers demonstrate that human neurons derived from induced pluripotent stem cells (iPSCs) from patients with Rett syndrome (Rett neurons), show a significant deficit in neuron-specific K+-Cl− cotransporter2 (KCC2) expression, leading to an impaired GABA functional switch from excitation to inhibition. Restoring KCC2 level rescued GABA...
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Charles Kennedy

Charles Kennedy, one of the first child neurologists in the USA, passed away on October 6, 2015 in Maine at the age of 95 following a brief illness. Born in Buffalo, NY, he attended Nichols School and later Deerfield Academy. He graduated from Princeton University with honors in Chemistry in 1942. At Princeton, in addition to preparing for medical school, he was also a member of the choir, glee club and the Princeton Nassoons (an all male a cappella group). He went on to receive his MD degree at the University of Rochester while in the Navy V-12 program. Internship was...
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Etiology remains unknown in recent Acute Flaccid Paralysis cases in North America

There have been nearly 60 cases identified in California from 2012 - 2015 of acute flaccid myelitis, a rare syndrome described as polio-like, with most patients being children and young adults, according to a study in the December 22/29 issue of JAMA. The cause of the condition in these cases remains unknown. With the elimination of wild poliovirus in populations throughout most of the world, the clinical syndrome of acute flaccid paralysis (characterized by weakness or paralysis and reduced muscle tone) due to spinal motor neuron injury has largely disappeared from North America. Despite occasional case reports, the absence of centralized...
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