A meeting of 29 senior scientists from Europe, the USA, India and Australia, was held in Naarden, The Netherlands on November 14–16, 2008, to establish consensus Best Practice Guidelines for molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD/BMD)
A meeting of 29 senior scientists from Europe, the USA, India and Australia, was held in Naarden, The Netherlands on November 14–16, 2008, to establish consensus Best Practice Guidelines for molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD/BMD).
New therapeutic trials for DMD demand accurate diagnosis of the disorder, especially where the therapy is targeted towards specific mutations. These guidelines aim to help diagnostic laboratories attain that accuracy by describing the minimum standards for acceptable molecular diagnostic testing of DMD.
For the different types of clinical referral received by a molecular diagnostic laboratory, the guidelines recommend the appropriate tests to be carried out, interpretation of the results and how those results should be reported.
The meeting report has recently been published in Neuromuscular Disorders and is available to download.
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Results of a recently published study has shown that children with new/recent onset epilepsy have significantly slowed expansion of white matter volume compared to healthy children over a two year interval. The reduced white matter volume may affect brain connectivity and influence cognition. The study conducted by researchers from the University of Wisconsin School of Medicine and Public Health is published in Epilepsia, published on behalf of the International League Against Epilepsy.
Brain development in children with new onset epilepsy:A prospective controlled cohort investigation
Epilepsia, **(*):1–9, 2010
doi: 10.1111/j.1528-1167.2010.02563.x
*Bruce P. Hermann, *Kevin Dabbs, yTara Becker, *Jana E. Jones, *Adan Myers y Gutierrez,zGary Wendt, xMonica A. Koehn, yRaj Sheth, and {Michael SeidenbergDepartments of *Neurology, yBiostatistics, and zRadiology, University of Wisconsin School of Medicine and Public Health,Madison, Wisconsin, U.S.A.; xEpilepsy Center, Marshfield Clinic, Marshfield, Wisconsin, U.S.A.; and {Department of Psychology,Rosalind Franklin University of Medicine and Science, North Chicago, Illinois, U.S.A.
SUMMARY
Purpose: To characterize prospective neurodevelopmental changes in brain structure in children with new and recent-onset epilepsy compared to healthy controls.
Methods: Thirty-four healthy controls (mean age 12.9 years) and 38 children with new/recent-onset idiopathic epilepsy (mean age 12.9 years) underwent 1.5 T magnetic resonance imaging (MRI) at baseline and 2 years later. Prospective changes in total cerebral and lobar gray and white matter volumes were compared within and between groups.
Results: Prospective changes in gray matter volume were comparable for the epilepsy and control groups, with significant (p < 0.0001) reduction in total cerebral gray matter, due primarily to significant (p < 0.001) reductions in frontal and parietal gray matter. Prospective white matter volume changes differed between groups. Controls exhibited a significant (p = 0.0012) increase in total cerebral white matter volume due to significant (p < 0.001) volume increases in the frontal, parietal, and temporal lobes. In contrast, the epilepsy group exhibited nonsignificant white matter volume change in the total cerebrum (p = 0.51) as well as across all lobes (all p’s > 0.06). The group by white matter volume change interactions were significant for total cerebrum (p = 0.04) and frontal lobe (p = 0.04).
Discussion: Children with new and recent-onset epilepsy exhibit an altered pattern of brain development characterized by delayed age-appropriate increase in white matter volume. These findings may affect cognitive development through reduced brain connectivity and may also be related to the impairments in executive function commonly reported in this population.
KEY WORDS: MRI, Epilepsy, Longitudinal.
Free full text is available here
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The 19th International Cleveland Clinic Epilepsy Symposia (October 1-6, 2010) offers two CME-certified symposia:
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Dr. Jessell has been, for twenty years, co-author of what became Kandel, Schwartz, and Jessell’s Principles of Neuroscience, and by the same trio, Essentials of Neural Science and Behavior.” These texts constitute the modern vademecum initially guiding future scientists and clinicians into neuroscience and its clinical relevance.
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The Congress was dedicated to the exchange of information on the latest advances in research and clinical practice in neuropaediatrics as well as to the fostering of collaboration and friendship between neurologists, paediatricians, psychiatrists and other neuroscientists, worldwide. Following previous traditions, the 11th International Child Neurology Congress included fifteen Symposia covering themes such as: CNS Infections, Epilepsy, Neonatal Neurology and Hypoxic-Ischemic Encephalopathy, Neurogenetic Disorders, Head Injury and Neuroprotection, Neurodevelopmental Disabilities, Disorders of Neuronal Migration, Neurometabolic Disorders, Headache, Pediatric Stroke, Sleep Disorders, Demyelinating Diseases and Leukodystrophies, Neuromuscular Disorders and Peripheral Neuropathies, Neurooncology, Advances in Neuroimaging Techniques and the Global Burden of Neurological Diseases.
The six Plenary Sessions included key topics such as Genetic and Epigenetic Mechanisms of Brain Development, Advances in Treatment and Understanding of Pathophysiological Mechanisms of Muscular Dystrophies and Sarcoglycanopathies, Advances in Neuroprotection and Neurointensive Care, Novel Treatment Strategies in Mitochondrial Disorders, Neuronal Stem Cells for CNS Repair and Neurodegenerative Disorders, and Medicine in Ancient Egypt with outstanding international speakers.
In addition, there were sixteen 'meet the expert' sessions with approaches to diagnosis, latest updates and/or selected case presentations from participants which will allow congress participants to interact one-on-one with selected experts.
Historical dates:
1st Nov 2008: Conference registration opens
5th Nov 2009: Deadline for abstract submission
5th Nov 2009: Close of Early Bird Registration
15th December 2009: Notification of Abstract acceptance
30 April 2010: Close of late Registration
1st May 2010: Pre-Congress Satellite Symposia
2nd May 2010: Workshop on Children At Risk
2nd May 2010 : Opening Ceremony
3rd-7th May 2010 : Main Congress
6th May 2010 : Gala Dinner
8th May 2010 : Post Congress Satellite Symposia
ICNApedia - Plenary sessions, symposia and focus groups talks at the ICNC2010
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