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Hospital de Órbigo, Spain

Casanova-Molla J.,Unitat dEmg | Leon L.,Servei de Neurologia | Castillo C.D.,Unitat dEmg | Valls-Sole J.,Unitat dEmg
Muscle and Nerve

Introduction: Reinnervation activity is triggered after complete unilateral peripheral facial palsy (PFP). Methods: In 27 patients with PFP we recorded electromyographic activity with a concentric needle electrode inserted 1 cm lateral to the oral commissure of the affected side. We applied electrical stimuli to the unaffected (contralateral) facial nerve from the tragus to the mid-lower lip and measured the response latency variability and segmental conduction velocity. Results: Responses to electrical stimulation of the unaffected facial nerve were found in all patients. Mean conduction velocity was 49.6 ± 6.2 m/s between tragus and oral commissure, and 6.0 ± 1.9 m/s between oral commissure and mid-lower lip. Latency variability was 0.27 ms to facial nerve stimulation and 0.08 ms to oral commissure stimulation. Conclusion: Short distance sprouting of axons that innervate muscle fibers, which originate from the unaffected facial nerve, results in propagation of impulses to muscle fibers in the midline. © 2011 Wiley Periodicals, Inc. Source

Molins Albanell A.,Servei de Neurologia

In 1997, levetiracetam was approved as a monotherapy treatment for partial epilepsy in patients younger than 16. A randomized-controlled trial with active drug (slow-release carbamazepine) confirmed the early communications of off-label retrospective studies. No high significance trial has showed effectivity in pediatric trials. Aside from the approved indications, some studies suggest a high effectivity in generalized idiopathic epilepsies and even in several catastrophic syndromes. Levetiracetam turned out to be one of the preferred drugs in special populations (elder, oncologic and stroke patients) due to its pharmacokinetic properties and its high tolerability. Several studies show promising results in other pathologies like migraine, neuropathic and central pain, social phobia and cramps. Source

Corominas R.,Hospital Universitari Vall dHebron | Sobrido M.J.,Fundacion Publica Galega de Medicina Xenomica | Sobrido M.J.,CIBER ISCIII | Ribases M.,Hospital Universitari Vall dHebron | And 10 more authors.
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

In order to evaluate the contribution of 19 serotonin-related genes to the susceptibility to migraine in a Spanish population we performed a case - control association study of 122 single nucleotide polymorphisms (SNPs), selected according to genetic coverage parameters, in 528 migraine patients - 308 with migraine without aura (MO) and 220 with migraine with aura (MA) - and 528 sex-matched migraine-free controls. The single-marker analysis identified nominal associations with the migraine phenotype or with the MO or MA subtypes. The multiple-marker analysis revealed risk haplotypes in three genes that remained significantly associated with migraine after correction by permutations. Two-marker risk haplotypes were identified in theHTR2B(rs16827801T-rs10194776G) andMAOA (rs3027400G-rs2072743C) genes conferring susceptibility to MO, and a four-marker haplotype in DDC was specific of MA (rs2329340A-rs11974297C-rs2044859T-rs11761683G). The present study supports the involvement of HTR2B and MAOA genes in the genetic predisposition to MO, while DDC might confer susceptibility to MA. These results suggest a differential involvement of serotonin-related genes in the genetic background of MO and MA. © 2009 Wiley-Liss, Inc. Source

Tajes M.,University Pompeu Fabra | Ramos-Fernandez E.,University Pompeu Fabra | Weng-Jiang X.,University Pompeu Fabra | Bosch-Morato M.,University Pompeu Fabra | And 7 more authors.
Molecular Membrane Biology

The blood-brain barrier (BBB) is constituted by a specialized vascular endothelium that interacts directly with astrocytes, neurons and pericytes. It protects the brain from the molecules of the systemic circulation but it has to be overcome for the proper treatment of brain cancer, psychiatric disorders or neurodegenerative diseases, which are dramatically increasing as the population ages. In the present work we have revised the current knowledge on the cellular structure of the BBB and the different procedures utilized currently and those proposed to cross it. Chemical modifications of the drugs, such as increasing their lipophilicity, turn them more prone to be internalized in the brain. Other mechanisms are the use of molecular tools to bind the drugs such as small immunoglobulins, liposomes or nanoparticles that will act as Trojan Horses favoring the drug delivery in brain. This fusion of the classical pharmacology with nanotechnology has opened a wide field to many different approaches with promising results to hypothesize that BBB will not be a major problem for the new generation of neuroactive drugs. The present review provides an overview of all state-of-the-art of the BBB structure and function, as well as of the classic strategies and these appeared in recent years to deliver drugs into the brain for the treatment of Central Nervous System (CNS) diseases. © 2014 Informa UK Ltd. Source

Bernal S.,Servei de Genetica | Alias L.,Servei de Genetica | Barcelo M.J.,Servei de Genetica | Also-Rallo E.,Servei de Genetica | And 7 more authors.
Journal of Medical Genetics

Homozygous mutations of the telomeric SMN1 gene lead to degeneration of motor neurons causing spinal muscular atrophy (SMA). A highly similar centromeric gene (SMN2) can only partially compensate for SMN1 deficiency. The c.859G>C variant in SMN2 has been recently reported as a positive disease modifier. We identified the variant in 10 unrelated chronic SMA patients with a wide spectrum of phenotypes ranging from type II patients who can only sit to adult walkers. Haplotype analysis strongly suggests that the variant originated from a common ancestor. Our results confirm that the c.859G>C variant is a milder SMN2 allele and predict a direct correlation between SMN activity and phenotypic severity. Source

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