Vinas P. C.I.,Institute Neurologia Y Neurocirugia INN |
Martin H. I.,INN |
Zaldivar V. T.,INN |
Garofalo G. N.,INN |
And 5 more authors.
Revista Chilena de Pediatria | Year: 2013
Introduction: Infantile Spinal Muscular Atrophy (infantile SMA) is a neurodegenerative disease caused primarily by the deletion of the SMN1 gene at 5q11.1 - 13.3. Its severity ranges from type I, in early childhood, to type IV. Objectives: To describe molecular fndings in patients with SMA, who were nationally referred to the Institute of Neurology and Neurosurgery and to describe the frequency per 100,000 people in each province of the island. Patients and Methods: 105 patients, referred between 1997 and 2011, were studied. The polymerase chain reaction (PCR) technique was used to detect the deletions of exons 7 and 8 of the SMN1 gene, and DraI and DdeI enzymes, in 2% agarose gel, were used for digestion. Results: 59% of the patients were diagnosed with SMA I, 28.6% with SMA II and 12.4% with SMA III. 36.2% of total patients presented deletions of exons 7, 8, 35.2% only deletion of exon 7 and 28.2% did not present deletion of exons. Conclusión: These results are discussed according to the international literature. The frequency per 100,000 inhabitants in each province is presented and discussed according to ancestral diversity of the Cuban population. Also, the originality of the study is mentioned as it is the frst report of this type in a Caribbean population.
Vaillant T.Z.,Institute Neurologia Y Neurocirugia INN |
Gomez N.G.,Institute Neurologia Y Neurocirugia INN |
Diaz J.V.,Institute Neurologia Y Neurocirugia INN |
Massipe E.R.,Institute Neurologia Y Neurocirugia INN |
And 3 more authors.
Revista Cubana de Pediatria | Year: 2012
Introduction: diverse neurological diseases are present in pediatrics and respond to a great number of causes, that is, infectious, genetic, metabolic and degenerative, among others. Within the clinical method in neurology, the genetic diagnosis is related to the etiological diagnosis. There are very few publications that show the frequency of neurogenetic diseases as an etiologic group. Objective: to describe the frequency of some neuropediatric diseases in the Neurogenetics Service of the Institute of Neurology and Neurosurgery. Methods: a prospective and descriptive research study was conducted in the 2008-2010 period. The patients were grouped by age and the frequency rate was estimated for infantile spinal muscular atrophy, Dechenne/Becker-type muscular dystrophy, the static lesions of prenatal genetic origin in the central nervous system, and finally for the classification of the groups by the type of inheritance. Results: the universe of study was composed by 161 patients of whom 72.6% were males, for a sex ratio of 2.5. The schoolchildren were the majority (37.8%) and the average age was 5 years. Duchene type muscular dystrophy was the most frequent (24.8%). Of the total number, 41.40% was classified as recessive autosomal inheritance. The results agreed with those of the literature. Conclusions: the hereditary neuromuscular diseases and the static lesions of the central nervous system of prenatal genetic origin are the most common reasons for the request of genetic counseling in the Neurogenetics Service.
Rodriguez N.S.,Institute Neurologia Y Neurocirugia INN |
Wong M.B.,Institute Neurologia Y Neurocirugia INN |
Perez-Saad H.,Institute Neurologia Y Neurocirugia INN |
Fernandez G.L.,Institute Neurologia Y Neurocirugia INN |
Scull I.,Instituto Polytechnic Villena Revolucion
Revista Cubana de Plantas Medicinales | Year: 2012
Introduction: Morinda citrifolia L. (noni) has aroused great interest and expectations in the Cuban population due to attributed medicinal properties. Several research works have suggested the analgesic effect of several parts of the plant. Objectives: to evaluate the effect of Noni juice in different analgesic models. Methods: there were used 450, 900, and 1 800 mg/kg doses of the juice, based onthe dry content weight. They were administered intraperitonealy to adult male mice OF1 in the peritoneal irritation model induced by acetic acid at 0.6 % concentration, and the number of contorsions or stretchings was quantified. Additionally, the hot plate and the tail immersed in hot water models were applied. Results: the noni juice was effective in reducing the number of contortions induced by the acetic acid in a dose-dependent manner. Just the highest dose of the juice increased significantly the time of reaction in the hot plate and in the tail immersion test. Conclusions: these results suggest that the analgesic effect of Noni juice is basically peripheral.
Rodriguez-Rojas R.,Grupo de Procesamiento de Imagenes |
Machado C.,Institute Neurologia Y Neurocirugia INN |
Carballo M.,Grupo de Procesamiento de Imagenes |
Estevez M.,Institute Neurologia Y Neurocirugia INN |
Chinchilla M.,Institute Neurologia Y Neurocirugia INN
IFMBE Proceedings | Year: 2013
We studied the hemodynamic and metabolic changes, underlying paradoxical effect of Zolpidem, in a patient in Persistent Vegetative State (PVS), using magnetic resonance imaging (MRI) based on BOLD signal and proton spectroscopy (1H-MRS). Significantly increased BOLD signal were transiently localized in frontal cortex. Increased levels of N-Acetyl-Aspartate, Glutamine-Glutamate and Lactate were localized in the same region. Significant linear correlations between BOLD signal and metabolites concentrations were found. We discussed that Zolpidem attaches receptors of the neurodormant cells, leading a dormancy switched off and inducing brain activation. We concluded that 1H-MRS and BOLD signal assessment might contribute to study neurovascular coupling in PVS cases after Zolpidem administration. © 2013 Springer.