Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias

San José de las Lajas, Cuba

Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias

San José de las Lajas, Cuba
SEARCH FILTERS
Time filter
Source Type

Diaz A.A.,Organizacion Panamericana de la Salud | Gallestey J.B.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Vargas-Machuca R.,Equipo de Analistas | Velarde R.A.,Academia Internacional de Cibernetica Social Proporcionalista
Revista Panamericana de Salud Publica/Pan American Journal of Public Health | Year: 2017

Objectives. The objective of the study was to demonstrate the influence of several socioeconomic factors on the motor and language development of children under 5 from the baseline study conducted within the framework of the Joint Program for Children, Food Security, and Nutrition, implemented by five United Nations agencies across 65 districts in the departments of Loreto, Ayacucho, Huancavelica, and Apurímac, Peru. Methods. Dichotomous logistic regression models were used to estimate the likelihood of achievement of motor and language milestones, while polynomial regression models were used to estimate the last milestone achieved and the number of milestones achieved. The study analyzes the influence that maternal education, urban vs. rural housing, and unmet basic needs have on the difference between actual results and expected results for age was analyzed. Results. Children living in rural areas, those whose mothers had low educational attainment, and those from households with unmet basic needs exhibited poorer outcomes in the two areas of development assessed. As the number of risk factors increased, so did the developmental delay. Conclusions. Evaluation of child development and follow-up of families during the child-rearing process should be prioritized by health systems and social programs. The instruments used were sensitive to three criteria for validation.


Vilarino Corella C.M.,University of Holguín | Vazquez Mojena Y.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Ramos Lima M.,Institute Ciencias y Tecnologias Aplicadas
Revista Cubana de Higiene y Epidemiologia | Year: 2015

Introduccions: The culture of Biosafety is one of the new basic principles of Biosafety. All entities in Cuba biohazardous must design their documentation to organize this activity management on existing legal base in the country. Objects: This research characterized the culture of Biosafety biohazard facilities to design the main documents on Biosafety. Methods: A survey that collects the 12 components of safety culture with a qualitative and quantitative aspects of the state and state for culture identification is generally used. The sample consisted of the two entities of science and technological innovation health in Holguin having biological risk and sample size was calculated from a finite population with allowed maximun error equals to 1 and reliability default 95%. A great contrast and disparity of criteria in evaluating each aspect of the survey notes. At the Center and Immunology and Blood by Product, the culture as in development and Center for Research and Rehabilitation of Hereditary Ataxia was assessed as invalid. Conclusions: The diagnosis made laid the groundwork for the design of all documentation on Biosafety adjusted to the characteristics of each of the entities. © 2015, Editorial Ciencias Medicas. All rights reserved.


Hernandez-Castillo C.R.,University of Veracruz | Galvez V.,University of Veracruz | Mercadillo R.E.,Metropolitan Autonomous University | Diaz R.,National Autonomous University of Mexico | And 3 more authors.
Movement Disorders | Year: 2015

Background: Several neuropathological studies in spinocerebellar ataxia type 2 (SCA2) have revealed significant atrophy of the cerebellum, brainstem, sensorimotor cortex, and several regions in the frontal lobe. However, the impact of the neurodegeneration on the functional integration of the remaining tissue is unknown. To analyze the clinical impact of these functional changes, we correlated the abnormal functional connectivity found in SCA2 patients with their scores in clinical scales. To obtain the functional connectivity changes, we followed two approaches. In one we used areas with significant cerebellar gray matter atrophy as anchor seeds, and in the other we performed a whole-brain data-driven analysis. Methods: Fourteen genetically confirmed SCA2 patients and aged-matched healthy controls participated in the study. Voxel-based morphometry and resting-state functional magnetic resonance imaging (fMRI) were done to analyze structural and functional brain changes. Independent component analysis and dual regression were used for intrinsic network comparison. Significant functional connectivity differences were correlated with the behavioral scores. Results: Seed-based analysis found reduced functional connectivity within the cerebellum and between the cerebellum and frontal/parietal cortices. Cerebellar functional connectivity increases were found with parietal, frontal, and temporal areas. Intrinsic network analysis found a functional decrease in the cerebellar network, and increase in the default-mode and fronto-parietal networks. Further analysis showed significant correlations between clinical scores and the abnormal functional connectivity strength. Conclusion: Our findings show significant correlations between functional connectivity changes in key areas affected in SCA2 and these patients' motor and neuropsychological impairments, adding an important insight to our understanding of the pathophysiology of SCA2. © 2015 International Parkinson and Movement Disorder Society.


Velazquez-Perez L.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Garcia-Rodriguez J.C.,Centro Para La Produccion Of Animales Of Laboratorio | Sanchez-Cruz G.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Aguilera-Rodriguez R.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | And 10 more authors.
Neurochemical Research | Year: 2011

Cuban patients with Spinocerebellar Ataxia type 2 (SCA2) have reduced concentrations of zinc in serum and cerebrospinal fluid (CSF). To assess the effect and safety of zinc supplementation, 36 Cuban SCA2 patients were randomly assigned to receive daily either 50 mg ZnSO4 or placebo, together with neurorehabilitation therapy in a randomized, double-blind, placebo-controlled clinical trial during 6 months. Outcome measures included the changes of zinc levels in CSF and serum, ataxia score,oxidative stress and saccadic eye movements. At the end of the study, the Zinc-treated group showed: (i) a significant increase of the Zn levels in the CSF, (ii) mild decrease in the ataxia scale subscores for gait, posture, stance and dysdiadochocinesia (iii) reduction of lipid's oxidative damage, and (iv) reduction of saccadic latency when compared with the placebo group. The treatment was safe and well tolerated by all subjects. This study demonstrated the efficacy and safety of Zn supplementation, combined with neurorehabilitation for SCA2 patients and therefore it may encourage further studies on the clinical effect of zinc supplementation in SCA2 based in the conduction of future clinical trials with higher number of subjects. © Springer Science+Business Media, LLC 2011.


PubMed | University of Veracruz, National Autonomous University of Mexico, Metropolitan Autonomous University and Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias
Type: Journal Article | Journal: Movement disorders : official journal of the Movement Disorder Society | Year: 2015

Several neuropathological studies in spinocerebellar ataxia type 2 (SCA2) have revealed significant atrophy of the cerebellum, brainstem, sensorimotor cortex, and several regions in the frontal lobe. However, the impact of the neurodegeneration on the functional integration of the remaining tissue is unknown. To analyze the clinical impact of these functional changes, we correlated the abnormal functional connectivity found in SCA2 patients with their scores in clinical scales. To obtain the functional connectivity changes, we followed two approaches. In one we used areas with significant cerebellar gray matter atrophy as anchor seeds, and in the other we performed a whole-brain data-driven analysis.Fourteen genetically confirmed SCA2 patients and aged-matched healthy controls participated in the study. Voxel-based morphometry and resting-state functional magnetic resonance imaging (fMRI) were done to analyze structural and functional brain changes. Independent component analysis and dual regression were used for intrinsic network comparison. Significant functional connectivity differences were correlated with the behavioral scores.Seed-based analysis found reduced functional connectivity within the cerebellum and between the cerebellum and frontal/parietal cortices. Cerebellar functional connectivity increases were found with parietal, frontal, and temporal areas. Intrinsic network analysis found a functional decrease in the cerebellar network, and increase in the default-mode and fronto-parietal networks. Further analysis showed significant correlations between clinical scores and the abnormal functional connectivity strength.Our findings show significant correlations between functional connectivity changes in key areas affected in SCA2 and these patients motor and neuropsychological impairments, adding an important insight to our understanding of the pathophysiology of SCA2.


Velazquez-Perez L.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Rodriguez-Labrada R.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Canales-Ochoa N.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Sanchez-Cruz G.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | And 7 more authors.
Journal of the Neurological Sciences | Year: 2010

Nerve conduction is profoundly affected in Spinocerebellar ataxia 2 (SCA2) even before the onset of the disease, but there is no information regarding its progression to the final stage of SCA2. In order to study the progression patterns of nerve conduction abnormalities in SCA2 we performed a prospective follow up evaluation of sensory and motor conduction in 21 SCA2 mutation carriers-initially presymptomatics- and 19 non-SCA2 mutation carriers during 20 years. The earliest electrophysiological alterations were the reduction of sensory amplitudes in median and sural nerves, which could be found 8 to 5 years prior disease onset and in the last 4 years of the preclinical stage respectively. These abnormalities were followed by the increase of sensory latencies and decrease of conduction velocities. Sensory amplitudes progressively decreased during the follow-up clinical stage, rendering almost all patients with abnormal amplitudes and lack of sensory potentials, with faster progression rates in patients with larger CAG repeat lengths. Peripheral motor nerves showed the later involvement. These findings were used to define three distinct stages that describe the progression of the peripheral neuropathy. We suggest that sensory amplitudes could be useful biomarkers to assess the progression of peripheral nerve involvement and therefore to evaluate future clinical trials of therapeutic agents. © 2009 Elsevier B.V. All rights reserved.


Vaca-Palomares I.,National Autonomous University of Mexico | Diaz R.,National Autonomous University of Mexico | Rodriguez-Labrada R.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Medrano-Montero J.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | And 4 more authors.
Cerebellum | Year: 2013

There are different types of visuomotor learning. Among the most studied is motor error-based learning where the sign and magnitude of the error are used to update motor commands. However, there are other instances where individuals show visuomotor learning even if the sign ormagnitude of the error is precluded. Studies with patients suggest that the former learning is impaired after cerebellar lesions, while basal ganglia lesions disrupt the latter. Nevertheless, the cerebellar role is not restricted only to error-based learning, but it also contributes to several cognitive processes. Therefore, here, we tested if cerebellar ataxia patients are affected in two tasks, one that depends on error-based learning and the other that prevents the use of error-based learning. Our results showed that cerebellar patients have deficits in both visuomotor tasks; however, while errorbased learning tasks deficits correlated with the motor impairments, the motor error-dependent task did not correlate with any motor measure. © Springer Science+Business Media New York 2013.


Roberto R.-L.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias | Luis V.-P.,Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias
Revista Mexicana de Neurociencia | Year: 2013

Polyglutamine diseases comprise a group of neurodegenerative diseases caused by expansion of citosine-adenine-guanine (CAG) repeats in coding regions of specific genes. Among its phenotypical features, the saccadic abnormalities are very common. Saccades allow us to shift, rapidly and accurately, the attention from a target to other in the visual scene. Saccadic eye movements are generated by an extensive cortical-subcortical circuitry and they are usually used as important tools in basic and clinical researches of nervous central system. This paper presents an updated review of saccadic abnormalities in polyglutamine diseases, emphasizing in the usefulness of these features for diagnosis and disease biomarkers identifications. Saccadic abnormalities in polyglutamine diseases point out the marked vulnerability of saccadic system to CAG expansions. Its study allows us to identify useful parameters for early diagnosis and disease biomarkers for therapies evaluation. Nevertheless, other studies are mandatory to get deep into the pathophysiology of these oculomotor abnormalities.


PubMed | Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias
Type: Journal Article | Journal: Journal of the neurological sciences | Year: 2010

Nerve conduction is profoundly affected in Spinocerebellar ataxia 2 (SCA2) even before the onset of the disease, but there is no information regarding its progression to the final stage of SCA2. In order to study the progression patterns of nerve conduction abnormalities in SCA2 we performed a prospective follow up evaluation of sensory and motor conduction in 21 SCA2 mutation carriers-initially presymptomatics- and 19 non-SCA2 mutation carriers during 20years. The earliest electrophysiological alterations were the reduction of sensory amplitudes in median and sural nerves, which could be found 8 to 5years prior disease onset and in the last 4years of the preclinical stage respectively. These abnormalities were followed by the increase of sensory latencies and decrease of conduction velocities. Sensory amplitudes progressively decreased during the follow-up clinical stage, rendering almost all patients with abnormal amplitudes and lack of sensory potentials, with faster progression rates in patients with larger CAG repeat lengths. Peripheral motor nerves showed the later involvement. These findings were used to define three distinct stages that describe the progression of the peripheral neuropathy. We suggest that sensory amplitudes could be useful biomarkers to assess the progression of peripheral nerve involvement and therefore to evaluate future clinical trials of therapeutic agents.


PubMed | Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias
Type: Journal Article | Journal: Neurochemical research | Year: 2011

Cuban patients with Spinocerebellar Ataxia type 2 (SCA2) have reduced concentrations of zinc in serum and cerebrospinal fluid (CSF). To assess the effect and safety of zinc supplementation, 36 Cuban SCA2 patients were randomly assigned to receive daily either 50 mg ZnSO(4) or placebo, together with neurorehabilitation therapy in a randomized, double-blind, placebo-controlled clinical trial during 6 months. Outcome measures included the changes of zinc levels in CSF and serum, ataxia score, oxidative stress and saccadic eye movements. At the end of the study, the Zinc-treated group showed: (i) a significant increase of the Zn levels in the CSF, (ii) mild decrease in the ataxia scale subscores for gait, posture, stance and dysdiadochocinesia (iii) reduction of lipids oxidative damage, and (iv) reduction of saccadic latency when compared with the placebo group. The treatment was safe and well tolerated by all subjects. This study demonstrated the efficacy and safety of Zn supplementation, combined with neurorehabilitation for SCA2 patients and therefore it may encourage further studies on the clinical effect of zinc supplementation in SCA2 based in the conduction of future clinical trials with higher number of subjects.

Loading Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias collaborators
Loading Centro Para La Investigacion Y Rehabilitacion Of Las Ataxias Hereditarias collaborators