Masaje terapéutico para estudiantes universitarios con estrés

Introducción: El estrés psíquicoen los estudiantes universitarios de Licenciatura en Turismo puede provocar manifestaciones negativas en el orden psíquico, físico y social. Objetivo: Exponer la validez de un procedimiento de masaje terapéutico que contribuya a disminuir el estrés psíquico en los estudiantes de Licenciatura en Turismo en la Universidad de Holguín. Método: Se realizó una investigación cuantitativa, se utilizaron métodos teóricos y empíricos; para el procesamiento de los datos se utilizó la estadística matemática. Se seleccionaron 17 expertos para la valoración del procedimiento empleado, con una experiencia promedio de 17 años, la investigación fue de septiembre 2019 a julio 2022. Se seleccionó una muestra de82 estudiantes, a la cual se le aplicó un test antes y después de concluir el tratamiento con masaje terapéutico. Resultados: Mediante la observación a los estudiantes en los diferentes contextos de actuación y la revisión de las fuentes de información se evidenció resultados indicadores de estrés psíquico. En encuesta aplicada a los profesores, se demostró pocos conocimientos teóricos y metodológicos para la aplicación del masaje terapéutico para estudiantes universitarios con estrés psíquico. Conclusiones: El procedimiento elaborado para disminuir el estrés se aplicó y demuestra su efectividad en la salud y el bienestar de la muestra seleccionada.

Introduction: Psychological stress in university students studying Bachelor of Tourism can cause negative manifestations in the psychological, physical and social order. Objective: To present the validity of a therapeutic massage procedure that contributes to reducing psychological stress in Bachelor of Tourism students at the University of Holguín. Method: A quantitative research was carried out, theoretical and empirical methods were used.Mathematical statistics were used to process the data.17 experts were selected to evaluate the procedure used, with an average experience of 17 years. The research was from September 2019 to July 2022. A sample of 82 students was selected, to whom a pre-test was applied before treatment,with therapeutic massage, and a post-test at the end. Results: By observing the students in the different contexts of action and reviewing the sources of information, results indicative of psychological stress were evident.In a survey administered to teachers, little theoretical and methodological knowledge was demonstrated for the application of therapeutic massage for university students with psychological stress. Conclusions: The procedure developed to reduce stress was applied and demonstrate its effectiveness on the health and well-being of the selected sample.

Introdução: O estresse psicológico em estudantes universitários do Bacharelado em Turismo pode causar manifestações negativas de ordem psicológica, física e social. Objetivo: Apresentar a validade de um procedimento de massagem terapêutica que contribui para a redução do estresse psicológico em estudantes do Bacharelado em Turismo da Universidade de Holguín. Método: Foi realizada uma pesquisa quantitativa, foram utilizados métodos teóricos e empíricos.Estatística matemática foi usada para processar os dados.Para avaliar o procedimento utilizado foram selecionados 17 especialistas, com experiência média de 17 anos. A pesquisa ocorreu de setembro de 2019 a julho de 2022. Foi selecionada uma amostra de 82 estudantes, aos quais foi aplicado um pré-teste antes do tratamento com massagem terapêutica, e um pós-teste no final. Resultados: Ao observar os estudantes nos diferentes contextos de atuação e revisar as fontes de informação, ficaram evidentes resultados indicativos de estresse psicológico.Em pesquisa realizada com professores, foi demonstrado pouco conhecimento teórico e metodológico para a aplicação da massagem terapêutica em estudantes universitários com estresse psicológico. Conclusões: O procedimento desenvolvido para reduzir o estresse foi aplicado e demonstrou sua eficácia na saúde e no bem-estar da amostra selecionada.

Predicción de riesgo cardiovascular y periodontitis en pacientes con síndrome coronario agudo, Holguín 2020 / Cardiovascular Risk Prediction and Periodontitis in Patients with Acute Coronary Syndrome, Holguín 2020

Introducción : La predicción del riesgo cardiovascular favorece la prevención de eventos cardiovasculares. Objetivo : Estimar el riesgo cardiovascular y determinar la condición periodontal de pacientes con síndrome coronario agudo. Método : Se realizó un estudio transversal en 60 sujetos admitidos en la Unidad de Cuidados Coronarios del Hospital Provincial Vladimir Ilich Lenin, con diagnóstico de síndrome coronario agudo, que a su vez cumplieron con los criterios de inclusión. Se tuvieron en cuenta los principios de ética médica, se empleó el índice Periodontal de Russell y se determinó el riesgo cardiovascular según las Tablas de Predicción de Riesgo Cardiovascular aprobadas para Cuba. Se evaluaron las variables incluidas en dichas tablas. Resultados : El infarto agudo de miocardio se presentó en el 58,3 por ciento. El 55,0 por ciento eran del sexo masculino, 35,0 por ciento se encontraban en el grupo de edad de 55 a 64 años. En relación con la condición periodontal, el 76,7 por ciento presentó periodontitis. Según los factores de riesgo explorados la adicción tabáquica estuvo presente en el 71,7 por ciento y la hipertensión arterial en el 65,0 por ciento de los sujetos. El 25,0 por ciento de los pacientes con riesgo cardiovascular bajo presentaba periodontitis. Conclusiones : Según las tablas de predicción de riesgo cardiovascular empleadas, más de la mitad de los pacientes con síndrome coronario agudo presentaron riesgo cardiovascular bajo o moderado, sin embargo, la mayoría de estos presentaban periodontitis(AU)

Introduction : Prediction of cardiovascular risk favors prevention of cardiovascular events. Objective : To estimate cardiovascular risk and determine the periodontal condition of patients with acute coronary syndrome. Methods : A cross-sectional study was carried out with 60 subjects admitted to the coronary care unit at Hospital General Docente Vladimir Ilich Lenin, with a diagnosis of acute coronary syndrome and, in turn, meeting with the inclusion criteria. The principles of medical ethics were taken into account, the Russell's Periodontal Index was used, and cardiovascular risk was determined according to the cardiovascular risk prediction tables approved for Cuba. The variables included in these tables were evaluated. Results : Acute myocardial infarction occurred in 58.3 percent of the patients. 55.0 percent were male, and 35.0 percent were in the age group 55-64 years. Regarding their periodontal condition, 76.7 percent presented periodontitis. According to the explored risk factors, tobacco addiction was present in 71.7 percent, while arterial hypertension was present in 65.0 percent of the subjects. 25.0 percent of the patients with low cardiovascular risk had periodontitis. Conclusions : According to the used cardiovascular risk prediction tables, more than half of the patients with acute coronary syndrome presented low or moderate cardiovascular risk; however, most of these had periodontitis(AU)

COVID-19 Impacts the Mental Health and Speech Function in Spinocerebellar Ataxia Type 2: Evidences from a Follow-Up Study.

Limited evidence suggests that the SARS-CoV-2 infection can accelerate the progression of neurodegenerative diseases, but this has been not verified in the spinocerebellar ataxias (SCA). The objective of this study is to assess the impact of COVID-19 on the mental health and motor features of SCA2. A follow-up study was carried out in 170 Cuban SCA2 subjects and 87 community controls between 2020 and 2021. All subjects underwent a structured questionnaire to assess the risks of exposure to COVID-19, the confirmation of COVID-19 diagnosis, and the Hospital Anxiety and Depression Scale (HADS). Moreover, 36 subjects underwent the Scale for the Assessment and Rating of ataxia (SARA). The risk of exposure to SARS-CoV-2 and the frequency of COVID-19 were similar between the ataxia cohort and the community controls. Within the ataxia group, significantly increased HADS scores existed at the 2nd visit in both groups, but this increase was more evident for the infected group regarding the depression score. Moreover, a significant within-group increase of SARA score was observed in the infected group but not the non-infected group, which was mainly mediated by the significant increase of the speech item score in the infected group. Similar results were observed within the subgroup of preclinical carriers. Our study identified no selective vulnerability nor protection to COVID-19 in SCA2, but once infected, the patients experienced a deterioration of mental health and speech function, even at preclinical disease stage. These findings set rationales for tele-health approaches that minimize the detrimental effect of COVID-19 on SCA2 progression and identify SCA2 individuals as clinical model to elucidate the link between SARS-CoV-2 infection and neurodegeneration.

Brote dentario precoz. Un acercamiento a la realidad / Early tooth eruption. An approach to reality

Introducción: Las tendencias seglares influyen en el crecimiento y desarrollo general del individuo. El brote dentario no escapa a esta realidad. Existen variables que pueden retardarlo o acelerarlo, dentro de las que se encuentran el sexo y el color de la piel. Objetivos: Determinar la cronología y el orden de brote de los dientes permanentes en niños y adolescentes. Métodos: Se realizó un estudio transversal descriptivo desde mayo de 2017 a noviembre de 2020. El universo constituido por 21383 niños y adolescentes entre 5 y 13 años de edad, de la provincia Holguín, Cuba, que no presentaban pérdida prematura de dientes temporales o extracciones de dientes permanentes, ni enfermedades sistémicas que influyen en el crecimiento y desarrollo. En el procesamiento estadístico se utilizaron las medidas de resúmenes para las variables cuantitativas y el test de comparación de las medias. Resultados: La edad de brote de todos los dientes permanentes resultó adelantada en comparación con las tablas para su valoración clínica. El primer diente en brotar fue el primer molar superior, entre los 5,66 años, y el último el segundo molar maxilar, entre los 10,38 años. Al comparar las medias de brote de los dientes permanentes según el sexo, hubo diferencias altamente significativas en la arcada superior: primer premolar (p = 0,000), arcada inferior: canino (p = 0,009), primer premolar (p = 0,000) y segundo molar (p = 0,012). Se encontraron diferencias altamente significativas entre las medias de brote para el color de la piel en el maxilar: incisivo central (p = 0,004), incisivo lateral (p = 0,000), canino (p = 0,002), mandíbula: incisivo central (p = 0,000), incisivo lateral (p = 0,000) y segundo premolar (p = 0,000). Conclusiones: La cronología de brote de todos los dientes permanentes resultó adelantada. Los dientes permanentes siguieron la secuencia de brote, tal como describe Mayoral. Se encontraron diferencias al comparar las medias de brote según el sexo y color de la piel(AU)

Introduction: Secular tendencies influence the overall growth and development of the individual. Tooth eruption does not escape this reality. There are variables that can delay or accelerate it, among which are sex and skin color. Objectives: To determine the chronology and order of eruption of permanent teeth in children and adolescents. Methods: A descriptive cross-sectional study was conducted from May 2017 to November 2020. The universe constituted by 21383 children and adolescents between 5 and 13 years of age, from Holguín province, Cuba, who did not present premature loss of primary teeth or extractions of permanent teeth, nor systemic diseases that influence growth and development. Statistical processing used summary measures for quantitative variables and the comparison test of the average values. Results: The age of teething of all permanent teeth was advanced in comparison with the tables for clinical assessment. The first tooth was the upper first molar at 5.66 years of age and the last tooth was the maxillary second molar at 10.38 years of age. When comparing the teething averages of the permanent teeth according to gender, there were highly significant differences in the upper arch: first premolar (p = 0.000), lower arch: canine (p = 0.009), first premolar (p = 0.000) and second molar (p = 0.012). Highly significant differences were found between bud means for skin color in maxilla: central incisor (p = 0.004), lateral incisor (p = 0.000), canine (p = 0.002), mandible: central incisor (p = 0.000), lateral incisor (p = 0.000) and second premolar (p = 0.000). Conclusions: The teething chronology of all permanent teeth resulted advanced. The permanent teeth followed the teething sequence as described by Mayoral. Differences were found when comparing the teething averages according to gender and skin color(AU)

Bibliometría y mapeo de redes de la producción científica internacional de Cuba sobre ataxias (1993-2020) / Bibliometrics and network mapping of Cuban international scientific production on ataxias (1993-2020)

El objetivo del estudio fue caracterizar el potencial investigador cubano en el ámbito de las ataxias y su evolución temporal. Se realizó una búsqueda en la base de datos Web of Science y se obtuvieron todos los documentos publicados entre 1993 y 2020. Se aplicaron indicadores bibliométricos para explorar la producción, dispersión, distribución y crecimiento anual de los documentos (ley de Price, ley de Lotka, índice de transitoriedad y modelo de Bradford). Se calculó el índice de participación y colaboración de países e instituciones y, por cartografía bibliométrica, se exploraron las redes de coocurrencia de los términos más utilizados. La producción científica de Cuba sobre ataxias hereditarias es alta (219 documentos) y se ajusta a un crecimiento lineal (r= 0,7580). El período estudiado concentra el 47,95 por ciento de los registros con un ritmo anual de publicaciones del 6,6 por ciento y tiempo de duplicidad de 10,8 años. El total de citas fue de 3807 (índice medio: 131,27; índice -h: 31). Se concluye que el crecimiento de la literatura científica cubana sobre ataxias fue lineal para el período estudiado, lo que confirma el incumplimiento de la ley de Price de crecimiento de la literatura científica. El estudio también corrobora la importante red de integración y cooperación internacional entre los diferentes autores y la interdisciplinariedad de los trabajos, evidencia del éxito del Centro para la Investigación y Rehabilitación de las Ataxias Hereditarias (CIRAH), al planificar una estrategia de colaboración científica con objetivos definidos(AU)

The objective of this study was to characterize the Cuban research potential in the field of ataxias and its temporal evolution. A search was carried out in the Web of Science database and all the documents published from 1993 to 2020 were retrieved. Bibliometric indicators were applied to explore the production, dispersion, distribution and annual growth of the documents (Price's law, Lotka's law, transience index and Bradford model). The participation and collaboration index of countries and institutions was calculated and, through bibliometric cartography, the co-occurrence networks of the most used terms were explored. The Cuban scientific production on hereditary ataxias is high (219 documents) and it adjusts to a linear growth (r = 0.7580). The period studied concentrates 47.95percent of the records with an annual publication rate of 6.6percent and 10.8 years' duplication time. The total number of citations was 3807 (mean index: 131.27; h-index: 31). Growth of the Cuban scientific literature on ataxias was concluded to be linear for the period studied, which confirms the non-compliance with Price's law of growth of scientific literature. The study also corroborates the important network of integration and international cooperation among the different authors and the interdisciplinarity of the papers, marking the success of the Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH), when planning a strategy of scientific collaboration with objectives defined(AU)

Análisis biocinemático de la marcha en pacientes con hemiplejia / Análise biocinética da marcha em pacientes com hemiplegia / Biokinematic analysis of gait in patients with hemiplegia

RESUMEN Introducción: Se realizó un análisis biocinemático de la marcha en pacientes con hemiplejia, que es la parálisis de un hemicuerpo, reconocida en el contexto de las ciencias médicas y de la cultura física terapéutica como síndrome hemipléjico. Objetivo: Consistió en determinar las modificaciones biocinemáticas que se manifiestan en la marcha de los pacientes con hemiplejia del área de salud "Pedro Díaz Coello" de Holguín. Materiales y métodos: La muestra estuvo constituida por cinco pacientes que recibieron atención sistemática en la sala de rehabilitación del área de salud del policlínico" Pedro Díaz Coello" del municipio de Holguín. Las entrevistas realizadas a personal médico y de rehabilitación física que trabaja en el área de salud, a investigadores de la Facultad de Cultura Física y Deportes de la Universidad de Holguín, la revisión de documentos normativos sobre el trabajo multidisciplinar y la observación a sesiones de rehabilitación, evidenciaron la necesidad de abordar el tema desde la biomecánica, dada la limitada cuantificación de sus indicadores. Con el objetivo de analizar del comportamiento de los indicadores biocinemáticos de la marcha patológica, se usó la técnica videográfica. Con el software Kinovea, en la versión 0.8.27, se cuantificaron los indicadores controlados. Resultados: Permitió, unido al estudio cualitativo para cada paciente, realizar una comparación de las características de su marcha con el patrón normal y elaborar un grupo de recomendaciones a considerar durante el proceso de rehabilitación física. Conclusiones: Se pudo analizar elcomportamiento de los indicadores biocinem áticos de la marcha hemipléjica en los pacientes estudiados, su comparación con la marcha normal, así como un conjunto de recomendaciones a tener en cuenta en el proceso de rehabilitación

RESUMO Introdução: Foi realizada uma análise biocinética da marcha em pacientes com hemiplegia, que é a paralisia de um hemibody, reconhecida no contexto das ciências médicas e da cultura física terapêutica como síndrome hemiplégica. Objetivo: O objetivo era determinar as modificações biocinéticas que se manifestam na marcha de pacientes com hemiplegia na área de saúde "Pedro Díaz Coello" de Holguín. Materiais e métodos: A amostra consistiu de cinco pacientes que receberam cuidados sistemáticos na sala de reabilitação da área de saúde da policlínica "Pedro Díaz Coello", no município de Holguín. As entrevistas com o pessoal médico e de reabilitação física que trabalha na área da saúde, com pesquisadores da Faculdade de Cultura Física e Esporte da Universidade de Holguín, a revisão de documentos normativos sobre trabalho multidisciplinar e a observação de sessões de reabilitação, mostraram a necessidade de abordar o tema do ponto de vista biomecânico, dada a quantificação limitada de seus indicadores. A fim de analisar o comportamento dos indicadores biocinéticos da marcha patológica, foi utilizada a técnica videográfica. Com o software Kinovea, versão 0.8.27, os indicadores controlados foram quantificados. Resultados: Permitiu, juntamente com o estudo qualitativo para cada paciente, fazer uma comparação das características de sua marcha com o padrão normal e elaborar um grupo de recomendações a serem consideradas durante o processo de reabilitação física. Conclusões: Foi possível analisar o comportamento dos indicadores biocinéticos da marcha hemiplégica nos pacientes estudados, sua comparação com a marcha normal, assim como um conjunto de recomendações a serem levadas em conta no processo de reabilitação.

ABSTRACT Introduction: A biokinematic analysis of gait was performed in patients with hemiplegia, which is the paralysis of one side of the body, recognized in the context of medical sciences and therapeutic physical culture as hemiplegic syndrome. Objective: It consisted of determining the biokinematic modifications that are manifested in the gait of patients with hemiplegia in the "Pedro Díaz Coello" health area of Holguín. Materials and methods: The sample consisted of five patients who received systematic care in the rehabilitation room of the health area of the " Pedro Díaz Coello" polyclinic in the municipality of Holguín. The interviews conducted with medical and physical rehabilitation personnel who work in the health area, with researchers from the Faculty of Physical Culture and Sports of the University of Holguín, the review of normative documents on multidisciplinary work and the observation of rehabilitation sessions, showed the need to address the issue from biomechanics, given the limited quantification of its indicators. In order to analyze the behavior of biokinematic indicators of pathological gait, the videographic technique was used. With the Kinovea software, in version 0.8.27, the controlled indicators were quantified. Results: Together with the qualitative study for each patient, it allowed a comparison of the characteristics of their gait with the normal pattern and the elaboration of a group of recommendations to be considered during the physical rehabilitation process. Conclusions: It was possible to analyze the behavior of the biokinematic indicators of hemiplegic gait in the patients studied, their comparison with normal gait, as well as a set of recommendations to be taken into account in the rehabilitation process

Erythropoietin in Spinocerebellar Ataxia Type 2: Feasibility and Proof-of-Principle Issues from a Randomized Controlled Study.

BACKGROUND: Several pieces of evidence have shown the neurotrophic effect of erythropoietin (EPO) and its introduction in the therapeutic practice of neurological diseases. However, its usefulness in the treatment of spinocerebellar ataxia type 2 (SCA2) has not been proven despite the fact that it is endogenously reduced in these patients. OBJECTIVE: The study aims to investigate the safety, tolerability, and clinical effects of a nasally administered recombinant EPO in SCA2 patients. METHODS: Thirty-four patients were enrolled in this double-blind, randomized, placebo-controlled, phase I-II clinical trial of the nasally administered human-recombinant EPO (NeuroEPO) for 6 months. The primary outcome was the change in the spinocerebellar ataxia functional index (SCAFI), while other motor, neuropsychological, and oculomotor measures were assessed. RESULTS: The 6-month changes in SCAFI score were slightly higher in the patients allocated to NeuroEPO treatment than placebo in spite of the important placebo effect observed for this parameter. However, saccade latency was significantly decreased in the NeuroEPO group but not in placebo. The frequency and severity of adverse events were similar between both groups, without evidences of hematopoietic activity of the drug. CONCLUSIONS: This study demonstrated the safety and tolerability of NeuroEPO in SCA2 patients after 6 months of treatments and suggested a small clinical effect of this drug on motor and cognitive abnormalities, but confirmatory studies are warranted. © 2022 International Parkinson and Movement Disorder Society.

Weight loss is correlated with disease severity in Spinocerebellar ataxia type 2: a cross-sectional cohort study.

BACKGROUND: Body weight changes occur frequently during advanced stages of Spinocerebellar Ataxia type 2 (SCA2), nevertheless limited information exists on biomarkers of nutritional status of these patients. OBJECTIVE.: To assess changes in surrogate nutritional markers of SCA2 patients; to explore their associations with expanded CAG repeats and disease severity. METHODS: One-hundred-thirteen SCA2 patients and 50 healthy controls underwent a comprehensive anthropometrical and biochemical assessment protocol of the nutritional status. Neurological and genotype assessments were also performed. RESULTS: A decrease in weight, body mass index (BMI), cutaneous skinfold thickness, fat mass, arm muscle circumference, calf circumference and skeletal muscle mass was observed in SCA2 patients compared to the controls. The total/HDL cholesterol ratio was significantly reduced in patients. BMI was correlated with the age at onset. Overall, anthropometric measures were correlated with clinical markers of disease severity and were more evident in severe and moderate cases. CONCLUSIONS: Using anthropometric measures in the assessment of the nutritional status of SCA2 patients might provide hints about pathophysiological mechanisms that underlie metabolic abnormalities in SCA2. Anthropometric are close related with disease severity and progression, and trigger preventive therapies aimed to ameliorate weight loss and wasting in these patients.

Impacts of the COVID-19 Pandemic on the Mental Health and Motor Deficits in Cuban Patients with Cerebellar Ataxias.

Although there are no convincing evidences of detrimental effect of SARS-CoV2 infection on the cerebellum, the COVID-19 pandemic could impact the life quality of patients with cerebellar ataxias, but few studies have addressed this concern. To assess the motor and mental health changes caused by the COVID-19 pandemics in Cuban patients with cerebellar ataxias, three hundred four patients with cerebellar ataxias and 167 healthy controls were interviewed for risks of exposure to COVID-19, and the self-perception of the pandemics' impact on the disease progression and on the mental health. All subjects underwent the Hospital Anxiety and Depression Scale. The patients reported low exposition to SARS-CoV2 infection, but one case was confirmed with a mild COVID-19. Overall, depressive and anxiety symptoms were significantly and marginally increased in patients, respectively, with higher scores in cases with severe and moderate ataxia. Positive patient's impression of psychopathological changes was associated to increased age, age at onset, and anxiety. Sixty-seven patients had a positive self-perception of ataxia progression, which was mainly influenced by higher anxiety scores but not by the adherence to at-home exercise programs. However, the practice of physical exercise was related with lower depression and anxiety scores, but this therapeutical effect was not significantly influenced by the disease stage. We demonstrated the negative effect of the COVID-19 pandemic on the mental and motor deficits in Cuban patients with cerebellar ataxias and the positive effect of the at-home physical exercise programs on their mental well-being. These findings give rationales to develop tele-medicine approaches to minimize these health impacts and to study the long-term effects of such sequelae and accordingly define their treatments.

Prodromal Spinocerebellar Ataxia Type 2 Subjects Have Quantifiable Gait and Postural Sway Deficits.

BACKGROUND: The search for valid preclinical biomarkers of cerebellar dysfunction is a key research goal for the upcoming era of early interventional approaches in spinocerebellar ataxias. This study aims to describe novel preclinical biomarkers of subtle gait and postural sway abnormalities in prodromal spinocerebellar ataxia type 2 (pre-SCA2). METHODS: Thirty pre-SCA2 patients and their matched healthy controls underwent quantitative assessments of gait and postural sway using a wearable sensor-based system and semiquantitative evaluation of cerebellar features by SARA (Scale for the Assessment and Rating of Ataxia) score. RESULTS: Quantitative analysis of natural gait showed a significantly larger variability of the swing period, toe-off angle and toe-out angle in pre-SCA2, and larger mean coronal and transverse ranges of motion of the trunk at the lumbar location and of the sagittal range of motion of the trunk at the sternum location compared to controls. During tandem gait, pre-SCA2 subjects showed larger lumbar, trunk, and arm ranges of motion than controls. Postural sway analysis showed excessive body oscillation that was increased in tandem stance. Overall, these abnormalities were detected in pre-SCA2 patients without clinical evidence of abnormalities in SARA. The toe-off angle and swing time variability were significantly correlated with the time to ataxia onset, whereas the toe-off angle and transverse range of motion at trunk position during tandem gait were significantly associated with the SARA score. CONCLUSIONS: This study demonstrates early alteration of gait and postural sway control in prodromal SCA2 using a wearable sensor-based system. This offers new pathophysiological hints into this early disease stage and provides novel potential biomarkers for future clinical trials. © 2020 International Parkinson and Movement Disorder Society.

Features of speech and swallowing dysfunction in pre-ataxic spinocerebellar ataxia type 2.

OBJECTIVE: To determine whether objective and quantitative assessment of dysarthria and dysphagia in spinocerebellar ataxia type 2 (SCA2), specifically at pre-ataxic and early disease phases, can act as sensitive disease markers. METHODS: Forty-six individuals (16 with pre-ataxic SCA2, 14 with early-stage ataxic SCA2, and 16 healthy controls) were recruited in Holguin, Cuba. All participants underwent a comprehensive battery of assessments including objective acoustic analysis, clinician-derived ratings of speech function and swallowing, and quality of life assessments of swallowing. RESULTS: Reduced speech agility manifest at the pre-ataxic stage was observed during diadochokinetic tasks, with the magnitude of speech deficit augmented in the early ataxic stage. Speech rate was slower in early-stage ataxic SCA2 compared with pre-ataxic SCA2 and healthy controls. Reduced speech agility and speech rate correlated with disease severity and time to ataxia onset, verifying that speech deficits occur prior to ataxia onset and increase in severity as the disease progresses. Whereas dysphagia was observed in both pre-ataxic and ataxic SCA2, it was not associated with swallowing-related quality of life, disease severity, or time to ataxia onset. CONCLUSIONS: Speech and swallowing deficits appear sensitive to disease progression in early-stage SCA2, with syllabic rate a viable marker. Findings provide insight into mechanisms of disease progression in early-stage SCA2, signaling an opportunity for stratifying early-stage SCA2 and identifying salient markers of disease onset as well as outcome measures in future early-stage therapeutic studies.

Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.

Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant disorders. The relative frequency of the different SCA subtypes varies broadly among different geographical and ethnic groups as result of genetic drifts. This review aims to provide an update regarding SCA founders in the American continents and the Caribbean as well as to discuss characteristics of these populations. Clusters of SCAs were detected in Eastern regions of Cuba for SCA2, in South Brazil for SCA3/MJD, and in Southeast regions of Mexico for SCA7. Prevalence rates were obtained and reached 154 (municipality of Báguano, Cuba), 166 (General Câmara, Brazil), and 423 (Tlaltetela, Mexico) patients/100,000 for SCA2, SCA3/MJD, and SCA7, respectively. In contrast, the scattered families with spinocerebellar ataxia type 10 (SCA10) reported all over North and South Americas have been associated to a common Native American ancestry that may have risen in East Asia and migrated to Americas 10,000 to 20,000 years ago. The comprehensive review showed that for each of these SCAs corresponded at least the development of one study group with a large production of scientific evidence often generalizable to all carriers of these conditions. Clusters of SCA populations in the American continents and the Caribbean provide unusual opportunity to gain insights into clinical and genetic characteristics of these disorders. Furthermore, the presence of large populations of patients living close to study centers can favor the development of meaningful clinical trials, which will impact on therapies and on quality of life of SCA carriers worldwide.

Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients.

The prevalence estimations of hereditary ataxias are biased since most epidemiological studies are confined to isolated geographical regions and few nationwide studies are available. The study aims to assess the prevalence, distribution, and neurological features of the Cuban population with hereditary ataxias. A nationwide epidemiological study of hereditary ataxias was conducted in Cuba between March 2017 and June 2018. Patients were scheduled at the Cuban ataxia research center, various hospitals, or at their homes. Demographic and clinical variables were obtained through standardized questionnaires and validated clinical tools. Overall, 1001 patients were diagnosed with hereditary ataxias for a nationwide prevalence of 8.91 cases/100.000 inhabitants. Spinocerebellar ataxia type 2 (SCA2) was the commonest subtype, with highest prevalences at Holguín province (47.86/100.000), and a broad dissemination in the whole country. Most of neurological features were common between all SCA cohorts, but the frequencies of some of them varied between distinct subtypes. Within the SCA2 cohort, significant influences of long mutation size and higher disease duration over the muscle atrophy and oculomotor disorders were observed. Besides, higher disease durations were associated with resting tremor and dysphagia, whereas shorter disease durations were associated with hyperreflexia. The spreading of SCA2 to whole country and the documented raising of its prevalence set the rationales for higher-scope medical care and research strategies, supported in collaborative research networks. The wide epidemiological, clinical, and genetic characterization of this founder SCA2 population identifies this homogeneous cohort as an attractive source for the development of future clinical-genetic and therapeutic researches.

Sleep spindles and K-complex activities are decreased in spinocerebellar ataxia type 2: relationship to memory and motor performances.

BACKGROUND: Sleep spindles and K-complexes are electroencephalographic hallmarks of non-rapid eye movement (non-REM) sleep that provide valuable information into brain functioning, plasticity and sleep functions in normal and pathological conditions. However, they have not been systematically investigated in spinocerebellar ataxias (SCA). To close this gap, the current study was carried out to quantify sleep spindles and K-complexes in SCA2 and to assess their relationship with clinical and molecular measures, as well as with memory and attention/executive functioning. METHODS: In this study, 20 SCA2 patients, 20 preclinical carriers and 20 healthy controls underwent whole-night polysomnographic (PSG) recordings as well as sleep interviews, ataxia scoring and neuropsychological assessments. Sleep spindles and K-complexes were automatically detected during non-REM sleep stage 2 (N2). Their densities were evaluated as events/minute. RESULTS: Compared to controls, sleep spindle density was significantly reduced in SCA2 patients and preclinical subjects. By contrast, K-complex density was specifically and significantly decreased only in SCA2 patients. Reduced spindle activity correlated with measures of verbal memory, whereas reduced K-complex activity correlated with age, ataxia severity and N3 sleep percentage in SCA2 patients. CONCLUSIONS: Findings document an impairment of N2 sleep microstructure in SCA2 already in prodromal stages, suggesting an early involvement of thalamo-cortical and/or cortical circuits underlying the generation of sleep spindles and K-complexes. Thus, sleep spindle density may serve as useful biomarker for deficits of neural plasticity mechanisms underlying verbal memory alterations in patients. It may also serve as promising outcome measure in further therapeutical trials targeting memory decline in SCA2. With regard to K-complexes, they have potential usefulness as marker of sleep protection.

Neurorehabilitation Improves the Motor Features in Prodromal SCA2: A Randomized, Controlled Trial.

BACKGROUND: The search for early interventions is a novel approach in spinocerebellar ataxias, but there are few studies supporting this notion. This article aimed to assess the efficacy of neurorehabilitation treatment in prodromal spinocerebellar ataxia type 2. METHODS: Thirty spinocerebellar ataxia type 2 preclinical carriers were enrolled in a randomized, controlled trial using neurorehabilitation. The intervention in the treated group was 4 hours per day, 5 days per week for 12 weeks, emphasizing static balance, gait, and limb coordination. The control group did not receive rehabilitation. The primary outcome measure was the time for 5-m tandem gait over the floor. Secondary outcomes included other timed tests with increased motor complexity, as well as the scores of the SARA and the Inventory of Non-ataxia Symptoms. RESULTS: The times for 5-m tandem gait over the floor and the mattress were significantly reduced only in the rehabilitated group. Moreover, the times upholding the tandem stance over a mattress and the seesaw were notably increased only in this group. Likewise, the finger-nose and the heel-shin tests were improved in the rehabilitated group alone. The SARA score and the count of nonataxia symptoms were unchanged. CONCLUSIONS: This rehabilitation program improves the subtle gait, postural and coordinative deficits in prodromal spinocerebellar ataxia type 2, which provided novel hints about the preservation of motor learning and neural plasticity mechanisms in early disease stages, leading chances for other interventional approaches in this and other spinocerebellar ataxias. © 2019 International Parkinson and Movement Disorder Society.

Insights into cognitive decline in spinocerebellar Ataxia type 2: a P300 event-related brain potential study.

BACKGROUND: Cognitive decline is a common non-motor feature characterizing Spinocerebellar Ataxia type 2 (SCA2) during the prodromal stage, nevertheless a reduced number of surrogate biomarkers of these alterations have been described. OBJECTIVE: To provide insights into cognitive dysfunction in SCA2 patients using P300 event-related potentials (ERP) and to evaluate these measures as biomarkers of the disease. METHODS: A cross-sectional study was performed with 30 SCA2 patients, 20 preclinical carriers and 33 healthy controls, who underwent visual, auditory P300 ERPs, and neurological examinations and ataxia scoring. RESULTS: SCA2 patients showed significant increase in P300 latencies and decrease of P300 amplitudes for visual and auditory stimuli, whereas preclinical carriers exhibit a less severe, but significant prolongation of P300 latencies. Multiple regression analyses disclosed a significant effect of SARA score on visual P300 abnormalities in patients as well as of the time to ataxia onset on visual P300 latencies in preclinical carriers. CONCLUSIONS: This paper demonstrated the role of P300 ERP for the study of attentional, discriminative and working memory abnormalities in SCA2 patients and for the search of surrogate biomarkers from prodromal to the symptomatic stages. Moreover, our findings provide psychophysiological evidences supporting the cerebellar involvement in cognitive processes and allows us to identify promising outcome measures for future trials focusing on cognitive dysfunction.

Hereditary Ataxias in Cuba: Results and Impact of a Comprehensive, Multidisciplinary Project.

Spinocerebellar ataxia type 2 is a degenerative disease that causes physical disability and, ultimately, prostration and death. Globally, reported prevalence is around 3 cases per 100,000 population and Cuba has the world's highest rates of the disease, affecting both patients and their at-risk descendants. In Holguín Province, which has the country's highest concentration of cases, incidence is 4.4 per 100,000 population and prevalence is 40.2 per 100,000 population. In 2000, a specialized research center was established in that province. Supplied with the necessary equipment and human resources, the center conducted national multidisciplinary studies involving molecular biology, clinical care, epidemiology, psychology, clinical neurophysiology, imaging, clinical genetics and community medicine, among others. A training and continuing education program also raised scientific capacity. Priority was given to developing international collaborations for academic exchange and training of Cuban researchers.Multiple results from research involving clinical and epidemiologic characterization of the disease, identification of biomarkers and therapeutic targets, genetic association studies, clinical trials and characterization of the disease's preclinical stages have been introduced in care of patients and their at-risk descendants. This has been accomplished through various programs including personalized rehabilitation, predictive diagnosis and social services. These results have also been published in high-impact scientific journals and received national and international awards. Such an experience in the context of Cuba's national health system-which is universal, free, accessible, comprehensive, prevention-oriented and with a record of international cooperation-demonstrates the possibility of providing quality care to affected families. Incorporating research findings into medical practice, with the resulting impact on patients' health and wellbeing, is a practical example of translational medicine in Cuba. KEYWORDS Spinocerebellar ataxia type 2, health services research, biomedical research. health care delivery, translational medicine, translational research, health equity, Cuba.

Neurorehabilitation therapy in spinocerebellar ataxia type 2: A 24-week, rater-blinded, randomized, controlled trial.

BACKGROUND: Neurorehabilitation has become in a widely used approach in spinocerebellar ataxias, but there are scarce powerful clinical studies supporting this notion. OBJECTIVE: The objective of this study was to assess the efficacy of a 24-week neurorehabilitative treatment in spinocerebellar ataxia type 2 patients. METHODS: A total of 38 spinocerebellar ataxia type 2 patients were enrolled in a rater-blinded, 1:1 randomized, controlled trial using neurorehabilitation for 24 weeks. The treated group received 6 hours of neurorehabilitation therapy, emphasizing on balance, coordination, and muscle strengthening on weekdays, whereas the control group did not receive this intervention. Primary outcome measure was the Scale for the Assessment and Rating of Ataxia score, whereas secondary outcome measures included the count of Inventory of Non-Ataxia Symptoms and saccadic eye movement variables. RESULTS: The rehabilitated group had high levels of adherence and retention to the therapy and showed a significant decrease of Scale for the Assessment and Rating of Ataxia score at 24 weeks when compared with the controls, mainly for the gait, stance, sitting, finger chase, and heel-shin test items. Changes in Scale for the Assessment and Rating of Ataxia scores were inversely correlated with the mutation size in the rehabilitated group. The nonataxia symptom count and saccadic measures were unchanged during the study. CONCLUSIONS: A comprehensive 24-week rehabilitation program significantly improves the motor cerebellar symptoms of spinocerebellar ataxia type 2 patients as assessed by the ataxia rating score likely as result of the partial preservation of motor learning and neural plasticity mechanisms. These findings provide evidence in support of this therapeutic approach as palliative treatment in spinocerebellar ataxia type 2 suggesting its use in combination with other symptomatic or neuroprotective drugs and in prodromal stages. © 2018 International Parkinson and Movement Disorder Society.

Progression of corticospinal tract dysfunction in pre-ataxic spinocerebellar ataxia type 2: A two-years follow-up TMS study.

OBJECTIVE: Corticospinal tract (CST) dysfunction is common in the pre-ataxic stage of spinocerebellar ataxia type 2 (SCA2) but quantitative assessment of its progression over time has not been explored. The aim of this study was to quantify the progression of CST dysfunction in pre-ataxic SCA2 using transcranial magnetic stimulation (TMS). METHODS: Thirty-three pre-ataxic SCA2 mutation carriers and a 33 age- and gender-matched healthy controls were tested at baseline and 2-years follow-up by standardized clinical exams, validated clinical scales, and TMS. RESULTS: Pre-ataxic SCA2 mutation carriers showed a significant increase of resting motor thresholds (RMT) to abductor pollicis brevis (APB) and tibialis anterior (TA) muscles, and of central motor conduction time (CMCT) to TA at 2-years follow-up, over and above changes in healthy controls. The changes in the pre-ataxic SCA2 mutation carriers were independent of the presence of clinical signs of CST dysfunction at baseline, and independent of conversion to clinically definite SCA2 at 2-years follow-up. CONCLUSIONS: TMS markers of CST dysfunction progress significantly during the pre-ataxic stage of SCA2. SIGNIFICANCE: TMS measures of CST dysfunction may provide biomarkers of disease progression prior to clinical disease expression that have potential utility for monitoring neuroprotective therapies in future clinical trials.

Heritability of saccadic eye movements in spinocerebellar ataxia type 2: insights into an endophenotype marker.

BACKGROUND: Saccade slowing has been proposed as endophenotype marker in Spinocerebellar Ataxia type 2 (SCA2), nevertheless the heritability of this trait has not been properly demonstrated. Thus the present paper was aimed to assess the heritability of different saccadic parameters in SCA2. METHODS: Forty-eight SCA2 patients, 25 preclinical carriers and 24 non-SCA2 mutation carriers underwent electronystagmographical assessments of saccadic eye movements as well as neurological examination and ataxia scoring. Estimates of heritability based on the intraclass correlation coefficients were calculated for saccade velocity, accuracy and latency as well as for age at disease onset from 36, 17 and 15 sibling pairs of SCA2 patients, preclinical carriers and controls, respectively. RESULTS: Saccade velocity was significantly reduced in SCA2 patients and preclinical carriers, whereas decreased saccade accuracy and increased saccade latency were only observed in the patients cohort. Intraclass correlation coefficient for saccade velocity was highly significant in SCA2 patients, estimating a heritability around 94%, whereas for the age at ataxia onset this estimate was around 68%. CONCLUSIONS: Electronystagmographical measure of saccade velocity showed higher familial aggregation between SCA2 patients leading the suitability of this disease feature as endophenotype marker, with potential usefulness for the search of modifier genes and neurobiological underpinnings of the disease and as outcome measure in future neuroprotective clinical trials.