RESUMO
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)
Assuntos
Humanos , Masculino , Feminino , Ataxia/epidemiologia , Degenerações Espinocerebelares/congênito , Bibliometria , Redes de Informação de Ciência e Tecnologia , Indicadores de Produção Científica , CubaRESUMO
Introducción: Las ataxias (AT) y paraparesias espásticas hereditarias (PEH) son síndromes neu-rodegenerativos raros. Nos proponemos conocer la prevalencia de las AT y PEH en Espana en2019.Pacientes y métodos: Estudio transversal, multicéntrico, descriptivo y retrospectivo de lospacientes con AT y PEH, desde marzo de 2018 a diciembre de 2019 en toda Espana.Resultados: Se obtuvo información de 1933 pacientes procedentes de 11 Comunidades Autóno-mas, de 47 neurólogos o genetistas. Edad media: 53,64 anos ± 20,51 desviación estándar (DE);938 varones (48,5%), 995 mujeres (51,5%). En 920 pacientes (47,6%) no se conoce el defectogenético. Por patologías, 1.371 pacientes (70,9%) diagnosticados de AT, 562 diagnosticados dePEH (29,1%). La prevalencia estimada de AT es 5,48/100.000 habitantes, y la de PEH es 2,24casos/100.000 habitantes. La AT dominante más frecuente es la SCA3. La AT recesiva más fre-cuente es la ataxia de Friedreich (FRDA). La PEH dominante más frecuente es la SPG4, y la PEHrecesiva más frecuente es la SPG7.Conclusiones: La prevalencia estimada de AT y PEH en nuestra serie es de 7,73 casos/100.000habitantes. Estas frecuencias son similares a las del resto del mundo. En el 47,6% no se haconseguido un diagnóstico genético. A pesar de las limitaciones, este estudio puede contribuira estimar los recursos, visibilizar estas enfermedades, detectar las mutaciones más frecuentespara hacer los screenings por comunidades, y favorecer los ensayos clínicos.(AU)
Introduction: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes.We aimed to determine the prevalence of these disorders in Spain in 2019.Patients and methods: We conducted a cross-sectional, multicentre, retrospective, descrip-tive study of patients with ataxia and hereditary spastic paraplegia in Spain between March2018 and December 2019. Results: We gathered data from a total of 1933 patients from 11 autonomous communities,provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51)years; 938 patients were men (48.5%) and 995 were women (51.5%). The genetic defect wasunidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%)had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegiawere estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequenttype of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia wasFriedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in oursample was SPG4, and the most frequent recessive type was SPG7.Conclusions: In our sample, the estimated prevalence of ataxia and hereditary spastic para-plegia was 7.73 cases per 100 000 population. This rate is similar to those reported for othercountries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, ourstudy provides useful data for estimating the necessary healthcare resources for these patients,raising awareness of these diseases, determining the most frequent causal mutations for localscreening programmes, and promoting the development of clinical trials.(AU)
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Ataxia , Paraparesia Espástica , Ataxia/epidemiologia , Paraparesia Espástica/epidemiologia , Doenças Raras , Espanha , Neurologia , Doenças do Sistema Nervoso , Prevalência , Estudos Transversais , Epidemiologia Descritiva , Estudos RetrospectivosRESUMO
Background: Ataxia can be classified as genetic, sporadic or acquired. Aim: To report the clinical features of a group of patients with ataxia. Material and Methods: Review of medical records of patients consulting in a specialized center in movement disorders. Those records in which the diagnosis of "ataxia" or "ataxic syndrome" appeared, were selected for the review. Results: Of 4,282 records surveyed, the diagnosis of ataxia appeared in 95. After eliminating repeated or incomplete records, 63 were reviewed. Results: Ataxia was sporadic, genetic and acquired in 27, 22 and 14 patients, respectively. The mean age at presentation for genetic, acquired and sporadic ataxia was 24, 46 and 53 years respectively. All autosomal dominant ataxias were type 3 spinocerebellar ataxia (SCA). Friedrich's ataxia was the most common recessive form. Most sporadic forms of ataxia were multiple system atrophy with predominant cerebellar ataxia (MSA-C) subtype. Conclusions: Considering the heterogeneity of patients with ataxia, we propose a method to approach them.
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Adulto Jovem , Ataxia/etiologia , Ataxia/epidemiologia , Ataxia/patologia , Chile/epidemiologia , Fatores Sexuais , Prontuários Médicos , Estudos Retrospectivos , Análise de Variância , Fatores Etários , Distribuição por Sexo , Distribuição por IdadeRESUMO
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Assuntos
Humanos , Masculino , Feminino , Terminologia como Assunto , Current Procedural Terminology , Ataxia/epidemiologia , Tradução , Fonoaudiologia/organização & administração , Fonoaudiologia/normasRESUMO
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Assuntos
Humanos , Masculino , Feminino , Criança , Ataxia/epidemiologia , Tratamento de Emergência/métodos , Ataxia/etiologia , Serviços Médicos de Emergência/estatística & dados numéricos , Protocolos Clínicos , Serviços de Saúde da Criança/métodosRESUMO
Introducción: Los factores de riesgo vascular (FRV) se han relacionado con déficit cognitivos e incremento del riesgo de demencia. De hecho, el deterioro cognitivo es considerado como una de las primeras manifestaciones de enfermedad cerebrovascular. En nuestro país se ha registrado una elevada prevalencia de FRV junto a una incidencia de ictus de las más bajas de Europa. Éste es el primer estudio con población española que investiga la relación entre los FRV y el rendimiento cognitivo en la edad adulta. Métodos: Se ha realizado evaluación neuropsicológica a 90 personas de 50-65 años de edad con riesgo cardiovascular bajo, leve y moderado, sin historia de enfermedad cardiovascular. Se les administró una batería de test sensible a funciones ejecutivas, atencionales, mnésicas, visuoconstuctivas y de velocidad/coordinación visuomotriz. Se han hecho análisis de correlación y comparación entre grupos para estudiar la relación entre los FRV y las diferentes funciones cognitivas.Resultados: Se observó una relación estadísticamente significativa entre un mayor riesgo vascular y un peor rendimiento en funciones visuoconstructivas y en velocidad/coordinación visuomotriz. Además, el grupo de riesgo moderado presentó un rendimiento significativamente inferior respecto al de riesgo bajo en funciones visuoconstructivas. Tras covariar por edad, sexo y años de escolaridad los FRV únicamente se relacionaron con velocidad/coordinación visuomotriz.Conclusiones: Los FRV en personas de mediana edad están relacionados con disminución del rendimiento en dos funciones cognitivas. La afectación es leve y tiende a evidenciarse en personas con un riesgo moderado (AU)
Introduction: Vascular risk factors (VRF) have been related to cognitive deficits and an increased risk of dementia. Cognitive impairment is considered to be one of the earliest manifestations of cerebrovascular disease. In Spain there is a high prevalence of VRF, but also one of the lowest incidences of cerebrovascular disease in Europe. This is the first study that investigates the relationship between VRF and cognition in a Spanish sample. Methods: A total of 90 people aged between 50-65 years with a low-to-moderate cardiovascular risk underwent a neuropsychological evaluation. None of them had a history of cardiovascular disease. The battery included tests assessing executive, attentional, mnesic, visuospatial and motor-speed/coordination functions. We used correlation and inter-groups comparison to relate VRF to multiple cognitive domains.Results: Higher stroke risk was significantly related to a lowered profile in visuo-constructive functions and motor-speed/coordination. Moreover, the group with moderate cardiovascular risk showed a lower performance in visuoconstructive functions compared to the low-risk group. After statistical adjustment for age, sex and years of scholarship VRF were only related to motor-speed/coordination. Conclusions: In healthy, middle-aged adults, VRF are related with impairment in two cognitive domains. This effect is slight and tends to appear in people with moderate cardiovascular risk (AU)
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Humanos , Transtornos Cerebrovasculares/epidemiologia , Transtornos Cognitivos/epidemiologia , Testes Neuropsicológicos , Fatores de Risco , Ataxia/epidemiologia , Percepção Visual , Distribuição por Idade e SexoRESUMO
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Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Ataxia , Ataxia/diagnóstico , Ataxia/epidemiologia , Ataxia/etiologia , Ataxia/terapia , Lidocaína , Lidocaína/administração & dosagem , Lidocaína/uso terapêutico , Cavidade Pleural , Cateterismo , Cateterismo/efeitos adversos , Doenças Pleurais , Doenças Pleurais/terapiaRESUMO
Introducción y desarrollo. Las enfermedades neurometabólicas constituyen un área compleja y en constante expansión. Si bien inicialmente consideradas como rarezas o curiosidades médicas, su crecimiento continuo y desarrollo hacen que, en la actualidad, tomen una relevancia especial por razones diversas. Por un lado permitirán que comprendamos mejor los mecanismos de enfermedad neurológica; por otra parte, desde un punto de vista clínico, se presentan de manera heterogéneay con frecuencia mediante síntomas muy prevalentes en neuropediatría como pueden ser la ataxia, el retraso mental o la epilepsia.Conclusiones. Poco a poco, el neurometabolismo nos ofrece un lenguaje a través del cual descifrar la fisiopatología de las enfermedades neurológicas independientemente de su causa. Todo esto hace que el neuropediatra necesite una formación continua y unas guías básicas a través de las cuales afrontar en la actividad clínica estos trastornos. Este artículo pretende dar una orientación práctica en este sentido
Introduction and development. Neurometabolic diseases constitute an area that is both complex and in constantgrowth. Although they were initially seen as rarities or medical curiosities, their continuous growth and development means that today they have become especially relevant for a number of reasons. On the one hand, they will provide us with a better understanding of the mechanisms involved in neurological diseases, while on the other, their clinical presentation is heterogeneousand often takes the form of symptoms that are highly prevalent in neuropaediatrics, such as ataxia, mental retardation or epilepsy. Conclusions. Little by little, neurometabolism is providing us with a language that will make it possible to decipher the pathophysiology of neurological diseases regardless of their causation. All this means that neuropaediatricians require permanent education and a set of basic guidelines that can be used to deal with these disorders in clinical practice. The purpose of this paper is to give practical guidance in this sense
Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Encefalopatias Metabólicas Congênitas/epidemiologia , Programas de Rastreamento , Deficiência Intelectual/epidemiologia , Epilepsia/epidemiologia , Ataxia/epidemiologiaRESUMO
Dysautonomic features are the clinical signs and symptoms derived from anomalous functioning of thesympathetic or parasympathetic nervous systems in either the peripheral or central parts. To identify the clinicalfeatures related to dysautonomia in a patient with spinocerebellar ataxia with severe functional disability. Patients and methods.We studied a series of cases, including 21 patients with severe disability (confirmed to their bed or wheelchair, unable to walkand totally or partly dependent on other people for essential everyday activities). The patients and their families were closelyquestioned, and full clinical examination included a test for orthostasia. Results. All patients had some signs of peripheraldysautonomia: all had vasomotor disorders (orthostasia, distal pallor and coldness, Raynauds phenomenon, etc.), 95.2 percent...(AU)
Las manifestaciones disautonómicas son todos aquellos síntomas o signos clínicos que se derivan de un funcionamiento anómalo del sistema nervioso simpático o parasimpático,tanto en sus porciones periféricas como centrales. Identificar las manifestaciones clínicas relacionadas con disautono-míasen el paciente de ataxia espinocerebelosa tipo 2 con discapacidad funcional severa. Se realizó un estudio deserie de casos en 21 enfermos con discapacidad severa (confinadosa la cama o silla de ruedas, que no pueden deambular y dependentotal o parcialmente de otra persona para realizar las actividades vitales). Se efectuó un minucioso interrogatorio clínico a enfermos y familiares, así como un examen físico exhaustivo que incluyó la prueba de ortostatismo. El 100 por ciento de la muestra presentaron alguna manifestación disautonómica periférica: trastornos vasomotores en el 100 por ciento (ortostatismo, frialdad y palidez distal,fenómeno de Raynaud...(AU)
Assuntos
Humanos , Degenerações Espinocerebelares , Ataxia/epidemiologiaRESUMO
This review has been designed to describe the main clinical, epidemiological, electrophysiological,molecular and quantitative neurological characteristics in SCA2. Development. The prevalence rate of patients with ataxia inHolguin province is 43 per 100,000 inhabitants. The prevalence of family members at risk of having this disorder is 159,33 per100 thousand in this province. The main neurophysiological abnormality observed was reduction in the amplitudes of sensorypotentials. These alterations are the expression of a predominantly axonal peripheral lesion with signs of myelin damage.Techniques of quantitative neurology were developed for evaluation of the main disorders of coordination such as dissymmetryand diadochokinesia. In Cuba 125 families have hereditary ataxia, 772 patients and 8 to 10,000 family members are at risk ofdeveloping this condition. Seventy percent of the patients with ataxia are concentrated in Holguin province. The most severelyaffected towns are Báguanos (a rate of 129,20 per 100,000 inhabitants), Holguin (71,85 per 100,000) and Cacocúm (69,83 per100,000). These are the highest rates in the world. Conclusions. The commonest molecular form in Cuba is the SCA2, observedin 120 families. Clinically it is characterized by a cerebellar syndrome associated with disorders of eye movements...(AU)