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RESUMEN Introducción: La hidrocefalia de presión normal idiopática es un complejo sintomático caracterizado por afectación de la marcha, incontinencia urinaria y deterioro del estado mental. En la actualidad no existe un esquema diagnóstico estandarizado. La tercer ventriculostomía endoscópica se comenzó a utilizar hace unos años ante la elevada tasa de complicaciones de los sistemas derivativos pero aún no se definen con claridad los factores pronósticos de su éxito y se cuestiona su indicación. Objetivo: Describir el rol de la tercer ventriculostomía endoscópica en la hidrocefalia de presión normal idiopática. Métodos: Se realizó la revisión de la literatura en bases de datos PUBMED, además de literatura gris en los servidores de preprints BioRxiv, MedRxiv y preprint.org. Se seleccionaron los artículos de los últimos 15 años sin aplicación de filtros idiomáticos. Se usaron los siguientes descriptores Normal pressure hydrocephalus AND Endoscopic third ventriculostomy. Fueron seleccionados solo aquellos artículos con texto completo disponible. Resultados: Se identificaron un total de 430 artículos. Se analizaron 10 investigaciones sobre tercer ventriculostomía endoscópica en la hidrocefalia de presión normal idiopática, ocho fueron estudios retrospectivos con el 62,5 % de los mismos con una muestra inferior a 15 pacientes, además de dos estudios de cohorte. Conclusiones: La tercer ventriculostomía endoscópica ha tenido relativo éxito en el tratamiento de pacientes cuidadosamente seleccionados con hidrocefalia de presión normal idiopática. Es un procedimiento seguro y efectivo, encaminado a mejorar la compliance intracraneal a través de la restauración de la pulsatilidad cerebral, y la influencia de la misma en la dinámica del líquido cerebroespinal.
ABSTRACT Introduction: Idiopathic normal pressure hydrocephalus is a clinical complex characterized by impaired gait, urinary incontinence and deterioration of mental status. Currently, there is not a standardized diagnostic scheme. The endoscopic third ventriculostomy began to be used a few years ago due to the high rate of complications of the derivative systems, but the prognostic factors of its success have not yet been clearly defined, and its indication is questioned. Objective: To describe role of endoscopic third ventriculostomy in idiopathic normal pressure hydrocephalus. Methods: A literature review was performed in PUBMED and preprint servers BioRxiv, MedRxiv and preprint.org. Articles from the last 15 years were selected without the application of language filters. The following descriptors Normal pressure hydrocephalus AND Endoscopic third ventriculostomy were used. Only those articles with the full text available were selected. Results: A total of 430 articles were identified. Ten investigations about endoscopic third ventriculostomy in idiopathic normal pressure hydrocephalus were analyzed, 8 were retrospective studies with 62.5% of them with a sample of less than 15 patients, in addition to two cohort studies. Conclusions: Endoscopic third ventriculostomy has been relatively successful in treating carefully selected patients with idiopathic normal pressure hydrocephalus. It is a safe and effective procedure, aimed at improving intracranial compliance through the restoration of cerebral pulsatility, and its influence on the dynamics of cerebrospinal fluid.
RESUMEN
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.
