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.

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.

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.

Timectomía transesternal ampliada en forma de alas de mariposa / "Butterfly wings" shape maximal trans sternal thymectomy

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Caracterización de la epilepsia de inicio en el adulto mayor / Characterization of the onset epilepsy in the elderly

Se realizó un estudio observacional de tipo descriptivo transversal en el que se emplearon los métodos de la estadística descriptiva. El objetivo fue caracterizar la epilepsia de inicio en el adulto mayor en el Hospital Clínico Quirúrgico Arnaldo Milián Castro de la Cuidad de Santa Clara, Provincia de Villa Clara. En el estudio predominó el grupo de edad de 75-79 años, se destacaron el sexo masculino y la raza blanca, las crisis epilépticas parciales simples secundariamente generalizadas fueron las más frecuentes, los paroxismos focales constituyeron el hallazgo más relevante en el electroencefalograma, la etiología sintomática prevaleció sobre la criptogénica y la enfermedad cerebrovascular constituyó la principal causa identificada(AU)

Timectomía como opción terapéutica de la miastenia en el niño / Thymectomy as a treatment option in myasthenia in children

Sauerbruch y Blalock demostraron, de forma clara, la relación entre timectomía y mejoría de la miastenia gravis y propusieron su aplicación terapéutica de forma sistemática. Los resultados mejoraron notablemente gracias a la introducción de nuevas formas de tratamiento y cuidados intensivos especializados, de modo que el porcentaje de fallecimientos se redujo desde el 10 por ciento en la década de 1970 hasta las cifras actuales de 0-2 por ciento de todos los casos; la experiencia en el Hospital Pediátrico Provincial Universitario José Luis Miranda García con respecto a las utilidades del procedimiento es que aporta efectos beneficiosos a la evolución de la enfermedad(AU)

Trombofilias como causa de enfermedad cerebrovascular isquémica en edad pediátrica / Thrombophilia as a cause of ischemic cerebrovascular disease in childhood

La incidencia de enfermedad cerebrovascular en la infancia es baja y su diagnóstico resulta muy difícil. Se presenta un paciente con inestabilidad para la marcha, al que además se le caían los objetos de las manos; se le realizaron estudios imagenológicos que mostraron la ocurrencia de un infarto isquémico en el territorio superficial de la arteria cerebral media izquierda como manifestación de un estado de trombofilia por alteración del factor V Leiden de la coagulación, considerado heterocigótico por presentar un alelo mutado. La terapéutica se basó en antiagregación plaquetaria; posteriormente, al ser demostrada la etiología del evento, se sustituyó el tratamiento por anticoagulación. El paciente evolucionó satisfactoriamente(AU)

Miastenia grave en edad pediátrica / Miasthenia gravis in pediatric age

La miastenia grave es una enfermedad autoinmune que se caracteriza por presentar debilidad muscular fluctuante y fatiga de distintos grupos musculares secundaria a una alteración de la transmisión sináptica causada por la destrucción y el bloqueo de los receptores de acetilcolina en la unión neuromuscular. Se realizó un estudio retrospectivo mediante una revisión de las historias clínicas de los cinco casos de miastenia gravis diagnosticados en esta institución. Se encontró que son trastornos poco frecuentes en nuestra especialidad, su diagnóstico precoz es fundamental para controlar los síntomas y retardar el avance de la enfermedad, pues las crisis pueden poner en peligro la vida de los pacientes. Nuestra serie incluye cinco pacientes con miastenia. Tres de ellas de debut generalizadas y dos de forma ocular. El diagnóstico se realizó en edades muy variables desde los cuatro hasta los 16 años. Tres niños presentaron hiperplasia tímica; fueron intervenidos quirúrgicamente dos de ellos después de los nueve años, pero ambos requirieron continuar tratamiento inmunosupresor; tuvo menor éxito la cirugía del paciente con la miastenia ocular, que era el más joven de los dos. Consideramos que la timectomía está indicada en aquellos niños con miastenia generalizada inmunológica sin respuesta a los esteroides o a la gammaglobulina y que se debe evitar la realización temprana de la misma para impedir el riesgo de inmunodeficiencia(AU)