ABSTRACT
La enfermedad de Tay-Sachs o gangliosidosis GM2 es una enfermedad congénita y neurodegenerativa, causada por la ausencia o déficit de la enzima esencial B-hexoaminadasa. Dependiendo de la mutación, los años de evolución de la enfermedad y las características del paciente, las manifestaciones neurológicas serán más o menos precoces y más o menos severas. La enfermedad supone una disminución de la calidad de vida y un aumento de la mortalidad, siendo la esperanza de vida de 3años en las formas más agresivas.A pesar de diversos ensayos clínicos y de investigaciones en curso, actualmente no existe ninguna cura para la enfermedad de Tay-Sachs.El tratamiento se centra en el control de los síntomas y en garantizar el mayor bienestar del paciente. Por ello, la rehabilitación desempeña papel fundamental en el manejo de estos pacientes y en la mejora de su calidad de vida.(AU)
Tay-Sachs disease, or GM2 gangliosidosis, is a congenital and neurodegenerative disease caused by the absence or deficiency of the essential enzyme B-hexosaminidase. The timing of the development of neurological manifestations and their severity depend on the mutation, time since disease onset and the patient's characteristics. The disease impairs quality of life and increases mortality. In the most aggressive forms, life expectancy is 3 years.Despite various clinical trials and ongoing research, there is currently no cure for Tay-Sachs disease.Treatment focuses on symptom control and ensuring greater patient wellbeing. Consequently, rehabilitation plays a fundamental role in the management of these patients and in enhancing their quality of life.(AU)
Subject(s)
Humans , Female , Adult , Tay-Sachs Disease , Gangliosidoses, GM2/complications , Gangliosidoses, GM2/diagnosis , Quality of Life , Mortality , Life Expectancy , Tay-Sachs Disease/drug therapy , Tay-Sachs Disease/mortality , Rehabilitation , DiagnosisABSTRACT
Tay-Sachs disease, or GM2 gangliosidosis, is a congenital and neurodegenerative disease caused by the absence or deficiency of the essential enzyme B-hexosaminidase. The timing of the development of neurological manifestations and their severity depend on the mutation, time since disease onset and the patient's characteristics. The disease impairs quality of life and increases mortality. In the most aggressive forms, life expectancy is 3 years. Despite various clinical trials and ongoing research, there is currently no cure for Tay-Sachs disease. Treatment focuses on symptom control and ensuring greater patient wellbeing. Consequently, rehabilitation plays a fundamental role in the management of these patients and in enhancing their quality of life.
Subject(s)
Neurodegenerative Diseases , Tay-Sachs Disease , Humans , Mutation , Quality of Life , Tay-Sachs Disease/genetics , beta-N-Acetylhexosaminidases/geneticsABSTRACT
Introducción y objetivos: La Fascitis plantar (FP) es una causa frecuente de talalgia y discapacidad. Pretendemos valorar la efectividad del Tratamiento con Ondas de Choque (TOC) Focales Piezoeléctricas con apoyo ecográfico y mantenimiento del efecto a 3 y 6 meses. Material y Métodos: Estudio retrospectivo cuasi-experimental junio 2015 a Junio 2017, con 90 pacientes, 36,6% hombres y 63,3% mujeres, edad media 52 años, diagnosticados de FP. Se realizaron 3 sesiones (una semanal durante 3 semanas) de tratamiento con Ondas de Choque (Generador PiezoWave F10 G4), con apoyo ecográfico, con revisión semanal, a los 3 y 6 meses. Variables principales: dolor, cuantificado mediante Escala Visual Analógica (EVA) antes y después de cada sesión, a los 3 y 6 mesesy Escala de Roles y Maudsley al final del tratamiento y a los 3 y 6 meses. Se aplicaron 2000 pulsos por sesión, energía media 0,45 mJ/mm2, mediana de frecuencia 8 MHz y mediana de profundidad del foco 15 mm. Resultados: Se obtuvo mejoría estadísticamente significativa mediante EVA entre las 3 sesiones de tratamiento y al cabo de 3 y 6 meses post-tratamiento, obteniendo una mejoría estadísticamente significativa en todos los valores (p <0.05). Según la escala Roles y Maudsley, el 69,7% de los pacientes consideran el resultado bueno o excelente a los 3 meses y un 68,9% a los 6 meses; resultado estadísticamente significativo. Conclusión: El TOC piezoeléctricas focales con apoyo ecográfico puede constituir una buena opción terapéutica en FP. Reduce el dolor desde la primera sesión, y consigue una percepción subjetiva de la mejoría mantenida a los 6 meses post-tratamiento
Introduction: Plantar fasciitis (PF) is one of the most frequent causes of thalalgia and disability. The effectiveness of extracorporeal shock wave therapy is an ideal alternative to conservative treatments. Objetive: To evaluate the effectiveness of the treatment with Piezoelectric Focal Shock Waves with echographic support and maintenance of the effect at 3 and 6 months. Materials and Methods: Causi-experimental, retrospective statistical study,June 2015 to June 2017, of 90 patients, 36.6% men and 63.3% women, with a mean age of 52 years, diagnosed with PF. Three sessions (one weekly for 3 weeks) of shock wave therapy (PiezoWave F10 G4 generator) were performed, with echographic support and weekly revision and at 3 and 6 months. Main variables: pain,using Visual Analog Scale before and after each session and at 3 and 6 months and Roles and Maudsley Scale at the end of treatment and at 3 and 6 months. Results: 2000 pulses per session were applied, medium energy intensity 0.45 mJ /mm2, median frequency 8 MHz and median depth of focus of 15 mm. Statistically significant improvement was observed in the Visual Analog Scale between the 3 treatment sessions and after 3 and 6 months posttreatment,obtaining a statistically significant improvement in all values (p <0.05). Conclusion: Treatment with piezoelectric focal shock waves in PF may reduces pain from the first session and achieves a subjective perception of improvement, maintaining these results at 6 months post-treatment
Subject(s)
Humans , Male , Female , Middle Aged , Fasciitis, Plantar/surgery , Ultrasonic Surgical Procedures/methods , Pain Management , Pain Measurement , Retrospective Studies , Time Factors , Treatment OutcomeABSTRACT
INTRODUCTION: Plantar fasciitis (PF) is one of the most frequent causes of thalalgia and disability. The effectiveness of extracorporeal shock wave therapy is an ideal alternative to conservative treatments. OBJETIVE: To evaluate the effectiveness of the treatment with Piezoelectric Focal Shock Waves with echographic support and maintenance of the effect at 3 and 6 months. MATERIALS AND METHODS: Causi-experimental, retrospective statistical study,June 2015 to June 2017, of 90 patients, 36.6% men and 63.3% women, with a mean age of 52 years, diagnosed with PF. Three sessions (one weekly for 3 weeks) of shock wave therapy (PiezoWave F10 G4 generator) were performed, with echographic support and weekly revision and at 3 and 6 months. MAIN VARIABLES: pain,using Visual Analog Scale before and after each session and at 3 and 6 months and Roles and Maudsley Scale at the end of treatment and at 3 and 6 months. RESULTS: 2000 pulses per session were applied, medium energy intensity 0.45 mJ /mm2, median frequency 8 MHz and median depth of focus of 15 mm. Statistically significant improvement was observed in the Visual Analog Scale between the 3 treatment sessions and after 3 and 6 months posttreatment,obtaining a statistically significant improvement in all values (p <0.05). CONCLUSION: Treatment with piezoelectric focal shock waves in PF may reduces pain from the first session and achieves a subjective perception of improvement, maintaining these results at 6 months post -treatment.
Subject(s)
Fasciitis, Plantar/surgery , Ultrasonic Surgical Procedures/methods , Female , Humans , Male , Middle Aged , Pain Management , Pain Measurement , Retrospective Studies , Time Factors , Treatment OutcomeABSTRACT
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