Comparación de ortesis para el tratamiento de la artrosis de la base del pulgar / Compare splint for patients with thumb osteoarthritis (OA)

INTRODUCCIÓN: El tratamiento de la osteoartritis (OA) tiene como primer objetivo reducir el dolor y mejorar la función de la articulación afectada. La primera indicación para el tratamiento conservador de la rizartrosis es la inmovilización. La intención de inmovilizar es proveer soporte a la articulación carpometacarpiana (CMC) del pulgar mientras se permiten movimientos funcionales de la mano. Hay una variedad de ortesis para el pulgar disponibles, tanto prefabricadas como hechas a medida, y en diferentes tipos de material. Lamentablemente no hay lineamientos específicos del tipo de ortesis adecuada para la OA de la articulación CMC. El abordaje del Terapista Ocupacional incluye la consideración de la utilización de ortesis. Además el Terapista Ocupacional confecciona ortesis termoconformadas hechas a medida. OBJETIVO: Evaluar la efectividad de las ortesis termoconformadas inmovilizadoras de las articulaciones CMC y Metacarpofalangica (MCF) del pulgar vs. las ortesis termoconformadas inmovilizadoras de la articulación CMC. PACIENTES Y MÉTODO: Ensayo clínico no farmacológico de tecnología médica de riesgo no significativo, usando un diseño cruzado de nueve semanas de duración con dos períodos de tratamiento de cuatro semanas cada uno y una semana intermedia de washout (sin ortesis). En el primer período de tratamiento al paciente se le asignó aleatoriamente una ortesis corta o la larga que utilizó durante cuatro semanas y luego de una semana de washout cambió a la otra durante otras cuatro semanas. El estudio se realizó con pacientes derivados consecutivamente asignados al azar a fin de un tratamiento diferente. El dolor se evaluó con la Escala Visual Analógica. (EVA). La capacidad funcional manual se evaluó con la Sub Escala Funcional del Australian Canadian Osteoarthritis Hand Index versión (AUSCAN; Queensland, Australia), validada al español. RESULTADOS: Se incluyeron 18 pacientes, 13 (72%) eran de sexo femenino y tenían una mediana (p25-75) edad de 59.00 (55.00-66.50) años. En cuanto al estadio radiológico 1 (5.6%) paciente tenía estadío radiológico Eaton I, 10 (55.6 %) Eaton II, y 7 (38.9%) Eaton III. Siete pacientes (38.9%) comenzaron la intervención con la ortesis corta y 11 (61.1%) con la ortesis larga. El dolor disminuyó significativamente en el primer período: al día 0 la mediana de dolor fue 7.5 (5.00-9.00), en comparación con el día 28 donde la mediana fue de 3.00 (2-6.25) (p=000.1). La función mejoró significativamente en el primer período; la mediana de función manual al día 0 fue 0.54 (00.47-00.68), en comparación con el día 28 que fue de 0.76 (0.51-0.86) (p=0.028). No se observaron cambios significativos en dolor y función en el segundo período. No hubo diferencia en el tipo de ortesis asignada de acuerdo a mano dominante, mano tratada, uso de analgésicos y estadio de Eaton, pero hubo una mayor tendencia de utilizar la ortesis corta en ocupaciones de carga media, de 12.00 pacientes (66%), 7.00 (58,3%) ortesis cortas, versus 5.00 (41,7%) ortesis larga (p=0.017). Para pacientes con ocupaciones de carga liviana de 6.00 pacientes (33,3%), 6.00 (100%) tuvieron una tendencia de utilizar ortesis largas (p=0.017). CONCLUSIONES: Independiente del modelo de ortesis que se utilice, en este estudio se observó una mejoría clínica de los pacientes tanto en intensidad de dolor como en la función al primer mes de tratamiento. Estos hallazgos indicarían que este tipo de intervención terapéutica es positiva en rizartrosis. (AU)

INTRODUCTION: The treatment of osteoarthritis (OA) has as its primary objective to reduce pain and improve function of the affected joint. The first indication for conservative treatment is immobilization. The intention is to provide support to immobilize the carpometacarpal (CMC) of the thumb while functional hand movements are allowed. There are a variety of thumb splints available, both prefabricated and custommade, and different types of material. Unfortunately there are no specific guidelines on the type of correct splint for OA of the CMC joint. The Occupational Therapist approach includes consideration of the use of orthotics. OBJECTIVE: Analyze the effect of two different splints: thermoformed orthotics immobilizing the CMC and metacarpophalangeal (MCP) joints of the thumb vs. the thermoformed orthotics immobilizing the CMC joint, on hand function and pain in individuals with CMC OA. PATIENTS AND METHODS: Non-pharmacological medical technology clinical trial no significant risk, using a two period crossover design, the two four-week treatment periods were separated by oneweek washout period (without splint). A table of random symbols was used to determine treatment order assignments. Pain was evaluated by the Visual Analogue Scale (VAS); and hand functional by the Functional Sub Scale of Canadian Osteoarthritis Hand Index Australian version (AUSCAN, Queensland, Australia), validated in Spanish. RESULTS: Eighteen patients were included, 13 (72%) were female and they were middle-aged (p 25-75) of 59.00 (55.00-66.50) years. As for the radiological stage 1 (5.6%) patient had Radiological stage Eaton I, 10 (55.6 %) Eaton II, y 7 (38.9%) Eaton III. Seven patients (38.9%) started the intervention with the short orthosis and 11 (61.1%) with the long orthosis. The pain decreased significantly in the first period: at day 0 the median pain was 7.5 (5.00-9.00), compared to day 28 where the median was 3.00 (2- 6.25) (p = 000.1). The function improved significantly in the first period; the median manual function at day 0 was 0.54 (00.47- 00.68), compared to day 28 which was 0.76 (0.51-0.86) (p = 0.028). There were no significant changes in pain and function in the second period. There was no difference in the type of splint assigned according to dominant hand, hand treated, analgesic use and Eaton stage, but there was a greater tendency to use short orthotics in medium load occupations of 12.00 patients (66%), 7.00 (58.3%) short orthoses, versus 5.00 (41.7%) long orthoses (p = 0.017). For patients with light load occupations of 6.00 patients (33.3%), 6.00 (100%) had a tendency to use long orthoses (p = 0.017). CONCLUSIONS: Regardless of the orthotic model used, in this study clinical improvement was observed in both pain intensity and function at the first month of treatment. These findings would indicate that this type of therapeutic intervention is positive in thumb osteoarthritis. (AU)

[Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family]. / Síndrome de Leigh causado por la mutación G14459A del ADN mitocondrial en una familia mexicana.

INTRODUCTION: Leigh syndrome is a neurodegenerative and progressive disease that appears usually in childhood due to defects in nuclear or mitochondrial genome. The mutation G14459A in mitochondrial DNA has been associated previously to Leber hereditary optic neuropathy and recently to Leigh syndrome. CASE REPORT: A 10 months-old Mexican girl diagnosed of Leigh syndrome. Molecular-genetic studies detected the mutation G14459A in a percentage close to homoplasmy and in low heteroplasmy in her mother. The rest of the maternally related family members analyzed were negative. CONCLUSION: The G14459A mutation, although not very frequently associated to Leigh syndrome, should be analyzed in patients that do not present the most common point mutations.

[A single deletion of mitochondrial DNA in a Brazilian patient with chronic progressive external ophthalmoplegia]. / Deleción en el ADN mitocondrial de una paciente brasileña con oftalmoplejía cróncia progresiva externa.

INTRODUCTION: The syndrome of chronic progressive external ophthalmoplegia (CPEO) has been associated to the presence of large deletion, single or multiple, in the mitochondrial DNA of skeletal muscle. CASE REPORT: We report a sporadic case of chronic progressive external ophthalmoplegia that began at age 19 years and was associated with ragged red fibers in skeletal muscle. Genetic analysis of mitochondrial DNA revealed the presence of a single deletion of 4237 bp that encompasses the nucleotide positions 9486 to 13722, a location that has not been described before, and flanked by a direct repeat sequence. The deletion is flanked by a direct repeat. CONCLUSIONS: The amount of deleted mitochondrial DNA (55%) in this patient's muscle suggests that this deletion is the molecular cause of the phenotypic presentation of this patient.

[Genetic diseases of the mitochondrial DNA in humans]. / Enfermedades genéticas del ADN mitocondrial humano.

Mitochondrial diseases are a group of disorders produced by defects in the oxidative phosphorylation system (Oxphos system), the final pathway of the mitochondrial energetic metabolism, resulting in a deficiency of the biosynthesis of ATP. Part of the polypeptide subunits involved in the Oxphos system are codified by the mitochondrial DNA. In the last years, mutations in this genetic system have been described and associated to well defined clinical syndromes. The clinical features of these disorders are very heterogeneous affecting, in most cases, to different organs and tissues and their correct diagnosis require precise clinical, morphological, biochemical and genetic data. The peculiar genetic characteristics of the mitochondrial DNA (maternal inheritance, polyplasmia and mitotic segregation) give to these disorders very distinctive properties. The English version of this paper is available at: http://www.insp.mx/salud/index.html.