Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

INTRODUCTION: Charcot-Marie-Tooth (CMT) disease is classified considering the neurophysiological and histological findings, the inheritance pattern and the underlying genetic defect. In recent years, with the advent of next generation sequencing, genetic complexity has increased exponentially, expanding the knowledge about disease pathways, and having an impact in clinical management. The aim of this guide is to offer recommendations for the diagnosis, prognosis, monitoring and treatment of this disease in Spain. MATERIAL AND METHODS: This consensus guideline has been developed by a multidisciplinary panel encompassing a broad group of professionals including neurologists, neuropediatricians, geneticists, rehabilitators, and orthopaedic surgeons. RECOMMENDATIONS: The diagnosis is based in the clinical characterization, usually presenting with a common phenotype. It should be followed by an appropriate neurophysiological study that allows for a correct classification, specific recommendations are established for the parameters that should be included. Genetic diagnosis must be approached in sequentially, once the PMP22 duplication has been ruled out if appropriate, a next generation sequencing should be considered taking into account the limitations of the available techniques. To date, there is no pharmacological treatment that modifies the course of the disease, but symptomatic management is important, as are the rehabilitation and orthopaedic considerations. The latter should be initiated early to identify and improve the patient's functional impairments, including individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transpositions. The follow-up of patients with CMT is exclusively clinical, ancillary testing are not necessary in routine clinical practice.

Estudio de viabilidad y adhesividad celular de osteoblastos a cementos óseos utilizados en técnicas de refuerzo vertebral, mezclados con hidroxiapatita a distintas concentraciones / Study of the viability and adhesion of osteoblast cells to bone cements mixed with hydroxyapatite at different concentrations to use in vertebral augmentation techniques

Objetivo: El objetivo de este estudio es comparar la biocompatibilidad y efecto sobre osteoblastos de polimetilmetacrilato solo y PMMA al que se ha añadido, hidroxiapatita en concentraciones del 5, 10, 15 y 20%, no superando nunca esta cifra del 20%, dado que si se supera esta cifra pueden verse alteradas las propiedades biomecánicas del PMMA. Material y métodos: Estudio experimental que consiste en el estudio de la adhesividad, diferenciación y muerte celular sobre discos de PMMA y composite PMMA/HA a diferentes concentraciones. Resultados: Los composites al 15 y especialmente al 20% presentaron mejor respuesta osteoblástica, mayores marcadores de actividad y menores marcadores de apoptosis. En las imágenes de microcopía electrónica se aprecia una mayor adhesión celular (AU)

Objective: The purpose of this study is to compare the biocompatibility and the effect in osteoblasts of polymethyl methacrylate alone, and mixed with hydroxyapatite in different concentrations of 5, 10, 15 and 20%, without exceeding 20%, as it can alter mechanical properties of the composite. Material and methods: Experimental study comparing osteoblast response to Polymethyl methacrylate alone and with hydroxyapatite in different concentrations. Results: Composites at 15 and 20% obtained better osteoblast response, with higher osteoblastic activity markers, and lower apoptosis markers. Electron microscopy images show improved adhesion of osteoblasts (AU)

Study of the viability and adhesion of osteoblast cells to bone cements mixed with hydroxyapatite at different concentrations to use in vertebral augmentation techniques.

OBJECTIVE: The purpose of this study is to compare the biocompatibility and the effect in osteoblasts of polymethyl methacrylate alone, and mixed with hydroxyapatite in different concentrations of 5, 10, 15 and 20%, without exceeding 20%, as it can alter mechanical properties of the composite. MATERIAL AND METHODS: Experimental study comparing osteoblast response to Polymethyl methacrylate alone and with hydroxyapatite in different concentrations. RESULTS: Composites at 15 and 20% obtained better osteoblast response, with higher osteoblastic activity markers, and lower apoptosis markers. Electron microscopy images show improved adhesion of osteoblasts.

Luxación subaxial cervical inveterada. Discusión de cuál es la mejor estrategia terapéutica / Inveterate subaxial cervical dislocations: a discussion on the best therapeutic strategy

Las luxaciones cervicales inveteradas presentan serias dificultades a la hora de plantear su tratamiento adecuado, por un lado, debido la dificultad de su reducción y, por otro, al riesgo de inducir lesiones iatrogénicas durante su reducción. A este hecho hay que añadir la escasa y controvertida bibliografía existente a la hora de establecer la estrategia quirúrgica más apropiada para su manejo. Presentamos un caso clínico tratado en la Unidad de Raquis del Servicio de Cirugía Ortopédica y Traumatología del Complejo Hospitalario Universitario de Santiago de Compostela, discutiendo las 2 opciones de tratamiento que actualmente se consideran las más utilizadas: el abordaje anterior-posterior-anterior y el posterior-anterior-posterior. Tras el análisis de los datos obtenidos de la revisión de este caso, podríamos concluir que el abordaje quirúrgico de estas lesiones resulta en general difícil, pudiéndose realizar las 2 técnicas anteriormente descritas, pero con la precaución de extirpar siempre la totalidad del disco intervertebral afectado antes de realizar las maniobras de corrección axial, por el riesgo de extrusión del mismo hacia canal medular. Con posterioridad a este gesto quirúrgico, se procedería a una correcta liberación y reducción de las facetas articulares, siendo necesario, en ocasiones, añadir osteotomías en las mismas (AU)

It is difficult to decide the appropriate treatment for inveterate cervical dislocations because of the difficulty of their reduction, as well as due to the risk of inducing iatrogenic injuries during this reduction. The literature on the most appropriate surgical strategy for their management is also limited as well as controversial.We report one clinical case treated in the Spine Unit of the Orthopedic Surgery and Trauma Service of the University Hospital of Santiago de Compostela, discussing the currently most used treatment options, the anterior-posterior-anterior and the posterior-anterior-posterior approach. After analyzing the results, it could be concluded that the surgical approach to these lesions is generally difficult, with any of two techniques described above being suitable, but always with the precaution to remove the entire affected intervertebral disc before axial correction maneuvers, thus avoiding the risk of extrusion into the medullary canal. After the surgical procedure, a proper release and reduction of the joint facets should be performed, sometimes with the need to add osteotomies in them (AU)

[Inveterate subaxial cervical dislocations: a discussion on the best therapeutic strategy]. / Luxación subaxial cervical inveterada. Discusión de cuál es la mejor estrategia terapéutica.

It is difficult to decide the appropriate treatment for inveterate cervical dislocations because of the difficulty of their reduction, as well as due to the risk of inducing iatrogenic injuries during this reduction. The literature on the most appropriate surgical strategy for their management is also limited as well as controversial. We report one clinical case treated in the Spine Unit of the Orthopedic Surgery and Trauma Service of the University Hospital of Santiago de Compostela, discussing the currently most used treatment options, the anterior-posterior-anterior and the posterior-anterior-posterior approach. After analyzing the results, it could be concluded that the surgical approach to these lesions is generally difficult, with any of two techniques described above being suitable, but always with the precaution to remove the entire affected intervertebral disc before axial correction maneuvers, thus avoiding the risk of extrusion into the medullary canal. After the surgical procedure, a proper release and reduction of the joint facets should be performed, sometimes with the need to add osteotomies in them.

Tratamiento del dolor lumbar crónico mediante dispositivos interespinosos / Chromic low back pain treatment by interpinous devices

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