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

INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain. MATERIAL AND METHODS: These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons. RECOMMENDATIONS: The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.

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.

[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.