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.

Position statement relating ankle fractures in major outpatient surgery. / Documento de posicionamiento respecto a las fracturas de tobillo en cirugía mayor ambulatoria.

INTRODUCTION: The increase in the prevalence of osteoporosis associated with ageing, and sports and traffic accidents, are responsible for the increase in ankle fractures. This fact emphasises the need to protocolise their care in order to provide greater clinical benefit to patients, and better cost-benefit ratios to the health system. AIM AND METHOD: At present, there is no common framework for implementation of protocols and internal circuits of the Spanish centres for ankle fractures by means of major outpatient surgery (MOS), which is the final objective of this position paper. For this, the clinical and economic evidence of MOS, the local environment and the strategies for its implementation are reviewed, related to ankle fractures. CLINICAL AND ECONOMIC EVIDENCE: The results showed a better cost-benefit ratio in outpatients compared to traditional hospitalisation, with lower complications and readmission rates and therefore significant cost savings. BARRIERS AND STRATEGIES: General and specific barriers are reviewed, as well as strategies and circuits for proper implementation. RESULTS: The results show lower complication and readmission rates together with significant cost savings. It entails a better cost-benefit ratio in outpatient care compared to traditional hospitalisation. POSITION STATEMENT: The implementation of MOS contributes to improve the quality of care, and the satisfaction of both, patient and health care team, while optimising the utilisation of resources. Ankle fractures in patients selected for both the underlying pathology, anaesthetic risk, and the type of fracture can be operated satisfactorily under the MOS.

Fractures of the central metatarsal.

We reviewed the evolution and final results of 57 patients with central metatarsal fractures treated in Hospital "La Fe" in Valencia between 1982 and 1993. The treatments were nonsurgical in 36 cases and surgical in 21 cases. The most frequent etiologies were traffic accidents, followed by work-related accidents. The fractures were classified according to their anatomic localization and whether they were closed (44 cases) or open (13 cases). Poor functional results manifested by metatarsalgia were present most often when one or two of the following were present: comminution, sagittal plane displacement, open fracture, or severe soft tissue injury. The mean follow-up was 5 years.

[Nonchromaffin neurogenic tumors of the intestinal tract. A report of 2 cases and their relation to von Recklinghausen's neurofibromatosis]. / Tumores neurogénicos no cromafines del tracto intestinal. Aportación de dos casos y estudio de su relación con la neurofibromatosis de von Recklinghausen.

Two patients with neurogenic gastrointestinal tumors are reported. One of them was a gangliocytic paraganglioma of the duodenum. The second one, a jejunal tumors in a patient with Von Recklinghausen's disease (ganglioneuroma). The neural crest origin of these tumours is discussed.

[Atypical lumbar Schuermann's disease: a presentation of 6 cases]. / Enfermedad de Scheuermann lumbar atípica: a propósito de 6 casos.

Scheuermann's disease is the most common cause of kyphosis in adolescence, and one of the most common causes of back pain in this age group. It is most commonly located in thoracic spine and is generally painless. Scheuermann's disease in the lumbar spine is less known and may go undetected in daily clinical practice. Blumenthal described this entity as atypical lumbar Scheuermann's disease. This form presents with Schmorl's hernias in one or two vertebral bodies, with narrowing of disc space and changes in the vertebral plates. It is more often painful and it can be confused with traumatic, infectious or tumor diseases. In most patients, a radiographic study is enough to establish the diagnosis and to differentiate both forms. Our series consists of six patients affected with the atypical form of lumbar Scheuermann's disease and diagnosed by us. All patients had a repeated history of back pain with associated Schmorl's hernias, and a very high increase in lateral diameter in radiographic views of the lumbar spine. Involvement of a single vertebral body was the most prevalent (50% of cases), and the 4th lumbar vertebra was the most commonly affected. All patients returned to normal activities after conservative treatment with temporary immobilization and NSAIDs during pain episodes.