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.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

Hip fracture incidence and social deprivation: results from a French ecological study.

The association between socioeconomic status (SES) and hip fracture (HF) incidence was analyzed in France in 2008. In men and women, a decrease in HF incidence was observed as the social deprivation index increased. This result may be partly due to the protective effect of increasing body weight against HF. INTRODUCTION: Regional variations in hip fracture (HF) incidence exist worldwide. Reasons for these variations remain unknown. As regional variations have also been observed for socioeconomic status, we analyzed the association between socioeconomic deprivation (SED) and HF incidence in France in 2008. METHODS: From the French Hospital National Database, we selected all HF encoded as primary diagnosis in persons aged 30 years and over. The recently published French version of the European Deprivation Index (EDI) was used for SED analysis, and an EDI score was measured for the year 2007 in each French local municipality. The EDI score was categorized in quintiles. Poisson regression was performed to examine the association between HF incidence and EDI adjusted for age and sex. The population attributable fraction (PAF) was measured to calculate the proportion of excess cases of HF associated with social affluence. RESULTS: In 2008, 83,538 HF were reported in France of which 59,143 were included in this study. Among them, 44,401 fractures occurred in women (75%) and 14,742 in men (25%). In both men and women, there was a decrease in the HF incidence with increasing SED index. In Poisson regression, the interaction of age class and sex was significant (p < 0.0001) and the EDI in quintiles was significantly associated with the incidence of HF (p < 0.0001). A higher number of people living in affluent residential areas corresponded to a higher risk of HF. The risk of HF is 2.42 times higher for those living in the most affluent group compared to those living in the most underprivileged group. The value of the PAF was calculated at 27.1%. CONCLUSION: Social disparities in HF incidence exist in France with the most deprived municipalities having the lowest incidence. Prior knowledge demonstrates the strong relationships between body weight and HF risk as well as between body weight and the SED. The link found in our study between EDI and HF incidence as well as regional and temporal variations in HF incidence may be partly due to the protective effect of increased body weight against HF.

[Mamba envenomation in mainland France: management of exotic envenomations needs rethinking]. / Envenimation cobraïque en France métropolitaine : repenser la prise en charge des envenimations exotiques.

We report a case of accidental green mamba (Dendroaspis viridis) envenomation in the suburbs of Paris. Although moderate, neurotoxic symptoms were clearly present. Immunotherapy with polyvalent serum FAV-Afrique was decided, but logistical problems prevented reasonably quick serum delivery to the hospital. Despite a spontaneously favourable outcome probably due to minimal envenomation, this case exemplifies a near-miss of the care system. Given the increasing incidence of potentially life-threatening exotic envenomations, management of similar cases should be improved. Besides breeders and health care professionals' information, we suggest that victims of an exotic envenomation be referred to a facility with experienced staff and ready access to a limited bank of carefully chosen antivenins.