[A DESTRUCTIVE SHOULDER ARTHROPATHY]. / Une arthropathie destructrice de l'épaule.

Charcot arthropathy is a progressive, chronic and degenerative destruction of one or several joints caused by a central or peripheral neurological disorder. Approximately 25 % of the patients with syringomyelia develop this arthropathy located in the upper limb in 80 % of the cases. An early etiological diagnosis is essential to begin the treatment of the underlying neurological disorder. Afterwards, a conservative treatment of the arthropathy is preferred. We report the story of a patient with an arthropathy of the left shoulder due to Arnold-Chiari's malformation of type I with syringomyelia.

Treatment of metastatic spinal cord compression: cepo review and clinical recommendations.

BACKGROUND: Metastatic spinal cord compression (mscc) is an oncologic emergency that, unless diagnosed early and treated appropriately, can lead to permanent neurologic impairment. After an analysis of relevant studies evaluating the effectiveness of various treatment modalities, the Comité de l'évolution des pratiques en oncologie (cepo) made recommendations on mscc management. METHOD: A review of the scientific literature published up to February 2011 considered only phase ii and iii trials that included assessment of neurologic function. A total of 26 studies were identified. RECOMMENDATIONS: Considering the evidence available to date, cepo recommends that cancer patients with mscc be treated by a specialized multidisciplinary team.dexamethasone 16 mg daily be administered to symptomatic patients as soon as mscc is diagnosed or suspected.high-loading-dose corticosteroids be avoided.histopathologic diagnosis and scores from scales evaluating prognosis and spinal instability be considered before treatment.corticosteroids and chemotherapy with radiotherapy be offered to patients with spinal cord compression caused by myeloma, lymphoma, or germ cell tumour without sign of spinal instability or compression by bone fragment.short-course radiotherapy be administered to patients with spinal cord compression and short life expectancy.long-course radiotherapy be administered to patients with inoperable spinal cord compression and good life expectancy.decompressive surgery followed by long-course radiotherapy be offered to appropriate symptomatic mscc patients (including spinal instability, displacement of vertebral fragment); andpatients considered for surgery have a life expectancy of at least 3-6 months.

Clinical and genetic knowledge and attitudes of patients with myotonic dystrophy type 1.

AIMS: The goal was to assess clinical and genetic knowledge and attitudes in patients affected by myotonic dystrophy type 1 (DM1). METHODS: Two hundred patients with molecular confirmation of the diagnosis of DM1 completed a multi-choice questionnaire. DM1 patients' knowledge and views were compared to clinically normal DM1 noncarriers (n = 264) and controls (n = 1,474). RESULTS: Knowledge of the DM1 mode of inheritance was better in noncarriers than in patients (p < 0.001). Noncarriers were more aware than DM1 patients of the common clinical characteristics of DM1 such as limitations in physical activities and problems related to employment, schooling, activities of daily living, parenthood, peer relationships, and personality (p < 0.001). Compared to controls, DM1 patients felt less informed about the availability of clinical genetic services (p < 0.05) and new genetic technologies (p < 0.001). Among patients, logistic regression revealed that each additional year of education (p < 0.05) and each additional 100 CTG repeats (p < 0.01), respectively, increased and decreased the odds of knowing the DM1 mode of inheritance by about 23% and 18% respectively, independently of age, age at onset of symptoms, gender, severity of muscular impairment, and intellectual quotient. CONCLUSIONS: DM1 patients' genetic knowledge is significantly dependent of the level of education and the number of CTG repeats. Healthcare providers should be aware of this situation in order to adjust counselling and education accordingly.

4-(Methylnitrosamino)-1-(3-pyridyl)-1-butanone, a component of tobacco smoke, modulates mediator release from human bronchial and alveolar epithelial cells.

Respiratory epithelial cells are known to contribute to immune responses through the release of mediators. The aim of this study was to characterize the immunomodulatory effects of 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK), a tobacco carcinogen, on respiratory epithelial cells and to compare two metabolic pathways, alpha-methylhydroxylation and alpha-methylenehydroxylation, involved in these effects using selective precursors, 4-(acetoxy-methylnitrosamino)-1-(3-pyridil)-1-butanone (NNKOAc) and N-nitroso (acetoxymethyl) methylamine (NDMAOAc), respectively. Human bronchial and alveolar epithelial cell lines, BEAS-2B and A549, respectively, were treated with NNK, NNKOAc and NDMAOAc for 24 h with and without tumour necrosis factor (TNF) and mediators released in cell-free supernatants were measured by enzyme-linked immunosorbent assay (ELISA). NNK significantly inhibited interleukin (IL)-8, IL-6 and monocyte chemoattractant protein-1 (MCP-1) production in both cell types. Similar results were observed with primary bronchial and alveolar epithelial cells. Although NNK increased prostaglandin E(2) (PGE(2)) production by A549 cells, its immunomodulatory effects were not mediated by PGE(2) according to the results with cyclo-oxygenase inhibitors. NNKOAc mimicked NNK effects, whereas NDMAOAc significantly inhibited IL-8 production in BEAS-2B cells and MCP-1 in both cell types. These results demonstrate that NNK and its reactive metabolites have immunosuppressive effects on respiratory epithelial cells, which could contribute to the increased respiratory infections observed in smokers and the development and/or the progression of lung cancer.

Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy.

OBJECTIVE: To document the intra/interrater reliability and the construct validity of the Muscular Impairment Rating Scale (MIRS) in assessing patients with myotonic dystrophy type 1 (DM1). The MIRS is a ordinal five-point rating scale, established in accordance with the clinically recognized distal to proximal progression of the muscular involvement in DM1, based partly on a manual muscle testing (MMT) of 11 muscle groups. METHODS: To assess the reliability of the MIRS, 55 patients with DM1 were examined by three different observers, one of them evaluating each patient twice. Intra- and interobserver reliability of the MIRS was measured using Cohen's weighted kappa. To assess the construct validity of the MIRS, correlations were made with the Functional Status Index (FSI) and eight timed functional tasks. RESULTS: The intraobserver reliability of the MIRS was excellent (weighted kappa = 0.84), and the interobserver reliability was interpreted as a substantial agreement (weighted kappa = 0.77 to 0.79). The correlation coefficients between MMT scores and MIRS grades were all highly significant (r(s) = -0.81 to -0.88, p < 0.001). The FSI showed a significant progressive increase of the total median dependence score in activities of daily living from 0 in MIRS grade 1 to 39 in MIRS grade 5 (p < 0.001). The time needed to perform the eight functional tasks was also found to significantly increase in relation with the progression of the MIRS grades. CONCLUSION: The MIRS is a quick, simple, and reliable measurement of muscular impairment in DM1. The FSI questionnaire and the timed motor activities supported its construct validity. The MIRS is useful to monitor major stages of DM1 progression, to study the natural history of the disease, and to identify homogeneous groups of patients for clinical trials.