Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life

Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. Our goal was to study phenotypic variability throughout life

Effectiveness of rehabilitation on pain and function in people affected by hemophilia

Introduction: Literature provides unclear evidence of the effectiveness of many physiotherapy interventions on pain intensity, quality of life, and functional ability in hemophilic patients, and suggests that rehabilitation programs should be focused on functional goals and the disability of patients. Aim: The aim of the present study is to present the outcome of a case series of patients with hemophilia in which a rehabilitation program has been carried out on the basis of a specific individual patient’s functional impairment. Methods: Fifty-one patients were enrolled: 32 patients (Rehab Group) received a rehabilitative treatment, 19 patients for different reasons (living far from the hospital, family problems) did not receive rehabilitation (Control Group). The rehabilitation program was planned with respect to the emergent problems: musculoskeletal pain, joint range of motion limitation, muscle flexibility, walking difficulties, the appearance of hematomas/hemartro, and postural problems. All the patients were assessed at baseline (T0), after 1 month (T1), and after 3months (T2) through visual analogic scale for musculoskeletal pain, the Hemophilia Joint Health Score for joint range of motion, the Functional Independence Score in Hemophilia for disability, and postural assessment by visual inspection. Results: A significant reduction of pain and improvement of Hemophilia Joint Health Score and Functional Independence Score in Hemophilia score was found in the Rehab Group along with the follow-up. Pain in the Control Group was lower with respect to the other group at baseline and significantly decreased after 1 month. Conclusion: A rehabilitation program focused on individual impairment of patients with hemophylia determined satisfying results in terms of pain control, functional, and disability improvement in 3 months follow-up. Abbreviations: ANOVA = analysis of variance, FISH = Functional Independence Score in Hemophilia, HJHS = Hemophilia Joint Health Score, SD = standard deviation, SPSS = statistical package for social sciences, VAS = visual analogic scal

Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy

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6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction

The aim of the study was to establish if the decrease in gait velocity on the 6 minute walk test relates to signs of neuromuscular junction dysfunction in spinal muscular atrophy type 3 patients. 6 minute walk test and low-rate repetitive nerve stimulation test were performed in fifteen ambulant patients with spinal muscular atrophy type 3 of age between 9 and 66 years. The 6 minute walk distance ranged between 66 and 575 m. The difference between the first and the 6th minute ranged between 0 and \ue2\u88\u9269%. The low-rate repetitive nerve stimulation test measured in % of loss ranged between \ue2\u88\u9231.7% to +4.2% to the axillary nerve. The correlation between 6 minute walk test changes and low-rate repetitive nerve stimulation test changes was 0.86. Our data suggest that the 6 minute walk test can identify fatigue in the ambulant type 3 patients who have a concurrent neuromuscular junction dysfunction. The identification of fatigue with a simple clinical test may help to target patients who may benefit from drugs that facilitate neuromuscular transmission

Adult-onset Still\u2019s disease: an Italian multicentre retrospective observational study of manifestations and treatments in 245 patients

Adult-onset Still\u2019s disease (AOSD) is a systemic inflammatory condition of unknown aetiology characterized by typical episodes of spiking fever, evanescent rash, arthralgia, leukocytosis and hyperferritinemia. Given the lack of data in Italian series, we promote a multicentric data collection to characterize the clinical phenotype of Italian patients with AOSD. Data from 245 subjects diagnosed with AOSD were collected by 15 centres between March and May 2013. The diagnosis was made following Yamaguchi\u2019s criteria. Data regarding clinical manifestations, laboratory features, disease course and treatments were reported and compared with those presented in other published series of different ethnicity. The most frequent features were the following: arthritis (93\ua0%), pyrexia (92.6\ua0%), leukocytosis (89\ua0%), negative ANA (90.4\ua0%) and neutrophilia (82\ua0%). As compared to other North American, North European, Middle Eastern and Far Eastern cohorts, Italian data show differences in clinical and laboratory findings. Regarding the treatments, in 21.9\ua0% of cases, corticosteroids and traditional DMARDs have not been able to control the disease while biologics have been shown to be effective in 48 to 58 patients. This retrospective work summarizes the largest Italian multicentre series of AOSD patients and presents clinical and laboratory features that appear to be influenced by the ethnicity of the affected subjects