Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

OBJECTIVE: To assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year. METHODS: One hundred ninety-three patients with dysferlinopathy were recruited to the Jain Foundation's International Clinical Outcome Study for Dysferlinopathy. Baseline, 6-month, and 1-year assessments included adapted North Star Ambulatory Assessment (a-NSAA), Motor Function Measure (MFM-20), timed function tests, 6-minute walk test (6MWT), Brooke scale, Jebsen test, manual muscle testing, and hand-held dynamometry. Patients also completed the ACTIVLIM questionnaire. Change in each measure over 6 months and 1 year was calculated and compared between disease severity (ambulant [mild, moderate, or severe based on a-NSAA score] or nonambulant [unable to complete a 10-meter walk]) and clinical diagnosis. RESULTS: The functional a-NSAA test was the most sensitive to deterioration for ambulant patients overall. The a-NSAA score was the most sensitive test in the mild and moderate groups, while the 6MWT was most sensitive in the severe group. The 10-meter walk test was the only test showing significant change across all ambulant severity groups. In nonambulant patients, the MFM domain 3, wrist flexion strength, and pinch grip were most sensitive. Progression rates did not differ by clinical diagnosis. Power calculations determined that 46 moderately affected patients are required to determine clinical effectiveness for a hypothetical 1-year clinical trial based on the a-NSAA as a clinical endpoint. CONCLUSION: Certain functional outcome measures can detect changes over 6 months and 1 year in dysferlinopathy and potentially be useful in monitoring progression in clinical trials. CLINICALTRIALSGOV IDENTIFIER: NCT01676077.

Rhythmic arm swing enhances long latency facilitatory effect of transcranial magnetic stimulation on soleus motoneuron pool excitability.

The purpose of this study was to investigate whether rhythmic arm swing modulates the long latency effect of transcranial magnetic stimulation (TMS) on soleus motoneuron pool excitability. Ten healthy humans rhythmically swung the left arm back and forth in a sitting position. The soleus H-reflex was evoked when the arm was in the backward swing phase. Conditioning TMS was delivered over the motor cortex 8 ms before the soleus H-reflex was evoked. The soleus H-reflex amplitude in both legs was depressed by the rhythmic arm swing. In contrast, rhythmic arm swing enhanced the facilitatory effect of conditioning TMS over the motor cortex contralateral to the arm swing side on the soleus H-reflex ipsilateral to the arm swing side. This finding indicates that rhythmic arm swing enhances some polysynaptic facilitatory pathways from the motor cortex contralateral to the arm swing side to the soleus motoneuron pool ipsilateral to the arm swing side.

[Detection of antibodies by immunoblotting using Chlamydia trachomatis serovars].

We compared reactivity between Chlamydia serovar antigens and sera from 18 patients using immunoblotting (IB) and enzyme-linked immunosorbent assay (ELISA). The antigens used were Chlamydia trachomatis serovar L2, D, E, and C organisms for IB and synthetic peptides derived from C, E, G, and L2-VDIV genes for ELISA. Eleven of 12 sera collected from Chlamydia antigen-positive women with cervicitis strongly reacted with C. trachomatis serovar E, as did one serum with serovar C in immunoblotting profiles. ELISA coated individually with peptides E and C strongly reacted with the sera of 6 different patients. The IB result between serovar L2, D, E, and C and sera from the 6 other women patients showed reactivity at E > or = D > or = L2 > or = C. ELISA using a synthetic peptide mixture including C, E, G and L2 peptides gave positive results for all 18 sera. These results indicate that IB sensitivity differes with the C. trachomatis serovar antigen used and that certain cases may produce inconsistent results between IB and ELISA. Results of ELISA and IB are thus not always consistent, indicating that different synthetic peptides should be used in ELISA for detecting of low-level C. trachomatis antibodies.