Reliability of single and paired‐pulse transcranial magnetic stimulation in the vastus lateralis muscle

Introduction: Transcranial magnetic stimulation (TMS) is an important tool to examine neurological pathologies, movement disorders, and central nervous system responses to exercise, fatigue, and training. The reliability has not been examined in a functional locomotor knee extensor muscle. Methods: Within‐ (n = 10) and between‐day (n = 16) reliability of single and paired‐paired pulse TMS was examined from the active vastus lateralis. Results: Motor evoked potential amplitude and cortical silent period duration showed good within‐ and between‐day reliability (intraclass correlation coefficient [ICC] ≥ 0.82). Short‐ and long‐interval intracortical inhibition (SICI and LICI, respectively) demonstrated good within‐day reliability (ICC ≥ 0.84). SICI had moderate to good between‐day reliability (ICC ≥ 0.67), but LICI was not repeatable (ICC = 0.47). Intracortical facilitation showed moderate to good within‐day reliability (ICC ≥ 0.73) but poor to moderate reliability between days (ICC ≥ 0.51). Conclusions: TMS can reliably assess cortical function in a knee extensor muscle. This may be useful to examine neurological disorders that affect locomotion. Muscle Nerve 52: 605–615, 2015     

Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia

We screened patients with choroideremia using next-generation sequencing (NGS) and identified a novel mutation and a known mutation in the CHM gene. One patient presented an atypical fundus appearance for choroideremia. Another patient presented macular hole retinal detachment in the left eye. The present case series shows the utility of NGS-based screening in patients with choroideremia. In addition, the presence of macular hole in 1 of the 2 patients, together with a previous report, indicated the susceptibility of patients with choroideremia to macular hole.Key Words: Choroideremia, Next-generation sequencing, Diagnosis, Utility     

Macular Hole Associated with Vogt-Koyanagi-Harada Disease at the Acute Uveitic Stage

We describe a case with macular hole (MH) associated with Vogt-Koyanagi-Harada (VKH) disease. A 71-year-old Japanese woman presented with visual loss and headaches. The best-corrected visual acuity (BCVA) was 0.02 in the right eye (RE) and 0.1 in the left eye (LE). The patient was diagnosed with VKH based on circumferential choroidal detachments, multiple serous retinal detachments, and optic disc hyperemia. The multiple serous retinal detachments improved with high-dose corticosteroid therapy and gradual tapering. The BCVA was recovered to 1.2/0.7 in the RE/LE. Six weeks after the initial administration of steroid, vitreomacular traction was found by optical coherence tomography in the LE, which progressed to stage 4 MH with the BCVA of 0.2 in the LE. Twenty-three weeks after the initial treatment, vitrectomy was performed with the standard surgical procedures, including inner limiting membrane peeling around the fovea and air tamponade. The MH was closed successfully and the BCVA was 0.4 in the LE 5 weeks after the vitrectomy. This is the first report of a case with MH secondary to the acute uveitic stage of VKH. Successful closure of MH was achieved with the standard surgical intervention for an idiopathic MH. To conclude, at the early stage of VKH, there is a possibility of MH formation due to the rapid progress of vitreous traction following the inflammation, and the surgical procedure could be effective to resolve this secondary disorder.Key Words: Macular hole, Vogt-Koyanagi-Harada disease, Uveitis, Vitrectomy