RESUMO
Background: The main effects of Lee Silvermann Voice Treatment-BIG® therapy (LSVT-BIG) on gait function are improvements in gait speed and stride length. Considering the mechanism of this improvement, LSVT-BIG may affect joint angles of the lower extremities. Therefore, further investigation of the effect of LSVT-BIG on gait function, especially joint angles, is needed. Methods: Patients with Parkinson's disease (PD) who were eligible for LSVT-BIG were recruited. We measured the following items pre- and post-LSVT-BIG: MDS-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), Functional Independence Measure (FIM), timed up and go test (TUG), and gait parameters using RehaGait®. Gait parameters included gait speed, stride duration and length, the standard deviation of stride duration and length, cadence, the ratio of the stance/swing phase, and the flexion and extension angles of the hip, knee, and ankle joints. Range of motion (ROM) was calculated as the difference of values between the maximum flexion and extension angles of each joint. Results: Twenty-four participants completed the LSVT-BIG. Significant improvement was observed in the MDS-UPDRS (mean changes: Part I, -2.4 points; Part II, -3.5 points; Part III -8.9 points), TUG (-0.61 s), gait speed (+0.13 m/s), stride length (+0.12 m), flexion and extension angles and ROM of the hip joints (flexion, +2.0°; extension, +2.0; ROM, +4.0°). Enlargement in ROM of the hip joint was strongly correlated with increase in gait speed and stride length (r = 0.755, r = 0.804, respectively). Conclusions: LSVT-BIG enlarged flexion and extension angles and ROM of the hip joint significantly. Change of ROM of the hip joint was directly related to the increase in stride length and gait speed observed in patients with PD after LSVT-BIG.
RESUMO
We developed a diagnostic method for repeat expansion diseases using a long-read sequencer to improve currently available, low throughput diagnostic methods. We employed the real-time target enrichment system of the nanopore GridION sequencer using the adaptive sampling option, in which software-based target assignment is available without prior sample enrichment, and built an analysis pipeline that prioritized the disease-causing loci. Twenty-two patients with various neurological and neuromuscular diseases, including 12 with genetically diagnosed repeat expansion diseases and 10 manifesting cerebellar ataxia, but without genetic diagnosis, were analyzed. We first sequenced the 12 molecularly diagnosed patients and accurately confirmed expanded repeats in all with uniform depth of coverage across the loci. Next, we applied our method and a conventional method to 10 molecularly undiagnosed patients. Our method corrected inaccurate diagnoses of two patients by the conventional method. Our method is superior to conventional diagnostic methods in terms of speed, accuracy, and comprehensiveness.
RESUMO
A 49-year-old Japanese man had shown developmental delay, learning difficulties, epilepsy, and slowly progressive gait disturbance in elementary school. At 46 years old, he experienced repeated drowsiness with or without generalized convulsions, and hyperammonemia was detected. Brain magnetic resonance imaging detected multiple cerebral white matter lesions. An electroencephalogram showed diffuse slow basic activities with 2- to 3-Hz δ waves. Genetic tests confirmed a diagnosis of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Leukoencephalopathy was resolved following the administration of L-arginine and lactulose with a decrease in plasma ammonia levels and glutamine-glutamate peak on magnetic resonance spectroscopy. Leukoencephalopathy in HHH syndrome may be reversible with the resolution of hyperammonemia-induced glutamine toxicity.
