Loss-of-function of kinesin-5 KIF11 causes microcephaly, chorioretinopathy, and developmental disorders through chromosome instability and cell cycle arrest.

Kinesin motors play a fundamental role in development by controlling intracellular transport, spindle assembly, and microtubule organization. In humans, patients carrying mutations in KIF11 suffer from an autosomal dominant inheritable disease called microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR). While mitotic functions of KIF11 proteins have been well documented in centrosome separation and spindle assembly, cellular mechanisms underlying KIF11 dysfunction and MCLMR remain unclear.

Predictors of positive outcomes following resistive inspiratory muscle training in non-ambulatory persons with advanced multiple sclerosis.

Background: Inspiratory muscle training (IMT) using a threshold device improves inspiratory muscle strength. What factors influence the IMT outcome has not been examined.

Objective: To identify predictors of the positive outcome following IMT in persons with advanced multiple sclerosis (PwAMS).

Implementing technology enhanced real-time action observation therapy in persons with chronic stroke: A pilot study.

This pilot study examined a novel technology-enhanced real-time action observation therapy (TERTAOT) of symmetrical bilateral movements in survivors of chronic stroke regardless of their ability to move their paretic limb(s). The TERTAOT used a Kinect XBox One to project mirror images of non-paretic limbs as participants performed symmetrical bilateral motor tasks involving whole-body movements in sitting or standing. The participants received eight weeks of treatment consisting of 30-minutes of conventional physical therapy (balance training, gait training, neuromuscular reeducation, and generalized strength training) and 30-minutes of the TERTAOT protocol per session (three sessions per week for a total of 24 sessions).

Design of Fluorescence-Enhanced Silver Nanoisland Chips for High-Throughput and Rapid Arsenite Assay.

High-throughput and rapid arsenite (As(III)) monitoring is an urgent task to deal with the critical threat from As(III) contamination in the environment. In this study, an effective, portable, and sensitive As(III) assay was developed using the plasmonic silver (pAg) chips for As(III) detection. The pAg chips were fabricated by a simple seed-mediated method to grow the silver nanoisland films (Ag-NIFs) with the compact nanoislands and adjustable interisland gaps on the large-sized substrates.

Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization.

Objective: This study retrospectively evaluated the incidences of small supernumerary marker chromosomes (sSMCs) in prenatal diagnoses and detected with gain of pathogenic copy number variation through array comparative genomic hybridization (CGH) in a laboratory in Taiwan.

Materials And Methods: We retrospectively searched and reviewed the sSMC cases detected during prenatal diagnoses in the Youthgene medical laboratory, between 2004 and 2015 and used array CGH to successfully analyze 45 of 47,XN,+mar or 47,XN + mar/46,XN.

Results: A total of 68,087 cases of amniocentesis were analyzed, of which 59 were identified as sSMCs.

Age differences in the control of postural stability during reaching tasks.

Reaching tasks are commonly performed during daily activities and require anticipatory postural adjustments (APAs) to ensure a stable posture during movement execution. Age-related changes in APAs may impact dynamic balance and cause postural instability during reaching tasks made from standing. The present study examined age differences in postural control during reaching to targets located at different heights.