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Understanding the mechanisms by which proteins fold from disordered amino-acid chains to spatially ordered structures remains an area of active inquiry. Molecular simulations can provide atomistic details of the folding dynamics which complement experimental findings. Conventional order parameters, such as root-mean-square deviation and radius of gyration, provide structural information but fail to capture the underlying dynamics of the protein folding process. It is therefore advantageous to adopt a method that can systematically analyze simulation data to extract relevant structural as well as dynamical information. The nonlinear dimensionality reduction technique known as diffusion maps automatically embeds the high-dimensional folding trajectories in a lower-dimensional space from which one can more easily visualize folding pathways, assuming the data lie approximately on a lower-dimensional manifold. The eigenvectors that parametrize the low-dimensional space, furthermore, are determined systematically, rather than chosen heuristically, as is done with phenomenological order parameters. We demonstrate that diffusion maps can effectively characterize the folding process of a Trp-cage miniprotein. By embedding molecular dynamics simulation trajectories of Trp-cage folding in diffusion maps space, we identify two folding pathways and intermediate structures that are consistent with the previous studies, demonstrating that this technique can be employed as an effective way of analyzing and constructing protein folding pathways from molecular simulations. [ABSTRACT FROM AUTHOR]

Objective To evaluate the effects of extracorporeal shockwave therapy (ESWT) on improving lymphedema, quality of life, and fibrous tissue in patients with stage 2 lymphedema. Methods Breast cancer-related lymphedema patients referred to the rehabilitation center were recruited. We enrolled stage 2 lymphedema patients who had firmness of the skin at their forearm, a circumference difference of more than 2 cm between each arm, or a volume difference between upper extremities greater than 200 mL, confirmed by lymphoscintigraphy. The patients were randomly divided into the ESWT group and the control group. ESWT was performed for 3 weeks (two sessions per week); both groups received complex decongestive physical therapy. All patients were evaluated at baseline and at 3 weeks after treatment. The measurements performed included visual analog scale score, volume, circumference, QuickDASH (Quick Disabilities of the Arm, Shoulder and Hand) score, bioelectrical impedance, and skin thickness. Results The patients in both groups (n=15 in each group) completed the 3-week therapy experiment. No significant differences were observed in demographic characteristics between groups. After the 3-week treatment period, improvement was noted in the circumference difference below the elbow, volume, ratio of extracellular water to total body water, and skin thickness in the ESWT group. A significant difference was found in all the above-mentioned areas except in circumference below the elbow in the ESWT group. Conclusion ESWT reduced edema and skin fibrosis without significant complications. Therefore, ESWT can be used together with complex decongestive physical therapy for treating lymphedema. [ABSTRACT FROM AUTHOR]

Objective To investigate the effects of combination functional electrical stimulation (FES) and standing frame training on standing balance in stroke patients. Methods Patients who had hemiparesis and postural instability after stroke were randomly assigned to one of the two groups; study group underwent FES on the quadriceps and tibialis anterior muscle simultaneously with standing balance training. The control group received standing frame training and FES separately. Both the groups received their respective therapies for 3 weeks. Stability index in Biodex Balance master system, Berg Balance Scale (BBS), manual muscle test, the Korean version of Modified Barthel Index, and Korean version of Mini-Mental State Examination were used to evaluate the effects of the treatment. Results In total, 30 patients were recruited to the study group and 30 to the control group. Three weeks after treatment, both the groups showed improvement in postural stability scores and physical and cognitive functions. When changes in postural stability were compared between the groups, the study group showed more significant improvement than the control group with regards to the scores of BBS and the stability indices. Conclusion In this study, we found the therapeutic effectiveness of combined therapy of FES and standing frame in subacute stroke patients. The presented protocol is proposed as time-saving and can be applied easily in the clinical setting. Thus, the proposed combined therapy could be a useful method for improving standing balance in subacute stroke patients. [ABSTRACT FROM AUTHOR]

Objective To determine positive effect of neuromuscular electrical stimulation (NMES) in conventional dysphagia therapy on masseter muscle oral dysfunction of patients after subacute stroke. Methods Among subacute stroke patients who were diagnosed as oropharyngeal dysphagia by videofluoroscopy swallowing study (VFSS), those with oral dysfunction were enrolled. They were randomly assigned to a study group or a control group. The study group received NMES on masseter muscle and suprahyoid muscle simultaneously, while the control group received NMES only on suprahyoid muscle. NMES therapy session as applied 30 minutes each time, two times per day for a total of 20 sessions. Both groups received conventional dysphagia therapy for 2 weeks. All enrolled patients were evaluated by VFSS after 2 weeks. Oropharyngeal swallowing function was evaluated by Penetration-Aspiration Scale, Functional Dysphagia Scale (FDS), and American Speech-Language-Hearing Association National Outcome Measurement System swallowing scale based on results of VFSS. Results Patients were randomly assigned to the study group (n=20) or the control group (n=20). There were no significant differences in baseline characteristics or initial values between the two groups. After 2 weeks of NMES, both groups showed improvement in scores of total FDS and pharyngeal phase FDS. Additionally, the study group showed improvement in oral phase FDS. Changes in all measurements were similar between the two groups. Conclusion In this preliminary study, NMES for masseter muscle has a therapeutic effect on oral dysfunction of patients after subacute stroke. [ABSTRACT FROM AUTHOR]

Objective To investigate the effect of upper limb rehabilitation combining robot with low-frequency repetitive transcranial magnetic stimulation (rTMS) on unilateral spatial neglect in stroke patients. Methods Patients who had hemispatial neglect after right hemisphere stroke were randomly divided into rTMS only group, robot only group, and combined group. All groups received conventional neglect therapy and additional treatment for each group. rTMS group received rTMS therapy. Robot group received robot therapy, while combined group received both therapies. The effect of therapy was assessed with Motor-Free Visual Perception Test-3 (MVPT-3), line bisection test, star cancellation test, Catherine Bergego Scale (CBS), Mini-Mental State Examination (MMSE), and the Korean version of Modified Barthel Index (K-MBI). These measurements were evaluated before and after treatment. Results For each group, 10 patients were recruited. There were no significant differences in baseline characteristics or initial values among the three groups. Two weeks after the therapy, all groups showed significant improvement in MVPT-3, line bisection test, star cancellation test, CBS, MMSE, and K-MBI. However, changes in measurements showed no significant differences among groups. Conclusion Treatment effect of the combined therapy of robotic therapy and low-frequency rTMS therapy for hemispatial neglect was not statistically different from that of each single treatment. Results of this study did not prove the superiority of any of the three treatments. Further study with large number of patients is needed to evaluate the superiority of these treatments. [ABSTRACT FROM AUTHOR]

Objective To investigate the effects of hand training using low-frequency repetitive transcranial magnetic stimulation (rTMS) within the aftereffect period on hand function in patients with subacute stroke. Methods The subacute stroke patients with hand weaknesses were divided randomly into two groups. Patients in the intervention group underwent hand training within the aftereffect period, that is, immediately after receiving low-frequency rTMS treatment. Patients in the control group underwent hand training 2 hours after the lowfrequency rTMS treatment. A manual function test (MFT) for 'grasp and pinch' and 'hand activities'; a manual muscle test (MMT) for 'grasp', 'release', and 'abductor pollicis brevis (APB)'; and the Modified Ashworth Scale for finger flexion were performed and measured before and immediately after combined therapy as well as 2 weeks after combined therapy. Results Thirty-two patients with hand weakness were enrolled in this study. The intervention group patients showed more improvements in grasp MMT and MMT APB tested immediately after combined therapy. However, the changes in all measurements were not significantly different between the two groups 2 weeks after the combined therapy. In both groups, hand functions improved significantly immediately after combined therapy and 2 weeks after combined therapy. Conclusion Hand training immediately after low-frequency rTMS showed more rapid improvement in the motor power of hands than hand training conducted 2 hours after low-frequency rTMS. Our results suggest that conducting hand training immediately after low-frequency rTMS could be an improved useful therapeutic option in subacute stroke patients. [ABSTRACT FROM AUTHOR]

Objective To evaluate the effect of caregiver driven robot-assisted in-ward training in subacute stroke patients. Methods A retrospective evaluation was performed for patients treated with caregiver driven robot-assisted inward training to retain gait function from June 2014 and December 2016. All patients received more than 2 weeks of caregiver driven robot-assisted in-ward training after undergoing conventional programs. The robot was used as a sitting device, a standing frame, or a high-walker depending on functional status of the patient. Patients were evaluated before and after robot training. Patient records were assessed by Korean version of Modified Barthel Index (K-MBI), Functional Independence Measure (FIM), and Functional Ambulation Category (FAC). Results Initially, patients used the robot as a sitting device (n=6), a standing frame (n=7), or a partial body-weight support high-walker (n=2). As patient functions were improved, usage level of the robot was changed to the next level. At the end of the treatment, the robot was used as a sitting device (n=1), a standing frame (n=6), or highwalker (n=8). Scores of K-MBI (Δ17.47±10.72) and FIM (Δ19.80±12.34) were improved in all patients. Conclusion Patients' usage level of the robot and functional scores were improved. Therefore, performing additional caregiver driven robot-assisted in-ward training is feasible and beneficial for subacute stroke patients. [ABSTRACT FROM AUTHOR]

Objective To demonstrate the usefulness of early videofluoroscopic swallowing study (VFSS) and to investigate change patterns in dietary methods in stroke patients with dysphagia. Methods The VFSS was performed within 7 days of stroke onset in neurologically stable patients. The patients were divided into three groups according to type of brain lesion: cortical lesion (CL), subcortical lesion (SCL), and brainstem/cerebellar lesion (BCL). Based on the VFSS results, this study investigated change patterns in feeding method and discrepancies in the aspiration risk predicted by the Water Swallowing Test (WST) and the VFSS. Complications, such as aspiration pneumonia, were also evaluated. Results A total of 163 patients met the inclusion criteria and the VFSS was performed within 7 days of stroke. Patients considered at risk for aspiration (Penetration-Aspiration Scale [PAS] scores of 6 to 8) were found in all three groups using the VFSS (47.5% of the CL group, 59.3% of the SCL group, and 47.9% of the BCL group). After early VFSS, 79.7% of the patients were assessed to require restricted feeding methods. A 19.0% discrepancy was found between the WST and VFSS results. At 3-week follow-up after the VFSS, aspiration pneumonia was observed in 12 patients (7.4%) with restricted feeding methods. Conclusion Early VFSS during the acute period can facilitate determination of the most appropriate feeding method, and support effective dysphagia management for stroke patients. [ABSTRACT FROM AUTHOR]

Objective To determine the effects of combining robot-assisted game training with conventional upper extremity rehabilitation training (RCT) on motor and daily functions in comparison with conventional upper extremity rehabilitation training (OCT) in stroke patients. Methods Subjects were eligible if they were able to perform the robot-assisted game training and were divided randomly into a RCT and an OCT group. The RCT group performed one daily session of 30 minutes of robotassisted game training with a rehabilitation robot, plus one daily session of 30 minutes of conventional rehabilitation training, 5 days a week for 2 weeks. The OCT group performed two daily sessions of 30 minutes of conventional rehabilitation training. The effects of training were measured by a Manual Function Test (MFT), Manual Muscle Test (MMT), Korean version of the Modified Barthel Index (K-MBI) and a questionnaire about satisfaction with training. These measurements were taken before and after the 2-week training. Results Both groups contained 25 subjects. After training, both groups showed significant improvements in motor and daily functions measured by MFT, MMT, and K-MBI compared to the baseline. Both groups demonstrated similar training effects, except motor power of wrist flexion. Patients in the RCT group were more satisfied than those in the OCT group. Conclusion There were no significant differences in changes in most of the motor and daily functions between the two types of training. However, patients in the RCT group were more satisfied than those in the OCT group. Therefore, RCT could be a useful upper extremity rehabilitation training method. [ABSTRACT FROM AUTHOR]

Objective To determine the efficacy of a stretching and strengthening exercise program using an upper extremity robot, as compared with a conventional occupational therapy program for upper extremity spasticity in stroke patients. Methods Subjects were randomly divided into a robot-assisted therapy (RT) group and a conventional rehabilitation therapy (CT) group. RT group patients received RT and CT once daily for 30 minutes each, 5 days a week, for 2 weeks. RT was performed using an upper-extremity robot (Neuro-X; Apsun Inc., Seoul, Korea), and CT was administered by occupational therapists. CT group patients received CT alone twice daily for 30 minutes, 5 days a week, for 2 weeks. Modified Ashworth Scale (MAS) was used to measure the spasticity of upper extremity. Manual muscle tests (MMT), Manual Function Tests (MFT), Brunnstrom stage, and the Korean version of Modified Barthel Index (K-MBI) were used to measure the strength and function of upper extremity. All measurements were obtained before and after 2-week treatment. Results The RT and CT groups included 22 subjects each. After treatment, both groups showed significantly lower MAS scores and significant improvement in the MMT, MFT, Brunnstrom stage, and K-MBI scores. Treatment effects showed no significant differences between the two groups. Conclusion RT showed similar treatment benefits on spasticity, as compared to CT. The study results suggested that RT could be a useful method for continuous, repeatable, and relatively accurate range of motion exercise in stroke patients with spasticity. [ABSTRACT FROM AUTHOR]

Purpose: To compare the incidence of overhang between two distinct femoral components and whether there is clinical and radiological benefit of gender-specific implants in short-term follow-up. Materials and Methods: One hundred and four knees in consecutive 66 female patients who underwent primary total knee arthroplasty due to primary osteoarthritis were included in this study. Overhang was measured and recorded in every cut surface of femur with both gender-specific and traditional trial femoral components respectively in every patient. Then, the knees were divided into two groups according to the type of the permanent femoral component they received. Clinical and radiological outcomes were compared between 2 groups at minimum 3 years after operation. Results: Mean follow-up duration was 41.3 months (range, 36 to 50 months). Sixty two knees (59.6%) showed femoral overhang at least in one area with a traditional trial component, while 26 knees (25.0%) did with a gender-specific trial component (p<0.001). In terms of range of motion, Hospital for Special Surgery knee score, radiographic result, patella tilt angle and displacement, no significant difference was observed between two groups. Conclusions: The use of gender-specific implants substantially reduced the incidence of femoral overhang but did not demonstrate any clinical, functional or radiologic benefit in short-term follow-up. [ABSTRACT FROM AUTHOR]

Background: Although graft extrusion is of concern after meniscal allograft transplantation (MAT), the correlation between extrusion and clinicoradiological outcomes remains unclear. Hypothesis: Patients with graft extrusion after MAT have worse clinical outcomes and greater arthritic change than those without graft extrusion. Study Design: Cohort study; Level of evidence, 3. Methods: Forty-three patients underwent MAT between 1999 and 2004. Grafts were classified as either nonextruded (<3 mm) or extruded (≥3 mm) according to 1-year postoperative magnetic resonance imaging (MRI) findings. The mean patient age at the time of surgery was 33.5 years (range, 17-43 years), and themean follow-up period was 5.1 years (range, 3.5-8.3 years). The Lysholm score was used to evaluate knee function. In addition, preoperative and postoperative (final follow-up) measurements were taken to determine the absolute and relative (affected side/normal side) joint space width (JSW) on a standing 45° flexion posteroanterior view. Results: Magnetic resonance imaging at 1 year showed the mean graft subluxation was 3.03±0.872 mm across all patients. Twenty-six knees (60%) were classified as nonextruded and 17 (40%) as extruded. No statistical difference was found between these 2 groups regarding Lysholm score improvement after MAT. Overall, absolute and relative JSWs were slightly narrower postoperatively compared with preoperatively across all patients (mean absolute difference, 0.283 mm; mean relative difference; 4.79%; P<.001). However, extruded and nonextruded knees were similar in terms of absolute (P = .764) and relative (P = .482) JSW after MAT. The amount of extrusion did not correlate with Lysholm score or the relative difference between preoperative and postoperative JSW across all patients or in either group. Conclusion: Joint space width was slightly narrower after MAT. Extrusion had no effect on 5-year clinical or radiological outcomes. [ABSTRACT FROM AUTHOR]

Effect of tension coating on iron loss has been investigated as a function of excitation induction and frequency in thin-gauged 3% silicon steel sheets and iron loss after tension coating has been evaluated by loss separation method. In order to additionally reduce iron loss, tension coating without forsterite base coating was applied on surfaces of the thin grain-oriented sheets. Reduction in total loss due to the tension coating results from combination of hysteresis loss and anomalous loss, but the latter plays a major role in the loss reduction. The coated sheets show a maximum iron loss reduction of 18% at an excitation induction of 1.0 T and an excitation frequency of 60 Hz. [ABSTRACT FROM AUTHOR]

Effects of bulk content of sulfur on final texture and magnetic induction have been investigated in 3% silicon iron strips. Within the tested range of sulfur content from 11 to 92 ppm, too high or low sulfur contents resulted in a poor magnetic induction arising from no or a limited {110} texture. A weak {110} texture at a high sulfur content is due to the prolonged time period of {100} or {111} grain growth. Despite the shortened time period of selective growth of {100} or {111} grains, also the weak {110} texture at a low sulfur content is probably attributed to a weak grain boundary pinning effect of the weakly segregated sulfur. A moderate sulfur content provides an appropriate pinning effect enough to suppress {100} or {111} selective growth, finally resulting in a sharp {110} texture. [ABSTRACT FROM AUTHOR]

Objective To investigate the effect of decreased Skeletal Muscle Index (SMI) and hand grip strength on functional recovery in subacute ambulatory stroke patients. Methods Subacute stroke patients who were referred to the rehabilitation center were recruited. Decreased SMI and hand grip strength were diagnosed according to the Asian Working Group on Sarcopenia. Diagnostic criteria were decreased SMI and decreased unaffected hand grip strength. SMI was measured by bioelectrical impedance analysis. Unaffected hand grip strength was measured with a hand dynamometer. Patients were divided into two groups, decreased group (DG) and not-decreased group (NDG), according to the presence of decreased SMI and hand grip strength. Both groups received conventional stroke rehabilitation for 3 weeks. All patients were evaluated at the baseline and at 3 weeks after treatment. Functional status was evaluated with 4-meter walk test (4MWT), 6-minute walk test (6MWT), Timed Up and Go test (TUG), and Modified Barthel Index (MBI). Results Both groups showed improvement in 4MWT, TUG, and MBI. NDG showed improvement in 6MWT. Comparing improvements between the two groups, NDG showed more improvement in 6MWT and TUG than DG. Conclusion The presence of decreased SMI and hand grip strength had negative effects on functional recovery in subacute ambulatory stroke patients. [ABSTRACT FROM AUTHOR]

Objective To describe the correlation between the functional dysphagia scale and aspiration pneumonia and which characteristics influence the occurrence of aspiration pneumonia in patients with idiopathic Parkinson disease. Methods Fifty-three patients with idiopathic Parkinson disease were prospectively evaluated in this study. Disease severity and functional status were measured by modified Hoehn and Yahr (H&Y) staging, Schwab and England activities of daily living (S-E ADL) scale and Korean version of Mini-Mental State Examination (K-MMSE). Swallowing function was evaluated by the functional dysphagia scale (FDS) and the penetration-aspiration scale (PAS) based on a videofluoroscopic swallowing study. The patients were followed up for 3 months and divided into two groups according to the occurrence of aspiration pneumonia. The correlation between the variables and aspiration pneumonia was analyzed. Results Eight patients of the 53 patients were allocated to the aspiration pneumonia group and 45 patients to the non-aspiration pneumonia group. The patients in the aspiration pneumonia group had significantly higher H&Y staging, and scored lower on S-E ADL scale and K-MMSE. The patients in the aspiration pneumonia group had significantly higher scores on FDS and PAS. A multiple logistic regression analysis showed that the S-E ADL scale and the FDS were associated with the occurrence of aspiration pneumonia in the patients with Parkinson disease. Conclusion Given that the FDS can quantitatively assess the functional problems associated with dysphagia, it can be clinically effective in predicting the occurrence of aspiration pneumonia, and the FDS and the S-E ADL scale could be predictive variables for aspiration pneumonia in patients with Parkinson disease. [ABSTRACT FROM AUTHOR]

Objective: To investigate how much formal caregivers know about caring for stroke patients, and whether they adequately provide it. Methods: Formal caregivers, who worked for stroke patients at 8 hospitals (including 4 university hospitals, 2 rehabilitation hospitals, and 2 convalescent hospitals) participated in this study. The survey was based on a selfreport questionnaire, with 6 categories containing a total of 48 questions about the specific care of stroke patients: the demographic characteristics of the caregivers, bed positioning, the provision of meals, position changes and transfers, the range of motion exercises, and caregiver training. Results: A total of 217 caregivers were surveyed, and they were distributed as follows: 41% came from the university hospitals, 35% came from the rehabilitation hospitals, and 24% came from the convalescent hospitals. The percentages of correct answers were distributed as follows: 64.3% for bed positioning, 74.3% for providing meals, and 62.4% for position change and transfer. The total and subscale scores of the caregivers working at convalescent hospitals were significantly lower than those of the caregivers working at the other types of hospitals (p<0.05). Only 7.8% of the total participants received training on a regular basis. The caregivers obtained most of the information from caregiver associations (58.1%), and the majority of the caregivers (65.4%) were willing to receive training. Conclusion: About one third (33.8%) of caregivers did not have adequate knowledge of how to properly care for stroke patients; in fact, a significant number of caregivers demonstrated inappropriate and insufficient knowledge in several areas. It is assumed that the provision of regular training, by rehabilitation experts, will improve the professionalism and knowledge of the caregivers, and positively affect patient outcomes. [ABSTRACT FROM AUTHOR]

Varying circumstances call for various types of donor hepatectomy. We report here on an unusual type of donor hepatectomy, right posterior segmentectomy. A 46-year-old sister of the recipient was the donor. Her preoperative CT showed that the right anterior portal vein originated from the umbilical portion of the left portal vein. Intraoperative cholangiography revealed that the right posterior hepatic duct joined the common hepatic duct in the extrahepatic area. Right posterior segmentectomy was performed without transfusion in the donor. The postoperative course proceeded favorably in both donor and recipient until postoperative day 41, when the recipient unexpectedly expired as a result of cerebral hemorrhage. The donor was discharged with good liver function. We can conclude that the right posterior segment of the donor can be used as a graft, when the volume of left liver is not enough for both donor and recipient, or the vascular structures favor right posterior segmentectomy. [ABSTRACT FROM AUTHOR]

Charcot‑Marie‑Tooth disease (CMT) is the most common inherited neurological disorder of the peripheral nervous system. The major subtype, CMT type 1A (CMT1A), accounts for ~40% of CMT cases and is characterized by distal muscle atrophy and gait disturbances. Short hairpin (sh) RNA sequences are potentially advantageous therapeutic tools for distal muscle atrophy‑induced gait disturbance. Therefore, the current study focused on the effects of an optimal shRNA injection using the myostatin (mstn) gene inhibition system. shLenti‑Mstn A demonstrated significant suppression of endogenous mstn gene expression (>40%) via RT‑qPCR following direct injection into the gastrocnemius and rectus femoris of the hind limb in C22 mice. The results also reported that shLenti‑Mstn A treatment increased muscle mass and size of the hind limbs compared with mock‑treated mice via measurement of the mass of injected muscles and magnetic resonance imaging study. Furthermore, electrophysiological measurement using a Nicolet Viking Quest device revealed significantly improved compound muscle action potential (CMAP) in shLenti‑Mstn A‑treated mice compared with the mock group (P<0.05) whereas nerve conduction velocity (NCV) showed no difference between groups. The shLenti‑Mstn A treatment directly affected increased muscle regeneration, including mass and size, but not regeneration of peripheral nerve. Additionally, shLenti‑Mstn A treatment significantly enhanced mobility, including locomotor coordination (P<0.01) and grip strength of the hindlimbs (P<0.01). Furthermore, MotoRater analysis using real‑time recording with a high‑speed camera revealed that shLenti‑Mstn‑treated mice exhibited an improved walking pattern in terms of step length, base support and duty factor compared with the mock group. It was hypothesized that treatment with shLenti‑Mstn A may provide a novel therapeutic strategy for improving gait in patients with CMT1A. [ABSTRACT FROM AUTHOR]

Mutations in the optic atrophy 1 gene (OPA1) are associated with autosomal dominant optic atrophy and 20% of patients demonstrate extra-ocular manifestations. In addition to these autosomal dominant cases, only a few syndromic cases have been reported thus far with compound heterozygous OPA1 mutations, suggestive of either recessive or semi-dominant patterns of inheritance. The majority of these patients were diagnosed with Behr syndrome, characterized by optic atrophy, ataxia and peripheral neuropathy. The present study describes a 10-year-old boy with Behr syndrome presenting with early-onset severe optic atrophy, sensorimotor neuropathy, ataxia and congenital cataracts. He had optic atrophy and was declared legally blind at six years old. Electrophysiological, radiological, and histopathological findings were compatible with axonal sensorimotor polyneuropathy. At birth, he presented with a congenital cataract, which has not been previously described in patients with OPA1 mutations. Whole exome sequencing indicated a pair of novel compound heterozygous mutations: p.L620fs*13 (c.1857-1858delinsT) and p.R905Q (c.G2714A). Neither mutation was observed in controls (n=300), and thus, they were predicted to be pathogenic by multiple in silico analyses. The mutation sites were highly conserved throughout different vertebrate species. The patients parents did not have any ophthalmic or neurologic symptoms and the results of electrophysiological studies were normal, suggestive of an autosomal recessive pattern of inheritance. The present study identified novel compound heterozygous OPA1 mutations in a patient with recessive optic atrophy, sensorimotor neuropathy and congenital cataracts, indicating an expansion of the clinical spectrum of pathologies associated with OPA1 mutations. Thus, OPA1 gene screening is advisable in the workup of patients with recessive optic atrophy, particularly with Behr syndrome and cataracts. [ABSTRACT FROM AUTHOR]

Objective To investigate the effectiveness of an upper limb rehabilitation robot therapy on hemispatial neglect in stroke patients. Methods Patients were randomly divided into an upper limb rehabilitation robot treatment group (robot group) and a control group. The patients in the robot group received left upper limb training using an upper limb rehabilitation robot. The patients sat on the right side of the robot, so that the monitor of the robot was located on the patients' left side. In this position, patients could focus continuously on the left side. The control group received conventional neglect treatment, such as visual scanning training and range of motion exercises, administered by occupational therapists. Both groups received their respective therapies for 30 minutes a day, 5 days a week for 3 weeks. Several tests were used to evaluate treatment effects before and after the 3-week treatment. Results In total, 38 patients (20 in the robot group and 18 in the control group) completed the study. After completion of the treatment sessions, both groups showed significant improvements in the Motor-Free Visual Perception Test 3rd edition (MVPT-3), the line bisection test, the star cancellation test, the Albert's test, the Catherine Bergego scale, the Mini-Mental State Examination and the Korean version of Modified Barthel Index. The changes in all measurements showed no significant differences between the two groups. Conclusion This present study showed that the upper limb robot treatment had benefits for hemispatial neglect in stroke patients that were similar to conventional neglect treatment. The upper limb robot treatment could be a therapeutic option in the treatment of hemispatial neglect after stroke. [ABSTRACT FROM AUTHOR]

Background: Mutations in MPV17 cause the autosomal recessive disorder mitochondrial DNA depletion syndrome 6 (MTDPS6), also called Navajo neurohepatopathy (NNH). Clinical features of MTDPS6 is infantile onset of progressive liver failure with seldom development of progressive neurologic involvement.Methods: Whole exome sequencing (WES) was performed to isolate the causative gene of two unrelated neuropathy patients (9 and 13 years of age) with onset of the syndrome. Clinical assessments and biochemical analysis were performed.Results: A novel homozygous mutation (p.R41Q) in MPV17 was found by WES in both patients. Both showed axonal sensorimotor polyneuropathy without liver and brain involvement, which is neurophysiologically similar to axonal Charcot-Marie-Tooth disease (CMT). A distal sural nerve biopsy showed an almost complete loss of the large and medium-sized myelinated fibers compatible with axonal neuropathy. An in vitro assay using mouse motor neuronal cells demonstrated that the abrogation of MPV17 significantly affected cell integrity. In addition, the expression of the mutant protein affected cell proliferation. These results imply that both the loss of normal function of MPV17 and the gain of detrimental effects of the mutant protein might affect neuronal function.Conclusion: We report a novel homozygous mutation in MPV17 from two unrelated patients harboring axonal sensorimotor polyneuropathy without hepatoencephalopathy. This report expands the clinical spectrum of diseases caused by mutations of MPV17, and we recommend MPV17 gene screening for axonal peripheral neuropathies. [ABSTRACT FROM AUTHOR]

Background: Mutations in the Pleckstrin homology domain-containing, family G member 5 (PLEKHG5) gene has been reported in a family harboring an autosomal recessive lower motor neuron disease (LMND). However, the PLEKHG5 mutation has not been described to cause Charcot-Marie-Tooth disease (CMT). Methods: To identify the causative mutation in an autosomal recessive intermediate CMT (RI-CMT) family with childhood onset, whole exome sequencing (WES), histopathology, and lower leg MRIs were performed. Expression and activity of each mutant protein were analyzed. Results: We identified novel compound heterozygous (p.Thr663Met and p.Gly820Arg) mutations in the PLEKHG5 gene in the present family. The patient revealed clinical manifestations of sensory neuropathy. Fatty replacements in the distal lower leg muscles were more severe than in the thigh muscles. Although the symptoms and signs of this patient harboring slow nerve conduction velocities suggested the possibility of demyelinating neuropathy, a distal sural nerve biopsy was compatible with axonal neuropathy. Immunohistochemical analysis revealed that the patient has a low level of PLEKHG5 in the distal sural nerve and an in vitro assay suggested that the mutant proteins have a defect in activating the NF-κB signaling pathway. Conclusions: This study identifies compound heterozygous PLEKHG5 mutations as the cause of RI-CMT. We suggest that PLEKHG5 might play a role in the peripheral motor and sensory nervous system. This study expands the phenotypic spectrum of PLEKHG5 mutations [ABSTRACT FROM AUTHOR]

The interfacial contact area between the fuel and oxidizer components plays an important role in determining the combustion reactivity of nanothermite composites. In addition, the development of compact and reliable ignition methods can extend the applicability of nanothermite composites to various thermal engineering fields. In this study we report the development of a micro-chip initiator with controlled combustion reactivity using concepts usually applied to microelectromechanical systems (MEMS) and simple nanofabrication processes. The nanothermite composites fabricated in this study consisted of aluminum nanoparticles (Al NPs) as the fuel and copper oxide nanoparticles (CuO NPs) as the oxidizer accumulated on a silicon oxide substrate with a serpentine-shaped gold (Au) electrode. The micro-chip initiator rapidly ignited and exploded when minimal current was supplied. The effects of stacking structures of Al and CuO-based multilayers on the combustion properties were systematically investigated in terms of the pressurization rate, peak explosion time, and heat flow. Pressurization rates of 0.004–0.025 MPa μs−1 and heat flows of 2.0–3.8 kJ g−1 with a commonly fast response time of less than 20 ms could be achieved by simply changing the interfacial structures of the Al and CuO multilayers. The controllability of combustion reactivity of micro-chip initiator can be made for general nanothermite composites composed of Al and various metal oxides (e.g. Fe2O3, CuO, KMnO4, etc). The micro-chip initiator fabricated in this study was reliable, compact, and proved to be a versatile platform, exhibiting controlled combustion reactivity and fast response time, which could be used for various civilian and military thermal engineering applications, such as in initiators and propulsion, welding, and ordinance systems. [ABSTRACT FROM AUTHOR]