Effect of levodopa on pathological gait in Dravet syndrome: A randomized crossover trial using three-dimensional gait analysis.

OBJECTIVE: Individuals with Dravet syndrome (DS) exhibit progressive gait disturbance. No quantitative studies have been conducted to evaluate the effectiveness of medication for gait disturbance. Therefore, the aim of this study was to evaluate the effectiveness of levodopa for pathological gait in people with DS using three-dimensional gait analysis (3DGA). METHODS: Nine individuals with DS, ages 6-20 years, participated in a crossover study of levodopa and were randomly assigned to the levodopa precedence or no levodopa precedence group. Levodopa/carbidopa hydrate was prescribed at a dose of 5 mg/kg/day (body weight <60 kg) or 300 mg/day (body weight ≥60 kg). The medication was taken for 4-6 weeks (4-week washout period). 3DGA was performed three times before the study, with and without levodopa. A mixed-effects model was used to evaluate the effectiveness of levodopa. The primary outcome was the change in the Gait Deviation Index (GDI). In addition, spatiotemporal gait parameters, 6-minute walking distance (6MD), and balance were evaluated. The correlation between the effectiveness of levodopa and age or gait performance before starting levodopa was analyzed. RESULTS: Levodopa improved the GDI by 4.2 points, (p = .029), 6MD by 52 m (p = .002), and balance test result by 4.1 mm (p = .011) in participants with DS. No severe adverse events were observed, with the exception of one participant, who exhibited fever and consequently stopped taking levodopa. Levodopa was more effective in younger participants with a higher baseline gait performance. SIGNIFICANCE: Our randomized crossover trial showed that levodopa has the potential to improve gait disturbance in people with DS.

Body composition and motor function in children born large for gestational age at term.

BACKGROUND: This cross-sectional study compared body composition and motor function between children who were born large for gestational age (LGA) and those born appropriate for gestational age (AGA) and to investigate the association between gait quality and other variables. METHODS: Body composition was determined using a bioelectrical impedance analyzer. Motor functions were assessed using one-leg standing time, timed up-and-go test, five times sit-to-stand test, and three-dimensional gait analysis. We compared the results between two groups. We performed multiple regression analysis to evaluate the association between gait deviation index and variables of LGA, fat mass index, and motor functions (adjusted for age and sex). RESULTS: Children aged 6-12 years who were born LGA at term (n = 23) and those who were born AGA at term (n = 147) were enrolled. The LGA group had a higher fat mass index (2.9 vs. 2.2, p = 0.006) and lower gait deviation index (91.4 vs. 95.4, p = 0.011) than the AGA group. On multiple regression analysis, gait deviation index was associated with being LGA and fat mass index. CONCLUSIONS: In school-aged children who were born LGA, monitoring increased fat mass index and decreased gait deviation index could lessen the risk of metabolic syndrome and reduced gait function. IMPACT: Children aged 6-12 years who were born large for gestational age (LGA) at term showed a higher fat mass index and lower gait deviation index than those who were born appropriate for gestational age at term. No significant differences in balance function or muscle strength were observed between groups. On multiple regression analysis, gait deviation index was associated with being LGA at birth and fat mass index. In school-aged children who were born LGA, monitoring increased fat mass index and decreased gait deviation index could lessen the risk of metabolic syndrome and reduced gait function.

Decreased walking efficiency in elementary school children with developmental coordination disorder trait.

OBJECTIVE: To compare walking efficiency, and associated physical function, between children, with and without developmental coordination disorder trait. DESIGN: Cross-sectional study. SETTING: The study was conducted in a Medical and Rehabilitation Center for Developmental Disabilities in Okazaki, Japan. SUBJECTS: The study included 286 children, 6-12 years of age, with and without developmental coordination disorder trait. Developmental coordination disorder trait was defined by a score below the -1 standard deviation on the Japanese version of the Developmental Coordination Disorder Questionnaire. Based on this criterion, 45 children (28 boys) were classified into the developmental coordination disorder trait group and the other 241 (115 boys) in the control group. MEASURES: The following physical function outcomes were measured: single leg stance test; step length variability; and walking efficiency, measured using the 2-min walk test. Logistic regression analysis was used to determine the association between developmental coordination disorder trait and lower walking efficiency and physical function. RESULTS: Compared to the control group, the developmental coordination disorder group showed lower walking efficiency (P = 0.026), higher step length variability (P = 0.047), and shorter single leg stance test (P = 0.001). Developmental coordination disorder was independently associated with walking efficiency (odds ratio, 1.03; 95% confidence interval [CI], 1.001-1.061; P = 0.041) and single leg stance test (odds ratio, 0.99; 95% CI, 0.978-0.996; P = 0.006), but not to step length variability, age, and sex. CONCLUSIONS: Lower walking efficiency increases energy expenditure in children with developmental coordination disorder trait. Interventions to improve walking efficiency could improve the physical function and participation of these children.

Sensing Algorithm to Estimate Slight Displacement and Posture Change of Target from Monocular Images.

Various types of displacement sensors, which measure position changes of object, have been developed depending on the type and shape of the object under measurement, measurement range of the amount of displacement, required accuracy, and application. We are developing a new type of displacement sensor that is image-based, capable of measuring changes in 6DOF (3D position and orientation) of an object simultaneously, and is compact and low-cost. This displacement sensor measures the 6DOF of an object using images obtained by a monocular vision system. To confirm the usefulness of the proposed method, experimental measurements were conducted using a simple and inexpensive optical system. In this experiment, we were able to accurately measure changes of about 0.25 mm in displacement and 0.1 deg in inclination of the object at a distance of a few centimeters, and thus confirming the usefulness of the proposed method.

An increase in relative contribution of compensatory postural adjustments during voluntary movement while standing in adolescents and young adults with bilateral spastic cerebral palsy.

Previous studies have revealed several deficits in anticipatory postural adjustments (APAs) during voluntary movements while standing in individuals with bilateral spastic cerebral palsy (BSCP). However, it remains unclear whether compensatory postural adjustments (CPAs) during movement increase to compensate for APA deficits. We investigated the anticipatory and compensatory activities of postural muscles during voluntary movement while standing in adolescents and young adults with BSCP. The study included seven participants with BSCP with level II on the Gross Motor Function Classification System (GMFCS), seven with BSCP with level III on the GMFCS, and fourteen healthy controls. The participants stood on a force platform and lifted a load under two weight conditions (light and heavy). The electromyographic activities of postural muscles were analyzed at time intervals typical for APAs and CPAs. The percentage of muscle activity in the CPA time epoch against the total muscle activity during the APA and CPA time epochs was higher in the two BSCP groups than in the control group. In the control group, a load-related modulation was observed only in the APA time epoch, whereas in the BSCP-II group, the load-related increase was observed in both the APA and CPA time epochs. No load-related modulations were observed in the BSCP-III group. These findings suggest that adolescents and young adults with BSCP exhibit an increase in the relative contribution of CPAs during voluntary movement and that there exist severity-related differences in the modulation of APAs and CPAs.

Gait characteristics of children with Williams syndrome with impaired visuospatial recognition: a three-dimensional gait analysis study.

Williams syndrome (WS) is a genetically based neurodevelopmental disorder characterized by intellectual disability and impaired visuospatial recognition. The aim of this study was to analyze the gait characteristics of WS children with impaired visuospatial recognition using a three-dimensional gait analysis (3DGA) to clarify the gait adaptation needed to compensate for it. 3DGA was performed in 8 WS children with impaired visuospatial recognition (mean age, 11.8 years) and 9 age-, sex-, height-, and weight-matched controls. Clinical data, fundamental motor tests, and gait variables while walking on a flat surface and walking up a mat were compared between the two groups, and the correlations between variables were analyzed in the WS children. WS children showed impairment of balance function without muscle weakness. In walking on a flat surface, the WS group showed reduced walking speed, short step length, increased variability of step length, increased knee flexion throughout the stance phase, increased horizontal pelvic range of motion (ROM), and a low Gait Deviation Index and a high Gait Profile Score, which are indices of gait quality. In walking up a mat, the WS group showed further reduced walking speed and decreased sagittal hip flexion and ankle dorsiflexion ROM in the swing phase. Impaired balance function was significantly correlated with increased variability of step length and decreased sagittal ankle dorsiflexion ROM in the swing phase. The detailed gait pattern of WS children with impaired visuospatial recognition was presented. These findings show that impaired visuospatial recognition and balance function contribute to gait adaptation.

Relationship between postural stability and fall risk in elderly people with lumbar spondylosis during local vibratory stimulation for proprioception: a retrospective study.

Purpose: Reduced proprioception affects fall risks in elderly people with lumbar spondylosis. The decrease in proprioception in the trunk or lower legs may contribute to a decline in postural stability. We aimed to investigate the association between proprioceptive postural stability and fall risks in elderly individuals with lumbar spondylosis.Materials and Methods: In this retrospective study, the centre-of-pressure displacement was determined in elderly individuals with lumbar spondylosis during upright stance while standing on a Wii Balance Board with their eyes closed (fall-risk group, n = 55; non-fall-risk group, n = 60). Vibratory stimulations at 30 Hz were applied to the lumbar multifidus and gastrocnemius to evaluate the relative contributions of proprioceptive signals used in postural control (relative proprioceptive weighting ratio).Results: Compared with the non-fall-risk group, the fall-risk group displayed a high relative proprioceptive weighting ratio (p = 0.024). Relative proprioceptive weighting ratio (odds ratio, 1.1; 95% confidence interval: 1.004-1.109) was independently associated with fall risks after adjusting for confounding factors. Among variables related to fall risk, the relative proprioceptive weighting ratio was a significant factor (p < 0.035).Conclusion: The fall-risk group of elderly individuals with lumbar spondylosis was dependent on the ankle strategy. The fall risk in elderly people with lumbar spondylosis could be due to over-dependence on the input from muscle spindles in the gastrocnemius.

Correlation between the Gait Deviation Index and skeletal muscle mass in children with spastic cerebral palsy.

[Purpose] This study aimed to identify a simple and useful muscle parameter for use with the Gait Deviation Index in assessment of ambulatory children with unilateral and bilateral spastic cerebral palsy. [Participants and Methods] Twenty-eight patients (aged 6 to 18 years; 16 females and 12 males) participated in this cross-sectional study. Outcome measurements included the Gait Deviation Index, grip strength, 5-repetition chair stand test, upper limb skeletal muscle mass index, and lower limb skeletal muscle mass index. [Results] By multiple regression analysis, significant independent correlations were observed between the Gait Deviation Index and 5-repetition chair stand test and the Gait Deviation Index and lower limb skeletal muscle mass index, but not between the Gait Deviation Index and grip strength or upper limb skeletal muscle mass index. [Conclusion] The Gait Deviation Index was correlated with lower limb muscle mass in children with spastic cerebral palsy. Determination of lower limb muscle mass may be useful gait evaluation.

Light trapping for photovoltaic cells using polarization-insensitive angle-selective filters under monochromatic illumination.

We have proposed a light-trapping concept for photovoltaic (PV) cells under monochromatic illumination with restricted incident angles. We employed a configuration consisting of a shortpass filter (SPF) on the front surface and a diffuse reflector on the rear surface of the cell. The SPF was designed so that it functioned as a polarization-insensitive angle-selective filter. We fabricated 30-80-µm-thick crystalline silicon samples for incident angles changing within 30°, and analyzed the measured results using a ray-trace simulation with the Monte Carlo method. The ratio of the absorbed intensity to the 1064 nm illumination intensity was 0.69-0.85, which was higher than those equipped with antireflection coatings instead of the SPFs by 0.19-0.13. Thus, we have proven the light-trapping concept of the SPF/diffuse reflector configuration for monochromatic illumination. The PV cells could be applied to wireless power supply, in particular from solar-pumped lasers.

Proprioceptive change impairs balance control in older patients with low back pain.

[Purpose] This study aims to determine the specific proprioceptive control strategy used during postural balance in older patients with low back pain (LBP) and non-LBP (NLBP) and to assess whether this strategy is related to proprioceptive decline and LBP. [Subjects and Methods] Pressure displacement center was determined in 47 older persons with LBP and 64 older persons with NLBP during upright stance on a balance board without vision. Gastrocnemius (GS) and lumbar multifidus muscle (LM) vibratory stimulations of 60 and 240-Hz, respectively, were applied to evaluate the relative contributions of different proprioceptive signals (relative proprioceptive weighting ratio, RPW) used in postural control. Age, height, weight, back muscle strength, L1/2 and L4/5 lumbar multifidus cross section area ratio, skeletal muscle mass index, sagittal vertical axis, and Roland-Morris disability questionnaire (RDQ) were evaluated. [Results] Compared with older patients with NLBP, those with LBP showed a lower RPW 240-Hz, lower L4/5 lumbar multifidus cross-sectional area ratio, and a significantly higher age and RDQ. Logistic regression analysis showed that RPW 240-Hz and age were independently associated with LBP, after controlling for confounding factors. [Conclusion] Older patients with LBP decreased their reliance on GS (RPW 240-Hz) proprioceptive signals during balance control.

Favorable Results of Primary Total Hip Arthroplasty With Acetabular Impaction Bone Grafting for Large Segmental Bone Defects in Dysplastic Hips.

BACKGROUND: The aim of the present study was to assess midterm results after acetabular impaction bone grafting (IBG) in primary total hip arthroplasty (THA) for developmental dysplasia of the hip (DDH) with large acetabular segmental defect. METHODS: Primary THA with IBG for DDH with large acetabular segmental defect was performed in 40 hips of 38 patients. The average age was 61.6 years (range: 33-82 years), and the average follow-up period was 7.5 years (range: 3-10.3 years). The Merle d'Aubigné and Postel hip score and complications were assessed. For radiological assessment, postoperative location of the hip rotation center, the socket inclination angle, and the socket center-edge angle were assessed. Kaplan-Meier survival analysis was performed with the end points of any type of reoperation and aseptic acetabular loosening. RESULTS: The mean Merle d'Aubigné and Postel hip score improved from 10.4 points to 16.2 points at the final follow-up. Reoperation was performed in 1 case for acute infection without loosening. In 39 out of 40 hips (97.5%), the center of hip rotation was located beneath the "high hip center." The average socket inclination angle was 39.3° (range: 30°-54°), and the average socket center-edge angle was -11.8° (range: -23° to 9°). Survival rate of acetabular component at 8 years with the end point of any reoperation and of aseptic loosening was 96.6% (95% confidence interval: 89.9%-100%) and 100%, respectively. CONCLUSION: Acetabular IBG represents one of the useful options for restoring a normal hip center and acetabular bone stock in primary THA for DDH with large acetabular defect.

Bone restoration with cemented Exeter universal stem - Three-years longitudinal DEXA study in 165 hips for femur.

BACKGROUND: The pattern of strain distribution in the proximal femur changes following total hip arthroplasty (THA) and decreases in bone mineral density (BMD) occur around the stem following cemented and uncemented THA. We herein prospectively examined changes in BMD for 3 years after THA with a cemented Exeter universal stem. METHODS: One hundred and sixty five hips from 150 patients who underwent unilateral THA were included as a cohort. Our patients included 20 men (20 hips) and 130 women (145 hips) with a mean age of 63.9 years. BMD was measured 2 weeks postoperatively (baseline) and 3, 6 12, 18, 24, 30, and 36 months (3 years) after surgery using dual-energy X-ray absorptiometry (DEXA) on the lumbar spine and proximal femur of the operated side according to the Gruen zone classification. We quantified longitudinal changes in BMD for more than 3 years after surgery and detected several factors which affected these changes. RESULTS: In the first year, BMD in the most proximal femur showed a 5.5% reduction at the lateral side (zone 1) and 13% reduction at the medial side (zone 7), with no significant BMD reductions being observed thereafter. BMD reductions at 3 years were the most apparent at the proximal medial part of the femur (zone 7; -10.3%), while BMD ratio change in zone 1 was over the baseline (+2.9%). Especially in zone 7, the BMD ratio decreased with female, decreases in weight, decreases in height, decreases in BMI, and increases in age at the time of surgery. CONCLUSIONS: Bone restoration is expected with a cemented Exeter universal stem. Male patients, a younger age, a high body weight, being tall, and a high BMI were identified as factors associated with the restoration of BMD in proximal femur.

[A Case of Liver Metastasis of Descending Colon Cancer with a Pathological Complete Response to mFOLFOX6].

A 75-year-old woman presented with right upper quadrant abdominal pain and anorexia. She was diagnosed with descending colon cancer with lymph node and liver metastases. She was treated with preoperative chemotherapy consisting of levofolinate/5-fluorouracil/oxaliplatin (mFOLFOX6). After the completion of 7 courses of chemotherapy, the tumor shrunk remarkably. A left-sided colectomy with radical lymphadenectomy and an extensive posterior segment resection of the liver were performed. Postoperatively, pathological analysis revealed no cancerous cells in the primary tumor, lymph node metastases, or liver metastases. She is currently receiving mFOLFOX6 therapy as adjuvant chemotherapy. In a patient with advanced colon cancer, a complete response of not only the primary tumor but also the lymph node and liver metastases to preoperative chemotherapy is rare. This case demonstrates that mFOLFOX6 therapy is safe and effective as preoperative chemotherapy for advanced colon cancer.

Infective endocarditis presenting initially with ileus complicated by dehiscence of annuloplasty ring.

BACKGROUND: Infective endocarditis (IE) on an annuloplasty ring dehiscence is uncommon after mitral valve repair. CASE PRESENTATION: A 53-year-old man underwent mitral annuloplasty with a 24-mm ring for posterior mitral valve prolapse. He underwent repeat valve repair for recurrent mitral valve regurgitation 4 years later. He was re-hospitalised complaining of vomiting, nausea, general fatigue and left abdominal pain 2 months later, and presented with low-grade fever, leukocytosis and an elevated blood concentration of C-reactive protein. An abdominal computed tomography scan showed multiple embolisms in the liver, kidney and spleen. Transoesophageal echocardiography revealed mitral annuloplasty ring dehiscence and vegetations consistent with IE. The infected annuloplasty ring and vegetations were surgically excised. Blood cultures grew coagulasenegative staphylococcus aureus, consistent with the excised mitral valve histology. The postoperative course was uneventful, without recurrence of IE. CONCLUSIONS: Embolic ileus as initial manifestation of IE is rare and might confuse the diagnosis and delay its management. Gastrointestinal signs and symptoms may be the initial manifestations of systemic embolization from infective endocarditis. Transoesophageal echocardiography effectively identified the presence of vegetations and mitral annuloplasty ring dehiscence.

[A case of polymyositis associated with transverse colon cancer that responded to tumor resection and chemotherapy].

A 72-year-old woman was admitted to our hospital because of muscle weakness and was diagnosed as having polymyositis. Whole-body evaluation revealed advanced transverse colon cancer, and we therefore considered it likely that the patient had paraneoplastic myositis. We performed a curative surgical resection for colon cancer, after which her serum creatine phosphokinase(CPK)level greatly decreased. Steroid therapy was administered postoperatively. However, her CPK levels remained persistently high, even after steroid pulse therapy, and we considered that this was due to steroid-resistance myositis. We administered chemotherapy for colon cancer using 5-fluorouracil plus Leucovorin(5-FU/LV), after which the CPK levels gradually decreased. There have been few previous reports of polymyositis associated with colon cancer and a standard treatment for paraneoplastic myositis has not been established. Most clinicians believe that treatment of the primary tumor may contribute to an improvement of myositis, and in our case, tumor resection and chemotherapy were effective.

Relationship between paraspinal muscle cross-sectional area and relative proprioceptive weighting ratio of older persons with lumbar spondylosis.

[Purpose] The purpose of this study was to examine the relationship between the paraspinal muscle cross-sectional area and the relative proprioceptive weighting ratio during local vibratory stimulation of older persons with lumbar spondylosis in an upright position. [Subjects] In all, 74 older persons hospitalized for lumbar spondylosis were included. [Methods] We measured the relative proprioceptive weighting ratio of postural sway using a Wii board while vibratory stimulations of 30, 60, or 240 Hz were applied to the subjects' paraspinal or gastrocnemius muscles. Back strength, abdominal muscle strength, and erector spinae muscle (L1/L2, L4/L5) and lumbar multifidus (L1/L2, L4/L5) cross-sectional areas were evaluated. [Results] The erector spinae muscle (L1/L2) cross-sectional area was associated with the relative proprioceptive weighting ratio during 60Hz stimulation. [Conclusion] These findings show that the relative proprioceptive weighting ratio compared to the erector spinae muscle (L1/L2) cross-sectional area under 60Hz proprioceptive stimulation might be a good indicator of trunk proprioceptive sensitivity.

Massive bone defect compromises postoperative cup survivorship of acetabular revision hip arthroplasty with impaction bone grafting.

We evaluated 66 acetabular revision arthroplasties using cemented cup with impaction bone grafting (IBG) to detect the extent that bone defect affects the outcome. We defined the maximum acetabular defect distance (MADD), which indicates the greatest depth of the grafted layer. Cup survival analysis with aseptic loosening as the endpoint revealed that the "MADD≤20mm" group showed higher survivorship than the "MADD>20mm" group (95% vs. 74%, P=0.034), and that the simple-wall-defect group (none or one mesh used) showed higher survivorship than the complex-wall-defect group (two meshes used) (96% vs. 73%, P=0.044). A favorable indication for acetabular IBG reconstruction is cases in which those cups can be placed at≤20mm MADD with a simple wall defect.

[A case of mFOLFOX6-induced lactic acidosis in a patient with colon cancer].

Leucovorin calcium, 5-fluorouracil, and oxaliplatin (FOLFOX) therapy is a standard chemotherapy regimen used to treat colorectal cancer. Peripheral nerve disorder and myelosuppression are frequently reported treatment-related adverse events. With modified FOLFOX6 (mFOLFOX6) therapy, adverse events of an altered mental state with reversible posterior leukoencephalopathy and hypoammonemia have been reported, while lactic acidosis is uncommon. We describe a case of mFOLFOX6 - induced lactic acidosis in a 64-year-old man with colorectal cancer who underwent pelvic exenteration following chemotherapy. Postoperative histopathological analysis revealed residual cancer. Following the commencement of mFOLFOX6 therapy, the patient experienced emesis, hiccupping, and an altered mental state. Laboratory testing revealed only severe lactic acidosis, while diagnostic imaging was unrevealing. All symptoms quickly improved upon the administration of intravenous infusion of sodium bicarbonate.

The Relationship between Physical Function and Postural Sway during Local Vibratory Stimulation of Middle-aged People in the Standing Position.

[Purpose] The purpose of this study was to examine the relationship between physical function and postural sway during local vibratory stimulation of middle-aged subjects in an upright position. [Subjects] The subjects were 25 healthy community-dwelling middle-aged people. [Methods] We measured postural sway using a Wii board while vibratory stimulations of 30, 60, or 240 Hz were applied to the subjects' lumbar multifidus or gastrocnemius muscles. Physical function was evaluated by 5-m usual gait speed and grip strength. [Results] Gait speed was strongly correlated to the anteroposterior body sway in the upright position during 30 Hz gastrocnemius muscles vibration (GMV). [Conclusion] Postural sway during 30 Hz GMV was strongly associated with gait speed and showed a posterior displacement. These findings show that the lower leg's response to balance control under 30 Hz proprioceptive stimulation might be a good indicator of declining gait function.

Three-Dimensional Gait Analysis as a Biomarker for GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia.

BACKGROUND: GTP-cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD) typically presents in childhood with dystonic posture of the lower extremities, gait impairment, and a significant response to levodopa. We performed three-dimensional gait analysis (3DGA) to quantitatively assess the gait characteristics and changes associated with levodopa treatment in patients with GTPCH1-deficient DRD. METHODS: Three levodopa-treated patients with GTPCH1-deficient DRD underwent 3DGA twice, longitudinally. Changes were evaluated for cadence; gait speed; step length; gait deviation index; kinematic data of the pelvis, hip, knee, and ankle joints; and foot progression angle. RESULTS: Levodopa treatment increased the cadence and gait speed in one of three patients and increased the gait deviation index in two of three patients. The kinematic data for each joint exhibited different characteristics, with some improvement observed in each of the three patients. There was consistent marked improvement in the abnormal foot progression angle; one patient had excessive external rotation of one foot, another had excessive bilateral internal rotation, and the other had excessive internal rotation of one foot and excessive external rotation of the opposite foot, all of which improved. CONCLUSION: The 3DGA findings demonstrate that the gait pathology and recovery process in GTPCH1-deficient DRD vary from case to case. Changes in the foot progression angle and gait deviation index can enable the effects of treatment to be more easily evaluated.