Verification of criterion-related validity of the evaluation method of postural stability using the frame subtraction method.

It is important to quantify the postural stability. The frame subtraction method can calculate the motions of a subject, and might be easier to implement, with lower costs. However, validity of the evaluation of postural stability using this method have not been validated yet. Therefore, the purpose of this study was to verify criterion-related validity of the frame subtraction scores and the center of pressure (COP) parameters during maintenance of single leg standing. Twenty two healthy young subjects participated in this study. Motion tasks comprised right leg standing with eyes open and closed. The total length of COP displacements (LNG), Root mean square (RMS) area, anterior - posterior (AP) range, medial - lateral (ML) range were recorded using the force plate. Simultaneously, the motion images were acquired with digital video cameras from the front and right sides. After the motion images were analyzed using the frame subtraction method, the frame subtraction scores (maximumsum of the frame subtraction score on each planethe frontal and sagittal planes) were measured. To confirm the validity, Spearman's rank correlation coefficient between the frame subtraction scores and the COP parameters was calculated. The sum of the frame subtraction score on the frontal plane was significantly correlated with all COP displacements in the single leg standing. The result of this study indicated that the frame subtraction method could be applied to the evaluation of balance task with postural sway such as maintenance of single leg standing. The frame subtraction method is low cost and easy owing to its marker-less systems

An Intermediate Level of BMP Signaling Directly Specifies Cranial Neural Crest Progenitor Cells in Zebrafish

The specification of the neural crest progenitor cell (NCPC) population in the early vertebrate embryo requires an elaborate network of signaling pathways, one of which is the Bone Morphogenetic Protein (BMP) pathway. Based on alterations in neural crest gene expression in zebrafish BMP pathway component mutants, we previously proposed a model in which the gastrula BMP morphogen gradient establishes an intermediate level of BMP activity establishing the future NCPC domain. Here, we tested this model and show that an intermediate level of BMP signaling acts directly to specify the NCPC. We quantified the effects of reducing BMP signaling on the number of neural crest cells and show that neural crest cells are significantly increased when BMP signaling is reduced and that this increase is not due to an increase in cell proliferation. In contrast, when BMP signaling is eliminated, NCPC fail to be specified. We modulated BMP signaling levels in BMP pathway mutants with expanded or no NCPCs to demonstrate that an intermediate level of BMP signaling specifies the NCPC. We further investigated the ability of Smad5 to act in a graded fashion by injecting smad5 antisense morpholinos and show that increasing doses first expand the NCPCs and then cause a loss of NCPCs, consistent with Smad5 acting directly in neural crest progenitor specification. Using Western blot analysis, we show that P-Smad5 levels are dose-dependently reduced in smad5 morphants, consistent with an intermediate level of BMP signaling acting through Smad5 to specify the neural crest progenitors. Finally, we performed chimeric analysis to demonstrate for the first time that BMP signal reception is required directly by NCPCs for their specification. Together these results add substantial evidence to a model in which graded BMP signaling acts as a morphogen to pattern the ectoderm, with an intermediate level acting in neural crest specification

Validity of the frame subtraction method in dynamic postural stability

Background The movement of targeted subjects can be calculated using the frame subtraction method. However, the validity of this evaluation method of dynamic postural stability has not been clarified yet. This study aimed to verify the validity of the evaluation method for jump landing using the frame subtraction score based on the ground reaction force (GRF). Methods Twenty subjects performed single-leg jump landing, and their dynamic postural stability index (DPSI), medial-lateral stability index (MLSI), anterior-posterior stability index, and vertical stability index (VSI) were calculated from the GRF. Simultaneously, motion images were captured using digital video cameras in the sagittal and frontal planes. After the motion images were analyzed using the frame subtraction method, the frame subtraction scores in the frontal, sagittal, and combined planes were calculated. To confirm its validity, the relationship between the frame subtraction scores and GRF parameters was investigated using Pearson's correlation analysis. Results The frame subtraction scores in the frontal and combined planes were significantly correlated with the DPSI, MLSI, and VSI (r = 0.46-0.75, P < 0.05). Conclusions Therefore, the frame subtraction method could be applied to the evaluation of dynamic postural stability. Markerless systems are deemed useful in clinical practice

Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient

Mitochondrial trifunctional protein (MTP) deficiency is an autosomal recessive disorder caused by impaired metabolism of long-chain fatty acids (LCFAs). Childhood and late-onset MTP deficiency is characterized by myopathy/rhabdomyolysis and peripheral neuropathy; however, the features are unclear. A 44-year-old woman was clinically diagnosed with Charcot-Marie-Tooth disease at 3 years of age due to gait disturbance. Her activity and voluntary speech gradually decreased in her 40s. Cognitive function was evaluated and brain imaging tests were performed. The Mini-Mental State Examination and frontal assessment battery scores were 25/30 and 10/18, respectively, suggesting higher brain dysfunction. Peripheral nerve conduction studies revealed axonal impairments. Brain computed tomography showed significant calcification. Magnetic resonance imaging revealed an increased gadolinium contrast-enhanced signal in the white matter, suggesting demyelination of the central nervous system (CNS) due to LCFAs. The diagnosis of MTP deficiency was confirmed through genetic examination. Administration of L-carnitine and a medium-chain fatty triglyceride diet was initiated, and the progression of higher brain dysfunction was retarded within 1 year. This patient's presentation was suggestive of CNS demyelination. The presence of brain calcification, higher brain dysfunction, or gadolinium enhancement in the white matter in patients with peripheral neuropathy may be suggestive of MTP deficiency

The updated retrospective questionnaire study of sporadic inclusion body myositis in Japan

Background: Sporadic inclusion body myositis (sIBM) is the most prevalent muscle disease in elderly people, affecting the daily activities. sIBM is progressive with unknown cause and without effective treatment. In 2015, sIBM was classified as an intractable disease by the Japanese government, and the treatment cost was partly covered by the government. This study aimed to examine the changes in the number of patients with sIBM over the last 10 years and to elucidate the cross-sectional profile of Japanese patients with sIBM. Methods: The number of sIBM patients was estimated through a reply-paid postcard questionnaire for attending physicians. Only patients diagnosed as “definite” or “probable” sIBM by clinical and biopsy sIBM criteria were included in this study (Lancet Neurol 6:620-631, 2007, Neuromuscul Disord 23:1044-1055, 2013). Additionally, a registered selfadministered questionnaire was also sent to 106 patients who agreed to reply via their attending physician, between November 2016 and March 2017. Results: The number of patients diagnosed with sIBM for each 5-year period was 286 and 384 in 2011 and 2016, respectively. Inability to stand-up, cane-dependent gait, inability to open a plastic bottle, choking on food ingestion, and being wheelchair-bound should be included as sIBM milestones. Eight patients were positive for anti-hepatitis C virus antibody; three of them were administered interferon before sIBM onset. Steroids were administered to 33 patients (31.1%) and intravenous immunoglobulin to 46 patients (43.4%). From 2016 to 2017, total of 70 patients applied for the designated incurable disease medical expenses subsidy program. Although the treatment cost was partly covered by the government, many patients expressed psychological/mental and financial anxieties. Conclusions: We determined the cross-sectional profile of Japanese patients with sIBM. Continuous support and prospective surveys are warranted

Verification of validity of gait analysis systems during treadmill walking and running using human pose tracking algorithm

Background: The human tracking algorithm called OpenPose can detect joint points and measure segment and joint angles. However, the validity of gait analysis using OpenPose has not been examined yet. Research question: What is the validity of OpenPose-based gait analysis? Methods: Twenty-four healthy young people participated in this study. The participants were assessed during walking and running. Pelvic segment angles, and hip, knee, and ankle joint angles during treadmill walking and running were measured using VICON. Simultaneously, images were captured using digital cameras from the right and back sides. After processing with OpenPose, the corresponding angles were measured from the estimated joint points. To validate these estimations, linear regression analysis was performed, and intraclass correlation coefficients [ICCs (2, 1)] between the data obtained by OpenPose and VICON were calculated. Furthermore, the agreement between the data obtained by OpenPose and VICON was assessed by Bland–Altman analysis. Results: For most ranges of motion (ROM) in the sagittal plane, the hip, knee, and ankle joints had large coefficients of determination, without proportional biases. For most peak angles in the sagittal plane, the knee and ankle joints had large coefficients of determination without proportional biases, although the hip joint had nonsignificant coefficients of determination and proportional biases. In particular, for the hip flexion-extension ROM and peak knee flexion angle during running and the knee ROM during slow walking, the ICCs showed good to excellent agreement. However, for the parameters of the pelvis and hip joint in the frontal plane, there were nonsignificant coefficients of determination and poor ICCs with fixed and proportional biases. Significance: The lower limb ROM in the sagittal plane during gait can be measured by the OpenPose-based motion analysis system. The markerless systems have the advantage of being more economical and convenient than conventional methods

Verification of reliability and validity of motion analysis systems during bilateral squat using human pose tracking algorithm

Background: The human tracking algorithm called OpenPose can detect joint points and calculate joint angles. However, the reliability and validity of OpenPose have not been clarified yet. Research question: Are there the enough reliability and validity of OpenPose based motion analysis? Methods: 20 healthy young subjects participated in this study. The motion task was a bilateral squat. The joint angles of the trunk, hip, knee, and ankle were calculated using OpenPose and VICON. Kinematic measurements by three-dimensional motion analysis devices were recorded using VICON. Simultaneously, the images were taken with a digital camera from the right side. After the images were processed with OpenPose, joint angles were calculated from estimated joint points. To confirm the test-retest reliability within device, intraclass correlation coefficients [ICC (1, 3)] were calculated. To confirm the validity, linear regression analysis and ICC (2, 1) between the data obtained by OpenPose and VICON were calculated. Furthermore, the agreement between the data obtained by OpenPose and VICON was assessed by Bland-Altman analysis. Results: ICCs (1, 3) of the data obtained by OpenPose and VICON were almost perfect. There were significant associations between the data obtained by OpenPose and VICON. ICCs (2, 1) between the data obtained by OpenPose and VICON were almost perfect or substantial for trunk, knee and ankle joints, and fair on the hip joint. There were fixed biases on knee and ankle joints, and proportional biases on trunk and hip joint. Significance: OpenPose based motion analysis is reliable and has the advantage of being low cost and easier to operate than conventional methods. In future, to consider the clinical utility of OpenPose, it is necessary to identify the error between the true values indicating actual joint movement and data obtained by OpenPose with its correction for fixed and proportional biases