• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.17-21
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• 2021

Hunter syndrome or mucopolysaccharidosis type II (MPS-II) (OMIM 309900) is a rare lysosomal storage disorder caused by deficiency in the activity of the enzyme iduronate-2-sulfatase. This enzyme is responsible for the catabolism of the following two different glycosaminoglycans (GAGs): dermatan sulfate and heparan sulfate. The lysosomal accumulation of these GAG molecules results in cell, tissue, and organ dysfunction. Patients can be broadly classified as having one of the following two forms of MPS II: a severe form and an attenuated form. In the severe form of the disease, signs and symptoms (including neurological impairment) develop in early childhood, whereas in the attenuated form, signs and symptoms develop in adolescence or early adulthood, and patients do not experience significant cognitive impairment. The involvement of the skeletal-muscle system is because of essential accumulated GAGs in joints and connective tissue. MPS II has many clinical features and includes two recognized clinical entities (mild and severe) that represent two ends of a wide spectrum of clinical severities. However, enzyme replacement therapy is likely to have only a limited impact on bone and joint disease based on the results of MPS II studies. The aim of this study was to review the involvement of joints in MPS II.

• ETRI Journal
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• v.42 no.1
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• pp.78-89
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• 2020

Human activity recognition (HAR) has become effective as a computer vision tool for video surveillance systems. In this paper, a novel biometric system that can detect human activities in 3D space is proposed. In order to implement HAR, joint angles obtained using an RGB-depth sensor are used as features. Because HAR is operated in the time domain, angle information is stored using the sliding kernel method. Haar-wavelet transform (HWT) is applied to preserve the information of the features before reducing the data dimension. Dimension reduction using an averaging algorithm is also applied to decrease the computational cost, which provides faster performance while maintaining high accuracy. Before the classification, a proposed thresholding method with inverse HWT is conducted to extract the final feature set. Finally, the K-nearest neighbor (k-NN) algorithm is used to recognize the activity with respect to the given data. The method compares favorably with the results using other machine learning algorithms.

• Archives of Reconstructive Microsurgery
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• v.24 no.2
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• pp.41-49
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• 2015

Free or pedicled vascularized fibular grafts (VFG) are useful for the reconstruction of large skeletal defects, particularly in cases of scarred or avascular beds, or in patients with combined bone and soft tissue defects. Compared to non-VFG, VEG, which contains living osteocytes and osteoblasts, maintains its own viability and serves as good osteoconductive and osteoinductive graft. Due to its many structural and biological advantages, the free fibular osteo- or osteocutaneous graft is considered the most suitable autograft for the reconstruction of long bone defects in the injured extremity. The traditional indication of VFG is the long bone and soft tissue defect, which cannot be reconstructed using a conventional operative method. Recently, the indications have been widely expanded not only for defects of midtibia, humerus, forearm, distal femur, and proximal tibia, but also for the arthrodesis of shoulder and knee joints. Because of its potential to allow further bone growth, free fibular epiphyseal transfer can be used for the hip or for distal radius defects caused by the radical resection of a tumor. The basic anatomy and surgical techniques for harvesting the VFG are well known; however, the condition of the recipient site is different in each case. Therefore, careful preoperative surgical planning should be customized in every patient. In this review, recently expanded surgical indications of VFG and surgical tips based on the author's experiences in the issues of fixation method, one or two staged reconstruction, size mismatching, overcoming the stress fracture, and arthrodesis of shoulder and knee joint using VFG are discussed with the review of literature.

• Clinical and Experimental Pediatrics
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• v.53 no.11
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• pp.931-935
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• 2010

Juvenile idiopathic arthritis (JIA) is comprised of a heterogeneous group of several disease subtypes that are characterized by the onset of arthritis before the age of 16 years and has symptoms lasting at least 6 weeks. The previous classification of JIA included seven different categories, whereas its current classification was compiled by the International League of the Association for Rheumatology, and replaced the previous terms of "juvenile chronic arthritis" and "juvenile rheumatoid arthritis," which were used in Europe or North America, respectively, with the single nomenclature of JIA. As mentioned above, JIA is defined as arthritis of unknown etiology that manifests itself before the age of 16 years and persists for at least 6 weeks, while excluding other known conditions. The clinical symptoms of JIA can be quite variable. Several symptoms that are characteristic of arthritis are not necessarily diagnostic of JIA and may have multiple etiologies that can be differentiated with careful examination of patient history. The disease may develop over days or sometimes weeks, thereby making the diagnosis difficult at the time of presentation. To make a clinical diagnosis of JIA, the first step is to exclude arthritis with known etiologies. Of note, late treatment due to excessive delay of diagnosis can cause severe damage to joints and other organs and impair skeletal maturation. Therefore, early detection of JIA is critical to ensure prompt treatment and to prevent long-term complications including the likelihood of disability in childhood.

• Steel and Composite Structures
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• v.24 no.3
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• pp.277-285
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• 2017

Single-storey industrial buildings are one of the most often type of structures built among various skeletal framed steel constructions. These metallic buildings offer an exceptional opportunity to minimise the material employed, contributing to a more sustainable construction. In particular, the mansard portal frame is a typology made up of broken beams that involves different lengths and discontinuous slopes. This study aims the weight reduction of the standard mansard portal frame with design purposes by means of varying four parameters: the kink position, the eaves-apex slope, the span and the columns height. In this work, we suggest some guidelines that can improve the economical competitive capabilities of their structural design. In all the cases analysed, the joints of the portal frame are placed over the theoretical non-funicular shape to uniform loads. This allows reducing the bending moment and the shear force, but increasing the axial force. In addition, the performance of mansard and typical pitched portal frames submitted to the same boundary conditions is compared in terms of efficiency in the use of steel. In the large majority of the cases, mansard typologies are lighter than the common pitched frames and, hence, more economical.

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.1
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• pp.31-31
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• 2016

Purpose: To describle clinical features and enzyme activity of Vietnamese patients with Mucolipidosis type II. Methods: Clinical features, laboratory and plasma lysosom enzyme activity by 4 MU-Fluorometric assay was studied from 2014-2015 at the Northern referral center of Pediatrics - National Children's Hospital. Results: 16 cases (7 girls and 9 boys) were diagnosed with I-cell bases on clinical symptoms and enzyme activities studies. Diagnosis age was $5.93{\pm}4.28$ years, onset age was recognised from birth to 4 years (median 1.25) with the feature of joint stiffness and bone deformation. All cases presented with the feature of joint stiffness, chest deformation and kyphoscoliosis; Fifteen cases (93.7%) had coarse facial features. No patients had hepatosplenomegaly on abdominal ultrasound, 5/15 patients had heart valves disease. Enzyme assay showed ${\alpha}$-Hexosaminidase of $1,885.9{\pm}338.7$ (nmol/mg plasma/17 hrs), ${\alpha}$-Iduronate sulfatase of $4,534.8{\pm}1,062.9nmol/mg$ plasma/4 hrs). Conclusion: Mucolipidosis II seriously affected the life of the patients with skeletal deformities, contractures develop in all joints and cardiac involvement.

• Herbal Formula Science
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• v.17 no.2
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• pp.225-231
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• 2009

Heterotopic ossification is often complicated in patients with brain injury. It occurs in the connective tissue of skeletal muscle close to a joint, especially most highly in the hip joint. This study have reported a case of heterotopic ossification in hypoxic brain damage patient due to cardiac attack. Binso-san is known by medication on arthritis. It has an effect on pain control or reduce of swelling in the joints. This study suggest that Binso-san has an improving effect on hip joint affected by Heterotopic ossification.

• Journal of the Korean Society for Precision Engineering
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• v.22 no.6 s.171
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• pp.207-212
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• 2005

The purpose of this work is to develop the FES controller that can cope with the muscle fatigue which is one of the most important problems of current FES (Functional Electrical Stimulation). The feasibility of the proposed FES controller was evaluated by simulation. We used a fitness function to describe the effect of muscle fatigue and recovery process. The FES control system was developed based on the biological neuronal system. Specifically, we used PD (Proportional and Derivative) and GC (Gravity Compensation) control, which was described by the neuronal feedback structure. It was possible to control of multiple joints and muscles by using the phase-based PD and GC control method and the static optimization. As a result, the proposed FES control system could maintain the cycling motion in spite of the muscle fatigue. It is expected that the proposed FES controller will play an important role in the rehabilitation of SCI patient.

• Annals of Rehabilitation Medicine
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• v.42 no.6
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• pp.884-887
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• 2018

We report a female proband carrying a de novo 5q34-q35.2 deletion breakpoint, and review the unique skeletal phenotype and possible genotype related to this mutation. The patient presented with a persistent head tilt and limited head rotation. Non-contrast-enhanced three-dimensional computed tomography of the cervical spine revealed several malformations including a bone cleft in the right pars interarticularis, a bone defect in both C5 lamina and the transverse foramen at C2-C3, agenesis of the right articular process of C5, bony fusion of C4-C5, and subluxation of the craniocervical joints. Several deformities of the cervical spine seen in this patient have not been associated with the 5q deletion. A review of 5q-related mutations suggests that abnormalities associated with MSX2 gene might cause cervical spine abnormalities.

• Transactions of the Korean Society of Mechanical Engineers B
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• v.36 no.11
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• pp.1105-1110
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• 2012

The spine is one of the most important skeletal joints, and it strongly affects the health of the musculoskeletal system. A normal spine has an S-shape, and it is very important to maintain this shape. Recently, spinal diseases such as low back pain have increased rapidly, especially among the elderly. Some of these diseases are caused by congenital spinal disorders and sporting and accident injuries as well as by bad postures. Improper spinal postures could generate excessive disc pressure, which is related to degeneration and pain. Therefore, in this study, we investigated the three-dimensional kinematic parameters of the thoraco-lumbar joint in several bad postures using a motion capture analysis technique. Different bad postures created a significant amount of flexion/extension, side bending, and axial rotation angle compared with neutral postures. Further study is necessary to investigate the disc pressure and ligament force due to the increase in joint rotation from the bad postures.