• Journal of Genetic Medicine
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• v.15 no.2
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• pp.97-101
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• 2018

Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.

• PNF and Movement
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• v.11 no.1
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• pp.63-68
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• 2013

Purpose : The purpose of this study was to examine changes in spatiotemporal gait parameters(STGPs) in healthy adults before and after a immediate intervention of a Mulligan taping program(MTP). Methods : A total of 12 healthy adults(mean age, 20.82 years; age range, 19-24 years) participated in the study. performance was assessed by recording changes in the STGPs using GaitRite. comparisons of changes in the STGPs at pre-intervention and at dischange were analyzed using the Wilcox signed rank test and Mann-Whithney U test. Results : There was a significant improvement in the outcome measures of STGPs(stride length, velocity) after immediate of MTP(p<0.05). However, no significant different pre-test and post-test step width, toe angle(p>0.05). Conclusion : Participants in a MTP improves STGPs, thereby increasing the ability of healthy adults to maintain gait. MTP appears to be a safe and efficacious, noninvasive treatment modality for patients with knee joint disease.

• Proceedings of the PSK Conference
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• 2003.10b
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• pp.235.1-235.1
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• 2003

With an aim of obtaining high efficacy in cartilage regeneration, implantable polymeric rods were fabricated. These rod-type matrices were anticipated to perform structural tissue supporting activity and enhance extracellular matrix (ECM) formation by releasing specific agent, DHEA-S, in controlled manner. It is expected that application for the drilling operation on the articular cartilage of OA patients as the implants may promote regeneration of their cartilage. Osteoarthritis (OA) is a degenerative joint disease characterized by progressive loss of articular cartilage, subchondral bone remodeling, spur formation, and synovial inflammation. (omitted)

• The Journal of the Korean bone and joint tumor society
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• v.18 no.2
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• pp.59-65
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• 2012

Purpose: Multidisciplinary approaches of surgical resection and chemotherapy have been widely used for the treatment of non-metastatic osteosarcomas. We aimed to assess the effect of neoadjuvant chemotherapy for metastasis and disease-specific survival. Materials and Methods: Authors retrospectively reviewed 225 young (<30 years old) and non-metastatic osteosarcoma patients who underwent surgical resection and postoperative chemotherapy between February 1984 and July 2010. Mean age was 14.4 years old (ranged: 4-29 years old) and average follow-up period was 9.1 years (2-28 years). The patients were divided into two groups according to the application of preoperative chemotherapy. Both groups were compared with clinical characteristics, metastasis-free survival and disease-specific survival. Results: All of 225 patients, 32 patients were treated with postoperative chemotherapy and 193 patients were performed preoperative and postoperative chemotherapy. Postoperative chemotherapy group showed significantly high rate of amputation (p<0.001). Metastasis was occurred in 101 patients. Postoperative chemotherapy group indicated significant higher rate of metastasis (69% vs 41%, p=0.004) and early development of metastasis (mean: 11.5 vs 20.3 months, p=0.045) than pre-and postoperative chemotherapy group. Fifty-seven patients were died of osteosarcoma. Postoperative chemotherapy group revealed significant lower rate of 5-year disease-specific survival than pre-and postoperative chemotherapy group (51% vs 84%, p=0.001). Adult (>15 years) and large sized tumor (>8 cm) were meaningful risk factors of metastasis and disease-specific survival. Although, local recurrences were occurred in 13 patients, there was no significant difference. Conclusion: Neoadjuvant chemotherapy offers better disease-specific survival and metastasis-free survival.

• Journal of the Korea Convergence Society
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• v.12 no.11
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• pp.359-369
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• 2021

In this study, a complex sample logistic regression analysis was performed to identify the factors affecting the activity restriction of 2,701 normal elderly and chronically ill elderly aged 65 and over using raw data from the 8th period of the National Health and Nutrition Examination Survey. It was found that the elderly with chronic disease felt more restricted in their activities than the normal elderly. Activity limiting factors in stroke and hypertension patients are subjective health status, economic level, stress perception, and moderate-intensity work and leisure. The factors limiting activity in patients with heart disease were subjective health status and economic level, and factors limiting activity in patients with joint disease were subjective health status and high-intensity work and leisure. Activity limiting factors for lung disease patients are education level, high intensity work and leisure, and endocrine system activity limiting factors include subjective health status, stress perception, high intensity work and leisure, and activity limiting factors for cancer patients. is subjective health status, stress perception, moderate-intensity work and high-intensity leisure. Rehabilitation programs and policy support are needed for the continuous participation of the elderly with chronic diseases.

• IMMUNE NETWORK
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• v.1 no.3
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• pp.244-249
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• 2001

The transforming growth $factor-{\beta}$ ($TGF-{\beta}$) is a multifunctional cytokine modulating the onset and course of autoimmune disease as shown in experimental models. In synovial inflammation, there is a potential role for $TGF-{\beta}$ in repairment, the inhibition of cartilage and bone destruction, and the down-regulation of immune response. The biologic effects of $TGF-{\beta}$ depend on the cell type, the isoform and the availability of active $TGF-{\beta}$. We investigated $TGF-{\beta}$ expression in patients with rheumatoid arthritis (RA) and compared to those of osteoarthritis (OA). And we determined a correlation between $TGF-{\beta}1$ and $TGF-{\beta}2$, and also the relationships between each $TGF-{\beta}$ isoform and the parameters for disease activity of RA. Methods: The study population consisted of 20 patients with RA and 20 patients with OA. The commercial ELISA kit was used to study $TGF-{\beta}1$ and $TGF-{\beta}2$ levels in peripheral blood (PB) and synovial fluids (SF). Results: 1) While PB $TGF-{\beta}1$ level was of no difference between RA and OA patient groups, SF $TGF-{\beta}1$ level was higher in RA group than OA group. Similarly, PB $TGF-{\beta}2$ levels of RA and OA groups was not different, but SF $TGF-{\beta}2$ levels was higher in RA group than OA group. 2) In patients with RA, the $TGF-{\beta}1$ levels were higher than $TGF-{\beta}2$ in both the PB and SF, while in patients with OA, there showed higher readings for $TGF-{\beta}1$ than $TGF-{\beta}2$ in SF but no difference between $TGF-{\beta}1$ and $TGF-{\beta}2$ levels in PB. 3) In patients with RA, there were no correlations between PB $TGF-{\beta}1$ and PB $TGF-{\beta}2$ levels, nor between SF $TGF-{\beta}1$ and SF $TGF-{\beta}2$ levels. At the same way, there was no correlation between PB $TGF-{\beta}1$ and SF $TGF-{\beta}1$ levels, nor between each levels of $TGF-{\beta}2$ in patients with RA. 4) There was also no correlation between each $TGF-{\beta}$ isoform and the parameters for disease activity such as ESR, CRP, tender joint count, swollen joint count, rheumatoid factor, and the duration of morning stiffness except between in PB $TGF-{\beta}1$ and disease duration of RA (r=0.637, p<0.01). Conclusion: Each $TGF-{\beta}$ isoforms were higher in synovial fluid of patients with RA than that of patients with OA. The data from the RA patients demonstrated different patterns of expressions of the isoforms depending on which compartment (PB or SF) was investigated. The quantification of different $TGF-{\beta}$ isoform is thought to be important when $TGF-{\beta}$ is measured under disease conditions of RA.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.24-33
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• 2016

Mucopolysaccharidosis type VI (MPS VI) is a rare disease caused by the mutation of ARSB with prevalence range from 1/5,000 in northeast Brazil to 1/2,057,529 births in Czech Republic. In Asia, there is only one published figure in Taiwan of about 1/833,000 births. The exact prevalence in the Korean population is unknown, but we estimated the incidence of MPS VI is about 0.03/100,000 live births. Enzyme replacement therapy (ERT) with recombinant human Arylsulfatase B (rhASB) is a modality for the treatment of MPS VI that reduces the excretion of urine glycosaminoglycan (GAG) and improves joint motion, pulmonary function, and endurance. We presented the clinical features, molecular analysis and outcome of ERT in three Korean MPS VI patients. All patients had the typical characteristic clinical features of MPS IV. Short stature, dysostosis multiplex, corneal opacity and valvular heart disease were found at first presentation, while restrictive lung disease and carpal tunnel syndrome developed later in all patients. Molecular analysis demonstrated novel missense and nonsense mutation in the patients, including p.Ile 67Ser, p.Gly328Arg, $p.Arg191^*$, p.Asp352Asn, and p.Gly17Asp. After ERT, urine GAG was decreased in all patients. Skeletal involvement, corneal opacity, heart valve abnormalities and pulmonary function were not improved with ERT, but it had a better outcome on regarding joint motion and endurance. One patient underwent allogeneic bone marrow transplantation (BMT) prior to ERT, but their clinical response was not improved much after BMT. This study demonstrates clinical phenotypes and molecular analysis of the severe form of MPS VI in Korean patients.

• Journal of muscle and joint health
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• v.5 no.2
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• pp.238-252
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• 1998

Reumatic arthritis is a disease with joint pain being one of the key symptoms. The patient suffers from the pain, stiff sensation and edema due to the inflammation taking Place In one or more joints. Accompanying these problems are fatigue, unusual exhaustion, fever, tachycardia and weakness. Inaddition, joints are often deformed and muscles shrink along with the progress of edema, coupled with depression and psychological instability resulting from the loss of the mobile function and limitations on the daily life. Some patients become fed up with the long and hard flight with the disease and just give up, which aggravates the symptoms. Others come to the hospital only when the conditions have become serious. We need to prevent these and guide the patients in the right direction. Against this backdrop, this study aims to look into the relations between the knowledge on the part of the patients together with their feeling of self-efficacy and the compliance. The results are expected to help the patients improve their life, In addition to providing useful materials for setting up appropriate plan for nursing intervention. The study was conducted by distributing questionnaire to 88 patients selected from the out-patient department of a university hospital in Inchon, from April 6 to 27, 1998. The following tools were used the yardstick of self-efficacy, developed in 1997 by the Society for the Health of Rheumatism Patients, was used for measuring the levels of knowledge and the feeling of self-efficacy. The degree of compliance was measured by the data collected from documents in addition to the results of the analysis of the interviews with the patients. The reliability of the tools was confirmed. In the analysis, the general characteristics were expressed in figures and percentages. The levels of knowledge, feeling of self-efficacy, and compliance were expressed in the average values and standard deviations. The relations among the variables following the general characteristics were analysed by the t-test and one-way ANOVA. The Pearson correction coefficient was used for the analysis of factors. Multiple-loop analysis was used to identify the variables affecting the compliance. The following are the results of this study. 1. Among the 88 patients, 18 were men and the remaining 70 were women, with a ratio 1 : 3.87. Regarding the age groups, 23 were between 50 and 59 years old, with those between 50 and 69 accounting for 51.1% of the total. High school graduates or higher amounted to 58%. Religious patients was 67% or 59 persons. Fifty nine percent were unemployed, and 58.3% (49 persons) had two children or fewer. The period of suffering from rheumatism varied between 2 months and IS years, with 70% less than years. 2. The average figure In relation to the of knowledge was 17.63 points over 30 or 58. 76%, which means a medium level. 3. The average figure of the feeling of self-efficacy was 60.06 points. 4. The level of compliance was 3.26, which was above average. 5. The relation between the feeling of self-efficacy and compliance showed an "r" value of 0.37, which was significant. It means that the higher the feeling, the greater the compliance points. 6. The analysis of the knowledge level revealed that the difference is found only between the college graduates and junior-high graduates or lower. 7. The feeling of self-efficacy varied along with the age and education level. 8. The general characteristics of patients as discussed above did not show significant difference with the compliance. 9. Regarding the elements influencing the compliance, the number of children, period of suffering, income, age, feering of self-efficacy, knowledge, and compliance had 54% of significance. In conclusion, rheumatism victims can lead a better life if they are appropriately educated, based on efficient training program from the early days of the disease ; if they become able to manage themselves thanks to the training ; and if they are helped by a program focusing on the increase of the feeling of self-efficacy aimed at changing patient's behavior.

• Journal of Korean Medicine Rehabilitation
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• v.19 no.1
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• pp.57-71
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• 2009

Objectives : The aim of this study was to know the immunity reponse of Esubwhaltong-tang(hereafter referred to ESWTT) to rheumatoid arthrits in CIA(collagen induced arthritis) mice. Methods : For this purpose, ESWTT was orally administerd to mice with arthritis induced by collagen II and then value of immunocyte in paw joint, cytokine(IL-6, $TNF-{\alpha}$), rheumatoid factor(IgG and IgM) and collagen II specific antibody in the serum were measured. Results : 1. The cytotoxicity was not shown on hFLSs and liver. 2. Marginal erosion, necrotic chodrocytes, cartilage and bone degradation were improved in histological section of paw joints from CIA mice(ESWTT extract administration group). 3. Total cell number of paw joint in CIA mice(ESWTT extract administration group) was decreased significantly. 4. The absolute number of CD3+, CD3+/CD69+, CD4+, CD4+/CD25+, CD49b+, CD3+/CD49b+ cells in CIA mice(ESWTT extract administration group) were decreased significantly. 5. The levels of IL-6 and $TNF-{\alpha}$ in the serum of CIA mice(ESWTT extract administration group) were decreased significantly. 6. The levels of total IgG and IgM in the serum of CIA mice(ESWTT extract administration group) were decreased significantly. 7. The level of collagen II specific antibody in the serum of CIA mice(ESWTT extract administration group) was decreased significantly. Conclusions : Comparison of the results for this study showed that ESWTT had immunomodulatory effects of suppressing. So we expect that ESWTT could be used as an effective drugs for not only rheumatoid arthritis but also auto-immune disease.

• Journal of Oral Medicine and Pain
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• v.45 no.1
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• pp.12-16
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• 2020

Chronic otitis media (COM) is a chronic inflammatory disease which affects the middle ear, mastoid cavity. It presents hearing loss, ear pain, dizziness, headache, temporomandibular joint (TMJ) inflammation and intracranial complication. Intracranial complications such as skull base osteomyelitis (SBO) may occur secondary to COM due to transmission of infection by a number of possible routes. SBO is an uncommon condition with a significant morbidity and mortality if not treated in the early stages. We report a-67-year-old male patient with diabetes and untreated COM who presented atypical severe TMJ, periorbital and postmandibular pain. By computerized tomography (CT), magnetic resonance imaging (MRI) and whole body bone scan (WBBS), he was diagnosed with SBO spreading from untreated COM via infective arthritis of TMJ. Through this case, we suggest proper utilization of diagnostic imaging, especially CT or MRI for the early detection of SBO in the case of COM accompanying with the greater risk of infection developments such as diabetes.