• Journal of Genetic Medicine
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• v.19 no.1
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• pp.32-37
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• 2022

Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase B due to mutations in the ARSB gene. Here, we report the case of a Korean female with a novel variant of MPS VI. A Korean female aged 5 years and 8 months, who is the only child of a healthy non-consanguineous Korean couple, presented at our hospital for severe short stature. She had a medical history of umbilical hernia and recurrent otitis media. Her symptoms included snoring and mouth breathing. Subtle dysmorphic features, including mild coarse face, joint contracture, hepatomegaly, and limited range of joint motion, were identified. Radiography revealed deformities, suggesting skeletal dysplasia. Growth hormone (GH) provocation tests revealed complete GH deficiency. Targeted exome sequencing revealed compound heterozygous mutations in the ARSB genes c.512G>A (p.Gly171Asp; a pathogenic variant inherited from her father) and c.1157C>T (p.Ser386Phe; a novel variant inherited from her mother in familial genetic testing). Quantitative tests revealed increased urine glycosaminoglycan (GAG) levels and decreased enzyme activity of arylsulfatase B. While on enzyme replacement therapy and GH therapy, her height increased drastically; her coarse face, joint contracture, snoring, and obstructive sleep apnea improved; urine GAG decreased; and left ventricular mass index was remarkably decreased. We report a novel variant-c.1157C>T (p.Ser386Phe)-of the ARSB gene in a patient with MPS VI; these findings will expand our knowledge of its clinical spectrum and molecular mechanisms.

• Journal of the Korean Society of Physical Medicine
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• v.18 no.1
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• pp.9-14
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• 2023

PURPOSE: This study examined the effect of vibration stimulation of a vibration foam roller on the change in the range of motion of the ankle joint and proprioception in patients with chronic ankle instability. An additional aim was to provide basic data for rehabilitation programs for chronic ankle instability patients. METHODS: This study was a randomized crossover design of 22 patients with chronic ankle instability. All subjects were divided into a vibrating group, a non-vibrating group, and a control group. The vibration and non-vibration groups performed the interventions, but the control group did not. For the measurement, the range of motion and proprioception of the ankle joint was measured using an electronic protractor (Electrogoniometer, BPM Pathway, UK). RESULTS: The vibration group showed significant differences in the dorsiflexion angle, dorsiflexion proprioception, and plantar flexion proprioception (p < .05). The non- vibration group showed significant differences in the dorsiflexion angle and dorsiflexion proprioceptive sensation (p < .05). The vibration group and the control group showed significant differences in dorsiflexion proprioception and plantar flexion proprioception (p < .05). CONCLUSION: The range of motion and proprioception of the ankle joint were improved in the group that received vibration stimulation after the intervention than before the intervention. Future research will be needed on patients with various diseases.

• Investigative Magnetic Resonance Imaging
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• v.10 no.2
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• pp.63-69
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• 2006

Purpose : Marrow edema and fatty degeneration of the hip joint bones could be initial and late signs in hip joint and its bone diseases respectively, which might be differentiated from age-related marrow conversion pattern. So authors have investigated normal marrow conversion pattern of the femur and acetabulum around the hip joints. Materials and methods : Three coronal MR images of 288 hip joint bones in 144 subjects, aged 2 days to 76 years divided to 8 groups every 10 years, were retrospectively analysed for the location and appearance of the converted yellow marrow. The converted yellow marrow were divided to head, neck, and trochanter in the proximal femur and below and above 50% in acetabulum of the hip. Results : The most common type of marrow conversion is the converted yellow marrow in the entire proximal femur and below 50% of acetabulum of the hip. We observed the start of marrow conversion in just before and after 2 years old and stopped at just before and after 20 years old. Conclusion : The understanding of age-related marrow conversion pattern of the hip joint bones would provide some information for differentiation from pathologic condition of them such as edema, fatty degeneration, metastasis, or leukemia.

• The korean journal of orthodontics
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• v.23 no.4 s.43
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• pp.455-474
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• 1993

Degenerative joint disease(DJD) has hun known as one of the diseases which affect the middleor old-aged people. But as orthodontists are getting interested in the adult orthodontics, it is not rare for them to meet the open-bite patients with the TMJ DJD in their clinics. The purpose of this article is to investigate the cephalometric characteristics of the open-bite cases with TMJ DJD. Twelve TMJ DJD patients($15.1\~39.5$ years old) were selected from the patients who visited Department of Orthodontics, Seoul National University Hospital. Cephalograms were taken and means from 60 measurements were compared by t-test with those of the fifty four healthy adults($20.0\~26.7$ years old) who have normal occlusion and TMJ. In this study male and female are compared respectively, for in the normal samples 26 measurements showed significant differences between the male and the female. The results and conclusions axe as follows: 1 In DJD group, ANB and Angle of convexity decreased, which means the retruding of the mandible. The interincisal angle was smaller than that of the normal group. The means of the overbite were -2.1mm in male and -3.0mm in female, and the means of the overjet were 5.6mm in male and 6.7mm in female. The profile was similar to that of Angle's Class II div.1 open-bite. 2. SN-GoMe and FMA increased in DJD but SN-PP and FH-PP did not show any significant difference. In TMJ DJD open-bite cases, the bony structure lower than the palatal plane seemed to play an important role in developing open-bite. 3. In DJD group, PH-ArGo, SArGo and Y-sxis angle increased significantly, but genial angle showed no significant difference. The means of hか were 50.1mm in male and 40.2mm in female, which were significantly smaller than those of the normal(56.5mm in male, 50.9mm in female). These findings seemed to indicate the posterior rotation of mandible resulted from the shortening of the ramus height. 4. Anterior faical height(AFH), upper anterior facial height(UAFH) and lower anterior facial height (LAEH) of DJD showed no significant increase as compared with those of the noraml group. There was no significant difference in the ratio of upper anterior facial height to lower anterior facial height(UAFH/LAFH). But, lower posterior facial height(LPFH) was significantly smaller than that of the normal group. 5. It was thought that the peculiar profile of the TMJ DJD open-bite was resulted from the posterior rotation of mandible as the ramus became short following the degerative destruction of of the condylar head and neck.

• The Journal of Korean Academy of Prosthodontics
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• v.31 no.2
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• pp.249-270
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• 1993

For understanding of anatomy, physiology, and diseases of human TMJ, it is required to evaluate quantitatively the movement of the disc and condyle head of mandible. The histologic section of cadaver TMJ were examined, and the magnification of the MR image and its details of anatomy were evaluated. And then a quantitative analytic method, by comparing the Sectograph and the MR image of vital human TMJ, was proposed. For this study, 15 subjects(Male, 24~35years) were selected from a prosthodontic examination randomly, and each subject’s five interocclusal rubber registration records were made on the ICP, and 5, 10, 15, and 20mmjaw opening positions. All subjects were radiographed with a Denar Quint Sectograph Image System(Denar Corp., USA), and imaged with a MRP-20EX MR Image System(0.2T, Permanent Magnet Type, Hitachi Medical Corp., Japan) using an 100mm diameter bilateral type surface coil. These images were traced on the acetate tracing paper, and analyzed In this study, the findings led to the following conclusions. 1. In comparison of the histologic section of autopsy specimen with the MR image at the same section, the size(dimension) of MR image was 70% of the real one. It was possible to recognize the shape of articular disc, anterior and posterior attachments, and adjacent soft tissues, because of the excellent reproducibility of anatomical structure. 2. When we compared the amount of joint space on MR image with that of joint space on sectograph, the amount of joint space on sectograph was significantly greater than that of joint space on MR image, except at the top of condylar head. 3. The position of minimum joint space on sectograph at intercuspal position didn't coincide with the middle position of articular disc on MR image, and was approximately in the anterior third of posterior band of articular disc. 4. The amount of condylar movement on MR image at opening movement was greater than that of articular disc movement. From Intercuspal position to 5mm jaw-opening movement, the condylar movement showed hinge one, and over the range 5mm jaw-opening it suggested hinge & translatory one. 5. In terms of area variation of articular disc measured on MR image in sagittal plane, the area of posterior band increased with increasing the amount of Jaw opening, but the area of anterior band decreased conversely.

• CELLMED
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• v.6 no.3
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• pp.21.1-21.15
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• 2016

In Kenya, traditional knowledge on herbal medicine has remained a mainstream source of maintaining wellbeing for generations in many communities. However, the knowledge has been eroded in the course of time due to sociocultural dynamics virtually advanced by Christianity and formal education especially in the Kikuyu community. The study documented current ethnobotanical knowledge and threat to the traditional knowledge on medicinal plants among the Kikuyu community. A survey was carried out in Mathira, Tetu, Kieni, Othaya, Mukurweini, and Nyeri Town constituencies. Thirty practicing herbalists were purposively sampled; 5 per constituency. Data was obtained through semi - structured questionnaires and analyzed both qualitatively and quantitatively. A total of 80 ailments treated using 111 medicinal plant species distributed within 98 genera and 56 families were documented. Prevalent communicable diseases treated using herbal medicine included; gonorrhea (17.5%), malaria (15%), respiratory infections (12%), colds (10%) and amoebiasis (10%). Non-communicable diseases were; joint pains (11.1%), ulcers/hyperacidity (8.7%), high blood pressure (8.7%), intestinal worms (11.1%) and arthritis/gout (10%). Frequently harvested plant materials were; roots, barks and leaves. The study concluded that, traditional medicine practitioners in Nyeri County possessed wide knowledge of herbal medicine but this knowledge was on the verge of disappearing as it was largely a preserve of the aged generation. The study recommended massive campaign about the benefits of using herbal medicine in the study area. Further pharmacological studies are recommended on the mentioned plant species aimed at establishing their efficacy and safety as well as standardization as potential drugs.

• Journal of Korean Medicine Rehabilitation
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• v.27 no.4
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• pp.55-65
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• 2017

Objectives The purpose of this review is to analyze results of case studies and controlled studies about Carthmi-Flos pharmacopuncture. Based on the review, authors desire to suggest the study model including precise information and evident the effect of Carthmi-Flos pharmacopuncture objectively in treating clinical disorders. Methods We search 44 studies about Carthmi-Flos pharmacopuncture from 6 Korean web databases, using words 'Carthmi-Flos pharmacopuncture' in Korean alphabet. This study had been conducted throughout 1 month (July, 2017). We selected case studies and controlled trials in investigated 44 thesis, excluding experimental research and thesis not using the Carthmi-Flos pharmacopuncture for major treatment. Results We analyze 13 case reports and 7 controlled trials. As a result, Carthmi-Flos Pharmacopuncture was used mostly in musculoskeletal, neurological diseases. But this can be applied to internal diseases. Disorders reported effectively were carpal tunnel syndrome, degenerative knee joint arthritis, posterior neck pain, low back pain, radial nerve palsy, shoulder pain, lumbar compression fracture, alopecia areata, chronic daily headache, duverney fracture, oligomenorrhea, cervical disc herniation, rheumatoid arthritis and cervical headache. Conclusions As we analyzed, Carthmi-Flos pharmacopuncture is specifically effective in musculoskeletal and neurologic diseases. But there are various problems in study design. To design accurately, the study design should include much more specific information. And the result can be more precise by excluding other methods.

• Pediatric Infection and Vaccine
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• v.12 no.2
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• pp.149-156
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• 2005

Purpose : Acute septic arthritis and acute osteomyelitis are not rare diseases in pediatric population. But when the diagnosis is delayed or inappropriate treatments are given, permanent disabilities of joint or bone can be followed. We analysed clinical manifestations, laboratory findings, X-ray findings, causative microorganisms and antibiotic susceptibility results of the two diseases in children. Methods : During January 1992 and May 2002, we conducted a retrospective study of 103 children who were diagnosed as acute septic arthritis and acute osteomyelitis. We selected out 34 children who had positive culture results in the blood or involved sites. Results : 19 cases were diagnosed as acute septic arthritis and 15 cases were acute osteomyelitis. These diseases were most common in preschool children and next in neonates. Hip joints and tibia were the most common sites in each disease. X-ray findings showed abnormalities in 6 cases(36%) of acute septic arthritis and 7 cases(50%) of acute osteomyelitis on admission. The most common microorganism isolated from the involved sites was Staphylococcus aureus; 12 out of 14 cases in acute septic arthritis and 6 out of 13 cases in acute osteomyelitis. Conclusion : It is difficult to make a clear initial diagnosis of the two diseases. We could not find any differences between these two diseases on clinical manifestations such as fever, swelling, tenderness and limitation of movements in joint and bone. The most common microorganism was Staphylococcus aureus.

• Journal of Korean Physical Therapy Science
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• v.14 no.1_4
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• pp.25-36
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• 2007

The results of researching on duties of physical therapist, understanding of elderly diseases and policies related with elderly welfare came out from the survey before beginning of education to physical therapists who attended National Elderly Welfare Physical Therapist Workshop during Sep. 11th to 14th, 2007. They have already understood about long-term elderly care insurance from the policy, and responded that those policies will bring more advantage to elders. On contrary, negative response had reason of low service quality. About elderly care system, there were positive answer of appropriate alternatives to support them, but also other critics had opinion of inevitable choice for living conservation. About understanding of elderly diseases, there were more comprehension of diseases as age gets higher, but most did not understand dementia and paralysis. Past experience and process of medical treatment for their disease were such arthritis, paralysis, broken bone, and dislocation of joint. Prognosis of technical training was mostly answered positively, but linking with other related disease programs were not welcomed. Most respondents thought that professional training were needed. The results of understanding diseases during senescent had high percentage of understanding as age and education was high, and it had eye upon statistics of the survey (p < 0.05) Most of those questioned responded that it is appropriate to have six working days per week and eight hours of daily work, however, present wage is not reasonable. Most of those questioned had negative response of work independence, and had an-swered that there should be certificates needed in related fields. For difficulties during work period, they had hardship instituting direction of treatment by lack of program, level of wage, and physical difficulties. Physical therapists averagely wished to have fewer than thirty patients per therapist. After the research, physical therapists who work in those facilities of elderly care systems agreed on policies, though it should not lower service quality. In addition, they were pros to have elderly care system, yet they are still inevitable option to maintain living. For work environment, the period of work was appropriate, but had different opinions for work independence and regular number of patients. Therefore, there should be more organized treatment program that also should be linked to other practical programs at this beginning point of the policy enforcement and the time that many therapists hope to work in elderly care system.

• Investigative Magnetic Resonance Imaging
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• v.24 no.1
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• pp.55-60
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• 2020

Tietze's syndrome is an inflammatory condition associated with painful swelling of the costochondral, costosternal, and sternoclavicular joints. Tietze's syndrome has been mostly attributed to microtrauma until now; however, this etiology is currently disputed. The diagnosis is based on clinical findings, although a few studies suggest the advantages of imaging. We report a case of Tietze's syndrome with a review of radiological findings, especially magnetic resonance imaging (MRI) with dynamic contrast enhancement.