• Journal of Chest Surgery
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• v.48 no.4
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• pp.272-276
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• 2015

Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder that is characterized by aggressive arterial and aortic disease, often involving the formation of aortic aneurysms. We describe the cases of two children with LDS who were diagnosed with aortic root aneurysms and successfully treated by valve-sparing aortic root replacement (VSRR) with a Valsalva graft. VSRR is a safe and suitable operation for children that avoids prosthetic valve replacement.

• Clinical and Experimental Pediatrics
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• v.54 no.6
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• pp.272-275
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• 2011

A recently recognized connective tissue disorder, Loeys-Dietz syndrome (LDS) is a genetic aortic aneurysm syndrome caused by mutations in the transforming growth factor-receptor type I or II gene (TGFBR1 or TGFBR2). They have distinctive phenotypic abnormalities including widely spaced eyes (hypertelorism), bifid uvula or cleft palate, and arterial tortuosity with aortic aneurysm or dissection throughout the arterial tree. LDS is characterized by aggressive and rapid progression of aortic aneurysm. Therefore, the patients with distinct phenotype, marked aortic dilatation and aneurysm at early age should be suspected to be affected by LDS and rapid TGFBR gene analysis should be done. We report one child diagnosed as LDS due to typical phenotypes and two novel missense mutations of the TGFBR2 gene (c.1526G>T and c.1528A>T).

• The Journal of Advanced Prosthodontics
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• v.7 no.2
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• pp.178-182
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• 2015

Ehlers-Danlos syndrome is an autosomal dominant hereditary disorder of connective tissue, while familial gigantiform cementoma is a condition that usually manifests as multiple radiopaque cementum-like masses throughout the jaws. This case report discusses the oral management and prosthetic rehabilitation of two patients presenting familial gigantiform cementoma with Ehlers-Danlos Syndrome.

• Journal of Chest Surgery
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• v.44 no.1
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• pp.72-75
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• 2011

Aortic thrombi are important because it can cause the central and peripheral embolizations. Aortic thrombi can occur anywhere in the aorta but extremely rare in ascending aorta without atherosclerosis, aneurysm, cardiosurgical or traumatic state. Systemic sclerosis (SSc) is an autoimmune disorder of connective tissue and it can involve multisystem. Enhanced coagulation pathways, decreased fibrinolysis, and endothelial dysfunction probably contribute to vascular events in SSc. We report a case of a highly mobile thrombus in the ascending aorta, presented as an acute embolic stroke in the patient with systemic sclerosis. Surgical removal was performed to prevent recurrent embolic events.

• Journal of Korean Medical classics
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• v.34 no.1
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• pp.89-102
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• 2021

Objectives : This paper aims to examine situations that were conceived as incurable at the time of publication of the 『Huangdineijing』. Methods : The texts of the 『Huangdineijing』 were searched for contents which included 'cannot be cured.' Next, the verses were examined within their context, after which those that specifically indicated 'incurability' were selected. These were categorized according to content, then organized to better show the situations that were seen as incurable to the authors of the 『Huangdineijing』. Results : The conditions deemed incurable in the 『Huangdineijing』 were bloody and purulent stool, ascites, tumors, some purulent inflammation, some infectious diseases with fever, wasting thirst, chronic kidney disorder, some diseases of the connective tissue, epilepsy, cardiac infarction, and cerebrovascular diseases. Internal damage due to acupuncture and poor patient attitude could also contribute to incurability. Conclusions : The authors of the 『Huangdineijing』 were unable to cure some conditions that are currently being cured by Korean Medicine.

• Annals of Clinical Neurophysiology
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• v.25 no.1
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• pp.41-44
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• 2023

Overlap myositis (OM) associated with Sjögrens syndrome (SS) is a relatively uncommon disorder. It is more difficult to detect OM when a patient had not been previously diagnosed with SS. We report a case of OM associated SS that initially presented with dysphagia followed by proximal weakness. If proximal muscle weakness is preceded by dysphagia, the possibility of OM associated with connective-tissue disease should be considered.

• Journal of Society of Preventive Korean Medicine
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• v.3 no.2
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• pp.101-128
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• 1999

A study on disease treated at oriental medical treatment facilities (OMTF) and patients' satisfaction levels was conducted in order to figure out why the patients visited oriental medical doctors and the level of satisfaction of the patients for the services offered to them by oriental medical doctors. This study was performed from March 2 through May 31, 1998 by interviewing 1.532 persons living in major and small cities in korea. The results obtained were summarized as follows; 1. The general characteristics of subjects. The highest portion of each part was, 66.9% female, persons in the age group of over 60's 22.7%, high school graduated 34.9%, house wife 30.8%, The married 65.0%, Buddhist 36.9%, maj or city residents 60.2%, company covered insurance benefiter 39.0% and etc. 2. 40.5% of subjects visited OMTF for skeletal and connective tissue diseases. 21.5% for digestive system diseases. 16.2% for respiratory system diseases. 13.3% for circulatory system diseases and 9.0% for neurological problems. 3. 42.7% of males visited OMTF for skeletal and connective tissue diseases, which were the highest and respiratory system disorders, digestive system disorders, circulatory system disorders and neurological diseases in order. 39.4% of females visited OMTF for skeletal and connective tissue disorders which were the highest and other conditions such as digestive system, circulatory, respiratory, and neurological disorders in order. 4. The males with circulatory system disorders were treated by herbal medicine, combination of herbal medicine and acupuncture, only in order. The females with the some conditions above were treated by combination of herbal medicine and herbal medical and acupuncture only in order. The males and females with respiratory system and digestive system diseases were treated by herbal medicine, combination of herbal medicine and acupuncture only in order. But the males and females with skeletal and connective tissue diseases were by acupuncture are the highest in order. 5. The females and persons in the age group of over 60' s and house wife. the not married, the unhealthy persons, residents living in small cities, the persons with high income by medical treatments frequency in circulatory system diseases are the highest. 6, The females, middle school graduated and the married, persons in the age group of over 60's, unemployed, sales and service industry workers, Buddhists, major city residents, the unhealthy persons, the persons with middle income by medical treatments frequency in respiratory system diseases are the highest. 7. The females, persons in the age group of over 60's, under graduated or elementary school graduated, the unemployed and house wife, the unmarried, Buddhists, major city residents, the unhealthy persons, the persons with low income by medical treatments frequency in digestive system diseases are the highest. 8. The males, major city residents, old ages, under graduated or elementary school graduated, go earn officials, people grown in small city, the persons who had health insurance policies, the persons with low income, the unhealthy persons by medical treatments frequency in skeletal and connective tissue disorders diseases. 9. 50.8% of the respondents said that the treatments at the OMTF were very effective. 47.7% of them said that the treatments were effective. The males, persons in the age group of 40's, high school graduates, official workes, the married, the persons who did not have religion, major city residents, the persons who had health insurance policies, the persons with high income and the healthy persons said that the treatment effects at OMTF were satisfactory. 10. The patients' satisfaction rate for OMTF on each disease is, 1st. Musculo-Skeletal system(most satisfied), 2nd. the pregnancy & delivery complications, 3rd. Eye & ophthalmics, 4th. Respiratory system, 5th. Mental & bodily disorder, 6th. Digestive system and etc. 11. The factors affect OMTF are age, satisfaction for OMTF, current disease, religion, efficiency of Oriental Medicine, health condition and etc. This explained power of variable were 39.0%. 12. The satisfied factors for OMTF is correlate to educational level, and economical variables.

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.43-47
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• 2019

Ehlers-Danlos syndrome (EDS) VIII is an autosomal dominant inherited connective tissue disorder characterized by intractable periodontal inflammation, absence of gingiva, pretibial plaques, skin hyperextensibility, joint hypermobility, and tissue fragility with onset in the childhood or adolescence. In a recent report, heterozygous variants of the C1R or C1S related to the classical complement pathway were identified in families with history of EDS VIII. The current report describes a Korean 34-year-old female carrying a novel missense variant of C1R c.925T>G (p.Cys309Gly) and exhibiting early severe periodontitis, skin fragility, and joint hypermobility. The patient also had frontal, parietal, and temporal white matter brain lesions without definite vascular abnormalities on brain magnetic resonance imaging, which have not been surveyed meticulously in EDS VIII. Considering the genetic alteration of classic complement pathways in this condition, it is necessary to carefully observe multisystemic inflammation processes such as changes in brain white matter.

• Annals of Clinical Neurophysiology
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• v.9 no.1
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• pp.11-15
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• 2007

Background: The term "overlap syndromes" designates a group of diseases in which polymyositis (PM) or dermatomyositis (DM) is associated with some other disorders of connective tissues. The aim of this study was to delineate the clinical features, laboratory findings, and outcome of treatment of "overlap syndromes" Methods: We analyzed the medical records of 16 patients (PM in 10, DM in 6) with well documented "overlap syndromes" between 1997 and 2004. The diagnosis was made when the criteria for two different disorders were fulfilled. Results: All patients were female. Age of onset ranged from 14 to 52 years (mean 29.8 years) with peak incidence in the third and fourth decades. Systemic lupus erythematosus (SLE) was associated in 10, systemic sclerosis in 7, and rheumatoid arthritis in 3 patients. Four of the patients had two different connective tissue diseases simultaneously. The characteristic clinical features were muscle weakness, arthralgia, Raynaud's phenomenon, and myalgia. In laboratory tests, creatine kinase (CK), lactic dehydrogenase (LDH), and transaminases were usually abnormal. Positive antinuclear antibody (ANA), rheumatoid factor (RF), and cryoglobulin were found in 100%, 69%, and 67% of the patients, respectively. Needle electromyography (EMG) showed abnormal findings compatible with myopathy in 15 patients. The pathology of muscle biopsy from 14 patients revealed findings compatible with inflammatory myopathy. Glucocorticoids were administered to 15 patients. The muscle strength improved in all the treated patients, which was well correlated with repeat CK level and EMG findings. Conclusions: The presence of autoantibodies such as ANA, RF, and cryoglobulin in patients with PM or DM highly suggests the possibility of an overlap syndromes. These syndromes reveal a strong female predominance. The myositis associated with them usually shows a good response to glucocorticoids treatment.

• Journal of Society of Preventive Korean Medicine
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• v.11 no.2
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• pp.41-70
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• 2007

The purpose of this study was to identify a tendency in patients who seek oriental medical service and factors influencing patient satisfaction. The study was conducted with 1,520 residents of a community during the period from February 5, 2005 through June 30, 2005 using a questionnaire. This study results are summarized as follows : 1. Of subjects who sought oriental medical service, 66.2% had musculoskeletal disorder and connective tissue disease, 18.9% had digestive tract disease, 16.4% had respiratory disease, 8.2% had endocrinemetabolic disease, 7.5% had circulatory disease and the remaining subjects had other diseases(p<0.001). 2. Of subjects who sought oriental medical service for the treatment of musculoskeletal disorder, 84.9% preferred acupuncture. Of those who had digestive tract diseases, 47.0% preferred packaged herbal medicine. Of those who had respiratory disease, 63.0% preferred packaged herbal medicine. 3. Acupuncture was the most often sought by subjects with musculoskeletal disorder. Packaged herbal medicine was sought by subjects with respiratory disease, digestive tract disease, endocrine-metabolic disease or circulatory disease. Tablet-type herbal medicine was sought by subjects with musculoskeletal disorder or digestive tract disease. Combined therapy was sought by subjects with musculoskeletal disorder, digestive tract disease, hematopoietic disease or immune disorder. 4. The level of satisfaction with oriental medical service was higher in subjects with circulatory disease, subjects with digestive tract disease, subjects with neurological disorder and subjects with musculoskeletal disorder in descending order. Of total subjects, 39.4% experienced side effects of oriental medical care, 38.1% experienced side effects of herbal medicine. About 51.9% considered the price of herbal medicine costly while 23.2% considered it reasonable. 5. Subjects' knowledge of herbal medicine was measured as $29.2{\pm}3.83$ out of 42 scores or 69 out of 100 points, indicating a low knowledge level. Subjects' knowledge was influenced by occupation, religion, side effects, sex, age, residence area, the type of insurance. These variables explained 15.2% of the variance. 7. Of total subjects, 56.8% were satisfied with oriental medical service. Patient satisfaction varied with occupation, religion, the type of insurance, health state and treatment outcomes. These variables explained 37.3% of the variance. Conclusion : The majority of subjects were satisfied with oriental medical service. However, oriental medical care are not widely used to treat all kinds of diseases while its use skews to a small categories of diseases. It is therefore necessary for the government and oriental medical service providers to develop new therapy approaches for the treatment of a broader range of diseases.