• Title/Summary/Keyword: Rare Disease

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Aortopulmonary Window (대동맥폐동맥창)

  • Kim Dong-Jin;Min Sun-Kyung;Kim Woong-Han;Lee Jeong-Sang;Kim Yong-Jin;Lee Jeong-Ryul
    • Journal of Chest Surgery
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    • v.39 no.4 s.261
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    • pp.275-280
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    • 2006
  • Background: Aortopulmonary window (APW) is a very rare congenital heart anomaly, often associated with other cardiac anomalies. It causes a significant systemic to pulmonary artery shunt, which requires early surgical correction. Accurate diagnosis and surgical correction will bring good outcomes. The purpose of this study was to describe our 20-year experience of aortopulmonary window. Material and Method: Between March 1985 and January 2005, 16 patients with APW underwent surgical repair. Mean age at operation was $157.8{\pm}245.3$ ($15.0{\sim}994.0$) days and mean weight was $4.8{\pm}2.5$ ($1.7{\sim}10.7$) kg. Patent ductus arteriosus (8), atrial septal defect (7), interruptedaortic arch (5), ventricular septal defect (4), patent foramen ovate (3), tricuspid valve regurgitation (3), mitral valve regurgitation (2), aortic valve regurgitation (1), coarctation of aorta (1), left superior vena cavae (1), and dextrocardia (1) were associated. Repair methods included 1) division of the APW with primary closure or patch closure of aorta and pulmonary artery primary closure or patch closure (11) and 2) intra-arterial patch closure (3). 3) Division of the window and descending aorta to APW anastomosis (2) in the patients with interrupted aortic arch or coarctation. Result: There was one death. The patient had 2.5 cm long severe tracheal stenosis from carina with tracheal bronchus supplying right upper lobe. The patient died at 5th post operative day due to massive tracheal bleeding. Patients with complex aortopulmonary window had longer intensive care unit and hospital stay and showed more morbidities and higher reoperation rates. 5 patients had reoperations due to left pulmonary artery stenosis (4), right pulmonary artery stenosis (2), and main pulmonary artery stenosis (1). The mean follow-up period was $6.8{\pm}5.6$ (57.0 days$\sim$16.7 years)years and all patients belonged to NYHA class 1. Conclusion: With early and prompt correction of APW, excellent surgical outcome can be expected. However, optimal surgical method needs to be established to decrease the rate of stenosis of pulmonary arteries.

Clinical Analysis of Primary Malignant Lymphoma of the Lung (원발성 폐림프종의 임상 고찰)

  • Kim, Jae-Bum;Park, Nam-Hee;Kum, Dong-Yoon;Noh, Dong-Sub;Lee, Jae-Hoon;Han, Seung-Bum;Jung, Hye-Ra;Park, Chang-Kwon
    • Journal of Chest Surgery
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    • v.40 no.6 s.275
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    • pp.435-440
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    • 2007
  • Background: Primary malignant lymphoma of the lung is a very rare neoplasm. Although the prognosis of lymphoma is favorable, the clinical features, prognostic factors and management have not been clearly defined. Material and Method: We retrospectively reviewed the records of 8 patients we managed between 1994 and 2000. They all had malignant lymphoma on the pathologic examination of the lung wit no evidence of mediastinal adenopathy and extrathoracic disease, and no past history of lymphoma. Result: The study group consisted of 3 males and 5 female patients with a mean age of 53.9 years. Three patients were asymtomatic and 5 patients were seer with pulmonary or systemic symptoms. The diagnostic methods were 3 CT needle aspiration biopsies, 1 bronchoscopic biopsy and 4 surgical methods (wedge resection, lobectomy). There were 3 patients with MALT lymphoma, two with diffuse large B-cell lymphoma, two with small lymphocytic lymphom, and one with follicular lymphoma. The 8 patients were treated with a variety of modalities, including surgery, chemotherapy, radiotherapy and combination therapy. The 8 patients have survived for a median follow-up of 38 months. Conclusiian: Although this entity of lymphoma appears to have a good prognosis, further clinical experience and long-term follow-up are needed to identify its clinical features, prognostic factors and management.

Comparison of pathogen detection from wild and cultured olive flounder, red sea bream, black sea bream and black rockfish in the coastal area of Korea in 2010 (2010년 한국 연근해 자연산과 양식산 넙치, 참돔, 감성돔, 조피볼락의 병원체 비교)

  • Park, Myoung Ae;Do, Jeung-Wan;Kim, Myoung Sug;Kim, Seok-Ryel;Kwon, Mun-Gyeong;Seo, Jung Soo;Song, Junyoung;Choi, Hye-Sung
    • Journal of fish pathology
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    • v.25 no.3
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    • pp.263-270
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    • 2012
  • This study surveyed for the prevalence of parasites, bacteria and viruses in four fish species, olive flounder (Paralichthys olivaceus), red sea bream (Pagrus major), black sea bream (Acathopagrus schlegeli) and black rockfish (Sebastes schlegeli) in 2010. The survey was aimed to compare the pathogens detected from wild and cultured fish for an epidemiological study. Anisakis sp. was predominantly detected from wild olive flounder and red sea bream (58.6% and 41.7% respectively), but not from the cultured fishes, suggesting anisakid infection is rare in cultured fish. The wild fish get in contact with the anisakids through their prey such as small fishes or crustaceans which carry the anisakids; whereas the cultured fish are fed with formulated feed, free of anisakids. Bacterial detection rates from the wild fishes examined in the study were lower than those of cultured fishes. Vibrio sp. dominated among detected bacterial population in cultured olive flounder (18%). Since vibriosis is known as a secondary infection caused by other stressful factors such as parasitic infections, handling and chemical treatment, it seems that cultured olive flounder are exposed to stressful environment. Viruses diagnosed in the study showed difference in distribution between wild and cultured fishes; hirame rhabdovirus (HRV) (0.1%) and lymphocystis disease virus (LCDV) (3.9%) were detected in the cultured olive flounder, but not in the wild fish, and marine birnavirus (MBV) (1.7%) and red sea bream iridovirus (RSIV) (3.2%) were detected from the wild and cultured red sea bream, respectively. From the survey conducted, it can be concluded that even though some pathogens (Trichodina sp., Microcotyle sp., etc.) are detected from both the wild and cultured fish, pathogens such as Anisakis sp., Vibrio sp. and LCDV showed difference in distribution in the wild and cultured host of same fish species and this can be attributed to their environmental condition and feeding.

The Clinical Outcome of Dedifferentiated Chondrosarcoma (역분화 연골육종의 임상 결과)

  • Kong, Chang-Bae;Lee, Seung Yong;Song, Won-Seok;Cho, Wan-Hyeong;Koh, Jae-Soo;Jeon, Dae-Geun
    • Journal of the Korean Orthopaedic Association
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    • v.54 no.2
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    • pp.164-171
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    • 2019
  • Purpose: A dedifferentiated chondrosarcoma is a rare lethal tumor characterized by a low grade chondrosarcoma juxtaposed with a high grade dedifferentiated sarcoma, such as osteosarcoma, fibrosarcoma. The aim of our study was to document the clinical manifestation and oncologic outcomes of a dedifferentiated chondrosarcoma. Materials and Methods: This study identified 11 patients who were diagnosed and treated for dedifferentiated chondrosarcoma between January 2007 and December 2016. The identified cohort was then reviewed regarding age, sex, symptom onset, tumor location, magnetic resonance imagings (MRIs), surgical margin, and pathologic diagnosis. The time to local recurrence and/or metastasis, follow-up duration, and the patients' final status were analyzed. Results: The patients were comprised of 7 males and 4 females with a mean age of 54 years (range, 33-80 years). The location of the tumor was in the femur in 6 cases, pelvis in 4 cases, and metatarsal in 1 case. The average tumor diameter was 12.7 cm (range, 6.0-26.1 cm). At the time of diagnosis, 2 patients showed pathologic fracture; 1 patient was Enecking stage IIA, 9 patients were stage IIB, and 1 patient was stage III. Eight patients were classified as a primary dedifferentiated chondrosarcoma and 3 patients were secondary. One of the primary lesions was misinterpreted initially as a low grade chondroid lesion by MRI and underwent curettage. Local recurrence occurred in 8 cases and distant metastasis occurred in 10 cases with a mean duration of 8 months (range, 2-23 months) and 7 months (range, 1-32 months), respectively. The three-year overall survival of patients with dedifferentiated chondrosarcoma was 18%, and 10 patients died due to disease progression. Conclusion: Dedifferentiated chondrosarcoma developed lung metastases in the early period of the clinical courses and the prognosis was dismal.

Relationship between the Change in Body Weight or Body Mass Index and Pulmonary Function (체중 및 체질량지수 차이에 따른 폐 기능과의 연관성)

  • Kim, Taeyoung;Woo, Jeonghyun;Lee, Woohyun;Jo, Seonkyung;Chun, Hyejin
    • Korean journal of health promotion
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    • v.19 no.2
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    • pp.91-95
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    • 2019
  • Background: Obesity and deterioration of pulmonary function are known to increase all-cause mortality and morbidity associated with chronic diseases. Obesity is a known risk factor for decreasing pulmonary function; however, studies on the effect of changes in body weight or body mass index (BMI) on pulmonary function are rare. This study aimed to investigate the relationship between the change in body weight or BMI and the pulmonary function test (PFT) in Koreans who underwent consecutive screening at a health promotion center. Methods: We enrolled 5,032 patients who underwent consecutive screening health check-ups at a health promotion center in 2015 and 2017. The BMI was calculated as the body weight (kg) divided by the square of the height (m2) in 2015 and 2017. We analyzed the association between the change in body weight or BMI and PFT. Results: In males, PFT and changes in body weight were associated with forced expiratory volume in 1 second (FEV1) but not with changes in BMI. In females, FEV1/forced vital capacity and forced expiratory flow between 25-75% of vital capacity (FEF25-75%) were significantly associated with the changes in body weight and BMI. A correlation analysis between body weight and BMI showed a negative correlation with FEF25-75% in males. In females, FEV1/FVC and FEF25-75% were negatively correlated. Conclusions: We observed that the increase in body weight and BMI was significantly associated with pulmonary function. This finding suggests that careful monitoring of body weight and BMI may aid in maintaining proper pulmonary function, thereby, reducing mortality and morbidity.

Clinical Study on Thoracic Actinomycosis (흉부 방선균종의 임상적 고찰)

  • Hong, Sang-Bum;Kim, Woo-Sung;Lee, Jae-Hwan;Bang, Sung-Jo;Shim, Tae-Son;Lim, Chae-Man;Lee, Sang-Do;Koh, Youn-Suck;Lee, In-Chul;Kim, Dong-Soon;Kim, Won-Dong
    • Tuberculosis and Respiratory Diseases
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    • v.45 no.5
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    • pp.1058-1066
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    • 1998
  • Background: Actinomycotic infection is uncommon and primary actinomycosis of the lung and chest wall has been less frequently reported. This disease may present as chronic debilitating illness with radiologic manifestation simulating lung tumor, pulmonary infiltrating lesion, or chronic suppuration. Diagnosis of choice was not definded yet and role of bronchoscopy on diagnosis was not described yet. Methods: From 1989 to 1998, we experienced 17 cases of thoracic actinomycosis. We have reviewed the case notes of 17 patients with thoracic actinomycosis. The mean age at presentation was $53{\pm}13$ years, 11 were male. Results: Cough, hemoptysis, sputum production, chest pain and weight loss were the commonest symptoms. The mean delay between presentation and diagnosis was $6.6{\pm}7.8$ months. There were six patients who presented with a clinical picture of a suppurative lesion and eleven patients were suspected of having primary lung tumor initially. In no cases was made an accurate diagnosis at the time of hospital admission. Associated diseases were emphysema (1 case), bronchiectasis (2 cases) and tuberculosis (2 cases). Bronchoscopic findings were mucosal swelling and stenosis(n=4), mucosal swelling, stenosis and necrotic covering (n=2), mass (n=3), mass and necrotic covering (n=1) and normal(n=6). Radiologic findings were mass lesion(n=8), pneumonitis(n=3), atelectasis(n=3), pleural effusion(n=2), and normal(n=3). Final diagnosis was based on percutaneous needle aspiration and biopsy (n=3), bronchoscopic biopsy specimens (n=9), mediastinoscopic biopsy (n=1) and histologic examination of resected tissue in the remaining patients(n=4) who received surgical excision. Among 17 patients, 13 were treated medically and the other 4 received surgical intervention followed by antibiotic treatment. Regarding the surgically treated patients, suspected malignancy is the most common indication for operation. However. both medically and surgically treated patients achieved good clinical results. Conclusion: Thoracic actinomycosis is rare. but should still be considered in the differential diagnosis of a chrinic, localized pulmonary lesion. Thoracic actinomycosis may co-exist with pulmonary tuberculosis or lung cancer. If the lesion is located in the central of the lung. the bronchoscopy is recommanded for the diagnosis.

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Genetic Counseling in Korean Health Care System (한국 의료제도와 유전상담 서비스의 구축)

  • Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.8 no.2
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    • pp.89-99
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    • 2011
  • Over the years Korean health care system has improved in delivery of quality care to the general population for many areas of the health problems. The system is now being recognized in the world as the most cost effective one. It is covered by the uniform national health insurance policy for which most people in Korea are mandatory policy holders. Genetic counseling service, however, which is well recognized as an integral part of clinical genetics service deals with diagnosis and management of genetic condition as well as genetic information presentation and family support, is yet to be delivered in comprehensive way for the patients and families in need. Two major obstacles in providing genetic counseling service in korean health care system are identified; One is the lack of recognition for the need for genetic counseling service as necessary service by the national health insurance. Genetic counseling consumes a significant time in delivery and the current very low-fee schedule for physician service makes it very difficult to provide meaningful service. Second is the critical shortage of qualified professionals in the field of medical genetics and genetic counseling who can provide the service of genetic counseling in clinical setting. However, recognition and understanding of the fact that the scope and role of genetic counseling is expanding in post genomic era of personalized medicine for delivery of quality health care, will lead to the efforts to overcome obstacles in providing genetic counseling service in korean health care system. Only concerted efforts from health care policy makers of government on clinical genetics service and genetic counseling for establishing adequate reimbursement coverage and professional communities for developing educational program and certification process for professional genetic counselors, are necessary for the delivery of much needed clinical genetic counseling service in Korea.

Consideration on National Rituals and Folk Beliefs Found in 『Hajaeilgi』 (『하재일기』에 나타난 국가의례와 민간신앙 일고찰)

  • Song, Jae Yong
    • (The)Study of the Eastern Classic
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    • no.69
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    • pp.349-371
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    • 2017
  • "Hajaeilgi(荷齋日記)" was written by Ji Gyu-sik, a gongin of Saongwon(司饔院)'s branch, almost everyday for 20 years and 7 months from January 1st, 1891 until the leap month of June 29th, 1911. It deals with many different areas including domestic and foreign circumstances, custom, rituals, all the affairs related to the branch, and also everyday life events he did see or hear about. Particularly, Ji Gyu-sik did not belong to the yangban class, and we can hardly find diaries written by such class' people. Here, what this author pays attention to among the things written in "Hajaeilgi" is the contents about folklore. Ji Gyu-sik wrote in his "Hajaeilgi" about things related to folklore, for example, seasonal customs, folk plays, rituals, or folk beliefs that were actually practiced then as a person not belonging to the yangban class. Such diaries are rare, and its value is highly appreciated as a material, and it is meaningful in the aspects of folklore as well. Therefore, as part of the work to look into folklore found in "Hajaeilgi", this author focuses on national rituals and folk beliefs in it. The things that have been discussed earlier can be summed up as follows: About national rituals, it is sorry that it only deals with the emperor's enthronement and emperor and crown prince's birthday in garye(嘉禮); however, it is meaningful to know that the people faithfully carried out national ceremonies and celebrations then. Particularly, it is noteworthy that during the national ceremonies or celebrations, students were asked to sing the national anthem. About hyungrye(凶禮), only it deals with the court funeral rite. Aside from Minbi's funeral rite, the court funeral rite was performed properly at the right time according to the procedure like before, and also, it seems that the people fulfilled it faithfully by order of the government. Also, it can be learned from it that Japanese killed Minbi, burned the body with oil, and left the ashes behind. About folk beliefs, the branch held a memorial service at the shrine of the town regularly. The town, too, performed Gocheongsinsa each year. The money needed for the memorial service was collected from the town people differently according to their financial situations, and they prepared for jesu for the ancestral rite altogether. The memorial service was carried out in Sansindang or Bugeundang, too, and it was common that they summoned a shaman to perform a gut. The diary is valuable as material. After being a Christian, Ji Gyu-sik once tried to abolish sinsa jesa held in hoesa and get rid of saesin(賽神), that is, a gut or pudakgeori, but he had no choice but to follow the precedent. Meanwhile, it is also noteworthy that when the town suffered from floor and infectious disease, Ji Gyu-sik installed an altar in front of his house for the town's wellbeing and health, prepared for jesu including offerings and drinks, and held a memorial service to Hwangcheonhuto(皇天后土; the gods of heaven and earth) accompanied with the town people. Also, when he had any hardships in his family, Ji Gyu-sik summoned a shaman for a gut or offered a devout prayer to the mountainous god. Such shamanism or the things like worshiping Gwanseongjegun(關聖帝君) mostly in the beginning of January and telling fortunes about the year were all folk beliefs. This was very popular among the people, and it seems that it was deeply rooted in his life as well. Also, Ji Gyu-sik supported Fengshui beliefs, and it seems that it is not different from the people's general tendencies, either. As described above, "Hajaeilgi" dealing with national rituals and folk beliefs in it is valuable as material and is meaningful for research on forklore, and moreover, it is also significant in the aspects of forklore as well.

A Study on Residual Hearing of Hearing Impaired Children (고도난청아(高度難聽兒)에 대(對)한 잔존청력(殘存聽力))

  • Rhee, Kyu-Shik;Kim, Doo-Hie
    • Journal of Preventive Medicine and Public Health
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    • v.6 no.1
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    • pp.51-63
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    • 1973
  • This paper illustrate residual hearing and socio-medical background on the hearing impaired children, 207 comming to Deaf School. attached to Hankuk Social Work College, Taegu, Korea. The survey was performed through interview with their parents and testing by diagnostic audio-meter (TRIO, AS 105 type) at soundproof room from March 10, to November 28, 1973. The results obtained were as follows. 1) The attendance rate of the compulsory primary school was markedly lower tendency in female than male according to directly proportional to prevalence rate of deafness among them. If was showed the deeper gap in the more superior school (middle and high school). 2) Who entered at the suitable age to each school (six years old to primary school, 12 years to middle and 15 years to high) was 11.3%. And who were enrolled in school age to each school (6-11 years for primary. 12-14 years for middle and 15-17 years for high) was 45.9% (43.7% in male, 50.0% in female). 3) As causative disease, congenital case, were 23.6% included of 13.5% of heredity and 10.1% of troubles during pregnancy; the total acquired cases were 47.9%, it was classified as 11.6% of convulsion from any other diseases, 7.7% of measles, 7.7% of other febrile diseases, 3.4% of drug (the most of streptomycin) intoxication, 2.4% of meningitis, 1.5% of epidemic encephalitis and 31.3% of other diseases; and unknown cases were 28.5%. 4) 31.4% of who included congenital cases lost their hearing within six months old, 11.6% in 6-11 months. 9.7% in 1-2 years old and 14.0% in 2-3years old. Consequently we obtained that the most cases 90.0% were lost their hearing within 3 years after birth. 5) According to qualities of hearing leases the most of cases were perceptive, 197(97.5%), only two cases were conductive, and eight cases were mixed. 6) The status of residual hearing according to average grade of hearing loss. $B(=\frac{a+2b+c}{4}$ as table 13) were as follows. Two cases were normal (one was mute and another was severe speach disorder). Ten cases, moderate. Moderately severe cases were 40 (19.3%). Severe cases, 38(18.4%). Scale out, profound cases, 48 (23.3%). And impossible testing cases because that were infantile or had some mental disorder were 69 (33.3%). 7) The using rate of hearing aides was only 12.0%. Among them who had some more residual hearing and could showed hearing effect with hearing aide have used more many proportionary but who were difficult to expect that effect were rare.

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