• Title/Summary/Keyword: Rare disease

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Early Detection Assistance System for Rare Diseases based on Patient's Symptom Information (환자 증상정보 기반 희귀질환 조기 발견 보조시스템)

  • Jae-Min Choi;Sun-Yong Kim
    • The Journal of the Korea institute of electronic communication sciences
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    • v.18 no.2
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    • pp.373-378
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    • 2023
  • Untypical symptoms and lack of diagnostic records make it difficult for even medical specialists to detect rare diseases. Thus, it takes a lot of time and money from the onset of symptoms to an accurate diagnosis, which seriously results in physical, mental, and economic pressure on patients. In this paper, we propose and implement an early detection assistance system for rare diseases using web crawling and text mining, which can suggest the names of suspected rare diseases so that medical staffs can easily recall the disease names and make a final diagnosis of the rare diseases.

Surgical Treatment of M$\ddot{u}$ller-Weiss Disease (A Case Report) (뮐러-와이즈 병의 수술적 치료(1예 보고))

  • Park, Hyun-Woo;Yun, Sung-Hyun
    • Journal of Korean Foot and Ankle Society
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    • v.13 no.2
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    • pp.189-192
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    • 2009
  • M$\ddot{u}$ller-Weiss disease is a rare disease presenting severe deformity of navicular with osteoarthritis. This disease can be confused with Kohler's disease, but has a different entity. A 68 years-old male with painful mid-foot deformity had diagnosed as M$\ddot{u}$ller-Weiss disease, and triple arthrodesis with autogenous iliac bone graft had been performed on his left foot. Here is a report of our case with brief review of this disease.

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A Case Report of the Castleman`s Disease in Mediastinum (종격동에 발생한 Castleman`s Disease 1례 보고)

  • Im, Chang-Yeong;Kim, Gwang-Taek;Kim, Hyeong-Muk
    • Journal of Chest Surgery
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    • v.21 no.3
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    • pp.531-534
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    • 1988
  • Castleman`s disease is a rare disease entity of unknown etiology, with the characteristics of large, well marginated benign lymph node hyperplastic mass. This disease occurs predominantly in the mediastinum but also occurred in other areas of the body usually where lymph nodes are normally found. They have been divided into two histologic types: the hyaline vascular lesion which comprises over 90% of the cases; the plasma cell lesions, which was characterized by large follicle with plasma cell and systemic manifestation, such as fever, anemia elevated ESR, hypergammaglobulinemia, hypoalbuminemia. This disease have behaved in a benign fashion and complete surgical excision is the choice of treatment. We experienced a case of Castleman`s disease which was treated by surgical resection through the thoracotomy, and has good postoperative and follow up result. We report a case of the Castleman`s disease with its review.

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Anti-Tumor Necrosis Factor Therapy in Intestinal Behçet's Disease

  • Park, Jihye;Cheon, Jae Hee
    • Gut and Liver
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    • v.12 no.6
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    • pp.623-632
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    • 2018
  • Intestinal Behçet's disease is a rare, immune-mediated chronic intestinal inflammatory disease; therefore, clinical trials to optimize the management and treatment of patients are scarce. Moreover, intestinal Behçet's disease is difficult to treat and often requires surgery because of the failure of conventional medical treatment. Administration of anti-tumor necrosis factor-${\alpha}$, a potential therapeutic strategy, is currently under active clinical investigation, and evidence of its effectiveness for both intestinal Behçet's disease and inflammatory bowel diseases has been accumulating. Here, we review updated data on current experiences and outcomes after the administration of anti-tumor necrosis factor-${\alpha}$ for the treatment of intestinal Behçet's disease. In addition to infliximab and adalimumab, which are the most commonly used agents, we describe agents such as golimumab, etanercept, and certolizumab pegol, which have recently been shown to be effective in refractory intestinal Behçet's disease. This review also discusses safety issues associated with anti-tumor necrosis factor-${\alpha}$, including vulnerability to infections and malignancy.

Clinical Analysis of 622 Cases of Open Heart Surgery (1986 년 개심술 622례에 대한 임상적 고찰)

  • 박표원
    • Journal of Chest Surgery
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    • v.20 no.3
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    • pp.489-497
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    • 1987
  • Six hundred and twenty two cases of open heart surgery were performed at Sejong General Hospital in 1986. And also, 117 cases of non open heart cardiac surgery had been performed during same period. Among the 622 open heart cases, 548 were congenital cardiac diseases and 74 were acquired heart diseases. In congenital heart patients, 422 were acyanotic and 126 were cyanotic. There were 52 cases of infant open heart Surgery below 12 months. Acyanotic group were consisted of 314 VSD, 66 ASD, 13 AVSD, 9 PDA, 8 ASD + PS, 4 AS, and 8 other rare cardiac cases. And cyanotic group were consisted of 84 TOF, 15 DORV, 5 Trilogy, 4 Ebstein`s anomaly, 3 PS + TR, 3 TGA, 3 TAPVR, 3 Pulmonary atresia and 6 other rare cardiac diseases. Majority of the acquired heart cases were valvular heart diseases. And there were also 4 cardiac myxoma and one endomyocardial fibrosis in acquired heart disease group. The operative results were as follows: Overall operative mortality, 5.3%: acyanotic 2.4%: cyanotic 15.8% and acquired heart disease, 8.5%.

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Accessory Hepatic Lobe: A Rare Cause of Prehepatic Portal Hypertension in a Child

  • Sag, Elif;Cansu, Aysegul;Imamoglu, Mustafa;Cakir, Murat
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.21 no.4
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    • pp.361-364
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    • 2018
  • Accessory hepatic lobe is noted as and considered a rare disease in children. It can manifest with various symptoms and complications depending on the location, volume, type and position of the disease as presented on a child. The patient presented as a 14-month-old girl who was seen with a notable hepatosplenomegaly and portal hypertension. A diagnosis was made after taking an extensive medical history, observation and radiological examinations. The formal diagnosis was a prehepatic portal hypertension associated with accessory hepatic lobe.

A Giant Hydatid Cyst in the Interventricular Septum with Papillary Muscle Involvement

  • Sabzi, Feridoun;Faraji, Reza
    • Parasites, Hosts and Diseases
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    • v.51 no.3
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    • pp.349-352
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    • 2013
  • We present here a 44-year-old male patient with hydatid disease who was referred to our hospital due to dyspnea and chest pain for the last 2 month before admission. Using echocardiography and contrast-enhanced computed tomography the heart hydatid was diagnosed. However, hydatid disease of the interventricular septum is rare; particularly, the involvement of mitral apparatus with mitral regurgitation (MR) is an exceptionally rare presentation. Early diagnosis and an integrated treatment strategy are crucial. Surgical excision was performed and the patient had an uneventful recovery and follow-up at 3 months.

Mesalizine-Induced Acute Pancreatitis and Interstitial Pneumonitis in a Patient with Ulcerative Colitis

  • Chung, Min Jae;Lee, Jae Hee;Moon, Kyung Rye
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.18 no.4
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    • pp.286-291
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    • 2015
  • Ulcerative colitis (UC) is a chronic idiopathic inflammatory bowel disease. Mesalizine for the first-line therapy of UC has adverse effects include pancreatitis, pneumonia and pericarditis. UC complicated by two coexisting conditions, however, is very rare. Moreover, drug-related pulmonary toxicity is particularly rare. An 11-year-old male patient was hospitalized for recurring upper abdominal pain after meals with vomiting, hematochezia and exertional dyspnea developing at 2 weeks of mesalizine therapy for UC. The serum level of lipase was elevated. Chest X-ray and thorax computed tomography showed interstitial pneumonitis. Mesalizine was discontinued and steroid therapy was initiated. Five days after admission, symptoms were resolved and mesalizine was resumed after a drop in amylase and lipase level. Symptoms returned the following day, however, accompanied by increased the serum levels of amylase and lipase. Mesalizine was discontinued again and recurring symptoms rapidly improved.

Primary Ewing's Sarcoma of the Lung

  • Hwang, Su Kyung;Kim, Dong Kwan;Park, Seung-Il;Kim, Yong-Hee;Kim, Hyeong Ryul
    • Journal of Chest Surgery
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    • v.47 no.1
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    • pp.47-50
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    • 2014
  • Most cases of Ewing's sarcoma are reported in the bone, and extraosseous Ewing's sarcoma is an extremely rare disease. Here, we report a rare case of primary pulmonary Ewing's sarcoma in a patient with hemoptysis. The patient underwent right upper lung lobe lobectomy with adjuvant chemotherapy and radiation therapy and has been free of recurrent disease for 4 years.

A CASE REPORT OF THE SALIVARY DUCT CYST AND REVIEW OF LITERATURES (이하선에 발생한 타액선도관낭종의 치험례 : 증례보고)

  • Jung, Jin-Won;Yang, Byoung-Eun;Kim, Seong-Gon
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.34 no.4
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    • pp.495-497
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    • 2008
  • The salivary duct cyst is a rare disease and usually found in the parotid gland. A 55-years-old man presented swelling in the left buccal area and pathological diagnosis was a salivary duct cyst. Though its recurrence has been reported rare, the presented case showed recurrent swelling after enucleation. The recurrent lesion was successfully treated by incision and drain insertion.