• Title/Summary/Keyword: defect diagnosis

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A Case of Right Pleural Effusion in Liver Cirrhosis without Ascites (복수가 동반되지 않은 간경변증 환자에서 발생한 우측성 흉막액 저류 1예)

  • Yoon, Jin;Kim, Eung-Jin;Kim, Soon-Hye;Koh, Kwang-Kon;Kim, Moon-Jae;Chung, Won-Jae;Cho, Chul-Ho;Shin, Yong-Woon;Park, Chan-Sup
    • Tuberculosis and Respiratory Diseases
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    • v.39 no.3
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    • pp.261-265
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    • 1992
  • Pleural effusion due to hepatic cirrhosis and ascites is well known. But rarely a pleural effusion may develop in a cirrhotic patient in the absence of detectable ascites. The differential diagnosis of a right-sided transudative pleural effusion in a patient with chronic liver disease with or without ascites includes congestive heart failure and nephrotic syndrome. These diseases are usually ruled out with standard clinical tests. Patients with hepatic hydrothorax should be treated with fluid restriction, diuretics and the correction of hypoalbuminemia. Patients with severe symptoms due to refractory hepatic hydrothorax might benefit from pleural sclerosis and surgical closure of diaphragmatic defect. We experienced a case of right-sided pleural effusion in liver cirrhosis without ascites.

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Trichilemmal Carcinoma from Proliferating Trichilemmal Cyst on the Posterior Neck

  • Kim, Ui Geon;Kook, Dong Bee;Kim, Tae Hun;Kim, Chung Hun
    • Archives of Craniofacial Surgery
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    • v.18 no.1
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    • pp.50-53
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    • 2017
  • Trichilemmal cysts are common fluid-filled growths that arise from the isthmus of the hair follicle. They can form rapidly multiplying trichilemmal tumors-, also called proliferating trichilemmal cysts, which are typically benign. Rarely, proliferating trichilemmal cysts can become cancerous. Here we report the case of a patient who experienced this series of changes. The 27-year-old male patient had been observed to have a $1{\times}1cm$ cyst 7 years ago. Eight months prior to presentation at our institution, incision and drainage was performed at his local clinic. However, the size of the mass had gradually increased. At our clinic, he presented with a $5{\times}4cm$ hard mass that had recurred on the posterior side of his neck. The tumor was removed without safety margin, and the skin defect was covered with a split-thickness skin graft. The pathologic diagnosis was a benign proliferating trichilemmal cyst. The mass recurred after 4months, at which point, a wide excision (1.3-cm safety margin) and split-thickness skin graft were performed. The biopsy revealed a trichilemmal carcinoma arising from a proliferating trichilemmal cyst. This clinical experience suggests that clinicians should consider the possibility of malignant changes when diagnosing and treating trichilemmal cysts.

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: A prenatal diagnosis report

  • Cho, In Ae;Park, Ji Kwon;Baek, Jong Chul;Ha, A Na;Kang, Min Young;Lee, Jae Ik;Park, Ji Eun;Shin, Jeong Kyu;Choi, Won Jun;Lee, Soon Ae;Lee, Jong Hak;Paik, Won Young
    • Journal of Genetic Medicine
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    • v.12 no.2
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    • pp.123-127
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    • 2015
  • Distal limb deformities are congenital malformations with phenotypic variability and high genetic heterogeneity. Split hand/foot malformation, also known as ectrodactyly, is a congenital limb malformation characterized by a defect of the central rays of the hands and/or feet. Split hand/foot malformation with long-bone deficiency (SHFLD) is a rare condition related to a 17p13.3 duplication. Recently, genomic duplications encompassing BHLHA9 have been associated with SHFLD. We report a case of SHFLD presenting with campomelia of the right femur, bilateral agenesis of fibulae, bilateral club feet, and oligosyndactyly of the hands and feet, that was associated with a 17p13.3 duplication, as determined prenatally using array comparative genomic hybridization.

A case of idiopathic renal hypouricemia (신성 저요산혈증 1례)

  • Han, Moon Hee;Park, Sang Uk;Kim, Deok-Soo;Shim, Jae Won;Shim, Jung Yeon;Jung, Hye Lym;Park, Moon Soo
    • Clinical and Experimental Pediatrics
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    • v.50 no.5
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    • pp.489-492
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    • 2007
  • Idiopathic renal hypouricemia is a disorder characterized by impaired urate handling in the renal tubules. This disease usually produces no symptoms, but hematuria, uric acid nephrolithiasis or acute renal failure may develop. A defect in the SLC22A12 gene, which encodes the human urate transporter, is the known major cause of this disorder. We describe a 10-month-old boy with idiopathic renal hypouricemia. He was diagnosed with transient pseudohypoaldosteronism at admission, but hypouricemia was accidentally found through follow-up study. By gene analysis, his diagnosis was confirmed to idiopathic renal hypouricemia. In addition, we report a mutation in the human urate transporter 1 (hURAT1) gene identified in his family.

A Novel Argininosuccinate Synthetase Gene Mutation in a Korean Family with Type I Citrullinemia (Citrullinemia Type I 환자의 가족에서 발견된 새로운 Argininosuccinate Synthetase 유전자 돌연변이)

  • Ahn, Byoung-Whan;Kim, Hyun-Jeung;Park, Hyung-Doo;Kim, Won-Duck
    • Neonatal Medicine
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    • v.17 no.2
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    • pp.250-253
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    • 2010
  • Citrullinemia type I is an urea cycle defect caused by mutations in the argininosuccinate synthetase (ASS1) gene. We report a novel argininosuccinate synthetase gene mutation in a Korean family with type I citrullinemia. Metabolic evaluation revealed significant hyperammonemia. Amino acid/acylcarnitine screening using tandem mass spectrometry showed high level of citrulline. Plasma amino acid analysis showed high level of citrulline and the urine organic acid analysis showed makedly increased level of orotic acid. To confirm diagnosis of citrullinemia we did mutation analysis of the ASS1 gene. The patient was found to have mutations of c.689G>C (p.G230A) and c.892G>A (p.E298K), which were new types of argininosuccinate synthetase gene mutation have never been reported in Korea. We report a novel case of argininosuccinate synthetase 1 gene mutation and suggest that the gene study to the family members is necessary to carry out when a patient is diagnosed as citrullinemia.

Change in Physical Properties of Engine oil Contaminated with Diesel (경유 혼입에 의한 엔진오일 물성 변화)

  • Lim, Young-Kwan;Lee, Jong-Eun;Na, Yong-Gyu;Kim, Jong-Ryeol;Ha, Jong-Han
    • Tribology and Lubricants
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    • v.33 no.2
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    • pp.45-51
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    • 2017
  • Engine oil is a substance used for the lubrication of internal combustion systems. However, in some case, defects in engine systems may contaminate engine oil with fuel. Contaminated engine oil can cause problems in the normal functioning of a vehicle. In this study, we investigate the functional properties of engine oil contaminated with diesel fuel. The test results indicate that the engine oil contaminated with diesel fuel has low flash point, pour point, density, kinematic viscosity and cold cranking simulator value. The contaminated engine oil which has low plash point can cause fire and explosion accident. Furthermore, a four ball test indicates that the contaminated engine oil increases wear scar to poor lubricity. Moreover, we investigate the GC pattern using SIMDIST (simulated distillation) for determination of diesel in engine oil. The SIMDIST analytic result, diesel was detected at earlier retention time than engine oil in chromatogram. Thus the SIMDIST method can define whether engine oil is contaminated by diesel fuel or not. We can use the SIMDIST method for the diagnosis of oil condition instead of analyzing other physical properties that require many analytic instruments, large volume of oil sample and long analysis time.

A Case of Late Presenting Congenital Diaphragmatic Hernia (늦게 발현된 선천성 횡경막 탈장 1예)

  • Song, Ji-Eun;Kwon, Oh-Kun;Kim, Young-Ho;Lee, Hae-Ran
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.12 no.2
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    • pp.246-250
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    • 2009
  • Congenital diaphragmatic hernias (CDH) usually cause respiratory distress soon after birth and are associated with a high mortality rate in the early postnatal period. However, there is a milder form of CDH that does not manifest during the neonatal period. The late presenting CDH is characterized by a variable clinical picture. We present the case of an otherwise healthy 5-month-old girl, who was referred for evaluation of an 1-day history of vomiting and irritability. Chest simple X-ray and CT showed bowel loops in the left thoracic cavity, which was consistent with diaphragmatic hernia. At operation, she was found to have a small left posterolateral diaphagmatic defect with viable small bowel loops in the left thoracic cavity. After surgical reposition of the hernia, the symptoms such as vomiting and irritability subsided. The lack of typical manifestation of CDH such as respiratory distress may lead to delayed diagnosis. The possibility of late presenting CDH should not be overlooked even after the neonatal period.

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Right Pulmonary Artery Agenesis -A Case Report- (우측 폐동맥 형성부전증 -수술치험 1례-)

  • Sin, Dong-Geun;Kim, Min-Ho;Kim, Gong-Su
    • Journal of Chest Surgery
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    • v.30 no.1
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    • pp.108-111
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    • 1997
  • Congenital unilateral agenesis of pulmonary artery is a rare anomaly and it usually occurs in association with other cardiac anomaly such as tetralogy of Fallot. Since most patients affected by this defect without associated congenital cardiac anomaly or pulmonary Infection are asymptomatic, the clinical diagnosis of this anomal is first recognized by a characteristic pattern in chest roentgenogram taken as a routine checking; the findings on chest film consists of cardiac and mediastinal displacement, absence of the pulmonary arterial shadow, smaller hemithorax, and elevationof the hemidiaphragm, all on the affected side. We experienced rlght pulmonary artery agenesis in a 48 year-old male, who complained of massive hemoptysis, and it was diagnosed by digital subtraction pulmonary arteriogram and perfusin scan, and treated by right middle and lower lobe bi-lobectomy, and we report this case with the review of relevant literatures.

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Reconstruction of Soft Tissue Deficit After Parotidectomy by Sternocleidomastoid Muscle Flap (이하선종양 적출술후 흉쇄유돌근을 이용한 함몰기형교정의 임상적 고찰)

  • Choi Hee-Yoon;Chung Hyo-Gyeong;Lee Young-Mann;Lew Jai-Mann
    • Korean Journal of Head & Neck Oncology
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    • v.3 no.1
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    • pp.37-54
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    • 1987
  • The aim of surgery for all parotid masses is directed toward total removal of the tumor with adequate safe margins of adjacent normal tissue and preservation of the facial nerve whenever possible. Reconstructive procedures following parotidectomy for benign or low grade malignant lesions are most commonly necessary if soft tissue deficits appear at the angle of the mandible below the earlobe as a major cosmetic deformity. This is a report of Z4 cases with a diagnosis of parotid tumor who were treated using various surgical procedures at Department of Plastic and Reconstructive Surgery, Hanyang University Hospital over the period of 4 years from January, 1983 to December, 1986. Among 24 cases, 11 cases were reconstructed by Sternocleidomastoid muscle flap at the same time that extirpative surgery is outlined. The advantage of Sternocleidomastoid muscle flap is the coverage of the facial nerve, so adhesion between the facial nerve and skin was prevented. Absorption and loss of bulk was not found such as dermofat graft. It was a simple method. Neither donor site defect nor sternocleidomastoid muscle deformity was developed. Sternocleidomastoid muscle flap have been found satisfactory in maintaining filled-out soft tissue hollows with good result cosmetically and functionally.

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Study on the Siginificance and Importance of Preclinic Phase Theory(=mibyung) in Oriental Medicine (미병상태(未病狀態)의 학문적(學問的).임상적(臨床的) 중요성(重要性)과 의의(意義)에 대한 고찰(考察))

  • Lee Sun-Dong;Kim Myong-Dong
    • Journal of Society of Preventive Korean Medicine
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    • v.1 no.1
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    • pp.105-117
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    • 1997
  • The result of this paper runs as follows: 1. The theory of preclinic phase (=mibyung) was scientifically completed as one basic philosophy in "NAEKYUNG(內經)" and on influenced in the coming generations. Two principles for mibyung is to grow good energy and to avoid etiological cause. 2. So far oriental medicine has responded to already diseases, while to recognize the importance of mibyung is to convert it into preventive medicine which study and improve health. In spite of the opinion that no disease is health and no health is disease, the contrite of medical approch by the relative importance is necessary by understanding the steps of mibyung between health and disease with subdividing the steps of the occurance therefore, the scope of oriental medicine may be recognized from every disease to mibyung, that is, health. 3. Diagnosing and treating in the step of mibyung has more important meaning than suffering step because the checkup of mibyung means early examination and treatment. Mibyung can make an opportunity that improve scientific contradiction and defect of oriental medicine. However, scince the theory and practice lack the arrangement and study, much exertion and discussion is necessary.4. The diagnosis and cure in mibyung doesn't have many methods for treating, its index and standard isn't nified, and related theory is of small quantity. But the most prominent means of solution. with combination with other sciences and through the convertion into modem clinical examination, is to accomplish moderization, objectivity and indexation, etc. 5. The representive mibyungs are a hereditary disease, immune lack, mutation, early tumor, incubation of hepatitis and each infectious diseases, stress, etc. Since every science is the product of the times, it has the historical limits. As the times develop, the desire for good health is growing. Therefore we should consider above request in this times.

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