• 제목/요약/키워드: Defects diagnosis

검색결과 361건 처리시간 0.028초

A Study on Chromosomal Mosaicism Detected through Cytogenetic Analysis

  • Hwang, Si-Mok;Kwon, Kyoung-Hun;Yoon, Kyung-Ah
    • 대한의생명과학회지
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    • 제17권2호
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    • pp.129-134
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    • 2011
  • Mosaicism is the presence of two or more chromosomally distinct cell lines, each seen in two or more cells. Chromosomal mosaicism presents one of the most difficult problems in prenatal cytogenetic diagnosis, requiring the differentiation of true mosaicism from pseudomosaicism. To overcome associated problems we investigated 24 cases (amniotic fluid 13 cases, abortus tissue 3 cases, peripheral blood 8 cases) in which mosaicism has been found in cytogenetic analysis. 5 cases (38.5%) of 13 amniotic fluid cells in which mosaicisms showed single cell pseudomosaicism. Chromosomal true mosaicism is found in about 0.28% (8/2,826) of amniotic fluid cell cultures. The 24 cases involved 12 cases (50%) with sex chromosomal abnormalities, 7 cases (29.2%) with autosomal structural defects, 3 cases (12.5%) with autosomal abnormalities, 2 cases (8.3%) with a supernumerary marker. Mosaicism detected in amniotic fluid may represent the true mosaicism or may pseudomosaicism. If the same chromosome abnormality is seen in more than one cell and in two different cultures, it is considered a true mosaicism, whereas single-cell abnormalities from a single culture are regarded as pseudomosaicism. In this study, we describe a mosaicism in chromosome analysis, its diagnostic problems and clinical significance.

보일러용 고강도 T23강의 용접부 손상 원인 분석 (Diagnosis of cracking in T23 welds for power plant application)

  • 박기덕;안종석;신동혁;이창희
    • 대한용접접합학회:학술대회논문집
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    • 대한용접접합학회 2009년 추계학술발표대회
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    • pp.61-61
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    • 2009
  • This paper has been performed in order to figure out the reason of failure in T23 weldments used for boiler tube at 550 $^{\circ}C$. Defects such as cracks and cavities occurred in CGHAZ (coarse grain heat-affected-zone) and multi pass of weld metal, and these crack propagated along grain boundary. Microstructure evolution such as grain growth and carbide precipitation was investigated by optical microscope (OM), transmission electron microscope(TEM). Moreover, Auger electron spectroscope (AES) was employed in order to examine segregation along the grain boundaries. There is significant difference in grain size and precipitation distribution in the region where cracking took place. In addition, sulfur segregation was observed. Based on the results of this investigation, it has been possible to establish that this type of cracks were consistent with reheat cracking and creep damage. Selection of optimal filler metal, heat input, and PWHT temperature is required for prevention in order to avoid this type of cracking.

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분포 통계 해석에 의한 계면 결함 부분방전 진단 (Partial Discharge Diagnosis of Interface Defect by the Distribution Statistical Analysis)

  • 조경순;이강원;김원종;홍진웅;신종열
    • 한국전기전자재료학회논문지
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    • 제21권4호
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    • pp.348-353
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    • 2008
  • Most of the high voltage insulation systems, such as the power cable joint having hetero interface, are composed of more than two different insulators to improve insulating performance. The partial discharge(PD) in these hetero interface is expected to affect the total insulation performance. Thus, it is important to study electrical properties on these interfaces. This study described the influence of copper and semiconductive substance defects on $\Phi$-q-n distribution between the interface of the model cable joints to classify PD source. PD was sequentially detected for 600 cycles of the applied voltage. The K-means cluster analysis has been analyzed to investigate the $\Phi$-q-n distribution. The skewness-kurtosis(Sk-Ku) plot from K-means clustering results was defined to quantify cluster distribution and classify distribution patterns. The Sk-Ku plot is composed of skewness and kurtosis along abscissa and ordinate which indicate the asymmetry and the sharpness of distribution. As a result of the Sk-Ku plot, it was confirmed that the data was distributed in 1st 2nd and 3rd quadrant at copper foreign substance defect, but in case of semiconductive foreign substance, the data was distributed in 2nd quadrant only.

공동주택의 장기수선계획을 위한 유지관리시스템 (Maintenance Management System for Long-range Planning of Apartment Buildings)

  • 이종균
    • KIEAE Journal
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    • 제3권3호
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    • pp.67-74
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    • 2003
  • The repair and maintenance planning is the principal transaction to prevent from the degradation of apartment buildings to prolong their lives. Various building components as part of living area should be maintained properly and timely before critical defects are realized, then the building life might be extended until the limit of its usability. In other words, various building components such as utilities, finishes and structural members are needed to be repaired and replaced in different time interval after completion. To do this systematically, a maintenance management system for Long-Range Planning (LRP) needs developing. The LRP should be figured out based on the forecast of repairing and replacing cycle of building components according to work trades. And the precise forecast of repairing and replacing time of the components helps to enhance the usability of the developed system. The purpose of this paper is to suggest a system with which apartment building managers carry out the tasks of periodical check, diagnosis and replacement of building components based on the maintenance calendar. By using the system, they can easily forecast repairing and replacing time of the components with the consideration of life cycle of building materials and build the LRP.

음향방출 계측법을 이용한 프랙탈 특성과 트리잉 파괴진단에 관한 연구 (A Study on the Diagnosis of Treeing Breakdown and Fractal Characteristics Using the Method of Acoustic Enission)

  • 김성홍;심종탁;김재환
    • 한국조명전기설비학회지:조명전기설비
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    • 제11권6호
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    • pp.50-56
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    • 1997
  • 전극들과 절연재료 사이의 결합과 고분자 절연체 내부에서 여러 가지 결함에 의한 부분 방전이 발생함으로 일어날 수 있는 절연 재료의 트리 열화를 파괴 예지할 목적으로 하였다. 부분 방전에 기인한 트리잉은 절연 재료의 파괴를 일으킬 수 있는 중요한 원인 가운데 하나다. 최근에는 절연 파괴 예지와 절연 재료의 열화 진단을 하는 방법이 중요하게 되었다. 연구 목적은 자동 계측 시스템을 사용하여 인가전압 11[kV], 인공적인 침상보이드(1.5[mm])을 지닌 고분자 절연체 내부에서 음향 방출시스템과 프랙탈 차원을 사용하여 트리 현상을 관찰하였다. 따라서 본 논문에는 최소자승법에 의한 회귀분석을 사용하여 위상각-음향방출 펄스크기-열화시간 양상과 위상각-음향방출 펄스수-열화시간과 프랙탈 차원의 관계를 통하여 파괴가 발생하기 전의 파괴 예지법으로 사용하였다.

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Coronary artery vasospasm after atrial septal defect surgery

  • Yoon, Jin Won;Lee, Young Soo;Kim, Dong Keun;Choi, Young Hoon;Kim, Dong-Ju;Lee, Jae Jin;Ahn, Hyo Seung;Cho, Wook Hyun
    • Journal of Yeungnam Medical Science
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    • 제31권2호
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    • pp.122-126
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    • 2014
  • Coronary vasospasm is one of the fatal complications that may occur in patients undergoing open heart surgery. To date, however, there are not many cases in this series and no definite pathophysiology has been documented. We experienced a case of coronary artery vasospasm after atrial septal defect (ASD) surgery and then successfully treated it with both transbrachial intraaortic balloon pump and percutaneous cardiopulmonary support. Only several hours after ASD surgery, the patient exhibited the cardiovascular collapse, the ST-segment elevation, followed by ventricular fibrillation and normal coronary angiography findings. It is important to make a differential diagnosis of coronary artery vasospasm in patients presenting with ST-segment elevation who had no notable coronary artery diseases. This case indicates that clinicians should be aware of the possibility that the coronary artery vasospasm may also occur in patients undergoing ASD surgery.

A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

  • Lee, Min Ju;Suh, Chae Ri;Shin, Jeong Hee;Lee, Jee Hyun;Lee, Yoon;Eun, Baik-Lin;Yoo, Kee Hwan;Shim, Jung Ok
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • 제22권6호
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    • pp.581-587
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    • 2019
  • Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result of mutations in the VPS33B (Vacuolar protein sorting 33 homolog B) or VIPAR (VPS33B interacting protein, apical-basolateral polarity regulator) genes. A female infant presented with neonatal cholestasis with a severe clinical outcome. She was diagnosed with ARC syndrome using targeted exome sequencing (TES). Exome sequencing revealed compound heterozygous mutations, c.707A>T and c.239+5G>A, in VPS33B, where c.707A>T was a novel variant; the resultant functional protein defects were predicted via in silico analysis. c.239+5G>A, a pathogenic mutation that affects splicing, is found in less than 0.1% of the general population. Invasive techniques, such as liver biopsies, did not contribute to a differential diagnosis of ARC syndrome; thus, early TES together with clinical presentations constituted an apparently accurate diagnostic procedure.

Accidental intracerebral injection and seizure during scalp nerve blocks for awake craniotomy in a previously craniotomized patient -a case report-

  • Lee, Woo Kyung;Kim, Hyunzu;Bae, Myung-Il;Choi, Seung Ho;Min, Kyeong Tae
    • Korean Journal of Anesthesiology
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    • 제71권6호
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    • pp.483-485
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    • 2018
  • A 34-year-old man who previously underwent a craniotomy due to oligodendroglioma was admitted with a diagnosis of recurrent brain tumor. An awake craniotomy was planned. Approximately 15 minutes after completing the scalp nerve block, his upper torso suddenly moved and trembled for 10 seconds, suggesting a generalized clonic seizure. He recovered gradually and fully in 55 minutes without any neurological sequelae. The emergency computed tomography scan revealed a localized fluid collection and small intracerebral hemorrhage nearby in the temporoparietal cortex beneath the skull defect. He underwent surgery under general anesthesia at 8 hours after the seizure and was discharged from the hospital after 10 days. This report documents the first case of generalized seizure that was caused by the accidental intracerebral injection of local anesthetics. Although the patient recovered completely, the clinical implications regarding the scalp infiltration technique in a patient with skull defects are discussed.

Prevention and treatment of microstomia

  • Sae Hwi Ki;Tae Jun Park
    • 대한두개안면성형외과학회지
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    • 제25권3호
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    • pp.105-115
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    • 2024
  • The mouth, located in the lower third of the face, is a uniquely visible structure. It serves as a vital organ both aesthetically and functionally, playing a key role in speech, expression, and fundamental oral functions. Consequently, any alterations or defects in its shape, due to various causes, can lead to aesthetic and functional deficiencies. These issues may also result in challenges with social interactions and a decrease in confidence. In cases of microstomia, various surgical approaches are proposed based on the location, extent, shape, and cause of the defect, leading to numerous case reports. Plastic surgeons are proficient in oral reconstruction; however, cases of microstomia are relatively rare, which reduces their familiarity and interest in these cases. Additionally, preferences for oral size and shape vary according to factors such as geographical region and ethnicity, further complicating the functional definition of microstomia. Therefore, both subjective patient and physician judgments play crucial roles in the diagnosis and treatment of microstomia, as these may vary depending on individual and societal aspects. This review aims to classify the various causes and definitions of microstomia, as well as its non-surgical and surgical treatment options, with the goal of the treatment of this condition.

뇌자기공명영상 검사를 통해 조기 발견된 제2형 뮤코다당증 1례 (A Case of Mucopolysaccharidosis Type 2 Diagnosed Early through Brain MRI)

  • 이윤경;조성윤;김진섭;허림;진동규
    • 대한유전성대사질환학회지
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    • 제15권2호
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    • pp.87-92
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    • 2015
  • 뮤코다당증(mucopolysaccharidosis)은 글리코사미노글리칸(glycosaminoglycans)의 분해에 필요한 리소좀 효소의 결함으로 인해 야기되는 질병으로 글리코사미노글리칸의 대사 산물이 세포의 리소좀 내에 축적되어 세포, 조직 그리고 기관의 기능 이상을 초래해 신체적, 신경학적인 퇴행을 보이며, 심한 경우 조기에 사망하게 되는 다양한 임상양상을 보이는 질환이다. 뮤코다당증 가운데 가장 높은 비율을 차지하는 헌터증후군(뮤코다당증 제2형)은 조기에 진단하여 효소보충요법을 시행하는 것이 중요하다. 본 증례는 언어발달지연과 등과 엉덩이에 몽고반점, 간비대, 두껍고 거친 피부가 있었으며 과성장된 신체 검진소견을 보였던 환아에서, 뇌자기공명영상 검사 결과에서 뇌교량체에 다수의 낭종, 백색질에 비정상 신호 증가 병변들, 미만성 뇌수축 소견을 보여 헌터증후군을 의심하였으며 효소검사 결과를 통해 확진하였다. 저자들은 언어발달지연을 주소로 내원한 환아에게 시행한 뇌자기공명영상에서 조기에 헌터증후군을 의심하여 효소검사를 통해 확진을 할 수 있었던 증례를 경험하였기에 이를 보고하는 바이다.