• 제목/요약/키워드: Atypical form

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Female Carriers of Duchenne Muscular Dystrophy

  • Cho, Yu Na;Choi, Young-Chul
    • Journal of Genetic Medicine
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    • 제10권2호
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    • pp.94-98
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    • 2013
  • Dystrophinopathy, caused by mutations in the DMD gene, presents with variable clinical phenotypes ranging from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy(BMD) forms. DMD is a recessive X-linked form of muscular dystrophy. Two-thirds of mothers of affected males are thought to be DMD carriers. Approximately 2.5-7.8% of female DMD carriers have muscle weakness and are categorized as manifesting DMD carriers. The symptoms of female carriers of DMD range from mild muscle weakness to severe gait problems. The most commonly presented symptom is mild proximal muscle weakness, which is often asymmetric and progressive, but shows variable clinical spectrum with BMD of more severe DMD-like phenotype. Atypical presentations in manifesting carriers are myalgia or cramps without limb weakness, isolated cardiomyopathy and camptocormia. Multiplex PCR and MLPA analysis are common techniques to identify mutations in the DMD gene. Relationship between X-chromosome inactivation and clinical severity is not clear. Female carriers of DMD are not less common, and they have an important role of birth of a male DMD.

Erdheim-Chester Disease Presenting as an Anterior Mediastinal Tumor without Skeletal Involvement

  • Lee, Kanghoon;Kim, Hyeong Ryul;Roh, Jin;Ok, You Jung;Jeon, Bo Bae;Kim, Young Woong
    • Journal of Chest Surgery
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    • 제51권3호
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    • pp.223-226
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    • 2018
  • Erdheim-Chester disease (ECD) is a form of non-Langerhans cell histiocytosis that most commonly involves the skeletal system. We report an unusual case of ECD presenting as an anterior mediastinal tumor without skeletal involvement. A 60-year-old man with no remarkable medical history was referred for evaluation of a mediastinal mass. The patient underwent surgical excision of the tumor via video-assisted thoracoscopic surgery. Histologic examination revealed marked proliferation of atypical histiocytes with sclerosis, and the results of immunohistochemical staining were suggestive of ECD.

벤츠 패턴을 가진 두개골 조기 유합증: 증례보고 (Mercedes Benz Pattern Craniosynostosis: A Case Report)

  • 류석태;임소영;문구현
    • Archives of Plastic Surgery
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    • 제38권5호
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    • pp.683-686
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    • 2011
  • Purpose: Craniosynostosis of three or more cranial sutures was not common. "Mercedes Benz pattern," named by Moore1 was a rare form of craniosynostosis and had an atypical pattern of premature closure of cranial suture. It was not reported in Republic of Korea. We report this case with literature review. Methods: A 13-months-old male patient visited our clinic due to exophthalmos. He showed normal developmental course. Other neurological tests were normal but he was Crouzon syndrome patient. CT scans showed bilateral lambdoid and posterior sagittal sutures were fused and the length of the skull was extended. Cranioplasty with pi craniotomy & Barrel-Stave osteotomy and recombination of the bone flap was performed. Results: The patient was discharged after post operative 10 days without any complications. In follow up visit after 2.7 years, he was in good state without recurrence and functional abnormality of skull. Conclusion: This was the first case of Mercedes Benz pattern craniosynostosis with Crouzon syndrome in Korea. This type of craniosynostosis has to be considered differently from single type of craniosynostosis or typical syndromic craniosynostosis clinically and surgically.

디자인 카펫의 표현 유형 분석에 관한 연구 (A Study on the Analysis of Expression Types of Design Carpet)

  • 김성달;심계은
    • 패션비즈니스
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    • 제25권4호
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    • pp.141-150
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    • 2021
  • Recently, interest of consumers in home furnishing products has increased steadily because of the increased time spent at home due to COVID-19. Among them, carpets made of various materials and technologies are becoming popular interior item. Academic and industrial sectors agreed on the need to produce premium design carpets. Prior research on carpet design was mostly focused on patterns, history, with insufficient investigations on the type. Therefore, the purpose of this study was to provide basic data to develop premium design carpets by analyzing their expression types. To analyze expression types, this study covered about 400 design carpets surveyed on the websites of eight major carpet companies from January 2021 to March 2021. Based on the analysis results, the five expression types of are as follows. Firstly, the expression type was expressed in various atypical forms that was deviated from the formal form. Secondly, it was a type that improves visual and tactile effects through a variety of 3-D textures. Thirdly, it was a type of diversification of motifs, which was based on the works of artists and designers in various fields. Fourthly, it was a type that combines two or more different materials and techniques. Finally, it was a modular type that can be applied in various ways to various spaces. Based on the analysis results of this study, it is hoped that the data will be helpful to produce premium design carpets in Korea.

세 가지 평면 형상에 따른 비틀림 비정형 빌딩구조물의 지진응답 분석 (Seismic Response Analysis of Twisted Buildings with Three Planar Shapes)

  • 이다혜;김현수;강주원
    • 한국공간구조학회논문집
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    • 제21권4호
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    • pp.23-30
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    • 2021
  • In this paper, a twisted shape structure with an elevation form favorable to the resistance of vibration caused by wind loads is selected from among the forms of high-rise buildings. The analytical model is a square, triangular, and hexagonal plane with a plane rotation angle of one degree from 0 to 3 degrees per each story. As a result of the analysis, as the twist angle increased, story drift ratio is increased. Responses with different eccentricity rates were shown by analytical models. Therefore planar shapes designed symmetrically to the horizontal axis of X and Y are considered advantageous for eccentricity and torsion deformation. In the case of the bending moment of the column, the response was amplified in the column supporting the base floor, the roof floor, the floor in which the cross-section of the vertical member changes, and the floor having the same number of nodes as the base floor. Finally, the axial force response of the column is determined to be absolutely affected by the gravity load compared to the lateral load.

Radial forearm free flap in a patient with an unusual radial artery variation: a case report

  • Menichini, Giulio;Calabrese, Sara;Alfonsi, Nicola;Innocenti, Marco
    • Archives of Plastic Surgery
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    • 제48권6호
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    • pp.646-650
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    • 2021
  • Head and neck reconstruction poses unique challenges in rehabilitating surgical defects in terms of integrity, function, and form. The radial forearm free flap (RFFF) has been widely used for defect coverage, especially in the head and neck area, but its versatility allows it to be used for soft-tissue reconstruction in various parts of the body. The vascular features of the flap are quite constant and reliable. Nevertheless, abnormalities of the forearm vascular tree have been described over the decades. We report a case of intraoral reconstruction after verrucous carcinoma recurrence in a 74-year-old woman with an unusual forearm flap, which we called the median forearm free flap, based on a median branch of the radial artery that was preoperatively detected using handheld Doppler ultrasonography. The distally located skin paddle was predominantly supplied by the aberrant median vessel with its perforators. The flap was thus safely harvested with this atypical pedicle. Successful reconstruction of the intraoral defect was achieved, with an uneventful postoperative course.

의복구성학적 측면에서의 지속가능한 패션 디자인 프로토 개발 - 패턴 수업을 중심으로 - (Sustainable Fashion Design Prototype Development in Terms of Clothing Composition -Focused on Pattern Classes-)

  • 박유신;김지혜
    • 패션비즈니스
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    • 제24권5호
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    • pp.125-139
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    • 2020
  • The fashion industry that perceived the severity of environmental pollution, has sought various methods of sustainable fashion. However, most of the businesses paid attention to the development of materials using industrial waste, or vegan material. Thus, this study aims to present the methods for improvement in creativity for inversely developing the design from patterns and present new approaches by applying the contrarian development of proto to class under the limited condition of material concerning general design, selection of material, and production of sample. In the case of three student teams enrolled in the first semester of the second year, the fabric and used clothing donated by industry were used as material. The whole cut for cutting a single fabric in connected state, and Zero Wastes Design within a rectangular frame of fabric, upcycling of used clothes, and cutting out of Geometric Form are suggested. The team(A) produced a zero-wastes coat and whole-cut Pancho that could be variously represented. The team(B) produced two kinds of asymmetric dress by utilizing used check-patterned shirts through upcycling. The team(C) utilized the fabric in geometric forms such as rectangle, trapezoid, and atypical figure by drawing design within donated fabrics. The items were a dress, blouse, and skirt. Consequently, an opportunity for both academia and industry to present more concrete methods for sustainable fashion and deeply perceive the sustainable fashion is presented along with novel methods for creation by carrying out the composition of pattern and design at the same time.

자궁경부의 염증 및 종양병변에서 Epstein-Barr 바이러스의 검출 (Detection of Epstein-Barr virus in the inflammatory and neoplastic uterine cervical lesions)

  • 정혜진;이응석;림정화;박설희;강재성;김인선
    • 대한세포병리학회지
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    • 제12권2호
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    • pp.73-80
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    • 2001
  • The prevalence of Epstein-Barr virus(EBV) in the uterine cervix was investigated to define the possible etiologic role in cervical carcinogenesis. The viral genotyping and LMP-1 30bp deletion were also stooled. The materials included 169 uterine cervical swabs(152 within normal limits, 12 atypical squamous cells of uncertain significance, 3 low grade intraepithelial lesions, and 2 high grade squamous intraepithelial lesion) and 104 uterine cervical tissues obtained from hysterectomy specimens(32 carcinoma in situ, 9 microinvasive squamous cell carcinomas, 37 invasive squamous cell carcinomas, 7 adenocarcinomas, 7 adenosquamous carcinomas, and 12 cervicitis). EBV detected by PCR for EBNA-1 was positive in 52(56.5%) of 92 invasive and noninvasive cervical carcinomas, and 80(48.8%) of 164 inflammatory or normal cervices. The viruses detected in carcinomas were all type A, and LMP-1 30bp deletion form was more frequent in premalignant and malignant cervical lesions than in nonneoplastic cervices. From the above results, it may be concluded that EBV is one of common viruses detected in uterine cervix of Korean women, and type A virus and LMP-1 30bp deletion form may have a role in cervical carcinogenesis.

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Inflammation, Oxidative Stress and L-Fucose as Indispensable Participants in Schistosomiasis-Associated Colonic Dysplasia

  • Soliman, Nema Ali;Keshk, Walaa Arafa;Shoheib, Zeinab Salah;Ashour, Dalia Salah;Shamloula, Maha Moustafa
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권3호
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    • pp.1125-1131
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    • 2014
  • Background: Schistosomiasis is a parasitic disease causing chronic ill health in humans with a serious consequences for socio-economic development in tropical and subtropical regions. There is also evidence linking Schistosoma mansoni to colonic carcinoma occurrence. The aim of this study was to evaluate some inflammatory and oxidative stress biomarkers, as well as L-fucose as linkers between intestinal schistosomiasis and colonic dysplasia development in mice. Materials and Methods: This study was conducted upon 80 mice that were divided the control group (10 non infected mice) and infected group which was subdivided into 7 sub-groups (10 mice each) according to the time of sacrifaction in the post infection (p.i.) period, 10 mice being sacrificed every two weeks from 6 weeks p.i. to 18 weeks p.i. Tumor necrosis factor alpha (TNF-${\alpha}$), inducible nitric oxide synthase (iNOS), and pentraxin 3 (PTX3) levels were estimated by immunoassay. The L-fucose level, and thioredoxin reductase (TrxR) and lactate dehydrogenase (LDH) activities were also evaluated in colonic tissue. Results: The current study revealed statistically significant elevation in the studied biochemical markers especially at 16 and 18 weeks p.i. The results were confirmed by histopathological examination that revealed atypical architectural and cytological changes in the form of epithelial surface serration and nuclear hyper-chromatizia at 14, 16 and 18 weeks p.i. Conclusions: inflammation, oxidative stress and L-fucose together may form an important link between Schistosomal mansoni infection and colonic dysplasia and they can be new tools for prediction of colonic dysplasia development in experimental schistosomiasis.

현대물리학의 패러다임과 건축 디자인의 개념 변화 (The Changes of Architectural Design Concept by the Paradigm of Modern Physics)

  • 이승용
    • 한국산학기술학회논문지
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    • 제13권1호
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    • pp.425-430
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    • 2012
  • 물리학의 이론들은 사회 현상을 바라보는 관점과 밀접한 관계가 있다. 이 이론들은 건축에도 영향을 주었다. 본 연구에서는 물리학의 사고가 건축 디자인에 영향을 준 내용을 고찰하고, 상호 연관성을 확인하고자 한다. 연구 내용을 보면 입자 중심의 사고인 고전물리학은 19세기 초반의 건축에서 균질공간으로 나타나고, 건축의 특징은 절대 공간 속에서 장소와 관계없이 기하학적이고 건물에 제한된 내용으로 이해하고 세워졌다. 반면 현대 건축은 현대물리학의 장이론과 양자역학, 그리고 상대성 이론 등의 사고와 관계가 있다. 따라서 건축을 바라보는 관점이 영역성, 상호성 및 시간성 등으로 이해하게 되었으며, 이것의 영향으로 다양하고 비정형 등의 내용으로 건축이 세워지고 있다. 연구를 통해 건축과 물리학의 사고는 상호 연관이 있으며, 현대건축의 디자인에 나타나는 건축적 사고는 현대물리학의 이론에서 보여 지고 있는 패러다임 내용이 적용된 것을 알 수 있다.