• Title/Summary/Keyword: 유전성 종양

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Study on relationship between "cholestrol·cardiorenal connective tissue weakness type" and TNF-alpha gene polymorphism in iris constitution analysis (홍채체질 분석에서 콜레스테롤·심신이 약한 체질과 TNF-alpha 유전자 다형성과의 상관성 연구)

  • Yoo, Chun-sang;Hwang, Woo-jun;Kim, Kyung-sik;Choi, Sung-yong;Kim, Jong-uk
    • Journal of Acupuncture Research
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    • v.21 no.2
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    • pp.89-101
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    • 2004
  • 홍채학은 대체의학의 한 분야로서 홍채 침착의 불규칙성을 주시함으로써 의학적 상태를 진단한다. 홍채학적 분류에 의한 체질은 가족력을 보이고 있으며 이는 홍채체질의 유전성을 의미한다. 강력한 면역조절자이며 전 염증성 사이토카인인 종양괴사인자(tumor necrosis factor-a, TNF-${\alpha}$)는 많은 병리적 과정에서 중요한 역할을 한다. 따라서 본 연구자는 고혈압환자에서 홍채체질과 TNF-${\alpha}$ 유전자 다형성과의 관련성을 조사하였다. 87명의 고혈압 환자와 79명의 정상인을 홍채체질에 따라 분류하였으며 이들의 TNF-${\alpha}$ 유전자형을 분석하였다. 결과적으로 정상인에 비하여 TNF-${\alpha}$ GA 이형접합체의 빈도가 고혈압 환자군에서 감소하였다. 이 같은 결과는 TNF-${\alpha}$ 다형성이 고혈압에 대한 저항성과 관련 있음을 의미한다. 또한 고혈압환자에서 콜레스테롤 침착체질과 심신 결합조직 허약 체질은 42.5%로서 정상인 16.5%에 비하여 현저하게 증가하였다 (P<0.001). GG TNF-${\alpha}$ 유전자형을 갖고 있는 군에서 심신 결합조직 허약체질과 콜레스테롤 침착체질의 빈도는 정상인보다 환자에서 유의하게 높았다(P<0.001). 본 연구에서 저자는 홍채체질과 고혈압사이의 관련성을 발견함과 동시에 TNF-${\alpha}$ 유전자 다형성과 고혈압, 그리고 홍채 체질과의 관련성을 최초로 입증하였다.

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Review of osteochondroma: involved in temporomandibular joint (측두하악관절에 발생한 골연골종에 대한 고찰)

  • Lee, Gi-Ho;Song, Young-Gyun
    • Journal of Dental Rehabilitation and Applied Science
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    • v.30 no.1
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    • pp.28-35
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    • 2014
  • Osteochondroma is the most common benign bone tumor. The majority of osteochondromas (85%) present as solitary, nonhereditary lesions. In general, osteochondroma has no symptoms,however, facial asymmetry, malocclusion, crossbite and mouth opening can be occurred in case of temporomandibular joint involved. Radiologic analyses are indispensable element to diagnose osteochondroma and pathogenetic analysis showed that hereditary multiple osteochondromas are caused by mutations in either of two genes: exostosis(multiple)-1 (EXT1), which is located on chromosome 8q24.11 - q24.13 or exostosis(multiple)-2 (EXT2), which is located on chromosome 11p11 - 12. Recently, reduced mRNA of EXT1 was described in nonhereditary osteochondromas. The treatment of choice for osteochondroma is surgical unless the skeleton is still immature. Surgery associated with orthodontic treatment can be a valid approach to minimize facial asymmetry and malocclusion in case of temporomandibular with osteochondroma.

1-β-D-Arabinofuranosyl-cytosine Induces Chromosomal Breaks in vitro (In vitro에서 1-β-D-arabinofuranosyl-cytosine의 염색체 파열 유도)

  • Jeon, In-sang
    • Clinical and Experimental Pediatrics
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    • v.46 no.12
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    • pp.1186-1193
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    • 2003
  • Purpose : Fragile sites are points on chromosomes which tend to break non-randomly when exposed to specific chemical agents or conditions of tissue culture. The chromosomal break induced by the antineoplastic drug, 1-${\beta}$-D-arabinofuranosyl-cytosine(Ara-c), was investigated to study the laboratory conditions in which the incidence of chromosomal break could be enhanced. Besides, the fragile sites induced by Ara-C were investigated and compared to the already known locations of the specific chromosomal alterations observed in specific neoplasms. Methods : T-lymphocytes from theree normal males and three females were cultured for 48 hours. Cells from each individual were exposed to the Ara-C for an additional 24 hours. After the caffeine was added during the last six hours culture, the metaphase chromosomes were prepared following the conventional method. A site was considered fragile if it was found to break two or more per 100 chromosomal breaks in more than four of six individuals tested. Results : Ara-C induced 252.1 chromosomal breaks per 100 mitotic cells and this result was significantly higher than that of the control, which induced 25.2 breaks(P<0.05). The incidence of the chromosomal break by Ara-C was higher, if cultured in the MEM-FA, which has no folic acid, than in the RPMI 1640 which contains enough folic acid(P<0.05). The most common break site by Ara-C was 3p14.2(FRA3B). There were 20 fragile sites induced by Ara-C. Among these 20 fragile sites, seven coincided with the locations of the mapped oncogenes, JUN, SKI, REL, N-MYC, FHIT, MET, ETS-1, and FOS. Conclusion : S phase specific chemotherapeutic agent, Ara-C, induced the expression of the chromosomal fragile sites effectively using the T-lymphocyte in vitro. Some of the fragile sites by Ara-C highly coincided with the oncogenes and neoplasm specific chromosome breakpoints. In this regard, the fragile sites reported here could provide the unknown neoplasm related chromosomal alternation points.

ORAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1: CASE REPORT (제1형 신경섬유종증 환아의 구강내 병소의 치험례)

  • Gwon, Sun-Yeon;Kim, Tae-Wan;Kim, Young-Jin;Kim, Hyun-Jung;Nam, Soon-Hyeun
    • Journal of the korean academy of Pediatric Dentistry
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    • v.35 no.3
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    • pp.556-561
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    • 2008
  • Neurofibromatosis is an autosomal dominant disorder caused by a mutation of a tumor supressor gene on the long arm of chromosome 17. There are two types of neurofibromatosis, and development of neurofibroma is one of clinical diagnostic criteria for neurofibromatosis. The clinical signs of neurofibromatosis include as skin lesions, bone deformities, and tumors involving central nervous system. About 25% of neurofibromatosis involves oral neurofibroma. Radiographically, oral neurofibroma is well-defined unilocular radiolucency, which involves mandibular canal, mandibular foramen and mental foramen. When a lesion is small and approachable, complete resection, including 1cm of marginal connective tissue, is feasible. However, there are studies reporting that the recurrence rate after surgical resection is high and frequent recurrence may even increase the risk of malignant transformation. This case reports a patient with neurofibromatosis type I, accompanying oral neurofibroma, who shows a favorable result after surgical resection of the oral lesion.

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Prognostic Significance of $O^6$-MGMT and Promotor Hypermethylation in Patients with Soft Tissue Sarcomas (연부조직육종 환자에서 $O^6$-MGMT 와 촉진자 과메틸화의 예후적 중요성)

  • Suh, Jeung-Tak;Kim, Jeung-Il;Oh, Jong-Seok;Choi, Kyung-Un
    • The Journal of the Korean bone and joint tumor society
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    • v.15 no.1
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    • pp.13-25
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    • 2009
  • Purpose: The DNA repair protein, $O^6$-methylguanine-DNA methyltransferase (MGMT), removes alkyl adducts from the $O^6$ position of guanine. Epigenetic inactivation of MGMT has been found in human neoplasia and considered one of the implicated factors in chemoresistance. Materials and Methods: Sixty-two patiensts with soft tissue sarcomas (STS) were analyzed for the status of MGMT protein expression by immunohistochemistry and the promoter hypermethylation of the MGMT gene using methylation-specific PCR. Result: The loss of MGMT expression was found in 20 cases (32.3%) of total 62 STS. MGMT promoter hypermethylation rate was 25.0% (11/44 cases). The loss of MGMT expression showed significant association with high AJCC stage, high FNCLCC grade, and aggressive behavior. However,when the group who received chemotherapy was analyzed (n=27), loss of MGMT expression was correlated with worse survival in multivariate analysis (p=0.024). MGMT promoter hypermethylation is associated with high FNCLCC grade. MGMT promoter hypermethylation status had a strong correlation with loss of MGMT expression (p=0.000). Conclusion: Our results suggest that MGMT promoter hypermethylation and loss of MGMT expression had a tendency to be associated with poor prognosis and that loss of MGMT protein expression is frequently occurs via MGMT promoter hypermethylation.

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A review of epigenetic nutrients on chronic inflammation associated with sarcopenic obesity in the elderly (노인의 저근육형 비만에 따른 만성염증 억제를 위한 후생유전학적 영양에 관한 고찰)

  • No, Jae Kyung
    • Korean Journal of Human Ecology
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    • v.22 no.1
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    • pp.181-188
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    • 2013
  • 노인에게서 두드러지게 나타나고 있는 저근육형 비만은 근육감소를 동반한 체지방의 증가로 신체상의 뚜렷한 체성분의 변화를 야기 시킨다. 이때 골감소증을 동반하여 신체기능의 감소 및 골절장애 그리고 대사성 관련 질환의 위험도가 올라가는 것으로 보고되고 있다. 노화로 인한 체성분의 변화는 단순한 저근육형일 경우와 비만일 때 보다 급격히 증가된 복부내장 지방조직에서 분비되는 염증성 사이토카인, C-반응성 단백질(CRP), 인터루킨(IL)-6, IL-8 및 종양 괴사 인자(TNF-${\alpha}$)들이 단백질 대사를 저해하여 근육량의 감소를 더욱 촉진시키며, 염증관련 대사질환의 유병률에 중요한 요인이다. 본 연구에서는 DNA 메틸화가 당뇨병, 심혈관질환, 암과 같은 만성염증성 질환에 관계하고 있다는 최근 연구 결과를 기초로 하여 항염증 영양소와 생리활성을 갖는 식품인자들의 충분한 섭취가 염증조절에 중요하게 기여할 것으로 생각되며, 또한 염증성 질환의 주요 표식자인 DNA 메틸화와 히스톤 변형을 유발하는 효소의 활성 또는 비 암호화된 RNA의 발현을 조절함으로써 근육량 증가와 체지방 감소에 중요한 역할을 하는 것을 살펴보았다. 따라서 최근 새롭게 인식되는 후생유전학적 연구의 중심에 있는 항염증 영양소의 효과와 체성분 변화와의 긍정적 관계를 중심으로 저근육형 비만의 예방 및 인구고령화에 건강한 노화를 위한 효과적인 방법을 제시하였다.

p53 Mutations in Ewing's Sarcoma (유잉육종의 p53 돌연변이)

  • Bae, Dae-Kyung;Sun, Seung-Deok
    • The Journal of the Korean bone and joint tumor society
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    • v.6 no.4
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    • pp.143-151
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    • 2000
  • Purpose : The p53 tumor suppressor gene is one of the most frequently altered genes in human malignancies. We try to explore the implication of p53 alteration in Ewing's sarcoma. Materials and Methods : We analyzed 35 paraffin blocks to explore the deletion and sequence alterations of p53. Results : Quantitative PCR analysis showed that 2 tumors showed a homozygous deletion of the gene. Mutational analysis of exons 4 to 9 of p53 by PCR-SSCP revealed that 3 tumors carry sequence alterations in exons 5 or 8, and DNA sequencing analysis identified missense point mutations. Conclusion : Taken together, our data demonstrate that p53 is genetically altered in a small fraction of Ewing's sarcoma.

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Osteopoikilosis - Case Report - (골반문증 - 증례 보고 -)

  • Sun, Doo-Hoon;Rhee, Seung-Koo;Lee, Kyung-Jin;Cho, Sung-Gil;Kwon, Soon-Yong
    • The Journal of the Korean bone and joint tumor society
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    • v.15 no.2
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    • pp.160-164
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    • 2009
  • The osteopoikilosis is a rare disorder characterized by multiple radiodensities in the metaphysis or in the epiphysis of long tubular bones. The etiology and pathogenesis remain obscure, generally transmitted as an autosomal dominant fashion. The osteopoikilosis is asympotomatic and it is usually found radiologically as an incidental finding. Our case shows a typical clinical feature of the osteopoikilosis, and the biopsy was done to differentiate other disease from the osteopoikilosis.

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Clinical Significance of the Expression of Oncosuppressor Gene Protein and Epidermal Growth Factor Receptor in Squamous Cell Carcinomas of Larynx (후두 편평세포암에서 암억제유전자 단백 및 상피성장인자 수용체 발현의 임상적 의의)

  • 정광윤;최종욱
    • Proceedings of the KOR-BRONCHOESO Conference
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    • 1993.05a
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    • pp.85-85
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    • 1993
  • The clinical staging system for laryngeal cancers is not sufficient for prognosticator due to different biologic characteristics and their microenvironment according to primary sites. For determining the prognosticators, the authors peformed immunohistochemical staining to EGFR, p53 protein, and pRB in 40 cases of surgically treated squamous cell carcinomas of larynx in our institute during the past 5 years. The results are as followings; 1. The positive expression rate of p53 protein and negative expression rate of pRB showed correlations with clinical parameters. 2. The three-year survival rate for p53 protein positive cases was worse than the p53 protein negative cases. 3. Expression rate of EGFR was not correlated with the clinical parameters. As a conclusion, expression rates of p53 protein and pRB not only reflect well the biologic behavior of laryngeal cancer, but correlate closely with the tumor factors. Therefore they may be useful as the prognosticator to predict the malignant potency of laryngeal squamous cell carcinomas.

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The First Korean Cancer Genetic Counseling Program for Nurses (국내 종양유전상담 간호사를 위한 단기 교육프로그램 개발)

  • Choi, Kyung-Sook;Anderson, Gwen;Jun, Myung-Hee
    • The Journal of Korean Academic Society of Nursing Education
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    • v.12 no.1
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    • pp.104-114
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    • 2006
  • Genetic knowledge for oncology nurses is important in Korea because oncologists are incorporating genetic counseling and genetic testing into their practice. The purpose of this paper is to describe our method of developing the first academic cancer genetic risk assessment and counseling course for Korean nurses. A one-week (non-credit) cancer genetics counseling program was constructed for master's level Korean oncology nurses. The course emphasized basic genetic concepts and principles the genetics of cancer; hereditary cancer syndromes; family history assessments; pedigree construction; risk calculation; surveillance recommendations and treatment options ethical, legal, social, and psychological issues inherent in genetic testing. The goals of this program are to: 1) provide a comprehensive knowledge base for nurses who are currently expanding their scope of practice into the genetic counseling role 2) introduce this knowledge to nurses who want to use it in their practice; and 3) provide cancer genetic knowledge and resources to Korean nursing faculty who plan to incorporate this knowledge into existing master's courses. This academically-based course is recognized as valuable by nurses, nursing faculty, and physicians. With this new knowledge nurses can begin toexpand their role in delivering comprehensive cancer care services.

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