• 제목/요약/키워드: hereditary

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연골육종을 동반한 다발성 외골증 (증례보고 및 문헌고찰) (Hereditary Multiple Exostosis with Chondrosarcomatous Change (Report of One Case))

  • 황미수;최원희
    • 농촌의학ㆍ지역보건
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    • 제8권1호
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    • pp.88-92
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    • 1983
  • Hereditary multiple exostosis is familial disturbance in the growth of cartilagenous bone tissue, most marked at the metaphyseal region of long bone. In most of the reported cases, the disease appears to have been transmitted through the male. And chondrosarcomatous transformation of the exostotic area is not uncommon, particularly in adult subjects.

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A Note on c-Separative Modules

  • Chen, Huanyin
    • Kyungpook Mathematical Journal
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    • 제47권3호
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    • pp.357-361
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    • 2007
  • A right R-module P is $c$-separative provided that $$P{\oplus}P{{c}\atop{\simeq_-}}P{\oplus}Q{\Longrightarrow}P{\simeq_-}Q$$ for any right R-module Q. We get, in this paper, two sufficient conditions under which a right module is $c$-separative. A ring R is a hereditary ring provided that every ideal of R is projective. As an application, we prove that every projective right R-module over a hereditary ring is $c$-separative.

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유전성 외배엽 이형성증 환자 수복에 관한 계속적 연구 (LONGITUDINAL PROSTHODONTIC STUDY OF HEREDITARY ECTODERMAL DYSPLASIA - 6 YEAR STUDY -)

  • 이진걸;양재호
    • 대한치과보철학회지
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    • 제29권1호
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    • pp.249-254
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    • 1991
  • Two male patients of hereditary ectodermal dysplasia with oligodontia aged 12years and 10years 6months were recalled after 6 years and treated by reconstructing overdentures according to the growth. Patients were improved functionally and cosmetically. Periodic recall is reguired and denture should be reconstructed according ato their growth.

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고위험 유전성 유방암을 지닌 한국계 미국 여성의 질병경험 (Experiences of Korean-American Women with High Risk Hereditary Breast Cancer)

  • 최경숙;전명희
    • 종양간호연구
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    • 제12권2호
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    • pp.175-185
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    • 2012
  • Purpose: This micro-ethnographic study aimed to understand coping experiences of Korean-American (K-A) women after diagnosis with breast cancer due to a hereditary gene mutation. Methods: Participatory observation and in-depth interviews were performed at one breast cancer screening center in Southern California, in 2005 with eleven first generation K-A immigrant women. All transcribed interviews and field notes were analyzed using ethnographic methodology. Results: K-A women's experience varied based on acculturation risk factors including: limited English speaking ability; disrupted family relationships, individualistic family values, or intergenerational communication barriers; lack of Korean speaking nurses; and Korean physicians' who lacked knowledge about hereditary breast cancer risk. These risk factors led to isolation, loneliness, lack of emotional and social support. In comparison to Korean homeland women in a similar medical situation, these K-A immigrants felt disconnected from the healthcare system, family support and social resources which increased their struggling and impeded coping during their survivorship journey. These women were not able to access self-support groups, nor the valuable resources of nurse navigator programs. Conclusion: Professional oncology associations for nurses and physicians have a moral obligation to support and promote knowledge of hereditary cancer risk and self-help groups for non-native speaking immigrants.

마이코플라즈마 폐렴에 의해 용혈성 빈혈이 발현된 유전성 구상 적혈구증 1례 (A Case of Hereditary Spherocytosis with Hemolytic Anemia due to Mycoplasma pneumonia)

  • 나혜연;신선희;이규만;김광남
    • Pediatric Infection and Vaccine
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    • 제16권2호
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    • pp.215-219
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    • 2009
  • 5-14세에 호발하는 마이코플라즈마 폐렴은 20-25%에서 폐외 증상을 일으키는 것으로 알려져 있으며 이 중 혈액계 질환에는 용혈성 빈혈, 혈소판 감소증, 혈구포식세포 증식증(hemophagocytosis) 등이 있다. 마이코플라즈마 폐렴에서의 냉항체에 의한 자가면역성 용혈로 용혈성 빈혈이 발생할 수 있으며, 이 때 항체의 역가와 용혈의 정도에 상관관계가 있을 수 있다. 저자들은 마이코플라즈마 폐렴에 의해 용혈성 빈혈이 발현된 유전성 구상 적혈구증 1례를 경험하였기에 보고하는 바이다.

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A Study on the Genetic Inheritance of Ankyloglossia Based on Pedigree Analysis

  • Han, Soo-Hyung;Kim, Min-Cheol;Choi, Yun-Seok;Lim, Jin-Soo;Han, Ki-Taik
    • Archives of Plastic Surgery
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    • 제39권4호
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    • pp.329-332
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    • 2012
  • Background Ankyloglossia or tongue-tie is a congenital anomaly characterized by an abnormally short lingual frenum. Its prevalence in the newborn population is approximately 4%. Its mode of inheritance has been studied in some articles, but no conclusion has been established. Also, no relevant report has been published in Korea. This study was conducted to elucidate the genetic inheritance of ankyloglossia via pedigree analysis. Methods In this study, 149 patients with no other congenital anomaly who underwent frenuloplasty between March 2001 and March 2010 were studied. Pedigrees were made via pre- or post-operative history taking, and patients with uncertain histories were excluded. In the patient group that showed a hereditary nature, the male-to-female ratio, inheritance rate, and pattern of inheritance were investigated. Results One hundred (67.11%) of the patients were male and 49 (32.89%) were female (male-female ratio=2.04:1). Ninety-one (61.07%) patients reported no other relative with ankyloglossia, and 58 (38.93%) patients had a relative with this disease. The inheritance rate was 20.69% in the 58 cases with a hereditary nature. In the group with no family history of ankyloglossia, the male-female ratio was 3.79:1, which significantly differed from that of the group with a family history of ankyloglossia. X-chromosome mediated inheritance and variation in the gene expression was revealed in the pedigree drawn for the groups with hereditary ankyloglossia. Conclusions Ankyloglossia has a significant hereditary nature. Our data suggest X-linked inheritance. This study with 149 patients, the first in Korea, showed X-linked inheritance in patients with a sole anomaly.

Hereditary Breast Cancer in Korea

  • Kim, Sung-Won
    • Journal of Genetic Medicine
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    • 제9권1호
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    • pp.1-10
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    • 2012
  • About 7% of all breast cancer (BC) cases result from a genetic predisposition, and approximately 1,000 patients develop hereditary BC (HBC) every year in Korea. BRCA1 and BRCA2 are the primary genes underlying HBC. The average cumulative risks in BRCA1 mutation carriers at 70 years of age are 65% (95% confidence interval 44-78%) for BC and 39% (18-54%) for ovarian cancer (OC). The corresponding estimates for BRCA2 are 45% (31-56%) and 11% (2.4-19%), respectively. The penetrance of BRCA mutations is not the same between patients and can depend on factors such as race and birth-cohort. The Korean Hereditary Breast Cancer (KOHBRA) study is a large prospective nationwide study that includes 39 participating centers. Between May 2007 and May 2010, the first phase of the KOHBRA study was planned and fulfilled successfully. The primary aim of phase I was to estimate the prevalence of BRCA1/2 mutations and OC among a high-risk group of patients with HBC and their families. According to data collected during phase I of the study, the prevalence and penetrance of BRCA mutations were comparable to corresponding data from Western countries. For the second phase of the KOHBRA study, we are currently investigating a Korean BRCA mutation prediction model, prognostic factors in BRCA-related BC, environmental/genetic modifiers, and implementing a genetic counseling network. The final goal of the KOHBRA study is to create clinical practice guidelines for HBC in Korea. In this article, I review the genetics of HBC, summarize the characteristics of Korean HBC, and discuss current and future HBC research in Korea.

Hereditary Genes and SNPs Associated with Breast Cancer

  • Mahdi, Kooshyar Mohammad;Nassiri, Mohammad Reza;Nasiri, Khadijeh
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권6호
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    • pp.3403-3409
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    • 2013
  • Breast cancer is the most common cancer among women affecting up to one third of tehm during their lifespans. Increased expression of some genes due to polymorphisms increases the risk of breast cancer incidence. Since mutations that are recognized to increase breast cancer risk within families are quite rare, identification of these SNPs is very important. The most important loci which include mutations are; BRCA1, BRCA2, PTEN, ATM, TP53, CHEK2, PPM1D, CDH1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PMS1, PMS2, BRIP1, RAD50, RAD51C, STK11 and BARD1. Presence of SNPs in these genes increases the risk of breast cancer and associated diagnostic markers are among the most reliable for assessing prognosis of breast cancer. In this article we reviewed the hereditary genes of breast cancer and SNPs associated with increasing the risk of breast cancer that were recently were reported from candidate gene, meta-analysis and GWAS studies. SNPs of genes associated with breast cancer can be used as a potential tool for improving cancer diagnosis and treatment planning.

Studies on the Hereditary Properties of SSR Marker in Silkworm (Bombyx mori L.)

  • Li Muwang;Li Minghui;Miao Xuexia;Lu Cheng;Huang Yongping
    • International Journal of Industrial Entomology and Biomaterials
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    • 제11권1호
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    • pp.49-55
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    • 2005
  • Two BC1 group, c108 $\times$ (p50 $\times$ c108) and p50 $\times$ (p50 $\times$ c108), one group of F$_{2}$ progeny, (p50 $\times$ c108) F$_{2}$ ,and 3 SSR markers, F10539, FlO626 and FlO618 were used to test the hereditary properties of SSR markers in silkworm. FI0539, FlO626 were proved to be linkage, and FlO618 was proved to be independent to those two markers. According to Mendel's law, the recombinant value between F10539, FlO626 was calculated in all of these groups, and they were 8.55$\%$ (c108BC1), 8.02$\%$ (p50BC1) and 7.81 $\%$ (F$_{2}$) respectively. There was dominant difference among the crossing-over value using paired-samples tests by SPSS 10.0 software. This research proved that SSR markers were co-dominant in B. mori too, and F 2 progeny could be used to construct SSR linkage map although B. mori lacked of crossing over in females.