• Title/Summary/Keyword: Hereditary

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A Case of Hereditary Hemorrhagic Telangiectasia Diagnosed through Spontaneous Hemothorax (자발성 혈흉으로 내원하여 진단된 유전출혈모세혈관확장증 1예)

  • Kim, Chong-Whan;Park, Il-Hwan;Kwon, Woo-Cheol;Kim, Young-Joo;Jung, Soon-Hee;Lee, Shun-Nyung;Lee, Seok-Jeong;Lee, Ji-Ho;Jung, Sae-Hyun;Jung, Ye-Ryung;Kim, Sang-Ha
    • Tuberculosis and Respiratory Diseases
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    • v.72 no.1
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    • pp.50-54
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    • 2012
  • Hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu disease) is a rare autosomal dominant disease characterized by heterogenous multisystemic dysplasia of the vascular tissue. Prevalence of HHT is 1 in 5,000~8,000. HHT commonly presents with recurrent epistaxis, but may have more serious consequences if visceral vascular beds are involved. Approximately 30~50% of HHT cases also present with pulmonary arteriovenous malformation (PAVM). Spontaneous hemothorax is less common, and PAVM is one of the causes leading to hemothorax. Our case involved an 18-year-old female who had suddenly developed right chest pain. The reason for chest pain was due to right spontaneous hemothorax accompanied by PAVM in the right middle lobe. The patient was additionally diagnosed with HHT upon examination of her family history, specifically through her mother's symptom that included recurrent epistaxis and mucosal telangiectasia.

Factors associated with the decision to undergo risk-reducing salpingo-oophorectomy among women at high risk for hereditary breast and ovarian cancer: a systematic review

  • Park, Sun-young;Kim, Youlim;Kim, Sue
    • Women's Health Nursing
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    • v.26 no.4
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    • pp.285-299
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    • 2020
  • Purpose: This systematic review aims to identify factors associated with risk-reducing salpingo-oophorectomy (RRSO), including the uptake rate and decision timing, among women at high risk for hereditary breast and ovarian cancer (HBOC). Methods: We found 4,935 relevant studies using MEDLINE, Embase, CINAHL, and PsycINFO on July 6, 2020. Two authors screened the articles and extracted data. Twenty-four studies met the inclusion criteria. Quality assessment of articles was conducted using the Risk of Bias for Nonrandomized Studies tool. Results: Five types of factors were identified (demographic factors, clinical factors, family history of cancer, psychological factors, and objective cancer risk). The specific significant factors were older age, having child(ren), being a BRCA1/2 carrier, mastectomy history, perceived risk for ovarian cancer, and perceived advantages of RRSO, whereas objective cancer risk was not significant. The uptake rate of RRSO was 23.4% to 87.2% (mean, 45.2%) among high-risk women for HBOC. The mean time to decide whether to undergo RRSO after BRCA testing was 4 to 34 months. Conclusion: RRSO decisions are affected by demographic, clinical, and psychological factors, rather than objective cancer risk. Nonetheless, women seeking RRSO should be offered information about objective cancer risk. Even though decision-making for RRSO is a complex and multifaceted process, the psychosocial factors that may influence decisions have not been comprehensively examined, including family attitudes toward RRSO, cultural norms, social values, and health care providers' attitudes.

Analysis of the hereditary factor in craniofacial morphology and fingerprints in Class III malocclusion (III급 부정교합에서 두개안면 형태와 지문의 유전성향 분석)

  • Oh, Tae-Kyung;Baik, Hyoung-Seon
    • The korean journal of orthodontics
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    • v.34 no.4 s.105
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    • pp.279-287
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    • 2004
  • In growing patients with Class III malocclusion, the various patterns of maxillofacial growth are a key element that affects the success or failure of treatment. Therefore it is important to correctly predict maxillofacial growth before initiating treatment. The purpose of this study was to find out the correlation between the maxillofacial morphology of parents and their Class III children by analyzing lateral cephalograms and hereditary factors. Among Class III preadolescent children, 50 families were obtained. To find out the specific hereditary factors involved, fingerprints were obtained and genetic correlation with the maxillofacial morphology was analyzed. The following conclusions were made. 1. A significant correlation (P<0.05-0.00l) was found in many of the cephalometric measurements between the offspring and their parents. The correlation in the skeleton measurements was higher than in the denture measurements. The father-offspring correlation was higher than the mother-offspring correlation 2. A significant correlation (P<0.05-0.00l) was found in fingerprint units between the offspring and their parents. The mother-offspring correlation was higher than the father-offspring correlation. 3. Between the maxillofacial morphology and fingerprint units, there was significant genetic correlation (P<0.05-0.01). Based on the analysis of genetic correlation, higher correlation was found in the parent-son pairing than the parent-daughter pairing.

Physicians' Knowledge about Hereditary Breast Cancer in South Korea (국내 임상 의사의 유전성 유방암에 대한 지식도)

  • Choi, Kyung-Sook;Tae, Young-Sook;So, Hyang-Sook;Lee, Woo-Sook;Hur, Myung-Haeng;Kang, Mi-Young;Son, Song-Yi;Lee, Mi-Hi;Lee, Young-Lan;Choi, In-Soon;Jang, Eun-Sil;Kim, Seong-Jae;Jun, Myung-Hee
    • The Journal of Korean Academic Society of Nursing Education
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    • v.13 no.1
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    • pp.105-113
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    • 2007
  • Background: Cancer genetics have gained public attention dramatically. Everyday physicians and nurses use the knowledge of cancer genetics in their practices. Despite the importance of the knowledge of the health care providers on cancer genetics, there is a paucity of literature investigating the levels of knowledge about cancer genetics among health care providers. Purpose: This study aimed to describe the Korean physicians' current knowledge level about hereditary breast and ovarian cancer (HBOC). Method: This nation-wide survey used a 15-item questionnaire which is modified from the Breast Cancer Genetic Counseling Knowledge Questionnaire originally developed by Erblich et al.(2005). One hundred and forty-four physicians participated in this survey from October 1, 2006 to March 31, 2007. Result: Physicians' knowledge level about hereditary breast cancer was 11.94 (S.D=2.46). Physicians with short-term careers (less than one year), the position of Intern, or who were involved in breast or ovarian cancer care demonstrated the highest knowledge about HBOC. Conclusion: Genetic courses in medical education seemed to contribute to the high level of physicians' genetic knowledge. Also, nursing discipline needs to incorporate genetics or genetic counseling courses into the formal educational curriculum in order to deliver up to date cancer care services which are sensitive to ever-changing cancer genetic information.

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Position Introduction Research with Hereditary body of Formation Waveguide (직선형 도파관의 유전체와의 상호작용 연구)

  • Kim, Won-Sop
    • Proceedings of the KIEE Conference
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    • 2009.07a
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    • pp.1477_1478
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    • 2009
  • 마이크로파는 통신과 플라즈마 가열등 많은 분야에서 이용되어져 왔다. 본 연구에서는 대 전력 마이크로파를 발생시키는 발생기의 하나로서 체렌코프 상호작용에 대하여 후진파발진기를 연구하였으며 현재 고출력화, 고주파수를 목적으로 하여 연구하였다.

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Notes on correct modules

  • Lee, Dong-Soo;Park, Chul-Hwan
    • Communications of the Korean Mathematical Society
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    • v.11 no.2
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    • pp.295-301
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    • 1996
  • In this paper we will define correct module and strongly correct module. We can have some basic results about those modules. And we will show that M is a graded correct R-module if and only if $M_e$ is a correct $R_e$-module.

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THE GENERALIZED NORMAL STATE SPACE AND UNITAL NORMAL COMPLETELY POSITIVE MAP

  • Sa Ge Lee
    • Journal of the Korean Mathematical Society
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    • v.35 no.1
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    • pp.237-257
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    • 1998
  • By introducing the notion of a generalized normal state space, we give a necessary and sufficient condition for that there exists a unital normal completely map from a von Neumann algebra into another, in terms of their generalized normal state spaces.

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