• Title/Summary/Keyword: hereditary factors

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A Study on the Motivating Factors for Nuclear Development in the Kim Jong-un Era (2011-2017)

  • Deog-Sung Jung;Yong-Hyun Kim
    • International Journal of Advanced Culture Technology
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    • v.12 no.2
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    • pp.281-285
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    • 2024
  • Within five years of Kim Jong-un's rise to power, North Korea conducted four nuclear tests and launched the Hwasong-15, an intercontinental ballistic missile (ICBM), in 2017, declaring the completion of its nuclear forces. During the period when Kim Jong-un completed nuclear forces to maintain the regime, foreign policy factors of the United States, China, Russia, and South Korea drove North Korea's accelerated nuclear development. The main motivating factors were the hostile policies and external threats as security factors. The completion of nuclear forces is also the result of the interplay of domestic political factors, normative factors, and hereditary factors. North Korea has been developing nuclear weapons and missiles for the survival of its regime. To achieve lasting peace on the Korean Peninsula, a new modus vivendi must be sought. It is necessary to set the ultimate goal of North Korea's complete denuclearization and engage in strategic thinking for a realistic and effective phased approach.

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.

A case of hereditary pancreatitis with a N29I mutation in the cationic trypsinogen gene (Cationic Trypsinogen N29I 유전자 변이에 의한 유전 췌장염 1례)

  • Shin, Jee Youn;Oh, Dae Sung;Rheu, Jeong Min;Shim, Jeong Ok;Park, Ji Sook;Ko, Jae Sung;Seo, Jeong Kee
    • Clinical and Experimental Pediatrics
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    • v.49 no.10
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    • pp.1111-1115
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    • 2006
  • Hereditary pancreatitis is an autosomal dominant disease characterized by recurrent episodes of pancreatitis, often beginning in childhood, with a positive family history involving at least two other affected family members with no known other precipitating factors. Most forms of hereditary pancreatitis are caused by one of two common mutations, i.e., R122H in exon 3 and N29I in exon 2 of the cationic trypsinogen (CT) (PRSS1) gene, located on chromosome 7. The authors describe the case of a 15-year-old boy who had suffered from recurrent attacks of pancreatitis since age three. His mother and grandmother had chronic pancreatitis and diabetes mellitus. Mutation analysis was performed on the family due to the suspicion of hereditary pancreatitis. The CT gene was analyzed in DNA samples extracted from the peripheral blood of three family members, the mother, the proband, and the proband's sister. Two members of the family, the mother and the proband, were found to have a N29I mutation in the CT gene. The authors document the first family with hereditary pancreatitis associated with the N29I mutation in Korea.

Knowledge and Anxiety Related to Hereditary Ovarian Cancer in Serous Ovarian Cancer Patients (장액성 난소암 환자의 유전성 난소암에 대한 지식 및 불안정도)

  • Lee, Sang Hee;Lee, Hyangkyu;Lim, Myong Cheol;Kim, Sue
    • Women's Health Nursing
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    • v.25 no.4
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    • pp.365-378
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    • 2019
  • Purpose: The awareness of hereditary breast and ovarian cancer (HBOC) and BRCA testing is increasing in Korea. Compared to the sizable research on HBOC knowledge among breast cancer women, studies in the ovarian cancer population are limited. This paper aimed to investigate the level of knowledge of hereditary ovarian cancer and anxiety in women diagnosed with serous ovarian cancer in Korea and determine differences in the knowledge and anxiety according to whether genetic testing was undertaken and whether BRCA1 or BRCA2 mutations were present. Methods: Using a descriptive research design, a cross-sectional survey was conducted on 100 women diagnosed with serous ovarian cancer at N hospital in Gyeonggi-do, Korea, from July to November 2018. The collected data were analyzed by descriptive statistics, independent t-tests, one-way analysis of variance, and Pearson's correlation coefficient using the SPSS 21.0 program. Results: The hereditary ovarian cancer-related knowledge score was mid-level (mean score 8.90±3.29 out of a total of 17), as was the state anxiety level was mid-level (mean score 47.96±3.26 out of possible score range of 20-80). Genetic knowledge of hereditary ovarian cancer was associated with age, education, occupation, genetic counseling, and BRCA mutations. There were no statistically significant factors related to anxiety and there were no statistically significant correlations between knowledge level and anxiety. Conclusion: More comprehensive education on gene-related cancer is needed for ovarian cancer patients, especially for items with low knowledge scores. A genetic counseling protocol should be developed to allow more patients to alleviate their anxiety through genetic counseling.

Korean Nurses' Knowledge about Hereditary Colorectal Cancer (국내 간호사의 유전성 대장암 지식정도)

  • Choi, Kyung-Sook;Kim, Hack-Sun;Park, Jung-Ae;Lee, Joo-Hyun
    • Asian Oncology Nursing
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    • v.11 no.2
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    • pp.147-154
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    • 2011
  • Purpose: This study was performed to evaluate Korean nurses' knowledge about hereditary colorectal cancer (HCRC). Methods: A modified 15-item HCRC knowledge questionnaire was developed based on previous research. One hundred and forty-eight nurses have completed the questionnaire from February to April, 2011. Results: The average score of nurses' knowledge was $11.25{\pm}1.54$. Ninety-seven percent of nurses knew about colonoscopy check up schedule and family pedigree. However, only 20% of nurses knew about the rate of passing on mutation genes to offspring and risk of developing CRC among carriers. Only 13.5% of nurses had previous genetic education experiences. Working in oncology units, taking care of CRC patients, and participating in genetic education were not associated with nurses' HCRC knowledge. Conclusion: Various factors influence nurses' knowledge about HCRC. Repeated study with larger national sample of nurses is recommended to identify the factors affecting nurses' knowledge level in order to develop efficient genetic education programs for HCRC patients and their families by nurses.

Hemolytic anemia in pediatrics (소아 용혈빈혈(Hemolytic anemia in pediatrics))

  • Hah, Jeong Ok
    • Clinical and Experimental Pediatrics
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    • v.50 no.6
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    • pp.511-518
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    • 2007
  • To understand the hemolytic anemia (HA) in children, the diagnostic approach and management of hereditary and acquired HA are described. The hereditary hemolytic anemia (HHA) can be classified according to the pathogenesis into three types : RBC membrane defects, hemoglobinopathies, and RBC enzymopathies. Clinical characteristics, laboratory findings and molecular defects of these three types are presented briefly. In Korea, HHA due to the RBC membrane defect, hereditary spherocytosis had been reported often but HHA due to hemoglobinopathies and RBC enzymopathies had been thought to be relatively rare. With recent development in the molecular diagnosis, ${\beta}$ thalassemia, mostly heterozygote, G6PD and pyruvate kinase deficiency have been reported with gene characterization. If the patients with microcytic hypochromic anemia show unproportionally low MCV or MCH or refractory to the iron therapy, hemoglobin electrophoresis and gene analysis for thalassemia or other unstable hemoglobinopathies need to be done accordingly. The global movement of the population especially from the region prevalent of hemoglobinopathies or enzymopathies to Korea warrants considering broad spectrum of etiology for the diagnosis of HHA. Aquired HA resulting from extracellular factors such as autoimmune HA from warm antibody, cold agglutinin and paroxysmal cold hemoglobinuria as well as nonimmune HA are described briefly.

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

  • Choi, Kyung-Sook;Jun, Myung-Hee;Anderson, Gwen
    • Asian Oncology Nursing
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    • v.12 no.2
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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.

Hereditary Breast Cancer in Korea

  • Kim, Sung-Won
    • Journal of Genetic Medicine
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    • v.9 no.1
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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.

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.

Hereditary Pancreatitis - Report of a Kindred - (유전성 췌장염 - 1가계보고 -)

  • Kim, Hyoung-Ran;Chung, Jae-Hee;Song, Young-Tack;Yoon, Won-Jae;Ryu, Ji-Kon;Kim, Yong-Tae
    • Advances in pediatric surgery
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    • v.12 no.1
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    • pp.24-31
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    • 2006
  • Hereditary pancreatitis (HP) appears as an autosomal dominant trait. If the patient has (1) more than 2 affected relatives in different generations and (2) no known etiological factors such as alcohol or gallstones, or has R122H or N29I mutation in the cationic trypsinogen (CT) gene, the diagnosis of HP can be applied. Risk of pancreatic cancer is estimated to be 53-fold higher than in a general population after the age of 50 years. We report a kindredof HP, involving three of its family together; two siblings (14 years old, 13 years old) and cousin (26 years old). The patient had complicating chronic pancreatitis and pancreatic stone, and was treated with amodified Puestow-Gillesby procedure. Her sisters showed chronic pancreatitis. Her cousin underwent a drainage procedure of the pancreatic duct for chronic pancreatitis during the high school period. All the three members showed the R122H mutation of the CT gene.

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