• Title/Summary/Keyword: Genetic Nursing

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Current Pharmacogenetic Approach for Oxaliplatin-induced Peripheral Neuropathy among Patients with Colorectal Cancer: A Systematic Review (대장암 환자의 옥살리플라틴(oxaliplatin) 유도 말초신경병증에 대한 약물유전학적 접근: 체계적 문헌고찰)

  • Ahn, Soojung;Choi, Soyoung;Jung, Hye Jeong;Chu, Sang Hui
    • Journal of Korean Biological Nursing Science
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    • v.20 no.2
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    • pp.55-66
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    • 2018
  • Purpose: Peripheral neuropathy is common among colorectal cancer (CRC) patients who undergo oxaliplatin-based (OXL) chemotherapy. A pharmacogenetic approach can be used to identify patients at high-risk of developing severe neuropathy. This type of approach can also help clinicians determine the best treatment option and prevent severe neurotoxicity. The purpose of this study is to investigate the evidence of pharmacogenetic markers for OXL-induced peripheral neuropathy (OXIPN) in patients with CRC. Methods: A systematic literature search was conducted using the following databases up to December 2017: Pubmed, EMBASE, and CINAHL. We reviewed the genetic risk factors for OXIPN in observational studies and randomized controlled clinical trials (RCTs). All processes were performed independently by two reviewers. Results: Sixteen studies published in English between 2006 and 2017 were included in this review. A genome-wide association approach was used in one study and various candidate genes were tested, based on their functions (e.g., DNA damage or repair, ion channels, anti-oxidants, and nerve growth etc.). The genes associated with incidence or severity of OXIPN were ABCG2, GSTP1, XRCC1, TAC1, and ERCC1. Conclusion: This study highlighted the need and the importance of conducting pharmacogenetic studies to generate evidence of personalized OXIPN symptoms management. Additional studies are warranted to accelerate the tailored interventions used for OXIPN in patients with CRC (NRF-2014R1A1A3054386).

Factors Related to Vision Disturbances in the Elementary School-Age Children (학령기 아동의 시력저하 실태 및 관련 요인)

  • Shin Hee-Sun;Oh Jin-Joo
    • Child Health Nursing Research
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    • v.8 no.2
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    • pp.164-173
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    • 2002
  • The vision disturbances of school-age children has been recognized as and important school health problem. The purpose of this study is to describe the current status of the visual health and to explore the related factors for the decrease in visual acuity in the elementary school age children. The study subjects were 697 children (Boys: 338, Girls: 359) of 4th to 6th grade in two school in urban area. The visual acuity data of the school health examination in 1999 and 2000 were utilized for analysis. The questionnaire for children and parents was used for survey. The findings were as follows. 1. The prevalance rate of the children with the visual acuity less than 0.7 on the left eye were 26.84% ( Grade 4), 31.30% (Grade 5), and 38.39% (Grade 6). The rate on the right eye were 28.31% (Grade4), 30.37% (Grade 5), and 37.92% (Grade 6). There was a significant difference in the rate of the visual acuity less than 0.7 according to grade (p<.01). 2.The rate of visual acuity decrease was 40.12%. 3. The factors related to the decrease in the visual acuity were grade, sex, genetic factor, posture, and the awareness of the visual acuity. There was more decrease in the visual acuity when the children were in higher grade (O.R= 1.06), girls (O.R=2.29). Children having parents with better vision (Father: O.R=1.26; Mother O.R= 1.25) showed better vision. On the other hand, when the children have siblings with glasses, there was more decrease in the visual acuity (O.R=2.31). Students with good posture during study (sitting on the chair) and watching TV to the lower direction showed less decrease in the visual acuity. Also, when the students know their visual acuity, the rate of decrease were lower. The variables which odds ratio were statistically significant were sex (p<.01), siblings with glasses (p <.01), and awareness of visual acuity (p<.01).

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Genetic Variation in a DNA Double Strand Break Repair Gene in Saudi Population: A Comparative Study with Worldwide Ethnic Groups

  • Areeshi, Mohammed Yahya
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.12
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    • pp.7091-7094
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    • 2013
  • DNA repair capacity is crucial in maintaining cellular functions and homeostasis. However, it can be altered based on DNA sequence variations in DNA repair genes and this may lead to the development of many diseases including malignancies. Identification of genetic polymorphisms responsible for reduced DNA repair capacity is necessary for better prevention. Homologous recombination (HR), a major double strand break repair pathway, plays a critical role in maintaining the genome stability. The present study was performed to determine the frequency of the HR gene XRCC3 Exon 7 (C18067T, rs861539) polymorphisms in Saudi Arabian population in comparison with epidemiological studies by "MEDLINE" search to equate with global populations. The variant allelic (T) frequency of XRCC3 (C>T) was found to be 39%. Our results suggest that frequency of XRCC3 (C>T) DNA repair gene exhibits distinctive patterns compared with the Saudi Arabian population and this might be attributed to ethnic variation. The present findings may help in high-risk screening of humans exposed to environmental carcinogens and cancer predisposition in different ethnic groups.

Equivocal Association of RAD51 Polymorphisms with Risk of Esophageal Squamous Cell Carcinoma in a Chinese Population

  • Zhang, Shu-Xiang;Yang, Shan;Xu, Chang-Qing;Hou, Rui-Ping;Zhang, Chuan-Zhen;Xu, Cui-Ping
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.2
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    • pp.763-767
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    • 2014
  • Aim: To study the contribution of genetic variation in RAD51 to risk of esophageal squamous cell carcinoma (ESCC). Methods: Three single nucleotide polymorphisms (SNPs) in RAD51 (rs1801320, rs4144242 and rs4417527) were genotyped in 316 ESCC patients and 316 healthy controls in Anyang area of China using PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism). Demographic variables between cases and controls were statistically compared by T test and Chi-square test. Hardy-Weinberg equilibrium was evaluated by the Chi-square test. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to measure any association with ESCC. Haplotype frequencies were estimated by Phase 2.1. Result: The genotype frequencies of rs1801320, rs4144242 and rs4417527 in patients with ESCC demonstrated no significant differences from those in control group (P>0.05). When the haplotypes of these three SNPs were constructed and their relationships with ESCC risk investigated, however, CGG was observed to increase the risk (P=0.020, OR=2.289). Conclusions: There was no association between the three SNPs of RAD51 and ESCC susceptibility in our Chinese population. However, the CGG haplotype might be a risk factor.

Importance of family segregation in the American College of Medical Genetics and Genomics and Association of Molecular Pathology guidelines: Case of a Korean family with autosomal dominant polycystic disease

  • Kwon, Won Kyung;Kim, Suhee;Jang, Ja-Hyun;Kim, Jong-Won
    • Journal of Genetic Medicine
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    • v.17 no.1
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    • pp.51-54
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    • 2020
  • Since the American College of Medical Genetics and Genomics and Association of Molecular Pathology published their guidelines in 2015, most interpretations of genetic tests have followed them. However, all variants have only limited evidence along 28 interpretation standards, especially de novo variants. When de novo variants, which are classified as variants of uncertain significance (VUS) due to lack of evidence, are detected, segregation in the affected family could provide an important key to clarifying the variants. Autosomal dominant polycystic kidney disease is the most common inherited kidney disorder with pathogenic variants in the PKD1 or PKD2 genes. We detected a novel in-frame deletion variant in the PKD1 gene, c.7575_7577del (p.(Cys2526del)), which was interpreted as a VUS. We analyzed this variant in a Korean family to decide for segregation. Here, we report the variant as a likely pathogenic variant based on the evidence of segregation in three affected relatives and two unaffected members.

The Lived Experience of Mothers about Rearing of School Children With Cerebral palsy (뇌성마비 취학아동 어머니의 양육체험)

  • Baek Kyoung-Seon
    • Child Health Nursing Research
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    • v.7 no.4
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    • pp.434-450
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    • 2001
  • This study is designed to understand the meaning and nature of raising children with cerebral palsy. It researches the experience of mothers of schoolchildren with cerebral palsy by the research method of hermeneutic phenomenology. The study was conducted from November 10, 1999 to December 20, 2000. When children with cerebral palsy usually show symptoms in the early stage of cerebral palsy, mothers do not take children to a doctor for diagnosis. And, most of mothers have a difficult time to accept the reality; they usually respond to the initial diagnosis with shock, reproach, and deny. When mothers start recognizing the reality, they consider that their children have cerebral palsy due to the their mismanagement during pregnancy, delivery, nursing, and initial treatment. They shelter their children from view and feel guilty that they cannot afford to try folk remedies for their children. As time passes, mothers face conflicts between families in diverse ways. Families put the blame on genetic effects. Mothers-in-law give their daughters-in-law a hard time, husbands shift the responsibility of raising children onto their wives, and trouble arises between families-in-law and mothers native families. When children grow up, it is physically difficult for mothers to take care their children. In addition, they suffer from all the troubles in family due to childrens handicap. Mothers try the diverse methods of bringing up children. However, they start getting tired of raising children as they experience failures and financial difficulties. Mothers feel collapsed recalling the ways of raising children. They feel anxiety, miserable, lonely, and worrying when they think how children would attend school, make friends, and live in the future. In this stage, mothers do their best to raise their children with hope. They tend to compare their children with others without handicap and spend money and time in attempting all the treatments. When mothers and children join the society at school, they find that the society does not understand disabled people, teachers show inconsiderate attitude, friends avoid them, and children hardly follow classes. Such experiences make mothers feel angry and frustrated. However, when children adapt to school, mothers see the possibility that children could accomplish schoolwork. They appreciate teachers help and others consideration. Mothers place appropriate expectations on their children and help them to prepare for the future. I would make following suggestions based on the results. 1. As a primary basic course of rehabilitation nursing intervention, solution-centered nursing intervention system should be developed. The intervention needs to be based on the understanding of mothers, who raise children with cerebral palsy, through in-depth interview. 2. Advance researches on the development of individual nursing intervention should be conducted. Individual nursing intervention needs to prevent and release actual pain focusing on mothers raising children with cerebral palsy. 3. Integrated curriculum that help children with cerebral palsy lead a normal school life with ordinary children should be developed. 4. Basic research on using of facilities and effective application of service volunteer to help children with cerebral palsy in school needs to be conducted.

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The Attitudes of Community Leaders Toward Mental Illness (지역사회 지도자의 정신질환에 대한 태도- 일 지역사회 정신건강관리 모형개발을 위한 기초조사 -)

  • 노춘희
    • Journal of Korean Academy of Nursing
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    • v.28 no.4
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    • pp.881-892
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    • 1998
  • This study attempts to identify attitudes of community leaders toward mental illness in order to obtain useful information concerning the planning of community mental health services. The community sample consists of 50 community leaders including, civil servants, doctors, herb doctors, school nurses, counselors, village leaders, pharmacists, and pastors. Individuals were asked to give demographic data, their personal attitudes toward mental illness' etiology & prognosis, and toward neighbors who are psychiatric patients. The interview with open questions was used to collect data. According to the study community leaders 82% believed that mental illness could be treated, 66% believed that mental illness was caused by genetic factors and environmental stress, and 76% had negative impressions about mentally ill people such as fear, seclusion, asylum, also crime. Only 28% of mentally ill people were accepted as neighbors in community. 52% of community leaders rejected opening of mental hospital, and thought that the Chunchon community needed facilities such as group homes, or day care centers (30%), however, 34% of the leaders they didn't recognize community mental health. These findings suggest that mental health professionals need to pay special attention to change the attitude of Chunchon community leaders and mental health institutions need to a develop mental health education program for community leaders.

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Analysis of oral pathogenic microorganisms in Alzheimer's dementia patients using nursing facilities (요양보호시설 이용중인 알츠하이머 치매환자의 구강 병원성 미생물 분석)

  • Jung, Seo-Yun;Jeong, Mi-Ae;Kim, Chun-Sung;Kim, Su-Gwan
    • Journal of Korean society of Dental Hygiene
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    • v.22 no.5
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    • pp.411-416
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    • 2022
  • Objectives: This study aimed to identify pathogenic microorganisms in the oral cavity of Alzheimer's dementia patients and recognize the necessity and importance of oral prevention management. Methods: The participants comprised 40 dementia patients aged 60 years or older and general patients who were using nursing care facilities in Gwangju from February to July 2017. Samples were collected with Eazyperio products for oral pathogenic microbial testing. Eighteen types of bacteria could be detected by analyzing Multiplex-Quantity Real Time polymerase chain reaction at a genetic testing agency. Results: The study comprised more women than men. Most participants were in their 80s. Statistically significant differences were observed in some oral pathogenic microorganisms. Conclusions: Pathogenic microorganisms could more easily proliferate in the oral cavities of Alzheimer's dementia patients than they could among general elderly participants due to a lack of awareness of oral hygiene and prevention management. To improve this, it is considered necessary to deploy oral health care professionals.

The Lived Experience of Mothers of Children with Muscular Dystrophy (근디스트로피 자녀를 가진 어머니의 경험)

  • Oh Sang-Eun
    • Child Health Nursing Research
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    • v.7 no.4
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    • pp.421-433
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    • 2001
  • The purpose of this phenomenological study was to understand the lived experience of mothers of children with muscular dystrophy. The participants were 11 mothers recruited by snowball sampling, who agreed with the objectives of the research and could verbally communicate with the researcher and who lived with their sons who had muscular dystrophy. Data collection was done through in-depth interviews with participants in their own homes. Each interview took 50 to 120 minutes. All of the interviews were audiotaped and then transcribed. Data were analyzed using Colaizzi's (1978) method of phenomenology. From the transcripts 109 significant sentences and phrases were selected and 13 clusters of themes were categorized from 67 significant statements. These results were integrated into the essential structure of the lived experience of mothers of children with muscular dystrophy. 1. Anxious and relying on chance due to indefinite diagnosis. 2. Only able to cry with shock because of son's fatal disease. 3. Seeing the future as dismal and feeling resentment that this disease in transmitted through the mother. 4. Feeling caught between a husband who is distancing himself from his family and the family which is disintegrating. 5. Feeling like a sinner for transmission of genetic disease(Feeling guilt for conceiving a son with a genetically transmitted fatal disease). 6. Empathizing with other suffers of muscular dystropy and their parents in their grief and helping to dissipate their heavy feelings. 7. Deciding to sacrifice self as a way of taking responsibility for giving birth to a handi-capped son. 8. Losing hope (feeling despair) as son's condition deteriorates in spite of all attempts to help him. 9. Wishing to die with son who becomes progressively immobile. 10. Accumulating Han*(한, 恨), because of rising Hwa(화, anger), and becoming sick both mentally and physically. 11. Seeing events as destiny and finding self-control through faith. 12. Finally, giving up sacrificing self for son and becoming concerned(involved) with other children in the family. 13. Feeling fear at son's impending death. This is the first research on the experience of Korean mothers of children with muscular dystrophy. In applying the phenomenology research method, this study not only helps health professionals understand the experience of these mothers in the Korean patriarchal social system, but the researcher, as a nurse, can share their agony and grief through identification of their inner world through in-depth personal interviews. The results obtained in this study will not only help in the development of family nursing practice for families with genetically transmitted diseases but also prepare basic data for family nursing practice in the Korean sociocultural context.

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Patterns of the peripheral nerve injury on expression of brain-derived neurotrophic factor in dorsal root ganglia and spinal cord in rats (말초신경손상이 척수후근신경절 및 척수에서 Brain-derived neurotrophic factor 발현에 미치는 양상)

  • Ha, Sun-Ok;Hong, Hae-Sook
    • Journal of Korean Biological Nursing Science
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    • v.4 no.1
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    • pp.101-112
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    • 2002
  • Peripheral nerve injury results in plastic changes in the dorsal ganglia (DRG) and spinal cord, and is often complicated with neuropathic pain. The mechanisms underlying these changes are not known, but these changes seem to be most likely related to the neurotrophic factors. This study investigated the effects of mechanical peripheral nerve injury on expression of brain-derived neurotrophic factor(BDNF) in the DRG and spinal cord in rats. 1) Bennett model and Chung model groups showed significantly increased percentage of small, medium and large BDNF-immunoreactive neurons in the ipsilateral $L_4$ DRG compared with those in the contralateral side at 1 and 2 weeks of the injury. 2) In the ipsilateral $L_5$ DRG of the Chung model, percentage of medium and large BDNF-immunoreactive neurons increased significantly at 1 week, whereas that of large BDNF-immunoreactive neurons decreased at 2 week when compared with those in the contralateral side. The intensity of immunoreactivity of each neuron was lower in the ipsilateral than in the contralateral DRG. 3) In the spinal cord, the Bennett and Chung model groups showed a markedly increased BDNF-immunoreactivity in axonal fibers of both superficial and deeper laminae. The present study demonstrates that peripheral nerve injury in neuropathic models altered the BDNF expression in the DRG and spinal cord. This may suggest important roles of BDNF in sensory abnormalities after nerve injury and in protecting the large-sized neurons in the damaged DRG.

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