• Asian Oncology Nursing
• /
• v.11 no.3
• /
• pp.200-209
• /
• 2011

Purpose: The purpose of this micro-ethnography is to examine whether science and societal changes impact family communication patterns among a convenience sample of 16 Korean women. Methods: The authors observed family communication in the context of a new breast cancer genetic screening and diagnostic testing program to detect BRCA gene mutations in Korean women at highest risk. Results: Analysis of in-depth interviews and field notes taken during participant observation illustrated that communication patterns in families vary according to a woman's position in the family. If a grandmother tests positive for a gene mutation, her daughters make decisions on her behalf; they open and maintain the communication channel among family members. If a housewife is diagnosed with cancer and a genetic mutation, she immediately consults her husband and her sisters. The husband creates an open communication channel between his wife, his parents and his siblings. As a result, a woman's cancer is a concern for the whole family not merely a woman's secret or crisis. Conclusion: Cultural differences are important to consider when designing new genetic service programs in different countries.

• Journal of Genetic Medicine
• /
• v.7 no.1
• /
• pp.16-23
• /
• 2010

Many endocrine disorders have a genetic component. The genetic component is the major etiologic factor in monogenic disorders, while multiple genes in conjunction with environmental and lifestyle factors contribute to the pathogenesis in complex disorders. The development of the molecular basis of inherited endocrine diseases has undergone a dramatic evolution during the last two decades. The application of molecular technology allowed us to increase our understanding of endocrine diseases, and to impact on the practice of pediatric endocrinology related to diagnosis and genetic counseling. Identification of the mutation in the particular disease by genetic testing leads to precise diagnosis in the equivocal cases and prenatal diagnosis. However, clinicians should be cautious about determining therapeutic decisions solely on the basis of molecular studies, especially in the area of prenatal diagnosis and termination of pregnancy. This review describes an introduction to molecular basis of various inherited endocrine diseases and diagnosis by genetic testing.

• International Journal of Contents
• /
• v.15 no.1
• /
• pp.52-57
• /
• 2019

The purpose of this research is to evaluate teachers' perception of Korean's achievement standard-based testing system (ASTS) and its process of implementation, and to propose a method of evaluating students' academic aptitude based on university entrance examinations. The core of the 2015 Revised National Curriculum is asserted by changes in classroom instruction, specifically encouraging students' participation in class based on a new method to evaluate student achievement. A total of 124 teachers in charge of student career counseling in middle and high schools in the Jeonbuk province participated in the study. The schools implementing the new method of ASTS were using 61.6% for unit school cut-off point, as opposed to the existing fixed cut-off point of 38.4%. The teachers understanding of the achievement evaluation method was rated 3.54 on the 5-point Likert scale, implying that they had a relatively good understanding of the method. Some of the challenges associated with reflecting the scores from the new student ASTS include difficulty of comparing scores across schools; grade inflation; advantages and disadvantages associated with the type of high school; and the increased importance of university entrance examination. In the ASTS, the fairness during the evaluation of the high school grades and the consequently the reliability of the evaluation prove worrying. As an ultimate result, selecting students based on university admissions data became untrustworthy. There should be further discussions on how students' achievement obtained from the new ASTS should be applied during the university admission process and how students' academic aptitude can be assessed in order to set a direction for secondary school education.

• Journal of Genetic Medicine
• /
• v.21 no.1
• /
• pp.1-5
• /
• 2024

Despite advances in the diagnosis and management of rare diseases (RDs), there remains a tendency to overlook adult RD patients. In addition to the considerable number of adult-onset RDs, advances in the diagnosis and management of pediatric RDs have led to an increase in the survival of these patients into adulthood. Adult RDs exhibit distinct features from pediatric counterparts, necessitating careful consideration during medical assessments. Given the extended life expectancy of adult RD patients, precise diagnosis and management strategies can significantly enhance patient outcomes. This review aims to provide an in-depth exploration of the characteristics unique to adult RDs. Special emphasis will be placed on the importance of cascade screening and prenatal genetic testing in the context of adult RDs, highlighting the need for a comprehensive understanding of these aspects in clinical practice.

• Childhood Kidney Diseases
• /
• v.14 no.2
• /
• pp.120-131
• /
• 2010

Renal tubular acidosis (RTA) is a metabolic acidosis due to impaired excretion of hydrogen ion, or reabsorption of bicarbonate, or both by the kidney. These renal tubular abnormalities can occur as an inherited disease or can result from other disorders or toxins that affect the renal tubules. Disorders of bicarbonate reclamation by the proximal tubule are classified as proximal RTA, whereas disorders resulting from a primary defect in distal tubular net hydrogen secretion or from a reduced buffer trapping in the tubular lumen are called distal RTA. Hyperkalemic RTA may occur as a result of aldosterone deficiency or tubular insensitivity to its effects. The clinical classification of renal tubular acidosis has been correlated with our current physiological model of how the nephron excretes acid, and this has facilitated genetic studies that have identified mutations in several genes encoding acid and base ion transporters. Growth retardation is a consistent feature of RTA in infants. Identification and correction of acidosis are important in preventing symptoms and guide approved genetic counseling and testing.

• Genomics & Informatics
• /
• v.15 no.3
• /
• pp.82-86
• /
• 2017

Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCAs). CMA analysis was performed in 42 Korean patients who had been diagnosed with unexplained DD, ID, ASDs, and MCAs. Clinically relevant CNVs were discovered in 28 patients. Variants of unknown significance were detected in 13 patients. The diagnostic yield was high (66.7%). CMA is a superior diagnostic tool compared with conventional karyotyping and fluorescent in situ hybridization.

• Journal of Genetic Medicine
• /
• v.9 no.1
• /
• pp.25-30
• /
• 2012

Among the treatment options for BRCA mutation carriers, risk reducing surgery is the most effective. However, this procedure has been rarely performed in Korea. Interestingly, our case showed double heterozygosity for BRCA1 and BRCA2 mutations. The patient was diagnosed with left renal cancer and left breast cancer at 45-years-of-age, 4 years before risk reducing surgery. The patient received left radical nephrectomy and left partial mastectomy with axillary lymph node dissection. After pretest counseling, the patient underwent genetic testing that identified BRCA1 and BRCA2 mutations. After post-test counseling, the patient decided on intensive surveillance. At 49-years-of-age, the patient was newly diagnosed with contralateral breast cancer. Treatment options were discussed once again. We performed bilateral total mastectomy with immediate reconstruction and prophylactic bilateral salpingo-oophorectomy after multidisciplinary discussion. The patient has been satisfied with the results of surgery. We think this procedure is a recommendable treatment option for BRCA mutation carriers.

• Journal of Families and Better Life
• /
• v.24 no.5 s.83
• /
• pp.113-128
• /
• 2006

This study was to verify the effectiveness of the Life Review-Narrative group therapy program on decreasing depression and death anxiety in the elderly. The program was organized according to a course of life from childhood to old age. The objectives were for the elderly to enhance self-worth, to become aware of their solitary existence, to accept aging and death, to accept the life: both past and present, and to make the most of experiences in overcoming difficulties. For the most part, the program used reminiscence and re-authoring of the narrative therapy as counseling techniques. Thirty-two elderly people(16 in the experimental group, 16 in the control group) aged 60 years and over were randomly selected from patients at the Daegu Metropolitan City General Welfare Center. Two groups were identified as equivalents for the study in the pre-test. The program for the experimental group was implemented twice a week for 90 minutes per session over a 6-week period(Sep. 8-Oct.14. 2005). The pre-test(Sep. 8 2005), the post-test(Oct. 14. 2005) and the follow-up test(Nov. 14. 2005) were implemented in order to verify the effectiveness of the programs. The instruments used in the study were the Geriatric Depression Scale Short Form(Korean Version) and the Death Anxiety Scale. The data were analyzed using t-testing and One-Factor Repeated Measures ANOVA. This study supplemented other qualitative research methods in order to verify the variation in the depression and death anxiety in the elderly. The findings of the study were as follows: Significant decrease in the depression and death anxiety were reported in the experimental group. The control group however did not show any significant changes in the depression and death anxiety rates. The result of the post hoc multiple comparisons showed that the effects of the life review-narrative group therapy program has lasted effects on decreasing of the death anxiety. Nevertheless, the effects of the life review-narrative group therapy program on decreasing depression are not lasting. The study has limitations so further research is suggested.

• The Journal of Korean Association of Computer Education
• /
• v.12 no.5
• /
• pp.23-33
• /
• 2009

In order to help them to use the Internet properly, a study on development and application of Internet-addiction healing program using video communications was conducted and proved fruitful. The eight-session program was performed on students categorized into the high risk group for about three weeks(three times a week). After the completion of the program, the students took a self-test and the changes of the scores were analyzed. Furthermore, qualitative analysis was performed on counseling process to compensate for the reliability reduction posed by limited sampling. This study can be summarized as follows. First, the symptoms of teen Internet addiction were alleviated. The effectiveness of the application of the program was verified by the fact that all the subjects were categorized into the general user group from the high risk group. Second, in the six sub-regions of the Internet-addiction self-testing, the scores changed positively. Third, the students were actively engaged in the counseling process due to the fact that the Internet addiction healing program by means of video communications had aroused their interests.

• Asian Oncology Nursing
• /
• v.10 no.2
• /
• pp.240-246
• /
• 2010

Purpose: Advancing genetic knowledge for oncology nurses is especially important in Korea because physicians have launched to incorporate genetic risk assessment and genetic testing into their practice. The purpose of this paper was to identify the effect of the first academic cancer genetic risk assessment and counseling course for Korean nurses. Methods: Thirty-five nurses were recruited and educated from June 8 to 14, 2006 in Seoul, Korea. Two measurement tools were used: 'knowledge about the hereditary breast and ovarian cancer (HBOC)' and 'knowledge about the cancer genetics'. Results: Students' score of knowledge about HBOC at pre-education was $12.22{\pm}2.23$ and after education, it increased to $13.62{\pm}1.76$. This change was statistically significant (t=-3.253, p=.003). The score of knowledge about cancer genetics at pre-education was $11.31{\pm}3.44$, and after education it has increased to $16.17{\pm}1.94$. It also was statistically significant (t=-6.92, p=.000). Conclusion: This program was effective to be a starting point for establishing genetic educational planning for the oncology nurses in Korea. This academically-based course is recognized as valuable by oncology nurses. With this new knowledge, nurses can begin to expand their role in delivering comprehensive cancer care services in Korea.