1.Idiopathic cardiomyopathies in Korean Children: A nationwide study.
Eun Jung CHEUN ; I Suck GANG ; Eun Jung BAE ; Jong Goon LEE ; Hyang Suck YOON ; Yong Wook KIM ; Hee Joo PARK ; Jae Gon KOH ; Chung Il NOH ; Heung Jae LEE
Korean Circulation Journal 2000;30(5):635-645
BACKGROUND: Although idiopathic cardiomyopathies(i-CMP) are very important in all age groups, the epidemiology of i-CMP in children has not been well defined. A retrospective study in Korean children was performed in 1998 to obtain basic data on i-CMP. MATERIAL AND METHOD: The medical records of all patients aged birth to 15 years from the hospitals where pediatric cardiologists worked were reviewed to obtain information on i-CMP. Pediatric cardiologists from a total of 22 hospitals were participated in reviewing the medical records of their patients and filling up the protocol. The data were pooled to the study committee and reviewed. RESULTS: Of the 278 cases with i-CMP, there were dilated cardiomyopathy (d-CMP) in 182 (65.4%): hypertrophic cardiomyopathy (h-CMP) in 74 (26.6%): restrictive cardiomyopathy (r-CMP) and unclassified in 17 (6.1%) and 5 (1.9%) each. The average annual occurrence of new cases as a whole was 2.65 per 100,000 (95% CI: 1.5-3.7): d-CMP, 1.73/100,000/year (95% CI: 0.73-2.73): h-CMP, 0.71/100,000/year (95% CI: 0.35-1.07): r-CMP, 0.16/100,000/year (95% CI: 0.02-0.3). The median age at the time of diagnosis was 11 months in d-CMP: 3.0 years in h-CMP: 6.9 years in r-CMP. The survival rate in d-CMP was 76% at 1 year, 72.5% at 2 year, 70% at 5 year. There was no difference in survival rate according to age (in d-CMP, between children less than 2 years of age and over 2 years of age (74% vs. 79% at 1 year: 67% vs. 76% at 5 year, p=NS): in h-CMP, between children less than 1 year of age and over 1 year of age (84% vs. 96% at 1 year: 63% vs. 81% at 5 year, p=NS)). R-CMP showed the worst survival rate (72% at 1 year, 30.2% at 5 year). CONCLUSION: In spite of the inherent defects of retrospective analysis, this study provides the useful epidemiological data in children with i-CMP. However, more systemic approach is needed to define the nature of the i-CMP in children.
Cardiomyopathies*
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Cardiomyopathy, Dilated
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Cardiomyopathy, Hypertrophic
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Cardiomyopathy, Restrictive
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Child*
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Diagnosis
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Epidemiology
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Humans
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Medical Records
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Parturition
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Retrospective Studies
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Survival Rate
2.Gender Differences in Suicidal Ideation and Related Factors among North Korean Refugees in South Korea.
Jin Won NOH ; Hyunchun PARK ; Young Dae KWON ; In Hye KIM ; Yo Han LEE ; Yoon Jung KIM ; Sin Gon KIM
Psychiatry Investigation 2017;14(6):762-769
OBJECTIVE: According to previous social survey, a high number of North Korean refugees (NKRs) in South Korea had suicidal ideation. The purpose of this study is to examine the related factors for suicidal ideation among NKRs by gender in South Korea. METHODS: We examined the sample of NKRs, 701 subjects (men=160, women=-541) residing in South Korea, the participants were enrolled from October 2008 to May 2014. The related factors with suicidal ideation in NKRs were analyzed via a logistic regression analysis. RESULTS: Refugee women were more likely to have suicidal ideation than men were. Although thoughts of suicide do not necessarily mean that they will follow through, however, there is an association that the higher rate of suicide also results in a higher rate of attempted suicide. In both genders, they tended to think more frequently about suicide who had stayed in South Korea for more than 5 years. In addition, higher frequencies of suicidal ideation also associated with higher level of perceived stress in both genders. CONCLUSION: The gender difference should be addressed when designing suicide prevention interventions among the North Korean population in South Korea.
Female
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Humans
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Korea*
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Logistic Models
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Male
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Refugees*
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Suicidal Ideation*
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Suicide
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Suicide, Attempted
4.Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test
Hee-Chul SHIN ; Han-Byoel LEE ; Tae-Kyung YOO ; Eun-Shin LEE ; Ryong Nam KIM ; Boyoung PARK ; Kyong-Ah YOON ; Charny PARK ; Eun Sook LEE ; Hyeong-Gon MOON ; Dong-Young NOH ; Sun-Young KONG ; Wonshik HAN
Cancer Research and Treatment 2020;52(3):697-713
Purpose:
Hereditary cancer syndrome means that inherited genetic mutations can increase a person's risk of developing cancer. We assessed the frequency of germline mutations using an nextgeneration sequencing (NGS)–based multiple-gene panel containing 64 cancer-predisposing genes in Korean breast cancer patients with clinical features of hereditary breast and ovarian cancer syndrome (HBOC).
Materials and Methods:
A total of 64 genes associated with hereditary cancer syndrome were selected for development of an NGS-based multi-gene panel. Targeted sequencing using the multi-gene panel was performed to identify germline mutations in 496 breast cancer patients with clinical features of HBOC who underwent breast cancer surgery between January 2002 and December 2017.
Results:
Of 496 patients, 95 patients (19.2%) were found to have 48 deleterious germline mutations in 16 cancer susceptibility genes. The deleterious mutations were found in 39 of 250 patients (15.6%) who had breast cancer and another primary cancer, 38 of 169 patients (22.5%) who had a family history of breast cancer (≥ 2 relatives), 16 of 57 patients (28.1%) who had bilateral breast cancer, and 29 of 84 patients (34.5%) who were diagnosed with breast cancer at younger than 40 years of age. Of the 95 patients with deleterious mutations, 60 patients (63.2%) had BRCA1/2 mutations and 38 patients (40.0%) had non-BRCA1/2 mutations. We detected two novel deleterious mutations in BRCA2 and MLH1.
Conclusion
NGS-based multiple-gene panel testing improved the detection rates of deleterious mutations and provided a cost-effective cancer risk assessment.