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The purpose of the current study is to validate the Counseling Competencies Scale Revised (CCS-R). We used convenience sampling to recruit counselors and counselors-in-training (N = 156). Specifically, we had 130 female (83.3%) and 26 male (16.7%) participants, and the mean age was 33.16 (SD = 11.18), ranging from 20 to 62 years old. We used correlational analyses, ANOVA, and confirmatory factor analysis to understand the characteristics of the sample and assess the psychometrics of the CCS-R-K. Results showed the validity and reliability of the data, including the acceptable model fits and high alpha reliability coefficient values. We also found that the scores of the CCS-R-K were positively related to participants' years of clinical experience and educational levels. The CCS-R-K can be used as a measurement tool to objectively and comprehensively evaluate Korean counselors' competency in counselor education, contributing to cultivating counselors with the professional competencies required by our society. [ABSTRACT FROM AUTHOR]

Background: This study aimed to evaluate the work-life pattern and prevalence of occupation-related symptoms, as well as the effect of work-life balance on health status according to age and sex among Korean gastroenterologists.Methods: A total of 222 gastroenterologists from 44 nationwide centers in South Korea participated in an anonymized self-responded electronic questionnaire survey about their daily activities and symptoms for 14 days. Musculoskeletal, gastrointestinal and mental symptoms were scored using a numerical scale. The Maslach Burnout Inventory was used to measure the burnout score.Results: Korean gastroenterologists (124 men and 98 women) spent 71.5 ± 19.0 h/week for work (54.0 ± 16.2 in-hospital and 17.5 ± 9.5 out-of-hospital), without any differences regarding sex. However, women spent more time performing housework and parenting (20.7 ± 19.0) compared to men (14.3 ± 13.3, P = 0.007). Musculoskeletal pain was found in 199 respondents (89.6%), and women had a higher total pain score compared to men in all age groups (P = 0.016). Gastrointestinal and mental symptoms were found in 119 (53.6%) and 153 (68.9%), respectively. Work-life ratio was significantly correlated with musculoskeletal (P < 0.001), gastrointestinal (P = 0.048) and mental symptoms (P = 0.003). Using the Maslach Burnout Inventory, 64.4% of the respondents demonstrated burnout. Moreover, emotional exhaustion, depersonalization and personal accomplishment scores were worst in women in their 30s or 40s.Conclusion: Korean gastroenterologists suffered from musculoskeletal, gastrointestinal and mental symptoms and were highly prone to burnout due to long and laboring work. Work-life imbalance and burnout were most severe in young women doctors due to their domestic demands. [ABSTRACT FROM AUTHOR]

Introduction: Recent advances in next generation sequencing technologies have uncovered the genetic background of various diseases. The mutations in the SYNE1 gene was previously identified as a potential cause of pure cerebellar ataxia. Although autosomal recessive ataxias are slightly more frequent than autosomal dominant forms worldwide, autosomal recessive forms are extremely rare in Korea. In this study, we aimed to identify SYNE1-associated ataxia by whole exome sequencing in a Korean sample, and to review the prevalence of SYNE1 in non-French-Canadians.Methods: Patients with suspected cerebellar ataxia who visited movement disorders clinic from March 2014 to December 2017 were clinically screened. After excluding cases with acquired causes and common genetic causes in Korea, including spinocerebellar ataxia and dentatorubral-pallidoluysian atrophy, 63 undiagnosed subjects were screened for SYNE1 mutations by next generation sequencing methods.Results: We identified four novel mutations (one splicing, one truncating, and two missense mutations) distributed throughout the SYNE1 gene in two patients. The phenotype was mainly pure cerebellar ataxia in both cases. However, axonal neuropathy, mild frontal dysfunction, and autonomic dysfunction were also revealed. The age of disease onset was relatively late and the disease course was only mildly progressive.Conclusion: Our results indicate that SYNE1 mutations are not an uncommon cause of recessive ataxia with additional clinical features in the Korean population. The results of this study should alert neurologists to request SYNE1 testing to aid the diagnosis of undetermined adult-onset ataxia in Korean patients. [ABSTRACT FROM AUTHOR]

Background Atypical hemolytic uremic syndrome ( aHUS) is a rare disease with a genetic predisposition. Few studies have evaluated the disease in the Asian population. We studied a Korean pediatric cohort to delineate the clinical characteristics and genotypes. Methods A multicenter cohort of 51 Korean children with aHUS was screened for mutations using targeted exome sequencing covering 46 complement related genes. Anti-complement-factor- H autoantibody (anti- CFH) titers were measured. Multiplex ligation-dependent probe amplification assay was performed to detect deletions in the complement factor- H related protein genes ( CFHR) in the patients as well as in 100 healthy Korean controls. We grouped the patients according to etiology and compared the clinical features using Mann-Whitney U-test and chi-squared test. Results Fifteen patients (group A, 29.7%) had anti- CFH, and mutations were detected in 11 (group B, 21.6%), including one with combined mutations. The remaining 25 (group C, 49.0%) were negative for both. The prevalence of anti- CFH was higher than the worldwide level. Group A had a higher onset age than group B, although the difference was not significant. Group B had the worst renal outcome. Gene frequencies of homozygous CFHR1 deletion were 73.3%, 2.7% and 1% in group A, group B + C and the control, respectively. Conclusions The incidence of anti- CFH in the present Korean aHUS cohort was high. Clinical outcomes largely conformed to the previous reports. Although the sample size was limited, this cohort provides a reassessment of clinicogenetic features of aHUS in Korean children. [ABSTRACT FROM AUTHOR]