1.A Genetically Confirmed Korean Case of CANVAS: Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
Seung Hee LEE ; Hee-Jae JUNG ; Ji-Hee YOON ; Gu-Hwan KIM ; June-Young KOH ; Yuna LEE ; Young Seok JU ; Eun-Jae LEE ; Beom Hee LEE ; Young-Min LIM ; Hyunjin KIM
Journal of the Korean Neurological Association 2025;43(1):45-49
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a neurodegenerative disorder caused by a biallelic expansion of pentanucleotide repeats in the RFC1 gene. Previous studies have reported up to 22% of patients with late-onset ataxia harbor this pathogenic repeat expansion. Despite its relatively high prevalence, CANVAS is often underdiagnosed because the disease is not well recognized and genetic testing is not performed in clinical practice. Here, we present a patient with characteristic clinical features, confirmed by genetic testing.
2.Nutrition Status and Comorbidities Are Important Factors Associated With Mortality During Anti-Tuberculosis Treatment
Oh Beom KWON ; Hyung Woo KIM ; Ju Sang KIM ; Eung Gu LEE ; Yeonhee PARK ; Sung Soo JUNG ; Jin Woo KIM ; Jee Youn OH ; Sang Haak LEE ; Seunghoon KIM ; Sun-Hyung KIM ; Jiwon LYU ; Yousang KO ; Sun Jung KWON ; Ganghee CHAE ; Jinsoo MIN
Journal of Korean Medical Science 2025;40(17):e73-
Background:
The increasing incidence and mortality rates of tuberculosis among older individuals who suffer from multiple morbidities and are vulnerable to malnutrition are major obstacles to efforts to eradicate tuberculosis in the Republic of Korea. Herein, we identified the factors associated with mortality during anti-tuberculosis treatment in patients with pulmonary tuberculosis.
Methods:
We conducted a case-control study and extracted data from the database of a multi-center prospective observational cohort study in Korea. Among the participants with rifampicin-susceptible pulmonary tuberculosis, the survival group was defined as those who successfully completed treatment within one year, whereas the mortality group was defined as those who died during treatment. Univariable and multivariable logistic regression analyses were performed to identify factors associated with TB mortality.
Results:
Among 1,119 participants with pulmonary TB registered between 2019 and 2021, 799 and 59 were grouped in the survival and mortality groups, respectively. Age, positive smear results, alarming symptoms, nutrition risk score, Charlson comorbidity index score, and initial standard treatment regimen were significant based on univariable analysis and were selected for the multivariable logistic regression model. Nutrition risk score (adjusted odds ratio, 2.44; 95% confidence interval, 1.72–3.48) and Charlson comorbidity index score (adjusted odds ratio, 1.62; 95% confidence interval, 1.35–1.94) remained statistically significant in the multivariate analysis.
Conclusion
Nutritional status and comorbidities at baseline were identified as important factors associated with mortality in patients with pulmonary tuberculosis.
3.A Genetically Confirmed Korean Case of CANVAS: Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
Seung Hee LEE ; Hee-Jae JUNG ; Ji-Hee YOON ; Gu-Hwan KIM ; June-Young KOH ; Yuna LEE ; Young Seok JU ; Eun-Jae LEE ; Beom Hee LEE ; Young-Min LIM ; Hyunjin KIM
Journal of the Korean Neurological Association 2025;43(1):45-49
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a neurodegenerative disorder caused by a biallelic expansion of pentanucleotide repeats in the RFC1 gene. Previous studies have reported up to 22% of patients with late-onset ataxia harbor this pathogenic repeat expansion. Despite its relatively high prevalence, CANVAS is often underdiagnosed because the disease is not well recognized and genetic testing is not performed in clinical practice. Here, we present a patient with characteristic clinical features, confirmed by genetic testing.
4.Nutrition Status and Comorbidities Are Important Factors Associated With Mortality During Anti-Tuberculosis Treatment
Oh Beom KWON ; Hyung Woo KIM ; Ju Sang KIM ; Eung Gu LEE ; Yeonhee PARK ; Sung Soo JUNG ; Jin Woo KIM ; Jee Youn OH ; Sang Haak LEE ; Seunghoon KIM ; Sun-Hyung KIM ; Jiwon LYU ; Yousang KO ; Sun Jung KWON ; Ganghee CHAE ; Jinsoo MIN
Journal of Korean Medical Science 2025;40(17):e73-
Background:
The increasing incidence and mortality rates of tuberculosis among older individuals who suffer from multiple morbidities and are vulnerable to malnutrition are major obstacles to efforts to eradicate tuberculosis in the Republic of Korea. Herein, we identified the factors associated with mortality during anti-tuberculosis treatment in patients with pulmonary tuberculosis.
Methods:
We conducted a case-control study and extracted data from the database of a multi-center prospective observational cohort study in Korea. Among the participants with rifampicin-susceptible pulmonary tuberculosis, the survival group was defined as those who successfully completed treatment within one year, whereas the mortality group was defined as those who died during treatment. Univariable and multivariable logistic regression analyses were performed to identify factors associated with TB mortality.
Results:
Among 1,119 participants with pulmonary TB registered between 2019 and 2021, 799 and 59 were grouped in the survival and mortality groups, respectively. Age, positive smear results, alarming symptoms, nutrition risk score, Charlson comorbidity index score, and initial standard treatment regimen were significant based on univariable analysis and were selected for the multivariable logistic regression model. Nutrition risk score (adjusted odds ratio, 2.44; 95% confidence interval, 1.72–3.48) and Charlson comorbidity index score (adjusted odds ratio, 1.62; 95% confidence interval, 1.35–1.94) remained statistically significant in the multivariate analysis.
Conclusion
Nutritional status and comorbidities at baseline were identified as important factors associated with mortality in patients with pulmonary tuberculosis.
5.A Genetically Confirmed Korean Case of CANVAS: Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
Seung Hee LEE ; Hee-Jae JUNG ; Ji-Hee YOON ; Gu-Hwan KIM ; June-Young KOH ; Yuna LEE ; Young Seok JU ; Eun-Jae LEE ; Beom Hee LEE ; Young-Min LIM ; Hyunjin KIM
Journal of the Korean Neurological Association 2025;43(1):45-49
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a neurodegenerative disorder caused by a biallelic expansion of pentanucleotide repeats in the RFC1 gene. Previous studies have reported up to 22% of patients with late-onset ataxia harbor this pathogenic repeat expansion. Despite its relatively high prevalence, CANVAS is often underdiagnosed because the disease is not well recognized and genetic testing is not performed in clinical practice. Here, we present a patient with characteristic clinical features, confirmed by genetic testing.
6.Nutrition Status and Comorbidities Are Important Factors Associated With Mortality During Anti-Tuberculosis Treatment
Oh Beom KWON ; Hyung Woo KIM ; Ju Sang KIM ; Eung Gu LEE ; Yeonhee PARK ; Sung Soo JUNG ; Jin Woo KIM ; Jee Youn OH ; Sang Haak LEE ; Seunghoon KIM ; Sun-Hyung KIM ; Jiwon LYU ; Yousang KO ; Sun Jung KWON ; Ganghee CHAE ; Jinsoo MIN
Journal of Korean Medical Science 2025;40(17):e73-
Background:
The increasing incidence and mortality rates of tuberculosis among older individuals who suffer from multiple morbidities and are vulnerable to malnutrition are major obstacles to efforts to eradicate tuberculosis in the Republic of Korea. Herein, we identified the factors associated with mortality during anti-tuberculosis treatment in patients with pulmonary tuberculosis.
Methods:
We conducted a case-control study and extracted data from the database of a multi-center prospective observational cohort study in Korea. Among the participants with rifampicin-susceptible pulmonary tuberculosis, the survival group was defined as those who successfully completed treatment within one year, whereas the mortality group was defined as those who died during treatment. Univariable and multivariable logistic regression analyses were performed to identify factors associated with TB mortality.
Results:
Among 1,119 participants with pulmonary TB registered between 2019 and 2021, 799 and 59 were grouped in the survival and mortality groups, respectively. Age, positive smear results, alarming symptoms, nutrition risk score, Charlson comorbidity index score, and initial standard treatment regimen were significant based on univariable analysis and were selected for the multivariable logistic regression model. Nutrition risk score (adjusted odds ratio, 2.44; 95% confidence interval, 1.72–3.48) and Charlson comorbidity index score (adjusted odds ratio, 1.62; 95% confidence interval, 1.35–1.94) remained statistically significant in the multivariate analysis.
Conclusion
Nutritional status and comorbidities at baseline were identified as important factors associated with mortality in patients with pulmonary tuberculosis.
7.Nutrition Status and Comorbidities Are Important Factors Associated With Mortality During Anti-Tuberculosis Treatment
Oh Beom KWON ; Hyung Woo KIM ; Ju Sang KIM ; Eung Gu LEE ; Yeonhee PARK ; Sung Soo JUNG ; Jin Woo KIM ; Jee Youn OH ; Sang Haak LEE ; Seunghoon KIM ; Sun-Hyung KIM ; Jiwon LYU ; Yousang KO ; Sun Jung KWON ; Ganghee CHAE ; Jinsoo MIN
Journal of Korean Medical Science 2025;40(17):e73-
Background:
The increasing incidence and mortality rates of tuberculosis among older individuals who suffer from multiple morbidities and are vulnerable to malnutrition are major obstacles to efforts to eradicate tuberculosis in the Republic of Korea. Herein, we identified the factors associated with mortality during anti-tuberculosis treatment in patients with pulmonary tuberculosis.
Methods:
We conducted a case-control study and extracted data from the database of a multi-center prospective observational cohort study in Korea. Among the participants with rifampicin-susceptible pulmonary tuberculosis, the survival group was defined as those who successfully completed treatment within one year, whereas the mortality group was defined as those who died during treatment. Univariable and multivariable logistic regression analyses were performed to identify factors associated with TB mortality.
Results:
Among 1,119 participants with pulmonary TB registered between 2019 and 2021, 799 and 59 were grouped in the survival and mortality groups, respectively. Age, positive smear results, alarming symptoms, nutrition risk score, Charlson comorbidity index score, and initial standard treatment regimen were significant based on univariable analysis and were selected for the multivariable logistic regression model. Nutrition risk score (adjusted odds ratio, 2.44; 95% confidence interval, 1.72–3.48) and Charlson comorbidity index score (adjusted odds ratio, 1.62; 95% confidence interval, 1.35–1.94) remained statistically significant in the multivariate analysis.
Conclusion
Nutritional status and comorbidities at baseline were identified as important factors associated with mortality in patients with pulmonary tuberculosis.
8.Perception on the Intestinal Malrotation: A 2021 Survey Conducted by the Korean Association of Pediatric Surgeons
Hee-Beom YANG ; Min Jeng CHO ; Yu Jeong CHO ; Yoon Mi CHOI ; Jae Hee CHUNG ; Seok Joo HAN ; Jeong HONG ; Eunyoung JUNG ; Ki Hoon KIM ; Soo-Hong KIM ; Cheol-Gu LEE ; Nam-Hyuk LEE ; Ju Yeon LEE ; Sanghoon LEE ; Suk Bae MOON ; Young-Hyun NA ; So Hyun NAM ; Chaeyoun OH ; Jin Young PARK ; Junbeom PARK ; Tae-Jin PARK ; Jae Ho SHIN ; Joonhyuk SON ; Hyun-Young KIM ;
Advances in Pediatric Surgery 2025;31(2):59-65
Purpose:
To report the findings of a perception survey on intestinal malrotation conducted by the Korean Association of Pediatric Surgeons (KAPS) in 2021.
Methods:
The perceptions on intestinal malrotation regarding clinical decision making of the KAPS members were collected through web-based survey.
Results:
A total of 22 surgeons were answered for this study. The results were presented and discussed at the 37th annual meeting of KAPS, which was held in Seoul on June 18, 2021.
Conclusion
This study provides the clinical decisions of the KAPS members on the intestinal malrotation. The study is expected to be an important reference for improving pediatric surgeons’ understanding and treatment of intestinal malrotation.
9.Low Serum 25-Hydroxyvitamin D as a Risk Factor for Frailty in Community-Dwelling Older Men: A Korean Nationwide Study
Jeongmin LEE ; Min-gu KANG ; Jeonghoon HA ; Yunju JO ; Dongryeol RYU ; Hee-Won JUNG ; Ki-Hyun BAEK ; Beom-Jun KIM
Endocrinology and Metabolism 2025;40(6):961-973
Background:
Despite the critical role of vitamin D in various biological processes, its impact on frailty—a condition closely linked to biological age—remains inconclusive. This study aimed to explore the association between serum 25-hydroxyvitamin D (25[OH] D) levels and frailty status in older Korean adults, utilizing a comprehensive frailty index (FI) and a nationally representative dataset.
Methods:
This cross-sectional study included 6,589 participants aged ≥65 years from the Korea National Health and Nutrition Examination Survey (2008–2012). Frailty was assessed using a deficit accumulation FI based on 38 physical, cognitive, psychological, and social items.
Results:
After adjusting for potential confounders, frail men showed 6.8% lower serum 25(OH)D concentrations compared to nonfrail controls (P=0.007). Men in the lowest serum 25(OH)D quartile (≤39.3 nmol/L) exhibited a 5.3% higher FI (P=0.047) and 1.71-fold increased odds of frailty (P=0.005), compared to those in the highest quartile (>63.3 nmol/L). Similarly, men with vitamin D deficiency (<30 nmol/L) exhibited a 9.6% higher FI compared to those with sufficient vitamin D levels (≥50 nmol/L; P=0.004). However, no significant association between serum 25(OH)D concentration and frailty was observed in women across any analysis.
Conclusion
These findings suggest that low serum 25(OH)D concentrations are a potential risk factor for frailty, particularly in men. Further research is warranted to determine whether vitamin D supplementation in such high-risk older adults could help mitigate frailty.

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