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.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.
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.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.
9.CD11b+Gr-1low cells that accumulate in M.leprae-induced granulomas of the footpad skin of nude mice have the characteristics of monocytic-myeloid-derived suppressor cells
Korean Leprosy Bulletin 2023;56(1):3-
CD11b+Gr-1low cells that are increased in the lungs of a Mycobacterium (M) tuberculosisinfection mouse model have the characteristics of monocytic (M) - myeloid - derived suppressor cells (MDSCs) and harbor M.tuberculosis. Interestingly, a high number of M-MDSCs have also been observed in skin lesions of patients with lepromatous leprosy.We hypothesized that CD11b+Gr-1low cells might be involved in the pathogenesis of leprosy, as they are in tuberculosis. In the current study, we investigated the issue of whether CD11b+Gr-1low cells accumulate in Mycobacterium (M) leprae-induced granulomas of the footpad skin of nude mice. Our results show that CD11b+Gr-1low cells began to accumulate in the 7-month-old M.leprae-induced granulomas and were replaced by other leukocytes, including CD11b + Gr-1 high over time during M.leprae infections. CD11b+Gr-1low cells expressed the surface markers of M-MDSC, Ly6C high and Ly6G low . In addition, CD11b+Gr-1low cells have the nuclei of a mononuclear cell type and expressed higher levels of arginase 1 (Arg1) and inducible NO synthetase (iNOS).Furthermore, they showed a higher infection rate by M.leprae. Taken together, our results indicate that the inoculation with M.leprae induced an accumulation of CD11b+Gr-1low at a relatively early stage, 7-month-old M.leprae-induced granulomas, and that CD11b+Gr-1low have the characteristics of M-MDSC and may act as a reservoir for M.leprae.
10.Aspiration Pneumonia in Preterm Infants on Oral Feeds after Aspiration is Confirmed by VFSS: Case Series
Kyeong Woo LEE ; Sang Beom KIM ; Min-Gu KANG ; Jong Hwa LEE ; Won Wook HA
Journal of the Korean Dysphagia Society 2023;13(1):48-53
Premature infants often face oral feeding problems. The videofluoroscopic swallow study (VFSS) is a commonly used method to detect subglottic aspiration. However, there is no consensus to date regarding the association of aspiration observed on VFSS and incidence of aspiration pneumonia in preterm infants. This study investigated the occurrence of aspiration pneumonia in preterm infants on oral feeds after aspiration has been confirmed by VFSS. This study included 50 preterm infants who had undergone VFSS. Among them, 13 patients with no aspiration, two patients who were lost to follow-up, and nine patients with massive aspiration were excluded from the analysis. In VFSS, the frequency and amount of aspiration, nasal penetration, suck-swallow ratio, and sucking power were assessed. We analyzed 26 patients with aspiration confirmed on VFSS but who had initiated oral feeding. The frequency of aspiration (percentage of the number of aspirations to the total number of swallowing) was 10.22±3.62 (%). The mean amount of aspiration was 2.28±1.02 (%). One preterm infant, born with very low-birthweight developed aspiration pneumonia 10days after the initiation of full oral feeding. He was diagnosed with respiratory distress syndrome and had weak sucking power. In the absence of massive aspiration, most infants with aspiration confirmed on VFSS tolerated oral feeding, especially when oral feeding was partially initiated.

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