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.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.
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.Mixture of Corni Fructus and Schisandrae Fructus improves testosterone-induced benign prostatic hyperplasia through regulating 5α-reductase 2 and androgen receptor
Hyun HWANGBO ; Min Yeong KIM ; Seon Yeong JI ; Beom Su PARK ; TaeHee KIM ; Seonhye YOON ; Hyunjin KIM ; Sung Yeon KIM ; Haeun JUNG ; Taeiung KIM ; Hyesook LEE ; Gi-Young KIM ; Yung Hyun CHOI
Nutrition Research and Practice 2023;17(1):32-47
BACKGROUND/OBJECTIVES:
Benign prostatic hyperplasia (BPH) characterized by an enlarged prostate gland is common in elderly men. Corni Fructus (CF) and Schisandrae Fructus (SF) are known to have various pharmacological effects, including antioxidant and anti-inflammatory activities. In this study, we evaluated the inhibitory efficacy of CF, SF, and their mixture (MIX) on the development of BPH using an in vivo model of testosteroneinduced BPH.MATERIALS/METHODS: Six-week-old male Sprague-Dawley rats were randomly divided into seven groups. To induce BPH, testosterone propionate (TP) was injected to rats except for those in the control group. Finasteride, saw palmetto (SP), CF, SF, and MIX were orally administered along with TP injection. At the end of treatment, histological changes in the prostate and the level of various biomarkers related to BPH were evaluated.
RESULTS:
Our results showed that BPH induced by TP led to prostate weight and histological changes. Treatment with MIX effectively improved TP-induced BPH by reducing prostate index, lumen area, epithelial thickness, and expression of BPH biomarkers such as 5α-reductase type 2, prostate-specific antigen, androgen receptor, and proliferating cell nuclear antigen compared to treatment with CF or SF alone. Moreover, MIX further reduced levels of elevated serum testosterone, dihydrotestosterone, and prostate-specific antigen in BPH compared to the SP, a positive control. BPH was also improved more by MIX than by CF or SF alone.
CONCLUSIONS
Based on the results, MIX is a potential natural therapeutic candidate for BPH by regulating 5α-reductase and AR signaling pathway.
6.Systematic Search and Qualitative Evaluation of Dietary Supplement Mobile Applications: Using the Mobile Application Rating Scale (MARS)
Hyeon Ji LEE ; Si Hyun SEONG ; Hyunjin CHUNG ; Yun Jeong LEE ; Jae-Hyun KIM
Korean Journal of Clinical Pharmacy 2023;33(1):51-61
Background:
Mobile applications (apps) on dietary supplements can increase consumers’ access to information. However, it can lead to indiscriminate use of dietary supplements. This study aims to systematically review dietary supplement apps released in English and Korean and evaluate the quality of those apps.
Methods:
Through the app stores, apps on dietary supplements were systemically searched and examined. Two independent evaluators evaluated the apps and presented a mean score using the Mobile App Rating Scale (MARS). The correlation between MARS scores, user and evaluator ratings, and the number of secondary features of the apps were analyzed.
Results:
Of the 2,772 dietary supplement apps identified, 17 apps were included according to the selection criteria. The mean MARS score was 3.28 (standard deviation: 0.29) out of 5. Apps had higher scores in aesthetics and functionality dimensions, while engagement and information dimensions had lower scores. There was a positive correlation between the number of app downloads and information among MARS dimensions. The subjective evaluation also correlated with the information dimension. There was a positive correlation between the secondary features of the apps and MARS total score as well as the engagement dimension.
Conclusion
The dietary supplement apps need to be managed at a higher level of quality to provide safe and reliable information to consumers. Especially, quality on information and engagement dimensions can be improved. Involvement of healthcare professionals in the app development, management with adequate referencing of information, and use of secondary features for enhanced user engagement can be helpful.
7.Comparison of cardiovascular event predictability between the 2009 and 2021 Chronic Kidney Disease Epidemiology Collaboration equations in a Korean chronic kidney disease cohort: the KoreaN Cohort Study for Outcome in Patients With Chronic Kidney Disease
Ji Hye KIM ; Minjung KANG ; Eunjeong KANG ; Hyunjin RYU ; Yujin JEONG ; Jayoun KIM ; Sue K. PARK ; Jong Cheol JEONG ; Tae-Hyun YOO ; Yaeni KIM ; Yong Chul KIM ; Seung Seok HAN ; Hajeong LEE ; Kook-Hwan OH
Kidney Research and Clinical Practice 2023;42(6):700-711
The 2009 Chronic Kidney Disease Epidemiology Collaboration creatinine-based estimated glomerular filtration rate (eGFRcr) equation contains a race component that is not based on biology and may cause a bias in results. Therefore, the 2021 eGFRcr and creatinine-cystatin C–based eGFR (eGFRcr-cysC) equations were developed with no consideration of race. This study compared the cardiovascular event (CVE) and all-cause mortality and CVE combined predictability among the three eGFR equations in Korean chronic kidney disease (CKD) patients. Methods: This study included 2,207 patients from the KoreaN Cohort Study for Outcome in Patients With Chronic Kidney Disease. Receiver operating characteristic (ROC) and net reclassification improvement (NRI) index were used to compare the predictability of the study outcomes according to the 2009 eGFRcr, 2021 eGFRcr, and 2021 eGFRcr-cysC equations. Results: The overall prevalence of CVE and all-cause mortality were 9% and 7%, respectively. There was no difference in area under the curve of ROC for CVE and mortality and CVE combined among all three equations. Compared to the 2009 eGFRcr, both the 2021 eGFRcr (NRI, 0.013; 95% confidence interval [CI], – 0.002 to 0.028) and the eGFRcr-cysC (NRI, –0.001; 95% CI, –0.031 to 0.029) equations did not show improved CVE predictability. Similar findings were observed for mortality and CVE combined predictability with both the 2021 eGFRcr (NRI, –0.019; 95% CI, –0.039–0.000) and the eGFRcr-cysC (NRI, –0.002; 95% CI, –0.023 to 0.018). Conclusion: The 2009 eGFRcr equation was not inferior to either the 2021 eGFRcr or eGFRcr-cysC equation in predicting CVE and the composite of mortality and CVE in Korean CKD patients.
9.The Association between Thyroid Function and Metabolic Syndrome in Euthyroid Korean Male Adults: Korean National Health and Nutrition Examination Survey VI
Soo Gyeong PARK ; Do Hoon KIM ; Joo Hyun PARK ; E Yeon KIM ; Moonyoung CHOI ; Hyonchong KIM ; Da Eun SEUL ; Hyunjin KIM ; Kang Uk LEE ; Myung Ji NAM ; Kyungdo HAN ; Da Hye KIM
Korean Journal of Family Practice 2019;9(2):154-160
BACKGROUND: Thyroid hormones are one of the key factors involved in energy, lipid, and glucose metabolisms. Many studies have been conducted to establish the association between thyroid function and metabolic syndrome. This study aimed to identify the association between thyroid hormone and metabolic syndrome in euthyroid Korean male adults.METHODS: Using data from the sixth Korea National Health and Nutrition Examination Survey from 2013 to 2015, this cross-sectional study of 2,285 male adults was conducted. Subjects who had thyroid diseases and were not euthyroid were excluded. The included subjects were divided into four groups according to free thyroxine (fT4) and thyroid-stimulating hormone levels. We analyzed the prevalence and adjusted odds ratio of metabolic syndrome according to thyroid hormone levels.RESULTS: The prevalence of metabolic syndrome and its components decreased constantly from the lowest fT4 quartile to the highest fT4 quartile. Compared with that in the lowest fT4 quartile, the adjusted odds ratio of hypertriglyceridemia in the highest fT4 quartile was 0.651.CONCLUSION: In euthyroid subjects, fT4 levels are associated with metabolic syndrome and all its components.
Adult
;
Cross-Sectional Studies
;
Glucose
;
Humans
;
Hypertriglyceridemia
;
Korea
;
Male
;
Nutrition Surveys
;
Odds Ratio
;
Prevalence
;
Thyroid Diseases
;
Thyroid Gland
;
Thyroid Hormones
;
Thyrotropin
;
Thyroxine
10.Cardiac arrest caused by nafamostat mesilate.
Hyo Shik KIM ; Kyung Eun LEE ; Ji Hyun OH ; Chan Sung JUNG ; Dughyun CHOI ; Yunsuek KIM ; Jin Seok JEON ; Dong Cheol HAN ; Hyunjin NOH
Kidney Research and Clinical Practice 2016;35(3):187-189
A 65-year-old man was transferred from the Department of Vascular Surgery to Nephrology because of cardiac arrest during hemodialysis. He underwent incision and drainage for treatment of a buttock abscess. Nafamostat mesilate was used as an anticoagulant for hemodialysis to address bleeding from the incision and drainage site. Sudden cardiac arrest occurred after 15 minutes of dialysis. The patient was treated in the intensive care unit for 5 days. Continuous veno-venous hemodiafiltration was started without any anticoagulant in the intensive care unit. Conventional hemodialysis was reinitiated, and nafamostat mesilate was used again because of a small amount of continued bleeding. Ten minutes after hemodialysis, the patient complained of anaphylactic signs and symptoms such as dyspnea, hypotension, and facial swelling. Epinephrine, dexamethasone, and pheniramin were injected under the suspicion of anaphylactic shock, and the patient recovered. Total immunoglobulin E titer was high, and skin prick test revealed weak positivity for nafamostat mesilate. We first report a case of anaphylactic shock caused by nafamostat mesilate in Korea.
Abscess
;
Aged
;
Anaphylaxis
;
Buttocks
;
Death, Sudden, Cardiac
;
Dexamethasone
;
Dialysis
;
Drainage
;
Dyspnea
;
Epinephrine
;
Heart Arrest*
;
Hemodiafiltration
;
Hemorrhage
;
Humans
;
Hypotension
;
Immunoglobulin E
;
Immunoglobulins
;
Intensive Care Units
;
Korea
;
Mesylates*
;
Nephrology
;
Renal Dialysis
;
Skin

Result Analysis
Print
Save
E-mail