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.

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.

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.

Background: It is well known that a large number of patients with diabetes also have dyslipidemia, which significantly increases the risk of cardiovascular disease (CVD). This study aimed to evaluate the efficacy and safety of combination drugs consisting of metformin and atorvastatin, widely used as therapeutic agents for diabetes and dyslipidemia. Methods: This randomized, double-blind, placebo-controlled, parallel-group and phase III multicenter study included adults with glycosylated hemoglobin (HbA1c) levels >7.0% and <10.0%, low-density lipoprotein cholesterol (LDL-C) >100 and <250 mg/dL. One hundred eighty-five eligible subjects were randomized to the combination group (metformin+atorvastatin), metformin group (metformin+atorvastatin placebo), and atorvastatin group (atorvastatin+metformin placebo). The primary efficacy endpoints were the percent changes in HbA1c and LDL-C levels from baseline at the end of the treatment. Results: After 16 weeks of treatment compared to baseline, HbA1c showed a significant difference of 0.94% compared to the atorvastatin group in the combination group (0.35% vs. −0.58%, respectively; P<0.0001), whereas the proportion of patients with increased HbA1c was also 62% and 15%, respectively, showing a significant difference (P<0.001). The combination group also showed a significant decrease in LDL-C levels compared to the metformin group (−55.20% vs. −7.69%, P<0.001) without previously unknown adverse drug events. Conclusion The addition of atorvastatin to metformin improved HbA1c and LDL-C levels to a significant extent compared to metformin or atorvastatin alone in diabetes and dyslipidemia patients. This study also suggested metformin’s preventive effect on the glucose-elevating potential of atorvastatin in patients with type 2 diabetes mellitus and dyslipidemia, insufficiently controlled with exercise and diet. Metformin and atorvastatin combination might be an effective treatment in reducing the CVD risk in patients with both diabetes and dyslipidemia because of its lowering effect on LDL-C and glucose.

We investigated whether endurance exercise training (EXT) ameliorates circadian rhythm (CR)-induced risk factors by improving skeletal muscle (SKM) mitochondrial biogenesis, reducing oxidative stress, and modulating apoptotic protein expression. We distinguished between regular and shift workers using the National Health and Nutrition Examination Survey (NHANES) and investigated the health problems caused by shift work (CR disturbance) and the potential therapeutic effects of exercise. In our animal study, 36 rats underwent 12 weeks of CR disturbance, divided into regular and irregular CR groups. These groups were further split into EXT (n = 12) and sedentary (n = 12) for an additional 8 weeks. We analyzed SKM tissue to understand the molecular changes induced by CR and EXT. NHANES data were analyzed using SAS 9.4 and Prism 8 software, while experimental animal data were analyzed using Prism 8 software. The statistical procedures used in each experiment are indicated in the figure legends. Our studies showed that CR disturbance increases dyslipidemia, alters circadian clock proteins (BMAL1, PER2), raises apoptotic protein levels, and reduces mitochondrial biogenesis in SKM. EXT improved LDL-C and HDLC levels without affecting muscle BMAL1 expression. It also enhanced mitochondrial biogenesis (AMPK, PGC-1α, Tfam, NADH-UO, COX-I), antioxidant levels (Catalase, SOD1, SOD2), and apoptotic protein (p53, Bax/Bcl2) expression or activity in SKM. We demonstrated that shift work-induced CR disturbance leads to dyslipidemia, diminished mitochondrial biogenesis, and reduced antioxidant capacity in SKM. However, EXT can counteract dyslipidemia under CR disturbance, potentially lowering the risk of cardiovascular disorders.

We investigated whether endurance exercise training (EXT) ameliorates circadian rhythm (CR)-induced risk factors by improving skeletal muscle (SKM) mitochondrial biogenesis, reducing oxidative stress, and modulating apoptotic protein expression. We distinguished between regular and shift workers using the National Health and Nutrition Examination Survey (NHANES) and investigated the health problems caused by shift work (CR disturbance) and the potential therapeutic effects of exercise. In our animal study, 36 rats underwent 12 weeks of CR disturbance, divided into regular and irregular CR groups. These groups were further split into EXT (n = 12) and sedentary (n = 12) for an additional 8 weeks. We analyzed SKM tissue to understand the molecular changes induced by CR and EXT. NHANES data were analyzed using SAS 9.4 and Prism 8 software, while experimental animal data were analyzed using Prism 8 software. The statistical procedures used in each experiment are indicated in the figure legends. Our studies showed that CR disturbance increases dyslipidemia, alters circadian clock proteins (BMAL1, PER2), raises apoptotic protein levels, and reduces mitochondrial biogenesis in SKM. EXT improved LDL-C and HDLC levels without affecting muscle BMAL1 expression. It also enhanced mitochondrial biogenesis (AMPK, PGC-1α, Tfam, NADH-UO, COX-I), antioxidant levels (Catalase, SOD1, SOD2), and apoptotic protein (p53, Bax/Bcl2) expression or activity in SKM. We demonstrated that shift work-induced CR disturbance leads to dyslipidemia, diminished mitochondrial biogenesis, and reduced antioxidant capacity in SKM. However, EXT can counteract dyslipidemia under CR disturbance, potentially lowering the risk of cardiovascular disorders.

Purpose: This study evaluates the viability of a new method that employs transperineal targeted biopsy with frozen section analysis immediately followed by robot-assisted radical prostatectomy (RARP), bypassing the traditional systematic biopsy deemed essential by current guidelines. Materials and Methods: Patient selection was based on the following inclusion criteria: those who underwent magnetic resonance imaging (MRI)-ultrasound fusion-targeted biopsy with frozen section analysis and concurrent RARP. Eligibility also required features indicative of Prostate Imaging-Reporting and Data System (PI-RADS) 5 lesion on multiparametric MRI, along with one of these additional criteria: (1) MRI evidence suggesting extracapsular extension (ECE) with a prostate-specific antigen (PSA) level >10 ng/mL, or (2) a PSA level > 20 ng/mL. Results: Twelve patients were enrolled in this study according to inclusion criteria. The median age (interquartile range) was 73.5 (69.5–75.3) years and PSA was 22.9 (17.0–29.9) ng/mL. Three patients had PI-RADS 5 lesions, and 9 had PI-RADS 5 lesions with findings of ECE. In all cases, the diagnosis based on frozen sections confirmed adenocarcinoma. Following confirmation, each patient underwent immediate RARP. According to the final pathology report, 2 patients had International Society of Urological Pathology (ISUP) grade 2 disease, 7 patients had ISUP grade 3, 1 had ISUP grade 4, and 2 had ISUP grade 5 disease. Four patients had stage pT2 disease, 3 had stage pT3a, and 5 had stage pT3b. The median immediate reporting time of the target biopsy frozen section was 20 (19.3–24.5) minutes. No perioperative complications related to target biopsy were observed. Conclusion For patients with a strong suspicion of prostate cancer and a PI-RADS 5 lesion, integrating simultaneous prostate frozen target biopsy with radical prostatectomy may offer a feasible treatment alternative, obviating the necessity for a preoperative systematic biopsy.

Purpose: Erectile dysfunction (ED) is considered a microvascular disorder and serves as an indicator for the potential development of cardiovascular disease (CVD). Although left ventricular diastolic dysfunction (LVDD) reflects early myocardial damage caused by microvascular disorders, the association between ED and LVDD remains poorly elucidated. Materials and Methods: A cross-sectional study was conducted on 123 patients with ED. They underwent RigiScan, and conventional echocardiography, and attempted International Index of Erectile Function (IIEF) questionnaire. ED severity was evaluated by measuring changes in the penile base circumference and duration of penile rigidity (≥70%) during erection. The early diastolic velocity of mitral inflow (E) and early diastolic velocity of the mitral annulus (e′) were measured using echocardiography. The patients were grouped based on the presence of CVD. Results: Among 123 patients, 29 had CVD and 94 did not. Patients with CVD exhibited more pronounced ED and more severe LVDD. Associations between increased penile circumference with echocardiographic parameters were more prominent in patients with CVD than in those without CVD (ΔTtop and e′ wave, r=0.508 and r=0.282, respectively, p for interaction=0.033; ΔTbase and E/e′ ratio, r=-0.338 and r=-0.293, respectively, p for interaction <0.001). In the multivariate linear regression, the increase of penile base circumference was an independent risk factor for LVDD (e′, B=0.503; E/e′ ratio, B=-1.416, respectively, p<0.001). Conclusions ED severity correlated well with LV diastolic dysfunction, particularly in the presence of CVD. This study highlighted the potential role of ED assessment as early indicator of CVD development.

Objectives: This study aimed to explore whether there are differences in smoking status between two regions of Wonju-City and Chuncheon-City, Gangwon State, and to determine whether the experience of smoking cessation programs in the region affects quit attempts. Methods: The study design was a cross-sectional study in which adults aged 19 and older living in two cities were surveyed using a pre-developed mobile app to investigate social capital for smoking cessation, and a total of 600 citizens were participated, including 310 in Wonju-City and 290 in Chuncheon-City.The statistical analysis was conducted using chi-square test and logistic regression analysis. Results: Wonju-City had a higher prevalence of current smoking than Chuncheon-City. Among smoking cessation programs operated by local public health centers, Wonju-City had a lower odds ratio for experience with smoking cessation education than Chuncheon-City (OR=0.52, 95% CI=0.33 to 0.81). When examining the effect of smoking cessation program experience on quit attempts, in Wonju-City, citizens who had completed smoking cessation education and used a smoking cessation clinic were more likely to attempt to quit than those who had not (OR=2.31 and OR=2.29, respectively). In Chuncheon-City, citizens who were aware of smoking cessation support services were 2.26 times more likely to attempt to quit smoking than those who were not, but statistical significance was not reached due to the small sample size. Conclusion Therefore, healthcare organizations in both regions should develop more practical intervention strategies to increase smokers' quit attempts, reduce smoking rates in the community, and address regional disparities.

Purpose: This study evaluates the viability of a new method that employs transperineal targeted biopsy with frozen section analysis immediately followed by robot-assisted radical prostatectomy (RARP), bypassing the traditional systematic biopsy deemed essential by current guidelines. Materials and Methods: Patient selection was based on the following inclusion criteria: those who underwent magnetic resonance imaging (MRI)-ultrasound fusion-targeted biopsy with frozen section analysis and concurrent RARP. Eligibility also required features indicative of Prostate Imaging-Reporting and Data System (PI-RADS) 5 lesion on multiparametric MRI, along with one of these additional criteria: (1) MRI evidence suggesting extracapsular extension (ECE) with a prostate-specific antigen (PSA) level >10 ng/mL, or (2) a PSA level > 20 ng/mL. Results: Twelve patients were enrolled in this study according to inclusion criteria. The median age (interquartile range) was 73.5 (69.5–75.3) years and PSA was 22.9 (17.0–29.9) ng/mL. Three patients had PI-RADS 5 lesions, and 9 had PI-RADS 5 lesions with findings of ECE. In all cases, the diagnosis based on frozen sections confirmed adenocarcinoma. Following confirmation, each patient underwent immediate RARP. According to the final pathology report, 2 patients had International Society of Urological Pathology (ISUP) grade 2 disease, 7 patients had ISUP grade 3, 1 had ISUP grade 4, and 2 had ISUP grade 5 disease. Four patients had stage pT2 disease, 3 had stage pT3a, and 5 had stage pT3b. The median immediate reporting time of the target biopsy frozen section was 20 (19.3–24.5) minutes. No perioperative complications related to target biopsy were observed. Conclusion For patients with a strong suspicion of prostate cancer and a PI-RADS 5 lesion, integrating simultaneous prostate frozen target biopsy with radical prostatectomy may offer a feasible treatment alternative, obviating the necessity for a preoperative systematic biopsy.