Background: and Purpose Treatments for neuromyelitis optica spectrum disorder (NMOSD) such as eculizumab, ravulizumab, satralizumab, and inebilizumab have significantly advanced relapse prevention, but they remain expensive. Rituximab is an off-label yet popular alternative that offers a cost-effective solution, but its real-world efficacy needs better quantification for guiding the application of newer approved NMOSD treatments (ANTs). This study aimed to determine real-world rituximab failure rates to anticipate the demand for ANTs and aid in resource allocation. Methods: We conducted a nationwide retrospective study involving 605 aquaporin-4-antibody-positive NMOSD patients from 22 centers in South Korea that assessed the efficacy and safety of rituximab over a median follow-up of 47 months. Results: The 605 patients treated with rituximab included 525 (87%) who received continuous therapy throughout the follow-up period (median=47 months, interquartile range=15–87 months). During this period, 117 patients (19%) experienced at least 1 relapse. Notably, 68 of these patients (11% of the total cohort) experienced multiple relapses or at least 1 severe relapse.Additionally, 2% of the patients discontinued rituximab due to adverse events, which included severe infusion reactions, neutropenia, and infections. Conclusions This study has confirmed the efficacy of rituximab in treating NMOSD, as evidenced by an 87% continuation rate among patients over a 4-year follow-up period. Nevertheless, the occurrence of at least one relapse in 19% of the cohort, including 11% who experienced multiple or severe relapses, and a 2% discontinuation rate due to adverse events highlight the urgent need for alternative therapeutic options.

Background: and Purpose Treatments for neuromyelitis optica spectrum disorder (NMOSD) such as eculizumab, ravulizumab, satralizumab, and inebilizumab have significantly advanced relapse prevention, but they remain expensive. Rituximab is an off-label yet popular alternative that offers a cost-effective solution, but its real-world efficacy needs better quantification for guiding the application of newer approved NMOSD treatments (ANTs). This study aimed to determine real-world rituximab failure rates to anticipate the demand for ANTs and aid in resource allocation. Methods: We conducted a nationwide retrospective study involving 605 aquaporin-4-antibody-positive NMOSD patients from 22 centers in South Korea that assessed the efficacy and safety of rituximab over a median follow-up of 47 months. Results: The 605 patients treated with rituximab included 525 (87%) who received continuous therapy throughout the follow-up period (median=47 months, interquartile range=15–87 months). During this period, 117 patients (19%) experienced at least 1 relapse. Notably, 68 of these patients (11% of the total cohort) experienced multiple relapses or at least 1 severe relapse.Additionally, 2% of the patients discontinued rituximab due to adverse events, which included severe infusion reactions, neutropenia, and infections. Conclusions This study has confirmed the efficacy of rituximab in treating NMOSD, as evidenced by an 87% continuation rate among patients over a 4-year follow-up period. Nevertheless, the occurrence of at least one relapse in 19% of the cohort, including 11% who experienced multiple or severe relapses, and a 2% discontinuation rate due to adverse events highlight the urgent need for alternative therapeutic options.

Background: and Purpose Treatments for neuromyelitis optica spectrum disorder (NMOSD) such as eculizumab, ravulizumab, satralizumab, and inebilizumab have significantly advanced relapse prevention, but they remain expensive. Rituximab is an off-label yet popular alternative that offers a cost-effective solution, but its real-world efficacy needs better quantification for guiding the application of newer approved NMOSD treatments (ANTs). This study aimed to determine real-world rituximab failure rates to anticipate the demand for ANTs and aid in resource allocation. Methods: We conducted a nationwide retrospective study involving 605 aquaporin-4-antibody-positive NMOSD patients from 22 centers in South Korea that assessed the efficacy and safety of rituximab over a median follow-up of 47 months. Results: The 605 patients treated with rituximab included 525 (87%) who received continuous therapy throughout the follow-up period (median=47 months, interquartile range=15–87 months). During this period, 117 patients (19%) experienced at least 1 relapse. Notably, 68 of these patients (11% of the total cohort) experienced multiple relapses or at least 1 severe relapse.Additionally, 2% of the patients discontinued rituximab due to adverse events, which included severe infusion reactions, neutropenia, and infections. Conclusions This study has confirmed the efficacy of rituximab in treating NMOSD, as evidenced by an 87% continuation rate among patients over a 4-year follow-up period. Nevertheless, the occurrence of at least one relapse in 19% of the cohort, including 11% who experienced multiple or severe relapses, and a 2% discontinuation rate due to adverse events highlight the urgent need for alternative therapeutic options.

Paramyotonia congenita (PMC) is characterized by nondystrophic myotonia aggravated by exercise and cold exposure. SCN4A mutations manifest as various phenotypes of channelopathy, including PMC, myotonia congenita, and periodic paralysis. SCN4A-related channelopathy is characterized by autosomal dominant inheritance. Parental gonadal mosaicism is suspected in cases of recurrent de novo mutation in an autosomal dominantly inherited disease. We report a case of two Korean brothers presenting with PMC due to same de novo SCN4A point mutation, probably due to parental gonadal mosaicism.

Purpose: BRCA1/2 mutations are well-known risk factors for breast and ovarian cancers in women. Risk-reducing salpingo-oophorectomy (RRSO) is the standard treatment for preventing ovarian cancer with BRCA mutations. Postmenopausal syndrome (symptoms after RRSO can be alleviated by hormone replacement therapy (HRT); however, the use of HRT in carriers of BRCA mutations has been controversial because of the concern that HRT increases the risk of breast cancer. This study aimed to evaluate the effects of HRT in BRCA mutation carriers who underwent RRSO. Materials and Methods: A total of 151 carriers, who underwent RRSO between 2013 and 2020 after the diagnosis of BRCA1 or BRCA2 mutations were selected and followed up for a median of 3.03 years. Patients were divided into two groups: those who received HRT after RRSO (n=33) and those who did not (n=118). We compared the incidence of breast cancer over time between these two groups. Results: There was no significant difference in the incidence of breast cancer between women who received HRT and those who did not (p=0.229). Multivariate logistic regression analysis, adjusted for age and parity revealed no significant difference in the risk of breast cancer between these two groups (hazard ratio, 0.312; 95% confidence interval, 0.039 to 2.480; p=0.278). Conclusion In this study, we found no relationship between post-RRSO HRT and breast cancer in the population with BRCA mutations. Therefore, healthcare providers may consider the alleviation of symptoms of postmenopausal syndrome through HRT in patients who underwent RRSO.

OBJECTIVES: This study examined the effectiveness of community-based interventions designed for older adults living alone through a systematic review and meta-analysis. METHODS: The study incorporated 4 randomized controlled trials (RCTs) and 5 non-RCTs to evaluate various interventions. The methodological quality of these studies was assessed using the Downs and Black checklist, while Q-statistic and I-square tests were performed to examine statistical heterogeneity. Additionally, visual inspection of funnel plots and the trim-and-fill method were employed to investigate potential publication bias. Of the 2,729 identified studies, 9 met the criteria for inclusion in this review. Independent variables were categorized into 5 groups (physical activity, nutrition, social relationships, social participation, and combined intervention) to examine their effects. Dependent variables were similarly classified into 5 subgroups to identify the specific effects of the interventions. RESULTS: Interventions focusing on nutrition and combined approaches were the most effective, yielding effect sizes of 0.96 (95% confidence interval [CI], 0.66 to 1.25) and 0.43 (95% CI, 0.26 to 0.60), respectively. The interventions had the greatest impacts on the health behavior and mental health of the participants, with effect sizes of 0.98 (95% CI, 0.73 to 1.22) for health behavior and 0.67 (95% CI, 0.19 to 1.16) for mental health. CONCLUSIONS This study suggests a direction for the development of community-based interventions tailored to the needs of older adults living alone. Additionally, it provides evidence to inform policy decisions concerning this demographic.

Background: During the coronavirus disease 2019 (COVID-19) pandemic, patients with myasthenia gravis (MG) were more susceptible to poor outcomes owing to respiratory muscle weakness and immunotherapy. Several studies conducted in the early stages of the COVID-19 pandemic reported higher mortality in patients with MG compared to the general population. This study aimed to investigate the clinical course and prognosis of COVID-19 in patients with MG and to compare these parameters between vaccinated and unvaccinated patients in South Korea. Methods: This multicenter, retrospective study, which was conducted at 14 tertiary hospitals in South Korea, reviewed the medical records and identified MG patients who contracted COVID-19 between February 2022 and April 2022. The demographic and clinical characteristics associated with MG and vaccination status were collected. The clinical outcomes of COVID-19 infection and MG were investigated and compared between the vaccinated and unvaccinated patients. Results: Ninety-two patients with MG contracted COVID-19 during the study. Nine (9.8%) patients required hospitalization, 4 (4.3%) of whom were admitted to the intensive care unit. Seventy-five of 92 patients were vaccinated before contracting COVID-19 infection, and 17 were not. During the COVID-19 infection, 6 of 17 (35.3%) unvaccinated patients were hospitalized, whereas 3 of 75 (4.0%) vaccinated patients were hospitalized (P < 0.001). The frequencies of ICU admission and mechanical ventilation were significantly lower in the vaccinated patients than in the unvaccinated patients (P = 0.019 and P = 0.032, respectively). The rate of MG deterioration was significantly lower in the vaccinated patients than in the unvaccinated patients (P = 0.041). Logistic regression after weighting revealed that the risk of hospitalization and MG deterioration after COVID-19 infection was significantly lower in the vaccinated patients than in the unvaccinated patients. Conclusion This study suggests that the clinical course and prognosis of patients with MG who contracted COVID-19 during the dominance of the omicron variant of COVID-19 may be milder than those at the early phase of the COVID-19 pandemic when vaccination was unavailable. Vaccination may reduce the morbidity of COVID-19 in patients with MG and effectively prevent MG deterioration induced by COVID-19 infection.

Methylene-tetrahydrofolate reductase (MTHFR) is a homocysteine metabolism-related enzyme and defects of MTHFR is a risk factor for hyperhomocysteinemia and related various neurological disease. Among them, 665C>T polymorphism is the most common form. We report a 48 years old man presenting with progressive psychiatric problems along with severe demyelinating polyneuropathy due to homozygous c.665C>T homozygote polymorphism superimposed by compound heterozygous mutation (c.1417C>T, p.Arg473Trp) in the MTHFR gene, without thromboembolic changes.

Background: Prader-Willi Syndrome (PWS) is a rare genetic disorder. To improve the health deterioration of PWS, investigating optimal treatment options for PWS is required. Thus, we aimed to evaluate the efficacy of pharmacotherapies compared with supportive care or placebos in patients with PWS. Methods: PubMed and EMBASE databases were used to search for randomized controlled trials (RCTs) evaluating the efficacy of pharmacotherapy in PWS patients. Only RCTs that evaluating the efficacy of pharmacotherapy in PWS patients were retrieved. Results: A total of 26 studies were included to evaluate body composition, hormones, glucose levels and hyperphagia behavioral status. Pharmacological treatment group showed a significant decrease of body fat (mean difference (MD): -6.32, 95% confidence interval (CI): -10.58 to -2.06, p=0.004), a significant increase of lean body mass (LBM) (MD: 1.86, 95% CI: 1.43 to 2.30, p<0.00001) and insulin-like growth factor 1 (IGF-1) levels (MD: 241.62, 95% CI: 68.59 to 414.64, p=0.006) compared with the control group. Nevertheless, based on other outcomes evaluated by the current systematic review, pharmacological options showed different efficacy in treating PWS. Conclusion Pharmacological therapies were effective to decrease significantly in body fat and increase significantly on LBM and IGF-1 levels in patients with PWS. However, still, individualized therapies should be considered in real-world practice in PWS treatment.