Japan Medical Association

Background and ObjectivesGenetic literacy is important for the development and implementation of novel therapies for inherited neurodegenerative diseases such as spinal and bulbar muscular atrophy (SBMA). However, genetic literacy has not been well studied in this patient population. This study sought to examine the genetic literacy and awareness of patients with SBMA across different cultural backgrounds using a survey.MethodsThe questions used in the survey were developed in collaboration with the Japanese and 2 international SBMA patient organizations. Questionnaires were sent by post or electronically to patients with SBMA. Participants were queried about their knowledge of genetics, sharing of genetic information, genetic testing for at-risk individuals, genetic counseling, assisted reproductive technology, and other topics. We analyzed patients by dividing them into 3 groups: Japan group, Americas and Europe group, and Asia-Oceania (excluding Japan) group.ResultsA total of 304 and 336 questionnaires were received from Japan and from other countries, respectively, with an overall valid response rate of 45.0% (628/1,395). Across all groups, around 30–40% of patients had high genetic literacy. In the Japan and Asia-Oceania groups, patients were less likely to share genetic information with family members than those in the Americas and Europe group (p < 0.05). Japanese patients were also less proactive in pursuing genetic testing for at-risk male and female carriers than those in other groups (p < 0.05). Patients with high genetic literacy were significantly younger than those in the low literacy group (57.6 ± 9.5 years vs 62.5 ± 10.6 years; p < 0.001) and were more willing to share disease information with their families, as well as participate in clinical research on patients with SBMA in Japan.DiscussionIn this international survey of patients with SBMA, willingness to share genetic information with and to recommend presymptomatic genetic testing to family members varied across cultural backgrounds and was also associated with levels of genetic literacy.

AimWith the rapid increase of aging societies worldwide, ensuring road safety among older adults has become a critical public health concern. This study aimed to assess driving risks among community‐dwelling older adults with mild cognitive impairment (MCI).MethodsA total of 387 participants aged 65 years and older were recruited from Akita Prefecture, Japan. Physical functions, such as walking speed and grip strength, cognitive functions, and depressive symptoms were evaluated alongside driving behaviors. Participants were classified into MCI‐positive and MCI‐negative groups based on cognitive assessments.ResultsThe results demonstrated significant differences in driving risk, physical performance, and cognitive abilities between the two groups. MCI‐positive individuals exhibited higher driving risks and poorer functional performance. Receiver operating characteristic (ROC) curve analysis identified a cutoff score of 5.5 on the Driving Risk Checklist‐25 (DRCL‐25), with a sensitivity of 45.5% and specificity of 89.7% for identifying MCI.ConclusionsThese findings underscore the importance of integrating physical and cognitive assessments to enhance the accuracy of driving risk evaluations. The DRCL‐25 shows promise as a detection tool for MCI, facilitating the development of interventions aimed at maintaining mobility and improving road safety among older drivers. Future research should focus on refining the checklist and evaluating its applicability across diverse populations and settings. Geriatr Gerontol Int 2025; 25: 1194–1199.

Background and objectives In recent years, the number of emergency transports for older patients has significantly increased, raising concerns about the strain on emergency medical services. This study aimed to assess whether the use of hospital ambulances can enhance collaboration between home medical care and hospitals while reducing the reliance on fire department ambulances for interhospital transfers. Methods This retrospective observational study analyzed 3,983 hospital ambulance dispatches from December 1, 2014, to March 31, 2024. We examined the annual dispatch volume, reasons for dispatch requests, types of transportation, and receiving medical institutions. We then compared the acceptance of ambulance transport and the frequency of interhospital transfers performed by hospital ambulances versus fire department ambulances at chronic care hospitals within the city. Results The number of ambulance calls increased annually until 2020 but began to decline in 2021 following the introduction of restrictions on transporting patients with COVID-19. Fractures and orthopedic disorders were the most common reasons for calls (1,040 cases, 26.1%). Interhospital transfer was the most frequent type of transport (1,514 cases, 38.0%), followed by transport from home to the hospital (1,096 cases, 27.5%). Overall, 2,179 patients (54.7%)were transferred to chronic care hospitals, with 3,752 (94.2%) remaining within the city. Regarding the number of ambulances accepted by chronic care hospitals and interhospital transfers, an increase in hospital ambulance utilization and a decrease in fire department ambulance utilization were observed until 2021 and 2020, respectively; however, these trends reversed thereafter. Conclusion The use of hospital ambulances facilitates patient transfers to chronic care hospitals and alleviates the burden on fire department ambulances, particularly for interhospital transfers. Hospital ambulances could serve as pivotal tools for reinforcing community-based care while optimizing the use of limited emergency resources.

Autism spectrum disorders are associated with an imbalance of immune and neurological disorders, starting after the age of two. The study is devoted to studying the role of specialized strains of bacteria Lactobacillus reuteri, which mediate the synthesis of oxytocin in humans and influence inflammation indicators. Bacteria of this strain were part of the biologically active additive “Panbiolact Mental”, developed and presented by NPO ArtLife (Tomsk). The purpose of the work was to assess the effect of specialized strains of bacteria Lactobacillus reuteri on changes in the composition of the intestinal microbiota, oxytocin levels, and immune parameters of children with ASD. The study included 43 children with autism spectrum disorders who took Panbiolact Mental for 90 days. The study materials included venous blood samples and fecal samples. The concentrations of cytokines (IL-4, IL-10, TNF, IFN), immunoglobulins (IgE, IgG, IgA, IgM) and the neuropeptide oxytocin were determined in the blood serum. Fecal samples were used to assess the qualitative and quantitative composition of the colon microbiota. Clinical symptoms of the disease associated with quality of life were assessed using the standard ATEC test scale (Autism Treatment Evaluation Checklist), expressed in scores corresponding to the severity of clinical and neurological parameters of the disease. In children with autism spectrum disorders, after 90 days of regular use of Panbiolact Mental, the number of bacteria of the genera Acinetobacter decreased, the number of Bacteroides species pluralis, Akkermansia muciniphila, Eubacterium rectale, Prevotella species pluralis and Methanobrevibacter smithii increased. Increases in the concentration of oxytocin, the protolerogenic coefficient IL-10/TNFα, immunoglobulins M and G, and a decrease in the concentrations of TNFα and IL-10 were recorded. The results of the study support the hypothesis of a significant role of gut microbiota diversity in the neuro-immune pathogenesis of autism spectrum disorders. “Panbiolact Mental” is presented as a potentially effective remedy for an integrated approach to the correction of ASD in children. These data may form the basis for further research in the field of probiotic therapy, as well as for the development of new strategies based on modulation of the intestinal microbiota.

Gastric cancer (GC) is characterized by significant intratumoral heterogeneity, and stem cells are promising therapeutic targets. Despite advancements in spatial transcriptome analyses, unexplored targets for addressing cancer stemness remain unknown. This study aimed to identify Nuclear Factor IX (NFIX) as a critical regulator of cancer stemness in GC and evaluate its clinicopathological significance and function. Spatial transcriptome analysis of GC was conducted. The correlation between NFIX expression, clinicopathological factors, and prognosis was assessed using immunostaining in 127 GC cases. Functional analyses of cancer cell lines validated these findings. Spatial transcriptome analysis stratified GC tissues based on genetic profiles, identified CSC‐like cells, and further refined the classification to identify and highlight the significance of NFIX, as validated by Monocle 3 and CytoTRACE analyses. Knockdown experiments in cancer cell lines have demonstrated the involvement of NFIX in cancer cell proliferation and kinase activity. This study underscores the role of spatial transcriptome analysis in refining GC tissue classification and identifying therapeutic targets, highlighting NFIX as a pivotal factor. NFIX expression is correlated with poor prognosis and drives GC progression, suggesting its potential as a novel therapeutic target for personalized GC therapies.

We developed a novel 3D generative Artificial Intelligence (AI) method for performing Electronic Cleansing (EC) in CT Colonography (CTC). In the method, a 3D transformer based UNet is used as a generator to map an uncleansed CTC image volume directly into a virtually cleansed CTC image volume. A 3D-PatchGAN is used as a discriminator to provide feedback to the generator to improve the quality of the EC images generated by the 3D transformer-based UNet. The EC method was trained by use of the CTC image volumes of an anthropomorphic phantom that was filled partially with a mixture of foodstuff and an iodinated contrast agent. The CTC image volume of the corresponding empty phantom was used as the reference standard. The quality of the EC images was tested visually with six clinical CTC test cases and quantitatively based on a phantom test set of 100 unseen sample image volumes. The image quality of EC was compared with that of a previous 3D GAN-based EC method. Our preliminary results indicate that the 3D generative AI-based EC method outperforms our previous 3D GAN-based EC method and thus can provide an effective EC method for CTC.