Single-cell omics technologies have transformed our investigation of genomic, transcriptomic, and proteomic landscapes at the individual cell level. In particular, the application of single-cell RNA sequencing has unveiled the complex transcriptional variations inherent in cardiac cells, offering valuable perspectives into their dynamics. This review focuses on the integration of single-cell omics with induced pluripotent stem cells (iPSCs) in the context of cardiovascular research, offering a unique avenue to deepen our understanding of cardiac biology. By synthesizing insights from various single-cell technologies, we aim to elucidate the molecular intricacies of heart health and diseases. Beyond current methodologies, we explore the potential of emerging paradigms such as single-cell/spatial omics, delving into their capacity to reveal the spatial organization of cellular components within cardiac tissues. Furthermore, we anticipate their transformative role in shaping the future of cardiovascular research. This review aims to contribute to the advancement of knowledge in the field, offering a comprehensive perspective on the synergistic potential of transcriptomic analyses, iPSC applications, and the evolving frontier of spatial omics.

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: This study surveyed pharmacists registered with the Yamaguchi Prefectural Pharmacists Association to determine the key elements of tablet printing design that enhance visibility and distinguishability during dispensing.Objectives: The purpose of this study is to identify suitable design components for tablets that enhance visibility and distinguishability by utilizing text data.Methods: Given the high risk of medication errors due to similar-looking tablets, the study employed KH Coder for text mining analysis of free-text responses.Results: Results indicated that design elements such as "horizontal writing," "straight lines, " and "emphasis on characters" significantly improve visibility and distinguishability, particularly for similar-looking tablets. The findings from this study provide specific guidelines for optimal tablet design, aiming to improve pharmacists' efficiency and enhance medication safety.Conclusions: KH Coder proved to be a valuable tool for analyzing qualitative data in the medical field. While the study focused on pharmacists in Yamaguchi Prefecture, expanding the survey to a national scale is recommended to validate and generalize the findings. This research supports the development of standardized tablet designs that can minimize dispensing errors and ensure patient safety, highlighting the importance of effective tablet printing design in pharmaceutical practice.

Single-cell omics technologies have transformed our investigation of genomic, transcriptomic, and proteomic landscapes at the individual cell level. In particular, the application of single-cell RNA sequencing has unveiled the complex transcriptional variations inherent in cardiac cells, offering valuable perspectives into their dynamics. This review focuses on the integration of single-cell omics with induced pluripotent stem cells (iPSCs) in the context of cardiovascular research, offering a unique avenue to deepen our understanding of cardiac biology. By synthesizing insights from various single-cell technologies, we aim to elucidate the molecular intricacies of heart health and diseases. Beyond current methodologies, we explore the potential of emerging paradigms such as single-cell/spatial omics, delving into their capacity to reveal the spatial organization of cellular components within cardiac tissues. Furthermore, we anticipate their transformative role in shaping the future of cardiovascular research. This review aims to contribute to the advancement of knowledge in the field, offering a comprehensive perspective on the synergistic potential of transcriptomic analyses, iPSC applications, and the evolving frontier of spatial omics.

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.

Single-cell omics technologies have transformed our investigation of genomic, transcriptomic, and proteomic landscapes at the individual cell level. In particular, the application of single-cell RNA sequencing has unveiled the complex transcriptional variations inherent in cardiac cells, offering valuable perspectives into their dynamics. This review focuses on the integration of single-cell omics with induced pluripotent stem cells (iPSCs) in the context of cardiovascular research, offering a unique avenue to deepen our understanding of cardiac biology. By synthesizing insights from various single-cell technologies, we aim to elucidate the molecular intricacies of heart health and diseases. Beyond current methodologies, we explore the potential of emerging paradigms such as single-cell/spatial omics, delving into their capacity to reveal the spatial organization of cellular components within cardiac tissues. Furthermore, we anticipate their transformative role in shaping the future of cardiovascular research. This review aims to contribute to the advancement of knowledge in the field, offering a comprehensive perspective on the synergistic potential of transcriptomic analyses, iPSC applications, and the evolving frontier of spatial omics.

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 The decline of physical activity in the elderly due to aging may increase the risk of sarcopenia. Currently, there is a lack of evidence from large natural populations on the relationship between PA and sarcopenia. Objective To explore the relationship between PA and sarcopenia in the elderly aged 60 years and above in 10 provinces (autonomous regions) of China. Methods Data were retrieved from the 2022—2023 round of the China Development and Nutrition Health Impact Cohort. Personal basic information and PA data were collected by questionnaire survey. Skeletal muscle mass was measured by bio-electrical impedance analysis, muscle strength was measured using a grip dynamometer, and physical performance was reflected by 6-meter walk speed. The Asian Working Group for Sarcopenia (AWGS) 2019 criteria were used to diagnose sarcopenia. Light physical activity (LPA) duration, moderate-to-vigorous physical activity (MVPA) duration, and total physical activity volume were calculated. A total of 3326 residents aged ≥60 years with complete data were selected as the survey participants. Multiple logistic regression models and restricted cubic splines (RCS) were used to assess the association between PA duration/volume and sarcopenia. Results In 10 provinces (autonomous regions) of China, the prevalence of sarcopenia in the elderly aged 60 years and above was 5.5% (95%CI: 4.7%, 6.2%). The logistic regression analysis showed that compared with the elderly reporting 0-7.0 h·week⁻¹ in LPA duration, the risk of sarcopenia in the elderly with LPA duration of >14.0-21.0 h·week⁻¹ was reduced by 51% (OR=0.49, 95%CI: 0.26, 0.96). Compared with the elderly with total physical activity ≥15.0 metabolic equivalent of task (MET)-h·week⁻¹, those with <7.5 MET-h·week⁻¹ had a 2.24-fold increased risk of sarcopenia (OR=2.24, 95%CI: 1.17, 4.29). The RCS results found that LPA duration and total physical activity volume each showed a nonlinear dose-response relationship with the risk of sarcopenia (P_overall<0.05, P_non-linear<0.05). Compared with the elderly with an LPA duration of 0 h· week⁻¹, the risk of sarcopenia in the elderly with an LPA duration of 12.6 h· week⁻¹ was the lowest (OR=0.42, 95%CI: 0.21, 0.83). Compared with the elderly with a total physical activity volume of 15.0 MET-h· week⁻¹, the elderly with a total physical activity volume of 46.0 MET-h· week⁻¹ had the lowest risk of sarcopenia (OR=0.57, 95%CI: 0.38, 0.84). There was no statistically significant association between weekly MVPA duration and the risk of sarcopenia (P>0.05). Conclusion Increasing weekly LPA duration and total physical activity volume would help to reduce the risk of sarcopenia.

Thymocyte selection-associated high mobility group box (TOX), a member of the high mobility group protein super-family, plays an important role in T cell development, functional maintenance, and exhaustion. It has been recently found that TOX exerts critical immunoregulatory functions during pathogen infections, and TOX expression is strongly associated with the intensity and tolerance of host immune responses. This review systematically summarizes the structural and functional features of TOX and focuses on its expression dynamics, mechanisms of action, and immunomodulatory effects during viral, bacterial, and parasitic infections, which provides a theoretical support to better understanding of the role of TOX in infectious diseases and provides new insights into development of potential immunotherapeutic strategies targeting TOX.

Objective : To explore the role and mechanism of plasmalemma vesicle-associated protein(PLVAP) in the progression of hepatocellular carcinoma(HCC). Methods : Bioinformatic analysis, quantitative real-time PCR, Western blot and immunohistochemistry were used to analyze the expression level of PLVAP in HCC and paracancerous tissues, and its correlation with clinicopathological characteristics. Stable HCC cell lines with knockdown and overexpression of PLVAP were constructed, then cell proliferation, migration and invasion of HCC cells were examined by CCK-8, foci formation assays, wound-healing assays and Transwell assays. Western blot was used to detect the protein levels of phosphatidylinositol 3-kinase PI3K, phosphorylated phosphatidylinositol 3-kinase p-PI3K, protein kinase B AKT and phosphorylated protein kinase B p-AKT in the PI3K/AKT pathway after PLVAP knockdown and overexpression. Cell proliferation, migration and invasion were also examined in PLVAP-overexpressed cells after treatment of LY294002, an inhibitor of the PI3K/AKT pathway. Results : The expression of PLVAP was significantly higher in HCC tissues than that in adjacent non-tumor tissues(P<0.05), and was positive correlated with tumor stage, T stage, M stage, and microvascular invasion(P<0.05). Knockdown of PLVAP significantly reduced the proliferation, migration and invasion of HCC cells(P<0.001), while overexpression of PLVAP significantly increased the proliferation, migration and invasion of HCC cells(P<0.01). Western blot analysis revealed that knockdown of PLVAP decreased the protein expression levels of p-PI3K and p-AKT, overexpression of PLVAP increased the protein expression levels of p-PI3K and p-AKT, whereas the PI3K/AKT inhibitor LY294002 eliminated the effects of PLVAP on cell proliferation, migration and invasion(P<0.01). Conclusion PLVAP is highly expressed in HCC and may promote HCC progression by activating the PI3K/AKT signaling pathway.