Shiga University of Medical Science Repository BI WAKO / 滋賀医科大学機関リポジトリ
Not a member yet
4781 research outputs found
Sort by
Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome.
No full textAims:
Gain-of-function mutations in RYR2, encoding the cardiac ryanodine receptor channel (RyR2), cause catecholaminergic polymorphic ventricular tachycardia (CPVT). Whereas, genotype-phenotype correlations of loss-of-function mutations remains unknown, due to a small number of analysed mutations. In this study, we aimed to investigate their genotype-phenotype correlations in patients with loss-of-function RYR2 mutations.Methods and results:
We performed targeted gene sequencing for 710 probands younger than 16-year-old with inherited primary arrhythmia syndromes (IPAS). RYR2 mutations were identified in 63 probands, and 3 probands displayed clinical features different from CPVT. A proband with p.E4146D developed ventricular fibrillation (VF) and QT prolongation whereas that with p.S4168P showed QT prolongation and bradycardia. Another proband with p.S4938F showed short-coupled variant of torsade de pointes (scTdP). To evaluate the functional alterations in these three mutant RyR2s and p.K4594Q previously reported in a long QT syndrome (LQTS), we measured Ca2+ signals in HEK293 cells and HL-1 cardiomyocytes as well as Ca2+-dependent [3H]ryanodine binding. All mutant RyR2s demonstrated a reduced Ca2+ release, an increased endoplasmic reticulum Ca2+, and a reduced [3H]ryanodine binding, indicating loss-of-functions. In HL-1 cells, the exogenous expression of S4168P and K4594Q reduced amplitude of Ca2+ transients without inducing Ca2+ waves, whereas that of E4146D and S4938F evoked frequent localized Ca2+ waves.Conclusion:
Loss-of-function RYR2 mutations may be implicated in various types of arrhythmias including LQTS, VF, and scTdP, depending on alteration of the channel activity. Search of RYR2 mutations in IPAS patients clinically different from CPVT will be a useful strategy to effectively discover loss-of-function RYR2 mutations.Journal Articlejournal articl
A case of massive bleeding after endoscopic sphincterotomy in a patient with a history of large walled-off pancreatic necrosis in the area of the pancreatic groove.
No full textJournal Articlejournal articl
Nardilysin in adipocytes regulates UCP1 expression and body temperature homeostasis.（最新研究の紹介）
Get PDFpdfOthersScientific Reports 2022; 12: 3449.
DOI: 10.1038/s41598-022-07379-xothe
Metabolic changes induced by dapagliflozin, an SGLT2 inhibitor, in Japanese patients with type 2 diabetes treated by oral anti-diabetic agents: A randomized, clinical trial.
Get PDFpdfAim:
We aimed to determine whether SGLT2 inhibitor dapagliflozin treatment affects body composition and amino acid (AA) metabolism.Methods:
Fifty-two overweight patients treated by oral antidiabetic agents were randomly assigned to dapagliflozin (Dapa) or a standard treatment (Con) and followed for 24 weeks. The primary outcome was the change in body mass (BM) between baseline and week 24. Body composition, intrahepatic triglyceride (IHTG) content, and plasma AA concentrations were examined as secondary outcomes.Results:
The change in BM was significantly larger in the Dapa than in the Con group, with a difference in the mean change of -1.72 kg (95 %CI: -2.85, -0.59; P = 0.004) between the groups. Total fat mass was reduced by dapagliflozin treatment, but fat-free mass was maintained. IHTG content was significantly reduced in the Dapa than in the Con (P = 0.033). Changes in AAs showed small differences between the groups, but only serine concentrations were significantly reduced in the Dapa. Intra-group analysis showed that positive associations were observed between changes in branched chain AA concentrations and body composition only in the Dapa.Conclusions:
Dapagliflozin treatment causes a reduction in BM mainly by reducing fat mass. AA metabolism shows subtle changes with dapagliflozin treatment.Journal Articlejournal articl
Changes in high school students’ perception of sexual education based on preconception care
Get PDFpdfThis study examined the effect of sexual education, incorporating preconception care, through a text mining analysis. Between November 2018 and October 2019, we performed a cross-sectional study of 502 high school students in Japan. These two high schools had requested sexual education from midwives associated with Shiga University of Medical Science. The midwives conducted one 60–90-min presentation on sexual education at each school. After the intervention, an anonymous self-administered, paper-based questionnaire survey was administered to the students. Correspondence and cluster analyses were then performed using text mining software. After receiving sexual education taught by midwives, 50.1% of respondents answered that their sexual awareness and thoughts had ‘changed’ or ‘changed somewhat’. It became clear that students who felt that they had changed after taking sexual education also felt that it was important to think seriously about various things such as dating violence, sex, and life. On the other hand, among the students who answered that they did not experience any change in their sexual awareness and thinking, it became clear that this was owing to the content of the sexual education received at junior high school being similar to the current content (p < 0.05). The results of the correspondence and cluster analyses indicate that sexual education that includes instruction on preconception care can help raise students’ awareness, helping avoid unexpected pregnancies, and could possibly contribute to better reproductive health for both men and women (p < 0.05). The findings suggest that teaching preconception care is an important midwifery activity that will help improve the health of the next generation, including supporting the World Health Organization’s major goals of reducing perinatal and infant mortality rates.Journal Articlejournal articl
Malignant Progression of Diffuse Low-grade Gliomas : A Systematic Review and Meta-analysis on Incidence and Related Factors.
Get PDFpdfMalignant progression of diffuse low-grade glioma (LGG) is a critical event affecting patient survival; however, the incidence and related factors have been inconsistent in literature. According to the PRISMA guidelines, we systematically reviewed articles from 2009, meta-analyzed the incidence of malignant progression, and clarified factors related to the transformation. Forty-one articles were included in this study (n = 7,122; n, number of patients). We identified two definitions of malignant progression: histologically proven (Htrans) and clinically defined (Ctrans). The malignant progression rate curves of Htrans and Ctrans were almost in parallel when constructed from the results of meta-regression by the mean follow-up time. The true transformation rate was supposed to lie between the two curves, approximately 40% at the 10-year mean follow-up. Risk of malignant progression was evaluated using hazard ratio (HR). Pooled HRs were significantly higher in tumors with a larger pre- and postoperative tumor volume, lower degree of resection, and notable preoperative contrast enhancement on magnetic resonance imaging than in others. Oligodendroglial histology and IDH mutation (IDHm) with 1p/19q codeletion (Codel) also significantly reduced the HRs. Using Kaplan-Meier curves from eight studies with molecular data, we extracted data and calculated the 10-year malignant progression-free survival (10yMPFS). The 10yMPFS in patients with IDHm without Codel was 30.4% (95% confidence interval [95% CI]: 22.2-39.0) in Htrans and 38.3% (95% CI: 32.3-44.3) in Ctrans, and that with IDHm with Codel was 71.7% (95% CI: 61.7-79.5) in Htrans and 62.5% (95% CI: 55.9-68.5) in Ctrans. The effect of adjuvant radiotherapy or chemotherapy could not be determined.Journal Articlejournal articl
Squamous Cell Carcinoma at the Site of Cutaneous Lymphoid Hyperplasia
Get PDFpdfJournal Articlejournal articl
Adverse impact of postoperative intra-abdominal infectious complications on cancer recurrence-related survival after curative gastric cancer surgery.
Get PDFpdfBackground:
This study aimed to evaluate the impact of postoperative intra-abdominal infectious complications (PICs) on survival after surgery for gastric cancer.Methods:
A total of 152 patients who underwent curative gastrectomy for gastric cancer were included. The effect of clinicopathological features and PICs on recurrence-free survival (RFS) and overall survival (OS) were investigated.Results:
The median age was 67 years. The pathological stage was stage I (61), II (40), and III (51). Thirty-two patients (21.1%) had PICs: 9, pancreatic fistula; 14, anastomotic leakage; and 17, intra-abdominal abscess. The five-year RFS and OS rates were significantly lower in patients with PICs than in those without PICs (63.4 vs. 85.6%; p < 0.01 and 56.4 vs. 80.3%; p < 0.01, respectively). In multivariate analysis, intraoperative blood loss was an independent prognostic factor for PICs.Conclusions:
Patients with PICs had worse clinical outcomes. Reducing intraoperative bleeding may improve the prognosis of gastric cancer.Journal Articlejournal articl
The association of reproductive history with hypertension and obesity according to menopausal status: the J-MICC Study
Get PDF滋賀医科大学博士（医学）pdfThesis or DissertationHypertension research. 2022 Apr;45(4):708-714.令和3年度thesi
Differences in the Central Energy Metabolism of Cancer Cells between Conventional 2D and Novel 3D Culture Systems
Get PDF滋賀医科大学博士（医学）pdfThesis or DissertationInternational journal of molecular sciences.. 2021 Feb 11;22(4):1805.令和3年度thesi