To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes.

The pathogenesis of Parkinson's disease is closely related to genetic factors. This article has systematically reviewed the research progress of molecular genetic mechanism on Parkinson's disease by focusing on the role of six high-penetrance pathogenic genes (SNCA, LRRK2, PRKN, PINK1, PARK7, and VPS35) and some risk genes (such as GBA1). These genetic variants eventually converge in three core pathogenic biological pathways, including lysosomal-autophagy pathway disorder, mitochondrial quality control disorder and α-synuclein metabolic abnormality. In-depth understanding of these molecular mechanisms is of great significance for the development of targeted therapy and realization of precision medicine for this disease.
Humans ; Parkinson Disease/metabolism* ; alpha-Synuclein/genetics* ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/genetics* ; Genetic Predisposition to Disease ; Protein Kinases/genetics* ; Animals ; Glucosylceramidase/genetics* ; Ubiquitin-Protein Ligases/genetics*

With the rising incidence of colon cancer, several studies have indicated that aquaporin 1 (AQP1) expression is associated with the development of colon cancer. This study aims to elucidate the potential molecular mechanisms between them. Methods: We screened data from The Cancer Genome Atlas (TCGA) database and retrospectively examined AQP1 protein expression in 127 colon cancer patients to analyze the relationship between AQP1 expression and pathological stages, prognosis. We created stable colon cancer cell lines with differential AQP1 expression, the effect of AQP1 expression on the proliferation and migration of colon cancer cells was assessed by in vitro and in vivo studies, and explored potential molecular mechanisms through Western blotting. Results: High AQP1 expression was associated with poorer survival (overall survival [OS], p = .028) in colon cancer patients from the TCGA database. Similarly, retrospective clinical data indicated that high AQP1 expression was associated with reduced disease-free survival and OS (p = .036 and p = .017, respectively). The low-expressing AQP1 colon cancer cells exhibited a decrease in proliferation and migration ability of colon cancer cells compared to the overexpressing AQP1 group (p < .05) in vitro and in vivo. Immunohistochemistry and western blotting experiments validated heightened expression of N-cadherin, vimentin, and claudin- 1 in the tumor tissues of the overexpressing AQP1 group. Conversely, reduced AQP1 expression resulted in decreased expression of claudin- 1. Conclusions: AQP1 correlates with unfavorable prognosis in colon cancer and potentially enhances the proliferation and migration of colon cancer by up-regulating claudin-1 expression.

Aortic dissection is a serious cardiovascular disease characterized by acute onset and high mortality rates. Although advancements in surgical techniques and anesthesia methods have significantly reduced surgical mortality, postoperative complications, particularly pulmonary complications, remain a challenge for the recovery of patients with aortic dissection. Existing studies indicate that respiratory rehabilitation plays a crucial role in preventing and alleviating postoperative pulmonary complications, and its application is gradually expanding. However, current understanding of respiratory rehabilitation treatment for patients with aortic dissection is still insufficient, and there is a lack of standardized protocols in clinical practice. This article aims to review the existing research evidence, comprehensively analyze common pulmonary complications after aortic dissection surgery, their pathogenesis, the latest advancements in perioperative respiratory rehabilitation, and the main challenges faced, in order to provide references for clinical practice and future research.

The Medical Cases of WU Jutong （《吴鞠通医案》） proposes the principle of "treating all Bi （痹） diseases through taiyin"， which forms the basis for analyzing WU Jutong's understanding of the causes， mechanisms， and treatments of Bi （痹） diseases， providing a reference for clinical diagnosis and treatment. Through an interpretation of the phrase "treating all Bi （痹） diseases through taiyin"， it is suggested that Bi （痹） diseases is primarily caused by dampness， necessitating a focus on spleen and lung in treatment. WU emphasized four main causes of Bi （痹） diseases （wind， cold， dampness， and heat）， with dampness being the predominant factor. The disease location is initially in lung， for which external dampness invades lung first， and internal dampness obstructs the source of water metabolism， impeding lung qi and qi failing to disperse， then dampness further accumulates in the joints， leading to Bi （痹） diseases. WU Jutong proposed the modified Mufangji Decoction （木防己汤） as the foundational prescription for treating Bi （痹） diseases. By comparing the similarities and differences between the modified and original Mufangji Decoction， and analyzing the adjustments in herbal prescriptions， the clinical characteristic of "treating all Bi （痹） diseases through taiyin" is further substantiated.

Objective:To evaluate the clinical predictive value of SPECT myocardial perfusion imaging (MPI) in the occurrence of cardiac death in patients with chronic kidney disease (CKD).Methods:A retrospective follow-up was performed for 160 patients (109 males, 51 females; age: 68.5(61.0, 74.0) years) who underwent MPI in Beijing Anzhen Hospital, Capital Medical University between June 2017 and March 2024. The 17-segment 5-point method was used for image analysis to obtain the left ventricular myocardial perfusion and functional parameters. The patients were followed up for cardiac death, and divided into death group and survival group. Clinical data of those 2 groups were compare by χ2 test, the independent-sample t test or Mann-Whitney U test. Cox proportional hazards regression analysis was used to analyze the predictors related to cardiac death. The ROC curve was used to analyze the performance of predictors. Survival curves were obtained by the Kaplan-Meier method, and log-rank test was performed to compare the difference between 2 groups. Results:The follow-up time of 160 patients with CKD was 26.0(10.0, 46.5) months. Of 160 patients, 17 died and 143 survived. There were statistically significant differences in body mass index (BMI), previous myocardial infarction, previous revascularization, hypersensitive C-reactive protein (hs-CRP), positive MPI, left ventricular end-diastolic volume (EDV), end-systolic volume (ESV), ejection fraction (EF), summed stress score (SSS), summed rest score (SRS) and summed difference score (SDS) between the death group and the survival group ( χ2 values: 4.58-16.13, t values: -2.34, -3.97, Z values: from -2.81 to 5.02, all P<0.05). Multivariate Cox regression analysis showed that SSS (hazard ratio ( HR)=1.153, 95% CI: 1.062-1.252, P=0.001) and hs-CRP ( HR=1.031, 95% CI: 1.004-1.058, P=0.023) were independent risk factors for cardiac death in patients with CKD. The optimal cut-off value of SSS for predicting cardiac death in those patients was determined to be 8 with the AUC of 0.815, and the incidence of cardiac death in the SSS ≥8 group was significantly higher than that in the SSS<8 group (33.3%(12/36) vs 4.0%(5/124); χ2 = 25.44, P<0.001). Conclusion:MPI is an important imaging method for the evaluation of cardiac death in patients with CKD, SSS and hs-CRP are important risk factors in predicting cardiac death in those patients.

Objective:To investigate the relationship between 18F-fluoro-2-deoxy-d-glucose positron emission tomography/computed tomography(18F-FDG PET/CT)and tumor markers and the prognosis of patients with differentiated thyroid cancer(DTC)treated with surgery combined with iodine-131,and to construct a nomogram prediction model.Methods:The clinical data of 134 patients with DTC who underwent surgery combined with iodine-131 treatment in our hospital from January 2021 to January 2023 were retrospectively analyzed.According to the prognosis after 1 year of treatment,they were divided into a good prognosis group(n=106)and a poor prognosis group(n=28).The general data,18F-FDG PET/CT related parameters[maximum standardized uptake value(SUVmax),metabolic volume(MTV),total lesion gly-colysis(TLG)]and serum tumor markers[thyroglobulin(Tg),thyroglobulin antibody(TgAb)]levels were compared between the two groups.Pearson correlation coefficient was used to analyze the correlation between the related parameters and the tumor marker levels.Logistic multivariate analysis was used to analyze the influencing factors of DTC prognosis.Re-ceiver operating characteristic curve(ROC)was used to analyze the predictive efficacy of related parameters combined with tumor markers on poor prognosis.Anomogram prediction model for poor prognosis was constructed and the predic-tive efficacy of the model was evaluated.Results:The proportion of stage Ⅲ-Ⅳ,the proportion of total resection and the levels of thyroid stimulating hormone(TSH),SUVmax,MTV,TLG,Tg and TgAb in the poor prognosis group were higher than those in the good prognosis group,and the differences were statistically significant(P<0.05).Pearson correlation co-efficient showed that SUVmax,MTV,TLG and Tg,TgAb levels were positively correlated with tumor markers(P<0.05).Lo-gistic analysis showed that after adjusting for confounding variables,SUVmax,MTV,TLG,Tg and TgAb were independent influencing factors for the poor prognosis of DTC(P<0.05).ROC analysis showed that the combination of SUVmax,MTV,TLG,Tg and TgAb was significantly better than each parameter alone in predicting poor prognosis(P<0.05).The nomo-gram prediction model was constructed.ROC evaluation showed that the model had good prediction performance.K-fold cross validation showed that the model had stable performance and good generalization ability.Conclusion:The 18F-FDG PET/CT related parameters SUVmax,MTV,TLG and tumor markers Tg and TgAb are all independent factors affecting the poor prognosis of DTC patients treated with surgery combined with iodine-131.The prognostic nomogram prediction model based on the above factors has good predictive efficacy and can be used to guide clinical decision-making.

Although teniposide(VM26)is widely used in the treatment of lymphoma,its poor water sol-ubility,low bioavailability and systemic toxicities still limit its clinical application.Nano-delivery systems are effective in increasing the bioavailability and reducing the toxicity of VM26,but there is an urgent need to overcome the problem of its non-specific targeting.Therefore,in this paper,we designed and constructed a hyaluronic acid-modified teniposide-targeted nano-delivery system(VM26-TNDS),and characterised its drug encapsulation rate,particle size and zeta potential.We also investigated the effects of VM26-TNDS on B-cell lymphoma cells with different expression of CD44 receptor,in terms of cellular targeting,inhibitory effect of proliferation,and induction of apoptosis and necrosis.The results showed that the drug encapsulation efficiency of VM26-TNDS exceeded 85％,and its liquid formulation could be stably stored at 4 ℃ for more than 6 months without precipitation.Based on CD44 receptor expression,Granta-519(high expression),Raji(medium-low expression)and SU-DHL-4(almost no expression)were screened for cellular experiments.Compared with VM26-NDS,the targeted modification could effec-tively reduce the uptake of VM26-TNDS by RAW264.7 and increase the uptake of VM26-TNDS by CD44 receptor-expressing lymphoma cells.The inhibitory proliferative effect and apoptotic necrosis-inducing a-bility of VM26-TNDS were stronger than those of VM26-NDS for Granta-519 and Raji cells,whereas there was no significant difference in the inhibitory effect on proliferation and ability to induce apoptosis and necrosis between VM26-NDS and VM26-TNDS in SU-DHL-4 cells,reflecting the targeting advantage for VM26-TNDS,as expected.However,its toxic effect on B-cell lymphoma cells only reflected the targeting advantage at some concentrations(0.25 μmol/L and 0.5 μmol/L),which met the expectation.The a-bove results indicate that a teniposide-targeted nano-delivery system,VM26-TNDS,has been successfully prepared in this study.VM26-TNDS improves the delivery efficiency of VM26 by targeting human B-cell lymphoma cells expressing the CD44 receptor,thus killing human B-cell lymphoma cells more effectively and overcoming the problem of non-specific targeting in drug delivery to improve the therapeutic effect.Its biological therapeutic effects and mechanisms still need to be proved by more in vitro and in vivo ex-perimental evidence.

With the rapid development of generative artificial intelligence(GAI)technologies,their widespread application in academic research and writing is continuously expanding the boundaries of sci-entific inquiry.However,this trend has also raised a series of ethical and regulatory challenges,inclu-ding issues related to authorship,content authenticity,citation accuracy,and accountability.In light of the growing involvement of AI in generating academic content,establishing an open,controllable,and trustworthy ethical governance framework has become a key task for safeguarding research integrity and maintaining trust within the academic community.This expert consensus outlines ethical requirements across key stages of AI-assisted academic writing-including topic selection,data management,citation practices,and authorship attribution.It aims to clarify the boundaries and ethical obligations surrounding AI use in academic writing,ensuring that technological tools enhance efficiency without compromising in-tegrity.The goal is to provide guidance and institutional support for building a responsible and sustainable research ecosystem.

Objectives:To analyze the risk factors of atrial fibrillation in patients with non-obstructive hypertrophic cardiomyopathy(NOHCM)and explore the relationship between left ventricular/atrial volume and atrial fibrillation.Methods:Consecutive NOHCM patients admitted at Fuwai Hospital from January 2023 to January 2024 with complete clinical data,satisfactory echocardiography imaging data were included in this analysis,patients were divided into atrial fibrillation group(n=28)and non-atrial fibrillation group(n=57).Left-sided volumetric and functional parameters were measured by one-beat real-time full-volume three-dimensional echocardiography,including left ventricular end-diastolic volume(LVEDV),left ventricular end-systolic volume(LVESV),left ventricular ejection fraction(LVEF),left atrial volume(LAV).The left ventricular end-diastolic volume(LVEDVi)index,left ventricular end-systolic volume index(LVESVi)and left atrial volume index(LAVi)were calculated.Other echocardiographic parameters including interventricular septum(IVSmax)thickness,left ventricular posterior wall thickness(LVPW),and left atrial diameter(LAD)were routinely measured.Mitral valve forward flow spectrum,tissue Doppler,tricuspid regurgitation velocity,and left atrial size were used to evaluate the left ventricular diastolic function of patients,and diastolic dysfunction was classified into grade I,II,and III.Multivariate logistic regression was used to analyze the influencing factors of atrial fibrillation in patients with non-obstructive hypertrophic cardiomyopathy Results:Compared with the non-atrial fibrillation group,LVEDV([143.8±26.7]ml vs.[117.1±21.9]ml)and LVEDVi([79.4±11.9]ml/m2 vs.[64.2±10.6]ml/m2)were smaller in atrial fibrillation group(both P<0.001).Compared with the non-atrial fibrillation group,LAD([40.2±4.7]mm vs.[48.6±4.8]mm)and LAVi([37.3±8.9]ml/m2 vs.[64.4±17.1]ml/m2)were lager in atrial fibrillation group(both P<0.001).Compared with the non-atrial fibrillation group,the proportion of NYHA functional classification≥Ⅲ was higher(15.8%vs.50.0%,P<0.001),LVEF was lower([61.5±5.5]%vs.[57.6±5.0]%,P=0.002),and proportion of severe diastolic dysfunction was higher in atrial fibrillation group(P<0.001).Logistic regression analysis showed that the factors associated with atrial fibrillation in NOHCM patients were LVEDVi(OR=0.744,95%CI:0.575-0.962,P=0.024)and LAVi(OR=1.602,95%CI:1.032-2.486,P=0.036).Conclusions:LVEDVi and LAVi are related factors for atrial fibrillation in patients with non-obstructive hypertrophic cardiomyopathy.LVEDVi is negatively,while LAVi is positively associated with the occurrence of atrial fibrillation in NOHCM patients.