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

ObjectiveSpinal cord injury (SCI) directly impairs the regulatory function of the autonomic nervous system, induces intestinal dysfunction, and significantly reduces patients’ quality of life. Preclinical studies have shown that electroacupuncture (EA) therapy can regulate the brain-gut axis and is used to treat central nervous system diseases such as major depressive disorder, Alzheimer’s disease and Parkinson’s disease. Recent research has established that fecal microbiota transplantation (FMT) from EA-treated SCI rats restored intestinal motility and colonic morphology. However, it remains unclear whether the regulation of gut microbiota by EA therapy directly contributes to neural repair after SCI. This study aims to explore whether gut microbiota mediates the neuroprotective effect of EA in the treatment of SCI and its possible mechanism. MethodsThe study employed RNA transcriptome analysis of spinal cord tissue to characterize gene expression profiles and to identify key signaling pathways following EA treatment for SCI. Hematoxylin-Eosin (HE) staining and Nissl staining were used to observe the morphological changes in spinal cord tissue. Western blot (WB) and enzyme-linked immunosorbent assay (ELISA) were applied to detect the effects of EA on the expression of proteins related to nucleotide-binding domain leucine-rich repeat and pyrin domain-containing receptor 3 (NLRP3) -dependent pyroptosis. Using 16S rDNA sequencing, the study observed alterations in gut microbiota diversity and community composition in SCI rats. Prior to establishing SCI models, rats were pretreated with an antibiotic cocktail to induce gut dysbiosis, and the effects on intestinal function and spinal cord neural repair were evaluated. FMT was performed to investigate the regulatory effects of post-EA FMT on motor function, general status, liver and spleen indices, and NLRP3-mediated pyroptosis in SCI rats. ResultsEA improved motor function and reduced regulated neuronal cell death in SCI rats. Transcriptomic analysis demonstrated the activation of immune- and inflammation-related pathways post-SCI, including NOD-like receptors, nuclear factor-kappa B(NF-κB), and Toll-like receptor (TLR) pathways. EA primarily influenced intestinal inflammation and autoimmune functions. 16S rDNA sequencing illustrated that EA did not alter the diversity of gut microbiota. However, EA altered the gut microbiota composition in SCI rats, increasing Lactobacillus and Akkermansia genera while rebalancing the Firmicutes/Bacteroidetes ratio. Furthermore, depletion of gut microbiota by antibiotics disrupted the intestinal barrier, reduced the expression of intestinal barrier proteins Zonula Occludens-1 (ZO-1) and Occludin, elevated serum lipopolysaccharide-binding protein (LBP) levels, exacerbated spinal cord tissue damage, and hindered motor function recovery in SCI rats. FMT from donors treated with EA reduced LBP levels in the intestine, blood, and spinal cord of rats, inhibited the TLR4 myeloid differentiation primary response protein 88 (MyD88)-NF‑κB pathway and NLRP3-dependent pyroptosis, and improved motor function. On the other hand, FMT treatment resulted in decreased body weight and food intake, whereas FMT using EA-treated donors effectively alleviated these alterations. ConclusionEA effectively alleviated neuroinflammatory responses in rats with SCI, primarily through regulating the gut microbiota and suppressing the NLRP3-dependent pyroptosis signaling pathway.

ObjectiveSpinal cord injury (SCI) directly impairs the regulatory function of the autonomic nervous system, induces intestinal dysfunction, and significantly reduces patients’ quality of life. Preclinical studies have shown that electroacupuncture (EA) therapy can regulate the brain-gut axis and is used to treat central nervous system diseases such as major depressive disorder, Alzheimer’s disease and Parkinson’s disease. Recent research has established that fecal microbiota transplantation (FMT) from EA-treated SCI rats restored intestinal motility and colonic morphology. However, it remains unclear whether the regulation of gut microbiota by EA therapy directly contributes to neural repair after SCI. This study aims to explore whether gut microbiota mediates the neuroprotective effect of EA in the treatment of SCI and its possible mechanism. MethodsThe study employed RNA transcriptome analysis of spinal cord tissue to characterize gene expression profiles and to identify key signaling pathways following EA treatment for SCI. Hematoxylin-Eosin (HE) staining and Nissl staining were used to observe the morphological changes in spinal cord tissue. Western blot (WB) and enzyme-linked immunosorbent assay (ELISA) were applied to detect the effects of EA on the expression of proteins related to nucleotide-binding domain leucine-rich repeat and pyrin domain-containing receptor 3 (NLRP3) -dependent pyroptosis. Using 16S rDNA sequencing, the study observed alterations in gut microbiota diversity and community composition in SCI rats. Prior to establishing SCI models, rats were pretreated with an antibiotic cocktail to induce gut dysbiosis, and the effects on intestinal function and spinal cord neural repair were evaluated. FMT was performed to investigate the regulatory effects of post-EA FMT on motor function, general status, liver and spleen indices, and NLRP3-mediated pyroptosis in SCI rats. ResultsEA improved motor function and reduced regulated neuronal cell death in SCI rats. Transcriptomic analysis demonstrated the activation of immune- and inflammation-related pathways post-SCI, including NOD-like receptors, nuclear factor-kappa B(NF-κB), and Toll-like receptor (TLR) pathways. EA primarily influenced intestinal inflammation and autoimmune functions. 16S rDNA sequencing illustrated that EA did not alter the diversity of gut microbiota. However, EA altered the gut microbiota composition in SCI rats, increasing Lactobacillus and Akkermansia genera while rebalancing the Firmicutes/Bacteroidetes ratio. Furthermore, depletion of gut microbiota by antibiotics disrupted the intestinal barrier, reduced the expression of intestinal barrier proteins Zonula Occludens-1 (ZO-1) and Occludin, elevated serum lipopolysaccharide-binding protein (LBP) levels, exacerbated spinal cord tissue damage, and hindered motor function recovery in SCI rats. FMT from donors treated with EA reduced LBP levels in the intestine, blood, and spinal cord of rats, inhibited the TLR4 myeloid differentiation primary response protein 88 (MyD88)-NF‑κB pathway and NLRP3-dependent pyroptosis, and improved motor function. On the other hand, FMT treatment resulted in decreased body weight and food intake, whereas FMT using EA-treated donors effectively alleviated these alterations. ConclusionEA effectively alleviated neuroinflammatory responses in rats with SCI, primarily through regulating the gut microbiota and suppressing the NLRP3-dependent pyroptosis signaling pathway.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

Objective This study explores the clinical correlation between different low-density lipoprotein cholesterol(LDL-C)levels and prognosis,providing evidence-based guidance for the development of personalized lipid-lowering goals.Methods Patients who underwent elective percutaneous coronary intervention(PCI)treatment at Beijing Anzhen Hospital from January 2020 to June 2023 and received lipid-lowering therapy with the addition of Evolocumab were selected.Based on the results of blood lipid rechecks 3 to 6 months after surgery,the patients were divided into five groups:low-density lipoprotein＜0.5 mmol/L,0.5 to＜1.0 mmol/L,1.0 to＜1.4 mmol/L,1.4 to＜1.8 mmol/L,and above 1.8 mmol/L.All patients were followed up for more than one year,and clinical conditions and major adverse cardiovascular events(MACE)were recorded.Results A total of 1 106 patients undergoing PCI were enrolled;after propensity score matching and exclusion of patients lost to follow up,550 remained(110 per group).During 12 months of follow-up,58 patients(10.5％)experienced a MACE,with incidence rising step-wise across LDL-C categories.In multivariable Cox models adjusted for age,sex,diabetes,hypertension,baseline LDL-C,follow-up LDL-C,estimated glomerular filtration rate(eGFR),and left ventricular ejection fraction,the hazard ratios[HR(95％CI)]for MACE,relative to the＜0.5 mmol/L group,were 1.810(0.507-6.454,P=0.361),3.036(0.945-9.749,P=0.062),5.228(1.737-15.735,P=0.003),7.708(2.633-22.565,P＜0.001)for LDL-C levels of 0.5 to＜1.0,1.0 to＜1.4,1.4 to＜1.8 and≥ 1.8 mmol/L,respectively.A restricted cubic spline model demonstrated a significant non-linear positive association between LDL-C and MACE(P-overall≤0.001;P-non-linear=0.008).Stratified analyses by age,sex,hypertension and diabetes showed consistent HR with no significant interactions(all P＞0.05).There were no statistically significant differences among the groups in the incidence of bleeding events,elevated creatinine levels,or abnormal liver function(all P＞0.05).Conclusions In patients using PCSK9 after PCI,there is a significant positive correlation between LDL-C levels and the risk of MACE,and no correlation was observed between different LDL-C levels and the risk of adverse events such as bleeding.

Objective:To investigate the clinical efficacy of Di'ao Xinxuekang Capsules combined with injectable pancreatic kallidinogenase in the treatment of diabetic retinopathy. Methods:This study was a prospective research. A total of 90 patients with diabetic retinopathy treated at The People's Hospital of Liaoning Province from September 2021 to March 2024 were included in this study. The patients were randomly assigned to an observation group and a control group, with 45 patients in each group, using the random number table method. The control group received treatment with injectable pancreatic kallidinogenase, while the observation group underwent treatment with Di'ao Xinxuekang Capsules in addition to injectable pancreatic kallidinogenase. Both groups were treated for 14 days. The clinical efficacy, changes in visual acuity after treatment compared with before treatment, ocular hemodynamic indicators (peak systolic velocity and resistance index), and the incidence of adverse reactions were compared between the two groups. Results:The response rate in the observation group was significantly higher than that in the control group [90.91% (40/45) vs. 73.33% (33/45), χ2 = 8.61, P<0.05]. Before treatment, there were no significant differences between the two groups regarding visual acuity values, retinal thickness, and ocular hemodynamic parameters ( t = 0.11, 0.05, 0.47, 1.08, all P>0.05). After 14 days of treatment, the visual acuity in the observation group was significantly higher than that in the control group [(1.06 ± 0.11) vs. (0.81 ± 0.06), t = 12.62, P<0.001]. The peak systolic velocity in the observation group was significantly greater than that in the control group [(31.85 ± 1.92) cm/s vs. (27.01 ± 1.33) cm/s, t = 8.01, P<0.001]. The retinal thickness in the observation group was significantly lower than that in the control group [(311.5 ± 45.2) μm vs. (350.3 ± 59.3) μm, t = -3.49, P<0.001]. The resistance index in the observation group was significantly lower than that in the control group [(0.59 ± 0.02) vs. (0.68 ± 0.04), t = -12.57, P<0.001]. There was no significant difference in the incidence of adverse reactions between the observation and control groups [8.89% (4/45) vs. 6.67% (3/45), χ2 = 0.16, P>0.05]. Conclusions:Di'ao Xinxuekang Capsules combined with injectable pancreatic kallidinogenase for the treatment of diabetic retinopathy can effectively enhance clinical efficacy, improve patients' visual acuity and ocular hemodynamic indicators, and is considered safe.

Objective:To investigate the clinical efficacy of Zhibitai capsules combined with liraglutide in the treatment of type 2 diabetes mellitus (T2MD) complicated by metabolic-associated fatty liver disease (MAFLD). Methods:This study used a prospective design. A total of 92 patients with T2DM complicated by MAFLD who were admitted to The People's Hospital of Liaoning Province from September 2023 to September 2024 were included in this study. They were randomly divided into an observation group and a control group, with 46 patients in each group. Both groups received lifestyle intervention and standard antidiabetic treatment. The control group received subcutaneous injections of liraglutide, while the observation group was treated with liraglutide combined with Zhibitai capsules. All patients were treated for 3 months. Blood glucose levels, glycated hemoglobin, blood lipid levels, liver function, and hemodynamic parameters were compared between the two groups both before and after treatment. The controlled attenuation parameter of liver fat was measured using Fibro Touch. Results:After treatment, there were no statistically significant differences in fasting blood glucose, 2-hour postprandial blood glucose, and glycated hemoglobin levels between the two groups (all P > 0.05). The high-density lipoprotein cholesterol level in the observation group was significantly higher than that in the control group [(1.31 ± 0.40) mmol/L vs. (0.90 ± 0.30) mmol/L, t = -5.56, P < 0.001]. The levels of total cholesterol [(3.70 ± 0.80) mmol/L vs. (4.40 ± 0.90) mmol/L], triglycerides [(1.50 ± 0.40) mmol/L vs. (2.60 ± 0.50) mmol/L], and low-density lipoprotein cholesterol [(1.80 ± 0.50) mmol/L vs. (2.60 ± 0.60) mmol/L] in the observation group were significantly lower than those in the control group ( t = 3.94, 11.65, 6.39, all P < 0.001). The controlled attenuation parameter of liver fat in the observation group was significantly lower than that in the control group [(249.20 ± 7.60) dB/m vs. (264.70 ± 8.70) dB/m, t = 9.10, P < 0.001]. The level of total bilirubin in the observation group was significantly higher than that in the control group [(16.40 ± 1.50) μmol/L vs. (15.00 ± 1.40) μmol/L, t = -4.63, P < 0.05], while the levels of other liver function indicators in the observation group were significantly lower than those in the control group ( t = 4.83, 9.57, 3.66, all P < 0.001). After treatment, whole blood viscosity at high shear rates, whole blood viscosity at lower shear rates, plasma viscosity, and platelet aggregation levels were all significantly lower in the observation group compared with the control group ( t = 2.13, 2.62, 2.97, 6.15, 4.00, all P < 0.05). Conclusions:Zhibitai capsules combined with liraglutide can improve blood glucose levels, lipid profiles, and liver function, while also decreasing blood viscosity in patients with T2MD complicated by MAFLD.

Objectives:To explore whether short-course radiotherapy (SCRT)-based total neoadjuvant therapy (TNT) combined with PD-1 inhibitors could further promote tumor regression and improve the prognosis.Methods:This is a prospective, multicenter, two-arm randomized controlled, seamless phase Ⅱ/Ⅲ trial for proficient mismatch repair or microsatellite stable (pMMR/MSS) locally advanced rectal cancer (LARC). Eligible patients were randomly assigned to the iTNT (TNT+PD-1) group or the TNT group. Patients in the TNT group received SCRT (5 Gy×5) followed by 4 cycles of CAPOX or 6 cycles of mFOLFOX chemotherapy, with the iTNT group receiving SCRT followed by the same regime in combination with 4 cycles of Sintilimab. Total mesorectal excision (TME) surgery or watch and wait (W&W) was performed after neoadjuvant therapy and then 2 cycles of same regimen as before were recommended. The primary endpoints are the complete response (CR) rate for phase Ⅱ trial and 3-year disease-free survival (DFS) for phase Ⅲ trial. A total of 588 patients will be enrolled for the phase Ⅱ/Ⅲ trial. Short-term efficacy and safety data from the initial 100 treated patients were analyzed as planned.Results:From 2022-8-31 to 2023-5-24 the initial 100 patients were enrolled from 10 hospitals in China, 76.0%(76/100) patients were male, and the median age was 61 years (21-74 years). More patients had tumors located in the lower rectum (78.0%, 78/100), staged T3-4 (97.0%, 97/100) and N1-2 (93.0%, 93/100), and about half of the tumors invaded the mesorectal fascia (52.0%, 52/100) and with extramural vascular invasion (51.0%, 51/100). Analyses were performed according to the per-protocal (PP) set. All patients in the iTNT group ( n=52) and the TNT group ( n=48) completed SCRT; The 4-cycle chemotherapy±Sintilimab completion rates were 86.5% and 100.0% in the iTNT and TNT groups, respectively. In the iTNT group, 82.7% (43/52), 11.5% (6/52), and 5.8% (3/52) of the patients received 4, 3, and 2 cycles of PD-1 inhibitor. After TNT, 68 patients underwent radical surgery and 15 patients achieved cCR and adopted W&W. The pathological complete response (pCR) rates were 48.5% (16/33) and 17.1% (6/35) in the iTNT and TNT groups, with CR rates of 50.0% (25/50) and 26.1% (12/46), respectively. The incidence of treatment-related grade 3-4 adverse events was 26.9% (14/52, iTNT group) and 18.8% (9/48, TNT group), with thrombocytopenia and leukopenia being the most common. Among patients receiving immunotherapy, grade 3 immunotherapy-related adverse events occurred in 2 (3.8%, 2/52) patients: one case was pancreatitis, another case was hepatitis combined with myositis and myocarditis. Conclusion:The preliminary results show that SCRT-based TNT combined with PD-1 inhibitors could further improve the CR rate for LARC without unexpected serious adverse events.

Objective:To analyze and evaluate the current state of the collaborative network among representative medical and public health institutions in Xiangtan city,Hunan Province.Methods:A comprehensive analysis was conducted using social network analysis and focus group interviews to examine the structure and status of five types of collaborative networks among key institutions—hospitals,specialized public health agencies,and primary healthcare facilities—in the case study area.Results:Significant urban-rural differences were observed in the collaborative networks.The further education network was loosely structured,with limited participation from public health institutions.The training network exhibited higher density,with district-level public health institutions and county-level hospitals serving as the core actors in urban and rural areas,respectively.In the supervision and assessment network,rural areas demonstrated multi-stakeholder involvement,whereas urban areas were predominantly led by public health institutions,with district-level medical institutions largely absent.Both infectious and chronic disease information reporting networks were more tightly integrated in rural areas,while urban areas showed insufficient participation from medical institutions.Conclusions:It is essential to strengthen cross-level collaboration among medical and public health institutions,improve a two-way evaluation and incentive mechanism tailored to urban and rural settings,and promote data-sharing initiatives to facilitate the circulation and integration of medical and public health information.

A centrifugation-free,single-reaction colorimetric method for detection of glucose,utilizing a dual nanozyme cascade system based on gold nanoparticles(AuNPs)and iron-doped carbon dots(FeCDs),was developed in this work.The AuNPs exhibited glucose oxidase-like activity to catalyze glucose oxidation for generation of H2O2,while the FeCDs demonstrated peroxidase-like activity to subsequently catalyze the H2O2-mediated oxidation of 3,3',5,5'-tetramethylbenzidine(TMB).To prevent interference from the blue signal generated by self-aggregation of AuNPs in subsequent quantitative detection,the reaction system was terminated with HCl,converting oxTMB into a stable yellow product.Based on changes in the absorbance at 450 nm of this yellow solution,a quantitative relationship was established between glucose concentration and absorbance at 450 nm(A450).Experimental results demonstrated that this sensor achieved a linear detection range of 44 μmol/L to 11.11 mmol/L(R2=0.993)with a detection limit of 30.68 μmol/L and spiked recoveries of 97.9%-104.7%.By integrating smartphone-based color recognition capabilities,a rapid visual detection platform was established for quantification of glucose through RGB analysis.The validation experimental results using commercial glucose injection samples further confirmed the practical application potential of this methodology.