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

To investigate the effect of mesenchymal stromal cells (MSCs) on the fibrosis progression and endometrial regeneration in mouse models of endometrial injury, a mouse endometrial injury model was established by physical scraping combined with lipopolysaccharide (LPS) chemical induction, and the endometrium morphology and collagen deposition were evaluated by HE and Masson staining after unilateral administration of MSCs. RT-qPCR and immunofluorescence were used to detect the expression of epithelial markers Epcam and collagen I (Col1). Primary endometrial epithelial cells were isolated to assess p21 expression. Fibrosis-related genes and signaling pathways were validated using transcriptome sequencing and RT-qPCR. The experimental results showed that MSCs increased endometrial thickness and number of glands (P<0.05), up-regulated the expression of Epcam (P<0.01), while significantly reducing uterine collagen fiber deposition (P<0.05) and the expression of p21 in primary epithelial cells (P<0.0001). Transcriptomic analysis revealed that MSCs attenuated collagen deposition by modulating genes involved in the TGF-β signaling pathway. This study elucidates that MSCs facilitate uterine repair by reversing endometrial fibrosis and promoting epithelial regeneration, and their role is related to the regulation of the TGF-β/SMAD pathway and suppression of aberrant collagen accumulation.

Objective To investigate predictive value of soluble growth stimulation-expressed gene 2 protein (sST2), cardiac troponin T (cTnT), and creatine kinase-myocardial band (CK-MB) for steroid resistance and prognosis in patients with immune checkpoint inhibitor-associated myocarditis (ICIAM). Methods A total of 28 patients with ICIAM were prospectively enrolled from March 2023 to February 2024 at Zhongshan Hospital, Fudan University. All participants were divided into the steroid-resistant ICIAM (srICIAM) group and the non-srICIAM group. Baseline serum levels of sST2, cTnT and CK-MB were detected prior to treatment initiation. ROC curve analysis was applied to evaluate the predictive value of these biomarkers, and Kaplan-Meier survival analysis was performed to explore the relationship between sST2 and all-cause mortality. Results Baseline sST2, cTnT, and CK-MB levels were significantly higher in the srICIAM group (n＝15) than in the non-srICIAM group (n＝13, P＜0.05). Combination of cTnT and sST2 improved predictive performance for srICIAM (AUC＝0.857, sensitivity 0.714, specificity 1.000). After 6 months of follow-up, the high sST2 group had a significantly higher all-cause mortality than the low sST2 group (P＝0.016). Conclusions The combination of sST2 and cTnT could effectively predict srICIAM, and elevated sST2 is associated with increased higher all-cause mortality in ICIAM patients, providing a basis for early risk stratification and treatment optimization.

Objective To explore the dominant views with positive results when performing echocardiography on common congenital heart disease (CHD) in children using the seven-step screening method for pediatric echocardiography. Methods The echocardiographic data of children with atrial septal defect, patent foramen ovale, ventricular septal defect, and patent ductus arteriosus were collected from September 2021 to February 2022. The disease type distribution, view distribution, and the dominant view distribution were analyzed. Dominant view referred to the view with a high ratio of positive result images per view to the total image in each disease. Results A total of 8 353 images of 1 633 children with common CHD were collected. There were 813 males and 820 females ageed 0-7 years, including 3 613 images in 701 patients with atrial septal defect, 1 178 images in 206 patients with patent foramen ovale, 2 857 images in 576 patients with ventricular septal defect, and 705 images in 150 patients with patent ductus arteriosus. The dominant views of atrial septal defect were subxiphoid 2-chamber view (92.96%), subxiphoid 4-chamber view (85.61%), parasternal 4-chamber view (62.07%), and parasternal short-axis view (38.50%). The dominant views of patent foramen ovale were subxiphoid 2-chamber view (82.69%) and subxiphoid 4-chamber view (65.41%). The dominant views of ventricular septal defect were parasternal 5-chamber view (79.73%), parasternal short-axis view (79.41%), parasternal 4-chamber view (58.18%), and parasternal long-axis view (51.11%). The dominant view of patent ductus arteriosus was parasternal short-axis view (98.80%). Conclusion The analysis of the lesion key areas of common CHD shows that there are 4 dominant views for atrial septal defect and ventricular septal defect, 2 for patent foramen ovale, and only 1 for patent ductus arteriosus. Clarifying the dominant views of common CHD is conducive to rapid and accurate diagnosis of diseases, clinical practice, teaching and scientific research.

Objective To investigate the relationship between inflammation index and the severity of cere-bral small vessel disease.Methods A total of 168 patients with cerebral small vessel disease who were admit-ted to the Eighth People's Hospital of Hebei from August 2019 to October 2022 were selected as the study ob-jects.The study subjects were divided into cerebral small vessel disease with light burden(light burden group)and cerebral small vessel disease with medium-heavy burden(medium-heavy burden group)according to the total imaging burden score of cerebral small vessel disease.The basic data and systemic immune-inflam-matory index(SII),neutrophil to lymphocyte ratio(NLR),platelet to lymphocyte ratio(PLR),and monocyte to lymphocyte ratio(MLR)were compared between the two groups.Spearman correlation analysis was used to evaluate the correlation between SII,NLR,PLR and MLR and the total imaging burden score of cerebral small vessel disease,and the influence of SII,NLR,PLR and MLR on the medium-heavy burden of cerebral small vessel disease was further analyzed by multivariate Logistic regression.Receiver operating characteristic(ROC)curves were plotted to analyze the predictive value of SII,NLR,PLR and MLR in the severity of cere-bral small vessel disease.Results The age,smoking history,hypertension history,neutrophil,platelet,SII,NLR,PLR and MLR in medium-heavy burden group were significantly higher than those in light burden group,and lymphocyte was significantly lower than that in light burden group,with statistical significance(P<0.05).Spearman correlation analysis showed that SII(r=0.377),NLR(r=0.516),PLR(r=0.486)and MLR(r=0.391)were positively correlated with the total imaging burden score of cerebral small vessel disease(P<0.001).Multivariate Logistic regression analysis showed that age,neutrophil,platelet,SII,NLR,PLR and MLR were independent risk factors for medium-heavy burden in cerebral small vessel disease,and lymphocyte was independent protective factor for medium-heavy burden in cerebral small vessel disease(P<0.05).ROC curve analysis results showed that the area under the curve of SII,NLR,PLR and MLR separately detected were 0.720(95%CI:0.646-0.787),0.802(95%CI:0.733-0.859),0.784(95%CI:0.714-0.843)and 0.728(95%CI:0.654-0.794),respectively.The area under the curve of the combined detection of the four indexes was higher than that of the single detection of each index(P<0.05).Conclusion The combined detection of SII,NLR,PLR and MLR has high predictive value for the severity of cerebral small vessel dis-ease,and is worthy of clinical promotion.

Objective:To investigate the feasibility and effectiveness of three-dimensional visualization technology in the precise diagnosis and treatment of locally advanced differentiated thyroid cancer(DTC).Methods:A retrospective analysis was conducted on the clinical data of 196 patients with locally advanced DTC treated at the 960th Hospital of the PLA from December 2021 to August 2023. The cohort included 71 male and 125 female patients, with a mean age of 43.7 years (rangd from 18 to 77 years). All patients underwent neck-enhanced CT scans and were divided into two groups: the study group( n=102), which underwent preoperative three-dimensional visualization of CT data, and the control group( n=94), which did not. Baseline data for both groups were matched using SPSS27.0 with 1∶1 propensity score matching (PSM) and the caliper value was 0.02. A total of 49 patients were included in each group, including 35 first-time surgeries and 14 reoperation. Among the 70 first-time surgeries, 29 patients underwent robotic surgery and 41 underwent open surgery. Among the 28 reoperations, 4 underwent robotic surgery and 24 underwent open surgery. In the study group, three-dimensional visual models were used to comprehensively evaluate the tumor and metastatic lesion size, spatial location, and adjacent relationship with surrounding organs, surgical treatments were guided by these models, whereas the control group relied on two-dimensional imaging for guidance. The clinical data were statistically analyzed using SPSS27.0. Results:All operations were successfully completed. There were no statistical differences in baseline data between the two groups( P>0.05). Among first-time surgeries, the study group showed shorter operation times [175(145, 200) min vs 205(182, 249) min, P<0.001], a lower incidence of postoperative chyle leak (0 vs 8.57%, P=0.027), a higher rate of robotic surgery (48.57% vs 34.28%, P=0.225), a greater number of harvested lymph nodes [46(40, 62) vs 37(28, 56), P=0.032], a greater number of cervical lymph node metastasis[15(7, 22) vs 5(1, 14), P=0.004] and a larger diameter of metastasis lymph nodes[12(10, 16) mm vs 4(1, 10) mm, P<0.001]. There were no significant differences in intraoperative blood loss, postoperative drainage days and incidence of hypoparathyroidism( P>0.05). During the reoperation, the study group had shorter operation times[103.5(95.0, 122.5) min vs 146.50(133.25, 172.25) min, P<0.001], less intraoperative blood loss[12.50(8.75, 22.50) mL vs 30.00(17.50, 35.00) mL, P=0.021], fewer postoperative drainage days[5.00(4.00, 6.00) d vs 6.00(5.00, 7.25) d, P=0.016] and a lower incidence of hypoparathyroidism(7.14% vs 42.86%, P=0.038).The robotic surgery rate was higher in the study group (21.42% vs 7.14%, P=0.596). There were no significant differences in lymph node dissection numbers, metastatic lymph node counts, or chyle leak incidences between the two groups ( P>0.05). No acute bleeding or incision infection occurred in any patient postoperatively. Conclusion:Three-dimensional visualization technology is an effective preoperative assessment method for evaluating the resectability of tumors and metastases lesions in locally advanced DTC. It enhances the accuracy and safety of surgery for locally advanced DTC.

Objective:To investigate the feasibility and safety of implementing a domestic vehicle-mounted remote mobile robotic surgical system in thyroid surgery applications, integrated with 5G communication technology.Methods:Using the main system located on the vehicle-mounted mobile robot operating platform of the 960th Hospital of PLA Joint Logistics Support Force and the slave system of Weifang Traditional Chinese Hospital, the remote radical thyroidectomy 5G communication technology, and analyze the clinical and information transmission data of two female patients who underwent remote mobile robot thyroid cancer surgery on October 21, 2024 at Weifang Traditional Chinese Medicine Hospital.Results:The remote radical thyroidectomy was conducted by the robosurgeons utilizing a vehicle-mounted mobile robotic surgical system, and the procedure was successfully completed without necessitating intermediate open surgery. The operation durations for patient 1 and patient 2 were 135 minutes and 108 minutes, respectively, with 7 and 13 lymph nodes dissected, respectively. The average delay in surgical data transmission was recorded at 61.9 milliseconds, with no instances of signal interruption or frame loss. The procedure proceeded smoothly, without any jamming, and the audio and video transmissions were consistently clear. Follow up for 21 days after surgery showed no complications such as hoarseness, skin damage, or lymphatic fistula.Conclusion:The implementation of a vehicle-mounted remote mobile robotic surgery system for thyroid surgery has demonstrated safety and feasibility. Furthermore, the utilization of the 5G network offers rapid data transmission and minimal latency, closely approximating the therapeutic efficacy of traditional robotic thyroidectomy.

Objective To investigate mechanism of levetiracetam(LEV)on rats with febrile seizures(FS)based on the dipeptidyl peptidase-4(DPP4)/glucagon-like peptide-1(GLP-1)/gluca-gon-like peptide-1 receptor(GLP-1 R)signaling axis.Methods SD juvenile rats were randomly di-vided into blank control group,model group,low-dose LEV group,medium-dose LEV group and high-dose LEV group,with 10 rats in each group.The behavioral indicators of seizures in rats were observed.Hematoxylin-eosin(HE)staining was used to detect histopathological damage in the hippo-campus.Nissl staining was employed to observe the number of Nissl bodies in hippocampal neurons.Enzyme-linked immunosorbent assay(ELISA)was utilized to measure the levels of tumor necrosis factor-α(TNF-α),interleukin-1β(IL-1β),interleukin-6(IL-6),glutamate(Glu)and γ-aminobu-tyric acid(GABA)in the hippocampus.Western blot was applied to detect the protein expressions of glial fibrillary acidic protein(GFAP),inducible nitric oxide synthase(iNOS),CD86,arginase 1(Arg1),CD206,brain-derived neurotrophic factor(BDNF),DPP4,GLP-1 and GLP-1 R in the hippocampus.Results Compared with the blank control group,the model group showed histopatho-logical changes in the hippocampus,with a decreased number of Nissl bodies.The relative protein expressions of GFAP,BDNF,iNOS,CD86 and DPP4,as well as the levels of TNF-α,IL-1β,IL-6 and Glu in the hippocampus were increased,while the relative protein expressions of Arg1,CD206,GLP-1 and GLP-1R,and the level of GABA were decreased,with statistically significant differences(P＜0.05).Compared with the model group,the seizure latency in the low-dose,medium-dose and high-dose LEV groups was prolonged in a dose-dependent manner,and the incidence of grade 3 to 5 seizures was reduced in a dose-dependent manner.The histopathological damage in the hippo-campus was alleviated,the number of Nissl bodies increased in a dose-dependent manner,the rela-tive protein expressions of GFAP,BDNF,iNOS,CD86 and DPP4,and the levels of TNF-α,IL-1β,IL-6 and Glu were decreased in a dose-dependent manner,while the relative protein expres-sions of Arg1,CD206,GLP-1 and GLP-1 R,and the level of GABA were increased in a dose-de-pendent manner,with statistically significant differences(P＜0.05).Conclusion LEV can effec-tively alleviate seizure attacks and histopathological damage in the hippocampus of FS rats,and re-duce hippocampal inflammatory responses and neurotransmitter imbalance.Its mechanism may be re-lated to the inhibition of DPP4 signaling and the activation of the GLP-1/GLP-1R signaling pathway.

Colorectal cancer is one of the most prevalent malignant tumors in the digestive system globally,with both its incidence and mortality showing an upward trend.In recent years,immunother-apy has become a research focus in the prognosis of CRC.Different states of tumor-infiltrating lym-phocytes(TILs)in patients have distinct impacts on tumor progression.The diversity of TILs and their interactions among cells reflect the complex relationship between tumors and the immune system.Patients with mismatch repair-deficient and microsatellite instability-high(dMMR/MSI-H)molecular phenotypes exhibit higher levels of TILs.Moreover,immune checkpoint inhibitors(ICIs),which are relevant targeted drugs for immune checkpoint blockade,also demonstrate a higher response rate in colorectal cancer patients with dMMR/MSI-H molecular phenotypes.This article reviewed the basic characteristics and prognostic value of TILs,as well as the relationship between dMMR/MSI-H and the immunological characteristics of colorectal cancer patients.

Objective: To explore the therapeutic mechanism of puerarin in treating rheumatoid arthritis (RA) rats based on the serine/tyrosine protein kinase B (AKT)-phosphorylated forkhead box protein O1 (FOXO1)-interleukin-9 (AKT-FOXO1-IL-9) signaling pathway. Methods : 36 rats were randomly divided into a blank group , a model group , a positive control group , and low , medium , and high dose groups of puerarin. Except for the blank group , the other groups were induced with type Ⅱ collagen to establish a RA rat model. After successful modeling , different doses of puerarin and methotrexate were given to treat the rats. The body mass and toe thickness of the rats were measured , and biochemical indicators of rat blood rheology were detected. X-ray was used to observe changes in rat joint morphology. Safranin green staining were used to observe the pathology of rat joint tissue. ELISA was used to detect the levels of IL-9 and rheumatoid factors in rat serum , and Western blot was used to detect changes in levels of AKT and FOXO1 . 36 rats were randomly divided into a blank group , a model group , a positive control group , and low , medium , and high dose groups of puerarin. Except for the blank group , the other groups were induced with type Ⅱ collagen to establish a RA rat model. After successful modeling , different doses of puerarin and methotrexate were given to treat the rats. The body mass and toe thickness of the rats were measured , and biochemical indicators of rat blood rheology were detected. X-ray was used to observe changes in rat joint morphology. Safranin green staining were used to observe the pathology of rat joint tissue. ELISA was used to detect the levels of IL-9 and rheumatoid factors in rat serum , and Western blot was used to detect changes in levels of AKT and FOXO1 . Results: Compared with the blank group , the model group had the lowest toe thickness , and X-ray images showed more obvious segmental stenosis and more severe marginal bone invasion ; scaly like changes appeared at the edges of joints stained with safranin green , accompanied by the exudation of inflammatory cells and increased proliferation and secretion of chondrocytes ; the expression levels of inflammatory factors IL-9 and rheumatoid factors were the highest , and the expression levels of AKT and FOXO1 proteins were the highest (P < 0. 05) . Compared with the model group , the toe thickness of rats treated with different doses of puerarin decreased ; X-ray images showed that the puerarin treatment group of rats showed improvement in plantar joint stenosis and marginal bone invasion ; the results of safranin green staining showed that after treatment with different doses of puerarin , the infiltration of inflammatory cells decreased , and the expression levels of inflammatory factor IL-9 , rheumatoid factors , AKT , and FOXO1 proteins decreased significantly ( P < 0. 05 ) , with the high-dose puerarin group showing the most significant difference. Compared with the high-dose puerarin group , the positive control group showed a significant decrease in the above results and statistical differences (P < 0. 05) . Conclusion Puerarin has a good therapeutic effect on rats with RA by inhibiting the AKT-FOXO1-IL-9 pathway. The high-dose puerarin group (60 mg/kg) has the best therapeutic effect and the results show a dose-response relationship.