[Objective]To present a case of complete androgen insensitivity syndrome (CAIS) coexisting with Müllerian duct remnants (MDR) and to review previous reports in the literature to enhance the understanding of the clinical manifestations and pathophysiology of CAIS.[Methods]The study aimed to diagnose complete androgen insensitivity syndrome (CAIS) by conducting physical examinations,chromosomal analysis,whole exome sequencing,laboratory tests including follicle-stimulating hormone (FSH),luteinizing hormone (LH),total testosterone,estradiol,anti-Müllerian hormone (AMH),inhibin B,dehydroepiandrosterone sulfate (DHEAS),androstenedione,17-hydroxyprogesterone,and imaging studies such as pelvic ultrasound and pelvic magnetic resonance imaging (MRI). Laparoscopy revealed the presence of Müllerian duct structures. Additionally,the study reviewed similar cases of CAIS combined with Müllerian duct remnants reported in the literature.[Results]The child presented with female phenotype,elevated levels of FSH,LH,and testosterone. Pelvic MRI showed bilateral cryptorchidism without visible uterus or fallopian tubes. The chromosomal karyotype was 46,XY,and whole exome sequencing identified a pathogenic variant in the androgen receptor (AR) gene,c.2359C>T (p.Arg787*). No abnormalities were found in the AMH and AMHR2 gene tests. Laparoscopic exploration revealed underdeveloped testes and an underdeveloped uterus. Pathology showed the presence of fallopian tube-like structures next to the testicles. A total of 11 cases with genetically confirmed diagnosis of CAIS coexisting with MDR were retrieved from the database. The findings suggest that the initial clinical presentation,biochemical data,and gonadal pathology of CAIS with MDR are similar to those without MDR.[Conclusion]The study reports a patient with CAIS coexisting with MDR,which broadens the clinical spectrum of CAIS and provides a perspective for basic research on Müllerian duct regression that is independent of the AMH-AMHR2 signaling pathway.

Objective: To investigate the relationship between health literacy and sports injuries among high school students with athletic specialization, so as to provide theoretical basis for the intervention of sports injury occurrence of sports special students. Methods: A total of 443 high school students with athletic specialization aged 16-18 years old from 21 urban and rural areas in Shangrao City, Ganzhou City and Nanchang City of Jiangxi Province were selected by convenient sampling method from March to April 2023, and the health literacy and sports injury incidence were investigated. The assessment of sports injury was based on the Monitoring Method of Child and Adolescent Injury, and the assessment of health literacy level was conducted using the Interactive Health Literacy Questionnaire of Chinese Adolescents. χ 2 test was used to compare the reported rate of sports injuries among the demographic and sports training groups and the correlation between health literacy and sports injuries. Binary Logistic regression analysis was used to infer the correlation between the health literacy level of high school students with athletic specialization and the occurrence of sports injuries. Results: The prevalence of sports injury was 49.4% in high school students with athletic specialization. Binary Logistic regression analysis showed that the risk of sports injury of high school students with athletic specialization with medium and low level of health literacy was significantly increased compared with high level (medium level: OR = 1.98,95% CI =1.12-3.51; low level: OR =2.08, 95% CI =1.18-3.68), high school students with athletic specialization in low level of health awareness of sports injury risk was higher than other dimensions of health literacy level (middle level: OR =2.77, 95% CI =1.48-5.19; low level: OR =2.01, 95% CI =1.04-3.88)( P <0.05). The results of stratified analysis showed that among male students with athletic specialization and students with track and field, students with moderate/low overall health literacy had a higher risk of sports injuries compared to high level students (male students: low level, OR =2.46, 95% CI =1.15-5.28; track and field: intermediate level, OR =2.17, 95% CI =1.06-4.43, low level, OR =2.09, 95% CI =1.02-4.30; P <0.05). Conclusions There is a correlation between the health literacy level of high school students with athletic specialization and the occurrence of sports injuries. Students health awareness should be improved to reduce the risk of sports injuries.

Background::Patients who undergo coronary artery bypass grafting (CABG) are known to be at a significant risk of experiencing long-term adverse events, emphasizing the importance of regular assessments. Evaluating health-related quality of life (HRQoL) serves as a direct method to gauge prognosis. Our objective is to ascertain the prognostic significance of consecutive HRQoL assessments using the Physical Component Summary (PCS) and Mental Component Summary (MCS) derived from the Short-Form 36 (SF-36) health survey in CABG patients.Methods::The study population consisted of 433 patients who underwent isolated elective CABG at Fuwai Hospital between 2012 and 2013. SF-36 assessments were conducted during both the hospitalization period and follow-up. The primary endpoint of the study was all-cause mortality, while the secondary outcome was a composite measure including death, myocardial infarction, stroke, and repeat revascularization. We assessed the relationships between the PCS and MCS at baseline, as well as their changes during the first 6 months after the surgery (referred to as ΔPCS and ΔMCS, respectively), and the observed outcomes.Results::The patients were followed for an average of 6.28 years, during which 35 individuals (35/433, 8.1%) died. After adjusting for clinical variables, it was observed that baseline MCS scores (hazard ratio [HR] for a 1-standard deviation [SD] decrease, 1.57; 95% confidence interval [CI], 1.07–2.30) and ΔMCS (HR for a 1-SD decrease, 1.67; 95% CI, 1.09–2.56) were associated with all-cause mortality. However, baseline PCS scores and ΔPCS did not exhibit a significant relationship with all-cause mortality. Notably, there was a dose-response relationship observed between ΔMCS and the likelihood of all-cause mortality (HRs for the 2nd, 3rd and 4th quartiles compared to the 1st quartile, 0.33, 0.45 and 0.11, respectively).Conclusions::Baseline MCS and changes in MCS were independent predictors for long-term mortality of CABG. Better mental health status and recovery indicated better prognosis.

Objective:To investigate influences of ginsenoside Rg1 regulating miR-144-3p on neuroinflammation and blood-brain barrier damage in rats with experimental cerebral hemorrhage,and its regulation on formyl peptide receptor 2(FPR2)/p38 path-way.Methods:Ninety SD rats were randomly divided into control group,cerebral hemorrhage group,ginsenoside Rg1 low-dose group(10 mg/kg),ginsenoside Rg1 high-dose group(40 mg/kg),ginsenoside Rg1 high-dose+ago-miR-144-3p group(40 mg/kg ginseno-side Rg1+ago-miR-144-3p),with 18 mice in each group.Except for control group,experimental intracerebral hemorrhage rat model was constructed by injecting collagenase Ⅱ into right caudate nucleus,and then each group was given intraperitoneal administration and intracerebral injection as required.Neurological damage in rats was scored;rat brain water content was determined by dry-wet spe-cific gravity method;levels of TNF-α,IL-6 and IL-1β in rat brain tissues homogenate were determined by ELISA;ultrastructure around cerebral edema was observed by electron microscope;permeability of blood-brain barrier in rats was determined by Evans blue(EB)method;expressions of miR-144-3p/FPR2/p38 pathway were determined by qRT-PCR and Western blot.Results:Compared with control group,blood-brain barrier damage was aggravated in cerebral hemorrhage group,neurological function damage score,brain water content,miR-144-3p,TNF-α,IL-6,IL-1β,p38 mRNA,p-p38/p38 expressions in brain homogenate were increased(P<0.05),FPR2 mRNA and protein expressions were decreased(P<0.05);compared with cerebral hemorrhage group,blood-brain barrier damage was reduced in ginsenoside Rg1 low-dose group and ginsenoside Rg1 high-dose group,neurological function damage score,brain water content,miR-144-3p,TNF-α,IL-6,IL-1β,p38 mRNA,p-p38/p38 expressions in brain homogenate were decreased(P<0.05),FPR2 mRNA and protein expressions were increased(P<0.05);ago-miR-144-3p was able to reverse protective effects of gin-senoside Rg1 on blood-brain barrier and neuroinflammation in rats(P<0.05).Conclusion:Ginsenoside Rg1 may inhibit blood-brain barrier damage and neuroinflammation in rats by regulating miR-144-3p/FPR2/p38 axis.

Objective:To compare the efficacy of 2 fixation modes [dynamic hip screw (DHS) plus anti-rotation screw versus 3 cannulated compression screws (CCS)] in the treatment of femoral neck fractures complicated with comminuted posterior wall.Methods:The data were analyzed retrospectively of the 109 patients who had been treated for femoral neck fractures complicated with comminuted posterior wall at Department of Orthopaedics, Shenzhen Hospital, University of Chinese Academy of Sciences from February 2017 to December 2019. They were divided into 2 groups according to 2 fixation modes. There were 42 males and 16 females with an age of 48.5 (40.0, 55.3) years in CCS group of 58 cases subjected to fixation with 3 CCSs; there were 31 males and 20 females with an age of 47.0 (38.0, 53.0) years in DHS group of 51 cases subjected to fixation with DHS plus anti-rotation screw. The length of incision, operation time, intraoperative bleeding, weight-bearing time for the affected limb, visual analog scale (VAS), hip Harris score, and incidence of postoperative complications were compared between the 2 groups.Results:The comparison of preoperative general data between the 2 groups was not statistically significant, showing comparability between groups ( P>0.05). In the CCS group, the incision length [3.0 (2.9, 4.5) cm] and operation time [90.0 (73.8, 125.0) min] were significantly shorter than those in the DHS group [10.0 (9.0, 12.0) cm and 135.0 (110.0, 165.0) min], the intraoperative bleeding [40.0 (10.0, 100.0) mL] was significantly less than that in the DHS group [200.0 (150.0, 300.0) mL], the partial and complete weight-bearing durations of the affected limb [12.0 (12.0, 13.0) weeks and 24.0 (21.0, 25.0) weeks] were significantly longer than those in the DHS group [11.0 (10.0, 12.0) weeks and 19.0 (18.0, 20.0) weeks], and the perioperative VAS pain score [2.0 (2.0, 3.0) points] was significantly lower than that in the DHS group [5.0 (4.0, 6.0) points], but the incidence of follow-up complications [56.9% (33/58)] was significantly higher than that in the DHS group [33.3% (17/51)] (all P<0.05). There was no significant difference between the DHS group and the CCS group in the excellent and good rate of Harris hip score at one year after operation [94.1% (48/51) versus 91.4% (53/58)] ( P>0.05). Conclusions:In the treatment of femoral neck fractures complicated with comminuted posterior wall, DHS plus anti-rotation screw and 3 CCSs can both result in fine therapeutic outcomes but a relatively high incidence of complications at late follow-up. However, the former fixation mode can shorten the weight-bearing time for the affected limb and reduce complications but is more invasive than the latter fixation mode.

In this study,a fluorescent(FL)aptasensor was developed for on-site detection of live Salmonella typhimurium(S.T.)and Vibrio parahaemolyticus(V.P.).Complementary DNA(cDNA)of aptamer(Apt)-functionalized multicolor polyhedral oligomeric silsesquioxane-perovskite quantum dots(cDNA-POSS-PQDs)were used as encoded probes and combined with dual-stirring-bar-assisted signal amplification for pathogen quantification.In this system,bar 1 was labeled with the S.T.and V.P.Apts,and then bar 2 was functionalized with cDNA-POSS-PQDs.When S.T.and V.P.were introduced,pathogen-Apt complexes would form and be released into the supernatant from bar 1.Under agitation,the two complexes reached bar 2 and subsequently reacted with cDNA-POSS-PQDs,which were immobilized on MXene.Then,the encoded probes would be detached from bar 2 to generate FL signals in the supernatant.Notably,the pathogens can resume their free state and initiate next cycle.They swim between the two bars,and the FL signals can be gradually enhanced to maximum after several cycles.The FL signals from released encoded probes can be used to detect the analytes.In particular,live pathogens can be distinguished from dead ones by using an assay.The detection limits and linear range for S.T.and V.P.were 30 and 10 CFU/mL and 102-106 CFU/mL,respectively.Therefore,this assay has broad application potential for simultaneous on-site detection of various live pathogenic bacteria in water.

Although genome-wide association studies have identified more than eighty genetic variants associated with non-small cell lung cancer (NSCLC) risk, biological mechanisms of these variants remain largely unknown. By integrating a large-scale genotype data of 15 581 lung adenocarcinoma (AD) cases, 8350 squamous cell carcinoma (SqCC) cases, and 27 355 controls, as well as multiple transcriptome and epigenomic databases, we conducted histology-specific meta-analyses and functional annotations of both reported and novel susceptibility variants. We identified 3064 credible risk variants for NSCLC, which were overrepresented in enhancer-like and promoter-like histone modification peaks as well as DNase I hypersensitive sites. Transcription factor enrichment analysis revealed that USF1 was AD-specific while CREB1 was SqCC-specific. Functional annotation and gene-based analysis implicated 894 target genes, including 274 specifics for AD and 123 for SqCC, which were overrepresented in somatic driver genes (ER = 1.95, P = 0.005). Pathway enrichment analysis and Gene-Set Enrichment Analysis revealed that AD genes were primarily involved in immune-related pathways, while SqCC genes were homologous recombination deficiency related. Our results illustrate the molecular basis of both well-studied and new susceptibility loci of NSCLC, providing not only novel insights into the genetic heterogeneity between AD and SqCC but also a set of plausible gene targets for post-GWAS functional experiments.
Adenocarcinoma of Lung/genetics* ; Carcinoma, Non-Small-Cell Lung/genetics* ; Carcinoma, Squamous Cell/genetics* ; Genetic Heterogeneity ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Lung Neoplasms/genetics* ; Polymorphism, Single Nucleotide

Objective:To study the use of three-dimensional (3D) visualization in diagnosis and interventional treatment of patients with Budd-Chiari syndrome (BCS) presenting with inferior vena cava obstruction and dangerous collateral branches.Methods:The data of 28 patients with BCS presenting with inferior vena cava obstruction and dangerous collateral branches treated at the Affiliated Hospital of Xuzhou Medical University from September 2018 to January 2021 were retrospectively analyzed. There were 11 males and 17 females with a mean age of 49.0 years. Enhanced MR images of these 28 patients were used to build 3D visualization of inferior vena cava. Anteroposterior and left lateral digital subtraction angiography (DSA) of inferior vena cava were performed. The inferior vena cava of these patients was recanalized under guidance of 3D visualization, and patency of inferior vena cava was determined on follow up.Results:3D visualization of inferior vena cava was successfully constructed in all the 28 patients, and 51 dangerous collateral branches were displayed. One, 2, 3 and 4 dangerous collateral branches were found in 13, 8, 6 and 1 patients, respectively. The average angle between the preoperative planning puncture route and the long axis of the proximal end of inferior vena cava was 22.2°. The orifices and courses of the dangerous collaterals and the shape of inferior vena cava could be clearly displayed on 3D visualization in all the 28 patients (100.0%), which were significantly better than the 6 patients (21.4%) using DSA obtained in the anteroposterior and left lateral positions (χ 2=20.045, P<0.05). The inferior vena cava was successfully recanalized in all the 28 patients without complications. On follow up of these patients for 2 to 30 months (mean 18.4 months), the inferior vena cava was patent in 25 patients. Three patients developed inferior vena cava re-obstruction at 3, 4 and 14 months after interventional treatment, respectively. Conclusion:3D visualization was useful in the diagnosis and interventional treatment of patients with BCS presenting with inferior vena cava obstruction and dangerous collateral branches.

Objective:By using the network pharmacology method to predict the active constituents and action targets of Suzi-Jiangqi Decoction in the treatment of COPD, and to explore its potential molecular mechanism with multi-component, multi-target and multi-pathway characteristics. Methods:The active constituents and targets of Suzi-Jiangqi Decoction were collected, screened and predicted according to the Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform (TCMSP) and UniProt software. Search for the gene targets related to COPD in GeneCards, online human Mendelian genetic database (OMIM) and TTD database. The intersection targets of component targets and disease targets were obtained by Veen map online software. The network model with the sequence of active constituents-target-disease was constructed and analyzed by Cytoscape software, and the protein-protein interaction network (PPI) was constructed by STRING database. The gene ontology function annotation (GO) and Tokyo genome encyclopedia (KEGG) pathway enrichment analysis of common targets with metascape online tool. Results:A total of 163 active constituents of Suzi-Jiangqi Decoction were screened, 283 targets were predicted, and 159 targets involved in the treatment of COPD. Quercetin, kaempferol, naringin and luteolin were the key active ingredients. IL6, TNF, MAPK3, JUN, CASP3, CXCL8, CXCL10, MMP9 and MAPK1 were important gene targets. GO analysis showed that the biological processes involved in the enrichment of key gene targets included the response to bacteria, the cytokine mediated signaling pathway, the cell's response to inorganic substances, the response to oxidative stress, the response to LPS, and so on. The enrichment analysis of KEGG pathway showed that the signaling pathway of Suzi-Jiangqi Decoction in the treatment of COPD included TNF signaling pathway, IL-17 signaling pathway, cell cycle, Influenza A, HTLV-I infection, AGE-RAGE signaling pathway, Tuberculosis, Epstein-Barr virus infection and so on. Conclusion:Suzi-Jiangqi Decoction can treat COPD through multi-target and multi-pathway mechanisms of anti-inflammatory, anti infection and immune regulation, which lays a foundation for further study of its molecular mechanism.

Objective:To provide the risk stratification method of hepatoblastoma (HB) suitable for implementation in China and explore the new treatment method for high-risk HB patients.Methods:A total of 100 cases of children and adolescents under 18 years old with newly diagnosed HB in Sun Yat-sen University Cancer Center and Sun Yat-sen University First Affiliated Hospital from September 2014 to September 2018 were included. According to the clinical stage, AFP level, pathological subtype and other factors, patients were stratified into four groups: extremely low-, low-, intermediate- and high-risk. The patients at very low risk were treated with surgery only and followed-up. The patients at very low risk were treated with C5V(Cisplatin+ 5-Fluroracil+ Vincristine) regimen for 4 courses. The patients at intermediate risk were treated with C5VD(Cisplatin+ 5-Fluroracil+ Vincristine+ Doxorubicin)regimen before and after surgery for 6-8 courses. The patients at high risk were treated with C5VD and IIV (ifoshamide+ irinotecan+ vincristine) alternately before and after surgery for 8 courses.Results:One hundred patients were stratified into extremely low-risk, low-risk, medium-risk and high-risk groups for 2, 10, 51 and 37 cases, respectively. Eighty three cases had evaluable lesions before chemotherapy. Among them, 65 patients achieved partial remission, stable disease and progressive disease were observed in 10, and 8 cases, respectively, with a response rate of 78.3%. During a median follow-up of 20 months, 30 patients experienced tumor relapse or progression, and 27 of them died. The 2-years progression-free survival (PFS) and overall survival (OS) rates were 69.2% and 72.0%, respectively. The 2-years PFS rates of patients with extremely low risk, low risk, medium risk and high risk were 100%, 88.9%, 75.3% and 43.2%, respectively. The 2-years OS rates were 100%, 100%, 81.0% and 44.8%, respectively.Conclusions:The novel HB risk classification is simple and feasible. With active comprehensive treatment, patients at extremely low-, low- and medium-risk have excellent outcomes. The survival rate of high-risk HB patients remains to be improved, and new treatment strategies need to be explored.