[摘 要] 目的：探讨胃肝样腺癌（HAS）的临床病理特征与免疫微环境异质性，筛选预后标志物，阐释其高侵袭性与疗效差的机制，为精准诊疗策略提供理论依据。方法:​​ 回顾性收集2013年1月至2025年5月期间海军军医大学第一附属医院与第二附属医院收治的65例HAS患者的临床信息及病理资料。采用免疫组织化学技术检测HAS​​肝样分化标志物、神经内分泌标志物​​等分子表达情况，通过Kaplan-Meier生存分析法明确与预后相关的靶点。利用多色免疫荧光技术鉴定肿瘤区域内免疫细胞亚群分布情况，以阐明其免疫微环境特征。结果：65例患者中，男性54例（83.1%），女性11例（16.9%），中位年龄68岁。肿瘤好发于贲门（40%），其次为胃窦（32.3%）和胃体（27.7%）。中位随访时间23.18个月，15例患者死亡，46例生存，4例失访。HAS的胃镜及手术标本大体观呈灰白色实性质硬肿物，镜下可见中低分化胃腺癌与肝细胞癌（HCC）样分化区交错分布。表达神经内分泌相关分子的HAS患者呈现出更多的淋巴结转移数量及更短的总生存期。免疫微环境解析显示，HAS总体缺乏免疫细胞浸润，呈现“冷肿瘤”特征；免疫细胞主要聚集于胃癌腺体周围区域，而在HCC样分化区域罕见淋巴细胞浸润。结论：HAS侵袭性强，根治性手术是主要治疗手段；神经内分泌转化提示不良预后，是个体化治疗的关键标志；免疫细胞浸润缺乏，可能是其免疫治疗响应不佳的原因。

OBJECTIVE: To investigate the midterm clinical efficacy of medial patellofemoral complex (MPFC) reconstruction for recurrent patellar dislocation with high-grade trochlear dysplasia. METHODS: A retrospective analysis was carried out among adult patients who underwent arthroscopically assisted MPFC reconstruction between January 2014 and December 2020. Dejour classification was evaluated to grade trochlear dysplasia; tibial tubercle-trochlear groove (TT-TG) distance and Insall-Salvati index were measured. Preoperative and postoperative patient-reported outcome measures (PROMs) were compared, including International Knee Documentation Committee (IKDC) score, Kujala score, Lysholm score and Tegner score. Information regarding returning-to-sport rate, re-instability events and complications was collected. Patellar tilt (PT), lateral patellar displacement (LPD) and bisect offset (BSO) ratio were measured based on axial computed tomography before and after surgery to assess the patellofemoral congruence. RESULTS: A total of 46 MPFC reconstructions in 43 patients were enrolled, including 16 male and 27 female. Mean age at surgery was (22.2±7.6) years (range: 14-44 years). Mean follow-up was (49.9±22.6) months (range: 18-102 months). The percentages of Dejour B, C and D dysplasia were 37.0% (17/46), 43.5% (20/46), and 19.6% (9/46), respectively. Mean Insall-Salvati index was 1.2±0.2 (range: 0.85-1.44), and mean TT-TG distance was (19.6±3.5) mm (range: 10.6-28.7 mm). At latest follow-up, there were significant improvements in all PROMs (P < 0.001): IKDC score, from 56.3±15.1 to 86.2±8.1; Kujala score, from 58.9±15.6 to 92.6±5.4; Lysholm score, from 63.7±15.0 to 94.0±5.7; Tegner score, from 3.1±1.4 to 4.7±1.4, and there were no significant differences in the improvements of the scores between the patients with Dejour B, C and D dysplasia. Overall, ninety percent of the patients returned to their preoperative sports level. One patient reported a postoperative subluxation, while no cases of infection, limited range of motion or patella fracture were observed. PT, LPD and BSO ratio were all significant altered (P < 0.001) after MPFC reconstruction. CONCLUSION Arthroscopically assisted MPFC reconstruction yielded satisfactory midterm clinical results for recurrent patellar dislocation with high-grade trochlear dysplasia. No significant differences of improvements in knee function were observed among the three types of high-grade trochlear dysplasia.
Humans ; Patellar Dislocation/surgery* ; Male ; Female ; Adult ; Arthroscopy/methods* ; Retrospective Studies ; Adolescent ; Young Adult ; Patellofemoral Joint/surgery* ; Recurrence ; Plastic Surgery Procedures/methods* ; Patella/surgery* ; Treatment Outcome

Schizophrenia (SZ) stands as a severe psychiatric disorder. This study applied diffusion tensor imaging (DTI) data in conjunction with graph neural networks to distinguish SZ patients from normal controls (NCs) and showcases the superior performance of a graph neural network integrating combined fractional anisotropy and fiber number brain network features, achieving an accuracy of 73.79% in distinguishing SZ patients from NCs. Beyond mere discrimination, our study delved deeper into the advantages of utilizing white matter brain network features for identifying SZ patients through interpretable model analysis and gene expression analysis. These analyses uncovered intricate interrelationships between brain imaging markers and genetic biomarkers, providing novel insights into the neuropathological basis of SZ. In summary, our findings underscore the potential of graph neural networks applied to multimodal DTI data for enhancing SZ detection through an integrated analysis of neuroimaging and genetic features.
Humans ; Schizophrenia/pathology* ; Diffusion Tensor Imaging/methods* ; Male ; Female ; Adult ; Brain/metabolism* ; Young Adult ; Middle Aged ; White Matter/pathology* ; Gene Expression ; Nerve Net/diagnostic imaging* ; Graph Neural Networks

Objective:To investigate the effect of peripheral white blood cell(WBC) count on adverse pregnancy outcomes.Methods:A retrospective analysis was conducted on pregnant women who delivered at Minhang Hospital affiliated with Fudan University between January 2013 and June 2020. Demographic data, WBC counts, and diagnostic information on gestational diabetes mellitus(GDM), gestational hypertension, and preeclampsia/eclampsia were extracted from electronic medical records. Logistic regression models were used to evaluate the association between WBC counts in the first(WBC-1) and second trimesters(WBC-2) and metabolically related pregnancy outcomes.Results:A total of 24 143 pregnant women were included, with a mean age of(29.1±4.9) years and a mean pre-pregnancy body mass index(BMI) of(21.1±2.8) kg/m 2. The mean WBC counts in the first and second trimesters were 8.1×10 9/L and 8.9×10 9/L, respectively. The incidence rates of GDM, gestational hypertension, and preeclampsia/eclampsia were 5.6%, 4.8%, and 1.8%, respectively. After adjusting for relevant confounders, a core standard deviation( s) increase in WBC-1 was associated with a 6%, 18%, and 14% increased risk of GDM, gestational hypertension, and preeclampsia/eclampsia, respectively( P<0.001). Similarly, a one s increase in WBC-2 was associated with a 10% increased risk for all three adverse outcomes( P<0.001). Conclusion:Elevated peripheral WBC levels in the first and second trimesters are independently associated with increased risk of adverse pregnancy outcomes, independent of traditional risk factors.

Objective:To establish the normal reference value of the left ventricular remodeling index（RI）in healthy adults，and to evaluate the phenotypes of RI in various left ventricular geometries and its relationship with left ventricular systolic and diastolic functions in asymptomatic hypertensive patients.Methods:A retrospective study design was employed，906 healthy Han Chinese volunteers were selected as the control group from the multicenter study "Echocardiographic Measurements in Normal Chinese Adults"（EMINCA），which was conducted in 2012. The normal reference range of left ventricular RI was established based on the 95% CI（ xˉ ± 1.96 s）. Statistical analyses were conducted to evaluate differences in RI across age groups and between genders. A total of 340 asymptomatic hypertensive patients in the Department of Health Management，Sichuan Provincial People's Hospital from July 2023 to March 2024 were prospectively included as the hypertension group. Conventional echocardiography and two-dimensional speckle tracking imaging were used to assess left ventricular structure and function. Parameters such as left ventricular mass index（LVMI），RI，relative wall thickness（RWT），the ratio of early diastolic mitral inflow velocity to the average early diastolic mitral annular velocity（E/e'），and the ratio of early diastolic to late diastolic mitral inflow velocities（E/A）were calculated. Differences of these parameters between the hypertension group and the healthy control group were compared. The hypertension group was stratified into 3 subgroups based on left ventricular posterior wall thickness at end-diastole（LVPWd）and RI：the non-LV hypertrophy group，the left ventricular hypertrophy with normal RI group，and the left ventricular hypertrophy with low RI group. Relevant parameters were compared among these subgroups，and the statistical significance of the differences was analyzed. Pearson correlation analysis and multiple linear regression analysis were performed to explore the relationships between left ventricular RI and GLS，LVEF，the average mitral annular peak systolic velocity（s'），e'，E/e'，E/A. Results:In the healthy control group，RI showed a declining trend with increasing age in both sexes. Furthermore，the RI was significantly higher in the female group compared to the male group（ P<0.001）. Compared with the healthy control group，LVMI and E/e' increased while RI，e' and s' decreased in the hypertension group（all P < 0.001）. Among the 3 subgroups of the hypertension group，compared with the other two groups，LVMI and Ｅ/e' increased while absolute GLS and s' reduced in the left ventricular hypertrophy with low RI subgroup（all P <0.001）. Pearson correlation analysis revealed that RI was negatively correlated with GLS and E/e'（ r=-0.457，-0.281；all P < 0.001），and positively correlated with LVEF，e'，s' and E/A（ r=0.229，0.394，0.150，0.172；all P < 0.05）. Multivariate linear regression analysis demonstrated that left ventricular RI was independently associated with GLS，LVEF，e'，s'，E/e' and E/A. Conclusions:The normal reference range of left ventricular RI tends to decrease with age and is typically higher in females than in males. In asymptomatic patients with primary hypertension，RI，systolic and diastolic functions of the left ventricular are lower，while LVMI is higher. Among these patients，functional impairment is more pronounced in patients with left ventricular hypertrophy and reduced RI. This indicates that left ventricular RI may offer an imaging basis for further classification and stratification of structural and functional abnormalities in the left ventricle of asymptomatic hypertensive patients.

Objective:To establish a genomic nucleic acid mass spectrometry detection platform for allelic risk associated with Alzheimer's disease.Methods:Whole blood samples of 61 patients diagnosed as Alzheimer's disease in the Affiliated Brain Hospital of Guangzhou Medical University from December 28th, 2023 to 31st, March 2024 were collected and deoxynucleic acid (DNA) was extracted, including 22 males and 39 females, aged (67.36 ± 8.18) years old. After screening out 17 risk gene loci in Chinese population, multiplex polymerase chain reaction primers, single-base extension primers and Sanger sequencing primers were designed. Ten samples were used for primer optimization and debugging through Sanger sequencing and time-of-flight mass spectrometry to establish a detection system. The remaining samples were genotyped using a time-of-flight mass spectrometer and verified by Sanger sequencing for accuracy evaluation. Five samples were selected for gradient dilution and then subjected to time-of-flight mass spectrometry detection to evaluate the detection limit. Three clinical samples, one case of Escherichia coli and one case of Staphylococcus aureus genomic DNA samples were selected for cross-reaction research. The anti-interference ability of the detection system was evaluated against hemolysis, chylous substances and conventional anticoagulants in the samples. Two samples, one wild and one homozygous mutation sample with representative peak shapes, were selected to evaluate the anti-interference ability. Four samples containing the common genotypes of all gene loci in the system were selected and repeated 10 times to evaluate the precision.Results:The minimum intensity of single-base extension primers on mass spectrometry is greater than half of the maximum intensity. All 17 risk gene loci screened were successfully typed. The time-of-flight mass spectrometry detection results of 1,037 loci from 61 samples showed that the genotyping detection rate was 100%. The genotypes of the 20 DNA samples were completely consistent with the results of Sanger sequencing, with an accuracy rate of 100%. The mass spectrometry detection results of five samples after gradient dilution indicated that the low detection limit was 5 ng of DNA. The reaction system has a strong anti-interference ability against hemolysis of samples, chylous substances, conventional anticoagulants and DNA cross-contamination. Homologous allele interference and no cross-reaction between the bacterial genome and 17 gene loci do not affect the risk genome detection results. The results of 10 repeated mass spectrometry tests on 4 samples showed that the precision was 100%.Conclusion:The genomic detection system of Alzheimer's disease risk has been successfully established to provide an auxiliary mean for disease diagnosis and risk assessment.

OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for the detection of low-level mosaicisms in amniotic fluid samples, and to retrospectively analyze the rare cases of mosaicisms. METHODS: Chromosomal karyotype of the fetus was determined by G-banding analysis of cultured amniotic fluid cells. CMA was used to detect copy number variation of fetal chromosomes, and fluorescence in situ hybridization (FISH) was used to determine the proportion of fetal chromosomal mosaicisms in uncultured amniotic fluid cells. RESULTS: Among 825 prenatal samples, 4 cases of true fetal mosaicisms were detected, which yielded an incidence of 0.48%. Two cases were sex chromosomal mosaicisms, and two were autosomal mosaicisms, which involved chromosomes 8 and 9, respectively. All cases were verified by G-banding analysis of cultured amniotic fluid cells, CMA, and/or FISH. CONCLUSION CMA has a great value for detecting low-level mosaicisms in amniotic fluid samples, though the positive results need to be verified by other techniques and should be interpreted with caution. The review of rare cases can provide a basis for prenatal genetic counseling.
Humans ; Female ; Amniotic Fluid/metabolism* ; Pregnancy ; Mosaicism/embryology* ; Prenatal Diagnosis/methods* ; Adult ; In Situ Hybridization, Fluorescence ; Microarray Analysis/methods* ; Karyotyping ; Retrospective Studies ; Male

Cancer incidence in China has been rising steadily,with a particularly heavy burden from several high-prevalence malignancies.Medical examination for cancer plays a critical role in the early detection of cancer,precancerous lesions,and precursor conditions,thereby facilitating timely diagnosis and intervention.Such examination also addresses the growing demand for person-alized cancer screening services among diverse population groups.The development of evidence-based,context-specific cancer screening guidelines is essential to enhance the standardization,quality,and equity of preventive screening practices across the country,ultimately improving out-comes in early cancer detection and treatment.Guided by the Department of Medical Emergency Response of the National Health Commission,the Guidelines for Medical Examination for Cancer in Health Examination Agency(2025 Edition)were developed under the leadership of the National Cancer Center.A multidisciplinary panel of experts formulated the guidelines in accordance with the principles and methodology of the World Health Organization Handbook for Guideline Deve-lopment.The guidelines provide evidence-based recommendations on key clinical domains:target cancers and populations,overall screening workflow,screening protocols,diagnostic technolo-gies,result interpretation,follow-up procedures,and quality control.The primary objective is to standardize cancer screening practices in health examination agency and strengthen China's ca-pacity for prevention and control of high-burden cancers.

Objective:To investigate the association between estimated glomerular filtration rate (eGFR) and the onset and progression of type 2 diabetic retinopathy (DR).Methods:Observational studies on the relationship between eGFR and the progression of DR were searched in the databases of PubMed, Web of Science, Foreign Medical Literature Retrieval Service (FMRS), China National Knowledge Infrastructure and Wanfang data. The search period was from the inception of the databases to January 20, 2024. Meta-analysis of the association between eGFR and the onset and progression of DR with the research data was conducted by using Review Manager 5.3 and Stata 15.0, the weighted mean difference (WMD) and 95% confidence interval (CI) were calculated. Sensitivity analysis and Egger′s test were performed to assess the result stability and publication bias.Results:A total of 30 studies involving 119 142 patients with type 2 diabetes were included in the analysis. The eGFR in the DR group was significantly lower than that in the non-DR group (WMD=8.11, 95% CI: 5.97-10.25, P<0.001). Subgroup analysis by DR type revealed that patients with diabetic macular edema (WMD=7.61, 95% CI: 3.82-11.40) and proliferative DR (WMD=17.40, 95% CI: 10.13-24.66) had significantly lower eGFR when compared to that in non-DR group (both P<0.001). The subgroup analysis results according to different DR diagnostic criteria showed that both the 2003 International DR Grading Standard Group (WMD=8.55, 95% CI: 5.29-11.81) and the 2002 International Clinical DR Severity Grading Standard Group (WMD=10.70, 95% CI: 7.99-13.41) indicated the statistically significant differences in eGFR in relation to the occurrence and progression of DR. Conclusion:The decrease of eGFR is closely related to the occurrence and progression of DR.

Objective:To investigate the adjunctive diagnostic value of retinal imaging structural parameters combined with apolipoprotein E (ApoE) gene polymorphisms for Alzheimer′s disease (AD).Methods:It was a case-control study, 71 confirmed AD patients who attended the Department of Neurology in Sichuan Provincial People′s Hospital from May 2023 to June 2024 and 156 healthy medical checkups who participated in medical checkups in the Health Management Center were continuously with convenience sampling method; the subjects were included as the AD case group and healthy control group, respectively. Optical coherence tomography (OCT) was used to measure the structural parameters of retinal imaging such as the thickness of the retinal nerve fiber layer (RNFL) and the retinal nerve fiber layer-inner plexiform layer (RNFL-IPL) in the study subjects. Information on demographic characteristics and disease history of the study participants were collected through a questionnaire, and venous blood was collected to test for ApoE gene polymorphisms. The retinal imaging structural parameters, ApoE gene polymorphisms and other related indicators were included in a multifactorial logistic regression model to analyze the main factors affecting the risk of AD. Based on the results of the multifactorial analysis, the receiver operating characteristic (ROC) curves were plotted and the areas under the curve (AUC) were calculated to evaluate the efficacy of different models in the adjunctive diagnosis of AD.Results:Of the 227 study subjects included in the analysis, 153 were females and 74 were males; there were 71 cases in the AD case group with a mean age of (66.73±8.83) years, and there were 156 subjects in the healthy control group with an average age of (61.95±8.21) years. Educational attainment of elementary school and below ( OR=4.683, 95% CI: 2.133-10.282), living visual acuity<0.5 ( OR=2.716, 95% CI: 1.12-6.583), and carrying ≥1 ApoE ε4 genes ( OR=5.331, 95% CI: 2.309-11.891) were positively correlated with the risk of AD. RNFL thickening ( OR=0.923, 95% CI: 0.854-0.998) was negatively associated with the risk of AD (all P<0.05). The AD risk assessment model (Model 4), which included fundus imaging features and ApoE gene polymorphisms, had the highest predictive efficacy (AUC=0.857, P<0.001). Conclusion:Retinal imaging structural parameters differ significantly between AD patients and healthy examinees, and a risk assessment model combining retinal imaging structural parameters and ApoE gene polymorphisms has high predictive value and is expected to serve as an auxiliary diagnostic tool for AD.