ObjectiveThe accuracy of Y-chromosome haplogroup assignment is crucial for tracing paternal lineage in male samples. With the advancement of high-throughput sequencing technologies, high-density Y-SNP genotyping from whole-genome or array-based data has become a standard method for determiningY-chromosome haplogroups. This study systematically evaluated the performance of 4 commonly used high-density SNP genotyping systems—namely, the Global Screening Array (GSA), Chinese Genotyping Array (CGA), Affymetrix array, and the 1240K capture panel—for haplogroup assignment. This work provides a reference for data comparison across different systems. MethodsWe extracted genotype data for the 4 Y-SNP panels from 30× whole-genome sequencing (WGS) data of 1 590 male samples from the 1000 Genomes Project. Additionally, GSA array genotype data from 384 relative pairs (spanning 1st- to 12th-degree relationships) from 109 Chinese Han families were collected. Haplogroup assignment was performed using Y-LineageTracker v1.3.0 software. We assessed the concordance and resolution of haplogroup assignments between the four Y-SNP panels and the WGS data. The consistency and resolution of haplogroup assignments were also evaluated for both the 1000 Genomes Project samples and the 109 family samples collected in this study. Furthermore, the impact of varying numbers of Y-SNPs on haplogroup assignment was examined. ResultsThe GSA and CGA panels demonstrated superior resolution and discrimination of haplogroup subclades compared with the other two panels. The haplogroup assignments from the GSA, CGA, and 1240K panels showed high concordance with WGS data, with consistency rates exceeding 88.70%, whereas the Affymetrix platform exhibited a significantly lower consistency rate of 61.89%. Specifically, the GSA and CGA panels consistently demonstrated superior performance compared with the other two panels in the assignment of haplogroups O-M175 and H-L901, achieving complete concordance (100%) for both haplogroups. In contrast, the Affymetrix panel erroneously assigned all individuals belonging to haplogroup O-M175 to haplogroup K2-M526. Furthermore, its accuracy for haplogroup H-L901 was exceedingly low, at merely 1.41%. This poor performance was characterized by the misassignment of 98.59% of H-L901 samples—specifically, 1.41% to J-M304 and a predominant 97.18% to F-M89. For haplogroup R-M207, all four panels exhibited uniformly high levels of consistency, with concordance values exceeding 94.00%. Notably, for haplogroup E-M96, the 1240K and Affymetrix panels outperformed the GSA and CGA panels in terms of concordance, representing the first instance in which these two panels surpassed the latter. Conversely, for haplogroups J-M304, Q-M242, and I-M170, all 4 panels showed relatively elevated misclassification rates, with the Affymetrix array demonstrating the poorest overall performance. None of the four panels showed any discordant haplogroup assignments among the familial relative pairs analyzed. A positive correlation was observed between the number of Y-SNPs (ranging from 1 000 to 10 000) and classification consistency; however, classification consistency plateaued when the number of Y-SNPs exceeded 10 000. Furthermore, a random sampling analysis conducted on the GSA and CGA panels demonstrated that the haplogroup misclassification rate exhibited negligible fluctuation across the Y-SNP range of 500 to 1 000. Conversely, a marked enhancement in classification consistency was observed as the number of markers increased from 1 000 to 5 000, ultimately reaching a plateau within the interval of 5 000 to 8 000 markers. ConclusionThese findings indicate that the GSA and CGA panels provide high resolution and concordance, delivering reliable Y-haplogroup assignment for forensic investigations.

ObjectiveThe accuracy of Y-chromosome haplogroup assignment is crucial for tracing paternal lineage in male samples. With the advancement of high-throughput sequencing technologies, high-density Y-SNP genotyping from whole-genome or array-based data has become a standard method for determiningY-chromosome haplogroups. This study systematically evaluated the performance of 4 commonly used high-density SNP genotyping systems—namely, the Global Screening Array (GSA), Chinese Genotyping Array (CGA), Affymetrix array, and the 1240K capture panel—for haplogroup assignment. This work provides a reference for data comparison across different systems. MethodsWe extracted genotype data for the 4 Y-SNP panels from 30× whole-genome sequencing (WGS) data of 1 590 male samples from the 1000 Genomes Project. Additionally, GSA array genotype data from 384 relative pairs (spanning 1st- to 12th-degree relationships) from 109 Chinese Han families were collected. Haplogroup assignment was performed using Y-LineageTracker v1.3.0 software. We assessed the concordance and resolution of haplogroup assignments between the four Y-SNP panels and the WGS data. The consistency and resolution of haplogroup assignments were also evaluated for both the 1000 Genomes Project samples and the 109 family samples collected in this study. Furthermore, the impact of varying numbers of Y-SNPs on haplogroup assignment was examined. ResultsThe GSA and CGA panels demonstrated superior resolution and discrimination of haplogroup subclades compared with the other two panels. The haplogroup assignments from the GSA, CGA, and 1240K panels showed high concordance with WGS data, with consistency rates exceeding 88.70%, whereas the Affymetrix platform exhibited a significantly lower consistency rate of 61.89%. Specifically, the GSA and CGA panels consistently demonstrated superior performance compared with the other two panels in the assignment of haplogroups O-M175 and H-L901, achieving complete concordance (100%) for both haplogroups. In contrast, the Affymetrix panel erroneously assigned all individuals belonging to haplogroup O-M175 to haplogroup K2-M526. Furthermore, its accuracy for haplogroup H-L901 was exceedingly low, at merely 1.41%. This poor performance was characterized by the misassignment of 98.59% of H-L901 samples—specifically, 1.41% to J-M304 and a predominant 97.18% to F-M89. For haplogroup R-M207, all four panels exhibited uniformly high levels of consistency, with concordance values exceeding 94.00%. Notably, for haplogroup E-M96, the 1240K and Affymetrix panels outperformed the GSA and CGA panels in terms of concordance, representing the first instance in which these two panels surpassed the latter. Conversely, for haplogroups J-M304, Q-M242, and I-M170, all 4 panels showed relatively elevated misclassification rates, with the Affymetrix array demonstrating the poorest overall performance. None of the four panels showed any discordant haplogroup assignments among the familial relative pairs analyzed. A positive correlation was observed between the number of Y-SNPs (ranging from 1 000 to 10 000) and classification consistency; however, classification consistency plateaued when the number of Y-SNPs exceeded 10 000. Furthermore, a random sampling analysis conducted on the GSA and CGA panels demonstrated that the haplogroup misclassification rate exhibited negligible fluctuation across the Y-SNP range of 500 to 1 000. Conversely, a marked enhancement in classification consistency was observed as the number of markers increased from 1 000 to 5 000, ultimately reaching a plateau within the interval of 5 000 to 8 000 markers. ConclusionThese findings indicate that the GSA and CGA panels provide high resolution and concordance, delivering reliable Y-haplogroup assignment for forensic investigations.

Objective: To understand the mosquito infestation status in schools in Jing an District of Shanghai from 2019 to 2025, so as to provide a basis for mosquito control work in schools. Methods: Four schools of each school type (colleges and secondary specialized schools, primary and secondary schools, nurseries and kindergartens) were respectively selected from Jing an District as the survey sites by combination of stratified sampling and convenience sampling. Mosquito breeding sites surveys (including small stagnant water and medium and large static water) and adult mosquito monitoring were carried out in schools every August, from 2019 to 2025. The breeding sites surveys were investigated by visual inspection and spoon trapping methods, and the adult mosquito monitoring was investigated by the human baited trapping. Chi square test was used for inter group comparison. Results: A total of 970 small stagnant water were surveyed from 2019 to 2025, with the positive rate of 17.01% for mosquito breeding. The highest positive rate was in colleges and secondary specialized schools (25.07%). The top three positive breeding sites for mosquito were unused containers(27.46%), waste tires (16.67%), and bonsai and aquatic plants (16.52%). There were statistically significant differences in the positive rates for mosquito breeding among different years, school types and waterlogging types ( χ 2=122.70, 28.48 , 24.80, all P <0.01). A total of 640 medium and large static water were surveyed, and the positive rate for mosquito breeding was 7.34%. There was a statistically significant difference for the positive rate among different years ( χ 2= 50.23 , P <0.01). The highest positive rate for mosquito breeding was in colleges and secondary specialized schools (9.63%), and there was no statistically significant difference for the positive rate among different school types ( χ 2=4.41, P =0.11). From 2019 to 2025, a total of 390 mosquitoes were captured in the time period from 16:30 to 17:00, all of which were Aedes albopictus; the adult mosquito density in colleges and secondary specialized schools was the highest, being 2.38 mosquitoes/(0.5 h ·person). A total of 210 mosquitoes were captured in the time period from 19:00 to 19:30 during 2019-2025, among which Aedes albopictus accounted for 74.76% and Culex pipiens pallens accounted for 25.24%. The adult mosquito density in colleges and secondary specialized schools was the highest, being 1.15 mosquitoes/(0.5 h ·person). In colleges and secondary specialized schools, the area with the largest number of captured mosquitoes was around the teaching buildings and libraries(44.78%). In primary and secondary schools, as well as nurseries and kindergartens, the area with the largest number of captured mosquitoes was around the school gates and playgrounds( 49.44% , 53.60%), the difference in mosquito distribution in different regions among different types of schools was statistically significant ( χ 2=111.39, P <0.01). Conclusions The mosquito density in Jing an District schools is generally higher during summer. It is recommended that the school strengthen the management of mosquito breeding sites and the control of adult mosquitoes before the start of autumn semester, so as to prevent insect infestation of mosquitoes.

Objective To construct a competency evaluation model for forensic practitioners,providing a reference for their training and assessment.Methods Based on the iceberg and onion models of com-petency,and with reference to Spencer's Competency Dictionary,literature research was conducted and focus group interviews were employed to preliminarily construct core indices and measurement items for evaluating the competency of forensic practitioners.The Delphi method was applied for two rounds of expert consultation to further refine the competency evaluation index system.The analytic hierarchy process(AHP)was used to calculate the weights of the indices.Results A competency evaluation model for forensic practitioners was constructed,consisting of 7 core indices,encompassing forensic skills,identification service capabilities,and the ability to apply relevant legal knowledge and 49 mea-surement items.The weights of the core indices and measurement items were determined.Conclusion The constructed competency evaluation model for forensic practitioners is scientifically sound and inno-vative,and has unique characteristics of forensic medicine compared with other medical models.

Objective To investigate the effects of serum insulin-like growth factor 2(IGF2),leucine-rich repeat and fibronectin type Ⅲ domain containing 5(LRFN5)levels on neurological rehabilitation in patients with ischemic stroke(IS).Methods A total of 103 patients with IS who were treated in Shiyan Taihe Hospi-tal from October 2022 to March 2024 were selected as the study group.According to the modified Rankin scale(mRS)score,they were divided into 46 cases in the poor rehabilitation group and 57 cases in the good rehabili-tation group.Another 61 healthy individuals who underwent physical examinations in the hospital during the same period were selected as the control group.The levels of serum IGF2 and LRFN5 were detected by en-zyme-linked immunosorbent assay.Pearson and Spearman correlation analyses were used to analyze the corre-lations between the levels of serum IGF2 and LRFN5 in the poor rehabilitation group and the related indica-tors of neurological function.Logistic regression was used to analyze the influencing factors of poor neurologi-cal rehabilitation in patients with IS,and the receiver operating characteristic curve was plotted to analyze the diagnostic value of serum IGF2 and LRFN5 levels for poor neurological rehabilitation in patients with IS.Re-sults The serum IGF2 level in the study group was significantly lower than that in the control group,and the LRFN5 level was significantly higher than that in the control group.The difference was statistically significant(P<0.05).The scores of the National Institutes of Health Stroke Scale(NIHSS)at admission,the 90-day mRS score,the maximum diameter of the cerebral infarction lesion and the LRFN5 level in the poor rehabilita-tion group were significantly higher than those in the good rehabilitation group,and the IGF2 level was signifi-cantly lower than that in the good rehabilitation group.The differences were statistically significant(P<0.05).The level of serum IGF2 was negatively correlated with the NIHSS score at admission,the 90-day mRS score and the maximum diameter of cerebral infarction lesions.The level of LRFN5 was positively correlated with the NIHSS score at admission,the 90-day mRS score and the maximum diameter of cerebral infarction lesions.The level of IGF2 was negatively correlated with the level of LRFN5(P<0.05).The results of Logis-tic regression analysis showed that the 90-day mRS score and LRFN5 level were risk factors for poor neuro-logical function rehabilitation in patients with IS,and the IGF2 level was a protective factor for poor neurologi-cal function rehabilitation in patients with IS(P<0.05).The area under the curve(AUC)of the combined diagnosis of serum IGF2 and LRFN5 was 0.943(95%CI:0.902-0.984),which was significantly higher than AUC of the diagnosis by a single indicator(Zcombined with the two-IGF2=2.039,P=0.041;Zcombined with the two-LRFN5=2.139,P=0.032).Conclusion The IS patients have a significant reduction in serum IGF2 level and a signifi-cant increase in serum LRFN5 level,which are closely related to their neurological function recovery.The combination of IGF2 and LRFN5 has a certain diagnostic value for neurological function recovery in IS pa-tients.

Purpose To investigate the clinicopathological characteristics,immunophenotype,high-risk human papillomavirus(hrHPV)infection status,treatment,and prognosis of cervical carcinoma exhibiting adenoid cystic car-cinoma(ACC)features.Methods Clinical data from 10 cases of cervical cancer with ACC features were collected.A retrospective analysis was proformed on the patients'clinicopathological data,histological features,and immunopheno-type(EnVision method),along with in situ hybridization detection of hrHPV E6/E7 mRNA covering 18 hrHPV types.Results The median age of the patients was 67.5 years,comprising 4 biopsy specimens and 6 surgical specimens.Except for 2 cases detected incidentally during physical examination,the remaining 8 cases presented with unexplained vaginal bleeding or contact bleeding.The mean tumor diameter was 4.5 cm(range:2.5 to 9.0 cm),and tumor stages were available for 8 patients(5 cases in stage Ⅰ and 1 case each in stages Ⅱ,Ⅲ,and Ⅳ).The follow-up period was 8 to 42 months,excluding 1 case lost to follow-up,2 cases(Ⅲ C1 and ⅣB)died within 1 year after surgery.Histologi-cally,4 cases exhibited pure ACC morphology,while 5 cases were mixed carcinomas(combined with squamous cell carcinoma,adenoid basal cell carcinoma,high-grade neuroendocrine carcinoma,or carcinosarcoma,respectively).The characteristic ACC morphology manifested as cribriform,pseudo-glandular,tubular,trabecular,and/or solid pat-terns with one case mixed carcinoma's lymph node metastasis showing only ACC morphology.Immunohistochemically,all 10 tumors exhibited diffuse strong positivity for p16 and p63,a high Ki67 proliferation index(40％to 90％),and wild-type p53 expression,and in 50％of cases,only a minority of cells were positive for c-MYB.Additionally,SOX10 was positive in 8 of 9 cases and CD117 was positive in 7 of 10 cases,respectively.In situ hybridization for hrHPV E6/E7 mRNA confirmed the presence of transcriptionally active HPV infection in all cases.Conclusion Cervical cancer with ACC features is rare,and predominantly occurs in postmenopausal elderly women.It represents an HPV-associat-ed high-grade carcinoma in which clinical stage is a critical prognostic factor.Immunohistochemical staining for CD117 and SOX10 aids in the pathological diagnosis of this tumor type.

The scientific research and innovation capabilities of medical students are intrinsically linked to the sustained and high-quality development of national healthcare initiatives.Cultivating outstanding medi-cal students with independent scientific capabilities and innovative consciousness is a critical component in the education and training of high-level medical professionals.Our investigation revealed that within the imperfections of the cultivating model,some faculty and students at medical schools have an insufficient understanding of scientific research and innovation and lack motivation for engaging in such activities,which hinder the progression of scientific research activities.Consequently,we initiated a teaching practice and exploratory study on the"tutorial system"aimed at fostering medical students'scientific research and innovation abilities.Based on the principle of"research informing teaching,teaching and research advan-cing together,"this study implements a"tutorial system"coordinated by tutors,supplemented by graduate and undergraduate student mentors,to cultivate innovative thinking,stimulate interest in scientific re-search,and enhance practical and research skills among medical students.Through collaborative efforts within"scientific research innovation teams,"various educational methods—including preliminary re-search,in-class and extracurricular activities,intra-group and inter-group interactions,and theoretical and practical applications—are employed to improve and strengthen the cultivation of medical students'scientif-ic research and innovation abilities.This study aims to provide valuable references for optimizing medical education management systems and enhancing the quality of medical student training.

Objective:To explore the potential prognostic value of the HAMP(hepcidin)gene in gastric adenocarci-noma and its correlation with immune infiltration in gastric cancer.Methods:This study systematically analyzed the ex-pression characteristics of the HAMP gene using bioinformatics approaches based on mRNA data from 448 gastric ad-enocarcinoma tissues and non-tumor tissues in the TCGA database.Firstly,the cBioPortal platform was employed to analyze the genetic variation features of the HAMP gene,and the LinkedOmics database was used to evaluate the corre-lation between its methylation status and expression levels.Kaplan-Meier survival analysis with log-rank test was per-formed to assess the relationship between HAMP expression levels and patient prognosis.Furthermore,by integrating TIMER2.0 and TISIDB databases,we systematically evaluated the correlation between HAMP expression and immune-related genes as well as immune cell infiltration.Gene Set Enrichment Analysis(GSEA)was conducted to investigate HAMP-associated signaling pathway characteristics.Finally,STRING and Gepia databases were utilized to construct a protein-protein interaction network of HAMP and identify core interacting genes,comprehensively evaluating the role of HAMP in immune infiltration in gastric adenocarcinoma.Results:The expression level of HAMP was significantly higher in gastric adenocarcinoma tissues compared to normal tissues(P<0.01),and its elevated expression was strongly associ-ated with poor patient prognosis,manifested by significantly shorter overall survival(OS),progression-free survival(PFS),and post-progression survival(PPS)(all P<0.05).Genomic analysis revealed that HAMP mutations in gastric cancer were predominantly amplification-type,and its methylation level showed a positive correlation with mRNA expression(r=0.14,P<0.001).Immunological analysis demonstrated that high HAMP expression was significantly correlated with multiple key immune checkpoint molecules(PD-1:rho=0.274;PD-L1:rho=0.211;CTLA-4:rho=0.199,all P<0.001)and immune cell infiltration(dendritic cells:r=0.548;macrophages:r=0.414;neutrophils:r=0.374,all P<0.001).Pathway enrichment analy-sis indicated that the high HAMP expression group was significantly enriched in immune-related pathways including anti-gen presentation and NK cell-mediated cytotoxicity.Furthermore,protein-protein interaction network analysis identified core interacting genes such as TREM2 and TYROBP,suggesting that HAMP may participate in tumor immune regulation through specific molecular networks.Conclusion:HAMP is highly expressed in gastric cancer,and its high expression significantly reduces the survival time of gastric adenocarcinoma patients,demonstrating prognostic value.HAMP ex-pression is positively correlated with most immune-related genes in STAD and significantly associated with the abun-dance of multiple immune cell infiltration levels,serving as an independent prognostic factor related to immune infiltration.

OBJECTIVE: To investigate the relationship between serum levels of fibroblast growth factor-23 (FGF-23), heparanase (HPSE) and early renal impairment (RI) in patients with multiple myeloma (MM). METHODS: A retrospective analysis was conducted on the clinical data of 125 MM patients who were initially diagnosed in the Department of Hematology of the First Affiliated Hospital of Baotou Medical College, Inner Mongolia University of Science and Technology from June 2020 to June 2023. The patients were divided into RI group (>176.80 μmol/L) and non-RI group (≤176.80 μmol/L) based on their serum creatinine levels when diagnosed. The baseline data and laboratory indexes of the two groups were compared. The relationship between serum FGF-23, HPSE and early RI in MM patients was analyzed. RESULTS: Among 125 newly diagnosed MM patients, 33 cases developed early RI, accounting for 26.40%. The proportion of light chain type, blood urea nitrogen (BUN), blood uric acid, lactate dehydrogenase, FGF-23, and HPSE levels in RI group were higher than those in non-RI group (all P <0.05). There was no statistical significant difference in other data between the two groups (P >0.05). Multivariate logistic regression analysis showed that BUN, FGF-23 and HPSE were associated with early RI in MM patients (all P <0.05). The serum FGF-23 level was divided into Q1-Q4 groups by quartile, and the serum HPSE level was divided into q1-q4 groups. The correlation analysis showed that with the increase of serum FGF-23 and HPSE levels, the incidence of early RI increased (r =0.668, 0.592). Furthermore, logistic regression analysis showed that after controlling for confounding factors, elevated levels of serum FGF-23 and HPSE were still influencing factors for early RI in MM patients (OR>1, P <0.05). According to Pearson's linear correlation test, there was a positive correlation between serum FGF-23 level and HPSE level (r =0.373). CONCLUSION There is a certain correlation between serum levels of FGF-23, HPSE and early RI in MM patients, and the incidence of early RI is higher in patients with abnormally high levels of both.
Humans ; Multiple Myeloma/complications* ; Fibroblast Growth Factor-23 ; Retrospective Studies ; Fibroblast Growth Factors/blood* ; Glucuronidase/blood* ; Male ; Female ; Middle Aged ; Renal Insufficiency/blood* ; Aged

OBJECTIVE: To observe the efficacy and safety of 21-day venetoclax (VEN) plus azacitidine (AZA) (21-day VA) in newly diagnosed unfit acute myeloid leukemia (AML) patients in the real-world. METHODS: The clinical data of patients with unfit-AML who received 21-day VA regimen from December 2020 to July 2024 in our center and completed at least 1 cycle of therapeutic effect assessment was retrospectively collected to analyze the safety, efficacy and its influencing factors. RESULTS: A total of 59 patients were enrolled in our study, with a median age of 67(48-87) years old. After 1 cycle of therapy, the composite complete remission (cCR) rate was 74.5%, 54.2% of cases were negative for minimal residual disease (MRD). Among them, the MRD negative rate of patients with NPM1 mutation was significantly higher than that of patients without NPM1 mutation ( P =0.032). The median follow-up of patients was 19(2-38) months, the best cCR and MRD negative rates were 78% and 64.4%, respectively, the median overall survival (OS) time was 12 months, and the median progression free survival (PFS) time was 5 months. Multivariate Cox regression analysis showed less than 4 cycles of VA chemotherapy were independent risk factor for PFS and OS ( P < 0.05). After achieving remission, anemia and thrombocytopenia improved with the increase of the number of chemotherapy cycle. CONCLUSION In real-world, 21-day VA regimen still shows significant efficacy in the treatment of newly diagnosed unfit-AML, without adversely affecting remission rate and MRD negative rate of the first cycle.
Humans ; Leukemia, Myeloid, Acute/drug therapy* ; Aged ; Middle Aged ; Bridged Bicyclo Compounds, Heterocyclic/therapeutic use* ; Sulfonamides/therapeutic use* ; Azacitidine/therapeutic use* ; Aged, 80 and over ; Male ; Female ; Retrospective Studies ; Nucleophosmin ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use* ; Remission Induction ; Mutation ; Treatment Outcome