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 measure and analyse maxillofacial skeletal morphology based on the 3D model by Mimics and Matlab soft-ware.Methods:140 male volunteers aged 18-37 years,99 of Han,32 of Uygur and 9 of other natinalities were included.The values of maxillofacial skeletal morphology were measured by Mimics software combined with Matlab software after CT scanning.The data of skeletal morphologic features among skeletal classⅠ,Ⅱ and Ⅲ and among the ethnic groups were analysed with SPSS 26.0 software.Results:The distribution of skeletal class showed that there were 83 cases(59.3％)of class Ⅰ,41(29.3％)of class Ⅱ and 16(11％)of class Ⅲ.There were no significant differences on the age,height,nasal bone length,nasal bone depth,maxillary width,maxillary height,mandibular symphysis height,condylion distance and gonion distance among the 3 skeletal groups(P＞0.05).Skeletal class Ⅱshowed a significant shorter mandibular ramus,mandibular body and entire mandibular length compared with class Ⅰ and class Ⅲ,while class Ⅱ had a significant longer palatal length and larger Me angle compared with class Ⅲ(P＜0.05).Skeletal class Ⅲ showed no significance differences of all dimensions compared with class Ⅰ(P＞0.05).The nasal bone depth of Han subjects was smaller than that of Uygur,while the length of the mandibular symphysis and the entire mandible of Han group were greater than that of Uygur group(P＜0.05).No correlation was observed between age and all facial skeletal dimensions respectively(P＞0.05).The ANB an-gle is negatively correlated with the mandibular body(r=-0.327)and mandibular length(r=-0.322)respectively.Conclusion:There was no significant difference in nasal bone,facial bone width and facial bone height among the 3 skeletal patterns.Class Ⅱhas a significant shorter mandibular ramus,mandibular body and entire mandibular length.Uygur young males have significantly greater nasal bone depth than Han.

AIM To investigate the ameliorative effects of Compound Fufangteng Mixture(CFM)on cyclophosphamide(CTX)-induced immunosuppression in mice.METHODS Forty-eight male C57BL/6J mice were randomly divided into the blank control group,the model group,the levamisole hydrochloride group(40 mg/kg)and the low-dose,medium-dose and high-dose CFM groups(3.75,7.5,10 g/kg),with 8 mice in each group,and given respective intervention orally once daily for 14 days.On the 5th to 7th day of administration,with the blank control group given normal saline intraperitoneally,the other groups underwent intraperitoneal CTX injections(80 mg/kg).24 hours after the last administration,organ indices of thymus and spleen were calculated;splenic histopathological alterations were assessed by HE staining;serum levels of IL-2,IL-6 and IgG were quantified using ELISA;splenic CD4+,CD8+T lymphocytes,alongside CD86+and CD206+macrophages populations were analyzed by flow cytometry;and splenic expression of CD4,CD8 and F4/80 was evaluated by immunohistochemical staining.RESULTS In CTX-treated mice,CFM administration mitigated body weight loss;enhanced thymus weight and thymic index;ameliorated splenic immune cell populations,elevated serum levels of cytokines IL-2,IL-6 and IgG in serum;and upregulated splenic levels of CD45+CD3+T lymphocytes and F4/80+CD11b+macrophages,alongside increasing the expression of CD4,CD8 and F4/80 surface markers.CONCLUSION CFM alleviates CTX-induced immunosuppression state in mice by modulating immune cells,restoring immune function and enhancing anti-inflammatory and tissue repair capabilities.

Objective:To evaluate the effect of robot-assisted laparoscopic technology via abdominal approach for patients with primary retroperitoneal tumors.Methods:A retrospective cohort analysis was conducted for the clinical data of 71 patients who underwent robot-assisted laparoscopic resection of primary retroperitoneal tumor via abdominal approach at the Department of Urology of Sir Run Run Shaw Hospital,Zhejiang University School of Medicine from January 2015 to December 2023. There were 35 male and 36 female patients. The age ( M(IQR)) was 56(21) years (range: 21 to 83 years). The median tumor diameter was 46 (31) mm (range: 15 to 134 mm). Postoperative pathology revealed 58 benign and 13 malignant cases. Patients were divided into non-adherent group ( n=47) and adherent group ( n=24) based on whether the tumor was adhered to major organs or vessels. Perioperative and postoperative situation were compared between the two groups. Data comparisons were conducted using independent samples t-test for normally distributed continuous variables, Mann-Whitney U tests for non-normally distributed data, χ2 test or Fisher′s exact test for categorical variables. Kaplan-Meier survival analysis was employed to estimate 3-year recurrence or metastasis rate and 3-year mortality rate. Results:Operative time was 120(60) minutes (range: 45 to 440 minutes), intraoperative blood loss was 50 (80) ml (range: 10 to 2 000 ml). The median change of intraoperative mean arterial pressure was 40 (19) mmHg(1 mmHg=0.133 kPa)(range: 10 to 112 mmHg). Intraoperative blood transfusion was required in 7 cases, whereas 64 cases did not necessitate transfusion. The change in hemoglobin levels before and after surgery was (17.9±13.6) g/L (range:-16 to 53 g/L), and the median change in serum creatinine levels was 2.0 (14.5) μmol/L (range:-71.0 to 100.4 μmol/L). Postoperative fasting duration was 2.0 (1.5) days (range: 1 to 6 days), and the median hospital stay was 10.0 (7.5) days (range: 4 to 24 days). No perioperative mortality occurred in any of the patients. The non-adherent group had shorter operation time, less estimated blood loss, lower blood transfusion rate, smaller delta value of hemoglobin before and after surgery, larger delta value of creatinine before and after surgery, fewer postoperative complications, shorter postoperative fasting time, and shorter length of hospital stay than the adherent group(all P<0.05), while there was no significant difference in mean arterial pressure fluctuation between the two groups ( P>0.05). Follow-up data were available for 69 patients, with a median follow-up duration of 39 (43) months (range: 4 to 88 months). Among these patients, 40 completed the 3-year follow-up. The 3-year recurrence or metastasis rate was 10.14%, and the 3-year mortality rate was 2.90%. Conclusions:Robot-assisted laparoscopic technology via abdominal approach for resection of primary retroperitoneal tumors is safe and feasible. It can also achieve secure surgical outcome for primary retroperitoneal tumors adherent to surrounding organs or vessels, albeit with increased surgical complexity and slower postoperative recovery compared to non-adherent cases.

Objective:To investigate the dosimetric advantages of deep inspiration breath-hold (DIBH) technique in postoperative radiotherapy for left-sided breast cancer.Methods:A prospective study was conducted on patients requiring adjuvant radiotherapy after left-sided breast cancer surgery at Jiangsu Cancer Hospital from January 2018 to May 2023. CT simulation images were acquired under both free breathing (FB) and DIBH respiratory modes. Planning target volumes (PTV) and organs at risk (OAR) were delineated, and dosimetric parameters were compared between the two respiratory modes. Additionally, patients were grouped into subgroups [internal mammary lymph node irradiation (IMNI) vs. non-IMNI, breast-conserving surgery (BCS) followed by radiotherapy vs. modified radical mastectomy (MRM) followed by radiotherapy], and dosimetric differences among subgroups for both breathing modes were compared. The Velocity system was used to measure the minimum distances from the heart and left anterior descending coronary artery (LAD) to the PTV surface on CT images. These distances were defined as the heart-to-PTV and LAD-to-PTV distances. Pearson correlation analysis was performed to assess the relationships between heart D max and LAD D max, heart-to-PTV distance and heart D mean, and LAD-to-PTV distance and LAD D max under both respiratory modes. Results:A total of 132 patients were included. Compared to the FB, DIBH showed no significant difference in target dose distribution, but significantly reduced dose to OAR. Specifically, the heart D mean and D max decreased by 1.8 Gy and 8.1 Gy, respectively, and the LAD D max decreased by 7.9 Gy, and the affected lung V 5 Gy and V 20 Gy were reduced by 6.4% and 2.5%, respectively (all P<0.05). All subgroups benefited from DIBH, with greater decrease of dose to OAR in the IMNI subgroup (compared with the non-IMNI subgroup) and the subgroup of MRM followed by radiotherapy (compared with the BCS followed by radiotherapy group). Under both FB and DIBH modes, heart D max and LAD D max showed linear correlations ( r=0.62 and 0.84, respectively; both P<0.001), heart-to-PTV distance correlated with heart D mean ( r=-0.61 and -0.67, respectively; both P<0.001), and LAD-to-PTV distance correlated with LAD D max ( r=-0.58 and -0.63, respectively; both P<0.001). Conclusions:The DIBH technique can significantly reduce dose to the heart, LAD, and lungs in patients undergoing postoperative radiotherapy for left-sided breast cancer without compromising target dose. Patients receiving IMNI after left-sided breast cancer surgery benefit more from the DIBH technique.

BACKGROUND:Foot position and seat height are important factors affecting "Sit-to-Stand",but most of the current research on "Sit-to-Stand" focuses on healthy people and Parkinson's disease patients. The kinematic and kinetic characteristics of the lower limbs of children with spastic cerebral palsy during the "Sit-to-Stand" task under different foot positions and seat heights are not known.OBJECTIVE:To investigate the effects of different foot positions and different seat height on lower limb kinematic and kinetic parameters during the "Sit-to-Stand" task in children with cerebral palsy. METHODS:Seven children with spastic cerebral palsy were selected as the research subjects. All subjects received the "Sit-to-Stand" test of six tasks,namely three seat heights (high,medium,and low stools) × two foot positions (front and back foot positions). The kinematic and dynamic data of children with cerebral palsy were collected under different foot positions and seat heights.RESULTS AND CONCLUSION:(1) The time characteristics results showed that the total time required for the children with cerebral palsy to perform the sit-to-stand transfer task was significantly smaller in the high stool condition compared to the low stool condition (P=0.046). (2) The kinetic results showed that at the moment of lifting,the knee flexion moment was significantly larger in the bipedal posterior condition than the bipedal anterior condition (P=0.049). The knee flexion moment was significantly smaller in the high stool condition compared to the medium stool condition (P<0.001). (3) It is concluded that raising the seat height and changing the foot position had an effect on the sit-to-stand transfer in children with spastic cerebral palsy. The children were able to perform the sit-to-stand maneuver with less motor compensation in the high-stool bipedal-rear position condition. Meanwhile,the high chair can be used as an aid to enhance the performance of sit-to-stand transfer in children with spastic cerebral palsy. The high stool bipedal hindfoot condition was the most effective in improving the sit-to-stand transfer in children with spastic cerebral palsy.

Objective:To measure and analyse maxillofacial skeletal morphology based on the 3D model by Mimics and Matlab soft-ware.Methods:140 male volunteers aged 18-37 years,99 of Han,32 of Uygur and 9 of other natinalities were included.The values of maxillofacial skeletal morphology were measured by Mimics software combined with Matlab software after CT scanning.The data of skeletal morphologic features among skeletal classⅠ,Ⅱ and Ⅲ and among the ethnic groups were analysed with SPSS 26.0 software.Results:The distribution of skeletal class showed that there were 83 cases(59.3％)of class Ⅰ,41(29.3％)of class Ⅱ and 16(11％)of class Ⅲ.There were no significant differences on the age,height,nasal bone length,nasal bone depth,maxillary width,maxillary height,mandibular symphysis height,condylion distance and gonion distance among the 3 skeletal groups(P＞0.05).Skeletal class Ⅱshowed a significant shorter mandibular ramus,mandibular body and entire mandibular length compared with class Ⅰ and class Ⅲ,while class Ⅱ had a significant longer palatal length and larger Me angle compared with class Ⅲ(P＜0.05).Skeletal class Ⅲ showed no significance differences of all dimensions compared with class Ⅰ(P＞0.05).The nasal bone depth of Han subjects was smaller than that of Uygur,while the length of the mandibular symphysis and the entire mandible of Han group were greater than that of Uygur group(P＜0.05).No correlation was observed between age and all facial skeletal dimensions respectively(P＞0.05).The ANB an-gle is negatively correlated with the mandibular body(r=-0.327)and mandibular length(r=-0.322)respectively.Conclusion:There was no significant difference in nasal bone,facial bone width and facial bone height among the 3 skeletal patterns.Class Ⅱhas a significant shorter mandibular ramus,mandibular body and entire mandibular length.Uygur young males have significantly greater nasal bone depth than Han.

Objective:To investigate the characteristics of Internet addiction(IA)in adolescents with depression and explore its relationship with impulsivity and aggressive personality traits.Methods:A total of 71 adolescent patients with depressive disorders were recruited from the Child Psychiatry Outpatient Clinic of Peking University Sixth Hospital between April 2021 and November 2022 (15 males, 56 females; median age 14 [13, 15] years) as the depressive disorder group. Additionally, 83 healthy adolescents (27 males, 56 females; median age 14 [13, 17] years) were recruited as the control group during the same period. Internet addiction was assed using the Chinese version of Young′s Internet Addiction Test (YIAT), with a total score≥50 indicating internet addiction. Impulsivity was evaluated using the Barratt Impulsiveness Scale-11(BIS-11), and aggression was measured with the Buss-Perry Aggression Questionnaire(BPAQ). Differences in internet addiction, impulsivity, and aggression between the depression group and the control group were analyzed. Pearson correlation analysis was used to explore the correlation between internet addiction and impulsivity, aggression. Hierarchical linear regression models were used to analyze the factors influencing internet addiction, and a parallel mediation model was used to examine the mediating effect of impulsivity and aggressive personality traits in the relationship between depressive disorders and internet addiction.Results:The prevalence of IA was significantly higher in adolescents with depression than the healthy control group [57.75%(41/71) vs 31.33%(26/83); χ 2=10.87, P<0.001]. Adolescents with depressive disorders also exhibited higher impulsivity (65.5±9.2 vs 57.0±9.2, t=-5.72, P<0.001) and aggression (56.3±16.0 vs 42.4±15.1, t=-5.13, P<0.001) compared to the control group. Internet addiction was positively correlated with aggression ( r=0.47, P<0.01) and impulsivity ( r=0.57, P<0.01). Hierarchical regression analysis with the YIAT total score as the dependent variable revealed that impulsivity ( β=0.48, P<0.001) and aggression ( β=0.24, P<0.001) significantly predicted internet addiction. Mediation analysis indicated that depressive disorders indirectly indirectly influenced internet addiction through parallel paths of impulsivity and aggression, with a total indirect effect of 0.543 (95% CI: 0.362-0.761). Conversely, internect addiction influenced depressive disorders through reverse parallel pathway of impulsivity and aggression with a total indirect effect of 0.038 (95% CI: 0.021-0.067). Direct effects were not significant in either direction. Conclusion:Adolescents with depressive disorders exhibit more internet addiction. Impulsivity and aggressive personality traits play bidirectional mediating roles in the relationship between depressive disorders and internet addiction.

Aim To explore the mechanism of Con-grong Shujing granule(CSGs)in the treatment of Par-kinson's disease(PD)by network pharmacology,mo-lecular docking and parallel reaction monitoring(PRM)technology.Methods The active components of CSGs and the target genes of Parkinson's disease were obtained through the database.The intersection targets of drugs and diseases were selected to construct the"drug-active ingredient-target"and protein interac-tion network.The intersection target genes were impor-ted into David database for GO and KEGG enrichment analysis,and the main components were docked with key targets.27 SD rats were randomly divided into the normal group(n=9),model group(n=9)and treat-ment group(n=9).On day 1,7 and 14 of treatment,PRM analysis was used to detect the changes in the specific peptides of key target proteins in the substantia nigra of rats.Results The main components of CSGs wereTanshialdehyde,Baicalein,Quercetin and Kaempferol.The most important targets for the treat-ment of PD were TP53,AKT1,EGFR,HSP90 AA1 and STAT3.KEGG analysis mainly enriched MAPK,PI3K-Akt and neurotrophic factor signaling pathway.The molecular docking between core components and core targets showed that the binding of drugs and targets had good activity.PRM analysis of key proteins found that the target peptide expression levels of ASK1,JNK1 and JNK3 were different among groups(P＜0.05).Con-clusion CSGs can alleviate ERS,inhibit apoptosis and play a neural protective role through the ASK1-JNK pathway.