ObjectiveTo investigate the association between endothelin receptor type A gene （EDNRA） and congenital bilateral absence of the vas deferens （CBAVD）. MethodsThis case-control study consisted of 124 subjects with CBAVD and 100 fertile controls.Two single nucleotide polymorphisms （SNPs： rs5335 and rs1801708） in the EDNRA gene were genotyped via PCR， PCR-RFLP analysis， and direct sequencing. ResultsNo significant differences existed between EDNRA polymorphisms and CBAVD phenotype （rs1801708： P=0.220 2， 0.163 2； rs5335： P=0.805 8， 0.818 6）. However， the rs1801708-rs5335 haplotype AG was notably associated with an increased risk of CBAVD （P=0.008 6， OR=2.178， 95% CI： 1.207-3.929）. A significantly protective effect of rs1801708-rs5335 haplotype GG on CBAVD （P=0.038 5， OR= 0.671， 95% CI： 0.460-0.980） was observed. After Bonferroni correction， the result for haplotype A-G remained significant （P =0.008 6<0.012 5）， while haplotype G-G was not significant. ConclusionThe rs1801708-rs5335 AG haplotype of EDNRA is a potential risk factor for CBAVD development in Han Chinese.

A case of Sifrim-Hitz-Weiss syndrome(Sifrim-Hitz-Weiss syndrome,SIHIWES)is presented.The patient was a 35-year-old male with cryptorchidism,growth retardation,skeletal malformations,muscular atrophy,a wide forehead,special facial features like square face,small low-set and cup-shaped ears since birth.Whole-exon sequencing identified a heterozygous mutation(NM_001273:c.3047A>G(chr12-6701125)(p.K1016R))in CHD4 gene.The clinical significance of this mutation is currently unknown,and has not been previously reported.In light of the patient's symptoms,the case was diagnosed as Sifrim-Hitz-Weiss syndrome.This case represents the first instance of Sifrim-Hitz-Weiss syndrome in an adult patient in China.

To investigate the malignant progression and molecular mechanism of KHSRP regulating esophageal squamous cell carcinoma(ESCC) through the JAK1/STAT3 signaling axis.

Objective To study the medication law of Professor Wang Zhongyi in the treatment of tic disorder(TD)based on data mining technology.Methods From January 1,2022 to December 31,2023,the cases treated for TD in Professor Wang Zhongyi's outpatient clinic,which participated in the real-world study were collected.A comprehensive database has been established,screening information related to effective case diagnosis and treatment.Utilizing Excel 2021,R 4.4.2,Origin 2024 and Cytoscape 3.9.1,this study conducted medication frequency analysis,property-flavor-meridian tropism analysis,efficacy analysis,association rule analysis,clustering analysis and co-occurrence network analysis to summarize medication law.Results Totally 640 effective prescriptions were included,involving 208 kinds of Chinese materia medica.The properties were mainly warm,cold,and neutral.The flavors were mainly pungent,bitter and sweet.The meridians were mainly liver meridians.The therapeutic categories were primarily composed of liver-calming and endogenous wind-stopping drugs,along with exterior-resolving prescriptions.Correlation analysis obtained 17 strongly correlated rules.Clustering analysis obtained 5 types of medicinal combinations.The therapeutic categories were primarily composed of liver-calming and endogenous wind-stopping drugs,along with exterior-resolving prescriptions.Conclusion According to the comprehensive statistical analysis,Uncariae Ramulus cum Uncis,Gastrodiae Rhizoma,Haliotidos Concha,Paeoniae Radix alba,Bupleuri Radix,Puerariae Lobatue Radix and Scorpio are the core drugs used by Professor Wang Zhongyi to treat TD.Professor Wang Zhongyi believes that the core pathogenesis of TD is the internal movement of liver wind,and the treatment mainly focuses on calming the liver,calming the wind and stopping spasms,while also nourishing the heart,calming the mind,harmonizing blood and relieving qi.Based on different clinical symptoms of TD,modifications and adjustments are made to the core prescription to treat children with TD.

A case of Sifrim-Hitz-Weiss syndrome(Sifrim-Hitz-Weiss syndrome,SIHIWES)is presented.The patient was a 35-year-old male with cryptorchidism,growth retardation,skeletal malformations,muscular atrophy,a wide forehead,special facial features like square face,small low-set and cup-shaped ears since birth.Whole-exon sequencing identified a heterozygous mutation(NM_001273:c.3047A>G(chr12-6701125)(p.K1016R))in CHD4 gene.The clinical significance of this mutation is currently unknown,and has not been previously reported.In light of the patient's symptoms,the case was diagnosed as Sifrim-Hitz-Weiss syndrome.This case represents the first instance of Sifrim-Hitz-Weiss syndrome in an adult patient in China.

Objective To study the medication law of Professor Wang Zhongyi in the treatment of tic disorder(TD)based on data mining technology.Methods From January 1,2022 to December 31,2023,the cases treated for TD in Professor Wang Zhongyi's outpatient clinic,which participated in the real-world study were collected.A comprehensive database has been established,screening information related to effective case diagnosis and treatment.Utilizing Excel 2021,R 4.4.2,Origin 2024 and Cytoscape 3.9.1,this study conducted medication frequency analysis,property-flavor-meridian tropism analysis,efficacy analysis,association rule analysis,clustering analysis and co-occurrence network analysis to summarize medication law.Results Totally 640 effective prescriptions were included,involving 208 kinds of Chinese materia medica.The properties were mainly warm,cold,and neutral.The flavors were mainly pungent,bitter and sweet.The meridians were mainly liver meridians.The therapeutic categories were primarily composed of liver-calming and endogenous wind-stopping drugs,along with exterior-resolving prescriptions.Correlation analysis obtained 17 strongly correlated rules.Clustering analysis obtained 5 types of medicinal combinations.The therapeutic categories were primarily composed of liver-calming and endogenous wind-stopping drugs,along with exterior-resolving prescriptions.Conclusion According to the comprehensive statistical analysis,Uncariae Ramulus cum Uncis,Gastrodiae Rhizoma,Haliotidos Concha,Paeoniae Radix alba,Bupleuri Radix,Puerariae Lobatue Radix and Scorpio are the core drugs used by Professor Wang Zhongyi to treat TD.Professor Wang Zhongyi believes that the core pathogenesis of TD is the internal movement of liver wind,and the treatment mainly focuses on calming the liver,calming the wind and stopping spasms,while also nourishing the heart,calming the mind,harmonizing blood and relieving qi.Based on different clinical symptoms of TD,modifications and adjustments are made to the core prescription to treat children with TD.

【Objective】 To explore the risk factors for the production of anti-HLA antibodies in patients with hematological diseases before hematopoietic stemcell transplantation. 【Methods】 The results and clinical data of 1 008 patients with hematological diseases in our hospital who underwent anti-HLA antibody testing were collected by using Luminex technology platform before transplantation from 2016 to 2018 for statistical analysis. 【Results】 The total positive rate of anti-HLA antibodies in 1 008 patients was 24.08%. Multivariate analysis showed that independent risk factors associated with the production of anti-HLA antibodies included age≥30 years old(P=0.046, OR1.467, 95%CI1.007-2.136), time from disease diagnosis to antibody testing≥41 days(P=0.000, OR1.830, 95%CI1.306-2.565), initial platelet count<20×10⁹/L(P=0.020, OR1.543, 95%CI1.072-2.220), prior pregnancy(P=0.000, OR5.187, 95%CI3.689-7.293), transfusions before admission(P=0.001, OR1.762, 95%CI1.257-2.470)and total platelet transfusion volumes after admission≥30 U(P=0.000, OR2.352, 95%CI1.638-3.376). Age ≥30 years old(P=0.023, OR=1.839, 95%CI1.088-3.108)and prior pregnancy(P=0.042, OR=5.258, 95%CI1.062-26.038)are associated with the production of anti-HLA class Ⅰ and class Ⅱ antibodies, respectively. The time from disease diagnosis to antibody testing≥41 days(P=0.000, OR=2.873, 95%CI1.612-5.119), initial platelet count<20×10⁹/L(P=0.008, OR=2.164, 95%CI1.225-3.822), prior pregnancy(P=0.002, OR=6.734, 95%CI1.993-22.751), transfusions before admission(P=0.001, OR=2.746, 95%CI1.531-4.925)and total platelet transfusion volumes after admission>30 U(P=0.006, OR=3.459, 95%CI1.416-8.451)are associated with the production of anti-HLA class Ⅰ and Ⅱ antibodies. 【Conclusion】 Older age, longer course of disease, lower PLT count, history of pregnancy and blood transfusion, and higher total amount of PLT transfusion are risk factors which affect the production of anti-HLA antibodies.Therefore, it is advisable to test for anti-HLA antibodies according to the situation before transplantation, which is of great value in guiding donor selection, monitoring antibody changes and improving transplant prognosis.

Objective It constructs a new culture index system for high-quality development of public hospitals to provide scientific tool for evaluating the level of new culture construction of public hospitals and promoting high-quali-ty development.Methods A pool of indicators was established based on policy combing and literature research.Then,an indicator system was formed through Delphi expert consultation and demonstration,and weighting coefficients were assigned using the hierarchical analysis method.Results The indicator system of the new culture in public hospi-tals contains four primary indicators,eight secondary indicators and 23 specific entries.The four primary indicators are hospital culture system construction,strengthening the orientation of patients'needs,caring for medical staff and distinctive hospital culture.The effectiveness of implementation as an additional dimension contains two secondary indicators and eight specific entries.The weights of the primary indicators are balanced.Among the sec-ondary indicators,institutional planning(0.250),staff care(0.170),medical services(0.130),discipline branding(0.125)and professionalism(0.125)have higher weights.Conclusion The new culture index system for high-quality development of public hospitals is in line with Xi Jinping's cultural thought and the requirements of the new culture for high-quality development of public hospitals.It needs to pay attention to the planning of the cultural system,em-phasises the care of employees and the cultivation of professionalism,and focuses on the construction of medical services and disciplinary brands,so as to promote the construction of the new culture in public hospitals in line with the requirements of the national strategies.

Objective It constructs a new culture index system for high-quality development of public hospitals to provide scientific tool for evaluating the level of new culture construction of public hospitals and promoting high-quali-ty development.Methods A pool of indicators was established based on policy combing and literature research.Then,an indicator system was formed through Delphi expert consultation and demonstration,and weighting coefficients were assigned using the hierarchical analysis method.Results The indicator system of the new culture in public hospi-tals contains four primary indicators,eight secondary indicators and 23 specific entries.The four primary indicators are hospital culture system construction,strengthening the orientation of patients'needs,caring for medical staff and distinctive hospital culture.The effectiveness of implementation as an additional dimension contains two secondary indicators and eight specific entries.The weights of the primary indicators are balanced.Among the sec-ondary indicators,institutional planning(0.250),staff care(0.170),medical services(0.130),discipline branding(0.125)and professionalism(0.125)have higher weights.Conclusion The new culture index system for high-quality development of public hospitals is in line with Xi Jinping's cultural thought and the requirements of the new culture for high-quality development of public hospitals.It needs to pay attention to the planning of the cultural system,em-phasises the care of employees and the cultivation of professionalism,and focuses on the construction of medical services and disciplinary brands,so as to promote the construction of the new culture in public hospitals in line with the requirements of the national strategies.