Objective To study the frequency of cystic fibrosis transmembrane conductance regulator(CFTR)mutations in patients with congenital bilateral absence of vas deferens(CBAVD).Methods Eighty-five CBAVD patients were collected from May 2007 to May 2009.The diagnosis of CBAVD included azoospermia,normal of 4 sex hormone items,absence of seminal vesicle,normal volume of testicular and epididymis dilated siltation.And 85 normal fertile men served as controls.Genomic DNA was isolated from peripheral blood.The mutations of CFTR exons 10,11 were detected by PCR-single strand conformation polymorphism,and direct sequencing was performed on 85 cases of CBAVD and the control males.Results Of the 85 CBAVD,10 cases(11.8％)exhibited an abnormal CFTR gene mutation,with 4 cases I556V,2 cases M469V,and 1 case of E527N,A F508,L558S,S485C.No mutations were detected in 85 controls.There was a significant difference between the 2 groups(x2 =8.606,P =0.003).Conclusions CBAVD might be caused by the CFTR mutations.The frequencies and the spectrum of CFTR mutations might be different from those Caucasian population in the west country.

Objective:To explore the Epstein-Barr virus (EBV) latent infection membrane protein (LMP) 1 or LMP2 specific T cell immune response and clinical significance in stage III-IVa nasopharyngeal carcinoma (NPC), aiming to provide ideas and evidence for immunotherapy in NPC.Methods:Fifty-nine NPC patients admitted to the Affiliated Tumor Hospital of Xinjiang Medical University from February 2018 to October 2020 for primary treatment were collected. Peripheral blood monocytes (PBMCs) were stimulated by LMP antigen. Intracellular cytokine staining and flow cytometry were applied to study the expression levels of IL-2, IL-13, interferon-γ (IFN-γ) and tumor necrosis factor-α (TNF-α) from CD4 + T and CD8 + T cells, and then analyzed in conjunction with clinical factors. Results:The positive rates of total PBMCs to LMP1 and LMP2 in NPC patients were different. The positive rate of LMP1 specific CD4 + T cells was statistically higher in stage T 3-T 4 NPC than that in stage T 1-T 2 (51.0% vs. 10.0%, P=0.042). There were also differences in the expression of cytokines between LMP1 and LMP2, CD4 +T cells and CD8 +T cells. Survival analysis showed the 2-year and 3-year overall survival (OS) rates were 91.5% and 88.2%, and the 2-year and 3-year progression-free survival (PFS) rates were 83.3% and 75.3%. Univariate analysis suggested that smoking history, male and LMP1 stimulated IL-13 positive expression in CD4 + T cells affected the disease progression ( P=0.026, 0.045 and 0.006); multivariate analysis showed LMP1 stimulated IL-13 positive expression in CD4 + T cells and smoking history were the independent prognostic factors affecting PFS ( P=0.017, 0.019). Conclusions:LMP1 and LMP2 generate specific T-cell immune response in PBMCs of NPC patients, with differential expression in two T-cell subsets. LMP1 and LMP2 specific T cell immune response is associated with primary tumor size and metastatic lymph node volume. LMP1 stimulated IL-13 positive expression in CD4 + T cells and smoking history affects the disease progression.

Objectives:To analyze the efficacy and safety of drug coated balloon for coronary de novo lesions in real world. Methods:We enrolled consecutive patients with coronary de novo lesions treated with drug coated balloons from January 2020 to June 2021 in Fuwai Hospital.The baseline data,procedure data and in-hospital cardiac events were collected through case query.All patients were followed up by clinical visit or telephone call.Major adverse cardiac events(MACE)were defined as the composite of the cardiac death,acute myocardial infarction,target lesion revascularization.According to the diameter of the blood vessels,the patients are divided into the large vessel lesion group(vessel diameter≥2.75 mm,n=337),and the small vessel lesion group(vessel diameter<2.75 mm,n=575). Results:There were 940 coronary de novo lesions in 912 patients.A total of 974 drug balloons were used,average diameter was(2.6±0.8)mm,average length was(21.0±6.0)mm,average pressure was(10.0±3.8)atm.Among the 940 primary coronary artery lesions,343 lesions had a diameter≥2.75 mm,and 597 lesions had a diameter<2.75 mm.During hospitalization,two patients with acute ST-segment elevation myocardial infarction died of cardiac rupture after emergency coronary interventional treatment,acute vessel closure because of coronary hematoma occurred in 1 patient and bailout drug-eluting stent was used in this patient,five patients received salvage stent treatment due to type C dissection immediately after drug coated balloon treatment.During follow-up,Target lesion revascularization(TLR)occurred in 15(1.6%)patients(including coronary artery bypass grafting in 1 patient).Nonfatal acute myocardial infarction occurred in 1 patient,cardiac death occurred in 1 patient,2 patients died of cerebral hemorrhage,1 patient died of cerebral infarction,MACE rate was 1.9%(17/912).MACE rate during follow-up was similar between large vessels group and small vessels group(1.8%vs.1.9%,P>0.05). Conclusions:Our study indicates that drug coated balloon for coronary de novo lesion is safe and effective.There is no difference of MACE rate between large vessel group and small vessel group.

Objectives:To evaluate the efficacy and safety of drug-coated balloon in the treatment of de novo coronary chronic occlusive lesions. Methods:Consecutive patients with de novo coronary chronic occlusive lesions treated with drug-coated balloons only were included in this study.The general information,medical history,and surgical information of the patients were recorded,and major adverse cardiovascular events(MACE,including cardiac death,myocardial infarction,and target vessel revascularization)were recorded by telephone or outpatient follow-up. Results:A total of 160 patients were included.There were 26 ostial lesions(16.3%),42 bifurcated lesions(26.3%),117 diffuse lesions(73.1%),and 87 calcified lesions(54.4%).The reference vessel diameter was(2.3±0.4)mm.During hospitalization,there were no acute myocardial infarction,cardiac death,target lesion revascularization,or acute coronary thrombosis.Cardiac death occurred in 1 case and target vessel revascularization occurred in 6 cases during follow-up.The MACE rate is 4.4%. Conclusions:Drug balloon therapy for de novo coronary chronic occlusive lesions is safe and effective,and the prognosis is satisfactory.