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OBJECTIVE@#To analyze the clinical phenotype and genetic characteristics of a patient with Alport syndrome.@*METHODS@#A patient with Alport syndrome who had visited the First Affiliated Hospital of Zhengzhou University in November 2020 was selected as the study subject. Clinical data of the patient were collected. High-throughput sequencing was carried out to detect potential variant of the COL4A3, COL4A4 and COL4A5 genes, and Sanger sequencing was carried out for verification of candidate variants in the family.@*RESULTS@#The main clinical manifestations of the patient included hematuria, proteinuria, and impaired hearing. Audiometric testing suggested symmetrical cochlear sensory neural hearing loss on both sides. Renal biopsy revealed mild mesangial proliferative glomerulonephritis. Genetic testing revealed that the patient has harbored compound heterozygous variants of the COL4A4 gene, namely c.940G>A (p.Gly314Ser) and c.3773G>A (p.Gly1258Asp), which were respectively inherited from her father and mother. Neither variant has been reported before, and were predicted to be pathogenic based on the guidelines from the American College of Medical Genetics and Genomics.@*CONCLUSION@#The c.940G>A (p.Gly314Ser) and c.3773G>A (p.Gly1258Asp) compound heterozygous variants of the COL4A4 gene probably underlay the Alport syndrome in this patient. Above finding has enriched the mutational spectrum of the COL4A4 gene.
Subject(s)
Female , Humans , Nephritis, Hereditary/genetics , Hematuria , Genetic Testing , Genomics , Hearing , Collagen Type IV/geneticsABSTRACT
Objective:To investigate the impacts of hierarchical management based on medical alliance on the patency of arteriovenous graft (AVG),and provide a basis for further exploration of optimal AVG management.Methods:In this retrospective cohort study, clinical and follow-up data of patients with AVG established in the First Affiliated Hospital of Zhengzhou University from January 1, 2018 to December 31, 2021 were analyzed. Patients were divided into medical alliance group and non-medical alliance group according to whether they were under hierarchical management model, and the patency rate of AVGs and the incidence of clinical events were compared between the two groups.Results:A total of 328 AVGs were included in this study, which were from 151 hemodialysis centers, including 189 AVGs (57.6%) from 72 centers in medical alliance group, and 139 AVGs (42.4%) from 79 centers in non-medical alliance group. The age of the patients was (55.57±11.80) years, among whom 130 (39.6%) were males and 126 (38.4%) were diabetic. The follow-up time of AVGs in this cohort was 15.5 (9.5, 26.2) months, with 15.4 (9.8, 25.2) months in medical alliance group and 15.5 (9.2, 27.3) months in non-medical alliance group. The incidence of thrombosis or occlusion (0.328 times/patient-year), graft dissection (0.007 times/patient-year), graft infection (0.030 times/patient-year), and catheter utilization (0.043 times/patient-year) in the medical alliance group were lower than those in the non-medical alliance group (0.589 times/patient-year, 0.040 times/patient-year, 0.054 times/patient-year and 0.147 times/patient-year, respectively), and there was no significant difference in clinic follow-up rates between the two group (1.91 times/patient-year vs. 1.94 times/patient-year). The median primary patency time was 17.4 (95% CI 11.3-23.5) months, the median primary assisted patency time was 32.6 (95% CI 25.0-40.2) months, and the median secondary patency time was 47.9 (95% CI 40.0-55.8) months in the medical alliance group, compared with 12.3 (95% CI 9.4-15.2) months, 19.4 (95% CI 14.3-24.5) months, and 34.6 (95% CI 29.3-39.9) months in the non-medical alliance group, respectively. Primary patency were significantly higher in the medical alliance group (77.4%, 62.2%, 39.9%, and 26.6%) than those in the non-medical alliance group (71.1%, 50.1%, 30.6%, and 13.4%) at 6, 12, 24, and 36 months (Log-rank test, χ2=4.504, P=0.034). Primary assisted patency were significantly higher in the medical alliance group (90.9%, 84.3%, 67.1%, and 46.1%) than those in the non-medical alliance group (89.2%, 75.7%, 42.0%, and 16.6%) at 6, 12, 24, and 36 months (Log-rank test, χ2=10.655, P=0.001). Secondary patency were significantly higher in the medical alliance group (96.8%, 91.8%, 84.2%, and 74.0%) than those in the non-medical alliance group (89.9%, 85.8%, 69.3%, and 47.5%) at 6, 12, 24, and 36 months (Log-rank test, χ2=11.634, P=0.001). Multivariate Cox regression analysis showed that it was a protective factor for primary patency ( HR=0.708, 95% CI 0.512-0.980, P=0.037), primary assisted patency ( HR=0.506, 95% CI 0.342-0.749, P=0.001) and secondary patency ( HR=0.432, 95% CI 0.261-0.716, P=0.001) under the medical alliance model. Conclusion:The hierarchical management based on medical alliances can improve the patency of AVGs and reduce the incidence of clinical events.
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Objective:To investigate the patency rates and risk factors of arteriovenous graft (AVG), and provide a clinical guidance for further optimization of vascular access selection and improvement of dialysis quality.Methods:This was a retrospective study. The clinical and follow-up data of patients who received AVG in the Blood Purification Center, First Affiliated Hospital of Zhengzhou University from January 1, 2017 to December 31, 2021 were selected. Kaplan-Meier curve and Cox regression model were used to analyze the patency rates and risk factors of AVG.Results:A total of 381 cases with AVG were included, with 154 cases (40.4%) of males, age of (55.5±11.8) years old, and 140 cases (36.7%) of diabetes. The median time of primary patency was 377.00(95% CI 314.26-439.74) days, and the primary patency rates at 1, 2, and 3 years were 51.0%, 30.7%, and 15.4%, respectively. The median time of primary assisted patency was 839.00(95% CI 668.89-1 009.11) days, and the primary assisted patency rates at 1, 2, and 3 years were 78.3%, 56.4%, and 39.1%, respectively. The secondary patency rates at 1, 2, and 3 years were 96.7%, 90.1%, and 78.5%, respectively. Multivariate Cox regression analysis results showed that anastomotic vein types of basilic vein and cephalic vein (median cubital vein as a reference, HR=1.869, 95% CI 1.124-3.107, P=0.016; HR=2.110, 95% CI 1.176-3.786, P=0.012) and the diameter of anastomotic vein<3.5 mm ( HR=1.411, 95% CI 1.020-1.952, P=0.037) were the independent influencing factors for abnormal primary patency of AVG. Males ( HR=1.680, 95% CI 1.127-2.503, P=0.011), mean arterial pressure<70 mmHg ( HR=3.228, 95% CI 1.109-9.394, P=0.032), Acuseal graft type (Intering as a reference, HR=1.884, 95% CI 1.185-2.994, P=0.007), anastomotic vein type of cephalic vein (median cubital vein as a reference, HR=2.817, 95% CI 1.328-5.977, P=0.007), the diameter of anastomotic vein<3.5 mm ( HR=1.555, 95% CI 1.048-2.306, P=0.028), serum phosphorus ≤1.78 mmol/L (1.13-1.78 mmol/L />1.78 mmol/L, HR=1.737, 95% CI 1.111-2.716, P=0.015;<1.13 mmol/L />1.78 mmol/L, HR=2.162, 95% CI 1.072- 4.362, P=0.031), and ferritin<200 μg/L ( HR=1.850, 95% CI 1.231-2.780, P=0.003) were the independent influencing factors for abnormal primary assisted patency of AVG. Serum albumin<40 g/L ( HR=2.165, 95% CI 1.096-4.275, P=0.026) was an independent influencing factor for abnormal secondary patency of AVG. Conclusions:The primary patency rates of AVG at 1, 2, and 3 years were 51.0%, 30.7%, and 15.4%, respectively. The secondary patency rates of AVG at 1, 2, and 3 years were 96.7%, 90.1%, and 78.5%, respectively. Anastomotic vein types of cephalic vein and basilic vein, and internal diameter<3.5 mm are the independent risk factors for abnormal primary patency of AVG. Anastomotic vein type of cephalic vein and internal diameter<3.5 mm are the independent risk factors for abnormal assisted primary patency of AVG. Serum albumin<40 g/L is an independent risk factor for abnormal secondary patency of AVG. It is suggested that systematic preoperative evaluation and good nutritional status of patients are important to maintain long-term patency of the AVG.
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Objective To investigate the level and influencing factors of self-efficacy among nurses with needlestick injuries and explore effective strategies to improve self-efficacy.Methods 713 clinical nurses with needlestick injuries had been enrolled by convenience and stratified sampling method to comphte the investigation using the self-designed demographic questionnaire and General Self-Efficacy Scale.Results The average score of the self-efficacy was (2.70 ±0.52) points.69.1% of the needlestick injury nurses had the sclf-efficacy score at the middle level; only 19.1% of them had a higher level score on self-efficacy.Gender,title,section,initiative report,work environment,and occupational safety training were identified as the influencing factors of the self-efficiency.Conclusions Even though more than half of the nurses with needlestick injuries had a middle level self-efficacy,they need further improvement.Other influencing factors should be explored in future in order to develop the corresponding management intervention which can strengthen the self-efficacy of nurses with needlestick injuries.
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Objective To understand the status quo of knowledge,attitude and practice of clinical nurses’ needlesrick injury (NSI) prevention and its influencing factors.Methods In our cross-sectional study,1020 clinical nurses in different levels of hospitals in Suzhou were recruited to participate the questionnaire survey by stratified cluster sampling.Results The average scores of knowledge,attitude,and practice about NSI prevention were (78.60+15.30),(78.88+8.31) and (70.60+13.86),individually.There was significant correlation among knowledge,attitude and practice.Stepwise regression analysis indicated that knowledge,occupational safety training,section,attitude,rifle,work environment and the level of hospital were the main influencing factors of NSI prevention practice.Condusions NSI prevention knowledge,attitude and practice among clinical nurses are unsatisfactory.Nursing administrators should pay close attention to the nursing staffs’ need of NSI prevention knowledge and provide targeted education to promote the formation of positive attitude,correct bad behaviors and promote healthy behaviors of NSI prevention.