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.
Female ; Humans ; Nephritis, Hereditary/genetics* ; Hematuria ; Genetic Testing ; Genomics ; Hearing ; Collagen Type IV/genetics*

Objective:To understand the psychological status and nursing needs of maintenance hemodialysis (MHD) patients and provide reference for clinical targeted nursing.Methods:Using the phenomenological research method, a total of 15 patients with MHD in the First Affiliated Hospital of Zhengzhou University were selected as the research objects by the purposive sampling method, and they were given semi-structured individualized interviews. The Colaizzi 7-step analysis method was used to organize the data, extract the inductive themes and analyze the results.Results:The psychological status of MHD patients was repressed fear, despair and helplessness and acceptance. The nursing needs of MHD patients included disease-related knowledge needs, social support needs and health guidance needs.Conclusions:MHD patients have negative psychology. Medical staff need to understand the psychological status and nursing needs of patients and formulate targeted nursing interventions to meet the actual needs of patients and improve the quality of life of them.

Objective:To explore the effect of family-participated dietary management on dietary compliance behavior and nutritional status in elderly maintenance hemodialysis (MHD) patients.Methods:From July 2019 to December 2020, a total of 120 elderly MHD patients admitted in the First Affiliated Hospital of Zhengzhou University were selected as the research objects, and divided into the experimental group and the control group with 60 cases in each group by random number table method. The control group conducted routine dietary management, and the experimental group received dietary management based on family participation. Six months after intervention, the dietary compliance attitude, dietary compliance behavior and nutritional status were compared between the two groups.Results:Six months after intervention, the scores of social restriction attitude, self-care attitude, acceptance attitude and dietary compliance behavior attitude of the experimental group were higher than those of the control group, and the differences were statistically significant ( P<0.05) . The scores of fluid restriction behavior, potassium intake behavior, self-care compliance, compliance in the face of difficulties, and dietary compliance of the experimental group were higher than those of the control group, and the differences were statistically significant ( P<0.05) . The serum prealbumin (PA) , albumin (ALB) , hemoglobin (Hb) , and transferrin (TRF) of the experimental group were higher than those of the control group, and the differences were statistically significant ( P<0.05) . Conclusions:Diet management based on family participation can enhance the attitude of dietary compliance, promote the development of dietary compliance behavior, and improve the nutritional status of elderly patients with MHD.

Objective:To investigate the clinical effect on ultrasound-guided vascular access-interventional therapy of hemodialysis in day surgery mode.Methods:Hemodialysis patients with vascular access dysfunction who underwent ultrasound-guided interventional therapy in the First Affiliated Hospital of Xi'an Jiaotong University from September 1, 2018 to October 31, 2020 were retrospectively analyzed. Demographic and clinical data were collected by electronic medical record system and telephone follow-up. Kaplan-Meier method was used to analyze the patency rate of vascular access.Results:A total of 421 cases of ultrasound-guided vascular access intervention were performed in 269 patients. The technical success rates of stenosis, chronic occlusion and acute occlusion lesion were 98.8%, 90.6% and 86.4%, respectively, and 406 cases (96.4%) of 246 patients were clinically successful. The postoperative brachial artery blood flow was 821(627, 1 029) ml/min, which was significantly higher than 309(202, 453) ml/min before the operation ( Z=-13.547, P<0.001). No serious complications occurred during and after the operation. At 6, 12, 18 and 24 months after operation, the primary patency rate was 74%, 59%, 48% and 45%, respectively, the assisted primary patency rate was 94%, 91%, 88% and 82%, and the secondary patency rate was 96%, 93%, 91% and 86%. Compared with the conventional inpatient surgery mode, the total cost of the day surgery mode was significantly reduced [12 067(10 051, 13 198) yuan vs 14 986(12 411, 20 643) yuan, Z=-13.185, P<0.001], and the hospital stay was significantly shortened [5.1(3.5, 6.9) h vs 73.4(31.6, 146.6) h, Z=-13.348, P<0.001]. Conclusion:It is safe and effective to perform interventional therapy for vascular access malfunction under ultrasound in day surgery mode, which can save cost and time of hospitalization, and can be carried out in hospitals with relevant conditions.

OBJECTIVE: To explore the clinical features of a Chinese pedigree affected with skeletal muscle sodium channelopathies due to variation of SCN4A gene. METHODS: Potential variation of the 24 exons of the SCN4A gene was screened using PCR and Sanger sequencing. RESULTS: Four family members were affected with the disease in an autosomal dominant inheritance pattern. Three patients had normekalemic periodic paralysis, while 1 showed paramyotonia congenita. Genetic analysis detected a missense variation c.2078T>C (p.Ile693Thr) in exon 13 of the SCN4A gene in the proband and other 3 affected relatives. CONCLUSION Normokalemic periodic paralysis and paramyotonia congenita can occur in different family members with skeletal muscle sodium channelopathies due to c.2078T>C(p.Ile693Thr) variation of SCN4A gene.
Channelopathies ; genetics ; Humans ; Muscle, Skeletal ; physiopathology ; Mutation ; NAV1.4 Voltage-Gated Sodium Channel ; genetics ; Pedigree

Objective? To explore the effect of staged continuous nursing mode on self-care ability of arteriovenous fistula among hemodialysis patients. Methods? A total of 120 patients with arteriovenous fistula in Blood Purification Center at the First Affiliated Hospital of Zhengzhou University were enrolled in the study by convenience sampling methods from January to December in 2017. Patients were divided into control group and observation group by random numeral table method. The control group received routine nursing and health education. On the basis of these, the observation group was given a phased continuous nursing intervention. The intervention was divided into 3 stages. The Exercise of Self-care Agency Scale (ESCA) was used to evaluate patients before and after the intervention. Complications of arteriovenous fistula were observed and compared in two groups. Results? There was no significant difference in self-concept, knowledge and information seeking, passiveness, motivation, and self-care scores between two groups before intervention. After intervention, the observation group patients' self-concept, knowledge and information seeking, passiveness, motivation, and self-care scores were higher than the control group, and the differences were statistically significant (P＜ 0.05). After intervention, the result of comparing the occurrence of obstruction of internal fistula, thrombosis, infection, and hemorrhage/hematoma in two groups showed that those in control group was higher than observation group with statistical differences (P＜ 0.05). Conclusions? The staged continuous care model improves the self-care ability of arteriovenous fistula among hemodialysis patients, and reduces the occurrence of related complications.

Objective: To investigate the clinical application and effect evaluation of failure mode and effect analysis (FMEA) in the optimization of vascular recanalization in patients with ST-segment elevation myocardial infarction (STEMI). Methods: A total of 389 STEMI patients admitted to the emergency department of the Fifth Central Hospital in Tianjin from January 2014 to January 2015 were served as the control group, and 398 STEMI patients admitted to the chest pain center of the Fifth Central Hospital in Tianjin from January 2016 to October 2017 were served as the experimental group. In the control group, routine emergency treatment was used. At the same time, the intervention room was 24-hour prepared for emergency vascular recanalization. The experimental group used FMEA. Through the usage of FMEA, the main factors those caused the delay in revascularization treatment were determined, and the revascularization process was optimized for these influencing factors, thereby shortening the "criminal" blood vessel opening time of patients. The door-to-balloon dilatation time (D-to-B time), troponin testing time, placement time of the catheterization room, initiation of the catheterization room to balloon dilatation time, and preoperative and 1 week postoperative N-terminal pro-brain natriuretic peptide (NT-proBNP) levels, heart function parameters [left ventricular ejection fraction (LVEF), left ventricular short axis shortening rate (FS), left ventricular end-systolic diameter (LVESD), and left ventricular end-diastolic diameter (LVEDD)] within 1 week, 3 months and 6 months after intervention, and the incidence of main cardiovascular adverse events within 1 month after intervention, hospital mortality, the length of hospital stay, and readmission within 1 year in the patients of two groups were recorded. Results: D-to-B time (minutes: 70.6±3.6 vs. 79.4±8.7), troponin testing time (minutes: 17.1±2.3 vs. 65.2±6.5), placement time of the catheterization room (minutes: 28.9±9.8 vs. 52.3±12.2) and activation of the catheterization room to balloon expansion time (minutes: 47.3±9.3 vs. 65.1±7.2) in the experimental group were significantly shorter than those in the control group (all P < 0.01). The NT-proBNP levels at 1 week after intervention in the two groups were lower than the preoperative levels, slightly lower in the experimental group, but the difference was not statistically significant. There was no significant difference in cardiac function at 1 week and 3 months after intervention between the two groups. The LVEF and FS at 6 months after intervention in the experimental group were significantly higher than those in the control group [LVEF: 0.622±0.054 vs. 0.584±0.076, FS: (38.1±4.3)% vs. (35.4±6.2)%, both P < 0.01], and LVESD and LVEDD were decreased significantly [LVESD (mm): 31.2±3.8 vs. 34.7±4.2, LVEDD (mm): 49.2±5.3 vs. 52.4±5.6, all P < 0.01]. The length of hospital stay in the experimental group was significantly shorter than that in the control group (days: 8.3±3.2 vs. 13.2±6.8, P < 0.01), the incidence of major cardiovascular adverse events within 1 month after intervention [13.6% (54/398) vs. 19.8% (77/389)], hospital mortality [1.8% (7/398) vs. 4.9% (19/389)], and readmission rate within 1 year [9.5% (38/398) vs. 14.5% (56/389)] in the experimental group were significantly lower than those in the control group (all P < 0.05). Conclusion The usage of FMEA to optimize the vascular recanalization procedure can shorten the emergency treatment time of STEMI patients, reduce the occurrence of adverse events, and improve the prognosis.

OBJECTIVE: To investigate the clinical application and effect evaluation of failure mode and effect analysis (FMEA) in the optimization of vascular recanalization in patients with ST-segment elevation myocardial infarction (STEMI). METHODS: A total of 389 STEMI patients admitted to the emergency department of the Fifth Central Hospital in Tianjin from January 2014 to January 2015 were served as the control group, and 398 STEMI patients admitted to the chest pain center of the Fifth Central Hospital in Tianjin from January 2016 to October 2017 were served as the experimental group. In the control group, routine emergency treatment was used. At the same time, the intervention room was 24-hour prepared for emergency vascular recanalization. The experimental group used FMEA. Through the usage of FMEA, the main factors those caused the delay in revascularization treatment were determined, and the revascularization process was optimized for these influencing factors, thereby shortening the "criminal" blood vessel opening time of patients. The door-to-balloon dilatation time (D-to-B time), troponin testing time, placement time of the catheterization room, initiation of the catheterization room to balloon dilatation time, and preoperative and 1 week postoperative N-terminal pro-brain natriuretic peptide (NT-proBNP) levels, heart function parameters [left ventricular ejection fraction (LVEF), left ventricular short axis shortening rate (FS), left ventricular end-systolic diameter (LVESD), and left ventricular end-diastolic diameter (LVEDD)] within 1 week, 3 months and 6 months after intervention, and the incidence of main cardiovascular adverse events within 1 month after intervention, hospital mortality, the length of hospital stay, and readmission within 1 year in the patients of two groups were recorded. RESULTS: D-to-B time (minutes: 70.6±3.6 vs. 79.4±8.7), troponin testing time (minutes: 17.1±2.3 vs. 65.2±6.5), placement time of the catheterization room (minutes: 28.9±9.8 vs. 52.3±12.2) and activation of the catheterization room to balloon expansion time (minutes: 47.3±9.3 vs. 65.1±7.2) in the experimental group were significantly shorter than those in the control group (all P < 0.01). The NT-proBNP levels at 1 week after intervention in the two groups were lower than the preoperative levels, slightly lower in the experimental group, but the difference was not statistically significant. There was no significant difference in cardiac function at 1 week and 3 months after intervention between the two groups. The LVEF and FS at 6 months after intervention in the experimental group were significantly higher than those in the control group [LVEF: 0.622±0.054 vs. 0.584±0.076, FS: (38.1±4.3)% vs. (35.4±6.2)%, both P < 0.01], and LVESD and LVEDD were decreased significantly [LVESD (mm): 31.2±3.8 vs. 34.7±4.2, LVEDD (mm): 49.2±5.3 vs. 52.4±5.6, all P < 0.01]. The length of hospital stay in the experimental group was significantly shorter than that in the control group (days: 8.3±3.2 vs. 13.2±6.8, P < 0.01), the incidence of major cardiovascular adverse events within 1 month after intervention [13.6% (54/398) vs. 19.8% (77/389)], hospital mortality [1.8% (7/398) vs. 4.9% (19/389)], and readmission rate within 1 year [9.5% (38/398) vs. 14.5% (56/389)] in the experimental group were significantly lower than those in the control group (all P < 0.05). CONCLUSIONS The usage of FMEA to optimize the vascular recanalization procedure can shorten the emergency treatment time of STEMI patients, reduce the occurrence of adverse events, and improve the prognosis.
Chest Pain ; Emergency Service, Hospital ; Healthcare Failure Mode and Effect Analysis ; Humans ; Myocardial Infarction ; Prognosis

Recently ,network pharmacology was a pop emerging pharmacology branch .The theory of "multi-gene , multi-target"about network pharmacology was consistent with treatment of complex disease .Different from the traditional ex-perimental methods about pharmacology ,the research methods of network pharmacology uniquely obtain the information of drugs and relative targets with less time and less money .In this paper ,according to the searching of China Knowledge Re-source Integrated Database and PubMed ,three aspects about research methods of network pharmacology together with its ap-plications were introduced :network construction ,network analysis and experimental validation .The introductions of the meth-ods gave us a new vision in researching the field of pharmacology deeply .

Objective To explore the association between expression changes of plasma macrophages scavenger receptor (SR)-B Ⅰ and CD36 and risk of arteriosclerosis in end-stage liver disease (ESLD) patients post liver transplantation.Methods A total of 20 liver transplantation patients were included.Clinical data including blood pressure,blood lipid,blood glucose,incidence of new-onset cardiovascular events were obtained.Plasma macrophages scavenger receptor SR-B Ⅰ and CD36 expressions were detected by polymerase chain reaction (RT-PCR) and Western-blot before and at 1 year after liver transplantation.Results The serum levels of TC [(5.34 ± 0.87) mmol/L vs.(4.27 ± 0.91) mmol/L],TG [(2.47±0.81)mmol/Lvs.(1.02±0.49)mmol/L] and LDL-C [(3.36±0.67)mmol/Lvs.(2.14± 0.74) mmol/L] were significantly increased (P ＜ 0.05) while the serum level of HDL-C [(0.98 ± 0.84) mmol/L vs.(1.58 ± 0.34) mmol/L] was significantly reduced (P ＜ 0.05) at 1 year post transplantation compared to before-transplantation levels.One patient developed non-ST segment elevation myocardial infarction and treated with percutaneous coronary intervention,another patient developed atrial fibrillation at one year after transplantation.The plasma mRNA expression of SR-B [was reduced (20.44 ± 0.60 vs.23.12 ±0.69,P ＜0.05) while the expression of CD36 mRNA was upregulated(20.91 ±0.35 vs.18.55 ± 0.62,P ＜ 0.05) at 1 year after liver transplantation compare with that of before the transplantation.Similarly,the plasma protein expression of SR-B Ⅰ was reduced (0.21 ± 0.13 vs.0.64 ± 0.28,P ＜ 0.05) while the protein expression of CD36 was upregulated (0.94 ± 0.13 vs.0.42 ± 0.19,P ＜ 0.05) at 1 year after liver transplantation compare with that of before the transplantation.Conclusion Plasma expression changes of SR-B Ⅰ and CD36 might contribute to the dyslipidemia and contribute to the atherosclerosis susceptibility after liver transplantation.