共查询到20条相似文献,搜索用时 31 毫秒
1.
Jing ZHAO Hui-min YAN Ya LI Jia WANG Lu HAN Zhi-hao WANG Meng-xiong TANG Wei ZHANG Yun ZHANG Ming ZHONG 《Journal of Zhejiang University. Science. B》2015,16(5):380-387
目的:观察匹伐他汀钙对高胆固醇血症患者外周血管的影响。创新点:首次在国内发现匹伐他汀钙能够改善高胆固醇血症患者肱动脉和颈动脉血管内皮功能而且延缓其动脉粥样硬化发展,并首次证实改善内皮功能是匹伐他汀钙延缓其动脉粥样硬化发展的重要原因。方法:按照入选排除标准,选取本院高胆固醇血症患者(HC),完成超声心动图检查的40例。根据剂量不同,分为两个剂量组:1 mg剂量组20例(男性5例,女性15例,平均年龄(55.20±8.35)岁),2 mg剂量组20例(男性9例,女性11例,平均年龄(57.56±6.09)岁)。访视结束后完成超声心动图检查的HC组36例,两个剂量组分别有2人失访。治疗后1 mg剂量组18例(男性3例,女性15例,平均年龄(56.00±7.85)岁),2 mg剂量组18例(男性7例,女性11例,平均年龄(57.79±6.46)岁)。选择本院同期体检中心30例正常人作为对照(年龄和性别均与病例组匹配,男性14例,女性16例,平均年龄(54.94±6.90)岁)。所有研究对象,均经隔夜禁食12~14小时,次日清晨抽取空腹肘静脉血,测定临床生化指标。采用Sequia512彩色多普勒超声诊断仪,应用高分辩率外周血管超声技术,检测HC治疗前后肱动脉血流介导性舒张功能(FMD)、颈动脉结构和功能。结论:经匹伐他汀钙治疗8周后,高胆固醇血症患者血管功能明显改善,表现为FMD升高,僵硬度减小;颈动脉僵硬度和内中膜厚度(IMT)延缓进展与其内皮功能改善密切相关。 相似文献
2.
Ai-bin Zhang Ye Wang Chen Hu Yan Shen Shu-sen Zheng 《Journal of Zhejiang University. Science. B》2017,18(6):532-538
Objective
The aim of this study was to compare complications and oncologic outcomes of patients undergoing laparoscopic distal pancreatectomy (LDP) and open distal pancreatectomy (LDP) at a single center.Methods
Distal pancreatectomies performed for pancreatic ductal adenocarcinoma during a 4-year period were included in this study. A retrospective analysis of a database of this cohort was conducted.Results
Twenty-two patients underwent LDP for pancreatic ductal adenocarcinoma, in comparison to seventy-six patients with comparable tumor characteristics treated by LDP. No patients with locally advanced lesions were included in this study. Comparing LDP group to LDP group, there were no significant differences in operation time (P=0.06) or blood loss (P=0.24). Complications (pancreatic fistula, P=0.62; intra-abdominal abscess, P=0.44; postpancreatectomy hemorrhage, P=0.34) were similar. There were no significant differences in the number of lymph nodes harvested (11.2±4.6 in LDP group vs. 14.4±5.5 in LDP group, P=0.44) nor the rate of patients with positive lymph nodes (36% in LDP group vs. 41% in LDP group, P=0.71). Incidence of positive margins was similar (9% in LDP group vs. 13% in LDP group, P=0.61). The mean overall survival time was (29.6±3.7) months for the LDP group and (27.6±2.1) months for LDP group. There was no difference in overall survival between the two groups (P=0.34).Conclusions
LDP is a safe and effective treatment for selected patients with pancreatic ductal adenocarcinoma. A slow-compression of pancreas tissue with the GIA stapler is effective in preventing postoperative pancreatic fistula. The oncologic outcome is comparable with the conventional open approach. Laparoscopic radical antegrade modular pancreatosplenectomy contributed to oncological clearance.3.
Wen-jia Xie Ye-sheng Xu Xia Zhang Yu-feng Yao 《Journal of Zhejiang University. Science. B》2018,19(3):218-226
Objective
To assess the lower tear meniscus height (LTMH), central tear film thickness (CTFT), and central corneal epithelial thickness (CCET) after deep anterior lamellar keratoplasty (DALK).Methods
This was a retrospective cross-sectional study of 20 patients who had DALK in one eye over a three-month period. LTMH, CTFT, and CCET of the operated eyes and the unoperated fellow eyes were measured using high-definition optical coherence tomography (HD-OCT). Correlations between three OCT assessments and age, time following surgery, graft size, bed size, and the number of residual sutures were analyzed.Results
Compared to patients with keratoconus, patients with other corneal conditions had significantly higher CCET in the fellow eye (P=0.024). For all patients, CCET in the operated eye was significantly negatively correlated with the number of residual sutures (R=?0.579, P=0.008), and was significantly positively correlated with time following surgery (R=0.636, P=0.003). In the fellow eye, a significant positive correlation was found between age and CCET (R=0.551, P=0.012), and a significant negative correlation between age and CTFT (R=?0.491, P=0.028). LTMH was found to be significantly correlated between operated and fellow eyes (R=0.554, P=0.011). There was no significant correlation between LTMH and age, bed/graft size, time following surgery, or residual sutures (all possible correlations, P>0.05).Conclusions
Patients with keratoconus tend to have a thinner central corneal epithelium. Corneal epithelium keeps regenerating over time after DALK. DALK did not induce a significant change in tear volume compared with the fellow eye. Postoperative tear function might depend on an individual’s general condition, rather than on age, gender, bed/graft size, time following surgery, or residual sutures.4.
Guang-yong Ye Ke-yi Wang Qiao-di Gui Min Wang 《Journal of Zhejiang University. Science. B》2018,19(8):654-661
Objective
The purpose of this study was to determine the role of Ureaplasma urealyticum-derived lipidassociated membrane proteins (LAMPs) in the host innate immune system, specifically their effect on Toll-like receptors (TLRs).Methods
LAMPs were derived from U. urealyticum strains, and human amniotic epithelial cells (HAECs) were isolated from healthy full-term placentas. Cytokine concentrations were determined by enzyme-linked immunosorbent assay (ELISA) and TLR2 mRNA by real-time PCR. Expression of TLR2 was confirmed by Western blotting and immunohistochemistry.Results
LAMPs induced HAECs to produce inflammatory cytokines interleukin (IL)-6, IL-8, and tumor necrosis factor (TNF)-α. Cytokine production was reduced after blocking TLR2 using TLR2 inhibitor (anti-hTLR2-IgA).Conclusions
LAMPs isolated from U. urealyticum induced TLR2-dependent up-regulation of inflammatory genes and cytokines in HAECs.5.
6.
Abdul Wahab Syed Aleem Jan Abdur Rauf Zia ur Rehman Zahid Khan Aftab Ahmed Fatima Syed Sher Zaman Safi Hamayun Khan Muhammad Imran 《Journal of Zhejiang University. Science. B》2018,19(2):120-129
Objective
Scandix pecten-veneris L. is a less studied wild edible herb and is considered an extinct plant species in many parts of the world. This study was designed to evaluate its phytochemical composition and biological potential of S. pecten-veneris L.Methods
Phytochemicals including alkaloids, flavonoids, polyphenols, and tannins were determined in extracts of S. pecten-veneris. Antioxidant activity was determined using 2,2-diphenyl-1-picrylhydrazyl (DPPH), while reducing power was tested by ferric reducing/antioxidant power (FRAP) assay. Antimicrobial activity against seven bacterial and four fungal strains was evaluated using agar well diffusion assay. Enzymes inhibition study was performed for urease, phosphodiesterase-I, and catalase-II.Results
S. pecten-veneris showed moderate antiradical activity and reducing potential of hydroxyl radicals to about 20% of the initial value. The antioxidant activity of various extracts of S. pecten-veneris showed a linear correlation with total phenolic contents in the order of water>n-butanol>chloroform>ethyl acetate>methanol extracts. S. pecten-veneris leaves showed the highest inhibitory activity against Staphylococcus aureus while the highest antifungal activity was observed against Candida albicans. The plant extract was most potent against urease enzymes but showed moderate activity against phosphodiestrase-I and carbonic anhydrase-II.Conclusions
Our data demonstrate that in addition to its culinary uses, S. pecten-veneris has good medicinal potential and hence could be used for treating some specific health ailments.7.
Jun Zhu Rong-jun Gao Qiang Liu Ru-hong Jiang Lu Yu Ya-xun Sun Pei Zhang Jian-wei Lin Yang Ye Zu-wen Zhang Shi-quan Chen Hui Cheng Xia Sheng Chen-yang Jiang 《Journal of Zhejiang University. Science. B》2017,18(11):946-954
Background and objective
Rivaroxaban is a new oral anticoagulant for stroke prevention in patients with non-valvular atrial fibrillation (NVAF), which has less drug–food interaction than warfarin. We conducted this prospective randomized study to evaluate the metabolic benefits as well as the safety and efficacy with rivaroxaban versus warfarin in patients with NVAF following radiofrequency catheter ablation (RFCA).Methods
From April to July 2014, 60 patients with NVAF undergoing RFCA were prospectively enrolled in our study. Following RFCA, all patients were randomly assigned to receive rivaroxaban (Group R, n=30) or warfarin (Group W, n=30). Metabolic indices including serum total protein, albumin, globulin, and high-density lipoprotein (HDL) as well as bleeding, stroke, and systemic thromboembolism events were evaluated and compared during follow-up after 15, 30, 60, and 90 d of RFCA procedure.Results
Serum total protein, albumin, globulin, and HDL levels were all significantly elevated at each follow-up stage in Group R when compared to the baseline (P<0.05 respectively). In Group W, the metabolic indices decreased at first and then had an increasing trend. There were no deaths or thromboembolic complications in each group. The prevalence of total bleeding complications was similar between Group R and Group W (11/30, 36.7% vs. 10/30, 33.3%, P=0.79).Conclusions
Patients with NVAF receiving rivaroxaban after RFCA procedures appear to benefit from a metabolic perspective compared with warfarin, providing practical clinical reference for the choice of the anticoagulant. Rivaroxaban seems to be as safe and effective in preventing thromboembolic events as warfarin for these patients.8.
Radosław Wieczór Anna Maria Wieczór Grażyna Gadomska Katarzyna Stankowska Jacek Fabisiak Karol Suppan Grzegorz Pulkowski Jacek Budzyński Danuta Rość 《Journal of Zhejiang University. Science. B》2016,17(11):842-849
Objective
Being overweight or obese comprises a significant risk factor for atherosclerosis. Fat tissue also generates factors stimulating angiogenesis, the process by which new blood vessels form. The purpose of this paper is to assess concentrations of the vascular endothelial growth factor A (VEGF-A) and its soluble type-1 and type-2 receptors (sVEGFR-1 and sVEGFR-2) in plasma of patients with peripheral arterial disease (PAD) depending on the level of nutrition according to body mass index (BMI).Methods
The study group included patients suffering from symptomatic PAD (n=46) in Fontaine classes IIa–IV without any history of neoplastic disease and who have a normal BMI (n=15), are overweight (n=21) or are obese (n=10). The control group (n=30) consisted of healthy non-smoking volunteers who were neither overweight nor obese. Venous blood plasma samples were collected from both groups at rest in the morning to determine plasma concentrations of VEGF-A, sVEGFR-1, and sVEGFR-2 using the enzymelinked immunosorbent assay (ELISA) method.Results
The group of patients with PAD co-existent with being overweight or obese tended to have higher mean concentration levels of VEGF-A and sVEGFR-2 when compared with patients suffering from PAD with normal BMI. A statistically significant positive correlation was obtained between BMI and average plasma concentrations of sVEGFR-2 (R=0.37, P=0.0103). However, no significant correlation was noticed between BMI and VEGF-A or sVEGFR-1 concentrations.Conclusions
A positive correlation determined between the level of antiangiogenic factor and BMI value may be indicative of the linearly growing prevalence of some antiangiogenic factors in patients with metabolic disorders, which may be one of numerous factors contributing to incomplete efficiency of collateral circulation development in patients with PAD.9.
Chong Lai Ren-an Jin Xiao Liang Xiu-jun Cai 《Journal of Zhejiang University. Science. B》2016,17(3):236-246
Objective
Three mainstream techniques—laparoscopic hepatectomy (LH), percutaneous radiofrequency ablation (pRFA), and open hepatectomy (OH)—were compared in this study, in terms of their efficacies in the treatment of small hepatocellular carcinoma (HCC).Methods
A comparative study was performed within a total of 94 patients diagnosed with small HCC in our hospital from 2005 to 2010, who underwent LH (28), RFA (33), or OH (33). They had either a single tumor lesion of less than 5 cm or up to three nodules with diameters of less than 3 cm each. Outcomes were carefully evaluated throughout a 3-year follow-up interval and statistically interpreted.Results
The pRFA group had a significantly lower disease-free survival rate compared with the two surgical groups (P=0.001) and significantly shorter overall survival (P=0.005), while the LH group and the OH group had no difference in survival results. For patients younger than 60 years old, surgical approaches offered a better long-term overall survival prognosis (P=0.008). There were no statistically significant differences among the three groups in overall survival for elderly patients (P=0.104).Conclusions
Among patients with small HCC, LH may provide better curative effects than pRFA without increasing complication rates. pRFA leads to faster recurrence than surgical resections. LH has similar therapeutic effects to OH and causes less trauma. For patients younger than 60 years old, LH may be the best curative treatment. Elderly patients may choose either surgery or pRFA.10.
Yong Zheng Qiang Gu Hong-wu Chen Huai-ming Peng Dong-yu Jia Yu Zhou Mei-xiang Xiang 《Journal of Zhejiang University. Science. B》2017,18(12):1113-1122
Objective
The relative preventative efficacy of amiodarone and lidocaine for ventricular fibrillation (VF) after release of an aortic cross-clamp (ACC) during open heart surgery has not been determined. This meta-analysis was designed to systematically evaluate the influence of amiodarone, lidocaine, or placebo on the incidence of VF after ACC.Methods
Prospective randomized controlled trials (RCTs) that compared the VF-preventative effects of amiodarone with lidocaine, or amiodarone or lidocaine with placebo were included. PubMed, EMBASE, and the Cochrane Library were searched for relevant RCTs. Fixed or randomized effect models were applied according to the heterogeneity of the data from the selected studies.Results
We included eight RCTs in the analysis. Pooled results suggested that the preventative effects of amiodarone and lidocaine were comparable (relative risk (RR)=1.12, 95% confidence interval (CI): 0.70 to 1.80, P=0.63), but both were superior to the placebo (amiodarone, RR=0.71, 95% CI: 0.51 to 1.00, P=0.05; lidocaine, RR=0.63, 95% CI: 0.46 to 0.88, P=0.006). The percentage of patients requiring electric defibrillation counter shocks (DCSs) did not differ significantly among patients administered amiodarone (RR=0.21, 95% CI: 0.04 to 1.19, P=0.08), lidocaine (RR=2.44, 95% CI: 0.13 to 44.02, P=0.55), or the placebo (RR=0.56, 95% CI: 0.25 to 1.25, P=0.16).Conclusions
Amiodarone and lidocaine are comparably effective in preventing VF after ACC, but the percentage of patients who subsequently require DCSs does not differ among those administered amiodarone, lidocaine, or placebo.11.
Sanjay Jaiswal Xian-bao Liu Qu-cheng Wei Ying-hao Sun Li-han Wang Liu-guang Song Dan-dan Yang Jian-an Wang 《Journal of Zhejiang University. Science. B》2018,19(1):57-64
Objective
The purpose of this meta-analysis was to explore the effect of corticosteroids on atrial fibrillation (AF) following catheter ablation.Methods
We searched PubMed, Embase, and the Cochrane Central Register of Controlled Trials for published articles describing the effect of corticosteroids in preventing AF recurrence after catheter ablation. Data on study and patient were extracted. Risk ratios (RRs) and 95% confidence intervals (CIs) were calculated by use of a random-effect model, and P values of <0.05 were considered significant.Results
Two randomized controlled trials (RCTs) and three cohort studies involving 846 patients were included in this meta-analysis. Within one month of catheter ablation, corticosteroid use was associated with a declined risk of recurrence of AF in RCT (RR 0.57, 95% CI 0.39 to 0.85, P=0.005), but without significant effect in cohort studies (RR 1.01, 95% CI 0.79 to 1.30, P=0.94). After three months of catheter ablation, corticosteroids did not have a significant effect in the prevention of late recurrence of AF in either RCT (RR 0.78, 95% CI 0.38 to 1.59, P=0.49) or cohort studies (RR 0.96, 95% CI 0.70 to 1.31, P=0.78).Conclusions
Our meta-analysis suggested that periprocedural administration of corticosteroids of catheter ablation was associated with reduction of early but not late recurrence of AF.12.
Ping Li Xuan Li Qing Gu Xiu-yu Lou Xiao-mei Zhang Da-feng Song Chen Zhang 《Journal of Zhejiang University. Science. B》2016,17(8):569-579
Objective
In previous studies, Lactobacillus plantarum ZJ316 showed probiotic properties, such as antimicrobial activity against various pathogens and the capacity to significantly improve pig growth and pork quality. The purpose of this study was to reveal the genes potentially related to its genetic adaptation and probiotic profiles based on comparative genomic analysis.Methods
The genome sequence of L. plantarum ZJ316 was compared with those of eight L. plantarum strains deposited in GenBank. BLASTN, Mauve, and MUMmer programs were used for genome alignment and comparison. CRISPRFinder was applied for searching the clustered regularly interspaced short palindromic repeats (CRISPRs).Results
We identified genes that encode proteins related to genetic adaptation and probiotic profiles, including carbohydrate transport and metabolism, proteolytic enzyme systems and amino acid biosynthesis, CRISPR adaptive immunity, stress responses, bile salt resistance, ability to adhere to the host intestinal wall, exopolysaccharide (EPS) biosynthesis, and bacteriocin biosynthesis.Conclusions
Comparative characterization of the L. plantarum ZJ316 genome provided the genetic basis for further elucidating the functional mechanisms of its probiotic properties. ZJ316 could be considered a potential probiotic candidate.13.
Wei He Rong-rong Huang Qing-yu Shi Xian-bao Liu Jian-an Wang Min Yan 《Journal of Zhejiang University. Science. B》2017,18(4):353-359
Objective
Transcatheter aortic valve implantation (TAVI) is a minimally invasive therapy for elderly patients with severe aortic valve stenosis who were refused surgical aortic valve replacement because of the high perioperative risk. Traditionally, this procedure has been done under general anesthesia, but more recently local anesthesia and sedation have become popular. This research assessed the effectiveness of transfemoral TAVI under bispectral index (BIS)-guided sedation.Methods
In this single-center retrospective control analysis, clinical data, including demographic characteristics, echocardiography, periprocedural data, and main complications, were collected and assessed in 113 patients undergoing TAVI through the femoral artery under general anesthesia (GA group, n=36) and under BIS-guided sedation (SED group, n=77).Results
The demographic characteristics and echocardiographic parameters between the two groups were similar (P>0.05). Two (2.6%) of patients were moved from BIS-guided sedation to general anesthesia for surgical reasons. Procedures were significantly shorter in the SED group than in the GA group ((127.10±44.43) min vs. (165.90±71.62) min, P=0.004). Patients in the SED group lost less blood and received significantly fewer red blood cells and catecholamines than those in the GA group (5.19% vs. 22.22%, P=0.017 and 67.53% vs. 97.22%, P<0.001). The length of hospital stay was significantly shorter and there were fewer pulmonary complications in the SED group than in the GA group. Thirty-day mortality was similar between the two groups.Conclusions
BIS-guided sedation is a feasible and safe approach for transfemoral TAVI. The anesthesiologist should choose the best anesthetic method according to the team’s experience.14.
Objectives
Spontaneous intracranial hypotension (SIH) is recognized far more commonly than ever before. Though usually characterized by low cerebrospinal fluid (CSF) pressure, some patients with SIH are observed to have normal pressure values. In this study, we aimed to confirm the proportion of patients with normal CSF opening pressure (CSF OP) and explore the factors affecting CSF OP in SIH patients.Methods
We retrospectively reviewed 206 consecutive SIH patients and analyzed their clinical and imaging variables (including demographic data, body mass index (BMI), duration of symptoms, and brain imaging findings). Univariate and multivariate analyses were performed to identify the potential factors affecting CSF OP.Results
In a total of 114 (55.3%) cases the CSF OP was ≤60 mmH2O (1 mmH2O=9.806 65 Pa), in 90 (43.7%) cases it was between 60 and 200 mmH2O, and in 2 (1.0%) cases it was >200 mmH2O. Univariate analysis showed that the duration of symptoms (P<0.001), BMI (P<0.001), and age (P=0.024) were positively correlated with CSF OP. However, multivariate analysis suggested that only the duration of symptoms (P<0.001) and BMI (P<0.001) were strongly correlated with CSF OP. A relatively high R 2 of 0.681 was obtained for the multivariate model.Conclusion
Our study indicated that in patients without a low CSF OP, a diagnosis of SIH should not be excluded. BMI and the duration of symptoms can influence CSF OP in SIH patients, and other potential factors need further investigation.15.
Objective
To evaluate the comparative therapeutic efficacy of radiofrequency ablation (RFA) and hepatic resection (HR) for breast cancer liver metastases (BCLMs).Methods
Studies that had examined the outcomes for both RFA and HR for BCLM were identified by searching the electronic databases PubMed, EMBASE, and the Cochrane Library. Pooled analyzes of the overall survival (OS), disease-free survival (DFS), and short-term outcomes of BCLM were performed.Results
Patients with BCLM gained many more survival benefits from HR than from RFA with regard to the 3-year OS rate (combined odds ratio (OR) 0.41, 95% confidence interval (CI) 0.29–0.59, P<0.001), 5-year OS rate (combined OR 0.38, 95% CI 0.32–0.46, P<0.001), 3-year DFS (combined OR 0.36, 95% CI 0.27–0.49, P<0.001), and 5-year DFS (combined OR 0.51, 95% CI 0.40–0.66, P<0.001). RFA had fewer postoperative complications (combined OR 0.30, 95% CI 0.20–0.44, P<0.001) and shorter hospital stays (combined OR -9.01, 95% CI -13.49–4.54, P<0.001) than HR.Conclusions
HR takes precedence over RFA in the treatment of patients with BCLM, considering the better survival rate. RFA gives rise to fewer complications and can be carried out with a shorter hospital stay, compared to HR. RFA should be reserved for patients who are not optimum candidates for resection.16.
Si-gong Zhang Yu-xin Song Xiao-ming Shu Hai-li Shen Han-bo Yang Rui-xue Duo Guo-chun Wang 《Journal of Zhejiang University. Science. B》2017,18(7):605-614
Objectives
Low-density granulocytes (LDGs) can form neutrophil extracellular traps (NETs) spontaneously and excessively. When peripheral blood mononuclear cells (PBMCs) are used for studying T lymphocytes, LDGs contained in the PBMCs may decrease the threshold of activating T lymphocytes by forming NETs. This study focused on the profiles of LDGs in common autoimmune diseases and methods for removing LDGs from PBMCs.Methods
The percentages of LDGs in PBMCs from 55 patients with dermatomyositis (DM), 15 with polymyositis (PM), 42 with rheumatoid arthritis (RA), 25 with systemic lupus erythematosus (SLE), and 19 healthy controls were determined by flow cytometry. Three methods of removing LDGs were explored and compared. After removal, PBMCs from six patients with positive T-SPOT.TB were tested again to find out if LDGs contained in the PBMCs could influence T lymphocyte reactions.Results
Significantly higher LDG percentages were found in PBMCs from patients with DM ((8.41±10.87)%, P<0.0001), PM ((8.41±10.39)%, P<0.0001), RA ((4.05±6.97)%, P=0.0249), and SLE ((7.53±11.52)%, P=0.0006), compared with the controls ((1.28±0.73)%). The T-SPOT.TB values significantly decreased after LDGs were removed. Increasing relative centrifugal force (RCF) within a limited range can decrease the LDG percentage from an initial high level, but not markedly increase the LDG clearance rate. Compared with the whole blood sediment method, the PBMC adherence method can significantly remove LDGs yet scarcely influence the T lymphocyte percentage in PBMCs.Conclusion
The LDG percentage in PBMCs is significantly increased in patients with SLE, DM, PM, and RA. The influence of LDGs on T lymphocytes cannot be ignored in PBMC cultures. The adherence method is a simple and easy-to-use method for removing LDGs and purifying T lymphocytes from PBMCs.17.
Background
Leber congenital amaurosis (LCA) is a group of clinically and genetically heterogeneous retinal dystrophy. To date, 22 genes are known to be responsible for LCA, and some specific phenotypic features could provide significant prognostic information for a potential genetic etiology. This study is to identify gene variants responsible for LCA in a Chinese family using direct Sanger sequencing, with the help of phenotype-genotype correlations.Methods
A Chinese family with six members including two individuals affected with LCA was studied. All patients underwent a complete ophthalmic examination. Based on phenotype-genotype correlation, direct Sanger sequencing was performed to identify the candidate gene on all family members and normal controls. Targeted next-generation sequencing was used to exclude other known LCA genes.Results
By Sanger sequencing, we identified two novel missense variants in the retinol dehydrogenase 12 (RDH12) gene: a c.164C>A transversion predicting a p.T55K substitution, and a c.535C>G transversion predicting a p.H179D substitution. The two affected subjects carried both RDH12 variants, while their parents and offspring carried only one of heterozygous variants, showing complete cosegregation of the variants. The compound heterozygous variants were not present in 600 normal controls. Besides, the RDH12 variants were confirmed by targeted next-generation sequencing.Conclusions
The RDH12 compound heterozygous variants might be the cause of the LCA family. Our study adds to the molecular spectrum of RDH12-related retinopathy and offers an effective example of the power of phenotype-genotype correlations in molecular diagnosis of LCA.18.
矿物质代谢紊乱与钙化性主动脉瓣疾病的发生和严重性相关(英文) 总被引:1,自引:0,他引:1
Zhen-kun YANG Chen YING Hong-yan ZHAO Yue-hua FANG Ying CHEN Wei-feng SHEN 《Journal of Zhejiang University. Science. B》2015,16(5):362-369
目的:探讨在肾功能正常或轻度受损(肾小球滤过率≥60 ml/(min·1.73 m2))人群中矿物质代谢紊乱与钙化性主动脉瓣疾病的发生和严重性是否相关。创新点:以具有代表性和临床价值的肾功能正常或轻度受损人群为研究对象,首次尝试通过骨转换生物标志物检测探讨钙化性主动脉瓣疾病的可能机制。方法:入选260例经超声心动图诊断钙化性主动脉瓣疾病患者(164例钙化性主动脉瓣硬化,96例钙化性主动脉瓣狭窄)和164例年龄及性别匹配对照组人群,检测矿物质代谢和骨转换生化标志物,应用多因素回归分析矿物质代谢与钙化性主动脉瓣疾病的发生和严重性的关系,并初步探讨可能机制。结果显示,从对照组到钙化性主动脉瓣硬化至狭窄患者,血钙、血磷、碱性磷酸酶和甲状旁腺素(i PTH)水平进行性升高,25羟-维生素D(25-OHD)水平进行性降低,各组间差异具有统计学显著性(P<0.001);同样,骨转换生化标志物骨钙素(BGP)、I型前胶原N端前肽(PINP)和β-胶原特殊序列(β-CTx)水平进行性升高,各组间差异具有统计学显著性(P<0.001)。在钙化性主动脉瓣狭窄患者中,i PTH水平与跨瓣峰值流速和平均跨瓣压差显著正相关,25-OHD则显著负相关。经校正相关因素后,多因素回归分析显示,血钙、血磷、碱性磷酸酶和i PTH水平升高及25-OHD水平下降和钙化性主动脉瓣疾病的发生和严重性密切相关。结论:矿物质代谢紊乱与钙化性主动脉瓣疾病的发生和严重性密切相关,异常骨转换可能是其发生机制。 相似文献
19.
Dong-Yi Jin Cong-Lin Liu Jun-Nan Tang Zhao-Zhong Zhu Xue-Xi Xuan Xiao-Dan Zhu Yun-Zhe Wang Tian-Xia Zhang De-Liang Shen Xiao-Fang Wang Guo-Ping Shi Jin-Ying Zhang 《Journal of Zhejiang University. Science. B》2017,18(8):685-695
Background
Coronary heart disease (CHD) is characterized by arterial wall inflammation and matrix degradation. Matrix metalloproteinase (MMP)-22 and -29 and pro-inflammatory cytokine interleukin-18 (IL18) are present in human hearts. IL18 may regulate MMP-22 and -29 expression, which may correlate with CHD progression.Methods and results
Immunoblot analysis showed that IL18 induced MMP-22 expression in human aortic smooth muscle cells. The Mann Whitney test from a prospective study of 194 CHD patients and 68 non-CHD controls demonstrated higher plasma levels of IL18, MMP-22 and -29 in CHD patients than in the controls. A logistic regression test suggested that plasma IL18 (odds ratio (OR)=1.131, P=0.007), MMP-22 (OR=1.213, P=0.040), and MMP-29 (OR=1.198, P=0.033) were independent risk factors of CHD. Pearson’s correlation test showed that IL18 (coefficient (r)=0.214, P=0.045; r=0.246, P=0.031) and MMP-22 (r=0.273, P=0.006; r=0.286, P=0.012) were associated with the Gensini score before and after adjusting for potential confounding factors. The multivariate Pearson’s correlation test showed that plasma MMP-22 levels correlated positively with high-sensitive-C-reactive protein (hs-CRP) (r=0.167, P=0.023), and MMP-29 levels correlated negatively with triglyceride (r=?0.169, P=0.018). Spearman’s correlation test indicated that plasma IL18 levels associated positively with plasma MMP-22 (r=0.845, P<0.001) and MMP-29 (r=0.548, P<0.001).Conclusions
Our observations suggest that IL18, MMP-22 and -29 serve as biomarkers and independent risk factors of CHD. Increased systemic IL18 in CHD patients may contribute to elevated plasma MMP-22 and -29 levels in these patients.20.
Xiao-ming Pan Zhong Lin Nan Li Jia-qi Wu Dan-qing Chen Yi-min Zhu Fan Qu 《Journal of Zhejiang University. Science. B》2018,19(6):490-496