Background Congenital cataract is an important cause of blindness and amblyopia in children,and about 50％ of congenital cataract is hereditary.Objective The aim of this study was to determine the diseasecausing gene of one Hui congenital cataract pedigree by using exon combined target region capture sequencing chip of eye diseases.Methods This study was approved by Ethic Committee of Ningxia People's Hospital and followed Declaration of Helsinki.One Hui congenital cataract pedigree was recruited in Ningxia Eye Hospital in 2011.All the disease history of the members in this family were collected and recorded,and the eye examinations were performed.The peripheral blood specimens were collected from family members and 300 healthy individuals for the extraction of DNA.Exon combined target region capture sequencing chip of eye diseases was used to screen the candidate diseasecausing mutations,then PCR and direct sequencing were used to confirm the disease-causing mutations.Results This H ui family included 61 members of 6 generations,and 18 patients were diagnosed in serial 5 passages,conforming to autosomal dominant inheritance pattern.Among 18 cataract patients,7 individuals were associated with nystagmus and strabismus,and 4 patients had high myopia.Eight candidate pathogenetic mutations were detected by exon combined target region capture sequencing chip of eye diseases and bioinformatics method,with 5 mutations in noncoding regions and 3 in coding regions.The mutation P24T of CYRGD gene was confirmed as pathogenic mutation of this pedigree by using PCR and direct sequencing methods.These mutations co-segregated with affected members of the family,and the mutations were not found in the unaffected family members and 300 unrelated controls.Conclusions P24T of CYRGD gene mutation is confirmed as pathogenic mutation of this pedigree.Exon combined target region capture sequencing chip provides a new approach to detect disease-causing mutations of congenital cataract with diversity clinical phenotypes.

Objective:To explore the improvement effect of tirofiban on the myocardial reperfusion of non-ST segmant elevated myocardial infarction (NSTEMI) patients underwent percutaneous coronary intervention (PCI) treatment.Methods:78 NSTEMI patients underwent PCI in our hospital from April 2012 to April 2015 were selected and divided into the observation group (n=38) and the control group (n=40) according to different drugs.Patients in the control group were given asprin,clopidogrel and heparin,while patients in the observation group were additionally given tirofiban.Then the myocardial contrast echocardiography (MCE) was taken to evluate the myocardial reperfusion.Results:No statistical difference was found in the levels of A,β,A β,CK-MB and cTnⅠ before PCI between 2 groups.The levels of β,A β of observation group were obviously higher,CK-MB and cTnⅠ were obviously lower than those of the control group(P＜0.05).The MACE rate of observation group was 2.63％,which was 5.00％ in the control group,no significant difference was between two groups (P＞0.05).Conclusion:Tirofiban could obviously improve the myocardial reperfusion of NSTEMI patients underwent PCI with high safety.

Objective To investigate the predictive value of plasma cystatin C (CysC) in patients with acute coronary syndrome (ACS) after pereutaneous coronary intervention (PCI).Methods A total of 660 patients with ACS admitted to cardiovascular department were enrolled in this study from January 2009 to June 2010.The enrollment criteria were:(1) the stenosis degree was above 75％ in at least one coronary artery checked by coronary angiography and successful PCI; (2) normal renal function or mild dysfunction with glomerular filtration rate (GFR) ＞ 60 ml/ ( min · 1.73 m2 ).Exclusion criteria were severe liver and renal insufficiency,malignancies and valvular heart diseases.The plasma CysC levels were examined by the latex enhanced immune turbidity method within 24 hours after admission.The relevant clinical data were recorded.The patients were followed up by out-patient interview or telephone from March to June 2011 and adverse cardiovascular events were recorded.The patients were divided into four groups according to CysC level:Q1 (CysC＜1.02 mg/L),Q2 (1.02 mg/L≤＜CysC ＜1.17 mg/ L),Q3 (1.17 mg/L ≤ CysC ＜1.35 mg/L) and Q4 (CysC ≥ 1.35 mg/L).Univariate and multivariate Cox hazards regressions were established to analyze the factors related to prognosis.The proportion differences between four groups were tested by x2.The survival ratio was estimated using the Kaplan-Meier method.Statistical significance was established at a P value of less than 0.05.Results ① A total of 606 ( 91.7％ ) patients successfully accepted follow-up.Mean follow-up time was ( 14.3 + 1.7 ) months.Of them,95 patients were subjected to adverse cardiovascular events ( 15.7％ ).②The incidences of adverse cardiovascular events in Q2,Q3,Q4 were significantly higher than those in Q1 ( P ＜ 0.001 ).The rates of mortality,nonfatal myocardial infarction and target lesion revascularization in Q4 were higher than those in Q1 ( P ＜ 0.05 ).The incidences of heart failure in Q3 and Q4 were higher than that in Q1 ( P ＜ 0.05 ).③Univariate analysis demonstrated that CysC,creatinine,LVEF,age,history of PCI and NYHA grade ≥3 were the risk factors of poor prognosis (P ＜ 0.05 ).④ Multivarite cox hazards regression revealed that the elevation of CysC level remained an independent predictor of adverse cardiovascular events.The relative risk of Q3 and Q4 were 3.930 (95％ CI 1.306-11.829,P =0.015 ) and 6.380 (95％ CI 2.171-18.751,P =0.001 ) compared with Q1.⑤　The cumulative rates of survival without adverse cardiovascular events in Q2,Q3 and Q4 decreased compared with Q1 (P ＜ 0.001 ).Conclusions High plasma CysC concentration is an independent predictor of adverse cardiovascular events in patients with ACS after PCI.

Objective To induce human umbilical cord mesenchymal stem cells (hUC-MSCs) to hair-cell like cells in the inner ear, using a two-step neural differentiation method.Methods The hUC-MSCs were obtained from human umbilical cords by tissue adherence culture,whose surface antigen CD29, CD34, CD44, CD45, CD90, HLA-ABC, and HLA-DR could be identified by flow cytometry.In the neural stem cells induced phase, the NSE positive cells were analyzed by microscope and immunohistochemistry.In the second stage, the expression of hair-cell like cells markers (Math1, MyosinⅦa, Brn3c) were tested by qRT-PCR and immunofluorescence method.Results The control group and the protocol group had little NSE after differentiation while the protocol B group presented a neurobiological structure and demonstrated a higher NSE positive ratio after 5 days' neural stem cells induction (P<0.05).Compared to the control group, the mRNA and protein level of Math1, MyosinⅦa, and Brn3c exhibited a significant increase in the differential group,which induced for 4 weeks in the hair-cell like cells in the inner ear's induced phase(P<0.05).Conclusion The two-stage induction (hUC-MSCs-neural stem cells-hair-cell like cells) could produce more MyosinⅦa,Brn3c and Math1,which may provide an appropriate way to treat sensorineural deafness.

Objective To investigate the predictive value of metabolic syndrome in patients with acute coronary syndrome (ACS) after percutaneous coronary intervention (PCI).Methods A total of 660 patients with ACS admited to cardiovascular department,first affiliated hospital of zhengzhou university were enrolled in this study from January 2009 to June 2010.The enrollment criteria were:the stenosis degree were above 75％ in at least one coronary artery by coronary angiography and successful PCI procedure.Exculsion criteria were:liver and renal insufficiency,malignancies and valvular heart diseases.The relevant clinical data and labtory examination were recorded after admission. The patients were followed up by outpatients interview or telephone from March to June 2011 and adverse cardiovascular events were recorded.The patients were divided into MS and non-MS groups,and basic clinical data were compared between two groups.The proportion difference between two groups were tested by chi square. Multivariate logistic regression was established to analyze the factors related to progonosis.The survival ratio was estimated using the Kaplan-Meier method.Statistical significance was established at a P value of less than 0.05.Results ①A total of 606 (91.7％) patients successfully accepted follow-up.Mean follow-up time were ( 14.3 ±1.7 ) months.95 patients experienced adverse cardiovascular events ( 15.7％ ).②There were 393 patients (64.96％ ) satisfied the definition of metabolic syndrome.The patients in MS group were with higher BMI,SBP,DBP,blood glucose and disordered lipid (all P ＜ 0.05 ),with less fale patients (P =0.016),less current somking (P =0.008 ) and with higher platelet (P =0.037 ). The incidence of adverse cardiovascular events in two groups were 17.81％ and 11.79％ ( P ＞ 0.05 ). ③ Multivarite logistic regression revealed that the predictors of adverse cardiovascular events were age [ OR =2.628,95％ confidence interval (CI) 1.395 ～ 4.954,P =0.003 ],New York Heart Association (NYHA) ≥ 3 grade ( OR =2.310,95％ CI 1.095 ～4.870,P =0.028) and left ventricular ejection fraction (LVEF) ( OR =4.328,95％ CI 1.955 ～9.580,P ＜ 0.001 ).However,MS was not related with prognosis ( OR =1.170,95％ CI 0.583 ～ 2.345,P =0.659 ).④The cumulative survival rates of no adverse cardiovascular events in the two groups were no significant difference ( P ＞ 0.05 ).Conclusions MS is a risk factor with coronary heart disease.Howerer,it has no relationship with adverse cardiovascular events in patients with ACS after PCI.

Objective:To evaluate the influence of goal-directed volume management based on cardiac output index (CI), intrathoracic blood volume index (ITBVI) and extravascular lung water index (EVLWI) in patients undergoing off-pump coronary artery bypass surgery.Methods:Forty patients (ASA 2 to 3 grade) undergoing off-pump coronary artery bypass surgery in Lanzhou University Second Hospital from January 2017 to December 2018 were selected. The patients were divided into 2 groups by random digits table method with 20 cases in each group: study group (goal-directed fluid therapy treatment with CI, ITBVI and EVLWI) and control group (conventional fluid therapy). The control group was given central venous pressure (CVP) monitoring rehydration, and the study group was given PiCCO hemodynamic monitoring indicators. The CVP, CI, ITBVI and EVLWI for fluid management were measured. Accurate assessment of volume status of patients was done. The study group received goal-directed fluid therapy based on CVP, CI, ITBVI and EVLWI, with the goal of CI in the 3.0 to 5.0 L/(min·m 2) range, ITBVI in the 800 to 1 000 ml/m 2 range and EVLWI in the 3.0 to 7.0 ml/kg range. The heart rate, mean arterial pressure (MAP), urine volume, central venous oxygen saturation (ScvO 2), lactic acid and renal function were monitored. The ventilator withdrawal time, hospitalization in ICU, length of stay, incidence of acute pulmonary edema, incidence of acute renal failure, mortality of 30 d after surgery were recorded and compared between the two groups. Results:Tissue perfusion and urine volume of the study group was significantly improved compared with that of control group ( P<0.05). ScvO 2 of the study group was higher than that of the routine group ( P<0.05). The concentration of lactic acid of the study group was lower than that of the routine group ( P<0.05). The incidences of acute pulmonary edema, acute renal insufficiency and mortality of the study group were lower than those of the routine group (5.0% vs. 15.0%, 5.0% vs. 10.0% and 5.0% vs. 15.0%), and there were statistical differences ( P<0.05). The length of stay and hospitalization in ICU were both lower than those in the control group ( P<0.01). Conclusions:Goal-directed fluid therapy based on CI, ITBVI and EVLWI can effectively optimize the cardiac preload of patients undergoing off-pump coronary artery bypass surgery, improve cardiac output, ensure microcirculation perfusion, maintain the balance of oxygen supply and demand, and reduce the incidence of complications and mortality.

Objective To evaluate the effects of GLYX-13 on cognitive function after long-time isoflurane anesthesia in mice. Methods A total of 192 healthy male C57∕B6J mice, aged 8 weeks, weig-hing 22-25 g, were divided into 4 groups(n=48 each)using a random number table: control group (group C), isoflurane anesthesia group(group I), GLYX-13 group(group G), and isoflurane anesthesia plus GLYX-13 group(group IG). The animals were exposed to 15% isoflurane for 6 h in I and IG groups. GLYX-13 1 mg∕kg was injected via the caudal vein at 2 h before anesthesia in G and IG groups. Novel ob-ject recognition test and contextual fear conditioning test were performed on 1st, 3rd and 7th days after an-esthesia. The expression of 2B subunits-containing NMDA receptor(NR2B)and cyclic adenosine mono-phosphate response element-binding protein(CREB)mRNA in the hippocampus was detected by quantita-tive real-time polymerase chain reaction after the end of behavioral tests on 1st, 3rd and 7th days after anes-thesia. Results Compared with group C, the percentage of time spent in exploring a novel object, dis-crimination index and percentage of freezing time were significantly decreased, and the expression of NR2B and CREB mRNA in the hippocampus was down-regulated in group I(P <005). Compared with group I, the percentage of time spent in exploring a novel object, discrimination index and percentage of freezing time were significantly increased, and the expression of NR2B and CREB mRNA in the hippocampus was up-regulated in group IG(P <005). Conclusion GLYX-13 can significantly improve the cognitive func-tion after long-time isoflurane anesthesia in mice.

This study is to investigate the protective effects of the SB203580 against radiation induced mortality and intestinal injury of mice. A total of 67 male C57BL/6 mice (20.0-22.0 g) were matched according to body weight and randomly assigned to one of three groups: control, total body irradiation exposure (IR, 7.2 Gy) only, and IR (7.2 Gy) + SB203580 (15 mg x kg(-1)). 30 days survival rate was observed in the experiment. In intestinal injury experiment, the expression levels of caspase-3, Ki67, p53 and p-p38 were assayed in the mice intestine crypts. The results showed that the 30 days survival rate was 100% (control), 0 (IR) and 40% (IR+ SB203580), separately. Compared to the IR groups, the positive cells of caspase-3, p53 and p-p38 in crypt cells decreased 33.00%, 21.78% and 34.63%, respectively. The rate of positive cells of Ki67 increased 37.96%. Significant difference was found between all of them (P < 0.01). SB203580 potently protected against radiation-induced lethal and intestinal injury in mice, and it may be a potential radio protector.

OBJECTIVETo evaluate the long-term outcomes of coronary artery disease patients with left main stem and/or multi-vessel disease receiving percutaneous coronary intervention (PCI) or coronary artery bypass graft(CABG).

METHODSPubMed, EMBase, Cochrane central register of controlled trials were searched to identify randomized controlled trials concerning the long-term outcomes of PCI and CABG in coronary artery disease patients with left main stem and/or multi-vessel disease before May 2013.Keywords included "angioplasty", "coronary", "coronary artery bypass surgery" and "stent". The data were analyzed by STATA 12.0.

RESULTSSix randomized controlled trials (5 071 patients) were enrolled for analyses.Five years all-cause mortality (RR = 1.13, 95% CI: 0.88-1.44, P = 0.35), incidence of myocardial infarction (RR = 1.20, 95% CI: 0.69-2.07, P = 0.53), and angina (RR = 1.17, 95% CI: 0.88-1.57, P = 0.28) were similar between PCI and CABG groups. Major adverse cardiac and cerebrovascular event (RR = 1.85, 95% CI: 1.38-2.48, P < 0.01) and repeat revascularization (RR = 3.48, 95% CI: 2.20-5.53, P < 0.01) were significantly higher in PCI compared to CABG.

CONCLUSIONSThe present analysis suggests that 5 years all-cause mortality is similar between PCI and CABG strategies.However, PCI is associated with higher major adverse cardiac and cerebrovascular event and repeat revascularization rate compared to CABG in patients with unprotected left main stem and/or multi-vessel disease.

Coronary Artery Bypass ; Coronary Artery Disease ; mortality ; surgery ; Humans ; Incidence ; Myocardial Infarction ; Percutaneous Coronary Intervention ; Randomized Controlled Trials as Topic ; Stents ; Treatment Outcome

OBJECTIVETo evaluate the efficacy of noninvasive ventilation on in-hospital mortality in adult patients with acute cardiogenic pulmonary edema (ACPE) .

METHODSWe searched PubMed, Embase, Wanfang, CNKI data to find relevant randomized controlled trials of noninvasive ventilation for ACPE, which were reported from January 1980 to December 2012. Meta-analysis was performed with software of RevMan 5.1.

RESULTSAccording to inclusive criteria and exclusion criteria, 35 randomized controlled trials with 3 204 patients were enrolled for analyses. Meta-analysis of the trials showed that continuous positive airway pressure (CPAP) reduced in-hospital mortality by 43% (RR = 0.57, 95%CI 0.43-0.75, P < 0.01) and bilevel positive pressure ventilation (BiPAP) reduced mortality by 31% (RR = 0.69, 95%CI 0.51-0.94, P = 0.02) compared with standard therapy. There were no significant differences in in-hospital mortality between BiPAP and CPAP (RR = 1.09, 95%CI 0.80-1.49, P = 0.57) and myocardial infarction rate (BiPAP vs. CPAP: RR = 1.20, 95%CI 0.95-1.52, P = 0.12; BiPAP vs. standard therapy: RR = 1.10, 95%CI 0.88-1.38, P = 0.40).

CONCLUSIONNoninvasive ventilation (BiPAP and CPAP) could reduce in-hospital mortality of adult patients with ACPE, which could be used as first-line management strategies for these patients.

Acute Disease ; Continuous Positive Airway Pressure ; Hospital Mortality ; Humans ; Noninvasive Ventilation ; Pulmonary Edema ; mortality ; therapy ; Randomized Controlled Trials as Topic