Transcatheter aortic valve implantation (TAVI) has become the main treatment for elderly patients with middle and high risk aortic stenosis. However, coronary artery occlusion (CAO) related to TAVI is a very serious complication, which often leads to poor prognosis. Therefore, active preoperative prevention is particularly important. Preoperative computed tomography evaluation, bioprosthetic or native aortic scallop intentional laceration and chimney stent implantation technology can prevent TAVI-related coronary orifice obstruction. Ensuring commissural alignment during operation can reduce the occurrence of coronary occlusion, but its long-term prognosis needs further study. In addition, percutaneous coronary intervention is the main treatment, but there are problems such as difficult coronary access after TAVI. This article summarized the research progress in the mechanism, prevention and treatment of CAO related to TAVI.

Objective:To observe and analyze the pathogenic gene types and clinical phenotypes of Leber congenital amaurosis (LCA).Methods:A retrospective clinical study. Six patients with LCA confirmed by genetic testing and 18 family members were included in the study. The patients came from six unrelated families. The family was investigated with a specific hereditary eye disease enrichment panel which contained 463 known pathogenic genes and based on targeted exome capture technology first to indentify the potential pathogenic genes and mutations. Then the TULP1 , RPGRIP1 , GUCY2D pathogenic mutations were conformed by Sanger sequencing. The pathogenicity of the gene variation was searched through relevant databases and PubMed literature, and its function was explained by protein prediction software. Results:Of the 6 patients, 3 were males and 3 were females; the age was from 3 to 33 years. Nystagmus, finger pressing eyes, photophobia, and night blindness were seen in 5 cases; electroretinogram showed 3 cases of extinction or near extinction; and 4 cases of retinopathy. The results showed patients with compound heterozygous mutation of c.1318C> T and c.1142T> G, homozygous mutation ofc.1318C> T and compound heterozygous mutation of c.1153G> A and c.1561C> T of TULP1 in Family 1, Family 2 and Family 5, respectively. There were compound heterozygous mutations of RPGRIP1 c.391delG and c.1468-2A> G in Family 3 and c.715delA and c.1765C> T in Family 6, respectively. Homozygous mutation of c.3177_3178delAC of GUCY2D was found in Family 4.The parents of all six patients were carriers of corresponding heterozygous mutations. TULP1 gene c.1142T> G, RPGRIP1 gene c.391delG, c.715delA and c.1765C> T and GUCY2D gene c.3177_3178delAC mutations were novel mutations and unreported. The 381th amino acid locus of product protein of TULP1 gene was highly conserved among species. The protein prediction software predicted that the mutation pathogenic. The c.391delG, c.715delA and c.1765C> T mutations of RPGRIP1 gene and c.3177_3178delAC mutation of GUCY2D gene can lead to early translation termination of their product proteins, which are pathogenic variants. Conclusion:The pathogenic mutations of TULP1, RPGRIP1 and GUCY2D genes led to LCA 15, LCA 6 and LCA 1 in six families.

Activating metabolite glutamate receptor 8 (mGluR8) has anti-hyperpathia effect in central nervous system, however, studies of effects in gastrointestinal tract are rare. Visceral hypersensitivity is one of the pathogenesis factors of irritable bowel syndrome (IBS). Aims: To investigate the effect and potential mechanism of activating mGluR8 on visceral hypersensitivity in neonatal maternally separated (NMS) rats. Methods: Twenty-four male newborn SD rats were randomly divided into normal control (NC) group, NMS group and mGluR8 agonist (S)-3, 4-DCPG group (3, 10 mg/kg). Newborn rats were subjected to 3 hours daily maternal separation on postnatal day 2-14 to establish the NMS model; in (S)-3, 4-DCPG group, (S)-3, 4-DCPG (3 or 10 mg/kg) were administered 1 hour prior to the visceral sensitivity test in NMS rats. Abdominal withdrawal reflex (AWR) score and abdominal electromyography (EMG) activity were used to measure visceral sensitivity. mGluR8 mRNA and protein expressions in colon mucosa were measured by RT-PCR and Western blotting, respectively; TNF-α, IL-1β and IL-6 mRNA expressions in colon mucosa were measured by RT-PCR. The protein expression of myeloperoxidase (MPO) was measured by immunohistochemistry. Results: AWR score and EMG activity in NMS group were significantly higher than those in NC group under different colorectal distension (CRD) pressure. AWR score and EMG activity were significantly decreased in (S)-3, 4-DCPG group. mGluR8 mRNA and protein expressions in NMS group were significantly higher than those in NC group (P<0.05). Compared with NMS group, TNF-α mRNA expression was significantly decreased in 3 mg/kg (S)-3, 4-DCPG group (P<0.05), and MPO protein expression was significantly decreased in 10 mg/kg (S)-3, 4-DCPG group (P<0.05). Conclusions: Activating mGluR8 attenuates visceral hypersensitivity in NMS rats, the mechanism may be related to decrease of pro-inflammatory cytokine TNF-α.

Objective To explore if any rules in electrocardiogram changes after transcatheter closure of perimembranous ventricular septal defects ( PMVSD ) . Methods We included all the 358 patients who have accepted transcatheter closure of PMVSD in our hospital between July 2006 to October 2014 and the electrocardiogram (ECG) done in hospital and during follow up in 1,3, 6 and 12 months after operation were all reviewed. Results No changes were found in heart rates and electrical axis during follow-up as compared to preclosure ECG. PR interval was shorter, the QRS duration and QT interval were longer than preclosure. Incidence rate of arrhythmia was 38. 0% ( 136/358 ) and incidence rate of serious arrhythmias ( including Ⅱ° or Ⅲ° atrioventricular block and complete left bundle branch block) was 5. 0%(18/358). Among the 180 patients who had ECG done in all follow up between the first 12 months post closure, the rates of new developed arrhythmias was 12. 8% ( 23/180 ) and severe arrhythmia was 0. 6%(1/180) during follow-up. Conclusions Incidence rate of serious arrhythmias after transcatheter closure of PMVSD is low and most patients have good clinical outcome.

Objective To evaluate the difference in coronary microcirculation and short term prognosis in patients with different collateral circulation and underwent elective percutaneous coronary intervention ( PCI) with complete occlusion of coronary artery. Methods The study included 42 patients who had been admitted in our hospital for NSTEMI or STEMI between 01/2012 to 12/2015 without receiving revascularization treatment and whose symptoms persisted for over 6 months. According to the results of coronary angiography and the Rentrop grade, the patients were divided into 2 groups: poor collateral circulation formation group (group A, Rentrop=0 -1, n=17) and well established collateral circulation group (group B, Rentrop=2-3, n=25). The basic clinical data and the result of coronary angiography were compared. A pressure-temperature sensor wire was used to measure index of mierocirculatory resistance ( IMR) immediately after PCI. An echocardiograph was used to measure left ventricular end systolic diameter ( LVEDd) and left ventricular ejection fraction ( LVEF) postoperatively and again at 3 months after operation to evaluate the changes in cardiac function. Results The IMR value of group A was significantly higher than group B (P﹤0. 05), the grade of collateral circulation had negative correlation with IMR value (r=-0. 671, P﹤0. 05). The mean changes in LVEDd in 3 months in group B was -0. 28 mm, while in group A was 5. 76 mm (P﹤0. 05). The mean changes in LVEF in 3 mouths in group B was 5. 36% and in group A was -3. 82% (P﹤0. 05). The grading of coronary collateral circulation had negative correlation with the changes of LVEDd in 3 months (r= -0. 669, P﹤0. 05), but had positive correlation with the changes of LVEF (r=0. 657, P ﹤0. 05). The IMR value had positive correlation with the changes of LVEDd in 3 months (r=0. 686, P﹤0. 05), but had negative correlation with the changes of the LVEF (r= -0. 664, P﹤ 0. 05 ) . Conclusions Patients with poor collateral circulation was more prone to coronary microcirculatory injury than patients with good collateral circulation. Patients with good collateral circulation and microcirculation had better prognosis after the revascularization of the infarction-related vessel.

OBJECTIVETo identify the casual mutation of a Chinese pedigree with hypertrophic cardiomyopathy (HCM), and to analyze the genotype-phenotype relationship.

METHODSThe coding exons of 26 reported disease genes were sequenced by targeted resequencing in the proband and the identified mutation were detected with bi-directional Sanger sequencing in all family members and 307 healthy controls. The genotype-phenotype correlation was analyzed in the family.

RESULTSA missense mutation (c.2191C > T, p. Pro731Ser) in the 20th exon of MYH7 gene was identified. This mutation was absent in 307 healthy controls and predicted to be pathogenic by PolyPhen-HCM. Totally 13 family members carried this mutation, including 10 patients with HCM and 3 asymptomatic mutation carriers. The proband manifested severe congestive heart failure and 8 patients expressed various clinical manifestations of heart failure, including dyspnea, palpitations, chest pain, amaurosis or syncope. Five patients were diagnosed as HCM at the age of 16 or younger. One family member suffered sudden cardiac death.

CONCLUSIONSThe Pro731Ser of MYH7 gene mutation is a causal and malignant mutation linked with familiar HCM.

Adolescent ; Asian Continental Ancestry Group ; Base Sequence ; Cardiomyopathy, Hypertrophic ; ethnology ; genetics ; Death, Sudden, Cardiac ; Exons ; Humans ; Mutation, Missense ; Myosin Heavy Chains ; genetics ; Pedigree ; Phenotype ; Research Design ; Ventricular Myosins

Objective To identify the casual mutation of a Chinese pedigree with hypertrophic cardiomyopathy (HCM),and to analyze the genotype-phenotype relationship.Methods The coding exons of 26 reported disease genes were sequenced by targeted resequencing in the proband and the identified mutation were detected with bi-directional Sanger sequencing in all family members and 307 healthy controls.The genotype-phenotype correlation was analyzed in the family.Results A missense mutation (c.2191C>T, p.Pro731Ser) in the 20th exon of MYH7 gene was identified.This mutation was absent in 307 healthy controls and predicted to be pathogenic by PolyPhen-HCM.Totally 13 family members carried this mutation , including 10 patients with HCM and 3 asymptomatic mutation carriers.The proband manifested severe congestive heart failure and 8 patients expressed various clinical manifestations of heart failure , including dyspnea , palpitations , chest pain , amaurosis or syncope.Five patients were diagnosed as HCM at the age of 16 or younger.One family member suffered sudden cardiac death.Conclusions The Pro731Ser of MYH7 gene mutation is a causal and malignant mutation linked with familiar HCM.

Mean platelet volume (MPV) in patients with type 2 diabetes mellitus (DM) and coronary artery disease was increased significantly.In those with acute coronary syndrome,multi-vascular disease,obesity,and highvalue of HbA1C(＞7％),the MPV was much higher.Gisini coronary score,fasting blood glucose,high density lipoprotein cholesterol and HbA1C were the independent predictors of MPV in patients with DM and coronary artery disease.

Objective To study changes of neuroendocrine in patients with ST segment elevation acute myocardial infarction (STEMI) after using distal protection device (GuardWire PlusTM). Method Seventy patients with STEMI received percutaneous coronary intervention (PCI) in Municipal Hospital Qingdao, during September 2004 to December 2006. They were randomdy (random numbs) enrolled in this prospective and control study. All the patients were divided into 2 groups: the distal protection device group (GW) and the non-distal protection device group (NGW).The inclusion criteria were:onset within 6 hours, chest pain more than 30 minutes without response to nitroglycerin, two or more adjacent ST segnents elevated over 0.2 mv,the proximal or middle diameter of infarction artery over 3 mm, and the increased plasma creatine kinase. The exclusion criteria were fluctuation in hemodynamics, severe heart failure, arteriopathy of left main coronary artery, mechanical complications of acute myocardial infarction and multi-vessel disease scheduled for coronary artery bypass. The plasma levels of endothelin(ET) , plasma renin activity (PRA),aldosterone (ALD),angiotensin Ⅱ (Ang Ⅱ), norepinephrine (NE) and epinephrine (E) were measured on the day of operation and on the 1st,2nd,3rd and 5th day after operation, respectively. The t-test was used to compare those neuroendocrine elements between two groups. Results There were no differences in plasma levels of all the neuroendocrine elements between two groups before operation. Compared with the NGW group, the levels of neuroendocrine elements in the plasma rapidly decreased in the GW group at 1 d after the operation ( P ＜ 0.05). Conclusions In patients with ST segment elevation acute myocardial infarction, the distal protection device can decrease the changes in neuroendocrine.

Objective To study neuroendocrine change and clinical value of percutaneous thrombectomy system(GuardWire PlusTM)in treatment of patients with ST-elevation acute myocardial infarction(STEMI). Methods 72 patients with STEMI underwent percutaneous coronary intervention(PCI)were divided into A group(38 patients)with direct stent placement after thrombectomy and B group(34 patients) with primary PCI. The plasma levels of ET, PRA, ALD, AngⅡ, NE, E were measured on the day of operation and the first, second, third and fifth days after PCI. Left ventricular ejection fraction(LVEF) was measured by echocardiography at one week and three months after PCI. Results The stents were successfully implanted in two groups. All the neuroendocrine factors have no difference between the two groups before operation. The first and second day after PCI, the levels of ET, PRA, ALD, AngⅡand E were significantly lower in A gronp than those in B group(P 0.05). Conclusions Deteriorated neuroendocrine changes are significantly improved with thrombectomy, providing potential benefits on heart function.