[Analysis of three Chinese pedigrees affected with recurrent hydatidiform mole due to variants of NLRP7 gene].

Objective: To explore the genetic etiology of recurrent hydatidiform mole (RHM) and provide accurate guidance for reproduction.

Methods: Peripheral venous blood samples of the probands with RHM and members from 5 unrelated pedigrees were collected. Genomic DNA was extracted by using routine method, and whole exome sequencing was carried out to detect variants of RHM-associated genes including NLRP7 and KHDC3L.

Functional Deletion/Insertion Promoter Variants in Associated With Increased Susceptibility to Lipid Profile Abnormalities and Coronary Heart Disease.

Genetic variants in Scavenger receptor Class B Type 1 () influencing high-density lipoprotein cholesterol (HDL-C) and coronary heart disease (CHD) risk were identified by recent genome-wide association studies. Further study of potential functional variants in may provide new ideas of the complicated relationship between HDL-C and CHD. 2000 bp in promoter region was re-sequenced in 168 participants with extremely high plasma HDL-C and 400 control subjects.

Genetic findings in patients with primary fibrotic atrial cardiomyopathy.

Primary fibrotic atrial cardiomyopathy (PF-ACM) is a novel type of cardiomyopathy characterized by primary atrial fibrosis with arrhythmogenicity and increased stroke risk without ventricular myocardium involvement. However, genetic analysis regarding PF-ACM and genotype-phenotype correlations is lacking. A cohort of PF-ACM patients was recruited and followed up.

Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.

Purpose: To identify the disease-causing genes of Chinese Han women with idiopathic premature ovarian insufficiency (POI).

Methods: Seventy-four Chinese Han women with idiopathic POI were collected to analyze the genetic etiology. Triplet repeat-primed polymerase chain reaction (TP-PCR) was performed to screen the FMR1 (CGG)n premutation, and then 60 POI-related genes were sequenced by targeted next-generation sequencing (NGS) in POI patients with normal FMR1.

A novel mutation in KCNH2 yields loss-of-function of hERG potassium channel in long QT syndrome 2.

Mutations in hERG (human ether-à-go-go-related gene) potassium channel are closely associated with long QT syndromes. By direct Sanger sequencing, we identified a novel KCNH2 mutation W410R in the patient with long QT syndrome 2 (LQT2). However, the electrophysiological functions of this mutation remain unknown.

Circumferential pulmonary vein antrum ablation for the treatment of paroxysmal atrial fibrillation: A randomized controlled trial.

Background: It remains unclear whether the curative result of paroxysmal atrial fibrillation (PAF) is a result of pulmonary vein (PV) isolation, PV antrum modification (PVAM), or both. We hypothesized that sufficient antrum modification (PVAM) is as important as PV isolation (PVI) for atrial fibrillation (AF) control and that PVAM can be evaluated by quantified lesion deployment using a force-sensing catheter.

Methods And Results: Patients of symptomatic PAF were randomly assigned 2:1 into a PVAM group or a circumferential PV isolation (CPVI) group.

A targeted sequencing approach to find novel pathogenic genes associated with sporadic aortic dissection.

Aortic dissection (AD) is a heterogeneous genetic disease of the aorta with high mortality and poor prognosis. However, only few genetic causes of AD have been explored till date. After conducting a broad literature review focused on identifying potential pathogenic pathways, we designed a panel containing 152 AD-associated genes to conduct massively parallel targeted next-generation sequencing of 702 sporadic aortic dissection patients and 163 matched healthy controls.

Atrial remodeling and metabolic dysfunction in idiopathic isolated fibrotic atrial cardiomyopathy.

Background: Idiopathic isolated fibrotic atrial cardiomyopathy (IIF-ACM) is a novel subtype of cardiomyopathy characterized by atrial fibrosis that does not involve the ventricular myocardium and is associated with significant atrial tachyarrhythmia. The mechanisms underlying its pathogenesis are unknown.

Methods: Atrium samples were obtained from 3 patients with IIF-ACM via surgical intervention.

Variants of genes encoding collagens and matrix metalloproteinase system increased the risk of aortic dissection.

Aortic dissection (AD) is a devastating, heterogeneous condition of aorta. The homeostasis between collagens and matrix metalloproteases (MMPs)/tissue inhibitors of MMPs (TIMPs) system in the extracellular matrix plays an important role for structure and functions of aorta. However, our knowledge on association between variants of genes in this system and pathogenesis of AD is very limited.

Effect of burden and origin sites of premature ventricular contractions on left ventricular function by 7-day Holter monitor.

Recent studies have shown that premature ventricular contractions (PVCs) could enlarge the heart, but its risk factors are incompletely understood as a single 24-hour recording cannot reflect the true PVC burden due to day-to-day variability. Our purpose was to investigate the effect of burden and origin sites on left ventricular (LV) function in patients with PVCs by 7-day Holter electrocardiography (ECG). From May 2012 to August 2013, 112 consecutive patients with PVCs were recruited from the authors' affiliated hospital.

Whole-exome sequencing identify a new mutation of MYH7 in a Chinese family with left ventricular noncompaction.

Background: Left ventricular noncompaction (LVNC) is a genetic cardiomyopathy results from the failure of myocardial development during embryogenesis. Previous reports show that defects in TAZ, SCN5A, TPM1, YWHAE, MYH7, ACTC1 and TNNT2 are associated with LVNC. Sequencing of individuals using family-based design is a powerful approach for hereditary disease.

Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene.

Pediatric restrictive cardiomyopathy is rare and most commonly idiopathic in origin. Here, we applied a candidate gene approach and identified a missense mutation in the cardiac troponin I gene in a 12-year-old Chinese girl with restrictive cardiomyopathy. This study indicates that mutation in sarcomere protein genes may play an important role in idiopathic pediatric restrictive cardiomyopathy.

[Clinical characteristics and genetic analysis of three pediatric patients with idiopathic restrictive cardiomyopathy].

Objective: Restrictive cardiomyopathy (RCM) is rare in children, and little is known about the molecular basis of RCM. The aim of this study was to investigate the clinical and myopathological characteristics and to detect mutations on cardiac sarcomere protein genes in three idiopathic pediatric RCMs.

Methods: Detailed clinical characteristics and familiar history were obtained in three idiopathic pediatric RCMs.

Establishment and evaluation of a swine model of acute myocardial infarction and reperfusion-ventricular fibrillation-cardiac arrest using the interventional technique.

Background: Ventricular fibrillation is the main cause of sudden cardiac death among patients with acute myocardial infarction (AMI). Substantial benefits could be obtained by both researchers and practitioners if an AMI reperfusion-ventricular fibrillation-cardiac arrest model were established.

Methods: Twenty swine were anesthetized and underwent occlusion of the left anterior descending branch for 90 minutes prior to blood reperfusion.

Intramyocardial Injection of Pig Pluripotent Stem Cells Improves Left Ventricular Function and Perfusion: A Study in a Porcine Model of Acute Myocardial Infarction.

Induced pluripotent stem (iPS) cells have the potential to differentiate to various types of cardiovascular cells to repair an injured heart. The potential therapeutic benefits of iPS cell based treatment have been established in small-animal models of myocardial infarction (MI). We hypothesize that porcine iPS (piPS) cell transplantation may be an effective treatment for MI.

Circulating microRNAs, novel biomarkers of acute myocardial infarction: a systemic review.

Background: MicroRNAs (MiRNA) are a novel class of non-coding RNAs involved in the regulation of gene expression post-transcriptionally by cleavage or translational repression of their specific target miRNAs. Numerous studies have demonstrated that circulating miRNAs are stable and abundant in blood and aberrantly expressed under pathological conditions, including cardiovascular diseases. The implications of circulating miRNAs in acute myocardial infarction have recently been recognized.

Poly[[diaqua-tris[μ(4)-(p-phenyl-enedi-oxy)diacetato]didysprosium(III)] dihydrate].

The title dysprosium coordination polymer, {[Dy(2)(C(10)H(8)O(6))(3)(H(2)O)(2)]·2H(2)O}(n), was synthesized by reacting dysprosium(III) nitrate and the flexible ligand (p-phenyl-enedi-oxy)diacetic acid under hydro-thermal conditions. Each Dy(III) ion is coordinated by nine O atoms in a tricapped trigonal prismatic geometry. The DyO(9) polyhedra form layers parallel to the bc plane.

Structural elucidation and identification of alkaloids in Rhizoma Coptidis by electrospray ionization tandem mass spectrometry.

Simple, convenient, sensitive and accurate analytical methods are needed for the structural characterization and identification of alkaloid components in Rhizoma Coptidis in traditional Chinese herbal medicine, which has important bioactivity. In this work, the identification of alkaloid compounds in Rhizoma Coptidis was investigated by obtaining molecular mass information using electrospray ionization mass spectrometry (ESI-MS). Multi-stage tandem mass spectrometric (ESI-MS(n)) data for the alkaloid compounds were used for detailed structural characterization, then structure information was obtained by comparison of the fragmentation mechanisms of both alkaloids in Rhizoma Coptidis and standard samples of berberine, palmatine, coptisine and jatrorrhizine by MS.

Studies on the non-covalent complexes between oleanolic acid and cyclodextrins using electrospray ionization tandem mass spectrometry.

Non-covalent inclusion complexes formed between an anti-inflammatory drug, oleanolic acid (OA), and alpha-, beta- and gamma-cyclodextrins (CDs) were investigated by means of solubility studies and electrospray ionization tandem mass spectrometry (ESI-MS(n)). The order of calculated association constants (K(1 : 1)) of complexes between OA and different CDs in solution is in good agreement with the order of their relative peak intensities and the relative CID energies of the complexes under the same ESI-MS(n) conditions. These results indicate a direct correlation between the behaviors of solution- and gas-phase complexes.