Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population

Background: Ventricular septal defects (VSDs) constitute the most prevalent congenital heart disease (CHD), occurs either in isolation (isolated VSD) or in combination with other cardiac defects (complex VSD). Copy number variation (CNV) has been highlighted as a possible contributing factor to the etiology of many congenital diseases. However, little is known concerning the involvement of CNVs in either isolated or complex VSDs. Methods: We analyzed 154 unrelated Chinese individuals with VSD by chromosomal microarray analysis. The subjects were recruited from four hospitals across China. Each case underwent clinical assessment to define the type of VSD, either isolated or complex VSD. CNVs detected were categorized into syndrom related CNVs, recurrent CNVs and rare CNVs. Genes encompassed by the CNVs were analyzed using enrichment and pathway analysis. Results: Among 154 probands, we identified 29 rare CNVs in 26 VSD patients (16.9 %, 26/154) and 8 syndrome-related CNVs in 8 VSD patients (5.2 %, 8/154). 12 of the detected 29 rare CNVs (41.3 %) were recurrently reported in DECIPHER or ISCA database as associated with either VSD or general heart disease. Fifteen genes (5 %, 15/285) within CNVs were associated with a broad spectrum of complicated CHD. Among these15 genes, 7 genes were in “abnormal interventricular septum morphology” derived from the MGI (mouse genome informatics) database, and nine genes were associated with cardiovascular system development (GO:0072538).We also found that these VSD-related candidate genes are enriched in chromatin binding and transcription regulation, which are the biological processes underlying heart development. Conclusions: Our study demonstrates the potential clinical diagnostic utility of genomic imbalance profiling in VSD patients. Additionally, gene enrichment and pathway analysis helped us to implicate VSD related candidate genes. Electronic supplementary material The online version of this article (doi:10.1186/s12920-015-0163-4) contains supplementary material, which is available to authorized users

Vibration modes of the rotor system of turbocharger with floating-ring bearing

In this paper, in order to investigate the natural modes of the rotor system of turbocharger, the analytical model of floating-ring bearing, the FEM and modal test technology were employed. Firstly, based on Reynolds equations of the dynamic oil layer of floating-ring bearing, the oil layer pressure was obtained by using the finite difference algorithm. Then the stiffness coefficients and damping coefficients were calculated by using integration method. Next the FEM model of rotor system with supporting stiffness of floating-ring bearings was established. Then the natural modes of rotor system were simulated with considering the oil layer stiffness of the floating-ring bearings and the rotor’s rotating speeds. Lastly, the natural modes were identified with modal test technology and furthermore the FEM calculation results were verified. The investigation shows that the oil layer stiffness of the floating-ring bearings and rotating speeds of the rotor have great influences on vibration modes of the rotor system

Two series of pH-dependent lanthanide complexes showing solvent-induced single crystal to single crystal transformation, sorption and luminescence properties

Two series of new lanthanide PCPs were produced under different pH values. Series B demonstrates fascinating solvent-induced dynamic behaviors in an SCSC manner.</p

Highly pH-dependent synthesis of two novel three-dimensional dysprosium complexes with interesting magnetic and luminescence properties

Two unprecedented Dy-MOFs with interesting magnetic and luminescence properties were obtained using identical starting materials and method but at different pH values.</p