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Congenital cataract is caused by reduced transparency of the lens resulting from metabolic disorders during the fetal period. The disease shows great heterogeneity both clinically and genetically. We identified a 4-generation ethnic Han Chinese family affected by autosomal dominant congenital perinuclear cataract. The patients underwent full clinical and ophthalmologic examinations to rule out any concomitant disorders. Blood samples were collected and genomic DNA was extracted. Potential mutations in the candidate gene alpha A crystallin (CRYAA) were screened. Prenatal diagnosis was then provided for a fetus of the affected proband by chorionic villus sampling. In all patients, DNA sequencing of the CRYAA gene revealed a novel 3-bp deletion mutation in exon 3 (c.246_248delCGC), which led to deletion of codon 117 encoding arginine (p.117delR) in the peptide chain. The same mutation was not found among unaffected and healthy individuals. Bioinformatic analysis revealed that although the c.246_248delCGC is an 'in-frame' mutation, removal of arginine resulted in a significant change in the protein structure. The fetus did not possess this mutation and was confirmed to be healthy at 1-year follow-up. A novel disease-causing mutation, c.246_248delCGC (p.117delR), of the CRYAA gene has been identified in a Chinese family with autosomal-type perinuclear congenital cataracts. This is also the first report of prenatal diagnosis of this type of congenital cataract.

We studied the effect of vasoactive intestinal peptide (VIP) on angiogenesis in the ischemic boundary area after focal cerebral ischemia. Adult male Sprague-Dawley rats underwent middle cerebral artery occlusion for 2 h. A single dose of VIP was given via i.c.v. injection at the beginning of reperfusion. Immunohistochemistry and Western blotting were performed to assay angiogenesis and brain levels of vascular endothelial growth factor (VEGF) protein, respectively. In addition, the expression of VEGF and its receptors (flt-1 and flk-1), as well as endothelial proliferation, was measured using rat brain microvascular endothelial cells. Immunohistochemical analyses revealed significant (P

BACKGROUND: Total steroidal saponins of Paris polyphylla Sm. var. yunnanensis (TSSP) have been widely used in China for the treatment of abnormal uterine bleeding (AUB). But until now, the main active constituents and the mechanisms underlying the pharmacological actions on uterine activity have not been described. METHODS: Total steroidal saponins were extracted with EtOH and purified by chromatography. In vitro isometric contraction studies were performed using myometrial strips from estrogen-primed or pregnant rats. Intracellular calcium was monitored under a confocal microscope using Fluo-3 AM-loaded myometrial cells. RESULTS: TSSP dose-dependently induced phasic myometrial contractions in vitro. Experiments with calcium channel blockers or kinase inhibitors demonstrated that the TSSP-stimulated myometrial contraction was mediated by an increase in [Ca(2+)](i) via influx of extracellular calcium and release of intracellular calcium. Through bioassay-guided separation, it was found that total spirostanol saponins exhibited contractile activity in myometrium and Pennogenin-3-O-alpha-L-arabinofuranosyl(1-->4)[alpha-L-rhamnopyranosyl(1-->2)]-beta-D-glucopyranoside (PARG) was identified as the active ingredient of TSSP. Furthermore, the contractile response of rat myometrium to PARG was significantly enhanced with advancing pregnancy. CONCLUSIONS: These data provide evidence that myometrial contractility stimulated by TSSP results from [Ca(2+)](i) increase and supports the possibility that some spirostanol gylcosides may represent a new type of contractile agonist for the uterus.

This article describes China's present energy situation and China will be facing the challenges in the future as well as the strategic actions are to be taken. In order to promote the development and utilization of renewable energy, improve the energy structure, diversify energy supplies, safeguard energy security, protect the environment, and realize the sustainable development of the economy and society, some renewable energy policies is hereby prepared by the government. China has become the top investor in renewable energy in the world.

Plasma CXC-Chemokine Ligand 10, 12 and 16 Levels correlate significantly with patients' clinical characteristics in Idiopathic Pulmonary Arterial Hypertension. Purpose: To compare the plasma levels of CXC-Chemokine Ligand 10 (CXCL10), CXC-Chemokine Ligand 12 (CXCL12), CXC-Chemokine Ligand 16 (CXCL16) and Growth Differentiation Factor 15 (GDF-15) in Idiopathic Pulmonary Arterial Hypertension (IPAH) patients and healthy controls, and to investigate the correlation between these biomarkers and clinical characteristics in IPAH patients. Methods: Patients with IPAH conformed by right heart catheterization and age/sex matched volunteers were enrolled prospectively in this study. Venous blood samples were collected immediately after right heart catheterization. Data of World Health Organization Function Class, six minites walk distance (6MWD), echocardiography and hemodynamic parameters were collected. Plasma levels of the interest biomarkers were measured by enzyme-linked immunosorbent assay (ELISA). Results: We recruited 61 IPAH patients and 20 controls, plasma CXCL10, CXCL12, CXCL16 and GDF-15 concentrations were increased significantly in patients compared with controls (202.79±104.58 pg/ml vs 103.56±65.00 pg/ml, 2656.55±459.52 pg/ml vs 2323.02±400.87 pg/ml, 2.83±0.62 ng/ml vs 2.28±0.47 ng/ml, and 810.80±466.20 pg/ml vs 331.69±109.04 pg/ml). Levels of CXCL10 correlated significantly with Right End-Diastolic Ventricular Diameter (RVEDD), mean right atrial pressure (mRAP), right ventricular cardiac index (RVCI) and NT-proBNP. Concentration of CXCL12 correlated significantly with 6MWD, mRAP, RVCI and NT-proBNP, in addition, CXCL16 correlated significantly with 6MWD and N-Terminal Pro Brain Natriuretic Peptide (NT-proBNP). The ROC curves analyses demostrated that CXCL10 was the best for best distinguishing CI