Whole-exome sequencing and functional validation reveal a rare missense variant in MMP7 that confers ovarian endometriosis risk.

Prior studies have shown that genetic factors play important roles in ovarian endometriosis. Herein, we first analyzed the whole-exome sequencing data from 158 patients with ovarian endometriosis and 385 local control women without endometriosis. Among which, a rare missense variant in the MMP7 (p.

Endometrial stromal cell proteomic analysis reveals LIM and SH3 protein 1 (LASP1) plays important roles in the progression of adenomyosis.

Adenomyosis is one of the most common gynecological disorders that the molecular events underlying its pathogenesis remain not fully understood. Prior studies have shown that endometrial stromal cells (ESCs) played crucial roles in the pathogenesis of adenomyosis. In this study, we utilized two-dimensional gel electrophoresis combined with protein identification by mass spectrometry (2D/MS) proteomics analysis to compare the differential protein expression profile between the paired eutopic and ectopic ESCs (EuESCs and EcESCs) in adenomyosis, and a total of 32 significantly altered protein spots were identified.

Efficacy of intravitreal Lucentis injection on major and macular branch retinal vein occlusion.

Background: The objective of our study was to assess the efficacy of intravitreal Lucentis injection on major and macular branch retinal vein occlusion (BRVO).

Methods: In this retrospective analysis, 43 patients (major BRVO n = 24; macular BRVO, n = 19) were treated with intravitreal injection of Lucentis with a 1 + PRN regimen, which is diagnosed by fluorescein fundus angiography (FFA). "1 + PRN", namely, one intravitreal injection of Lucentis at the baseline, and then continue or stop according to the condition of the patient.

Efficacy of ranibizumab combined with photodynamic therapy on wet age-related macular degeneration.

Efficacy and safety of intravitreal ranibizumab (IVR) combined with photodynamic therapy (PDT) in treating wet age-related macular degeneration (wAMD) were studied. A total of 130 eyes were collected from 130 wAMD patients treated in Affiliated to Qingdao University Yuhuangding Hospital of Yantai, of which 65 were given IVR combined with PDT (combination therapy group) and the remaining 65 were treated with simple IVR (ranibizumab group). The differences in best corrected visual acuity (BCVA), central macular thickness (CMT), intraocular pressure, choroidal neovascularization (CNV) leakage, levels of serum vascular endothelial growth factor (VEGF) and transforming growth factor-β1 (TGF-β1) as well as complication rate were compared before and after treatment between the two groups.

Intravitreal injection of conbercept combined with retinal photocoagulation on macular edema secondary to branch retinal vein occlusion.

Effects of Conbercept combined with retinal photocoagulation on macular edema secondary to branch retinal vein occlusion (BRVO) were investigated. A total of 98 patients (98 eyes) with macular edema secondary to BRVO were collected. The central macular thickness (CMT), incidence rate of complications after treatment and best corrected visual acuity (BCVA) were recorded.

Mutational analysis of the RAS/RAF/MEK/ERK signaling pathway in 260 Han Chinese patients with cervical carcinoma.

Prevalent mutations in the mitogen-activated protein kinase 1 (MAPK1)/extracellular signal-regulated kinase 2 (ERK2) pathway have been identified in cervical squamous cell carcinoma in a large-scale genome sequencing effort. Furthermore, mutations in the rat sarcoma viral oncogene homolog (RAS)/Raf/Mitogen-activated protein kinase kinase (MEK)/extracellular signal-regulated kinase (ERK) signaling pathway have also been revealed to have important roles in the pathogenesis of human cancer. However, whether the potential hotspot mutations in ERK2 and other components of the RAS/RAF/MEK/ERK signaling pathway also exist in Chinese patients with cervical carcinoma remains to be elucidated.

Quantification of monohydroxylated polycyclic aromatic hydrocarbons in human urine samples using solid-phase microextraction coupled with glass-capillary nanoelectrospray ionization mass spectrometry.

Polycyclic aromatic hydrocarbons (PAHs) are environmental contaminants with carcinogenic effect raising worldwide concerns. Hydroxylated PAHs (OH-PAHs) could be formed in the body as metabolites of PAHs in human urine samples and thus considered as biomarkers of PAH exposure. In this study, five OH-PAHs including 3-phenanthrol, 1-naphthol, 2-hydroxy fluorene, 1-hydroxprene and 6-hydroxy chrysene in human urine samples were selectively enriched by C18 solid-phase microextraction (SPME), then SPME fiber was connected high voltage and then was inserted into a glass-capillary to elute and ionize the analytes for mass spectrometric (MS) detection.