The construction sector, as the prime culprit that aggravates greenhouse gas emissions, has initiated transitions in construction methods for emissions abatement. In such a context, prefabricated construction has been widely promoted in developing countries. This paper assesses the effects of three environmental policies: carbon tax, green subsidy, and unit subsidy on carbon allocation and emissions abatement of prefabricated construction supply chain (PCSC) consisting of a prefab manufacturer (PM) and a project developer (PD).
View Article and Find Full Text PDFGastroenterol Res Pract
January 2017
We used human gastric epithelial cells (GES-1) line in an ethanol-induced cell damage model to study the protective effect of and its modulation to NF-B signal pathway. The goal was to probe the molecular mechanism of decoction in the prevention of gastric ulcer and therefore provide guidance in the clinical application of on treating injuries from chronic nephritis, pleural effusion, gastric ulcer, and other ailments. The effects of -loaded serums on cell viability were detected by MTT assays.
View Article and Find Full Text PDFPurpose: Next-generation sequencing-based methods are being adopted broadly for genetic diagnostic testing, but the performance characteristics of these techniques with regard to test accuracy and reproducibility have not been fully defined.
Methods: We developed a targeted enrichment and next-generation sequencing approach for genetic diagnostic testing of patients with inherited eye disorders, including inherited retinal degenerations, optic atrophy, and glaucoma. In preparation for providing this genetic eye disease (GEDi) test on a CLIA-certified basis, we performed experiments to measure the sensitivity, specificity, and reproducibility, as well as the clinical sensitivity, of the test.
Background: Loss of vision in glaucoma is due to apoptotic retinal ganglion cell loss. While p53 modulates apoptosis, gene association studies between p53 variants and glaucoma have been inconsistent. In this study we evaluate the association between a p53 variant functionally known to influence apoptosis (codon 72 Pro/Arg) and the subset of primary open angle glaucoma (POAG) patients with early loss of central visual field.
View Article and Find Full Text PDFPurpose: Genetically complex disorders, such as primary open angle glaucoma (POAG), may include highly heritable quantitative traits as part of the overall phenotype, and mapping genes influencing the related quantitative traits may effectively identify genetic risk factors predisposing to the complex disease. Recent studies have identified SNPs associated with optic nerve area and vertical cup-to-disc ratio (VCDR). The purpose of this study was to evaluate the association between these SNPs and POAG in a US Caucasian case-control sample.
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
August 2010
Purpose: To evaluate the variants of 10 genes for association with primary open-angle glaucoma (POAG) in a Chinese population.
Methods: A total of 405 unrelated patients with POAG (255 high-tension glaucoma [HTG], 100 normal-tension glaucoma [NTG], and 50 juvenile-onset open-angle glaucoma [JOAG]) and 201 control subjects were recruited. Seventeen variants in 10 genes with reported association with POAG were genotyped for analysis of allele and haplotype frequencies between cases and control subjects.
Invest Ophthalmol Vis Sci
August 2010
Purpose: Intraocular pressure (IOP) is an important risk factor in glaucoma. Gene expression changes were studied in glaucomatous rat retinal ganglion cells (RGCs) to elucidate altered transcriptional pathways.
Methods: RGCs were back-labeled with Fluorogold.
Low levels of hypoxia have been suggested to be a mechanism of retinal damage in glaucoma. To test the hypothesis that the activation of the hypoxia-responsive transcription factor hypoxia inducible factor-1alpha (HIF-1alpha) is involved in the pathophysiology of glaucoma, we used a rat model of glaucoma to study (1) HIF-1alpha retinal protein levels by immunoblot analysis, (2) cellular localization of HIF-1alpha in the retina by immunohistochemistry, and (3) expression of retinal HIF-1 gene targets by quantitative real-time polymerase chain reaction. Glaucoma was unilaterally induced in rats by injecting hypertonic saline in episcleral veins.
View Article and Find Full Text PDFPurpose: The PAX6 gene, located at the reported myopia locus MYP7 on chromosome 11p13, was postulated to be associated with myopia development. This study investigated the association of PAX6 with high myopia in 379 high myopia patients and 349 controls.
Methods: High myopia patients had refractive errors of -6.
Purpose: To determine the distribution of WD repeat domain 36 (WDR36) sequence variants in Chinese patients with primary open-angle glaucoma (POAG).
Methods: One hundred and thirty-five unrelated POAG patients (82 high tension glaucoma [HTG], 42 normal tension glaucoma [NTG], and 11 juvenile-onset POAG [JOAG] patients) and 77 unrelated controls were recruited. All 23 coding exons and splicing junctions of WDR36 were sequenced using BigDye Terminator v3.
Purpose: Triamcinolone acetonide (TA) and dexamethasone (DEX) are corticosteroids commonly used for ocular inflammation, but both can cause ocular hypertension. In this study, the differential gene expression profile of human trabecular meshwork (TM) cells in response to treatment by TA in comparison with DEX was investigated.
Methods: Total RNA was extracted from cultured human TM cells treated with TA or DEX and used for microarray gene expression analysis.
Purpose: This study was conducted to investigate the genetic component of three Chinese pedigrees originating from Hong Kong with autosomal dominant high myopia.
Methods: A whole-genome scan was performed by using microsatellite markers spanning the whole genome with an average spacing of 10 cM. Regions containing markers that yielded LOD scores >1.
Purpose: To evaluate the cytotoxic effect of triamcinolone acetonide (TA) on cultured human trabecular meshwork (TM) cells.
Methods: TA (0.1 mg/ml, 1 mg/ml) or the vehicle (benzyl alcohol, 0.
Purpose: We recently identified a novel glaucoma locus on 5q22.1-q32, designated as GLC1M, in a family from the Philippines with autosomal dominant juvenile-onset primary open angle glaucoma (JOAG). No mutations in myocilin (MYOC), optineurin (OPTN), and WD-repeat protein 36 (WDR36) were found.
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
December 2006
Purpose: To map the disease-associated locus of a family with autosomal dominant juvenile-onset primary open-angle glaucoma (JOAG).
Methods: A complete ophthalmic examination was conducted, and genomic DNA was obtained from 25 members of a Chinese family, of which eight were confirmed as having JOAG. Myocilin (MYOC), optineurin (OPTN), and WD repeat-domain 36 (WDR36) were screened for sequence alterations, by PCR and direct sequencing.
Objective: To make multi-central clinical evaluation for three-part massage therapy for treatment of insomnia of deficiency of both the heart and spleen.
Methods: One hundred and sixty-six cases were randomly divided into a test group (n = 84) and a control group (n = 82). Multi-central, randomized and controlled methods were adopted.
Purpose: To evaluate the role of apolipoprotein E (APOE) polymorphisms in primary open angle glaucoma (POAG).
Methods: A cohort of 400 unrelated Chinese POAG patients was examined, including 294 cases of high tension glaucoma (HTG) and 106 with normal tension glaucoma (NTG). Also studied were 300 unrelated Chinese control subjects.
Zhonghua Yi Xue Za Zhi
February 2006
Objective: To detect the single nucleotide polymorphisms (SNPs) of the myocilin (MYOC) and optineurin (OPTN) genes, and to investigate their associations with high tension glaucoma (HTG) and normal tension glaucoma (NTG).
Methods: SNPs were detected using polymerase chain reaction (PCR), followed by conformation sensitive gel electrophoresis (CSGE) and fluorescent labeling automated DNA sequencing among 94 unrelated patients with HTG, 48 unrelated patients with NTG, and 77 unrelated control subjects.
Results: Fourteen MYOC sequence alterations were identified, five of them: V53A, I304I, T347T, 1-126T > C, and IVS2 + 172C > A, were novel.
Purpose: To map the disease-associated locus of a family with autosomal dominant juvenile-onset primary open angle glaucoma (JOAG) and to screen the novel glaucoma gene WD repeat domain 36 (WDR36).
Methods: Complete ophthalmic examination and genomic DNA were obtained from 27 family members, in which nine were confirmed JOAG patients. Myocilin (MYOC), optineurin (OPTN), and WDR36 were screened for mutations by polymerase chain reaction and direct sequencing.
Eye diseases can be simple or complex, and mostly of heterogeneous molecular genetics. Some eye diseases are caused by mutations in a single gene, but some diseases, such as primary open angle glaucoma, can be due to sequence variations in multiple genes. In some diseases, both genetic and epigenetic mechanisms are involved, as was recently revealed in the mechanism of retinoblastoma.
View Article and Find Full Text PDFObjective: To search for the genetic cause of juvenile-onset open-angle glaucoma (JOAG) in a Chinese family.
Methods: In a 3-generation glaucoma family affected with JOAG or ocular hypertension, we screened myocilin (MYOC) and optineurin (OPTN) for mutations and investigated apolipoprotein E (APOE) polymorphisms in 6 family members, 2 of them patients with JOAG, 2 patients with ocular hypertension, and 2 patients who were asymptomatic. Normal controls included 200 unrelated Chinese subjects.
Primary open angle glaucoma (POAG) is a leading cause of visual impairment and blindness worldwide. To date, at least 20 genetic loci for POAG have been reported. Only 3 causative genes are identified from these loci: myocilin (MYOC), optineurin (OPTN) and WD repeat domain 36 (WDR36), which together account for less than 10% of POAG.
View Article and Find Full Text PDFObjective: To identify the mutation patterns of RHO and RP1 genes in the Chinese patients with retinitis pigmentosa (RP) and to explore their potential interactions in the pathogenesis of RP.
Methods: Sequence alterations in the entire coding region and splice sites of RHO and RP1 gene were screened in 151 RP affected probands and 150 unrelated controls who were all Hong Kong Chinese. Additional 46 relatives of 12 RP probands carrying possible mutations in RHO or RP1 were recruited for segregation analysis.
Purpose: To evaluate the association of myocilin (MYOC), optineurin (OPTN), and apolipoprotein E (APOE) genes and their interactions in primary open angle glaucoma (POAG).
Methods: A cohort of 400 unrelated POAG patients (294 high tension glaucoma, HTG, and 106 normal tension glaucoma, NTG) and 281 unrelated control subjects were recruited. All coding exons and splicing junctions in MYOC and OPTN were screened for sequence alterations.
Zhonghua Yan Ke Za Zhi
February 2005
Retinitis pigmentosa (RP) is a common genetic eye disease affecting about 1 in 3500 people worldwide with pan-ethnic occurrence. So far there is no effective treatment for RP. This paper gives an overview on recent advances in molecular genetics of RP with emphasis on the important gene mutations for diagnosis and prognosis, and a review on gene therapy of RP.
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