391 research outputs found
Glaucoma Patients' Trust in the Physician
Objectives. To describe glaucoma patients' trust in the physician and to test the hypothesis that increased interpersonal trust is associated with increased medication adherence. Methods. One hundred ninety-five subjects with open-angle glaucoma seen by multiple glaucoma subspecialists participated in a cross-sectional patient survey and concomitant chart review which included a test of health literacy and the Trust in Physician Scale (TPS), a scale from 1–100, with 100 indicating greatest trust. Charts were reviewed for visual acuity and visual field results. Subjects' pharmacies were contacted to ascertain medication refill rates over the preceding six months. Results. TPS scores ranged from 57.5 to 100, 78.7 ± 8.4
(mean ± SD,) median 75.0. When age, race, gender, baseline visual acuity and visual field status, education level, and literacy status were considered, only race was associated with TPS. Caucasians expressed slightly higher levels of trust (n = 108; TPS 80.1 ± 8.2) than non-Caucasians, (n = 87 (82 Africans Americans); TPS 77.1 ± 8.4; P = .012). TPS score was not associated with refill rates (P = .190). Conclusions. Trust in physician is
generally high in this group of glaucoma patients but varies
slightly by race. Trust in physician was not associated with
glaucoma medication adherence in this tertiary care
population
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Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma
Purpose Mutations in the myocilin gene (MYOC) are associated with primary open-angle glaucoma (POAG) in many different populations. This study represents the first large survey of MYOC mutations in an African American population. Methods: We recruited 529 African American subjects with POAG and 270 African American control subjects in this study. A complete eye examination and blood collection was performed in all study subjects. Genomic DNA was extracted. The entire coding sequence of MYOC was amplified and sequenced using the Sanger method. Identified MYOC variants were compared with previously reported MYOC mutations. Results: We identified a total of 29 MYOC variants including six potential MYOC mutations. Two mutations (Thr209Asn and Leu215Gln) are novel and are found only in cases and no controls. We also identified four previously reported MYOC mutations in cases and no controls (Tyr453MetfsX11, Gln368X, Thr377Met, and Ser393Arg). The overall frequency of glaucoma-causing MYOC mutations in our African American population with POAG was 1.4%. Conclusions: We identified two novel probable glaucoma-causing MYOC mutations (Thr209Asn and Leu215Gln). This study indicates that, despite the high prevalence of POAG, MYOC mutations are rare in the African American population
GALC Deletions Increase the Risk of Primary Open-Angle Glaucoma: The Role of Mendelian Variants in Complex Disease
DNA copy number variants (CNVs) have been reported in many human diseases including autism and schizophrenia. Primary Open Angle Glaucoma (POAG) is a complex adult-onset disorder characterized by progressive optic neuropathy and vision loss. Previous studies have identified rare CNVs in POAG; however, their low frequencies prevented formal association testing. We present here the association between POAG risk and a heterozygous deletion in the galactosylceramidase gene (GALC). This CNV was initially identified in a dataset containing 71 Caucasian POAG cases and 478 ethnically matched controls obtained from dbGAP (study accession phs000126.v1.p1.) (p = 0.017, fisher's exact test). It was validated with array comparative genomic hybridization (arrayCGH) and realtime PCR, and replicated in an independent POAG dataset containing 959 cases and 1852 controls (p = 0.021, OR (odds ratio) = 3.5, 95% CI −1.1–12.0). Evidence for association was strengthened when the discovery and replication datasets were combined (p = 0.002; OR = 5.0, 95% CI 1.6–16.4). Several deletions with different endpoints were identified by array CGH of POAG patients. Homozygous deletions that eliminate GALC enzymatic activity cause Krabbe disease, a recessive Mendelian disorder of childhood displaying bilateral optic neuropathy and vision loss. Our findings suggest that heterozygous deletions that reduce GALC activity are a novel mechanism increasing risk of POAG. This is the first report of a statistically-significant association of a CNV with POAG risk, contributing to a growing body of evidence that CNVs play an important role in complex, inherited disorders. Our findings suggest an attractive biomarker and potential therapeutic target for patients with this form of POAG
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Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.
Importance:Primary open-angle glaucoma presents with increased prevalence and a higher degree of clinical severity in populations of African ancestry compared with European or Asian ancestry. Despite this, individuals of African ancestry remain understudied in genomic research for blinding disorders. Objectives:To perform a genome-wide association study (GWAS) of African ancestry populations and evaluate potential mechanisms of pathogenesis for loci associated with primary open-angle glaucoma. Design, Settings, and Participants:A 2-stage GWAS with a discovery data set of 2320 individuals with primary open-angle glaucoma and 2121 control individuals without primary open-angle glaucoma. The validation stage included an additional 6937 affected individuals and 14 917 unaffected individuals using multicenter clinic- and population-based participant recruitment approaches. Study participants were recruited from Ghana, Nigeria, South Africa, the United States, Tanzania, Britain, Cameroon, Saudi Arabia, Brazil, the Democratic Republic of the Congo, Morocco, Peru, and Mali from 2003 to 2018. Individuals with primary open-angle glaucoma had open iridocorneal angles and displayed glaucomatous optic neuropathy with visual field defects. Elevated intraocular pressure was not included in the case definition. Control individuals had no elevated intraocular pressure and no signs of glaucoma. Exposures:Genetic variants associated with primary open-angle glaucoma. Main Outcomes and Measures:Presence of primary open-angle glaucoma. Genome-wide significance was defined as P < 5 × 10-8 in the discovery stage and in the meta-analysis of combined discovery and validation data. Results:A total of 2320 individuals with primary open-angle glaucoma (mean [interquartile range] age, 64.6 [56-74] years; 1055 [45.5%] women) and 2121 individuals without primary open-angle glaucoma (mean [interquartile range] age, 63.4 [55-71] years; 1025 [48.3%] women) were included in the discovery GWAS. The GWAS discovery meta-analysis demonstrated association of variants at amyloid-β A4 precursor protein-binding family B member 2 (APBB2; chromosome 4, rs59892895T>C) with primary open-angle glaucoma (odds ratio [OR], 1.32 [95% CI, 1.20-1.46]; P = 2 × 10-8). The association was validated in an analysis of an additional 6937 affected individuals and 14 917 unaffected individuals (OR, 1.15 [95% CI, 1.09-1.21]; P < .001). Each copy of the rs59892895*C risk allele was associated with increased risk of primary open-angle glaucoma when all data were included in a meta-analysis (OR, 1.19 [95% CI, 1.14-1.25]; P = 4 × 10-13). The rs59892895*C risk allele was present at appreciable frequency only in African ancestry populations. In contrast, the rs59892895*C risk allele had a frequency of less than 0.1% in individuals of European or Asian ancestry. Conclusions and Relevance:In this genome-wide association study, variants at the APBB2 locus demonstrated differential association with primary open-angle glaucoma by ancestry. If validated in additional populations this finding may have implications for risk assessment and therapeutic strategies
Investigation of Known Genetic Risk Factors for Primary Open Angle Glaucoma in Two Populations of African Ancestry
Multiple genes have been associated with primary open angle glaucoma (POAG) in Caucasian populations. We now examine the association of these loci in populations of African ancestry, populations at particularly high risk for POAG
HIV/AIDS among youth in urban informal (slum) settlements in Kenya: What are the correlates of and motivations for HIV testing?
<p>Abstract</p> <p>Background</p> <p>Although HIV counseling and testing (HCT) is widely considered an integral component of HIV prevention and treatment strategies, few studies have examined HCT behavior among youth in sub-Saharan Africa-a group at substantial risk for HIV infection. In this paper we examine: the correlates of HIV testing, including whether associations differ based on the context under which a person gets tested; and the motivations for getting (or not getting) an HIV test.</p> <p>Methods</p> <p>Drawing on data collected in 2007 from 4028 (51% male) youth (12-22 years) living in Korogocho and Viwandani slum settlements in Nairobi (Kenya), we explored the correlates of and motivations for HIV testing using the Health Belief Model (HBM) as a theoretical framework. Multinomial and binary logistic regression analyses were employed to examine correlates of HIV testing. Bivariate analyses were employed to assess reasons for or against testing.</p> <p>Results</p> <p>Nineteen percent of males and 35% of females had been tested. Among tested youth, 74% of males and 43% of females had requested for their most recent HIV test while 7% of males and 32% of females reported that they were required to take their most recent HIV test (i.e., the test was mandatory). About 60% of females who had ever had sex received an HIV test because they were pregnant. We found modest support for the HBM in explaining variation in testing behavior. In particular, we found that perceived risk for HIV infection may drive HIV testing among youth. For example, about half of youth who had ever had sex but had never been tested reported that they had not been tested because they were not at risk.</p> <p>Conclusions</p> <p>Targeted interventions to help young people correctly assess their level of risk and to increase awareness of the potential value of HIV testing may help enhance uptake of testing services. Given the relative success of Prevention of Mother-to-Child Transmission (PMTCT) services in increasing HIV testing rates among females, routine provider-initiated testing and counseling among all clients visiting medical facilities may provide an important avenue to increase HIV status awareness among the general population and especially among males.</p
A common variant near TGFBR3 is associated with primary open angle glaucoma
Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10−33), we observed one SNP showing significant association to POAG (CDC7–TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10−8). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis
Measurement of double-parton scattering in inclusive production of four jets with low transverse momentum in proton-proton collisions at root s=13 TeV
A measurement of inclusive four-jet production in proton-proton collisions at a center-of-mass energy of 13 TeV is presented. The transverse momenta of jets within vertical bar eta vertical bar 4.7 are required to exceed 35, 30, 25, and 20 GeV for the first-, second-, third-, and fourth-leading jet, respectively. Differential cross sections are measured as functions of the jet transverse momentum, jet pseudorapidity, and several other observables that describe the angular correlations between the jets. The measured distributions show sensitivity to different aspects of the underlying event, parton shower modeling, and matrix element calculations. In particular, the interplay between angular correlations caused by parton shower and double-parton scattering contributions is shown to be important. The double-parton scattering contribution is extracted by means of a template fit to the data, using distributions for single-parton scattering obtained from Monte Carlo event generators and a double-parton scattering distribution constructed from inclusive single-jet events in data. The effective double-parton scattering cross section is calculated and discussed in view of previous measurements and of its dependence on the models used to describe the single-parton scattering background
Measurement of the top quark Yukawa coupling from tt ̄ kinematic distributions in the dilepton final state in proton-proton collisions at s=13 TeV
A measurement of the Higgs boson Yukawa coupling to the top quark is presented using proton-proton collision data at s=13 TeV, corresponding to an integrated luminosity of 137 fb-1, recorded with the CMS detector. The coupling strength with respect to the standard model value, Yt, is determined from kinematic distributions in tt ̄ final states containing ee, μμ, or eμ pairs. Variations of the Yukawa coupling strength lead to modified distributions for tt ̄ production. In particular, the distributions of the mass of the tt ̄ system and the rapidity difference of the top quark and antiquark are sensitive to the value of Yt. The measurement yields a best fit value of Yt=1.16-0.35+0.24, bounding Yt<1.54 at a 95% confidence level
Constraints on the Initial State of Pb-Pb Collisions via Measurements of Z-Boson Yields and Azimuthal Anisotropy at root s(NN)=5.02 TeV
The CMS experiment at the LHC has measured the differential cross sections of Z bosons decaying to pairs of leptons, as functions of transverse momentum and rapidity, in lead-lead collisions at a nucleon-nucleon center-of-mass energy of 5.02 TeV. The measured Z boson elliptic azimuthal anisotropy coefficient is compatible with zero, showing that Z bosons do not experience significant final-state interactions in the medium produced in the collision. Yields of Z bosons are compared to Glauber model predictions and are found to deviate from these expectations in peripheral collisions, indicating the presence of initial collision geometry and centrality selection effects. The precision of the measurement allows, for the first time, for a data-driven determination of the nucleon-nucleon integrated luminosity as a function of lead-lead centrality, thereby eliminating the need for its estimation based on a Glauber model.Peer reviewe
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