Aim: To evaluate aspects of cognition impacted by individuals with and without normal tension glaucoma.
Methods: Fifty normal tension glaucoma (NTG) and 50 control patients ≥50y of age were recruited from the UCSF Department of Ophthalmology. Demographic data and glaucoma parameters were extracted from electronic medical records for both groups.
Unlabelled: To identify functionally related genes associated with diabetic retinopathy (DR) risk using gene set enrichment analyses applied to genome-wide association study meta-analyses.
Methods: We analyzed DR GWAS meta-analyses performed on 3246 Europeans and 2611 African Americans with type 2 diabetes. Gene sets relevant to 5 key DR pathophysiology processes were investigated: tissue injury, vascular events, metabolic events and glial dysregulation, neuronal dysfunction, and inflammation.
Evaluating women with symptoms suggestive of coronary artery disease (CAD) remains challenging. A blood-based precision medicine test yielding an age/sex/gene expression score (ASGES) has shown clinical validity in the diagnosis of obstructive CAD. We assessed the effect of the ASGES on the management of women with suspected obstructive CAD in a community-based registry.
View Article and Find Full Text PDFTo identify genetic variants associated with diabetic retinopathy (DR), we performed a large multiethnic genome-wide association study. Discovery included eight European cohorts ( = 3,246) and seven African American cohorts ( = 2,611). We meta-analyzed across cohorts using inverse-variance weighting, with and without liability threshold modeling of glycemic control and duration of diabetes.
View Article and Find Full Text PDFPurpose: Diabetic retinopathy is the most common eye complication in patients with diabetes. The purpose of this study is to identify genetic factors contributing to severe diabetic retinopathy.
Methods: A genome-wide association approach was applied.
Background: Diagnosing obstructive coronary artery disease (CAD) is challenging in elderly adults, and current diagnostic approaches for CAD expose these individuals to risks from contrast dye and invasive procedures.
Design: A Registry to Evaluate Patterns of Care Associated with the Use of Corus CAD in Real World Clinical Care Settings (PRESET; NCT01677156), pragmatic clinical trial.
Setting: Community, 21 primary care practices.
Results from observational studies examining dyslipidemia as a risk factor for diabetic retinopathy (DR) have been inconsistent. We evaluated the causal relationship between plasma lipids and DR using a Mendelian randomization approach. We pooled genome-wide association studies summary statistics from 18 studies for two DR phenotypes: any DR ( = 2,969 case and 4,096 control subjects) and severe DR ( = 1,277 case and 3,980 control subjects).
View Article and Find Full Text PDFTo evaluate the shared genetic etiology of type 2 diabetes (T2D) and coronary heart disease (CHD), we conducted a genome-wide, multi-ancestry study of genetic variation for both diseases in up to 265,678 subjects for T2D and 260,365 subjects for CHD. We identify 16 previously unreported loci for T2D and 1 locus for CHD, including a new T2D association at a missense variant in HLA-DRB5 (odds ratio (OR) = 1.29).
View Article and Find Full Text PDFWe have established two mouse models of central nervous system (CNS) demyelination that differ from most other available models of multiple sclerosis (MS) in that they represent a mixture of viral and immune triggers. In the first model, ocular infection of different strains of mice with a recombinant HSV-1 that expresses murine IL-2 constitutively (HSV-IL-2) causes CNS demyelination. In the second model, depletion of macrophages causes CNS demyelination in mice that are ocularly infected with wild-type (WT) HSV-1.
View Article and Find Full Text PDFFront Cardiovasc Med
June 2016
The power spectral density (PSD) of heart rate variability (HRV) contains a power-law relationship that can be obtained by plotting the logarithm of PSD against the logarithm of frequency. The PSD of HRV can be decomposed mathematically into a power-law function and a residual HRV (rHRV) spectrum. Almost all rHRV measures are significantly smaller than their corresponding HRV measures except the normalized high-frequency power (nrHFP).
View Article and Find Full Text PDFChronic obstructive pulmonary disease (COPD) is a chronic airway disease with increased airway resistance. This study investigated the common characteristics of electrocardiographic (ECG) and nostril airflow signals in COPD patients using cross-spectral analysis. Heart rate variability (HRV) measures and cross-spectral (cs) measures of ECG and nostril airflow were compared in COPD patients and normal subjects, and correlated with their clinical characteristics.
View Article and Find Full Text PDFCurr Opin Ophthalmol
March 2016
Purpose Of Review: Glaucoma is the leading cause of irreversible blindness worldwide. The main treatment modality for glaucoma is the reduction and control of the intraocular pressure (IOP). Glaucoma filtration surgery, including trabeculectomy and/or implantation of a glaucoma drainage device (GDD), is warranted if IOP remains medically uncontrolled.
View Article and Find Full Text PDFBackground: The aim of this study was to investigate the flow resistance and flow rate in patients with acute respiratory distress syndrome (ARDS) in the surgical intensive care unit and their relation with autonomic nervous modulation.
Methods: Postoperative patients of lung or esophageal cancer surgery without ARDS were included as the control group (n = 11). Patients who developed ARDS after lung or esophageal cancer surgery were included as the ARDS group (n = 21).
Purpose: To examine the relationship between proportion of African ancestry (PAA) and proliferative diabetic retinopathy (PDR) and to identify genetic loci associated with PDR using admixture mapping in African Americans with type 2 diabetes (T2D).
Methods: Between 1993 and 2013, 1440 participants enrolled in four different studies had fundus photographs graded using the Early Treatment Diabetic Retinopathy Study scale. Cases (n = 305) had PDR while controls (n = 1135) had nonproliferative diabetic retinopathy (DR) or no DR.
J Clin Endocrinol Metab
September 2015
Context And Objective: Insulin resistance and chronic inflammation are key elements in the pathogenesis of type 2 diabetes. We hypothesized that similar mechanisms could have a role in the development of diabetic retinopathy (DR), an important microvascular complication in Latinos with type 2 diabetes.
Design And Setting: A cross-sectional, family-based, observational cohort study.
Purpose: To perform a quantitative trait locus (QTL) analysis and evaluate whether a locus between SIX1 and SIX6 is associated with retinal nerve fiber layer (RNFL) thickness in individuals of European descent.
Design: Observational, multicenter, cross-sectional study.
Methods: A total of 231 participants were recruited from the Diagnostic Innovations in Glaucoma Study and the African Descent and Glaucoma Evaluation Study.
Purpose: We determined if quantitative measurements of biogeographic ancestry (BGA) correlate with variations in optic disc area, corneal thickness (CCT), and retinal nerve fiber layer (RNFL) thickness.
Methods: Data were obtained from 656 participants in the African Descent and Glaucoma Evaluation Study (ADAGES) cohort who consented to BGA testing. Data for CCT, optic disc area, and RNFL thickness were obtained from subjects in the ADAGES study who also had participated in the current substudy.
BMJ Open Diabetes Res Care
December 2014
Objective: Residual insulin secretion provides important protection against the development of diabetic retinopathy in type 1 diabetes. The data to support this in type 2 diabetes are unclear. We therefore tested in type 2 diabetes whether markers of residual beta-cell function are associated with the development of diabetic retinopathy, an important microvascular complication of diabetes.
View Article and Find Full Text PDFRecent genetic association studies have identified 55 genetic loci associated with obesity or body mass index (BMI). The vast majority, 51 loci, however, were identified in European-ancestry populations. We conducted a meta-analysis of associations between BMI and ∼2.
View Article and Find Full Text PDFImportance: In the past decade, significant progress in genomic medicine and technologic developments has revolutionized our approach to common complex disorders in many areas of medicine, including ophthalmology. A disorder that still needs major genetic progress is diabetic retinopathy (DR), one of the leading causes of blindness in adults.
Objective: To perform a literature review, present the current findings, and highlight some key challenges in DR genetics.