Visual Field Progression in the Ocular Hypertension Treatment Study.

Purpose: To determine the rate of visual field (VF) loss before and after the diagnosis of primary open angle glaucoma (POAG) in the Ocular Hypertension Treatment Study (OHTS).

Design: Pre-specified analyses of data collected prospectively in a clinical trial with extended follow-up.

Setting And Participants: Participants who developed POAG during OHTS 1 and 2 (February 1994 to December 2008) constitute an inception cohort.

Quality of Life and Primary Open-Angle Glaucoma in the Ocular Hypertension Treatment Study.

Importance: If preperimetric glaucoma reduces patient-reported vision-related quality of life (VRQoL), clinicians might consider earlier and more aggressive treatment of some patients with ocular hypertension and early glaucoma.

Objective: To determine the impact of preperimetric glaucoma and early glaucomatous visual field (VF) loss on participants' VRQoL compared with participants who did not develop glaucoma in the Ocular Hypertension Treatment Study (OHTS).

Design, Setting, And Participants: This cross-sectional study used data from participants enrolled in the OHTS from 1994 to 1996 who completed 20-year examination follow-up and VRQoL surveys from January 7, 2016, to November 19, 2019.

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP) and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/likely pathogenic (P/LP) variants and 58 of 327 (17.

Striving Toward Better Eye Health Beyond Our Waiting Rooms: The LXXX Edward Jackson Memorial Lecture.

Purpose: Visual impairment (VI) negatively impacts the quality of lives of individuals and the optimal health of populations, creating both human and financial costs. Yet, VI has not risen to a level that is considered a priority in population health. This analysis assesses the evidence currently available for strengthening the value proposition for eye health, particularly the demographic characteristics and patient-centered outcomes found in clinical research.

Addressing Structural Racism Using a Whole-Scale Planning Process in a Single Academic Center.

Purpose: The murder of George Floyd in 2020 prompted a national demand for cultural transformation to confront the systemic racism prevalent in the country. Academic medical centers were not exempt from this urgent call. This article evaluates the efficacy of a strategic process in fostering cultural transformation within an academic medical system.

Operationalizing inclusion: moving from an elusive goal to strategic action.

To mitigate the structural and institutional biases that contribute to inequities in health, we need a diverse cadre of individuals to feel included and advance within our field in order to bring a multicultural set of perspectives to the studies we conduct, the science we generate, the health and academic systems we design, and the medical and scientific knowledge we impart. There has been increasing focus on diversity, inclusion, and equity in recent years; however, often these terms are presented without adequate precision and, therefore, the inability to effectively operationalize inclusion and achieve diversity within organizations. This narrative review details several key studies, with the primary objective of presenting a roadmap to guide defining, measuring, and operationalizing inclusion within work and learning environments.

Asserting Accountability to Address Diversity: Report Card as a System of Measurement.

Problem: To the best of our knowledge, there are no standard accountability measures for diversity efforts at the departmental level. Therefore, the purpose of this study is to evaluate a multiprong report card as a structure for evaluation, tracking, and reporting as well as to examine any relationships between expenditures and outcomes.

Approach: We instituted an intervention that offered leadership a report card of metrics related to diversity efforts.

SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.

Copy number variants (CNVs) represent major etiologic factors in rare genetic diseases. Current clinical CNV interpretation workflows require extensive back-and-forth with multiple tools and databases. This increases complexity and time burden, potentially resulting in missed genetic diagnoses.

A systematic review examining the pulmonary effects of electronic vapor delivery systems.

Study Objective: Despite the popularity of vaping and electronic vapor delivery systems (EVDS), the healthcare community remains largely unfamiliar with their potential to induce harm. The purpose of this systematic review is to identify how EVDS use affects the pulmonary system in order to support future anesthetic guidelines for patients who vape.

Design: Systematic Review.

Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder.

Oligogenic inheritance of autism spectrum disorder (ASD) has been supported by several studies. However, little is known about how the risk variants interact and converge on causative neurobiological pathways. We identified in an ASD proband deleterious compound heterozygous missense variants in the Reelin (RELN) gene, and a de novo splicing variant in the Cav3.

Gender Diversity on Corporate Boards Associated with Ophthalmology.

Purpose: Enhancing diversity on boards has been linked to greater profitability and innovation. Unfortunately, there remains an underrepresentation of women in executive management and leadership positions in the ophthalmic corporate world. The purpose of these analyses was to examine the gender composition of directors for boards associated with the discipline of ophthalmology.

Employee Health and Wellness Outcomes Associated With Perceived Discrimination in Academic Medicine: A Qualitative Analysis.

Importance: Organizational culture and workplace interactions may enhance or adversely impact the wellness of all members of learning and work environments, yet a nuanced understanding of how such experiences within health care organizations impact the health and wellness of their membership is lacking.

Objective: To identify and characterize the reported health and wellness outcomes associated with perceived discrimination among academic medicine faculty, staff, and students.

Design, Setting, And Participants: This qualitative study analyzed anonymously submitted written narratives from 2016 that described experiences related to inclusion in the workplace or lack thereof.

Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay.

Copy number variants (CNVs) are recognized as a crucial genetic cause of neurodevelopmental disorders (NDDs). Chromosomal microarray analysis (CMA), the first-tier diagnostic test for individuals with NDDs, has been utilized to detect CNVs in clinical practice, but most reports are still from populations of European ancestry. To contribute more worldwide clinical genomics data, we investigated the genetic etiology of 410 Han Chinese patients with NDDs (151 with autism and 259 with unexplained intellectual disability (ID) and developmental delay (DD)) using CMA (Affymetrix) after G-banding karyotyping.

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.

In more than one-third of primary immunodeficiency (PID) patients, extensive genetic analysis including whole-exome sequencing (WES) fails to identify the genetic defect. Whole-genome sequencing (WGS) is able to detect variants missed by other genomics platforms, enabling the molecular diagnosis of otherwise unresolved cases. Here, we report two siblings, offspring of consanguineous parents, who experienced similar severe events encompassing early onset of colitis, lymphoproliferation, and hypogammaglobulinemia, typical of lipopolysaccharide-responsive and beige-like anchor (LRBA) or cytotoxic T lymphocyte antigen 4 (CTLA4) deficiencies.

Understanding Contributors to Racial/Ethnic Disparities in Emergency Department Throughput Times: a Sequential Mixed Methods Analysis.

Background: Ensuring equitable care remains a critical issue for healthcare systems. Nationwide evidence highlights the persistence of healthcare disparities and the need for research-informed approaches for reducing them at the local level.

Objective: To characterize key contributors in racial/ethnic disparities in emergency department (ED) throughput times.

Assessment of Cumulative Incidence and Severity of Primary Open-Angle Glaucoma Among Participants in the Ocular Hypertension Treatment Study After 20 Years of Follow-up.

Importance: Ocular hypertension is an important risk factor for the development of primary open-angle glaucoma (POAG). Data from long-term follow-up can be used to inform the management of patients with ocular hypertension.

Objective: To determine the cumulative incidence and severity of POAG after 20 years of follow-up among participants in the Ocular Hypertension Treatment Study.