Publications by authors named "Eric Van Buren"

Purpose: Terminal extensor tenotomy or Dolphin tenotomy, is a described treatment for the management of distal interphalangeal (DIP) joint hyperextension in chronic boutonniere deformity. The purpose of this study was to investigate the effects of incremental partial Dolphin tenotomy in correcting boutonniere deformity, with a focus on evaluating the improvement in DIP joint hyperextension deformity and documenting the development of iatrogenic mallet finger.

Methods: Thirty-eight fingers from 10 cadaveric hands were used.

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Motivation: Functional Annotation of genomic Variants Online Resources (FAVOR) offers multi-faceted, whole genome variant functional annotations, which is essential for Whole Genome and Exome Sequencing (WGS/WES) analysis and the functional prioritization of disease-associated variants. A versatile chatbot designed to facilitate informative interpretation and interactive, user-centric summary of the whole genome variant functional annotation data in the FAVOR database is needed.

Results: We have developed FAVOR-GPT, a generative natural language interface powered by integrating large language models (LLMs) and FAVOR.

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Article Synopsis
  • The study investigates how arsenic exposure affects the mouse placenta using single-cell RNA sequencing to uncover changes in gene expression and function across various cell types.
  • A key finding is the significant upregulation of the Prap1 gene, which encodes a protein that appears to provide protective effects against arsenic toxicity, particularly in female placental cells.
  • The research highlights the potential for understanding how environmental toxins impact fetal development and suggests new strategies for preventing and treating related health issues in mothers and their children.
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  • Inflammation biomarkers offer crucial insights into the inflammatory processes linked to various diseases, and their sequencing can help reveal the genetic makeup of these traits.
  • A study analyzed 21 inflammation biomarkers from around 38,465 individuals, discovering 22 significant associations across 6 inflammatory traits after considering existing findings.
  • The research combined single-variant and rare variant analyses, identifying additional significant associations and highlighting the complexity and diversity of genetic influences on inflammation traits across different ancestries.
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  • Large-scale whole-genome sequencing (WGS) studies have enhanced our understanding of how rare genetic variants affect complex human traits through better analysis techniques.* -
  • Current methods for analyzing multiple traits are limited in their ability to handle rare variants in large WGS datasets, prompting the development of MultiSTAAR.* -
  • MultiSTAAR enables more powerful analysis by considering relatedness, population structure, and the correlation between traits, leading to the discovery of new genetic associations in lipid traits that single-trait analyses missed.*
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Article Synopsis
  • Inflammation biomarkers play a crucial role in understanding diseases and can reveal insights into genetic traits through whole-genome sequencing studies.
  • A comprehensive analysis of 21 inflammation biomarkers in over 38,000 individuals found 22 significant single-variant associations across six different inflammatory traits, indicating the complexity and diversity of these biomarkers.
  • The study also included rare variant analyses, identifying 19 additional significant associations, which highlights the importance of using multiple analytical approaches to enhance the understanding of inflammation-related traits across different ancestries.
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Candidate cis-regulatory elements (cCREs) in microglia demonstrate the most substantial enrichment for Alzheimer's disease (AD) heritability compared to other brain cell types. However, whether and how these genome-wide association studies (GWAS) variants contribute to AD remain elusive. Here we prioritize 308 previously unreported AD risk variants at 181 cCREs by integrating genetic information with microglia-specific 3D epigenome annotation.

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Hyper-secretion and/or hyper-concentration of mucus is a defining feature of multiple obstructive lung diseases, including chronic obstructive pulmonary disease (COPD). Mucus itself is composed of a mixture of water, ions, salt and proteins, of which the gel-forming mucins, MUC5AC and MUC5B, are the most abundant. Recent studies have linked the concentrations of these proteins in sputum to COPD phenotypes, including chronic bronchitis (CB) and acute exacerbations (AE).

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  • - ERCC1/XPF is an important protein for repairing DNA damage caused by certain chemotherapy drugs, and researchers found that lung cancer cells lacking ERCC1 and p53 can resist platinum-based chemotherapy.
  • - Inhibiting ATR, a protein that helps maintain DNA replication, restored sensitivity to platinum in these resistant cells by affecting replication fork protection and cell cycle checkpoints.
  • - Combining ATR inhibitors with platinum treatment not only increased DNA damage but also showed promise for enhancing immunotherapy effectiveness, making it a potential strategy to treat ERCC1-deficient lung cancers.
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Purpose: The importance of consistent outpatient follow-up for management of diabetic eye disease has been well-established. The objective of this study was to identify patient factors associated with being lost to follow-up in postsurgical patients after undergoing pars plana vitrectomy for diabetic eye disease.

Methods: The charts of diabetic patients undergoing pars plana vitrectomy for nonclearing vitreous hemorrhage at an academic medical center by a single surgeon between 2012 and 2019 were reviewed.

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Pathological retinal neovascularization (NV) is a clinical manifestation of various proliferative retinopathies, and treatment of NV using anti-VEGF therapies is not selective, as it also impairs normal retinal vascular growth and function. Here, we show that genetic deletion or siRNA-mediated downregulation of IL-33 reduces pathological NV in a murine model of oxygen-induced retinopathy (OIR) with no effect on the normal retinal repair. Furthermore, our fluorescent activated cell sorting (FACS) data reveals that the increase in IL-33 expression is in endothelial cells (ECs) of the hypoxic retina and conditional genetic deletion of IL-33 in retinal ECs reduces pathological NV.

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We propose TWO-SIGMA-G, a competitive gene set test for scRNA-seq data. TWO-SIGMA-G uses a mixed-effects regression model based on our previously published TWO-SIGMA to test for differential expression at the gene-level. This regression-based model provides flexibility and rigor at the gene-level in (1) handling complex experimental designs, (2) accounting for the correlation between biological replicates and (3) accommodating the distribution of scRNA-seq data to improve statistical inference.

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Tissue-resident macrophages (ResMϕ) play important roles in the normal development and physiological functions as well as tissue repair and immune/inflammatory response to both internal and external insults. In cornea, ResMϕ are critical to the homeostasis and maintenance, wound healing, ocular immune privilege, and immune/inflammatory response to injury and microbial infection. However, the roles of microRNAs in corneal ResMϕ are utterly unknown.

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Article Synopsis
  • TWO-SIGMA is a new method for analyzing differential expression in single-cell RNA-seq data, combining two components: one for modeling drop-out probability and the other for mean expression levels using mixed-effects regression models.
  • This method is highly flexible, working without log-transformation, handling zero-inflation, accommodating correlations between cells, analyzing unbalanced designs, and controlling for additional covariates.
  • Simulation studies indicate that TWO-SIGMA performs better than other regression-based methods in controlling type-I error and enhancing power, while a real data analysis shows the importance of including random effects for accurate scientific conclusions.
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Unlabelled: PRéCIS:: This study addresses the paucity of literature examining glaucoma patients' distance from clinic on postoperative follow-up outcomes. Greater distance from clinic was associated with higher likelihood of loss to follow-up and missed appointments.

Purpose: To investigate the relationship of patient travel distance and interstate access to glaucoma surgery postoperative follow-up visit attendance.

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Purpose: To determine whether an association exists between dry eye disease (DED) and statin use and/or dyslipidemia.

Design: Retrospective, case-control study.

Methods: Setting: University of North Carolina (UNC)-affiliated healthcare facilities.

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Background: The incidence of various open shoulder procedures has changed over time. In addition, various fellowships provide overlapping training in open shoulder surgery. There is a lack of information regarding the relationship between surgeon training and open shoulder procedure type and incidence in early career orthopedic surgeons.

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Background: North Carolina's Infant-Toddler Program (NC ITP) provides Early Intervention (EI) services from birth to age three for children at risk for developmental delays. This study examined referral patterns by clinical and sociodemographic characteristics among infants with birth defects and infants born extremely preterm (gestational age < 27 weeks) or extremely low birthweight (<1,000 g).

Methods: A retrospective cohort of North Carolina resident births from 2012 to 2014 was matched to data from the North Carolina Birth Defects Monitoring Program and NC ITP records.

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:To examine the association between dry eye and diabetes mellitus among a large North Carolina patient population. :A retrospective cross-sectional study of patients seen within the University of North Carolina medical system between July 1, 2008, and September 1, 2017, was performed. De-identified medical records contained within the Carolina Data Warehouse of adult patients who have had an ocular evaluation were studied.

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Importance: Reports in the literature have conflicting findings about an association between dry eye disease (DED) and migraine headaches.

Objective: To determine the strength of the association between DED and migraine headaches.

Design, Setting, And Participants: This retrospective case-control study included 72 969 patients older than 18 years from University of North Carolina-affiliated health care facilities from May 1, 2008, through May 31, 2018.

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Objectives: We demonstrated recently that the T1 relaxation rate (R1) captured short-term Mn exposure in welders with chronic, relatively low exposure levels in a cross-sectional study. In the current study, we used a longitudinal design to examine whether R1 values reflect the short-term dynamics of Mn exposure.

Methods: Twenty-nine welders were evaluated at baseline and 12 months.

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Introduction: Welding fumes contain several metals including manganese (Mn), iron (Fe), and copper (Cu) that at high exposure may co-influence welding-related neurotoxicity. The relationship between brain accumulation of these metals and neuropathology, especially in welders with subclinical exposure levels, is unclear. This study examined the microstructural integrity of basal ganglia (BG) regions in asymptomatic welders using diffusion tensor imaging (DTI).

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We and others have shown that stresses, including photodynamic therapy (PDT), can disrupt the de novo sphingolipid biosynthesis pathway, leading to changes in the levels of sphingolipids, and subsequently, modulation of cell death. The de novo sphingolipid biosynthesis pathway includes a ceramide synthase-dependent reaction, giving rise to dihydroceramide, which is then converted in a desaturase-dependent reaction to ceramide. In this study we tested the hypothesis that combining Foscan-mediated PDT with desaturase inhibitor fenretinide (HPR) enhances cancer cell killing.

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Although African-Americans (AAs) have a higher incidence of colorectal cancer (CRC) than White people, the underlying biochemical mechanisms for this increase are poorly understood. The current investigation was undertaken to examine whether differences in self-renewing cancer stem/stem-like cells (CSCs) in the colonic mucosa, whose stemness is regulated by certain microRNAs (miRs), could partly be responsible for the racial disparity in CRC. The study contains 53 AAs and 47 White people.

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