Elucidating the cellular and genetic composition of ocular tissues is essential for uncovering the pathophysiology of ocular diseases. Since the introduction of single-cell RNA sequencing (scRNA-seq) in 2009, vision researchers have performed extensive single-cell analyses to better understand transcriptome complexity and heterogeneity of ocular structures. This technology has revolutionized our ability to identify rare cell populations and to make cross-species comparisons of gene expression in both steady state and disease conditions.
View Article and Find Full Text PDFPurpose: To describe the spatial distribution and morphologic characteristics of macrophage-like cells called hyalocytes in the posterior vitreous cortex of a patient with unilateral partial posterior vitreous detachment (PVD) using coronal plane optical coherence tomography (OCT).
Observations: A 54-year-old male with sickle cell disease (HbSC genotype) presented with a partial PVD in one eye. Rendered volumes of a slab extending from 600 μm to 3 μm anterior to the inner limiting membrane (ILM) revealed hyperreflective foci in the detached posterior vitreous cortex suspended anterior to the macula, likely representing hyalocytes.
Purpose: Pigmented paravenous chorioretinal atrophy (PPCRA) is a rare retinal disease with inflammatory or infectious associations affecting the retinal pigment epithelium (RPE) and choriocapillaris. While the clinical manifestations and imaging findings are well-documented in the literature, no reports exist describing potential biomarkers of intraocular inflammation or ischemia in this condition, such as the presence of posterior vitreous cortex hyalocytes.
Observations: We report a case of a 26-year-old female who presented with progressive peripheral vision loss in both eyes over one year.
Purpose: Recent studies of glaucoma, age-related macular degeneration, and diabetic retinopathy have demonstrated that flavoprotein fluorescence (FPF) can be utilized non-invasively as an indicator of mitochondrial oxidative stress in the retina. However, a comprehensive assessment of the validity and reliability of FPF in differentiating between healthy and diseased eyes across multiple disease states is lacking. Here, we evaluate the sensitivity and specificity of FPF in discriminating between healthy and diseased eyes in four leading causes of visual impairment worldwide, one of which has not been previously evaluated using FPF.
View Article and Find Full Text PDFCraniomaxillofac Trauma Reconstr
December 2022
Presurgical Nasoalveolar Molding (NAM) is an adjunctive treatment modality designed to reorient misaligned tissue structures and nasal cartilage in cleft lip and/or palate (CL/P) patients. Recent advances in NAM therapy focus on modifications to the intraoral molding plate or nasal stent intended to improve treatment outcomes, ease of use, compliance, and cost-effectiveness. Notably, 3D technological advancements have been employed to design NAM devices more efficiently and create objective, standardized means of measuring progressive morphological changes during therapy.
View Article and Find Full Text PDFIntroduction: Vitreous cortex hyalocytes (VCH) are resident macrophage cells that provide immunosurveillance, respond to tissue injury and inflammation, and help maintain the transparency of the media. In this case report we demonstrate the use of optical coherence tomography (OCT) to image VCH in a patient presenting with PAMM secondary to antiphospholipid syndrome.
Case Description: A 38-year-old female with no known medical history presented with complaints of visual disturbances in the right eye.
Background: Surgical scheduling, specifically the day of the week on which surgery is performed, has been associated with various postoperative outcomes in patients undergoing lower extremity joint arthroplasty.
Purpose: We sought to investigate surgical scheduling as a potential modifiable factor for patient quality metrics and related costs.
Methods: In a retrospective prognostic study, all total knee and total hip arthroplasty (TKA/THA) cases that took place in 2017 to 2018 at a multihospital academic health system were queried.
Purpose: The optimal age for minimally invasive repair of pectus excavatum (MIRPE) is unclear; this study investigates the differences in complication rates among different age groups undergoing repair.
Methods: PubMed and Embase databases were searched from inception to October 2020. To assess age as a risk factor for complications, odds ratios from relevant studies were analyzed using the Mantel-Haenszel method with a random-effects model for younger vs older patients.
This case report details the clinical course of a 7-year-old patient with an initial presentation of acute appendicitis, who developed symptoms highly concerning multisystem inflammatory syndrome in children (MIS-C) after appendectomy. Despite appropriate management, the patient went on to develop left main coronary artery dilatation. Given the spectrum of clinical presentations and absence of pathognomonic findings or diagnostic tests for MIS-C, it is essential to maintain a high index of suspicion for MIS-C when pediatric patients first present with nonspecific gastrointestinal symptoms and recent exposure to coronavirus disease 2019 (COVID-19).
View Article and Find Full Text PDFWe present a global atlas of 4,728 metagenomic samples from mass-transit systems in 60 cities over 3 years, representing the first systematic, worldwide catalog of the urban microbial ecosystem. This atlas provides an annotated, geospatial profile of microbial strains, functional characteristics, antimicrobial resistance (AMR) markers, and genetic elements, including 10,928 viruses, 1,302 bacteria, 2 archaea, and 838,532 CRISPR arrays not found in reference databases. We identified 4,246 known species of urban microorganisms and a consistent set of 31 species found in 97% of samples that were distinct from human commensal organisms.
View Article and Find Full Text PDFRecent advances in metagenomic technology and computational prediction may inadvertently weaken an individual's reasonable expectation of privacy. Through cross-kingdom genetic and metagenomic forensics, we can already predict at least a dozen human phenotypes with varying degrees of accuracy. There is also growing potential to detect a "molecular echo" of an individual's microbiome from cells deposited on public surfaces.
View Article and Find Full Text PDFSince the introduction of the Bundled Payments for Care Improvement initiative, progress has been made in piloting bundled payment models to improve care coordination and curtail health care expenditures. In light of improvements in patient outcomes and the concomitant reduction in health care spending for certain high-volume and high-cost procedures, such as total joint arthroplasty and breast reconstruction, the authors discuss theoretical considerations for bundling payments for the care of patients with orofacial clefts. The reasons for and against adopting such a payment model to consolidate cleft care, as well as the challenges to implementation, are discussed.
View Article and Find Full Text PDFIntroduction: Nasoalveolar molding (NAM) is a presurgical orthopedic treatment modality that attempts to reorient misaligned bony and soft tissue structures in patients with clefting of the lip and palate. The NAM devices are implemented prior to surgical intervention in order to minimize the gap across the cleft and thereby reduce tension across the eventual repair. Currently, NAM devices are fabricated in a laboratory and then refined chairside by the provider.
View Article and Find Full Text PDFFollowing publication of the original article [1], the authors would like to highlight the following two corrections.
View Article and Find Full Text PDFBackground: One of the main challenges in metagenomics is the identification of microorganisms in clinical and environmental samples. While an extensive and heterogeneous set of computational tools is available to classify microorganisms using whole-genome shotgun sequencing data, comprehensive comparisons of these methods are limited.
Results: In this study, we use the largest-to-date set of laboratory-generated and simulated controls across 846 species to evaluate the performance of 11 metagenomic classifiers.
Amplification of minute quantities of DNA is a fundamental challenge in low-biomass metagenomic and microbiome studies because of potential biases in coverage, guanine-cytosine (GC) content, and altered species abundances. Whole genome amplification (WGA), although widely used, is notorious for introducing artifact sequences, either by amplifying laboratory contaminants or by nonrandom amplification of a sample's DNA. In this study, we investigate the effect of REPLI-g multiple displacement amplification (MDA; Qiagen, Valencia, CA, USA) on sequencing data quality and species abundance detection in 8 paired metagenomic samples and 1 titrated, mixed control sample.
View Article and Find Full Text PDFNext-generation sequencing (NGS) technologies have ushered in the era of precision medicine, transforming the way we treat cancer patients and diagnose disease. Concomitantly, the advent of these technologies has created a surge of microbiome and metagenomic studies over the last decade, many of which are focused on investigating the host-gene-microbial interactions responsible for the development and spread of infectious diseases, as well as delineating their key role in maintaining health. As we continue to discover more information about the etiology of infectious diseases, the translational potential of metagenomic NGS methods for treatment and rapid diagnosis is becoming abundantly clear.
View Article and Find Full Text PDFThe Extreme Microbiome Project (XMP) is a project launched by the Association of Biomolecular Resource Facilities Metagenomics Research Group (ABRF MGRG) that focuses on whole genome shotgun sequencing of extreme and unique environments using a wide variety of biomolecular techniques. The goals are multifaceted, including development and refinement of new techniques for the following: 1) the detection and characterization of novel microbes, 2) the evaluation of nucleic acid techniques for extremophilic samples, and 3) the identification and implementation of the appropriate bioinformatics pipelines. Here, we highlight the different ongoing projects that we have been working on, as well as details on the various methods we use to characterize the microbiome and metagenome of these complex samples.
View Article and Find Full Text PDFIntroduction Or Background: Crowdfunding and crowdsourcing of medical research has emerged as a novel paradigm for many biomedical disciplines to rapidly collect, process and interpret data from high-throughput and high-dimensional experiments. The novelty and promise of these approaches have led to fundamental discoveries about RNA mechanisms, microbiome dynamics and even patient interpretation of test results. However, these methods require robust training protocols, uniform sampling methods and experimental rigor in order to be useful for subsequent research efforts.
View Article and Find Full Text PDFThe panoply of microorganisms and other species present in our environment influence human health and disease, especially in cities, but have not been profiled with metagenomics at a city-wide scale. We sequenced DNA from surfaces across the entire New York City (NYC) subway system, the Gowanus Canal, and public parks. Nearly half of the DNA (48%) does not match any known organism; identified organisms spanned 1,688 bacterial, viral, archaeal, and eukaryotic taxa, which were enriched for harmless genera associated with skin (e.
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