Publications by authors named "Stacey A"

Purpose: We describe a rare case of two simultaneous primary conjunctival melanomas in the same eye that were treated sequentially with both plaque brachytherapy and proton beam radiotherapy following wide surgical excision.

Observations: A 66-year-old male presented with two pigmented lesions that were concerning for conjunctival melanoma. One of the lesions was on the bulbar conjunctiva near the corneal limbus, and the other in the lower fornix.

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Objective: To investigate the outcomes of primary enucleation and adjuvant systemic chemotherapy, when deemed appropriate, on a cohort of children with unilateral intraocular Rb (AJCC 8th edition, cT2 and cT3) from diverse economic groupings.

Methods: A prospective analysis including treatment-naïve Rb patients were presented to 11 centers from 10 countries from January 1 to December 31, 2019, and were followed-up thereafter. Only children with unilateral intraocular Rb that underwent primary enucleation were included in the present analysis.

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Resolving the molecular basis of a Mendelian condition remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome, methylome, epigenome and transcriptome sequencing approach, which enables accurate single-nucleotide, insertion-deletion and structural variant calling and diploid de novo genome assembly. This permits the simultaneous elucidation of haplotype-resolved CpG methylation, chromatin accessibility and full-length transcript information in a single long-read sequencing run.

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Van der Waals electrode integration is a promising strategy to create nearly perfect interfaces between metals and 2D materials, with advantages such as eliminating Fermi-level pinning and reducing contact resistance. However, the lack of a simple, generalizable pick-and-place transfer technology has greatly hampered the wide use of this technique. We demonstrate the pick-and-place transfer of prefabricated electrodes from reusable polished hydrogenated diamond substrates without the use of any sacrificial layers due to the inherent low-energy and dangling-bond-free nature of the hydrogenated diamond surface.

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BACKGROUNDCurrent clinical sequencing methods cannot effectively detect DNA methylation and allele-specific variation to provide parent-of-origin information from the proband alone. Parent-of-origin effects can lead to differential disease, and the inability to assign parent of origin in de novo cases limits prognostication in the majority of affected individuals with retinoblastoma, a hereditary cancer with suspected parent-of-origin effects.METHODSTo directly assign parent of origin in patients with retinoblastoma, we extracted genomic DNA from blood samples for sequencing using a programmable, targeted, single-molecule, long-read DNA genomic and epigenomic approach.

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Background: Tumor-selective oncolytic viral vectors are promising anticancer therapeutics; however, challenges with dosing and potency in advanced/metastatic cancers have limited efficacy and usage. NG-350A is a next-generation blood-stable adenoviral vector engineered to express an agonist anti-cluster of differentiation (CD)40 antibody without affecting tumor-selectivity and oncolytic potency.

Methods: Intravenous and intratumoral (IT) administration of NG-350A was assessed in a phase Ia/Ib study in patients with metastatic/advanced epithelial tumors (NCT03852511).

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Background: Retinoblastoma is the most common intraocular malignancy in childhood. Despite one-third of cases occurring in Africa, little is known of the outcomes on the continent. This study aims to explore survival and globe salvage outcomes and identify their risk factors across a large cohort of patients from the African continent.

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Purpose: Little is known regarding differences in childhood growth between somatic and heritable retinoblastoma (Rb) populations. We aimed to compare childhood growth parameters between somatic and heritable Rb cohorts at birth and at time of diagnosis with Rb.

Methods: A multinational, longitudinal cohort study was conducted with patients from 11 centers in 10 countries who presented with treatment naïve Rb from January to December 2019.

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Brain metastasis is a significant challenge for some breast cancer patients, marked by its aggressive nature, limited treatment options, and poor clinical outcomes. Immunotherapies have emerged as a promising avenue for brain metastasis treatment. B7-H3 (CD276) is an immune checkpoint molecule involved in T cell suppression, which is associated with poor survival in cancer patients.

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Nitrogen-vacancy (NV) centers in diamond are a promising platform for nanoscale NMR sensing. Despite significant progress toward using NV centers to detect and localize nuclear spins down to the single spin level, NV-based spectroscopy of individual, intact, arbitrary target molecules remains elusive. Such sensing requires that target molecules are immobilized within nanometers of NV centers with long spin coherence.

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Background Aims: The appearance of genetically variant populations in human pluripotent stem cell (hPSC) cultures represents a concern for research and clinical applications. Genetic variations may alter hPSC differentiation potential or cause phenotype variation in differentiated cells. Further, variants may have properties such as proliferative rate, or response to the culture environment, that differ from wild-type cells.

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Fluorescence-guided surgery has emerged as a vital tool for tumour resection procedures. As well as intraoperative tumour visualisation, 5-ALA-induced PpIX provides an avenue for quantitative tumour identification based on ratiometric fluorescence measurement. To this end, fluorescence imaging and fibre-based probes have enabled more precise demarcation between the cancerous and healthy tissues.

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This study demonstrates the control of neuronal survival and development using nitrogen-doped ultrananocrystalline diamond (N-UNCD). We highlight the role of N-UNCD in regulating neuronal activity via near-infrared illumination, demonstrating the generation of stable photocurrents that enhance neuronal survival and neurite outgrowth and foster a more active, synchronized neuronal network. Whole transcriptome RNA sequencing reveals that diamond substrates improve cellular-substrate interaction by upregulating extracellular matrix and gap junction-related genes.

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Purpose: Vision loss after facial trauma can occur from orbital compartment syndrome (OCS). Orbital compartment syndrome is commonly treated surgically with a lateral canthotomy and cantholysis (C&C). Our study investigates success rates of lateral C&C for the treatment of OCS amongst emergency medicine (EM) and ophthalmology providers.

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Background: While legislation protects persons with disabilities against discrimination, decisions taken in line with institutional policies may still have a negative impact on the lived experience of those individuals.

Objectives: The purpose of the study is to evaluate the efficacy of institutional policies, to describe the unintended psychosocial impact of policies and to identify factors that moderate the impact of the policies.

Method: The study adopted an autoethnographic approach involving recollecting life experiences, reading archival and policy documents, reflecting on experiences, articulating lived experiences, deep thought, reviewing and repetition.

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Purpose: Retinoblastoma (RB) is most often diagnosed with clinical features and not diagnosed with tumor biopsy. This study describes tumor-derived analyte concentrations from aqueous humor (AH) liquid biopsy and its use in clinical assays.

Design: Case series study.

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Color centers in diamond are promising platforms for quantum technologies. Most color centers in diamond discovered thus far emit in the visible or near-infrared wavelength range, which are incompatible with long-distance fiber communication and unfavorable for imaging in biological tissues. Here, we report the experimental observation of a new color center that emits in the telecom O-band, which we observe in silicon-doped bulk single crystal diamonds and microdiamonds.

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Tumor-selective viruses are a novel therapeutic approach for treating cancer. Tumor-Specific Immuno Gene Therapy (T-SIGn) vectors are tumor-selective adenoviral vectors designed to express immunomodulatory transgenes. Prolonged activated partial thromboplastin time (aPTT), associated with the presence of antiphospholipid antibodies (aPL), has been observed in patients with viral infections, and following administration of adenovirus-based medicines.

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Background And Objectives: Advanced artificial intelligence and machine learning have great potential to redefine how skin lesions are detected, mapped, tracked and documented. Here, we propose a 3D whole-body imaging system known as 3DSkin-mapper to enable automated detection, evaluation and mapping of skin lesions.

Methods: A modular camera rig arranged in a cylindrical configuration was designed to automatically capture images of the entire skin surface of a subject synchronously from multiple angles.

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Purpose: An ocular applicator that fits a commercial proton snout with an upstream range shifter to allow for treatments with sharp lateral penumbra is described.

Materials And Methods: The validation of the ocular applicator consisted of a comparison of range, depth doses (Bragg peaks and spread out Bragg peaks), point doses, and 2-D lateral profiles. Measurements were made for three field sizes, 1.

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Given increasing rates of visual impairment worldwide, we call on national health plans and global development agencies to urgently focus funding and resources toward vision and eye health, with an emphasis on data collection surrounding new and changing burden of eye disease.

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