Publications by authors named "Scott Norton"

The manchineel tree (Hippomane mancinella) grows along the sand-vegetation boundary of Caribbean beaches. The tree also can be found in Florida and the US Virgin Islands. All parts of the tree are toxic.

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Nucleotide changes in gene regulatory elements are important determinants of neuronal development and diseases. Using massively parallel reporter assays in primary human cells from mid-gestation cortex and cerebral organoids, we interrogated the cis-regulatory activity of 102,767 open chromatin regions, including thousands of sequences with cell type-specific accessibility and variants associated with brain gene regulation. In primary cells, we identified 46,802 active enhancer sequences and 164 variants that alter enhancer activity.

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Regulation of gene expression through enhancers is one of the major processes shaping the structure and function of the human brain during development. High-throughput assays have predicted thousands of enhancers involved in neurodevelopment, and confirming their activity through orthogonal functional assays is crucial. Here, we utilized Massively Parallel Reporter Assays (MPRAs) in stem cells and forebrain organoids to evaluate the activity of ~ 7000 gene-linked enhancers previously identified in human fetal tissues and brain organoids.

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Phrenology is the pseudoscience in which practitioners claim that they can discern one's character and personality traits by studying the structure of the skull. Long before "head bumps" were viewed as determinants of character, skin lines were analyzed to provide similar information and to divine one's future. Palmistry, also called chiromancy, is the interpretation of the lines of the palms and is one of the oldest forms of divination.

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Regulation of gene expression through enhancers is one of the major processes shaping the structure and function of the human brain during development. High-throughput assays have predicted thousands of enhancers involved in neurodevelopment, and confirming their activity through orthogonal functional assays is crucial. Here, we utilized Massively Parallel Reporter Assays (MPRAs) in stem cells and forebrain organoids to evaluate the activity of ~7,000 gene-linked enhancers previously identified in human fetal tissues and brain organoids.

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Article Synopsis
  • Idiopathic autism spectrum disorder (ASD) shows significant variation in symptoms, and the biological processes leading to these symptoms are not well understood.
  • Researchers used cortical organoids and single-cell transcriptomics to compare brain development between boys with idiopathic ASD and their unaffected fathers, identifying disruptions in neuron balance during early cortical development.
  • Although specific genomic variants were not found to explain the transcriptomic changes, there is a notable connection between altered genes and known ASD risk genes, suggesting similarities between idiopathic and rare forms of ASD.
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Dengue is the world's fastest-growing vector borne disease and has significant epidemic potential in suitable climates. Recent disease models incorporating climate change scenarios predict geographic expansion across the globe, including parts of the United States and Europe. It will be increasingly important in the next decade for dermatologists to become familiar with dengue, as it commonly manifests with rashes, which can be used to aid diagnosis.

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The ubiquity of RNA-seq has led to many methods that use RNA-seq data to analyze variations in RNA splicing. However, available methods are not well suited for handling heterogeneous and large datasets. Such datasets scale to thousands of samples across dozens of experimental conditions, exhibit increased variability compared to biological replicates, and involve thousands of unannotated splice variants resulting in increased transcriptome complexity.

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Nucleotide changes in gene regulatory elements are important determinants of neuronal development and disease. Using massively parallel reporter assays in primary human cells from mid-gestation cortex and cerebral organoids, we interrogated the -regulatory activity of 102,767 sequences, including differentially accessible cell-type specific regions in the developing cortex and single-nucleotide variants associated with psychiatric disorders. In primary cells, we identified 46,802 active enhancer sequences and 164 disorder-associated variants that significantly alter enhancer activity.

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Article Synopsis
  • The 2022 mpox outbreak has gained global attention amidst the ongoing COVID-19 pandemic, presenting distinct challenges in diagnosis and treatment.
  • Unlike COVID-19, mpox primarily shows skin symptoms that can resemble other skin conditions, especially sexually transmitted infections, making it difficult to identify.
  • This Special Communication outlines the history of mpox skin symptoms from their first identification in 1970 to the current widespread outbreak across multiple countries.
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Introduction: Throughout history, armies of the world have codified grooming standards for their members. In the USA, the Department of Defense (DoD) provides overall guidance for grooming standards and each uniformed military service develops, promulgates, and enforces its own grooming standards. The specific details of each service's grooming standards are revised regularly to conform to contemporaneous notions of professionalism and operational necessity.

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We analyzed 131 human brains (44 neurotypical, 19 with Tourette syndrome, 9 with schizophrenia, and 59 with autism) for somatic mutations after whole genome sequencing to a depth of more than 200×. Typically, brains had 20 to 60 detectable single-nucleotide mutations, but ~6% of brains harbored hundreds of somatic mutations. Hypermutability was associated with age and damaging mutations in genes implicated in cancers and, in some brains, reflected in vivo clonal expansions.

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This article explores dermatologic consequences of substandard, spurious, falsely labeled, falsified, and counterfeit (SSFFC) pharmaceutical products. Many of these SSFFC products are neither safe nor effective, and are more likely to cause adverse events than the proper preparations. These products also affect the health of populations by generating drug-resistant pathogens and failing to control the spread of disease.

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  • The study investigates the incidence of acute rheumatic fever in northern and western Uganda, where it is often underdiagnosed despite high rates of rheumatic heart disease.
  • Researchers set up clinics and health messaging campaigns to encourage the referral of children aged 3-17 with symptoms indicating acute rheumatic fever.
  • The findings revealed a notable incidence rate, with 25 cases per 100,000 person-years in Lira and 13 cases in Mbarara, highlighting the need for better recognition and diagnosis of the condition in these regions.
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Over the past 10 years, the environmental and veterinary communities have sounded alarms over an insidious keratinophilous fungus, Pseudogymnoascus destructans, that has decimated populations of bats (yes, bats, chiropterans) throughout North America and, most recently, Northern China and Siberia. We as dermatologists may find this invasive keratinophilous fungus of particular interest, as its method of destruction is disruption of the homeostatic mechanism of the bat wing integument. Although it is unlikely that this pathogen will become an infectious threat to humans, its environmental impact will likely affect us all, especially as recent data have shown upregulation of naturally occurring coronaviruses in coinfected bats.

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Parents of children with atopic dermatitis often believe that dietary factors influence the course of a child's eczema. This is not a new phenomenon. In this paper, we examine two old documents that explore the relationships between diet and health.

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Although not a diagnostic criterion for basal cell nevus syndrome (BCNS, OMIM#109400), cutaneous cysts, particularly epidermoid cysts, are common in this condition. Cutaneous keratocysts, on the other hand, are extremely rare in general and have been identified in only 5 patients with BCNS. Here, we describe a BCNS patient with a cutaneous keratocyst that demonstrated D2-40 (podoplanin) immunoreactivity, which has been detected in odontogenic keratocysts but not cutaneous keratocysts.

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The concept of emerging diseases is well understood; however, the concept of emerging injuries is not. We describe the introduction of two species of lionfish, native to the Indian and Pacific Oceans, into the warm shallow coastal waters of the Western Atlantic Ocean and the Caribbean Sea. Lionfish thrive in the same coastal waters that attract recreational swimmers, snorkelers, and divers.

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Background: Sunscreens are topical preparations containing one or more compounds that filter, block, reflect, scatter, or absorb ultraviolet (UV) light. Part 2 of this review focuses on the environmental, ecological effects and human toxicities that have been attributed to UV filters.

Methods: Literature review using NIH databases (eg, PubMed and Medline), FDA and EPA databases, Google Scholar, the , and the ().

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Sunscreens are topical preparations containing any number of ultraviolet filters (UVFs). The first part of the review will focus on the recent Food and Drug Administration (FDA) regulations of 2019 and general use of these agents. While sunscreen products are becoming more regulated in the United States, we still lag behind other countries in our options for UVFs.

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