Publications by authors named "Michael Hartnett"

Characterization of chemicals in household products is important for understanding this potential source of chemical exposure. Increasingly, suspect screening and nontargeted analysis techniques are used to characterize as many chemical signatures as possible. Solids such as household products are most conveniently prepared using solvent extraction, revealing what chemicals are contained within the product matrix but providing no information about the potential of those chemicals to leave the matrix and cause actual exposure.

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The COVID-19 pandemic has significantly impacted various aspects of life, including environmental conditions. Surface water quality (WQ) is one area affected by lockdowns imposed to control the virus's spread. Numerous recent studies have revealed the considerable impact of COVID-19 lockdowns on surface WQ.

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This work demonstrates high-throughput screening of personal care products to provide an overview of potential exposure. Sixty-seven products from five categories (body/fragrance oil, cleaning product, hair care, hand/body wash, lotion, sunscreen) were rapidly extracted and then analyzed using suspect screening by two-dimensional gas chromatography (GCxGC) high-resolution mass spectrometry (GCxGC-HRT). Initial peak finding and integration were performed using commercial software, followed by batch processing using the machine learning program Highlight.

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Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States. This manuscript describes the formation of the Duchenne Newborn Screening Consortium, the development of the pilot protocols, data collection tools including parent surveys, and findings from the first year of a two-year pilot.

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With the rapid increase in publicly available sequencing data, healthcare professionals are tasked with understanding how genetic variation informs diagnosis and affects patient health outcomes. Understanding the impact of a genetic variant in disease could be used to predict susceptibility/protection and to help build a personalized medicine profile. In the United States, over 3.

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The goal of newborn screening is to improve health outcomes by identifying and treating affected newborns. This manuscript provides an overview of a data tool to facilitate the longitudinal collection of health information on newborns diagnosed with a condition through NBS. The Newborn Screening Translational Research Network (NBSTRN) developed the Longitudinal Pediatric Data Resource (LPDR) to capture, store, analyze, visualize, and share genomic and phenotypic data over the lifespan of NBS identified newborns to facilitate understanding of genetic disease and to assess the impact of early identification and treatment.

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Masks constructed of a variety of materials are in widespread use due to the COVID-19 pandemic, and people are exposed to chemicals inherent in the masks through inhalation. This work aims to survey commonly available mask materials to provide an overview of potential exposure. A total of 19 mask materials were analyzed using a nontargeted analysis two-dimensional gas chromatography (GCxGC)-mass spectrometric (MS) workflow.

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Article Synopsis
  • The Human Phenotype Ontology (HPO) was established in 2008 to standardize the description and analysis of phenotypic abnormalities in human diseases, and has become a global reference for phenotype data.
  • Recent updates to the HPO include expansions in various medical fields, with improvements such as the seizure subontology aligning with international epilepsy guidelines, demonstrating their clinical validity.
  • Ongoing efforts focus on harmonizing phenotypic definitions across the HPO and other ontologies, enhancing computational tools for cross-species disease research, and translating the HPO into indigenous languages for broader accessibility.
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Lysyl oxidase like-2 (LOXL2) is an amine oxidase with both intracellular and extracellular functions. Extracellularly, LOXL2 promotes collagen and elastin crosslinking, whereas intracellularly, LOXL2 has been reported to modify histone H3, stabilize SNAIL, and reduce cell polarity. Although LOXL2 promotes liver and lung fibrosis, little is known regarding its role in renal fibrosis.

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The increased discharge of Tc-99 from the Sellafield plant following the commissioning of the Enhance Actinide Removal Plant in 1994 was reflected in higher Tc-99 activity concentrations over much of the Irish Sea. The presence of this radionuclide in the marine environment is of concern not only because of its long half life but also high bio-concentration factor in commercially valuable species, such Norway lobster (Nephrops norvegicus) and common lobster (Homarus gammarus). Accurate predictions of the transport, and spatial and temporal distributions of Tc-99 in the Irish Sea have important environmental and commercial implications.

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Water circulation patterns and associated material transport within a highly dynamic system such as the Irish Sea are complex phenomena. Although Tc-99 monitoring programme undertaken by the Radiological Protection Institute of Ireland provides a good insight to the material distribution on the east coast of Ireland, transport patterns within the Irish Sea have not been fully explored. In this study a validated transport model was used to hindcast transport of Tc-99 discharged from the Sellafield plant to determine extents of Tc-99 migration within the Irish Sea and reassess transit times to east coast of Ireland.

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The scallop fisheries off the southeast coast of Ireland have historically been considered a valuable resource for coastal communities, and hence their management is important. The scallop fishing grounds consist of a number of scallop beds dispersed throughout the St George's Channel and the southern Irish Sea. The boundaries between stocks and the interconnection in populations of adult scallops, through larval transport, is generally unknown.

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Modelling heavy metals in estuarine environments is extremely complex for various reasons; one of the primary complicating factors is that metals exist in two phases, dissolved and particulate bound. Dynamic changes in water chemistry, and in particular salinity, affect the partitioning of metals between the two phases and hence make it difficult to determine the relative fractions of each phase. A relatively simple approach was developed to relate variations in partition coefficient for Ni to salinity fluctuations in the Mersey Estuary.

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