Publications by authors named "Barry B"

Introduction: Exposure of healthcare workers to hazardous drugs may result in adverse health effects underscoring the importance of validating working procedures and safety precautions to minimise the risk. The objective was to monitor environmental contamination caused by the hazardous drug workflow: from drug vials, compounding process, to patient administration.

Methods: Surface wipe samples were collected from potentially contaminated surfaces in the compounding department and in the administration department.

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Peste des petits ruminants virus (PPRV), which is the only member of the species and belongs to the genus within the family, causes the highly contagious viral sickness "Peste des petits ruminants (PPR)." PPR is of serious economic significance for small ruminant production, particularly in Africa. Control of this critical disease depends highly on successful vaccination against the PPRV.

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Remote sensing can provide continuous spatiotemporal information about vegetation to inform wildlife habitat estimates, but these methods are often limited in availability or lack adequate resolution to capture the three-dimensional vegetative details critical for understanding habitat. The Global Ecosystem Dynamics Investigation (GEDI) is a spaceborne light detection and ranging system (LiDAR) that has revolutionized the availability of high-quality three-dimensional vegetation measurements of the Earth's temperate and tropical forests. To date, wildlife-related applications of GEDI data or GEDI-fusion products have been limited to estimate species habitat use, distribution, and diversity.

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Pharmacogenomic (PGx) biomarkers integrated using machine learning can be embedded within the electronic health record (EHR) to provide clinicians with individualized predictions of drug treatment outcomes. Currently, however, drug alerts in the EHR are largely generic (not patient-specific) and contribute to increased clinician stress and burnout. Improving the usability of PGx alerts is an urgent need.

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Unsolved Mendelian cases often lack obvious pathogenic coding variants, suggesting potential non-coding etiologies. Here, we present a single cell multi-omic framework integrating embryonic mouse chromatin accessibility, histone modification, and gene expression assays to discover cranial motor neuron (cMN) cis-regulatory elements and subsequently nominate candidate non-coding variants in the congenital cranial dysinnervation disorders (CCDDs), a set of Mendelian disorders altering cMN development. We generate single cell epigenomic profiles for ~86,000 cMNs and related cell types, identifying ~250,000 accessible regulatory elements with cognate gene predictions for ~145,000 putative enhancers.

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Article Synopsis
  • The purpose of the study was to evaluate new human genes and variants related to ocular congenital cranial dysinnervation disorders (oCCDDs) using genetic sequencing methods.
  • Researchers prioritized 43 human genes and 57 zebrafish genes through CRISPR/Cas9 knockout assays in zebrafish, ultimately generating mutants for 17 of those genes.
  • The study identified three novel genes linked to cranial motor development and demonstrated that certain human gene variants may impair protein function, suggesting they could contribute to oCCDDs.
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  • Artificial intelligence (AI) is being increasingly integrated into cardiovascular care for various purposes like prevention and treatment, but faces ethical and trust issues from both patients and healthcare providers.
  • A comprehensive literature review was conducted to identify these ethical concerns and trust barriers, revealing that issues such as privacy, healthcare inequity, and accountability are significant obstacles to AI adoption.
  • Key findings show that major trust barriers stem from fears about data security, potential harm to patients, and the perceived lack of transparency and human touch in AI-driven healthcare.
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  • This study aimed to identify the genetic causes and associations between genotype and phenotype in patients with unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).
  • Researchers analyzed data from 467 individuals with oCCDDs using exome or genome sequencing, revealing pathogenic variants in 43 probands and variants of uncertain significance in 70 others.
  • The findings highlight the genetic diversity of oCCDDs and suggest that they may overlap with other genetic conditions, paving the way for further research on potential genetic links.
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  • - Organizations rely on AI algorithms to efficiently identify knowledgeable individuals in specific domains, particularly in the medical field, easing the challenge of manual expert profiling.
  • - This study conducts a scoping review of literature on AI's role in expert identification in medical domains, identifying six relevant studies from a total of 571 assessed.
  • - All included studies, which utilized various AI techniques, showed improved accuracy in expert retrieval compared to standard methods, highlighting the need for further advancements in this area.
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Background: Technology has revolutionized not only direct patient care but also diagnostic care processes. This study evaluates the transition from glass-slide microscopy to digital pathology (DP) at a multisite academic institution, using mixed methods to understand user perceptions of digitization and key productivity metrics of practice change.

Methods: Participants included dermatopathologists, pathology reporting specialists, and clinicians.

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Purpose: To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).

Methods: We coupled phenotyping with exome or genome sequencing of 467 pedigrees with genetically unsolved oCCDDs, integrating analyses of pedigrees, human and animal model phenotypes, and variants to identify rare candidate single nucleotide variants, insertion/deletions, and structural variants disrupting protein-coding regions. Prioritized variants were classified for pathogenicity and evaluated for genotype/phenotype correlations.

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Without complete data on under-5 mortality, tracking progress towards achieving Sustainable Development Goal 3.2 will be challenging. Such data are also needed to ensure proper planning and prioritisation of scarce resources in low-income and middle-income countries.

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  • FEM1B is a key protein related to ubiquitin ligase complexes that influences various biological functions, including mitochondrial activity as a redox sensor, but its role in human disease is not well understood.
  • Researchers identified individuals with a specific genetic variant in FEM1B and conducted clinical evaluations, along with experiments using model systems to analyze the variant's effects.
  • The findings reveal that a recurrent mutation in FEM1B (p.(Arg126Gln)) leads to severe neurodevelopmental disorders and related physical abnormalities, suggesting that this variant causes dysfunctional activation of FEM1B that results in developmental issues.
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Frontline primary care teams face important challenges in seeking to transform the quality of care delivered to patients and to reduce clerical burden for clinicians. Digital technologies using artificial intelligence hold substantial promise to aid in this transformation. Both pragmatic clinical trials and implementation science are key tools to successfully introduce, evaluate, and sustain innovations in real-world primary care practices.

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  • The management of upper aerodigestive tract cancers is intricate, prompting the creation of a reference framework to define optimal treatment principles, led by a multidisciplinary scientific committee.
  • A systematic literature review was conducted to develop evidence-based recommendations that account for various patient-specific factors and treatment quality criteria.
  • The comprehensive framework aims to standardize care, enhance decision-making in consultations, and ensure equitable treatment practices, with plans for future updates to maintain relevance.
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Importance: Strabismus is a common ocular disorder of childhood. There is a clear genetic component to strabismus, but it is not known if esotropia and exotropia share genetic risk factors.

Objective: To determine whether genetic duplications associated with esotropia are also associated with exotropia.

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  • Head and neck cancer significantly affects the quality of life (QoL) of older patients, with this study evaluating the impact of geriatric-assessment (GA)-based interventions on QoL over two years.
  • The study involved 475 patients aged 65 and older, comparing those who received a GA-driven intervention to those receiving standard care, using specific QoL questionnaires for measurement.
  • Results showed improvements in QoL scores overall, but no major differences between the intervention and control groups; most patients in the intervention group did not complete the full treatment, highlighting the need for better healthcare models tailored to patients' needs.
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Background: Mycophenolate mofetil is an immunosuppressant commonly used to treat systemic lupus erythematosus (SLE) and lupus nephritis. It is a known teratogen associated with significant toxicities, including an increased risk of infections and malignancies. Mycophenolate mofetil withdrawal is desirable once disease quiescence is reached, but the timing of when to do so and whether it provides a benefit has not been well-studied.

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A FHIR based platform for case-based instruction of health professions students has been developed and field tested. The system provides a non-technical case authoring tool; supports individual and team learning using digital virtual patients; and allows integration of SMART Apps into cases via its simulated EMR. Successful trials at the University of Queensland have led to adoption at the University of Melbourne.

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Unsolved Mendelian cases often lack obvious pathogenic coding variants, suggesting potential non-coding etiologies. Here, we present a single cell multi-omic framework integrating embryonic mouse chromatin accessibility, histone modification, and gene expression assays to discover cranial motor neuron (cMN) cis-regulatory elements and subsequently nominate candidate non-coding variants in the congenital cranial dysinnervation disorders (CCDDs), a set of Mendelian disorders altering cMN development. We generated single cell epigenomic profiles for ~86,000 cMNs and related cell types, identifying ~250,000 accessible regulatory elements with cognate gene predictions for ~145,000 putative enhancers.

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Objective: To determine the indications and modalities for resection in the management of primary sublingual and minor salivary gland cancer, and the specific features of each primary location.

Material And Methods: The French Network of Rare Head and Neck Tumors (REFCOR) formed a steering group who drafted a narrative review of the literature published on Medline and proposed recommendations. The level of adherence to the recommendations was then assessed by a rating group, according to the formal consensus method.

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Objective: To determine the role of surgery of the primary tumor site in the management of primary major salivary gland cancer.

Material And Methods: The French Network of Rare Head and Neck Tumors (REFCOR) formed a steering group, which drafted a non-systematic narrative review of the literature published on Medline, and proposed recommendations. The level of adherence to the recommendations was then assessed by a rating group, according to the formal consensus method.

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Objective: To determine the indications for neck dissection in the management of parotid, submandibular or minor salivary gland cancers depending on the clinical situation: i.e., clinical lymph node involvement (cN+) or not (cN0); low or high risk of occult nodal metastasis; diagnosis of malignancy before, during or after surgery.

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