Publications by authors named "Drolet B"

Background: Many vascular anomalies harbor postzygotic somatic variants in GNAQ and GNA11; however, the phenotype of specific G-protein variants has not been well described. We report the clinical characteristics of 17 patients with a GNA11 R183C variant.

Methods: This case series is derived from a multinational cohort of vascular anomaly patients whose pathogenic mutations were identified using high-depth next generation sequencing.

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Identifying the drivers of population declines in migratory species requires an understanding of how individuals are distributed between periods of the annual cycle. We built post- (fall) and pre-breeding (spring) migratory networks for the blackpoll warbler (Setophaga striata), a Neotropical-Nearctic songbird, using tracking data from 47 light-level geolocators deployed at 11 sites across its breeding range. During pre-breeding migration, two stopover nodes (regions) on the U.

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  • The study assessed the prevalence and characteristics of advanced practice providers (APPs) like nurse practitioners and physician assistants who treat hand, wrist, and upper extremity conditions in the U.S. from 2013 to 2021.
  • It analyzed Medicare data to track diagnostic and therapeutic services these providers offered in comparison to traditional surgeons.
  • The findings revealed a significant increase (170.9%) in APPs providing upper-extremity care over the years, indicating a rising reliance on these practitioners amid expected surgeon shortages.
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  • Bluetongue (BT) is a viral disease spread by midges, affecting deer and livestock, leading to major economic losses due to decreased animal production and trade restrictions.
  • Researchers face challenges in studying this disease's transmission via live vectors, so they often use virus injections from baby hamster kidney (BHK) cells to induce infections in experimental models.
  • A recent study found that using midge cell-derived BTV-17 resulted in more severe disease symptoms and higher mortality in mice compared to BHK cell-derived viruses, suggesting this method better mimics natural infections without the complications of working with live midges.
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Vesicular stomatitis (VS) is a viral disease that affects horses, cattle, and swine that is transmitted by direct contact and hematophagous insects. In 2023, a multi-state outbreak of vesicular stomatitis New Jersey virus (VSNJV) occurred in California, Nevada, and Texas, infecting horses, cattle, and rhinoceros. To identify possible insect vectors, we conducted insect surveillance at various locations in San Diego County, CA, including at a wildlife park.

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This restrospective cohort study of Medicare payment data found increases in the number of advanced practice providers who bill for plastic and reconstructive surgery care. The growth in advanced practice providers is expected to continue in plastic surgery, and further investigation is needed to effectively integrate these providers into academic centers.

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This study evaluated the prevalence characteristics of advanced practice providers, including nurse practitioners and physician assistants, who provide care related to burns in the United States from 2013 to 2022 using national claims data. Our analysis was a retrospective, large cohort study evaluating debridement, wound care, and office-based services provided by advanced practice providers from 2013 to 2022 using the Medicare Provider Utilization and Payment Data Public Use Files from the CMS. The reported provider type and billing codes were used to identify healthcare professionals providing burn care.

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Lymphedema presents diagnostic challenges due to complex symptomatology and multifaceted onset. This literature review synthesizes diagnostic measures ranging from clinical assessments to advanced imaging techniques and emerging technologies. It explores the challenges in early detection and delves into the disparities in access to advanced diagnostic tools, which exacerbate health outcome differences across populations.

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Background: Next-generation sequencing has greatly increased our understanding of vascular birthmarks. Many port-wine birthmarks are due to somatic mutations in GNAQ/GNA11 exon 183, but other genomic causes have been identified. Most congenital hemangiomas are due to somatic mutations in GNAQ/GNA11 at exon 209.

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  • * The research found that tissue samples from patients showed strong IFN-I (a type of immune response) activity and signs of inflammation, even when the virus was only minimally present in biopsies.
  • * Additionally, an experiment using hamsters demonstrated that while the virus was active in the lungs, local IFN-I responses occurred in other areas (like toes) without the body developing traditional immunity to the virus, suggesting a potential viral trigger for some pernio cases.
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  • Granuloma annulare (GA) is a skin condition marked by granulomatous inflammation and influenced by both innate and adaptive immune responses, but its exact triggers and molecular mechanisms are not well understood.* -
  • Macrophages are the primary immune cells responsible for the inflammation in GA, yet little is known about how they become activated and how the condition manifests at the molecular level.* -
  • By studying the spatial gene expression of GA in six patients, researchers discovered a combination of immune signals and distinct macrophage polarization patterns, suggesting that key molecules like IFN-γ, TNF, and IL-32 play significant roles in the inflammation process related to GA.*
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Objective: To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies.

Study Design: These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists.

Results: After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement.

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  • The PI3K enzymes are important in regulating cell growth and differentiation, and variants in these enzymes are linked to cancer and related disorders.
  • Genetic variants in PI3K can lead to either undergrowth or overgrowth conditions, with differing impacts on protein interactions that influence cell activity.
  • The study uses molecular dynamics simulations to analyze these variants, revealing that variants causing undergrowth destabilize important protein interactions, while those linked to overgrowth enhance them, providing insights that could inform future therapies.
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Reemerging and notifiable diseases of cattle and bison continue to pose potential risks to their health and lives and affecting production and the livelihoods of producers. It is essential to understand the clinical presentation of these diseases to watch for possible incursions and infections and to immediately report your suspicions to your State and Federal Animal Health Officials. Three of these reemerging and notifiable diseases of cattle and bison, malignant catarrhal fever, bluetongue virus, and New World screwworm, are presented in this article for increased awareness to consider as a differential if examinations present suggestive clinical signs.

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Motivation: Spatial transcriptomics (ST) experiments provide spatially localized measurements of genome-wide gene expression allowing for an unprecedented opportunity to investigate cellular heterogeneity and organization within a tissue. Statistical and computational frameworks exist that implement robust methods for pre-processing and analyzing data in ST experiments. However, the lack of an interactive suite of tools for visualizing ST data and results currently limits the full potential of ST experiments.

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Retrospective serological and case diagnostic data of endemic bluetongue virus (BTV) and epizootic hemorrhagic disease virus (EHDV) provide evidence of viral transmission among livestock and wildlife from 2016 in Kansas and Nebraska. Serological testing of mature cattle in nine distinct regional zones of Kansas revealed 76% to 100% had detectable antibodies to BTV and/or EHDV. Specimens tested in the Kansas Veterinary Diagnostic Laboratory (55 submissions) were 51% test positive for antibodies to BTV and/or EHDV.

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Background: Peripheral nerve repair is limited by Wallerian degeneration coupled with the slow and inconsistent rates of nerve regrowth. In more proximal injuries, delayed nerve regeneration can cause debilitating muscle atrophy. Topical application of polyethylene glycol (PEG) during neurorrhaphy facilitates the fusion of severed axonal membranes, immediately restoring action potentials across the coaptation site.

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  • There is no agreement among doctors about whether to continue hormone therapy before gender-affirming surgery, as it can have both risks and benefits.
  • A survey was sent to 150 surgeons worldwide to understand their practices regarding hormone replacement therapy (HRT) before surgery.
  • The results showed that most surgeons keep patients on HRT and use precautions against blood clots, but practices vary a lot among different types of surgeries.
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Background: Breast reconstruction procedures are among the most commonly performed plastic surgery operations. Although there are well-validated patient-reported outcomes measures (PROMs) for breast reconstruction, there are several patient-, provider-, and service-level barriers to their implementation in routine clinical settings. Therefore, we developed a short-form PROM to evaluate breast reconstruction outcomes.

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