Publications by authors named "Simons A"

Article Synopsis
  • The audit aimed to assess and improve the completeness and accuracy of the National Joint Registry (NJR) dataset specifically for elbow arthroplasty surgeries.
  • In a two-phase approach, Phase 1 compared NJR data with NHS England Hospital Episode Statistics (HES), identifying thousands of unmatched and inaccurate records, particularly for radial head arthroplasties (RHAs).
  • Phase 2 involved collaboration among 142 NHS hospitals to correct and update records, resulting in an improved completeness of the NJR dataset from 63% to 93% and accuracy from 94% to 98%.
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The isolated river drainages of eastern North America serve as a natural laboratory to investigate the roles of allopatry and secondary contact in the evolutionary trajectories of recently diverged lineages. Drainage divides facilitate allopatric speciation, but due to their sensitivity to climatic and geomorphological changes, neighboring rivers frequently coalesce, creating recurrent opportunities of isolation and contact throughout the history of aquatic lineages. The freshwater mussel Quadrula quadrula is widely distributed across isolated rivers of eastern North America and possesses high phenotypic and molecular variation across its range.

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Objective: This retrospective study comprehensively assesses clinical characteristics, management, outcomes, and complications of deep neck space infections in adults at a UK ear, nose and throat tertiary centre.

Methods: Adult deep neck space infection patients from April 2019 to March 2021 were retrospectively reviewed using health records and picture archiving and communication system data. Demographics, presentation, microbiology, treatment, complications, and outcomes were analysed.

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While next generation sequencing has expanded the scientific understanding of Inborn Errors of Immunity (IEI), the clinical use and re-use of exome sequencing is still emerging. We revisited clinical exome data from 1300 IEI patients using an updated in silico IEI gene panel. Variants were classified and curated through expert review.

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Traditional approaches employing natural plant products to treat a wide array of ailments have been documented and described for thousands of years. However, there remains limited scientific study of the therapeutic potential or effectiveness of ethnobotanical applications. Increases in the incidence of cancer and emerging infectious diseases demonstrate a growing need for advances in the development of therapeutic options.

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Chimeric antigen receptor (CAR) T-cell therapy is a relatively new and innovative immunotherapy for haemato-oncological diseases. In the UK, CAR T-cell therapy can be used to treat some patients with relapsed or refractory acute lymphoblastic leukaemia or diffuse large B-cell lymphoma. However, CAR T-cell therapy can have side effects that have implications for patients' physical and psychosocial well-being and may induce adverse reactions that can cause life-threatening acute toxicities.

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Background: Rare coagulation factor deficiencies and disorders of fibrinolysis (defined as rare bleeding disorders [RBDs]) present with a heterogeneous bleeding phenotype, and bleeding severity is difficult to predict.

Objectives: Describe underlying rare genetic variants in the Dutch RBD population and investigate the relationship between genotype, laboratory phenotype, and clinical phenotype.

Methods: The Rare Bleeding Disorders in the Netherlands is a cross-sectional, nationwide study conducted between October 1, 2017, and November 30, 2019.

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In p-i-n perovskite solar cells optical excitation of defect states at the interface between the perovskite and fullerene electron transport layer (ETL) creates a photocurrent responsible for a distinct sub-bandgap external quantum efficiency (EQE). The precise nature of these signals and their impact on cell performance are largely unknown. Here, the effect of n-doping the fullerene on the EQE spectra is studied.

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Article Synopsis
  • The genomics era has led to the identification of the ERG gene as a new autosomal dominant predisposition factor for bone marrow failure (BMF) and hematological malignancies (HM), crucial for blood cell development and function.
  • Research found several rare ERG variants associated with thrombocytopenia and various forms of HM, showing onset typically before age 40.
  • Functional studies indicated that many ERG variants disrupt its role as a transcription factor, leading to ineffective blood cell production, with implications for clinical diagnosis and treatment strategies for affected patients and families.
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Disclosures of sibling sexual behavior (SSB) usually affect all family members but there remains, however, a paucity in studies on therapeutical family interventions and how they can initiate changes in families. This study was designed to explore relational impacts of SSB disclosures, goals for therapy and interventions that helped a family initiate the recovery process after a SSB disclosure. A single case study design was used to analyze a family's long-term therapy process.

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Background: In oral squamous cell carcinoma (OSCC), the tumor-node-metastasis (TNM) staging system is a significant factor that influences prognosis and treatment decisions for OSCC patients. Unfortunately, TNM staging does not consistently predict patient prognosis and patients with identical clinicopathological characteristics may have vastly different survival outcomes. Host immunity plays an important role in tumor progression but is not included in the TNM staging system.

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  • Land use and land cover (LULC) significantly influence mosquito species diversity and the risk of mosquito-borne diseases, as shown in a study comparing an urban farm and a forest preserve in Bloomington, IN.
  • The study collected 703 mosquitoes from 9 genera and 21 species over 234 trap-nights, finding that the urban farm hosted 15 species while the forest preserve had 19 species, with some species unique to each location.
  • Weather factors, like temperature and humidity, affected the mosquito populations differently in the two environments, emphasizing the role of LULC in mosquito ecology and confirming the presence of key species Aedes albopictus and Ae. japonicus in the area.
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This paper brings a new insight into understanding the influence of macrocapsules in packing systems, which can be useful in designing the inert structure of self-healing concrete. A variety of tubular macrocapsules, in terms of types and sizes, was used to assess the capsules' effect in the packing, together with various aggregate types and fractions. The voids ratios () of aggregate mixtures were evaluated experimentally and compared with the prediction via the particle packing model of Dewar.

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Migration independently evolved numerous times in animals, with a myriad of ecological and evolutionary implications. In fishes, perhaps the most extreme form of migration is diadromy, the migration between marine and freshwater environments. Key and long-standing questions are: how many times has diadromy evolved in fishes, how frequently do diadromous clades give rise to non-diadromous species, and does diadromy influence lineage diversification rates? Many diadromous fishes have large geographic ranges with constituent populations that use isolated freshwater habitats.

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Microbial inoculants can increase the yield of cultivated crops and are successful in independent trials; however, efficacy drops in large-scale applications due to insufficient consideration of microbial community dynamics. The structure of microbiomes, in addition to the impact of individual taxa, is an important factor to consider when designing growth-promoting inoculants. Here, we investigate the microbial network and community assembly patterns of Macrocystis pyrifera gametophyte germplasm cultures (collectively referred to as a "seedbank") used to cultivate an offshore farm in Santa Barbara, California, and identify network features associated with increased biomass of mature sporophytes.

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Mutations in proteasome β-subunits or their chaperone and regulatory proteins are associated with proteasome-associated autoinflammatory disorders (PRAAS). We studied six unrelated infants with three de novo heterozygous missense variants in PSMB10, encoding the proteasome β2i-subunit. Individuals presented with T-B-NK± severe combined immunodeficiency (SCID) and clinical features suggestive of Omenn syndrome, including diarrhea, alopecia, and desquamating erythematous rash.

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AbstractThe survival of an animal depends on its success as a forager, and understanding the adaptations that result in successful foraging strategies is an enduring endeavour of behavioral ecology. Random walks are one of the primary mathematical descriptions of foraging behavior. Power law distributions are often used to model random walks, as they can characterize a wide range of behaviors, including Lévy walks.

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Pirate Perches, Aphredoderus, are a widespread lowland freshwater fish native to the Eastern half of the United States. Aphredoderus was thought to contain a single species divided into an Eastern and Western subspecies on either side of the Appalachian Mountains with a widespread intergrade zone through much of the Eastern Gulf of Mexico and Southern Atlantic drainages. We use morphology and genetic data from specimens spanning the entire range of the genus to determine species limits within Aphredoderus.

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Wikipedia's influence in shaping public perceptions of science underscores the significance of scientists being recognized on the platform, as it can impact their careers. Although Wikipedia offers guidelines for determining when a scientist qualifies for their own article, it currently lacks guidance regarding whether a scientist should be acknowledged in articles related to the innovation processes to which they have contributed. To explore how Wikipedia addresses this issue of scientific "micro-notability," we introduce a digital method called Name Edit Analysis, enabling us to quantitatively and qualitatively trace mentions of scientists within Wikipedia's articles.

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Introduction: Sarcoidosis is a multi-system granulomatous disease most commonly involving the lungs. It may be incidentally diagnosed during imaging studies for other conditions or non-specific symptoms. The appropriate follow-up of incidentally diagnosed asymptomatic stage 1 disease has not been well defined.

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Article Synopsis
  • Rapid exome sequencing (rES) is becoming the go-to genetic test for critically ill patients, especially neonates and young infants, helping quickly identify genetic causes of rare diseases to guide treatment.
  • A study evaluated rES on 575 patients over four years, revealing a significant increase in referrals and a decrease in turnaround time for results, with an overall diagnostic yield of 30.4%.
  • Even when no genetic diagnosis was found, rES still influenced clinical decision-making, highlighting its value for patients of all ages and various rare conditions.
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Here, we describe an adult female with severe fasciitis and skin necrosis who carried a private, predicted deleterious missense mutation in OTULIN in heterozygosity. OTULIN is a cellular regulator of deubiquitination that has been shown to play a key role in intrinsic immunity against staphylococcal α-toxin. The patient was treated with broad-spectrum antibiotics, and multiple surgical explorations were conducted without clinical response.

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Purpose: A recent estimate indicates that Nigeria has about 70 clinical oncologists (COs) providing care for 124,815 patients with cancer and its 213 million total population. This staggering deficit is likely to worsen as about 90% of Nigerian physicians are eager to leave the country for perceived greener pastures in the United States, the United Kingdom, Canada, etc. Previous studies have examined general physician migration abroad; however, the CO workforce in Nigeria has been barely considered in the workforce literature.

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