Publications by authors named "Kellett M"

Article Synopsis
  • The project aims to analyze the prevalence and health impact of rare diseases in Tasmania using existing health data from 2007 to 2020, targeting gaps in knowledge about these conditions.
  • Rare diseases were identified using an initial set of diagnostic codes, which was later expanded for better accuracy, revealing that 3.5% of Tasmanians have a rare disease, with significant hospital admissions and costs associated with their treatment.
  • In 2020, individuals with rare diseases represented 0.6% of the population, resulting in higher hospitalization costs and longer stays compared to general admissions, highlighting the substantial burden of these conditions on the health system.
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This article explores the deep impact of the COVID-19 pandemic on pediatric care volunteerism and specifically highlights the innovative responses and adaptations made by Project Sunshine, an international nonprofit organization headquartered in New York, NY. Prior to the pandemic, Project Sunshine's in-person volunteers played a critical role in providing comfort and support to hospitalized children and their families, bridging the gap between clinical treatment and patient satisfaction. However, COVID-19 brought unprecedented challenges to hospitals around the world, including widespread interruption of volunteer activities due to safety concerns and visitation restrictions.

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Arsenic is a toxicant commonly found in drinking water. Even though its main route of exposure is oral, little is known of the impact of in vivo arsenic exposure on small intestine. In vitro studies have shown that arsenic decreases differentiation of stem and progenitor cells in several different tissues.

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This study explores the natural history of vestibular, trigeminal and lower cranial nerve schwannomas (VS, TS, LCNS) in patients with Neurofibromatosis type 2 (NF2), to understand how pathogenic variants (PVs) of the NF2 gene affect tumour burden and growth rate, via a retrospective analysis of a UK NF2 centre database and imaging. VS, TS and LCNS location and size were measured in accordance with a standardised protocol. PVs were categorised in accordance with the UK NF2 Genetic Severity Score (GSS).

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Arsenic is a global health concern that causes toxicity through ingestion of contaminated water and food. In vitro studies suggest that arsenic reduces stem and progenitor cell differentiation. Thus, this study determined if arsenic disrupted intestinal stem cell (ISC) differentiation, thereby altering the number, location, and/or function of intestinal epithelial cells.

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Cutaneous squamous cell carcinoma (cSCC) ranks second in the frequency of all skin cancers. The balance between keratinocyte proliferation and differentiation is disrupted in the pathological development of cSCC. DLX3 is a homeobox transcription factor which plays pivotal roles in embryonic development and epidermal homeostasis.

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Palladium-103 decays through electron capture to excited levels of Rh, and especially to the 39.748-keV metastable state. A high activity palladium chloride solution was standardized by liquid scintillation, using the Triple-to-Double Coincidence Ratio method.

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The 2011 Decay Data Evaluation Project (DDEP) evaluation for Nd includes recommended absolute emission intensities for the two main gamma-rays at 91.105 (2) keV and 531.016 (22) keV of 0.

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This article describes the Nuclide++ module developed at LNE-LNHB to simulate the decay schemes related to single or multiple radionuclides, by randomly selecting decay pathways. Written in C++, with respect of the Geant4 coding style, this module can be used transparently in Geant4-based simulation applications as an alternative to the existing Radioactive Decay Module (RDM). Nuclide++ takes advantage of the DDEP recommended data, accurate β-emitting spectra calculation and detailed description of the atomic rearrangement.

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Article Synopsis
  • The study evaluates the occurrence of mosaicism in de novo neurofibromatosis 2 (NF2) among patients without known prior family history, testing over 1,000 individuals for NF2 variants using DNA from lymphocytes and tumors.
  • The findings show that 22% of patients exhibited proven or presumed mosaic NF2 variants, with the overall probable mosaicism rate estimated at nearly 60%, varying significantly with age.
  • The research concludes that NF2 likely has the highest mosaicism rate in nonlethal de novo dominant diseases, suggesting minimal risks to offspring that may be related to the variant frequencies found in the parents' blood.
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Clinical trials show an inverse relationship between the consumption of antioxidant-rich tree nuts and the development of chronic diseases. This study examined antioxidant efficacy of U.S.

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Few therapy options exist for patients with advanced papillary and anaplastic thyroid cancer. We and others have previously identified c-Src as a key mediator of thyroid cancer pro-tumorigenic processes and a promising therapeutic target for thyroid cancer. To increase the efficacy of targeting Src in the clinic, we sought to define mechanisms of resistance to the Src inhibitor, dasatinib, to identify key pathways to target in combination.

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Article Synopsis
  • The study identifies deficiencies in the current diagnostic criteria for neurofibromatosis 2 (NF2) by analyzing two large patient databases.
  • Evidence suggests that terms like "glioma" and "neurofibroma" should be eliminated from the criteria, as they do not effectively contribute to diagnoses.
  • The term "ependymoma” showed a 100% positive predictive value, while individuals over 60 with bilateral vestibular schwannomas had low confirmation rates, indicating a need for updated criteria and genetic testing recommendations.
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Objectives/hypothesis: Unilateral vestibular schwannoma (VS) occurs with a lifetime risk of around 1 in 1,000 and is due to inactivation of the NF2 gene, either somatically or from a constitutional mutation. It has been postulated that familial occurrence of unilateral VS occurs more frequently than by chance, but no causal mechanism has been confirmed.

Study Design: Retrospective database analysis.

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Objectives: Schwannomatosis is a dominantly inherited condition predisposing to schwannomas of mainly spinal and peripheral nerves with some diagnostic overlap with neurofibromatosis-2 (NF2), but the underlying epidemiology is poorly understood. We present the birth incidence and prevalence allowing for overlap with NF2.

Methods: Schwannomatosis and NF2 cases were ascertained from the Manchester region of England (population=4.

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The management of spinal cord ependymomas in Neurofibromatosis Type 2 (NF2) has traditionally been conservative, in contrast to the management of sporadic cases; the assumption being that, in the context of NF2, they did not cause morbidity. With modern management and improved outcome of other NF2 tumours, this assumption, and therefore the lack of role for surgery, has been questioned. To compare the outcome of conservative treatment of spinal ependymomas in NF2 with surgical intervention in selected patients.

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In vitro assays are widely used to analyze the antioxidant potential of compounds, but they cannot accurately predict antioxidant behavior in living systems. Cell-based assays, like the cellular antioxidant activity (CAA) assay, are gaining importance as they provide a biological perspective. When the CAA assay was employed to study phenolic antioxidants using hepatocarcinoma (HepG2) cells, quercetin showed antioxidant activity in HepG2 cells; 25 and 250μM quercetin reduced fluorescence by 17.

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A new experiment was designed to measure the photon emission intensities in the decay of Rh. The rhodium samples were activated in the ISIS experimental nuclear reactor at CEA Saclay. The procedure includes an absolute activity measurement by liquid scintillation counting using the Triple-to-Double Coincidence Ratio method, followed by X-ray spectrometry using a high-purity germanium detector to determine the photon emission intensities.

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Article Synopsis
  • The study examined the occurrence of malignant peripheral nerve sheath tumors (MPNST) in patients with neurofibromatosis type 2 (NF2) using a database of 1253 NF2 patients.
  • Despite analyzing over 2000 cases of vestibular schwannomas, no spontaneous MPNST cases were found in unirradiated patients, although two patients developed MPNST after radiation treatment.
  • The conclusion indicates that NF2 patients should not be considered at heightened risk for malignant transformation of vestibular schwannomas unless they have received stereotactic radiosurgery, highlighting the need for larger studies to explore this potential link more thoroughly.
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Background: The Manchester criteria for neurofibromatosis type 2 (NF2) include a range of tumors, and gliomas were incorporated in the original description. The gliomas are now widely accepted to be predominantly spinal cord ependymomas.

Objective: To determine whether these gliomas include any cases of malignant glioma (WHO grade III and IV) through a database review.

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Epidermal homeostasis relies on a well-defined transcriptional control of keratinocyte proliferation and differentiation, which is critical to prevent skin diseases such as atopic dermatitis, psoriasis or cancer. We have recently shown that the homeobox transcription factor DLX3 and the tumor suppressor p53 co-regulate cell cycle-related signaling and that this mechanism is functionally involved in cutaneous squamous cell carcinoma development. Here we show that DLX3 expression and its downstream signaling depend on protein kinase C α (PKCα) activity in skin.

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The effective and predictable management of gingival overgrowth requires correct diagnosis and consideration of aetiological factors, as discussed in Part 1 (BDJ 2017; 222: 85-91). Initial management should involve cause-related therapy, which may resolve or reduce the lesion. If functional, aesthetic and maintenance complications persist following this phase; further treatment may be required in the form of surgery.

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Most commonly, gingival overgrowth is a plaque-induced inflammatory process, which can be modified by systemic disease or medications. However, rare genetic conditions can result in gingival overgrowth with non-plaque-induced aetiology. It is also important to appreciate the potential differential diagnoses of other presentations of enlarged gingival tissues; some may be secondary to localised trauma or non-plaque-induced inflammation and, albeit rarely, others may be manifestations of more sinister diseases or lesions.

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