Publications by authors named "Shorto J"

This study provides accurate results for the electronic stopping cross sections of H, He, N, and Ne in silicon in low to intermediate energy ranges using various non-perturbative theoretical methods, including real-time time-dependent density functional theory, transport cross section, and induced-density approach. Recent experimental findings [Ntemou et al., Phys.

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This comprehensive study delves into the intricate interplay between protons and organic polymers, offering insights into proton therapy in cancer treatment. Focusing on the influence of the spatial electron density distribution on stopping power estimates, we employed real-time time-dependent density functional theory coupled with the Penn method. Surprisingly, the assumption of electron density homogeneity in polymers is fundamentally flawed, resulting in an overestimation of stopping power values at energies below 2 MeV.

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Considerable experimental effort has been aimed at uncovering a reliable way to perform a dosimetric assessment in mixed radiation fields. In fields composed by gammas and neutrons, TLD dosimeters are usually applied to execute such measurements, although there is no consensus on the most favorable strategy to employ them. In this context, TLD-100 measurements within two different core configurations of the IPEN/MB-01 research reactor and Monte Carlo simulations have been used to investigate the behavior of those detectors in multiple mixed radiation fields, deriving a methodology to evaluate the dose deposition in the dosimeter by different gamma and neutron energy spectra and intensities.

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Purpose: In this paper we present a further step in the implementation of a physical phantom designed to generate sets of "true" independent reference data as requested by TG-186, intending to address and mitigate the scarcity of experimental studies on brachytherapy (BT) validation in heterogeneous media. To achieve this, we incorporated well-known heterogeneous materials into the phantom in order to perform measurements of I dose distribution. The work aims to experimentally validate Monte Carlo (MC) calculations based on MBDCA and determine the conversion factors from LiF response to absorbed dose in different media, using cavity theory.

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Purpose: In this paper we present a phantom designed to provide conditions to generate set of "true" independent reference data as requested by TG-186, and mitigating the scarcity of experimental studies on brachytherapy validation. It was used to perform accurate experimental measurements of dose of I brachytherapy seeds using LiF dosimeters, with the objective of experimentally validating Monte Carlo (MC) calculations with model-based dose calculation algorithm (MBDCA). In addition, this work intends to evaluate a methodology to convert the experimental values from LiF into dose in the medium.

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TLDs dosimeters are frequently presented as a viable choice for dosimetric studies when dealing with mixed neutron-gamma radiation fields. However, this choice is not without some drawbacks, because not only TLD response is highly dependent on particle type but also on neutron energy spectrum. Therefore, a correct screening and calibration of the dosimeter are required, and a simple shift from gamma screening methodology for mixed field is not suitable.

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The RAS proto-oncogene Harvey rat sarcoma viral oncogene homolog (HRAS) encodes a small GTPase that transduces signals from cell surface receptors to intracellular effectors to control cellular behavior. Although somatic HRAS mutations have been described in many cancers, germline mutations cause Costello syndrome (CS), a congenital disorder associated with predisposition to malignancy. Based on the epidemiology of CS and the occurrence of HRAS mutations in spermatocytic seminoma, we proposed that activating HRAS mutations become enriched in sperm through a process akin to tumorigenesis, termed selfish spermatogonial selection.

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De novo heterozygous mutations in HRAS cause Costello syndrome (CS), a condition with high mortality and morbidity in infancy and early childhood due to cardiac, respiratory, and muscular complications. HRAS mutations predicting p.Gly12Val, p.

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Polymorphisms in DNA double-strand break repair gene XRCC2 may play an important role in colorectal cancer etiology, specifically in disease subtypes. Associations of XRCC2 variants and colorectal cancer were investigated by tumor site and tumor instability status in a four-center collaboration including three U.K.

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Background: Genome-wide association studies of colorectal cancer (CRC) have identified genetic variants that reproducibly associate with CRC. Associations of 12 single nucleotide polymorphisms at 8q24, 9p24, and 18q21 (SMAD7) and CRC were investigated in a three-center collaborative study including two U.K.

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Rare inherited mutations in the mutL homolog 1 (MLH1) DNA mismatch repair gene can confer an increased susceptibility to colorectal cancer (CRC) with high penetrance where disease frequently develops in the proximal colon. The core promoter of MLH1 contains a common single nucleotide polymorphism (SNP) (-93G>A, dbSNP ID:rs1800734) located in a region essential for maximum transcriptional activity. We used logistic regression analysis to examine the association between this variant and risk of CRC in patients in the United Kingdom.

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Known genetic defects currently account for only a small proportion of patients meeting criteria for 'probable' or 'possible' common variable immunodeficiency (CVID). A 59-year-old male with a 12-year history of CVID on intravenous immunoglobulin (IVIG) is presented who developed bronchiectasis, cytopenias and malabsorption that are recognized complications of CVID. Work-up for his malabsorption suggested the possibility of Shwachman-Diamond syndrome, confirmed by mutation testing.

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Background: Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series.

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