1,077 research outputs found
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BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature.
BackgroundHereditary colon cancer is characterized by the inheritance of an abnormal gene mutation which predisposes to malignancy. Recent advances in genomic medicine have identified mutations in "novel" genes as conferring an increased risk of colorectal cancer. Mutations in the BRIP1 gene (BRCA1 Interacting Protein C- terminal helicase 1) are known to increase the risk of ovarian and breast cancers, but this genes association with colon cancer has not been previously reported.Case presentationWe describe two patients with colon cancer whose tumor tissue were found to harbor BRIP1 mutations on analysis by next-generation sequencing. These patients were confirmed by analysis of lymphocytes to carry the mutation in the germline as well.ConclusionsThese case reports highlight a previously unreported association of BRIP1 germline mutations with colon cancer predisposition
All-fluid amplifier development for liquid rocket secondary injection thrust vector control Final report
Staged vortex amplifier with integral gas generators for liquid rocket secondary injection thrust vector contro
Exon skipping associated with A→G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene
Aromatic/aliphatic diamine derivatives for advanced compositions and polymers
Novel compositions of matter comprise certain derivatives of 9,9-dialkyl fluorene diamine (AFDA). The resultant compositions, whether compositions of matter or monomers that are subsequently incorporated into a polymer, are unique and useful in a variety of applications. Useful applications of AFDA-based material include heavy ion radiation shielding components and components of optical and electronic devices
Involving patients and carers in developing the radiotherapy curriculum: enhancing compassion
Background:: This article describes a collaborative project that aimed to develop a patient-centred curriculum in radiotherapy. In the wake of the Francis report in 2013 and a call for compassion to be a central tenet of health programmes, the project was a timely opportunity to enhance the radiotherapy curriculum. Methods:: Collaboration between university staff and patients and carers using the service improvement model Plan-Do-Study-Act was the method employed for the curriculum project. Two key discussion forums helped shape the curriculum plan, with module and course evaluation continuing to inform developments. Results:: The key outcome of the project is that it has shaped the 'care' theme evident in the current undergraduate programme. Co-production methods resulted in the development of a range of shared classroom activities that focus on experiences, care values and communication strategies. The new curriculum has evaluated positively and the impact of learning is demonstrated both in the classroom and clinical setting. The project team have also influenced recruitment processes and patient and carer involvement in programme approval is embedded. Conclusion:: Working together, with patients and carers is an ideal method to enhance the curriculum and reflect the requirements in practice of current health and social care professions. Further developments in student assessment are planned
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Exploring content and psychometric validity of newly developed assessment tools for itch and skin pain in atopic dermatitis.
BackgroundAtopic dermatitis (AD) is a common skin disorder characterized by chronic inflammation, altered skin barrier function, and inflammatory cell skin infiltration that decreases health-related quality of life (HRQoL). The study objective was to understand the patient perspective of AD burden and determine suitable patient-reported outcome (PRO) measures.MethodsThis mixed methods study involved the collection of qualitative and quantitative information from adults (≥ 18 years old) and adolescents (12 - 17 years old) with clinician-confirmed AD regarding their experiences of AD symptoms and its impact on HRQoL. The first part of the study included three stages: in-person concept elicitation (CE) interviews, a 2-week daily electronic diary (eDiary) study, and in-person cognitive debriefing (CD) interviews. An Itch numeric rating scale (NRS) (v1.0) and a Skin Pain NRS (v1.0) evaluation during CD interviews required participants to think about their 'worst' itch and 'worst' skin pain in the past 24 h. Other PRO measures allowed for psychometric testing. The second part of the study involved telephone-depth interviews (TDIs) and qualitative feedback from participants who had not participated in the CD interviews. Qualitative data were thematically analyzed. Psychometric evaluation of NRS measures was performed using eDiary data.ResultsIn the CE interviews, itch and/or itching and skin pain were the most prevalent symptoms consistently discussed by participants. Both NRS measures demonstrated strong psychometric reliability and were applicable across ages with suitable concurrent validity. During the CD interviews, some participants focused their answers on their 'average' itch/itching in the past 24 h, rather than their 'worst' itch. Some participants answered the Skin Pain NRS thinking about general pain or other types of pain, rather than skin pain specifically. Consequently, modifications to both measures addressed these issues and re-tested as paper-and-pen versions in subsequent TDIs. Itch NRS (v2.0) modifications helped participants focus on their worst itching. Most participants preferred Skin Pain NRS v2.0b, which included skin pain descriptors.ConclusionsItching and skin pain are the most important and relevant AD symptoms. The Itch NRS (v2.0) and Skin Pain NRS (v2.0b) appear to be appropriate endpoints for the assessment of itching and skin pain severity for clinical trials with adults and adolescents with AD
Preparation of Metal Nanowire Decorated Carbon Allotropes
In the method of embodiments of the invention, the metal seeded carbon allotropes are reacted in solution forming zero valent metallic nanowires at the seeded sites. A polymeric passivating reagent, which selects for anisotropic growth is also used in the reaction to facilitate nanowire formation. The resulting structure resembles a porcupine, where carbon allotropes have metallic wires of nanometer dimensions that emanate from the seed sites on the carbon allotrope. These sites are populated by nanowires having approximately the same diameter as the starting nanoparticle diameter
Preparation and Properties of Nanocomposites from Pristine and Modified SWCNTs of Comparable Average Aspect Ratios
Low color, flexible, space-durable polyimide films with inherent and robust electrical conductivity to dissipate electrostatic charge (ESC) have been under investigation as part of a materials development activity for future NASA space missions. The use of single-walled carbon nanotubes (SWCNTs) is one means to achieving this goal. Even though the concentration of SWCNTs needed to achieve ESC dissipation is typically low, it is dependent upon purity, size, dispersion, and functionalization. In this study, SWCNTs prepared by the electric arc discharge method were used to synthesize nanocomposites using the LaRC(TradeMark) CP2 backbone as the matrix. Pristine and functionalized SWCNTs were mixed with an alkoxysilane terminated amide acid of LaRC(TradeMark) CP2 and the soluble imide form of the polymer and the resultant nanocomposites evaluated for mechanical, thermal, and electrical properties. Due to the preparative conditions for the pristine and functionalized SWCNTs, the average aspect ratio for both was comparable. This permitted the assessment of SWCNT functionalization with respect to various interactions (e.g. van der Waals, hydrogen bonding, covalent bond formation, etc.) with the matrix and the macroscopic effects upon nanocomposite properties. The results of this study are described herein
Thermal Conductivity of Polymer/Nano-filler Blends
To improve the thermal conductivity of an ethylene vinyl acetate copolymer, Elvax 260 was compounded with three carbon based nano-fillers. Multiwalled carbon nanotubes (MWCNT), vapor grown carbon nanofibers (CNF) and expanded graphite (EG) were investigated. In an attempt to improve compatibility between the Elvax and nanofillers, MWCNTs and EGs were modified through non covalent and covalent attachment of alkyl groups. Ribbons were extruded to form samples in which the nanofillers were aligned, and samples were also fabricated by compression molding in which the nano-fillers were randomly oriented. The thermal properties were evaluated by DSC and TGA, and mechanical properties of the aligned samples were determined by tensile testing. The degree of dispersion and alignment of the nanoparticles were investigated using high-resolution scanning electron microscopy. Thermal conductivity measurements were performed using a Nanoflash technique. The thermal conductivity of the samples was measured in both the direction of alignment as well as perpendicular to that direction. The results of this study will be presented
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