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505 results for “carriers”
Dataset related to article "Comparison of Long-Term Oncological Results in Young Women with Breast Cancer between BRCA-Mutation Carriers Versus Non-Carriers: How Tumor and Genetic Risk Factors Influence the Clinical Prognosis"
<p>This record contains raw data related to article "Comparison of Long-Term Oncological Results in Young Women with Breast Cancer between BRCA-Mutation Carriers Versus Non-Carriers: How Tumor and Genetic Risk Factors Influence the Clinical Prognosis"</p><p><strong>Abstract</strong></p><p><strong>Background: </strong>Breast cancer (BC) is very uncommon in young women (YW) and it is unclear whether a BRCA mutation has prognostic implications. Our aim was to evaluate the characteristics of YW with BC by comparing the long-term oncological results between BRCA-mutation carriers and non-carriers.</p><p><strong>Methods: </strong>We retrospectively reviewed all the consecutive YW (aged 18-40 years) diagnosed with BC. Endpoints were disease-free survival (DFS), distant disease-free survival (DDFS), and overall survival (OS).</p><p><strong>Results: </strong>63 YW with a BRCA mutation were compared with 339 YW without BRCA mutation. BRCA-mutation carriers were younger (60.3% versus 34.8% if age ≤ 35 years, <i>p</i> = 0.001) and presented with more aggressive tumors (66.7% versus 40.7% if G3, <i>p</i> = 0.001; 57.2% versus 12.4% if biological subtype triple-negative, <i>p</i> = 0.001; 73.0% versus 39.2% if Ki67 ≥ 25%, <i>p</i> = 0.001). Non-carriers presented significantly better DFS, DDFS, and OS compared with BRCA-mutation carriers. Neoadjuvant chemotherapy was found to be an independent protective factor for OS in BRCA-mutation carriers.</p><p><strong>Conclusions: </strong>BC is more likely to present at a younger age (≤ 35 years) and with more aggressive characteristics (G3, triple-negative, Ki67 ≥ 25%) in YW with BRCA mutation compared with their non-mutated counterparts. Young BRCA-mutation carriers showed a poorer prognosis in terms of recurrence and survival compared with non-carriers. The implementation of neoadjuvant chemotherapy may improve survival in YW with BC and BRCA mutation.</p>
Cognitive function in DMD carriers: personal case series and literature review
<p>Introduction: This database includes the raw data linked with the paper “Cognitive function in DMD carriers: personal case series and literature review” published on “Acta Myologica”. Aim: This study aimed to investigate the cognitive involvement in a cohort of DMD carriers.</p> <p>Methods: Our case series consisted of 22 carrier patients from two different centers (IRCCS Mondino, Pa- via and Policlinico Gemelli, Rome), for whom we retrospectively collected cognitive, clinical and genetic data.</p> <p>Results: We found that the average IQ of DMD carriers was lower (74; very low) than the average score on normal curve (100 as average standard score). Furthermore, about 50% of them fell in the “extremely low IQ” range, compared with 2-3% of general population. A higher incidence of intellectual disability was confirmed in symptomatic DMD carriers (mean IQ 66; extremely low) from the IRCCS Mondino, but not for the asymptomatic ones (mean IQ 99; average), when compared to the general population.</p>
Electrical Conductivity of Rocks and Dominant Charge Carriers: The Paradox of Thermally Activated Positive Holes
In this paper we have focused on fundamental processes that are important for understanding the electrical properties of materials, both single crystal minerals and igneous rocks, both laboratory-grown and from natural environments. The prevailing view in the geophysics community is that the electrical conductivity structure of the Earth’s continental crust over the 5-35 km depth range can best be understood by assuming the presence of intergranular fluids and/or intergranular carbon films. Based on studies of melt-grown MgO, magma-derived sanidine and anorthosite feldspar and upper mantle olivine single crystal we present evidence for the presence of electronic charge carriers, the importance of which has been largely ignored. These charge carriers derive from peroxy defects, which are introduced during cooling, under non-equilibrium conditions, through a redox conversion of pairs of solute OH– arising from the solid state dissolution of H2O. It can be shown that, during reheating, the peroxy defects become thermally activated in a 2-step process. Step 2 leads to the release of defect electrons in the oxygen anion sublattice. Known as positive holes and symbolized by h•, these electronic charge carriers are associated with energy states at the upper edge of the valence band. They are highly mobile. Chemically equivalent to O– in a matrix of O2– they are highly oxidizing. However, though metastable, the h• can exist in minerals, which crystallized in highly reduced environments. The h• appear to control the electrical conductivity of crustal rocks over much of the 5-35 km depth range. We make the extraordinary and seemingly paradoxial claim that MgO crystals, grown from the melt under the viciously reducing conditions of a carbon arc fusion furnace, contain peroxy defects in their crystal structure, hence oxygen in the valence state 1–. When the peroxy defects break up, they release positive hole charge carriers, formally defect electron in the oxygen anion sublattice, equivalent to O– in a matrix of O2–. These positive holes have two outstanding properties: they are highly mobile and highly oxidizing.
Data from: Polysaccharide/gelatin blend films as carriers of ascorbyl palmitate – A comparative study
<p>This dataset contains data and images for a publication related to polysaccharide/gelatin edible films incorporated with ascorbyl palmitate. This study assesses the functional properties of edible 75/25 blend films based on polysaccharides (GAR, OSA, WSSP) and GEL with increasing ascorbyl palmitate contents (1% and 2%). Microstructure, water affinity, optical and mechanical properties, as well as AP release profiles, and antioxidant activities of the films were investigated and compared. The database has been developed within the National Science Centre (Poland)-funded project number 2019/35/N/NZ9/01795.</p>
Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas
<p>Our work provides interesting information both for the finding of a high prevalence of germline armadillo repeat-containing 5 (ARMC5) pathogenic variants in patients with bilateral adrenal incidentalomas and mild autonomous cortisol secretion and, above all, for the novel detection of somatic mutations in the adrenal tissue of patients without germline ARMC5 pathogenic variants. Although the sample size of our cohort is quite small, due to the monocentric nature of the study, a thorough genetic analysis was performed associated with an extensive hormonal, clinical, and comorbidity assessment. We think that these findings can stimulate in the future further studies to elucidate the pathophysiological role of somatic ARMC5 variants in the adrenal tumor development in otherwise wild-type patients and the possible clinical implications.</p>
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
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DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.