154 research outputs found

    Italian family with two independent mutations:3358T/A in BRCA1 and 8756delA in BRCA2 genes.

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    Hereditary breast/ovarian cancer is a well-characterized clinical entity, largely attributed to the inheritance of BRCA1 or BRCA2 mutations. Among general population, the mutation's frequency of these genes is very low; therefore, the identification of two independent mutations in the same family is a rare event. This study reports the presence of two mutations, one in the BRCA1 and the second in the BRCA2 gene in an Italian Caucasian kindred. This family is composed of more than 250 individuals, spanning through five generations, among which endogamy was a common phenomenon. Considering the tumor spectrum, this family is characterized by a high incidence of different types of cancer. In our study, we considered only three out of seven family units for BRCA1 and BRCA2 analysis. In one of the family units, we found independent mutations of both BRCA genes. The BRCA1 mutation on exon 11 (3358TA) was identified originally in the index case and subsequently in 18 members of this family, whereas the same mutation was not detected in a related family member with male breast cancer. The male breast cancer patient led to the identification, through mutational analysis, of a new BRCA2 mutation (8756delA). This BRCA2 mutation was also found in the male breast cancer patient's daughter. The discovery of the BRCA2 mutation allowed us to alert the patient's daughter who, otherwise, could be falsely reassured since she had a negative BRCA1 test

    Disease-specific and general health-related quality of life in newly diagnosed prostate cancer patients: The Pros-IT CNR study

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    Disease-specific and general health-related quality of life in newly diagnosed prostate cancer patients: The Pros-IT CNR study

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    Background: The National Research Council (CNR) prostate cancer monitoring project in Italy (Pros-IT CNR) is an observational, prospective, ongoing, multicentre study aiming to monitor a sample of Italian males diagnosed as new cases of prostate cancer. The present study aims to present data on the quality of life at time prostate cancer is diagnosed. Methods: One thousand seven hundred five patients were enrolled. Quality of life is evaluated at the time cancer was diagnosed and at subsequent assessments via the Italian version of the University of California Los Angeles-Prostate Cancer Index (UCLA-PCI) and the Short Form Health Survey (SF-12). Results: At diagnosis, lower scores on the physical component of the SF-12 were associated to older ages, obesity and the presence of 3+ moderate/severe comorbidities. Lower scores on the mental component were associated to younger ages, the presence of 3+ moderate/severe comorbidities and a T-score higher than one. Urinary and bowel functions according to UCLA-PCI were generally good. Almost 5% of the sample reported using at least one safety pad daily to control urinary loss; less than 3% reported moderate/severe problems attributable to bowel functions, and sexual function was a moderate/severe problem for 26.7%. Diabetes, 3+ moderate/severe comorbidities, T2 or T3-T4 categories and a Gleason score of eight or more were significantly associated with lower sexual function scores at diagnosis. Conclusions: Data collected by the Pros-IT CNR study have clarified the baseline status of newly diagnosed prostate cancer patients. A comprehensive assessment of quality of life will allow to objectively evaluate outcomes of different profile of care

    CMS physics technical design report : Addendum on high density QCD with heavy ions

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    Radiation-matter interaction: Absoption, Photoemission, Scattering.

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    Quantum physics describes the free radiation field and the systems of particles (like atom, molecules and solids) as well as their interaction in terms of absorption, emission and diffusion of photons. These processes are at the basis of all experimental techniques for the study of material systems, their ground state properties and excitations using light as a probe. They can be described using perturbation expansions, at the various levels of approximations. Another important point considered in this introduction is the difference between single-particle and and many-electron description of the initial, intermediate, and final states

    Chapter 6 - Basic Structural and Electronic Properties of Semiconductor Surfaces.

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    Starting from simple models, the description is extended to the surfaces delimiting 3D crystals, with the use of localized and plane wave basis set. A review of the methods is given, from semi-empirical to ab-initio DFT calculations. A report on different cases of ideal and reconstructed surfaces is given, with reference to most relevant and intriguing examples of semiconductor surfaces

    Density functional calculation of atomic structure with non-local exchange and correlation

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    A method of describing the nonlocality of the exchange and correlation energy and potential is used in a self-consistent spinless atomic calculation. The exchange and correlation potential V is analytically written and used in the calculation of the total energies and orbitals eigenvalues of the self-consistent Kohn-Sham equations for the atomic case. The results for the lighter atoms and for other examples are discussed and compared with the results obtained within the framework of the local-density approximation (LDA). We also present an analysis of the shape and asymptotic behavior of the potentials. A comparison of the outcome of the method with the results of LDA, Hartree-Fock calculations, and other approximate descriptions of nonlocality effects clearly indicates the power of the method

    Sviluppi nel Campo della Struttura Elettronica delle Superfici

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    Si ripercorrono gli esperimenti importanti e gli sviluppi teorici e interpretativi nelo studio della struttura elettronica delle superfici e delle proprietà ottiche di superficie

    ELECTRON-STATES AT Zn(0001) SURFACE

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    The electronic structure of the Zn(0001) surface is analyzed through a realistic slab calculation with an accurate tight-binding sp-d model hamiltonian. The results are compared with a recent photoemission investigation of this surface. The comparison with noble and near-noble metal surfaces, with reference to the surface states in the s-p gap at the centre of the surface Brillouin zone, is also discussed
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