1,373 research outputs found

    Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery?

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    Variants in the gene SCN1A are a common genetic cause for a wide range of epilepsy phenotypes ranging from febrile seizures to Dravet syndrome. Focal onset seizures and structural lesions can be present in these patients and the question arises whether epilepsy surgery should be considered. We report eight patients (mean age 13y 11mo [SD 8y 1mo], range 3–26y; four females, four males) with SCN1A variants, who underwent epilepsy surgery. Outcomes were variable and seemed to be directly related to the patient’s anatomo‐electroclinical epilepsy phenotype. Patients with Dravet syndrome had unfavourable outcomes, whilst patients with focal epilepsy, proven to arise from a single structural lesion, had good results. We conclude that the value of epilepsy surgery in patients with an SCN1A variant rests on two issues: understanding whether the variant is pathogenic and the patient’s anatomo‐electroclinical phenotype. Careful evaluation of epilepsy phenotype integrated with understanding the significance of genetic variants is essential in determining a patient’s suitability for epilepsy surgery. Patients with focal onset epilepsy may benefit from epilepsy surgery, whereas those with Dravet syndrome do not

    Radiative contribution to neutrino masses and mixing in Ον\mu\nuSSM

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    In an extension of the minimal supersymmetric standard model (popularly known as the μν\mu\nuSSM), three right handed neutrino superfields are introduced to solve the μ\mu-problem and to accommodate the non-vanishing neutrino masses and mixing. Neutrino masses at the tree level are generated through R−R-parity violation and seesaw mechanism. We have analyzed the full effect of one-loop contributions to the neutrino mass matrix. We show that the current three flavour global neutrino data can be accommodated in the μν\mu\nuSSM, for both the tree level and one-loop corrected analyses. We find that it is relatively easier to accommodate the normal hierarchical mass pattern compared to the inverted hierarchical or quasi-degenerate case, when one-loop corrections are included.Comment: 51 pages, 14 figures (58 .eps files), expanded introduction, other minor changes, references adde

    Spontaneous R-Parity Violation, A4A_4 Flavor Symmetry and Tribimaximal Mixing

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    We explore the possibility of spontaneous R parity violation in the context of A4A_4 flavor symmetry. Our model contains SU(3)c×SU(2)L×U(1)YSU(3)_c \times SU(2)_L \times U(1)_Y singlet matter chiral superfields which are arranged as triplet of A4A_4 and as well as few additional Higgs chiral superfields which are singlet under MSSM gauge group and belong to triplet and singlet representation under the A4A_4 flavor symmetry. R parity is broken spontaneously by the vacuum expectation values of the different sneutrino fields and hence we have neutrino-neutralino as well as neutrino-MSSM gauge singlet higgsino mixings in our model, in addition to the standard model neutrino- gauge singlet neutrino, gaugino-higgsino and higgsino-higgsino mixings. Because all of these mixings we have an extended neutral fermion mass matrix. We explore the low energy neutrino mass matrix for our model and point out that with some specific constraints between the sneutrino vacuum expectation values as well as the MSSM gauge singlet Higgs vacuum expectation values, the low energy neutrino mass matrix will lead to a tribimaximal mixing matrix. We also analyze the potential minimization for our model and show that one can realize a higher vacuum expectation value of the SU(3)c×SU(2)L×U(1)YSU(3)_c \times SU(2)_L \times U(1)_Y singlet sneutrino fields even when the other sneutrino vacuum expectation values are extremely small or even zero.Comment: 18 page

    Biphasic synovial sarcoma in the cervical spine: Case report

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    Synovial sarcoma is a rare malignant neoplasm of soft tissue that typically arising near large joints of the upper and lower extremities in young adult males. Only 3% of these neoplasms have been found to arise in the head and neck region. To our knowledge, there are limited reports in the literature of this neoplasm in the cervical spine

    Search for Exotic Strange Quark Matter in High Energy Nuclear Reactions

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    We report on a search for metastable positively and negatively charged states of strange quark matter in Au+Pb reactions at 11.6 A GeV/c in experiment E864. We have sampled approximately six billion 10% most central Au+Pb interactions and have observed no strangelet states (baryon number A < 100 droplets of strange quark matter). We thus set upper limits on the production of these exotic states at the level of 1-6 x 10^{-8} per central collision. These limits are the best and most model independent for this colliding system. We discuss the implications of our results on strangelet production mechanisms, and also on the stability question of strange quark matter.Comment: 21 pages, 9 figures, to be published in Nuclear Physics A (Carl Dover memorial edition
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