113 research outputs found

    The role of nicotinic cholinergic neurotransmission in delusional thinking

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    Delusions are a difficult-to-treat and intellectually fascinating aspect of many psychiatric illnesses. Although scientific progress on this complex topic has been challenging, some recent advances focus on dysfunction in neural circuits, specifically in those involving dopaminergic and glutamatergic neurotransmission. Here we review the role of cholinergic neurotransmission in delusions, with a focus on nicotinic receptors, which are known to play a part in some illnesses where these symptoms appear, including delirium, schizophrenia spectrum disorders, bipolar disorder, Parkinson, Huntington, and Alzheimer diseases. Beginning with what we know about the emergence of delusions in these illnesses, we advance a hypothesis of cholinergic disturbance in the dorsal striatum where nicotinic receptors are operative. Striosomes are proposed to play a central role in the formation of delusions. This hypothesis is consistent with our current knowledge about the mechanism of action of cholinergic drugs and with our abstract models of basic cognitive mechanisms at the molecular and circuit levels. We conclude by pointing out the need for further research both at the clinical and translational levels.Fil: Caton, Michael. No especifíca;Fil: Ochoa, Enrique L. M.. University of California at Davis; Estados UnidosFil: Barrantes, Francisco Jose. Pontificia Universidad Católica Argentina "Santa María de los Buenos Aires". Instituto de Investigaciones Biomédicas. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Biomédicas; Argentin

    In-situ and Ex-situ characterization of III-V semiconductor materials and solar cells upon 10 MEV proton irradiation

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    In this work we present the results and analysis of a 10 MeV proton irradiation experiment performed on III-V semiconductor materials and solar cells. A set of representative devices including lattice-matched InGaP/GaInAs/Ge triple junction solar cells and single junction GaAs and InGaP component solar cells and a Ge diode were irradiated for different doses. The devices were studied in-situ before and after each exposure at dark and 1 sun AM0 illumination conditions, using a solar simulator connected to the irradiation chamber through a borosilicate glass window. Ex-situ characterization techniques included dark and 1 sun AM0 illumination I-V measurements. Furthermore, numerical simulation of the devices using D-AMPS-1D code together with calculations based on the TRIM software were performed in order to gain physical insight on the experimental results. The experiment also included the proton irradiation of an unprocessed Ge solar cell structure as well as the irradiation of a bare Ge(100) substrate. Ex-situ material characterization, after radioactive deactivation of the samples, includes Raman spectroscopy and spectral reflectivity

    Líneas de investigación del laboratorio de sistemas de información avanzados

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    El Laboratorio de Sistemas de Información Avanzados (LSIA) de la Facultad de Ingeniería de la Universidad de Buenos Aires (UBA) cuenta con distintas líneas de investigación: Internet de las Cosas , Extracción de relaciones semánticas en español, Explotación de Información, Dinámica de Tecleo, Redes definidas por software y Computación afectiva colectiva. En varias de estas líneas se han obtenido aportes relevantes al área mientras que las líneas que están comenzando mantienen objetivos prometedores.Eje: Innovación en Sistemas de SoftwareRed de Universidades con Carreras en Informática (RedUNCI

    Líneas de investigación del laboratorio de sistemas de información avanzados

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    El Laboratorio de Sistemas de Información Avanzados (LSIA) de la Facultad de Ingeniería de la Universidad de Buenos Aires (UBA) cuenta con distintas líneas de investigación: Internet de las Cosas , Extracción de relaciones semánticas en español, Explotación de Información, Dinámica de Tecleo, Redes definidas por software y Computación afectiva colectiva. En varias de estas líneas se han obtenido aportes relevantes al área mientras que las líneas que están comenzando mantienen objetivos prometedores.Eje: Innovación en Sistemas de SoftwareRed de Universidades con Carreras en Informática (RedUNCI

    Líneas de investigación del laboratorio de sistemas de información avanzados: dinámica de tecleo, computación afectiva, extracción de relaciones semánticas, blockchain & smart contracts

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    El Laboratorio de Sistemas de Información Avanzados (LSIA) de la Facultad de Ingeniería de la Universidad de Buenos Aires (UBA) cuenta con distintas líneas de investigación: Dinámica de Tecleo, Extracción de relaciones semánticas en español, Computación afectiva, Blockchain y Smart Contracts. En varias de estas líneas se han obtenido aportes relevantes al área mientras que otras están comenzando y mantienen objetivos prometedores.Eje: Innovación en Sistemas de Software.Red de Universidades con Carreras en Informátic

    Líneas de investigación del laboratorio de sistemas de información avanzados: dinámica de tecleo, computación afectiva, extracción de relaciones semánticas, blockchain & smart contracts

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    El Laboratorio de Sistemas de Información Avanzados (LSIA) de la Facultad de Ingeniería de la Universidad de Buenos Aires (UBA) cuenta con distintas líneas de investigación: Dinámica de Tecleo, Extracción de relaciones semánticas en español, Computación afectiva, Blockchain y Smart Contracts. En varias de estas líneas se han obtenido aportes relevantes al área mientras que otras están comenzando y mantienen objetivos prometedores.Eje: Innovación en Sistemas de Software.Red de Universidades con Carreras en Informátic

    Líneas de investigación del laboratorio de sistemas de información avanzados: dinámica de tecleo, computación afectiva, extracción de relaciones semánticas, blockchain & smart contracts

    Get PDF
    El Laboratorio de Sistemas de Información Avanzados (LSIA) de la Facultad de Ingeniería de la Universidad de Buenos Aires (UBA) cuenta con distintas líneas de investigación: Dinámica de Tecleo, Extracción de relaciones semánticas en español, Computación afectiva, Blockchain y Smart Contracts. En varias de estas líneas se han obtenido aportes relevantes al área mientras que otras están comenzando y mantienen objetivos prometedores.Eje: Innovación en Sistemas de Software.Red de Universidades con Carreras en Informátic

    Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

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    BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies. METHODS: FLNC was studied using next-generation sequencing in 2,877 patients with inherited cardiovascular diseases. A characteristic phenotype was identified in probands with truncating mutations in FLNC. Clinical and genetic evaluation of 28 affected families was performed. Localization of filamin C in cardiac tissue was analyzed in patients with truncating FLNC mutations using immunohistochemistry. RESULTS: Twenty-three truncating mutations were identified in 28 probands previously diagnosed with dilated, arrhythmogenic, or restrictive cardiomyopathies. Truncating FLNC mutations were absent in patients with other phenotypes, including 1,078 patients with hypertrophic cardiomyopathy. Fifty-four mutation carriers were identified among 121 screened relatives. The phenotype consisted of left ventricular dilation (68%), systolic dysfunction (46%), and myocardial fibrosis (67%); inferolateral negative T waves and low QRS voltages on electrocardiography (33%); ventricular arrhythmias (82%); and frequent sudden cardiac death (40 cases in 21 of 28 families). Clinical skeletal myopathy was not observed. Penetrance was >97% in carriers older than 40 years. Truncating mutations in FLNC cosegregated with this phenotype with a dominant inheritance pattern (combined logarithm of the odds score: 9.5). Immunohistochemical staining of myocardial tissue showed no abnormal filamin C aggregates in patients with truncating FLNC mutations. CONCLUSIONS: Truncating mutations in FLNC caused an overlapping phenotype of dilated and left-dominant arrhythmogenic cardiomyopathies complicated by frequent premature sudden death. Prompt implantation of a cardiac defibrillator should be considered in affected patients harboring truncating mutations in FLNC.Instituto de Salud Carlos III [PI11/0699, PI14/0967, PI14/01477, RD012/0042/0029, RD012/0042/0049, RD012/0042/0066, RD12/0042/0069]; Spanish Ministry of Economy and Competitiveness [SAF2015-71863-REDT]; Plan Nacional de I+D+I; Plan Estatalde I+D+I, European Regional Development Fund; Health in Code SLS

    Effects of 10 MeV proton irradiation on III-V solar cells

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    In this work we present our latest results and analysis of a 10 MeV proton irradiation experiment performed on III-V solar cells. A set of representative devices were irradiated for different fluences, including latticematched GaInP/GaInAs/Ge triple junction, GaInP/Ge double junction, and GaAs and Ge single junction solar cells. The methodology applied included the irradiation of two devices of each type; for a better control of the measurements, non-irradiated devices with the same characteristics of those irradiated were used as reference. The devices were monitored before and after each exposure by in-situ characterization of the electrical response under dark and under illumination using a solar simulator connected to the irradiation chamber through a borosilicate glass window. Ex-situ characterization techniques included dark and 1 sun AM0 illumination I-V curve and external quantum efficiency measurements. Furthermore, results of the numerical simulation of devices with D-AMPS-1D code are presented in order to give a physical interpretation of the results. DLTS spectroscopy preliminary results for single junction GaAs cells are also presented

    Malignant melanoma arising from a perianal fistula and harbouring a BRAF gene mutation: a case report

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    <p>Abstract</p> <p>Background</p> <p>Melanoma of the anal region is a very uncommon disease, accounting for only 0.2-0.3% of all melanoma cases. Mutations of the <it>BRAF </it>gene are usually absent in melanomas occurring in this region as well as in other sun-protected regions. The development of a tumour in a longstanding perianal fistula is also extremely rare. More frequent is the case of a tumour presenting as a fistula, that is, the fistula being a consequence of the cancerous process, although we have found only two cases of fistula-generating melanomas reported in the literature.</p> <p>Case Presentation</p> <p>Here we report the case of a 38-year-old male who presented with a perianal fistula of four years of evolution. Histopathological examination of the fistulous tract confirmed the presence of malignant melanoma. Due to the small size and the central location of the melanoma inside the fistulous tract, we believe the melanoma reported here developed in the epithelium of the fistula once the latter was already formed. Resected sentinel lymph nodes were negative and the patient, after going through a wide local excision, remains disease-free nine years after diagnosis. DNA obtained from melanoma tissue was analysed by automated direct sequencing and the <it>V600E </it>(<it>T1799A</it>) mutation was detected in exon 15 of the <it>BRAF </it>gene.</p> <p>Conclusion</p> <p>Since fistulae experience persistent inflammation, the fact that this melanoma harbours a <it>BRAF </it>mutation strengthens the view that oxidative stress caused by inflammatory processes plays an important role in the genesis of <it>BRAF </it>gene mutations.</p
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