228 research outputs found

    The impact of obsessive dimension on symptoms and functioning in schizophrenia

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    Obsessive Compulsive Symptoms (OCS) and Disorder (OCD) occur frequently in patients with schizophrenia. Nevertheless the impact of OCS/OCD on clinical characteristics and outcome of schizophrenia remains controversial. The aim of the present study is to examine the effect of obsessive-compulsive dimension on symptom expression and functioning in schizophrenia. Sixty patients affected by schizophrenia completed the SCID-IV, the Positive and Negative Syndrome Scale, the Yale-Brown Obsessive-Compulsive Scale, the Social and Occupational Functioning Assessment Scale and the Strauss and Carpenter Level of Functioning Rating Scale. Obsessive-compulsive dimension was associated neither with positive or disorganization symptoms nor with negative symptoms. By contrast, it adversely affected levels of functioning, with a major impact exerted by compulsions rather than obsessions. Obsessive-compulsive dimension appears to be independent from negative and positive symptoms of schizophrenia and independently decreases social functioning

    Características geoquímicas de las cuñas de hielo en Puerto Deseado (Santa Cruz, Argentina): implicancias paleoambientales y cronológicas

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    Ground wedge structures of cryogenic origin are common in the Quaternary sediments along the coast of the Patagonia, and their formation is related to climatic cold events experienced by this area in the Late Quaternary. The infilling sediments of two wedges generations were analyzed in the area of Puerto Deseado. Bulk chemistry (major elements), X-ray diffraction (XRD), morphoscopic observations with Scanning Electronic Microscope (SEM) and chemical analyses of volcanic glass shards were undertaken to provide indications about infilling sediment provenience, along with chronological constraint for wedge formation. Bulk chemistry and XRD patterns indicate a significant SiO2- enriched composition of the sediment infilling compared to the most of the loess deposits of the North Argentina and the present day dust originated in Patagonia. This was interpreted as due to the nature of the bedrock present over the Deseado Massif. SEM morphoscopic characteristics of glass shards evidence typical aeolian reworking features, with impact structures and indented edges of the volcanic fragments. Chemical analyses of the glass shards indicate that they were probably generated by the H0 eruption (17,300-17,400 cal yr BP) of the Hudson volcano. Volcanological data indicate that H0 eruption dispersed toward NE, but volcanic glasses were available for reworking due to a WNW component in the western wind direction. Over the Deseado Massif structural high the glass shards mixed with sediments enriched in SiO2, and were eventually deflated further to SE reaching the present coastal area and infilling the frost cracks. The age of the glass shards (17,300-17,400 cal yr BP) and that of the sandy layer affected by cryogenic structures (14,670±750 yr BP) well constrain to the Late Glacial both wedge generations.Las cuñas de hielo son estructuras comunes en sedimentos cuaternarios a lo largo de la costa patagónica, y su formación está relacionada con eventos climáticos fríos experimentados en esta área en el Cuaternario Tardío. Se analizaron sedimentos que rellenan dos generaciones de cuñas de hielo en la zona de Puerto Deseado. Análisis químicos de elementos mayores, difractometría de rayos X (DRX), observaciones con microscopio electrónico de barrido (SEM) y análisis químico de fragmentos de vidrio volcánico contenidos en el sedimento que rellena las cuñas proporcionaron información sobre la precedencia del relleno, además de inferir antecedentes cronológicos sobre su formación. La composición química del sedimento y la difracción de rayos X indican una composición enriquecida en SiO2 en comparación con la mayoría de los depósitos de loess del norte de Argentina y el polvo actual originado en la Patagonia. Esto fue interpretado como producto de la influencia de las rocas que constituyen el macizo del Deseado. Las características morfológicas de los fragmentos de vidrio evidencian rasgos típicos de retrabajo eólico, con presencia de estructuras de impacto y bordes dentados. Los análisis químicos de los fragmentos de vidrio son compatibles con un origen en la erupción H0 (17.300-17.400 cal yr BP) del volcán Hudson. Datos volcanológicos indican que la erupción H0 originó una pluma de dispersión hacia el NE. El material volcánico dispersado por esta erupción quedó disponible para ser retrabajado por una componente WNW de los vientos del W dominantes en la zona. Sobre el macizo del Deseado, los fragmentos de vidrio se mezclaron con sedimentos ricos en SiO2 y fueron adicionalmente, enriquecidos en este elemento hasta alcanzar el área de costa actual, rellenando las cuñas de hielo. La edad de los fragmentos de vidrio (17.300-17.400 cal yr BP) y de la capa arenosa afectada por las estructuras criogénicas (14.670±750 años BP) limitan al glacial tardío la formación de ambas generaciones de cuñas.Centro de Estudios Integrales de la Dinámica Exógen

    Compound heterozygous SCN5A gene mutations in asymptomatic Brugada syndrome child

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    BACKGROUND. Loss-of-function mutations in the SCN5A gene, encoding the cardiac Nav1.5 sodium channel, have been previously associated with Brugada syndrome (BrS). Despite the low prevalence of the disease, we identified a patient carrying two SCN5A mutations. We aimed at establishing a correlation between genotype, clinical phenotype and in vitro sodium current.MATERIALS AND METHODS. A 3 years old boy presented with right bundle branch block and ST-segment elevation. Genetic analysis and electrophysiology studies in transfected HEK293 cells were performed to identify possibly disease-causing variants and assess their effect on sodium channel function.RESULTS. Two SCN5A variants were identified: a new frameshift deletion causing premature truncation of the putative protein (c.3258_3261del4) and a missense substitution (p.F1293S). In vitro studies revealed that the truncated mutant did not produce functional channels and decreased total sodium current when co-expressed with p.F1293S channels compared to p.F1293S alone. In addition, p.F1293S channels presented with a steep slope of steady-state activation voltage-dependency, which was shifted towards more positive potentials by the co-expression with the truncated channel. p.F1293S channels also showed shift towards more positive potentials of the steady-state inactivation both alone and co-expressed with the deletion mutant.CONCLUSIONS. Our data identified a severe reduction of sodium channel current associated with two distinct SCN5A changes. However, all mutation carriers were asymptomatic and BrS ECG was observed only transiently in the compound heterozygous subject. These observations underline the difficulty of genotype/phenotype correlations in BrS patients and support the idea of a polygenic disorder, where different mutations and variants can contribute to the clinical phenotype

    The still under-investigated role of cognitive deficits in PML diagnosis

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    Background: Despite cognitive deficits frequently represent the first clinical manifestations of Progressive Multifocal Leukoencephalopathy (PML) in Natalizumab-treated MS patients, the importance of cognitive deficits in PML diagnosis is still under-investigated. The aim of the current study is to investigate the cognitive deficits at PML diagnosis in a group of Italian patients with PML. Methods: Thirty-four PML patients were included in the study. The demographic and clinical data, the lesion load and localization, and the longitudinal clinical course was compared between patients with (n = 13) and without (n = 15) cognitive deficit upon PML suspicion (the remaining six patients were asymptomatic). Clinical presentation of cognitive symptoms was described in detail. Result: After symptoms detection, the time to diagnosis resulted to be shorter for patients presenting with cognitive than for patients with non cognitive onset (p = 0.03). Within patients with cognitive onset, six patients were presenting with language and/or reading difficulties (46.15%); five patients with memory difficulties (38.4%); three patients with apraxia (23.1%); two patients with disorientation (15.3%); two patients with neglect (15.3%); one patients with object agnosia (7.7%), one patient with perseveration (7.7%) and one patient with dementia (7.7%). Frontal lesions were less frequent (p = 0.03), whereas temporal lesions were slightly more frequent (p = 0.06) in patients with cognitive deficits. The longitudinal PML course seemed to be more severe in cognitive than in non cognitive patients (F = 2.73, p = 0.03), but differences disappeared (F = 1.24, p = 0.29) when balancing for the incidence of immune reconstitution syndrome and for other treatments for PML (steroids, plasma exchange (PLEX) and other therapies (Mefloquine, Mirtazapine, Maraviroc). Conclusion: Cognitive deficits at PML onset manifest with symptoms which are absolutely rare in MS. Their appearance in MS patients should strongly suggest PML. Clinicians should be sensitive to the importance of formal neuropsychological evaluation, with particular focus on executive function, which are not easily detected without a formal assessment

    The Mu2e Crystal Calorimeter: An Overview

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    The Mu2e experiment at Fermilab will search for the standard model-forbidden, charged lepton flavour-violating conversion of a negative muon into an electron in the field of an aluminium nucleus. The distinctive signal signature is represented by a mono-energetic electron with an energy near the muon's rest mass. The experiment aims to improve the current single-event sensitivity by four orders of magnitude by means of a high-intensity pulsed muon beam and a high-precision tracking system. The electromagnetic calorimeter complements the tracker by providing high rejection power in muon to electron identification and a seed for track reconstruction while working in vacuum in presence of a 1 T axial magnetic field and in a harsh radiation environment. For 100 MeV electrons, the calorimeter should achieve: (a) a time resolution better than 0.5 ns, (b) an energy resolution <10%, and (c) a position resolution of 1 cm. The calorimeter design consists of two disks, each loaded with 674 undoped CsI crystals read out by two large-area arrays of UV-extended SiPMs and custom analogue and digital electronics. We describe here the status of construction for all calorimeter components and the performance measurements conducted on the large-sized prototype with electron beams and minimum ionizing particles at a cosmic ray test stand. A discussion of the calorimeter's engineering aspects and the on-going assembly is also reported

    Mu2e Crystal Calorimeter Readout Electronics: Design and Characterisation

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    The Mu2e experiment at Fermi National Accelerator Laboratory will search for the charged-lepton flavour-violating neutrinoless conversion of negative muons into electrons in the Coulomb field of an Al nucleus. The conversion electron with a monoenergetic 104.967 MeV signature will be identified by a complementary measurement carried out by a high-resolution tracker and an electromagnetic calorimeter, improving by four orders of magnitude the current single-event sensitivity. The calorimeter—composed of 1348 pure CsI crystals arranged in two annular disks—has a high granularity, 10% energy resolution and 500 ps timing resolution for 100 MeV electrons. The readout, based on large-area UV-extended SiPMs, features a fully custom readout chain, from the analogue front-end electronics to the digitisation boards. The readout electronics design was validated for operation in vacuum and under magnetic fields. An extensive radiation hardness certification campaign certified the FEE design for doses up to 100 krad and 1012 n1MeVeq/cm2 and for single-event effects. A final vertical slice test on the final readout chain was carried out with cosmic rays on a large-scale calorimeter prototype

    The impact of chest CT body composition parameters on clinical outcomes in COVID-19 patients

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    We assessed the impact of chest CT body composition parameters on outcomes and disease severity at hospital presentation of COVID-19 patients, focusing also on the possible mediation of body composition in the relationship between age and death in these patients. Chest CT scans performed at hospital presentation by consecutive COVID-19 patients (02/27/2020-03/13/2020) were retrospectively reviewed to obtain pectoralis muscle density and total, visceral, and intermuscular adipose tissue areas (TAT, VAT, IMAT) at the level of T7-T8 vertebrae. Primary outcomes were: hospitalization, mechanical ventilation (MV) and/or death, death alone. Secondary outcomes were: C-reactive protein (CRP), oxygen saturation (SO2), CT disease extension at hospital presentation. The mediation of body composition in the effect of age on death was explored. Of the 318 patients included in the study (median age 65.7 years, females 37.7%), 205 (64.5%) were hospitalized, 68 (21.4%) needed MV, and 58 (18.2%) died. Increased muscle density was a protective factor while increased TAT, VAT, and IMAT were risk factors for hospitalization and MV/death. All these parameters except TAT had borderline effects on death alone. All parameters were associated with SO2 and extension of lung parenchymal involvement at CT; VAT was associated with CRP. Approximately 3% of the effect of age on death was mediated by decreased muscle density. In conclusion, low muscle quality and ectopic fat accumulation were associated with COVID-19 outcomes, VAT was associated with baseline inflammation. Low muscle quality partly mediated the effect of age on mortality.We assessed the impact of chest CT body composition parameters on outcomes and disease severity at hospital presentation of COVID-19 patients, focusing also on the possible mediation of body composition in the relationship between age and death in these patients. Chest CT scans performed at hospital presentation by consecutive COVID-19 patients (02/ 27/2020-03/13/2020) were retrospectively reviewed to obtain pectoralis muscle density and total, visceral, and intermuscular adipose tissue areas (TAT, VAT, IMAT) at the level of T7-T8 vertebrae. Primary outcomes were: hospitalization, mechanical ventilation (MV) and/or death, death alone. Secondary outcomes were: C-reactive protein (CRP), oxygen saturation (SO2), CT disease extension at hospital presentation. The mediation of body composition in the effect of age on death was explored. Of the 318 patients included in the study (median age 65.7 years, females 37.7%), 205 (64.5%) were hospitalized, 68 (21.4%) needed MV, and 58 (18.2%) died. Increased muscle density was a protective factor while increased TAT, VAT, and IMAT were risk factors for hospitalization and MV/death. All these parameters except TAT had borderline effects on death alone. All parameters were associated with SO2 and extension of lung parenchymal involvement at CT; VAT was associated with CRP. Approximately 3% of the effect of age on death was mediated by decreased muscle density. In conclusion, low muscle quality and ectopic fat accumulation were associated with COVID-19 outcomes, VAT was associated with baseline inflammation. Low muscle quality partly mediated the effect of age on mortality
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