3,230 research outputs found

    A nonequilibrium ensemble formalism: Criterion for truncation of description

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    In the framework of a nonequilibrium statistical ensemble formalism, consisting of the so-called Nonequilibrium Statistical Operator Method, we discuss the question of the choice of the space of thermohydrodynamic states. We consider in particular the relevant question of the truncation of description (reduction of the dimension of the state space). A criterion for justifying the different levels of truncation is derived. It depends on the range of wavelengths and frequencies which are the relevant ones for the characterization, in terms of normal modes, of the thermohydrodynamic motion in a nonequilibrium open system. Applications to the cases of thermal-sensitive resins and of n-doped polar semiconductors are done, numerical results are presented, and experimental observation is discussed. (C) 2000 American Institute of Physics. [S0021-9606(00)50705-3].11262692270

    Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

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    Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic hopes. Here we describe a new syndromic developmental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented by 11 patients from six independent consanguineous families. Seizure onset occurred in the first 2 months of life in all patients. All 10 patients, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight patients had joint contractures and/or pes equinovarus. Seven patients presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1-/- mouse model. Four patients died before 4 years of age. GAD1 encodes the glutamate decarboxylase enzyme GAD67, a critical actor of the γ-aminobutyric acid (GABA) metabolism as it catalyses the decarboxylation of glutamic acid to form GABA. Our findings evoke a novel syndrome related to GAD67 deficiency, characterized by the unique association of developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele

    Tuberculosis screening in patients receiving biological therapy

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    AIM: Biological therapies are a risk factor for tuberculosis (TB). Portuguese recommendations recommend universal baseline screening for TB before starting biologics (2006) and annually thereafter if screened negative (2012 update). The gain with re-screening remains unknown. We aimed to i)identify the risk of latent TB infection at baseline screening among patients candidates to initiate biologics ii)present follow-up results for patients receiving different biological therapies and analyse intolerance or toxicity related to preventive therapy, conversions of immunodiagnostic tests under biological therapy and development of active TB. METHODS: Patients screened for TB at a reference centre before starting biological therapy between 2008-2012 were identified. Medical files were retrospectively reviewed. Demographic data, screening and follow-up results and information on biological therapy were collected. EXCLUSION CRITERIA: unavailable information on initiation of biological therapy. RESULTS: 183 patients were included in the study, with 115 starting biological therapy. The baseline screening was positive in 52(45,2%) patients - 50(96,2%) were proposed for preventive treatment (2 had abnormal liver enzymes). Mild hepatotoxicity occurred in 4(8%) patients without need to interrupt TB prophylaxis. No cases of active TB occurred during follow-up in patients with positive baseline screening. Among the 63(54,8%) patients who screened negative, 2(3,2%) developed active TB (under infliximab and adalimumab) more than one year after initiation of biologics. 26(41,3%) patients were re-screened at the TB centre. 5(19,2%) had tuberculin skin test (TST) conversion and one concomitantly undetermined IGRA. No IGRA conversions were observed. The follow-up period was 4,0 years. TB baseline screening's negative predictive value (NPV) was 96,8% (95%CI: 89,0% to 99.5%). A low rate of re-screening was observed. CONCLUSION: The rate of latent TB at baseline screening was higher than expected. Preventive treatment was well tolerated. No patients with positive baseline screening developed active TB. Efforts should be made to raise awareness concerning the risk of TB exposure, specially considering that the active TB cases were compatible with new infection. The rate of re-screening suggests a low awareness regarding current recommendations Nation-wide studies are necessary to evaluate the efficacy of the re-screening strategy and to clarify what risk groups most benefit from it

    Nuclear matter to strange matter transition in holographic QCD

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    We construct a simple holographic QCD model to study nuclear matter to strange matter transition. The interaction of dense medium and hadrons is taken care of by imposing the force balancing condition for stable D4/D6/D6 configuration. By considering the intermediate and light flavor branes interacting with baryon vertex homogeneously distributed along R^3 space and requesting the energy minimization, we find that there is a well defined transition density as a function of current quark mass. We also find that as density goes up very high, intermediate (or heavy) and light quarks populate equally as expected from the Pauli principle. In this sense, the effect of the Pauli principle is realized as dynamics of D-branes.Comment: 13 pages, 14 figure

    In vivo and in vitro tracking of erosion in biodegradable materials using non-invasive fluorescence imaging

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    Author Manuscript 2012 March 1.The design of erodible biomaterials relies on the ability to program the in vivo retention time, which necessitates real-time monitoring of erosion. However, in vivo performance cannot always be predicted by traditional determination of in vitro erosion[superscript 1, 2] , and standard methods sacrifice samples or animals[superscript 3], preventing sequential measures of the same specimen. We harnessed non-invasive fluorescence imaging to sequentially follow in vivo material-mass loss to model the degradation of materials hydrolytically (PEG:dextran hydrogel) and enzymatically (collagen). Hydrogel erosion rates in vivo and in vitro correlated, enabling the prediction of in vivo erosion of new material formulations from in vitro data. Collagen in vivo erosion was used to infer physiologic in vitro conditions that mimic erosive in vivo environments. This approach enables rapid in vitro screening of materials, and can be extended to simultaneously determine drug release and material erosion from a drug-eluting scaffold, or cell viability and material fate in tissue-engineering formulations.National Institutes of Health (U.S.) (GM/HL 49039)National Institutes of Health (U.S.) (UL1 RR 025758

    LOCUS (LOng Covid–Understanding Symptoms, events and use of services in Portugal): A three-component study protocol

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    Approximately 10% of patients experience symptoms of Post COVID-19 Condition (PCC) after a SARS-CoV-2 infection. Akin acute COVID-19, PCC may impact a multitude of organs and systems, such as the cardiovascular, respiratory, musculoskeletal, and neurological systems. The frequency and associated risk factors of PCC are still unclear among both community and hospital settings in individuals with a history of COVID-19. The LOCUS study was designed to clarify the PCC's burden and associated risk factors. LOCUS is a multi-component study that encompasses three complementary building blocks. The "Cardiovascular and respiratory events following COVID-19" component is set to estimate the incidence of cardiovascular and respiratory events after COVID-19 in eight Portuguese hospitals via electronic health records consultation. The "Physical and mental symptoms following COVID-19" component aims to address the community prevalence of self-reported PCC symptoms through a questionnaire-based approach. Finally, the "Treating and living with Post COVID-19 Condition" component will employ semi-structured interviews and focus groups to characterise reported experiences of using or working in healthcare and community services for the treatment of PCC symptoms. This multi-component study represents an innovative approach to exploring the health consequences of PCC. Its results are expected to provide a key contribution to the optimisation of healthcare services design.info:eu-repo/semantics/publishedVersio

    The potential of hematopoietic growth factors for treatment of Alzheimer's disease: a mini-review

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    There are no effective interventions that significantly forestall or reverse neurodegeneration and cognitive decline in Alzheimer's disease. In the past decade, the generation of new neurons has been recognized to continue throughout adult life in the brain's neurogenic zones. A major challenge has been to find ways to harness the potential of the brain's own neural stem cells to repair or replace injured and dying neurons. The administration of hematopoietic growth factors or cytokines has been shown to promote brain repair by a number of mechanisms, including increased neurogenesis, anti-apoptosis and increased mobilization of bone marrow-derived microglia into brain. In this light, cytokine treatments may provide a new therapeutic approach for many brain disorders, including neurodegenerative diseases like Alzheimer's disease. In addition, neuronal hematopoietic growth factor receptors provide novel targets for the discovery of peptide-mimetic drugs that can forestall or reverse the pathological progression of Alzheimer's disease
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