Search results for "Multiple"
showing 10 items of 2678 documents
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
2022
Abstract Background Arthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal onset contractures affecting two or more joints. Its incidence is about 1 in 3000 live births. AMC may be distinguished into amyoplasia, distal and syndromic arthrogryposis. Distal arthrogryposis (DA) predominantly affects hands and feet. It is currently divided into more than ten subtypes (DA1, DA2A/B, DA3–10), based on clinical manifestations, gene mutations and inheritance pattern. Among them, only a few patients with DA5 have been reported. It is associated to a gain-of-function pathogenic variant of the PIEZO2 gene, encoding for an …
Multiple criteria assessment of methods for forecasting building thermal energy demand
2020
Abstract Nowadays worldwide directives have focused the attention on improving energy efficiency in the building sector. The research of models able to predict the energy consumption from the first design and energy planning phase is conducted to improve building sustainability. Use of traditional forecasting tools for building thermal energy demand tends to encounter difficulties relevant to the amount of data required, implementation of the models, computational costs and inability to generalize the output. Therefore, many studies focused on the research and development of alternative resolution methods, but the choice of the most convenient is not clear and simple. Single comparison of s…
XMM spectroscopy of TWA 5
2006
We present results of X-ray spectroscopy for TWA 5, a member of the young TW Hydrae association, observed with XMM-Newton. TWA 5 is a multiple system which shows H{alpha} emission, a signature typical of classical T Tauri stars, but no infrared excess. From this analysis of the RGS and EPIC spectra, we have derived the emission measure distribution vs. temperature of the X-ray emitting plasma, its abundances, and the electron density.
Constraints on neutrino emission from nearby galaxies using the 2MASS redshift survey and IceCube
2020
The distribution of galaxies within the local universe is characterized by anisotropic features. Observatories searching for the production sites of astrophysical neutrinos can take advantage of these features to establish directional correlations between a neutrino dataset and overdensities in the galaxy distribution in the sky. The results of two correlation searches between a seven-year time-integrated neutrino dataset from the IceCube Neutrino Observatory, and the 2MASS Redshift Survey (2MRS) catalog are presented here. The first analysis searches for neutrinos produced via interactions between diffuse intergalactic Ultra-High Energy Cosmic Rays (UHECRs) and the matter contained within …
Genetics and novel aspects of therapies in systemic lupus erythematosus.
2015
Autoimmune diseases, such as rheumatoid arthritis, multiple sclerosis, autoimmune hepatitis and inflammatory bowel disease, have complex pathogeneses and the factors which cause these disorders are not well understood. But all have in common that they arise from a dysfunction of the immune system, interpreting self components as foreign antigens. Systemic lupus erythematosus (SLE) is one of these complex inflammatory disorders that mainly affects women and can lead to inflammation and severe damage of virtually any tissue and organ. Recently, the application of advanced techniques of genome-wide scanning revealed more genetic information about SLE than previously possible. These case-contro…
Role of Hsp70 in Multiple Sclerosis: An Overview
2019
For many years heat shock protein 70 (Hsp70) was considered exclusively an intracellular chaperone contributing to protein proteostasis and in apoptotic pathway block. Lately it has been demonstrated that Hsp70 is actively released in the extracellular environment, thereby promoting the activation of the immune system by stimulating innate and adaptive responses through the activation of APCs. Its expression in the nervous system is induced in a variety of pathological conditions. Emerging evidences displayed that Hsp70 is a critical regulator in normal neural cells. Multiple sclerosis (MS) is an autoimmune disease of the central nervous system (CNS) directed against myelin antigens. In thi…
Hsp70 and Its Molecular Role in Nervous System Diseases
2011
Heat shock proteins (HSPs) are induced in response to many injuries including stroke, neurodegenerative disease, epilepsy, and trauma. The overexpression of one HSP in particular, Hsp70, serves a protective role in several different models of nervous system injury, but has also been linked to a deleterious role in some diseases. Hsp70 functions as a chaperone and protects neurons from protein aggregation and toxicity (Parkinson disease, Alzheimer disease, polyglutamine diseases, and amyotrophic lateral sclerosis), protects cells from apoptosis (Parkinson disease), is a stress marker (temporal lobe epilepsy), protects cells from inflammation (cerebral ischemic injury), has an adjuvant role i…
Natural Triterpene Glycosides for Antibody Recognition
2016
Multiple sclerosis is an autoimmune disease that affects the central nervous system. The key role of the glycosylation in disease pathogenesis has been previously studied and the synthetic N-glucosylated peptide CSF114(Glc) proved its efficiency in autoantibody recognition in the sera of multiple sclerosis patients. Herein, pure natural triterpene glycosides containing different glycosyl moieties were isolated and tested in multiple sclerosis patientsʼ sera to better understand the role of glycosylation. They were selected taking into account the nature and complexity of their osidic part. Five triterpene glycosides were isolated from several plants with more than 95 % purity. The interacti…
The matricellular protein SPARC supports follicular dendritic cell networking toward Th17 responses.
2011
Abstract Lymphnode swelling during immune responses is a transient, finely regulated tissue rearrangement, accomplished with the participation of the extracellular matrix. Here we show that murine and human reactive lymph nodes express SPARC in the germinal centres. Defective follicular dendritic cell networking in SPARC-deficient mice is accompanied by a severe delay in the arrangement of germinal centres and development of humoral autoimmunity, events that are linked to Th17 development. SPARC is required for the optimal and rapid differentiation of Th17 cells, accordingly we show delayed development of experimental autoimmune encephalomyelitis whose pathogenesis involves Th17. Not only h…
Implications of Managerial Framing of Stakeholders in Environmental Reports
2014
Corporate environmental reports are increasingly viewed as products of the managerial framing of responsibility and stakeholders. This notion encouraged us to conduct a multiple case study on how stakeholders are framed in environmental reports. We show how interaction between companies and stakeholders is described in the environmental reports of three firms operating in different business sectors – financial, aviation and energy – over a period of five years. We use an inductively oriented content analysis to identify five categories of relationships being constructed in the data: demanding, promoting, committing, donating and preventing. We then show how commitment and promotion dominate…