Search results for "GAL"
showing 10 items of 9260 documents
Fabry Disease, a Complex Pathology Not Easy to Diagnose
2015
Fabry disease is a multisystemic lysosomal storage disorder, inherited in an X-linked manner. It is a defect of metabolism of the glycosphingolipids, due to the reduction or absence of the activity of lysosomal enzyme α-galactosidase A. This reduction of activity causes the storage of globotriaosylceramide and derivatives in the lysosomes, triggering a cascade of cellular events, mainly in vascular endothelium. These events are the responsible for the systemic clinical manifestations and the renal, cardiac and cerebrovascular complications, or a combination of them. The symptomatology can lead to the premature death of patient between the fourth or fifth decade of life. The first symptoms c…
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report
2012
Abstract Background Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids in the lysosomes with subsequent cellular and microvascular dysfunction. The incidence of disease is estimated at 1:40,000 in the general population, although neonatal screening initiatives have found an unexpectedly high prevalence of genetic alterations, up to 1:3,100, in newborns in Italy, and have identified a surprisingly high frequency of newborn males with genetic alterations (about 1:1,500) in Taiwan. Case presentation We des…
Bacterial Diversity in a Dynamic and Extreme Sub-Arctic Watercourse (Pasvik River, Norwegian Arctic)
2020
Microbial communities promptly respond to the environmental perturbations, especially in the Arctic and sub-Arctic systems that are highly impacted by climate change, and fluctuations in the diversity level of microbial assemblages could give insights on their expected response. 16S rRNA gene amplicon sequencing was applied to describe the bacterial community composition in water and sediment through the sub-Arctic Pasvik River. Our results showed that river water and sediment harbored distinct communities in terms of diversity and composition at genus level. The distribution of the bacterial communities was mainly affected by both salinity and temperature in sediment samples, and by oxygen…
Human γδ T-Cells: From Surface Receptors to the Therapy of High-Risk Leukemias
2018
γδ T lymphocytes are potent effector cells, capable of efficiently killing tumor and leukemia cells. Their activation is mediated by γδ T-cell receptor (TCR) and by activating receptors shared with NK cells (e.g., NKG2D and DNAM-1). γδ T-cell triggering occurs upon interaction with specific ligands, including phosphoantigens (for Vγ9Vδ2 TCR), MICA-B and UL16 binding protein (for NKG2D), and PVR and Nectin-2 (for DNAM-1). They also respond to cytokines undergoing proliferation and release of cytokines/chemokines. Although at the genomic level γδ T-cells have the potential of an extraordinary TCR diversification, in tissues they display a restricted repertoire. Recent studies have identified …
Immunosenescence and Cytomegalovirus
2010
Since Looney at al. published their seminal paper a decade ago [1] it has become clear that many of the differences in T cell immunological parameters observed between young and old people are related to the age-associated increasing prevalence of infection with the persistent β-herpesvirus HHV-5 (Cytomegalovirus). Ten years later, studies suggest that hallmark age-associated changes in peripheral blood T cell subset distribution may not occur at all in people who are not infected with this virus [[2]; Derhovanessian et al., in press]. Whether the observed changes are actually caused by CMV is an open question, but very similar, rapid changes observed in uninfected patients receiving CMV-in…
Age and immunity
2006
Abstract Longitudinal studies are defining progressive alterations to the immune system associated with increased mortality in the very elderly. Many of these changes are exacerbated by or even caused by chronic T cell stimulation by persistent antigen, particularly from Cytomegalovirus. The composition of T cell subsets, their functional integrity and representation in the repertoire are all markedly influenced by age and by CMV. How these findings relate to epidemiological, functional, genetic, genomic and proteomic studies of human T cell immunosenescence was the subject of intense debate at an international conference held just before Christmas 2005 in the Black Forest.
Report from the second cytomegalovirus and immunosenescence workshop
2011
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.; International audience; The Second International Workshop on CMV & Immunosenescence was held in Cambridge, UK, 2-4th December, 2010. The presentations covered four separate sessions: cytomegalovirus and T cell phenotypes; T cell memory frequency, inflation and immunosenescence; cytomegalovirus in aging, mortality and disease states; and the immunobiology of cytomegalovirus-specific T cells and effects of the virus on vacc…
Control of Murine Cytomegalovirus Infection by γδ T Cells
2015
Infections with cytomegalovirus (CMV) can cause severe disease in immunosuppressed patients and infected newborns. Innate as well as cellular and humoral adaptive immune effector functions contribute to the control of CMV in immunocompetent individuals. None of the innate or adaptive immune functions are essential for virus control, however. Expansion of γδ T cells has been observed during human CMV (HCMV) infection in the fetus and in transplant patients with HCMV reactivation but the protective function of γδ T cells under these conditions remains unclear. Here we show for murine CMV (MCMV) infections that mice that lack CD8 and CD4 αβ-T cells as well as B lymphocytes can control a MCMV i…
La actualidad de la equidad de Aristóteles. Doce tesis antiformalistas sobre el derecho y la función judicial
2014
En este trabajo se propone una lectura de la teoría aristotélica de la equidad desde los presupuestos de un enfoque argumentativo del derecho. Después de ofrecer una contextualización de la filosofía del derecho de Aristóteles en el marco de su filosofía moral (teoría de la virtud) y política (teoría del Estado), se extraen las implicaciones de la equidad para la práctica de la jurisdicción en forma de doce tesis críticas del formalismo jurídico. This paper purports an interpretation of the Aristotelian theory of equity from the point of view of an argumentative approach to law. Once the main ideas of the legal philosophy of Aristotle are framed in the context of his moral and political phi…
Aspectos jurídicos del poder. Los "ilegalismos". El "caso Sade"
2011
RESUMENSe ha dicho que una de las características jurídicas del Estado contemporáneo es la convivencia de zonas de anomia con otras de puntillosa reglamentación jurídica, y a la vez con la práctica de ciertos “ilegalismos” tolerados. Estos “ilegalismos” serían ámbitos de actividades prohibidas legalmente pero toleradas por el poder con la misión de lograr alguna otra finalidad distinta de la prevista por las leyes. El mundo del sexo es un campo típico para el ejercicio de los “ilegalismos” y la figura del Marqués de Sade se convierte en un personaje revelador del funcionamiento de esa práctica. ABSTRACT It is said that one of the characteristics of the contemporaneous legal system is the…