Several lines of evidence implicate the Cytotoxic T Lymphocyte Antigen 4 (CTLA4) gene in susceptibility to autoimmune disease. We have examined the association of systemic lupus erythematosus (SLE) with polymorhisms within the CTLA4 gene that were previously proposed to regulate CTLA-4 function: a single nucleotide polymorphism (SNP) in position þ 49 of exon 1 and a dinucleotide repeat in the 3 0 untranslated region (3'UTR). The 3 0 UTR repeat showed a significant association with SLE, with one allele conferring susceptibility and another conferring protection to the disease. The associated alleles do not support previous suggestions of an allele size-dependent effect of the 3' UTR polymorphism in autoimmunity development and instead suggest that it is in linkage disequilibrium with a true causative locus. No association of the exon 1 SNP with SLE was found in our population. Given the conflicting results obtained in different studies on the association of SLE with this polymorphism, we performed a meta-analysis including seven previously published studies and the present one. Significantly increased and decreased risks for SLE were found for carriers of the G allele and the A allele, respectively. The functional characterization of disease-associated CTLA4 gene variants is now required to elucidate their role in the pathogenesis of SLE and other autoimmune diseases.
Background: CD4 + CD25 + regulatory T cells play an essential role in maintaining immune homeostasis and preventing autoimmunity. Therefore, defects in Treg development, maintenance or function have been associated with several human autoimmune diseases including Systemic Lupus Erythematosus (SLE), a systemic autoimmune disease characterized by loss of tolerance to nuclear components and significantly more frequent in females.
Oceanic islands have been the grand stage of documented extinctions. In view of limited resources, efficient prioritization is crucial to avoid the extinction of taxa. This work lists the top 100 management priority species for the European archipelagos of the Macaronesian region (Azores, Madeira and the Canary Islands), taking into account both their protection priority and their management feasibility. Bryophytes, vascular plants, molluscs, arthropods and vertebrates were scored by species experts following two sets of criteria: (i) protection priority, including ecological value, singularity, public institutions' management responsibilities and social value; (ii) management feasibility, including threats knowledge and control feasibility, external socio-economical support for management and biological recovery potential. Environmental managers weighted the same criteria according to their management importance. Final species scores were determined by the combination of both species valuation and criteria weighting. Vascular plants dominate the Top 100 list, followed by arthropods and vertebrates. The majority of listed taxa are endemic to one archipelago or even to a single island. The management feasibility criteria did not dictate that all taxa must be eminently endangered, as for most of the species it should be relatively easy to control threats. The main advantages of this process are the independent participation of scientists and conservation managers, the inclusion of criteria on both protection priority and management feasibility and the taxonomically unbiased nature of the process. This study provides a potentially useful biodiversity conservation tool for the Macaronesian archipelagos that could be readily implemented by the respective regional governments in future legislation.
The impact of Behçet's disease on higher cognitive functions is still poorly understood. We proposed (1) to characterize the neuropsychological profile of Behçet's disease patients with (Neuro-BD) and without (BD) neurological manifestations; (2) to identify which clinical, psychopathological, and genetic variables are related to neuropsychological performance; and (3) to explore the association between cognitive functioning and neuroimaging findings in BD patients. Fifteen Neuro-BD and 35 BD patients in the nonactive phase of their illness underwent a neurological examination, performed a comprehensive battery of neuropsychological tests, and answered the hospital anxiety and depression scale. Human leukocyte antigen (HLA)-B*51 genotyping was also performed. Patients' neuropsychological performances were compared to those of healthy demographically matched subjects. Within one month from the testing date, a subset of 20-BD patients underwent a magnetic resonance imaging (MRI) scan. Fifty-three percent of Neuro-BD and 40% of BD patients were impaired at least on one neuropsychological measure (i.e., digit span-forward). Poorer cognitive functioning in Neuro-BD was associated with parenchymal involvement, whereas in BD it was related to presence of white matter changes in the frontal lobes, history of headache complaints, or higher levels of anxiety and depression. Current prednisone intake had a positive impact on neuropsychological performance. Disease duration, time since onset of neurological manifestations, or presence of HLA-B*51 allele had no significant influence. Our results indicate that Behçet's disease may affect cognitive abilities in the absence of overt neurological symptoms. These findings point to an insidious course of neurological involvement.
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