Stem cell transplantation for fanconi anemia: 20 years of progressive decrease in the dose of cyclophosphamide without irradiation

La fesomia actual és de finals del segle XVIII.Primer pla, contrapicat, d'un senzill edifici d'habitatges entre mitgeres. Consta de planta baixa, quatre plantes pis i terrat, amb un volum reculat respecte el pla de façana. S'organitza en tres eixos verticals. Combina balcons amb finestretes

Socio-ecological assessment for environmental planning in coastal fishery areas: A case study in Brazilian mangroves

Along the world's (sub) tropics mangroves are important coastal ecosystems supporting small-scale fisheries and human populations, highlighting the need to consider participatory approaches in this ecosystem management. We carried out a socio-ecological assessment to characterize the use and perceptions of local populations at Northeastern Brazil (São Francisco River Estuary) on mangrove fisheries and local development, and pointed out strategies for environmental planning. The questionnaire-based results show that the locals are economically dependent on mangrove fisheries, exploring 12 types of fish, 4 types of crabs, 3 types of mollusks and shrimps. All populations indicated a decrease in the fishery yield, mainly due to a high fishery pressure and shrimp farming. We conclude that strategies pointed out by the locals as creation of an protected area of sustainable use (Extractive Reserve), aided by government support to create a local small-scale fishery processing industry, to cultivate oysters and fish and ecotourism are sustainable alternatives for poverty alleviation and mangrove conservation. These alternatives and the socio-ecological assessment should be a guideline for other mangroves areas worldwide with similar environmental problems and where fishery is the base of economic subsistence, in order to guarantees the long term sustainability of mangrove socio-ecological systems.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

FANCD2 Western blot as a diagnostic tool for Brazilian patients with Fanconi anemia

Fanconi anemia is a rare hereditary disease showing genetic heterogeneity due to a variety of mutations in genes involved in DNA repair pathways, which may lead to different clinical manifestations. Phenotypic variability makes diagnosis difficult based only on clinical manifestations, therefore laboratory tests are necessary. New advances in molecular pathogenesis of this disease led researchers to develop a diagnostic test based on Western blot for FANCD2. The objective of the present study was to determine the efficacy of this method for the diagnosis of 84 Brazilian patients with Fanconi anemia, all of whom tested positive for the diepoxybutane test, and 98 healthy controls. The FANCD2 monoubiquitinated isoform (FANCDS+/FANCD2L-) was not detected in 77 patients (91.7%). In 2 patients (2.4%), there was an absence of both the monoubiquitinated and the non-ubiquitinated proteins (FANCD2S-/FANCD2L-) and 5 patients (5.9%) had both isoforms (FANCD2S+/FANCD2L+). This last phenotype suggests downstream subtypes or mosaicism. All controls were diepoxybutane negative and were also negative on the FANCD2 Western blot. The Western blot for FANCD2 presented a sensitivity of 94% (79/84) and specificity of 100% (98/98). This method was confirmed as an efficient approach to screen Brazilian patients with deleterious mutations on FANCD2 (FANCD2S-/FANCD2L-) or other upstream genes of the FA/BRCA pathway (FANCDS+/FANCD2L-), to confirm the chromosome breakage test and to classify patients according to the level of FA/BRCA pathway defects. However, patients showing both FANCD2 isoforms (FANCD2S+/FANCD2L+) require additional studies to confirm mutations on downstream Fanconi anemia genes or the presence of mosaicism