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61.
Calliari LE Longui CA Rocha MN Faria CD Kochi C Melo MR Melo MB Monte O 《Genetics and molecular research : GMR》2007,6(2):277-283
Adrenal hypoplasia congenita (AHC) is a rare disease that can be caused by many abnormalities, including an X-linked form. Mutations in the DAX1 gene have been assigned as the genetic cause of AHC. We describe here three siblings with AHC, clinically presented at different ages, two in the neonatal period and one oligosymptomatic during infancy. Molecular analysis was able to detect a novel mutation in exon 1 of the DAX1 gene, consisting of a transition of C to T at position 359, determining a stop codon at position 359 (Q359X). The mutated gene encodes a truncated protein missing a large portion of the ligand-binding domain (C-terminal domain). The recognition of the disease in the index case suggested the diagnosis in the other siblings. Interestingly, the same mutation is presented with different phenotypes, suggesting that first-degree family members of patients with DAX1 mutations should be carefully evaluated routinely. 相似文献
62.
Eliane Soler Parra Natalia Baratella Panzoldo Vanessa Helena de Souza Zago Daniel Zanetti Scherrer Fernanda Alexandre Jamal Bakkarat Valeria Sutti Nunes Edna Regina Nakandakare Eder Carlos Rocha Quint?o Wilson Nadruz-Jr Eliana Cotta de Faria Andrei C. Sposito 《PloS one》2014,9(12)
Background
Misclassification of patients as low cardiovascular risk (LCR) remains a major concern and challenges the efficacy of traditional risk markers. Due to its strong association with cholesterol acceptor capacity, high-density lipoprotein (HDL) size has been appointed as a potential risk marker. Hence, we investigate whether HDL size improves the predictive value of HDL-cholesterol in the identification of carotid atherosclerotic burden in individuals stratified to be at LCR.Methods and Findings
284 individuals (40–75 years) classified as LCR by the current US guidelines were selected in a three-step procedure from primary care centers of the cities of Campinas and Americana, SP, Brazil. Apolipoprotein B-containing lipoproteins were precipitated by polyethylene glycol and HDL size was measured by dynamic light scattering (DLS) technique. Participants were classified in tertiles of HDL size (<7.57; 7.57–8.22; >8.22 nm). Carotid intima-media thickness (cIMT) <0.90 mm (80th percentile) was determined by high resolution ultrasonography and multivariate ordinal regression models were used to assess the association between cIMT across HDL size and levels of lipid parameters. HDL-cholesterol was not associated with cIMT. In contrast, HDL size >8.22 nm was independently associated with low cIMT in either unadjusted and adjusted models for age, gender and Homeostasis Model Assessment 2 index for insulin sensitivity, ethnicity and body mass index (Odds ratio 0.23; 95% confidence interval 0.07–0.74, p = 0.013).Conclusion
The mean HDL size estimated with DLS constitutes a better predictor for subclinical carotid atherosclerosis than the conventional measurements of plasma HDL-cholesterol in individuals classified as LCR. 相似文献63.
64.
Victor M. Victor Susana Rovira-Llopis Vanessa Saiz-Alarcon Maria C. Sangüesa Luis Rojo-Bofill Celia Ba?uls Rosa Falcón Raquel Castelló Luis Rojo Milagros Rocha Antonio Hernández-Mijares 《PloS one》2014,9(9)
Context
Anorexia nervosa is a common illness among adolescents and is characterised by oxidative stress.Objective
The effects of anorexia on mitochondrial function and redox state in leukocytes from anorexic subjects were evaluated.Design and setting
A multi-centre, cross-sectional case-control study was performed.Patients
Our study population consisted of 20 anorexic patients and 20 age-matched controls, all of which were Caucasian women.Main outcome measures
Anthropometric and metabolic parameters were evaluated in the study population. To assess whether anorexia nervosa affects mitochondrial function and redox state in leukocytes of anorexic patients, we measured mitochondrial oxygen consumption, membrane potential, reactive oxygen species production, glutathione levels, mitochondrial mass, and complex I and III activity in polymorphonuclear cells.Results
Mitochondrial function was impaired in the leukocytes of the anorexic patients. This was evident in a decrease in mitochondrial O2 consumption (P<0.05), mitochondrial membrane potential (P<0.01) and GSH levels (P<0.05), and an increase in ROS production (P<0.05) with respect to control subjects. Furthermore, a reduction of mitochondrial mass was detected in leukocytes of the anorexic patients (P<0.05), while the activity of mitochondrial complex I (P<0.001), but not that of complex III, was found to be inhibited in the same population.Conclusions
Oxidative stress is produced in the leukocytes of anorexic patients and is closely related to mitochondrial dysfunction. Our results lead us to propose that the oxidative stress that occurs in anorexia takes place at mitochondrial complex I. Future research concerning mitochondrial dysfunction and oxidative stress should aim to determine the physiological mechanism involved in this effect and the physiological impact of anorexia. 相似文献65.
Direct seeding of Brazilian savanna trees: effects of plant cover and fertilization on seedling establishment and growth 下载免费PDF全文
Raíssa R. P. Silva Daniel R. Oliveira Gustavo P. E. da Rocha Daniel L. M. Vieira 《Restoration Ecology》2015,23(4):393-401
Direct seeding is a promising technique for ecological restoration, but it has been poorly studied in neotropical savannas. Different types of plant cover (no cover, crops, or green manure) and fertilization (unfertilized, synthetic fertilizer, or poultry litter) were used to verify if survival and growth of different tree species after direct seeding could be enhanced by the use of any combination of these techniques. Seedling emergence, establishment, and growth were followed for 2 years for six savanna tree species sown in an agricultural field in Central Brazil. Germination was high (52%, on average) for Anacardium occidentale, Aspidosperma macrocarpon, Hymenaea stigonocarpa, Dipteryx alata, Eugenia dysenterica, and Magonia pubescens. Six additional species were planted, but less than 5% of these seeds germinated. Crops (60% shade) did not affect seedling survival and biomass compared with the control treatment, supporting the use of this strategy during the initial phase of restoration to involve farmers in the process. In contrast, the excessive shading (95%) from the green manure treatment decreased the survival of two species and the growth in biomass and diameter of five species, especially when combined with fertilization. Seedling growth was very slow throughout the experiment, requiring extended weed management. This study supports the use of direct seeding of the studied species for savanna restoration, but methods could be improved to include a larger number of species. 相似文献
66.
Taxonomic and functional ant diversity along a secondary successional gradient in a tropical forest 下载免费PDF全文
Maya Rocha‐Ortega Xavier Arnan José Domingos Ribeiro‐Neto Inara R. Leal Mario E. Favila Miguel Martínez‐Ramos 《Biotropica》2018,50(2):290-301
The taxonomic diversity (TD) of tropical flora and fauna tends to increase during secondary succession. This increase may be accompanied by changes in functional diversity (FD), although the relationship between TD and FD is not well understood. To explore this relationship, we examined the correlations between the TD and FD of ants and forest age in secondary forests at the α‐ and β‐diversity levels using single‐ and multi‐trait‐based approaches. Our objectives were to understand ant diversity patterns and to evaluate the role of secondary forests in the conservation of biodiversity and in the resilience of tropical forests. Ant assemblages were sampled across a chronosequence in the Lacandon region, Mexico. All species were characterized according to 12 functional ecomorphological traits relevant to their feeding behavior. We found that TD and FD were related to forest age at the alpha level, but not at the beta level. α‐functional richness and divergence increased linearly with species richness and diversity, respectively. Also, the relationship between taxonomic and functional turnover was linear and positive. Our results indicated that functional traits were complementary across the chronosequence. The increase in FD was mainly driven by the addition of rare species with relevant traits. The older secondary forests did not recover all of the functions of old growth forest but did show a tendency to recovery. Because older successional stages support more TD and FD, we suggest developing agriculture and forestry management practices that facilitate rapid post‐agricultural succession and thereby better preserve the functionality of tropical forests. 相似文献
67.
Alisson L. da Rocha Giovana R. Teixeira Ana P. Pinto Gustavo P. de Morais Luciana da C. Oliveira Larissa Gaioto de Vicente Lilian E. C. M. da Silva José R. Pauli Dennys E. Cintra Eduardo R. Ropelle Leandro P. de Moura Rania A. Mekary Ellen C. de Freitas Adelino S. R. da Silva 《Journal of cellular physiology》2018,233(11):8850-8861
68.
69.
Grazielle R. Goes Peter S. Rocha Aline R. S. Diniz Pedro H. N. Aguiar Carlos R. Machado Leda Q. Vieira 《PLoS neglected tropical diseases》2016,10(4)
Background
During Trypanosoma cruzi infection, macrophages produce reactive oxygen species (ROS) in a process called respiratory burst. Several works have aimed to elucidate the role of ROS during T. cruzi infection and the results obtained are sometimes contradictory. T. cruzi has a highly efficiently regulated antioxidant machinery to deal with the oxidative burst, but the parasite macromolecules, particularly DNA, may still suffer oxidative damage. Guanine (G) is the most vulnerable base and its oxidation results in formation of 8-oxoG, a cellular marker of oxidative stress.Methodology/Principal Findings
In order to investigate the contribution of ROS in T. cruzi survival and infection, we utilized mice deficient in the gp91phox (Phox KO) subunit of NADPH oxidase and parasites that overexpress the enzyme EcMutT (from Escherichia coli) or TcMTH (from T. cruzi), which is responsible for removing 8-oxo-dGTP from the nucleotide pool. The modified parasites presented enhanced replication inside murine inflammatory macrophages from C57BL/6 WT mice when compared with control parasites. Interestingly, when Phox KO macrophages were infected with these parasites, we observed a decreased number of all parasites when compared with macrophages from C57BL/6 WT. Scavengers for ROS also decreased parasite growth in WT macrophages. In addition, treatment of macrophages or parasites with hydrogen peroxide increased parasite replication in Phox KO mice and in vivo.Conclusions
Our results indicate a paradoxical role for ROS since modified parasites multiply better inside macrophages, but proliferation is significantly reduced when ROS is removed from the host cell. Our findings suggest that ROS can work like a signaling molecule, contributing to T. cruzi growth inside the cells. 相似文献70.
da Rocha GC Harter-Lailheugue S Le Bailly M Araújo A Ferreira LF da Serra-Freire NM Bouchet F 《Memórias do Instituto Oswaldo Cruz》2006,101(Z2):43-52
Human occupation for several centuries was recorded in the archaeological layers of "Place d'Armes", Namur, Belgium. Preventive archaeological excavations were carried out between 1996/1997 and seven historical strata were observed, from Gallo-Roman period up to Modern Times. Soil samples from cesspools, latrines, and structures-like were studied and revealed intestinal parasite eggs in the different archaeological contexts. Ascaris lumbricoides, A. suum, Trichuris trichiura, T. suis. Taenia sp., Fasciola hepatica, Diphyllobothrium sp., Capillaria sp. and Oxyuris equi eggs were found. Paleoparasitology confirmed the use of structures as latrines or cesspit as firstly supposed by the archaeologists. Medieval latrines were not only used for rejection of human excrements. The finding of Ascaris sp. and Trichuris sp. eggs may point to human's or wild swine's feces. Gallo-Roman people used to eat wild boar. Therefore, both A. suum and T. suis, or A. lumbricoides and T. trichuris, may be present, considering a swine carcass recovered into a cesspit. Careful sediment analysis may reveal its origin, although parasites of domestic animals can be found together with those of human's. Taenia sp. eggs identified in latrine samples indicate ingestion of uncooked beef with cysticercoid larvae. F. hepatica eggs suggest the ingestion of raw contaminated vegetables and Diphyllobothrium sp. eggs indicate contaminated fresh-water fish consumption. Ascaris sp. and Trichuris sp. eggs indicate fecal-oral infection by human and/or animal excrements. 相似文献