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Introduction: In highly multiracial populations with inadequate newborn screening, knowledge of the various phenotypic presentations of Cystic Fibrosis (CF) can help reach an early diagnosis. This study aims to describe phenotypes and genotypes at the time of CF diagnosis in a state in the Northeast Region of Brazil., Methods: Retrospective cross-sectional study. Clinical data were extracted from the medical records of CF patients. Clinical, laboratory, and genotypic characteristics were described for patients admitted to a tertiary referral center between 2007 and 2021., Results: Fifty-eight (58) patients were included in the study, 53.5% of whom were diagnosed through clinical suspicion. The median age at diagnosis was 4.7 months (IQR: 1.5-14.8 months). Five patients had false-negative results in the newborn screening. Faltering growth was the most frequent clinical manifestation. Bronchiectasis and a history of pneumonia predominated in those older than ten, while thinness, underweight, and electrolyte imbalances were more frequent in children under two. Sequencing of the CFTR gene identified 27 genotypes, with at least one class I-III variant in all patients, and nine variants that are rare, previously undescribed, or have uncertain significance (619delA, T12991, K162Q, 3195del6, 1678del > T, 124del123bp, 3121-3113 A > T). The most frequent alleles were p.Phe508del, p.Gly542*, p.Arg334Trp, and p.Ser549Arg., Conclusions: Malnutrition and electrolyte imbalances were the most frequent phenotypes for children < 2 years and were associated with genotypes including 2 class I-III variants. Rare and previously undescribed variants were identified. The p.Gly542*, p.Arg334Trp, and p.Ser549Arg alleles were among the most frequent variants in this population., (© 2024. The Author(s).)

During the colonial period in South America, many autochthonous populations were affected by relocation by European missionary reductions and other factors that impacted and reconfigured their genetic makeup. Presently, the descendants of some "reduced" and other isolated groups are distributed in the Amazonian areas of Peru, Bolivia, and Brazil, and among them, speakers of Takanan and Panoan languages. Based on linguistics, these peoples should be closely related, but so far no DNA comparison studies have been conducted to corroborate a genetic relationship. To clarify these questions, we used a set of 15 short tandem repeats of the non-recombining part of the Y-chromosome (Y-STRs) and mitochondrial DNA (mtDNA) control region sequence data. Paternal line comparisons showed the Takanan-speaking peoples from Peru and Bolivia descended from recent common ancestors; one group was related to Arawakan, Jivaroan, and Cocama and the other to Panoan speakers, consistent with linguistics. Also, a genetic affinity for maternal lines was observed between some Takanan speakers and individuals who spoke different Amazonian languages. Our results supported a shared ancestry of Takanan, Panoan, Cocama, and Jivaroan-speaking communities who appeared to be related to each other and came likely from an early Arawak expansion in the western Amazonia of South America., (© 2023 The Authors. Annals of Human Genetics published by University College London (UCL) and John Wiley & Sons Ltd.)

The Ocean decade (2021-2030) for sustainable development proclaimed in 2017 by the UN, seeks to promote and conserve the sustainable use of oceans, seas, and marine resources. For this, the distribution of n-alkanes, polycyclic aromatic hydrocarbons (PAHs), and biomarkers, in sediments from the Fortaleza coastal zone (Mucuripe harbor (MH) and Inner Continental shelf (ICS)) were used to assess the impacts of anthropogenic activities in the area. The concentrations of total n-alkanes (Σ16 n-alkanes) in MH and ICS sediments varied from 35.9 to 94.9 and 17.9 to 197.3 μg g -1 , respectively, while the isoprenoids phytane and pristane in MH and ICS sediments ranged from 0.1 to 1.69 ug g -1 and from 0.14 and 1.20 μg g -1 , respectively. Most of the sediment samples presented carbon preference index (CPI) values close to unity, indicating that the area is submitted to petroleum-related sources. The concentrations of Σ16 PAHs in MH and ICS sediments varied from 87.0 to 562.0 and 98 to 288.0 ng g -1 . This work presents the first investigation of the petroleum biomarkers hopanes and steranes in the Fortaleza coastal zone, in which ΣBiomarkers varied from 0.10 to 1.79 and 0.02 to 0.24 ug g -1 in MH and ICS sediments, respectively. The presence at stations of biomarkers also indicates petrogenic input. The diagnosis of the distribution of pollutants in the investigated zones of the Fortaleza coast suggests contamination from urban areas and oil spills and vessel traffic., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Sterols and endocrine-disrupting chemicals were analyzed in two dated sediment cores collected in the Jaguaribe river to determine the recent decades' influence of urbanization and agropastoral activities on the inputs of fecal pollution in a semi-arid region of Brazil. Stigmasterol and sitosterol were the most abundant of the 6 sterols examined in both cores, indicating an important contribution of organic matter from mangrove forests to the study region. Coprostanol presented a continuous increase in concentrations from the 1930s to the 2000s in one core, however, showing higher concentrations (>100 ng g -1 ) in the upper layers of both cores. The sterols diagnostic ratios indicated fecal pollution through both cores, especially from the 1940s to 1970s. The coprostanol levels followed the variations in population growth in the state of Ceará. Estriol and estrone were the most abundant estrogenic hormones found in both cores. These compounds are probably related to the intense livestock activities in the Ceará state, especially after the 1970s. The baseline levels of fecal sterols and estrogen hormones found in this study possibly represent a previous unimpacted scenario and may be used for future evaluations of fecal pollution from urbanization and livestock activities., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2022. Published by Elsevier B.V.)

The Jundiaí-Potengi Estuary (EJP) is located on the semi-arid coast of northeastern Brazil and is influenced by multiple sources of contamination. The sediment quality of EJP was assessed by using a multi-geochemical approach during the dry and wet seasons. Sediments were analyzed for concentrations of nutrients, metals, polycyclic aromatic hydrocarbons (PAHs), pesticides, hormones (natural and synthetic), and sterols. The results were integrated by multivariate methods. The sediment was altered by the presence of contaminants from anthropogenic and natural sources. The middle and lower estuarine areas were considered more degraded in both seasons. In these regions, metals, hormones, sterols, and PAHs were found, indicating that these regions are severely affected by industrial, sanitary and aquaculture effluents, combustion of fossil fuels, and oil spills. The upstream region was contaminated by pesticides. The contamination pattern along the EJP shows the prevalence of local sources which continuously release the chemicals into the estuary. Worse conditions occurred during the rainy season, when the runoff from urban and rural areas is more intense and carries a greater load of contaminants to the EJP., (© 2022. The Author(s), under exclusive licence to Springer Nature Switzerland AG.)

Aims: The present study aimed to develop and evaluate a new dairy by-product nutritional supplement with Buriti fruit to improve malnutrition in mice and elderly woman., Background: Malnutrition is a prevalent problem in the elderly; therefore, oral dietary supplementation is an important strategy to reduce this health problem incidence., Objective: The present study evaluated the effects of a low-cost food supplement, made from byproducts of the dairy and fruit industry in the Brazilian Cerrado (Buriti), on the nutritional status and on the recovery of the metabolic profile of malnourished animals and elderly women., Methods: In the pre-clinical phase, Swiss mice were divided into six groups and subjected to malnutrition and renutrition. The clinical phase was carried out with 25 elderly women residing in a long-term institution, aged ≥ 65 years and with malnutrition or risk of malnutrition., Results: The main results showed improvements in anthropometric parameters and an increase in serum albumin levels, in addition to lipid profile improvement in the preclinical phase and an increase in the red blood cells and hemoglobin in the clinical phase., Conclusion: The supplement based on Buriti was able to reverse malnutrition promoting improvements in anthropometric and biochemical parameters., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Polycyclic aromatic hydrocarbon (PAH) concentrations were determined in four dated sediment cores collected in mud depocenters of the southern Brazilian continental shelf. Core dating results covered the interval between 1925 and 2017. The total PAH concentrations (ΣPAHs) ranged from 44.69 ng g -1 to 305.43 ng g -1 and were similar between the analysed cores. Fine-grained sediments and total organic carbon (TOC) results did not correlate with the ΣPAHs, indicating that the variations in PAH concentrations are mostly related to variations in sources and emissions. PAH source appointment indicated a high input of a natural compound (perylene) and the predominance of anthropogenic PAHs from coal, biomass, and fuel combustion. Alkylated PAHs presented high contributions throughout all cores. The historical deposition of PAHs was associated with different periods of the socio-economic and industrial development of near coastal cities and reflected very well the history of coal production and consumption in the southern region of Brazil. The low levels of ΣPAHs before 1945 in all analysed cores may be related to the beginning of the industrialization process and the lower urbanization degree in the region. Between 1945 and 1965, the gradual ΣPAHs increase reflects the establishment and enlargement of the southern Brazilian industrial sector. The interval between 1965 and 1990 corresponded to the highest ΣPAHs in three of the four analysed cores. After 1990, a relative decrease in the ΣPAHs was observed in most cores and may be related the multiple cuts of incentives to the industrial usage of coal, as well as to Brazil's efforts in environmental regulation for coal extraction and consumption., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Background: Brazilian flora is rich in plants with medicinal properties, which though popular, has contributed to the development of a range of phytotherapic products that use plants to treat and cure diseases. However, studies that use Brazilian plants in the treatment of metabolic disorders are still scarce in the literature., Objective: The aim of this study was to analyze the effect of hepatotoxicity Lafoensia pacari on the metabolism of mice with obesity induced by a high-fat diet and to verify the phytochemical difference between the Lafoensia pacari bark of the trunk, leaves, and branches., Methods: The plant material was collected from April to May in the municipality of Bonito de Minas, MG, Brazil. Qualitative tests for the presence of secondary metabolite classes were performed for leaves, branches and bark of the trunk. Through histological analysis, we evaluated hepatocytes and cell lesions in the liver., Results: The comparative phytochemical analysis of the plant did not reveal alterations between the different plant parts. The phytochemical test showed that is preferable to use the leaves to make the extract to be applied, aiming to reduce the plant aggression. After treatment, greater changes were observed in the animals that received the high-fat diet and the hydroethanolic extract; the levels of AST, ALT, albumin and creatinine that were increased, thus demonstrating a possible toxicity. There were no significant differences in body weight. In the histological analysis, the animals without plant treatment displayed decreased liver weight and reduction in the inflammatory infiltrate., Conclusion: We conclude that Lafoensia pacari should be better evaluated for oral consumption and may cause liver damage., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

We review studies from our laboratories using different molecular tools to characterize the Amerindian, European and African ancestry of Brazilians. Initially we used uniparental DNA markers to investigate the contribution of distinct Y chromosome and mitochondrial DNA lineages to present-day populations. High levels of genetic admixture and strong directional mating between European males and Amerindian and African females were unraveled. We next analyzed different types of biparental autosomal polymorphisms. Especially useful was a set of 40 insertion-deletion polymorphisms (indels) that when studied worldwide proved exquisitely sensitive in discriminating between Amerindians, Europeans and Sub-Saharan Africans. When applied to the study of Brazilians these markers confirmed extensive genomic admixture. We then studied ancestry differences in different regions by statistically controlling them to eliminate color considerations. The European ancestry was predominant in all regions studied, with proportions ranging from 60.6% in the Northeast to 77.7% in the South. We propose that the immigration of 6 million Europeans to Brazil in the 19th and 20th centuries is in large part responsible for dissipating previous ancestry dissimilarities that reflected region-specific population histories. Brazilians should be assessed individually, as 210 million human beings, and not as members of specific regions or color groups., (© 2020 Wiley Periodicals LLC.)

An extremely high incidence of hybridization among sea turtles is found along the Brazilian coast. This atypical phenomenon and its impact on sea turtle conservation can be elucidated through research focused on the evolutionary history of sea turtles. We assessed high-quality multilocus haplotypes of 143 samples of the 5 species of sea turtles that occur along the Brazilian coast to investigate the hybridization process and the population structure of hawksbill (Eretmochelys imbricata) and loggerhead turtles (Caretta caretta). The multilocus data were initially used to characterize interspecific hybrids. Introgression (F2 hybrids) was only confirmed in hatchlings of F1 hybrid females (hawksbill × loggerhead), indicating that introgression was either previously overestimated and F2 hybrids may not survive to adulthood, or the first-generation hybrid females nesting in Brazil were born as recent as few decades ago. Phylogenetic analyses using nuclear markers recovered the mtDNA-based Indo-Pacific and Atlantic lineages for hawksbill turtles, demonstrating a deep genetic divergence dating from the early Pliocene. In addition, loggerhead turtles that share a common feeding area and belong to distinct Indo-Pacific and Atlantic mtDNA clades present no clear genetic differentiation at the nuclear level. Finally, our results indicate that hawksbill and loggerhead rookeries along the Brazilian coast are likely connected by male-mediated gene flow., (© The American Genetic Association 2020. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Hybridization between sea turtle species occurs with particularly high frequency at two adjacent nesting areas in northeastern Brazil. To understand the outcomes of hybridization and their consequences for sea turtle conservation, we need to evaluate the extent of hybridization occurrence and possible deleterious effects in the hybrid progeny. Thus, we investigated the hypothesis of the existence of a new hybrid spot offshore of Brazil's northeastern coast. The Abrolhos Archipelago is surrounded by the largest and richest coral reefs in the South Atlantic and is known to be a nesting site for loggerhead turtles (Caretta caretta). In this study, we performed a multidisciplinary investigation into levels of hybridization in sea turtles and their reproductive output in the Abrolhos beaches. Genetic data from mitochondrial DNA (mtDNA) and six autosomal markers showed that there are first-generation hybrid females nesting in Abrolhos, resulting from crossings between hawksbill males (Eretmochelys imbricata) and loggerhead females, and backcrossed hatchlings from both parental species. The type and extent of hybridization were characterized using genomic data obtained with the 3RAD method, which confirmed backcrossing between F1 hybrids and loggerhead turtles. The reproductive output data of Abrolhos nests suggests a disadvantage of hybrids when compared to loggerheads. For the first time, we have shown the association between hybridization and low reproductive success, which may represent a threat to sea turtle conservation.

The Brazilian Atlantic Forest harbors high levels of anuran diversity and endemism, including several taxa restricted to small geographic ranges. Here, we provide a multilocus phylogeny for Paratelmatobiinae, a leptodactylid subfamily composed of small-ranged species distributed in the Brazilian Atlantic Forest and in the campo rupestre ecosystem. We performed Bayesian inference and maximum likelihood analyses using three mitochondrial and five nuclear markers, and a matrix comprising a broad taxonomic sampling. We then delimitated independently evolving lineages within the group. We recovered Paratelmatobiinae and each of its four genera as monophyletic and robustly supported. Five putatively new species included in our analyses were unambiguously supported in the phylogenetic trees and delimitation analyses. We also recovered other deeply divergent and geographically structured lineages within the four genera of Paratelmatobiinae. Our estimation of divergence times indicates that diversification in the subfamily began in the Eocene and continued until the Pleistocene. We discuss possible scenarios of diversification for the four genera of Paratelmatobiinae, and outline the implications of our findings for taxonomy and conservation., (Copyright © 2020 Elsevier Inc. All rights reserved.)

18 polycyclic aromatic hydrocarbons (PAHs) were evaluated in the Jaguaribe River to explore the influence of grain size, organic carbon, humic and fulvic acids and black carbon on their adsorption onto sediment. The ∑PAHs concentrations variated from 0.6 to 3752.0 ng g -1 with highest concentrations in the estuarine zone. The PAHs predominant source along the river was from mixed sources, mainly related to biomass combustion, small oil spills related to recreational nautical activities and runoff from cities. Organic and inorganic parameters presented influence on PAHs distribution along the river, with humic acid as a determinant factor. These research findings are of importance to an assessment of the fate and transport of PAHs in estuarine systems., (Copyright © 2019. Published by Elsevier Ltd.)

The West Indian (Trichechus manatus) and Amazonian (T. inunguis) manatees have a sympatric occurrence at the mouth of the Amazon River. A result of this interspecific encounter is the occurrence of hybrids, which are frequently found along the coasts of Amapá state in Brazil, French Guiana and Guyana. Here we present new genetic evidence indicating the occurrence of a hybrid swarm along the Guianas Shield coastline, which is an interspecific hybrid zone that also separates T. manatus populations located east (Brazil) and west (Caribbean, Gulf of Mexico, Florida and Antilles). In addition, we suggest that this hybrid population occupies a peculiar mangrove-rich environment under strong influence of the Amazon River plume, which requires an independent management and should be considered a special conservation area.

Background: Shoulder pain is reported to be one of the major challenges faced in the functional recovery of patients in rehabilitation following a stroke. In such cases, transcranial direct current stimulation (tDCS) has been used as an additional therapeutic tool for improvements in central and peripheral pain. The aim of the proposed study is to evaluate the effect of tDCS when combined with upper limb physical therapy on pain intensity and functional improvement in stroke survivors with shoulder pain in the hemiplegic limb., Methods: A randomized, placebo-controlled, double-blind, clinical trial is proposed. The volunteers will be randomly allocated to receive passive movement on the upper limb, which will be performed by the therapist for 20 min followed by either active tDCS or sham tDCS (current stimulation for 30 s) during simultaneous physical activity of the upper limb ("mini-bike") for 20 min, totaling 40 min of intervention performed in 10 consecutive sessions. The anode electrode will be positioned over the primary motor cortex with a current of 2 mA and the cathode electrode will be positioned in the supraorbital region contralateral to the anode. The primary outcome will be shoulder pain intensity, which will be measured using the visual analog scale (VAS) on three occasions: 1) pre-intervention; 2) after 10 interventions (5 weekly sessions, for 2 weeks); and 3) 30 days after the end of the interventions. The secondary outcomes will be motor performance, upper limb function, and quality of life., Trial Registration: Brazilian Registry of Clinical Trials, RBR-8F5MNY . Registered on June 2, 2017.

Anthropogenic molecular markers were used to assess chemicals inputs and ecological risks associated from multiple sources to sediments in one of the largest tropical mangrove forests of South America, with a particular focus on lesser studied compounds resulting from rural activities. Total concentrations ranged from 23.4 to 228.2 ng g -1 for polycyclic aromatic hydrocarbons (∑ PAHs ), 750.4 to 5912.5 ng g -1 for aliphatic hydrocarbons (∑ AHs ), 32.4 to 696.6 ng g -1 for pesticides (∑ pesticides ), 23.1 to 2109.7 ng g -1 for coprostanol and sterols (∑ sterols ), 139.3 to 580.2 ng g -1 for naturals hormones (∑ natural hormones ) and 334.1 to 823.4 ng g -1 for synthetics hormones (∑ synthetic hormones ). The PAHs and AHs used as traditional anthropogenic markers showed a mixture between natural and anthropogenic sources, related mainly to inputs from higher plants, phytoplankton and both, biomass and petroleum combustion. Rural activities linked to agricultural pest control are the predominant source of pesticides, although minor inputs from pesticides used in urban public health campaigns and household activities were also detected. Synthetic hormones levels are two to three orders of magnitude greater than natural hormones levels and no correlations were observed between the main sewage markers and synthetic hormone concentrations, rural activities such as animal husbandry, which use drugs in management, may be the predominant anthropogenic sources of these compounds in the region. Traditional markers failed to detect ecological risks in rural areas, where synthetic substances (e.g. pesticides and hormones) are widely used and introduced in the environment., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Even though Brazil is the world leader in amphibian diversity, a significant part of its richness remains unknown or hidden under cryptic taxa. Here, we used model-based species delimitation in an integrative taxonomic approach, by gathering molecular and morphometric data to assess cryptic taxa within the monkey frogs Pithecopus rohdei, from the Atlantic Forest, and P. megacephalus, from campos rupestres ecosystem. We sampled one mitochondrial, five nuclear loci, and 18 morphometric variables. Using species-delimitation methods with genetic and morphometric data, we recovered five divergent lineages within P. rohdei and no cryptic lineages were recovered for P. megacephalus. Morphometric data show differentiation only for one of the candidate species revealed by the delimitation approaches, suggesting that individuals from Doce River basin constitute a putative species for formal taxonomic description. The time-calibrated mtDNA tree shows that P. rohdei complex lineages began to diverge in late Miocene. However, dates from the multilocus species tree are more recent, occurring in Pleistocene, and suggesting their persistence in refuges of forest and sky islands within the Atlantic Forest biome. The existence of cryptic taxa within P. rohdei is, therefore, relevant for planning conservation strategies for this species complex in the Atlantic Forest biodiversity hotspot., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Molecular markers are useful tools to characterize natural and anthropogenic impacts on coastal zones. Distribution of n-alkanes showed that the Pacoti River was predominantly influenced by terrigenous input. Distribution of polycyclic aromatic hydrocarbon (PAH) indices showed a mix of natural sources, especially pyrogenic influences. Sterol and hormone levels showed sewage discharge. Integrated geographic assessment showed that pyrogenic process and sewage discharge are predominant along the river because of natural and different anthropogenic activities. The upstream region is influenced by rural activities such as livestock and discharge from the sewage treatment plant, whereas the estuarine region is influenced by urban and industrial activities, predominantly the discharge of treated or untreated sewage, vehicle traffic, and manufacture of red ceramics. On the other hand, on the river mouth, there is the predominance of aquaculture activities. Traditional anthropogenic markers are not sufficient for producing a comprehensive assessment of anthropogenic impacts in areas with multiple activities., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

This work describes the development of an analytical protocol combining cleanup by liquid-solid extraction and GC-MS for the determination of emerging and traditional multi-molecular markers. The procedure was used for the environmental assessment of a coastal region with multiple human activities. Global recovery rates ranged from 45.49% to 119.4% for the 46 substances analyzed: pesticides (73.7%-97.7%), PAHs (52.5%-93.7%), sterols (66.7%-119.4%) and natural and synthetic hormones (45.5%-119.1%) and the rates were compared to those reported in studies on both individual classes and multi-classes of contaminants. The analytical protocol demonstrated satisfactory efficiency and could be used successfully in environmental assessments and source assignment studies. The environmental assessment study revealed that the Acaraú River in northeastern Brazil is influenced by the combination of urban and rural activities. The sources of PAHs are vehicular traffic and the burning of biomass; pesticides stem from pest control in agribusiness and public health campaigns; sterols and hormones stem from a combination of natural inputs, human sewage (treated and raw) and animal husbandry activities.

In this study, we verified the power of DNA barcodes to discriminate Neotropical birds using Bayesian tree reconstructions of a total of 7404 COI sequences from 1521 species, including 55 Brazilian species with no previous barcode data. We found that 10.4% of species were nonmonophyletic, most likely due to inaccurate taxonomy, incomplete lineage sorting or hybridization. At least 0.5% of the sequences (2.5% of the sampled species) retrieved from GenBank were associated with database errors (poor-quality sequences, NuMTs, misidentification or unnoticed hybridization). Paraphyletic species (5.8% of the total) can be related to rapid speciation events leading to nonreciprocal monophyly between recently diverged sister species, or to absence of synapomorphies in the small COI region analysed. We also performed two series of genetic distance calculations under the K2P model for intraspecific and interspecific comparisons: the first included all COI sequences, and the second included only monophyletic taxa observed in the Bayesian trees. As expected, the mean and median pairwise distances were smaller for intraspecific than for interspecific comparisons. However, there was no precise 'barcode gap', which was shown to be larger in the monophyletic taxon data set than for the data from all species, as expected. Our results indicated that although database errors may explain some of the difficulties in the species discrimination of Neotropical birds, distance-based barcode assignment may also be compromised because of the high diversity of bird species and more complex speciation events in the Neotropics., (© 2014 John Wiley & Sons Ltd.)

This work tested whether or not populations of Bombus brasiliensis isolated on mountain tops of southeastern Brazil belonged to the same species as populations widespread in lowland areas in the Atlantic coast and westward along the Paraná-river valley. Phylogeographic and population genetic analyses showed that those populations were all conspecific. However, they revealed a previously unrecognized, apparently rare, and potentially endangered species in one of the most threatened biodiversity hotspots of the World, the Brazilian Atlantic Forest. This species is described here as Bombus bahiensis sp. n., and included in a revised key for the identification of the bumblebee species known to occur in Brazil. Phylogenetic analyses based on two mtDNA markers suggest this new species to be sister to B. brasiliensis, from which its workers and queens can be easily distinguished by the lack of a yellow hair-band on the first metasomal tergum. The results presented here are consistent with the hypothesis that B. bahiensis sp. n. may have originated from an ancestral population isolated in an evergreen-forest refuge (the so-called Bahia refuge) during cold, dry periods of the Pleistocene. This refuge is also known as an important area of endemism for several animal taxa, including other bees. Secondary contact between B. bahiensis and B. brasiliensis may be presently prevented by a strip of semi-deciduous forest in a climate zone characterized by relatively long dry seasons. Considering the relatively limited range of this new species and the current anthropic pressure on its environment, attention should be given to its conservation status.

The Brazilian Caatinga is part of the seasonally dry tropical forests, a vegetation type disjunctly distributed throughout the Neotropics. It has been suggested that during Pleistocene glacial periods, these dry forests had a continuous distribution, so that these climatic shifts may have acted as important driving forces of the Caatinga biota diversification. To address how these events affected the distribution of a dry forest species, we chose Sicarius cariri, a spider endemic to the Caatinga, as a model. We studied the phylogeography of one mitochondrial and one nuclear gene and reconstructed the paleodistribution of the species using modelling algorithms. We found two allopatric and deeply divergent clades within S. cariri, suggesting that this species as currently recognized might consist of more than one independently evolving lineage. Sicarius cariri populations are highly structured, with low haplotype sharing among localities, high fixation index and isolation by distance. Models of paleodistribution, Bayesian reconstructions and coalescent simulations suggest that this species experienced a reduction in its population size during glacial periods, rather than the expansion expected by previous hypotheses on the paleodistribution of dry forest taxa. In addition to that, major splits of intraspecific lineages of S. cariri took place in the Pliocene. Taken together, these results indicate S. cariri has a complex diversification history dating back to the Tertiary, suggesting the history of dry forest taxa may be significantly older than previously thought., (© 2014 John Wiley & Sons Ltd.)

Studies have shown that children and adolescents with low back pain are also similarly affected when they reach adulthood, thus highlighting the importance of investigating causes of low back pain in school-age children. The study examined low back pain and associated factors in 770 schoolchildren 7 to 17 years of age in a private school in Porto Alegre, Rio Grande do Sul State, Brazil. Low back pain was defined as pain or discomfort in the lumbar region in the previous month, assessed by a questionnaire. Low back pain was found in 31.6% of the subjects and was more prevalent in girls (41.9%) than boys (21.4%). Factors associated with lumbar pain were female gender, age 9 to 17 years, hyperactivity (borderline and abnormal categories), and emotional symptoms (abnormal category). Mapping the occurrence of low back pain and associated factors is important for identifying children and adolescents at risk and for developing effective programs for primary prevention.

Background: Transplant recipients are expected to adhere to a lifelong immunosuppressant therapeutic regimen. However, nonadherence to treatment is an underestimated problem for which no properly validated measurement tool is available for Portuguese-speaking patients. We aimed to initially validate the Basel Assessment of Adherence to Immunosuppressive Medications Scale (BAASIS®) to accurately estimate immunosuppressant nonadherence in Brazilian transplant patients., Methods: The BAASIS® (English version) was transculturally adapted and its psychometric properties were assessed. The transcultural adaptation was performed using the Guillemin protocol. Psychometric testing included reliability (intraobserver and interobserver reproducibility, agreement, Kappa coefficient, and the Cronbach's alpha) and validity (content, criterion, and construct validities)., Results: The final version of the transculturally adapted BAASIS® was pretested, and no difficulties in understanding its content were found. The intraobserver and interobserver reproducibility variances (0.007 and 0.003, respectively), the Cronbach's alpha (0.7), Kappa coefficient (0.88) and the agreement (95.2%) suggest accuracy, preciseness and reliability. For construct validity, exploratory factorial analysis demonstrated unidimensionality of the first three questions (r = 0.76, r = 0.80, and r = 0.68). For criterion validity, the adapted BAASIS® was correlated with another self-report instrument, the Measure of Adherence to Treatment, and showed good congruence (r = 0.65)., Conclusions: The BAASIS® has adequate psychometric properties and may be employed in advance to measure adherence to posttransplant immunosuppressant treatments. This instrument will be the first one validated to use in this specific transplant population and in the Portuguese language.

Eufriesea zhangi Nemésio & Santos Júnior sp. n. is described from the 'Parque Nacional de Ubajara', state of Ceará, northeastern Brazil. This orchid-bee species is superficially similar to the blackish species belonging to the Eufriesea mussitans (Fabricius, 1787) species-group. Molecular and morphological (both external and genital) characters were used to demonstrate that Eufriesea zhangi sp. n. is distinct from morphologically similar Eufriesea nordestina (Moure, 1999) and Eufriesea auriceps (Friese, 1899). Molecular data vaguely suggested that its closest relative is Eufriesea nigrohirta (Friese, 1899). This new species, as well as the recently described Eulaema quadragintanovem Nemésio & Ferrari, 2012, seems to be geographically restricted to 'brejos de altitude'-Atlantic Forest physiognomies at the top of mountains in northeastern Brazil-in the state of Ceará. Due to their conspicuous isolation, these areas appear to be a rich source of unknown species that may rapidly vanish due to environmental disturbances.

Southeast Brazil is a neotropical region composed of a mosaic of different tropical habitats and mountain chains, which allowed for the formation of bird-rich communities with distinct ecological niches. Although this region has the potential to harbor a remarkable variety of avian parasites, there is a lack of information about the diversity of malarial parasites. We used molecular approaches to characterize the lineage diversity of Plasmodium and Haemoproteus in bird communities from three different habitats in southeast Brazil based on the prevalence, richness and composition of lineages. We observed an overall prevalence of 35.3%, with a local prevalence ranging from 17.2% to 54.8%. Moreover, no significant association between prevalence and habitat type could be verified (p>0.05). We identified 89 Plasmodium and 22 Haemoproteus lineages, with 86% of them described for the first time here, including an unusual infection of a non-columbiform host by a Haemoproteus (Haemoproteus) parasite. The composition analyses of the parasite communities showed that the lineage composition from Brazilian savannah and tropical dry forest was similar, but it was different from the lineage composition of Atlantic rainforest, reflecting the greater likeness of the former habitats with respect to seasonality and forest density. No significant effects of habitat type on lineage richness were observed based on GLM analyses. We also found that sites whose samples had a greater diversity of bird species showed a greater diversity of parasite lineages, providing evidence that areas with high bird richness also have high parasite richness. Our findings point to the importance of the neotropical region (southeast Brazil) as a major reservoir of new haemosporidian lineages.

Surprisingly, a high frequency of interspecific sea turtle hybrids has been previously recorded in a nesting site along a short stretch of the Brazilian coast. Mitochondrial DNA data indicated that as much as 43% of the females identified as Eretmochelys imbricata are hybrids in this area (Bahia State of Brazil). It is a remarkable find, because most of the nesting sites surveyed worldwide, including some in northern Brazil, presents no hybrids, and rare Caribbean sites present no more than 2% of hybrids. Thus, a detailed understanding of the hybridization process is needed to evaluate natural or anthropogenic causes of this regional phenomenon in Brazil, which could be an important factor affecting the conservation of this population. We analysed a set of 12 nuclear markers to investigate the pattern of hybridization involving three species of sea turtles: hawksbill (E. imbricata), loggerhead (Caretta caretta) and olive ridley (Lepidochelys olivacea). Our data indicate that most of the individuals in the crossings L. olivacea × E. imbricata and L. olivacea × C. caretta are F1 hybrids, whereas C. caretta × E. imbricata crossings present F1 and backcrosses with both parental species. In addition, the C. caretta × E. imbricata hybridization seems to be gender and species biased, and we also found one individual with evidence of multispecies hybridization among C. caretta × E. imbricata × Chelonia mydas. The overall results also indicate that hybridization in this area is a recent phenomenon, spanning at least two generations or ~40 years., (© 2012 Blackwell Publishing Ltd.)

Posture assessment during childhood and adolescence allows early detection of postural disorders and adoption of preventive measures. This study evaluated the occurrence of lumbar hyperlordosis and associated factors in 467 children and adolescents aged 10 to 16 years at a school in Porto Alegre, Rio Grande do Sul State, Brazil. Lumbar hyperlordosis was defined as increased lumbar curvature evaluated by photography. Prevalence of lumbar hyperlordosis was 78%. Factors positively associated with lumbar hyperlordosis were female gender (PR = 1.08; 95%CI: 1.03; 1.13), abdominal strength below the 20th percentile (PR = 1.10; 95%CI: 1.05; 1.15), and flexibility below the 20th percentile (PR = 1.07; 95%CI: 1.01; 1.12). Lumbar hyperlordois was negatively associated with lumbar mobility (PR = 0.90; 95%CI: 0.85; 0.96) and height (PR = 0.995; 95%CI: 0.99; 0.999). Effective strategies to improve physical fitness in schoolchildren are necessary, because low abdominal strength and low flexibility were associated with lumbar hyperlordosis.

Introduction: The number of patients on peritoneal dialysis (PD) in Brazil is significant, with a higher prevalence of diabetic and elderly individuals on PD than on hemodialysis. These data point to a selection bias in that population., Objective: To assess the quality of life (QOL) of patients starting PD in Brazil., Methods: The study assessed 6,198 patients participating in a multicenter prospective cohort study, using data from BRAZPD. The QOL was assessed by use of the Karnofsky index (QOL assessment by health professionals) and the SF-36 (patient's self-assessment) in 1,624 incident patients., Results: Of the patients analyzed, 40% were diabetic and 47% were elderly (over the age of 60 years). Patients had low QOL scores in all the SF-36 domains, the "physical role" domain being the most affected and the "social functioning" domain having the best score. On the other hand, according to the Karnofsky index, most patients had high QOL scores. Elderly and diabetic patients had lower QOL as compared with non-elderly and non-diabetic by using both the SF-36 and Karnofsky index., Conclusion: The overall evaluation by use of the SF-36 showed a reduction in the QOL. The Karnofsky index showed a better QOL as compared with the SF-36 assessment, but similar results were found in the subgroups evaluated: the ederly and the diabetic patients had the worst QOL in both assessments.

The genus Chromobacterium encompasses free-living Gram-negative bacteria. Until 2007, the genus consisted of only one species but six species are now recognized. Chromobacterium violaceum is the type species of the genus and is commonly found in soil and water in tropical and sub-tropical regions. We have investigated a collection of 111 isolates displaying violet pigmentation from undisturbed aquatic and soil environments from Brazilian Cerrado ecosystem. The 16S rRNA gene phylogeny revealed that all isolates were allocated in a monophyletic cluster inside the Chromobacterium genus and formed few clusters related most closely with Chromobacterium piscinae. The two sets of isolates from water and soil were analyzed by the repetitive extragenic palindromic (rep)-PCR genomic fingerprinting technique using a BOX-AR1 primer. The antimicrobial susceptibility and the different carbon sources utilized by these isolates were also investigated. Physiological profiles of the isolates generated by BIOLOG GN2 plates showed great versatility in the substrate utilization, much higher than the C. violaceum ATCC 12472. All isolates exhibited a high minimum inhibitory concentration (MIC) to ampicillin (MIC > 512 μg/ml) and were inhibited by ciprofloxacin, tetracycline and mercury at the lowest concentration tested (MIC < 2 μg/ml). Thirteen BOX-PCR band patterns were identified from 33 individual fingerprints. Eleven patterns provided evidence for endemic distributions. Antimicrobial susceptibility and BOX-PCR fingerprint clustering showed a clear distinction between Chromobacterium isolates from the water and soil. The results suggested that microenvironment barriers such as water and soil can play an important role in the periodic selection and diversification of Chromobacterium population ecotypes.

We studied the intraspecific evolutionary history of the South American Atlantic forest endemic Xiphorhynchusfuscus (Aves: Dendrocolaptidae) to address questions such as: Was the diversification of this bird's populations associated to areas of avian endemism? Which models of speciation (i.e., refuges, river as barriers or geotectonism) explain the diversification within X. fuscus? Does the genetic data support subspecies as independent evolutionary units (species)? We used mitochondrial (n=34) and nuclear (n=68) DNA sequences of X. fuscus to study temporal and spatial relationships within and between populations. We described four main monophyletic lineages that diverged during the Pleistocene. The subspecies taxonomy did not match all the evolutionary lineages; subspecies atlanticus was the only one that represented a monophyletic and isolated lineage. The distribution of these lineages coincided with some areas of endemism for passerines, suggesting that those areas could be regions of biotic differentiation. The ancestor of X. fuscus diverged approximately 3 million years ago from Amazonian taxa and the phylogeographic pattern suggested that X. fuscus radiated from northeastern Brazil. Neither the riverine nor the geotectonic vicariance models are supported as the primary cause for diversification of geographic lineages, but rainforest contractions and expansions (ecological vicariance) can explain most of the spatial divergence observed in this species. Finally, analyses of gene flow and divergence time estimates suggest that the endangered subspecies atlanticus (from northeastern Brazil) can be considered a full species under the general lineage species concept.

The increasing problems with multidrug resistance in relation to Corynebacterium, including C. diphtheriae, are examples of challenges confronting many countries. For this reason, Brazilian C. diphtheriae strains were evaluated by the E-Test for their susceptibility to nine antibacterial drugs used in therapy. Resistance (MIC < 0.002; 0.38 microg/ml) to penicillin G was found in 14.8% of the strains tested. Although erythromycin (MIC90 0.75 microg/ml) and azithromycin (MIC90 0.064 microg/ml) were active against C. diphtheriae in this study, 4.2% of the strains showed decreased susceptibility (MIC 1.0 microg/ml) to erythromycin. Multiple resistance profiles were determined by the disk diffusion method using 31 antibiotics. Most C. diphtheriae strains (95.74%) showed resistance to mupirocin, aztreonam, ceftazidime, and/or oxacillin, ampicillin, penicillin, tetracycline, clindamycin, lincomycin, and erythromycin. This study presents the antimicrobial susceptibility profiles of Brazilian C. diphtheriae isolates. The data are of value to practitioners, and suggest that some concern exists regarding the use of penicillin.

Purpose: To determine prevalence and causes of visual impairment, blindness, ocular disorders and cataract surgery outcomes in a low-income elderly population from a metropolitan area in the city of São Paulo, Brazil., Methods: Observational study where 801 individuals of 60 years and older underwent presented and best corrected visual acuity measurements as well as ophthalmologic examination. Definition of blindness and visual impairment followed studies conducted in Nepal, China and India., Results: The prevalence of presented and best-corrected visual acuity worse than 20/400 in both eyes was 1.38% (95% CI: 0.69% - 2.45%) and 1.25% (95% CI: 0.60% - 2.29%). Prevalence of visual impairment considering presented and best-corrected visual acuity was, respectively, 24.16% (95% CI: 21.22% - 27.28%) and 12.77% (95% CI: 10.53% - 15.28%). Cataract was the main cause of blindness (30.00%) and visual impairment (54.90%). A total of 54 participants (6.74%) had previous cataract surgery and, with best-corrected visual acuity, 35.12% showed visual acuity better than 20/60 in both eyes. Rates of visual impairment and blindness in this low-income elderly population were high. There was a considerable decrease in prevalence after optical correction emphasizing the importance of uncorrected refractive errors., Conclusion: Cataract was the main cause of blindness; poor visual outcomes in eyes previously operated for cataract reinforce the need to seek good quality cataract services and to provide careful postoperative follow-up.

The leatherback sea turtle (Dermochelys coriacea) population that nests in Brazil is restricted to a few individuals, but high densities of pelagic individuals are observed along the southern and southeastern Brazilian coast. We investigated the diversity of the mitochondrial DNA (mtDNA) control region in order to understand the relationship between nesting and pelagic leatherbacks from Brazil and elsewhere. High-quality 711-bp sequences were generated, analyzed, and compared with published data from worldwide populations. We detected the presence of shared haplotypes between nesting and pelagic aggregates from Brazil, as well as haplotypes shared with other nesting areas from the Atlantic and Pacific. Furthermore, the use of longer control region sequences allowed the subdivision of the common Atlantic haplotype A into 3 different haplotypes (A1, A3, and A4), thus improving the resolution of mtDNA-based leatherback phylogeography. The use of longer sequences partially supported a closer association between nesting and pelagic individuals from Brazil and pointed to a complex origin for the pelagic individuals in the Brazilian coast.

The giant otter (Pteronura brasiliensis) is an aquatic mammal of the Mustelidae family, endemic to South America. Its original distribution corresponds to the region from the Guyanas to Central-North Argentina, but it is extinct or on the verge of extinction in most of its historical range. Currently, the species is considered endangered by the World Conservation Union (IUCN). Based on its geographic distribution in the South American continent and on some morphological characters, two subspecies were suggested: P. brasiliensis brasiliensis, occurring in the Amazon and Orinoco River Basins, and P. brasiliensis paranensis, in the Paraná and Paraguai River Basins. However, there is no consensus on assuming this subspecies division and no detailed studies have been carried out to elucidate this question. This study aims to evaluate the genetic diversity and population structure of Pteronura brasiliensis along its range in Brazil to check the possibility of the existence of two distinct subspecies using also a reciprocal monophyly criterion. We analyzed the control region, and the Cytochrome b and Cytochrome c Oxidase subunit I genes of the mitochondrial DNA in several giant otter populations from the Amazon and Paraguai River Basins. Analyses have indicated some degree of geographic correlation and a high level of inter-population divergence, although the subspecies division is not highly supported. As we observed strong population structure, we cannot rule out the existence of further divisions shaping the species distribution. The results suggest that a more complex population structure occurs in P. brasiliensis, and the conservation practice should concentrate on preserving all remaining local populations.

Forest fragmentation affects bird populations in many ways, modifying the composition of communities and favouring open country species. The Atlantic Forest is considered one of the most important biomes in the world, due to its great biodiversity, accelerated rates of deforestation, and high endemism. Despite these characteristics, few studies have evaluated the effects of forest fragmentation in the genetic structure of Atlantic forest bird populations. So, this study aims to verify the effects of forest fragmentation in the genetic population structure of Conopophaga lineata, through RAPD markers. To achieve this goal, 89 C. lineata individuals were captured in nine Atlantic Forest fragments in Minas Gerais State. The RAPD data indicate that forest fragmentation has not affected the genetic variation of C. lineata populations (Mann-Whitney U=3.50; p=0.11). Great part of the genetic variability of this species is found within populations and it was not observed a correlation between genetic and geographic distance (Mantel test t=0.6250; p=073). UPGMA analyses did not show defined clades and all branches showed low statistical support. The low population differentiation observed in this species can be due to a high gene flow among populations or a recent fragmentation. Thus, the current diversity status of C. lineata populations indicates that this species is not significantly affected by fragmentation. However, more genetic studies are essential to improve conservation strategies of Brazilian Atlantic Forest birds.

Background and Aims: Hymenaea stigonocarpa (Fabaceae: Caesalpinioideae) is an endemic tree from the Brazilian cerrado (savanna vegetation), a biome classified as a hotspot for conservation priority. This study investigates the phylogeographic structure of H. stigonocarpa, in order to understand the processes that have led to its current spatial genetic pattern., Methods: The polymorphism level and spatial distribution of variants of the plastid non-coding region between the genes psbC and trnS were investigated in 175 individuals from 17 populations, covering the greater part of the total distribution of the species. Molecular diversity indices were calculated and intra-specific relationships were inferred by the construction of haplotype networks using the median-joining method. Genetic differentiation among populations and main geographical groups was evaluated using spatial analysis of molecular variance (SAMOVA)., Key Results: Twenty-three different haplotypes were identified. The level of differentiation among the populations analysed was relatively high (F(ST) = 0.692). Phylogeographic analyses showed a clear association between the haplotype network and geographic distribution of populations, revealing three main geographical groups: western, central and eastern. SAMOVA corroborated this finding, indicating that most of the variation can be attributed to differences among these three groups (58.8 %), with little difference among populations within groups (F(SC) = 0.252)., Conclusions: The subdivision of the geographic distribution of H. stigonocarpa populations into three genetically differentiated groups can be associated with Quaternary climatic changes. The data suggest that during glacial times H. stigonocarpa populations became extinct in most parts of the southern present-day cerrado area. Milder climatic conditions in the north and eastern portions of the cerrado resulted in maintenance of populations in these regions. Thus it is inferred that the most southern part of the present-day cerrado was re-colonized by different lineages from northern parts of this biome, after postglacial climate amelioration.

Background: Chromobacterium violaceum is a free-living bacterium able to survive under diverse environmental conditions. In this study we evaluate the genetic and physiological diversity of Chromobacterium sp. isolates from three Brazilian ecosystems: Brazilian Savannah (Cerrado), Atlantic Rain Forest and Amazon Rain Forest. We have analyzed the diversity with molecular approaches (16S rRNA gene sequences and amplified ribosomal DNA restriction analysis) and phenotypic surveys of antibiotic resistance and biochemistry profiles., Results: In general, the clusters based on physiological profiles included isolates from two or more geographical locations indicating that they are not restricted to a single ecosystem. The isolates from Brazilian Savannah presented greater physiologic diversity and their biochemical profile was the most variable of all groupings. The isolates recovered from Amazon and Atlantic Rain Forests presented the most similar biochemical characteristics to the Chromobacterium violaceum ATCC 12472 strain. Clusters based on biochemical profiles were congruent with clusters obtained by the 16S rRNA gene tree. According to the phylogenetic analyses, isolates from the Amazon Rain Forest and Savannah displayed a closer relationship to the Chromobacterium violaceum ATCC 12472. Furthermore, 16S rRNA gene tree revealed a good correlation between phylogenetic clustering and geographic origin., Conclusion: The physiological analyses clearly demonstrate the high biochemical versatility found in the C. violaceum genome and molecular methods allowed to detect the intra and inter-population diversity of isolates from three Brazilian ecosystems.

This study aims to investigate the prevalence of posttraumatic stress disorder (PTSD) symptoms, anxiety, and depression in patients with hematological malignancies, and to investigate the possible relationship between these symptoms and variables such as demographic data, social support, and quality of life (QOL). We studied 107 patients: 54 with non-Hodgkin's lymphoma (NHL), 18 acute myelogenous leukaemia (AML), 10 acute lymphoblastic leukaemia (ALL), and 25 multiple myeloma (MM). Demographic data were collected, and three standardized instruments were applied to this group of patients: Hospital Anxiety and Depression Scale (HADS), Impact of Event Scale (IES), European Organization for Research and Treatment of Cancer (EORTC) QLQ-C30 questionnaire of QOL. The results showed a significant percentage of patients presenting with symptoms: 13% had high levels of intrusive thoughts, 20.5% had high levels of anxiety, and 16.8% had high levels of depression. Patients with MM had the lowest QOL scores in the EORTC physical functioning subscale. Patients under intravenous chemotherapy treatment had a higher level of anxiety than the monitoring patients. Patients with recent diagnosis had a level of intrusion symptoms (IES) relevantly higher than the others. The unemployed patients and those with lower social support had levels of stress, anxiety, and depression significantly higher than the others. Our results confirm the high incidence of intrusion, avoidance, anxiety, and depression in patients with hematological malignancies and highlight the importance of a multidisciplinary staff to complement the treatment of these patients, including psychosocial assistance.

The Y chromosome carries several spermatogenesis genes distributed in three regions: AZFa, AZFb and AZFc. Microdeletions in these regions have been seen in 10% of sterile males with azoospermia or oligozoospermia, the most frequent of them being characterized by a complete deletion of AZFc region. A partial AZFc deletion named gr/gr has been singled out as a risk factor for spermatogenic failure. However, other authors have diagnosed it as a polymorphic deletion with no clinical relevance. We decided to investigate the association of gr/gr deletion and infertility in Brazilian males. We analysed 350 individuals (110 azoospermic, 122 fertile and 118 presumably fertile) and observed 12 g/gr deletions: five in infertile men (4.5%), three among fertile males (2.5%) and four in probably fertile individuals (3.4%). These differences were not statistically significant. Then, we decided to ascertain whether the clinical impact of the gr/gr deletion was associated with the type of Y chromosome. We have identified Y-chromosome haplogroups using 22 unique event polymorphisms (UEPs). Among the individuals with the gr/gr deletion, we found haplogroups R, K*, F*, E1, E3b2 and E3b*, all of which are common in white Brazilian males, and none revealed a particular association with infertility. Taken together, these results show no evidence of association between the occurrence of gr/gr deletion and male infertility.

Comparative studies of salivary glands showed that they maybe related to the adaptive radiation of bats, especially in the family Phylostomidae. In this study we have been searching for a likely relationship between different feeding habits found in bats and possible adaptive changes in a coding segment of the alpha-amylase enzyme. We have also tested some hypothesis about the phylogenetic relationship of bats and other mammals. A 663 bp segment of the alpha-amylase gene, corresponding to the exon 4 and part of the intron c, was sequenced in nine bat species. The exon 4 was also sequenced in further ten mammalian species. The phylogenetic trees generated with different methods produced the same results. When the intron c and the exon 4 were independently analyzed, they showed distinct topologies involving the bat species Sturnira lilium, different from the traditional bat phylogeny. Phylogenetic analysis of bats, primates and rodents supports the Euarchontoglires-Laurasiatheria hypothesis about the relationship among these groups. Selection tests showed that the alpha-amylase exon 4 is under strong purifying selection, probably caused by functional constraints. The conflicting bat phylogenies could not be explained by evolutionary convergence due to adaptive forces, and the different topologies may be likely due to the retention of plesiomorphic characters or the independent acquisition by evolutionary parallelism.

We have previously shown that the Y chromosomes of 'white' Brazilians have their immediate geographical origin in Europe, with low frequency of sub-Saharan African chromosomes and virtual absence of Amerindian contribution. The typing of slow evolving polymorphisms on the Y chromosome also revealed no differences between Brazilians and Portuguese, the bulk of European immigrants to Brazil, and even among Brazilians from distinct regions of Brazil, the latter being in sharp contrast with mtDNA data. In order to test if the lack of differentiation is a sex-biased and not a marker-biased phenomenon, we decided to study faster evolving Y chromosome markers in samples from Brazil and Portugal previously studied. The population structure revealed by this work confirmed that there were indeed no significant differences between Brazil and Portugal and no population differentiation within the four geographical regions of Brazil, suggesting that this phenomenon is unrelated to the nature of the markers typed. Nevertheless the fast evolving markers did uncover a higher within population diversity in Brazil than Portugal, which could be explained by the input of diverse European Y chromosomes carried by several migration waves to Brazil. Our present data highlight the significance of typing and combining Y markers that evolve according to distinct mutational paces to usefully assess the levels of diversity in a given population, and can be applied in the study of populations derived from distinct geographical origins such as the Brazilians.

The Nogo gene maps to 2p14-p13, a region consistently associated with schizophrenia and bipolar disorder. The association of a polymorphism in Nogo was previously investigated by two groups, with divergent results. In this report, using an alternative approach, we evaluated this same polymorphism in 725 individuals, including patients with schizophrenia, bipolar disorder, normal controls and non-human primate samples. Our results indicate that the polymorphism is not associated with any of these diseases, but has a remarkably biased distribution in ethnic groups. Genotyping of primate samples, suggest that this polymorphism is a recent event in human speciation.

We examined DNA polymorphisms in the nonrecombining portion of the Y-chromosome to investigate the contribution of distinct patrilineages to the present-day white Brazilian population. Twelve unique-event polymorphisms were typed in 200 unrelated males from four geographical regions of Brazil and in 93 Portuguese males. In our Brazilian sample, the vast majority of Y-chromosomes proved to be of European origin. Indeed, there were no significant differences when the haplogroup frequencies in Brazil and Portugal were compared by means of an exact test of population differentiation. Y-chromosome typing was quite sensitive in the detection of regional immigration events. Distinct footprints of Italian immigration to southern Brazil, migration of Moroccan Jews to the Amazon region, and possible relics of the 17th-century Dutch invasion of northeast Brazil could be seen in the data. In sharp contrast with our mtDNA data in white Brazilians, which showed that > or =60% of the matrilineages were Amerindian or African, only 2.5% of the Y-chromosome lineages were from sub-Saharan Africa, and none were Amerindian. Together, these results configure a picture of strong directional mating between European males and Amerindian and African females, which agrees with the known history of the peopling of Brazil since 1500.

Context: The drawing up of adequate Public Health action planning to address the true needs of the population would increase the chances of effectiveness and decrease unnecessary expenses., Objective: To identify homogeneous regions in the UNIFESP/EPM healthcare center (HCC) coverage area based on sociodemographic indicators and to relate them to causes of deaths in 1995., Design: Secondary data analysis., Setting: HCC coverage area; primary care., Sample: Sociodemographic indicators were obtained from special tabulations of the Demographic Census of 1991., Main Measures: Proportion of children and elderly in the population; family providers' education level (maximum: > 15 years, minimum: < 1 year) and income level (maximum: > 20 minimum wages, minimum: < 1 minimum wage); proportional mortality distribution, Results: The maximum income permitted the construction of four homogeneous regions, according to income ranking. Although the proportion of children and of elderly did not vary significantly among the regions, minimum income and education showed a statistically significant (p < 0.05) difference between the first region (least affluent) and the others. A clear trend of increasing maximum education was observed across the regions. Mortality also differed in the first region, with deaths generated by possibly preventable infections., Conclusion: The inequalities observed may contribute to primary health prevention.

A multicentre study concerned with the health needs of the elderly population living in urban areas and coordinated by the Panamerican Health Organization was undertaken in 6 Latin-American countries. In Brazil, 1,602 elderly residents (of 60 years of age and over) in the District of S. Paulo, constituting a multistage random sample stratified by socioeconomic status, participated in a household survey using a multidemensional functional assessment questionnaire. The results showed a highly deprived population (70% had a per capita income of less than US $ 100 per month), living mostly in multigenerational households (59% were living with children and/or grandchildren), with a high prevalence of chronic physical illnesses (only 14% referred no illness) and psychiatric disorders (27% were considered psychiatric cases), a high proportion of them showing a loss of autonomy (47% needed help in performing at least one of the activities of daily living). The results are put into perspective concerning future needs in terms of specialized health services and social support for the growing population of elderly people in Brazil.

Antibodies of IgG and IgM isotypes reacting with Plasmodium falciparum and P. vivax thicksmear antigens were searched for by the indirect fluorescent antibody test (IFAT) in a random sample of 230 blood donors at the transfusion centre of Porto Velho (HEMERON), Rondônia State, western Brazilian Amazon. A high prevalence of IgG seropositivity (32% against P. falciparum, 24% against P. vivax and 37% against either P. falciparum or P. vivax antigens) was detected among them, despite the fact that candidates reporting recent (< 12 months) malaria attacks were not eligible. Only a small proportion of them had also detectable IgM antibodies to these antigens. These data suggest an intense, relatively recent exposure to malaria in such an urban population sample. However, parasitaemia (as detected by microscopical examination of Giemsa-stained thick smears) was patent in only one prospective donor. The antibody profile of blood donors was compared with that of healthy subjects of all age groups, living in a close endemic area (Candeias village, 21 km east of Porto Velho). The villagers were classified into two groups according to their history of a recent (< 12 months) or a remote (> 12 months) past malaria attack due to either P. falciparum or P. vivax. Extensive overlapping was observed when the distribution of antibody titres of healthy subjects from Candeias village with a recent and remote malaria history was compared. In conclusion, subjects with a recent or a remote malaria history could not be distinguished by serological criteria alone.