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In this study, we present 3 cases of Down syndrome (DS) associated with disorders/differences of sex development (DSD) and review the literature on this topic. Case 1: 1-year-old child with male genitalia and DS phenotype, 47,XX,+21 karyotype and testicular DSD. Case 2: 11-month-old child with male genitalia and few DS dysmorphisms, 45,X/47,XY,+21 karyotype, and mixed gonadal dysgenesis. Case 3: 4-month-old child with female genitalia and DS phenotype, 47,XY,+21 karyotype and XY complete gonadal dysgenesis. In the literature, among 188 patients, 107 (57%) had Klinefelter syndrome and 61 (33%) Turner syndrome, 12 (6%) had mixed gonadal dysgenesis, 2 (1%) had partial androgen insensitivity, 2 (1%) ovotesticular DSD, and the others had congenital adrenal hyperplasia, XY partial gonadal dysgenesis, XY complete gonadal dysgenesis, and complete androgen insensitivity (1 case each). A typical DS phenotype was found in all individuals of the revision, with the exception of one case, but DSD features were not always reported. In conclusion, the association of DS with sex chromosome DSD is the most frequently observed, whereas associations with 46,XX and 46,XY DSD is extremely rare.

Introdução: A malária consiste em uma doença infecciosa febril aguda, não contagiosa, podendo ter evolução rápida, causada por protozoários do gênero Plasmodium, transmitidos pelo vetor fêmea do mosquito Anopheles. No Brasil encontramos P. vivax, P. falciparum e P. malarie. As manifestações clínicas caracterizam-se, principalmente, por febre elevada, sudorese, calafrios, cefaleia e dores no corpo. Apesar de ser endêmica da região amazônica, a letalidade da malária fora desta região é cerca de 80 vezes maior devido ao atraso, tanto do diagnóstico quanto do início da terapêutica. Objetivos: Relatar o perfil epidemiológico de pacientes com suspeita de malária. Metodologia: Estudo descritivo, observacional e transversal. Resultados: Foram atendidos no HUOP 13 casos suspeitos de pacientes com malária, sendo que 69,23% (9) eram do sexo masculino e 61,53% (8) eram brancos. A média geral de idade observada foi de 50,15 anos. Sinais e sintomas como febre e mialgia foram relatados em apenas um caso, após viagem à região endêmica. Os casos suspeitos foram encaminhados à Vigilância Epidemiológica do município por ser um agravo passível de notificação compulsória. Os métodos de diagnóstico laboratorial utilizados foram a gota espessa (GE) e o teste rápido – imunocromatográfico (TR). Das suspeitas de malária, 46,15% (6) foram confirmadas com características morfológicas de P. vivax em todos dos casos. O tratamento foi relatado em apenas dois casos, ambos utilizaram a Primaquina 5 mg associado a Cloroquina, de diferentes formas. Conclusões: Observou-se uma maior incidência da espécie P. vivax, caracterizado pelo quadro febril e mialgia, predominante em pacientes do sexo masculino. Tanto os sintomas, como detalhes em relação a terapêutica não foram relatados no prontuário do paciente na maioria dos casos. Apesar do quadro de atendimento emergencial, especialmente longe de áreas endêmicas, o quadro febril inespecífico da malária pode ser confundido com outras doenças e, assim, conduzir ao diagnóstico e tratamento tardios, complicações graves e a morte.

The search for alternative methods that are efficient to control phytopathogens is extremely important. For this purpose, the aim of this study is to develop and characterize Neem oil nanoemulsions (Azadirachta indica), as well as evaluate its applicability to fungi Aspergillus flavus and Penicillium citrinum in soybean seeds. Soybean seeds were placed with nanoemulsion containing different Neem oil concentrations (0.5%, 1%, 2%, and 3% w/v) for t1 (600 min) and t2 (30 min). Control samples (positive: infested and untreated; and negative: not infested and treated) were also carried out. Prior to the treatments, the formulated nanoemulsions were characterized by dynamic light dispersion, polydispersity, rheology, and stability test. Subsequently, the soybean seeds were treated with nanoemulsion and then tested for germination and health. The nanoemulsion showed a mean droplet diameter of 59 ± 0.6 nm, and a viscosity of 2.542 ± 0.07 mPa s. The droplet sizes in the nanoemulsion were stable for a period of 20 days and the polydispersity remained around 0.209 ± 0.02. Neem oil had an inhibitory effect on the growth of fungal isolates, being that the highest antifungal activity was observed at the concentration of 3% (w/v) (28 mm inhibition zone for A. flavus and 25 mm for P. citrinum). Neem oil nanoemulsions were efficient against the studied fungi and did not present phytotoxic effects to the seeds. Nanoemulsion is easily accessible, economically viable and, in addition, less toxic than common synthetic pesticides. This study showed that Neem oil nanoemulsions have significant potential applications in agriculture.

Biodegradable polymers, when reinforced with nanostructures, are considered good sustainable coatings and viable alternatives to replace conventional coatings. In addition, biopesticides are also considered safe, biodegradable and environmentally friendly; therefore there is a growing interest in nanoemulsions based on phytochemical mixtures. In this context, the aim of this study is to aggregate Neem oil nanoemulsions and pectin matrices to produce nanocomposite films, as well as evaluate the nanoemulsions effect on the film properties for coating soybean seeds. Nanoemulsions were characterized assessing their average diameter and stability, while the nanocomposite antifungal, morphology, mechanical and barrier properties were analyzed. In general, the nanoemulsions had an average diameter close to 59 ± 0.61 nm, showed good stability and its addition improved film mechanical properties: reduced stiffness, resistance, and water vapor permeability, and increased extensibility. In addition, Neem oil provided antifungal properties against Aspergillus Flavus and Penicillium Citrinum. The seed coatings promoted a positive effect on the germination process of soybean seeds. Thus, antifungal nanocomposite films from renewable sources were successfully produced. The fungicidal inhibition of Neem oil as a nanoemulsion makes these new materials promising for the production of seed coatings.

O presente trabalho objetivou relatar o caso de uma égua de pelagem pampa, Mangalarga, com 10 anos de idade, atendida no Hospital Veterinário Vicente Borelli, da Fundação de Ensino Octávio Bastos, apresentando lesão circular e ulcerada em região de músculo semi-membranoso direito próximo a vulva, diagnosticada como carcinoma de células escamosas.O carcinoma de células escamosas ou carcinoma epidermoide é uma neoplasia cutânea cada vez mais comum na rotina clínica equina, trata-se de um tumor maligno dos queratinócitos que acomete áreas despigmentadas da pele ou com rarefação pilosa, devido a maior exposição solar. O animal foi submetido a tratamento com crioterapia, com remissão da neoplasia, conforme dito no exame histopatológico.

The aim of this study was to verify the influence of Y chromosome and intrauterine androgens production/action on birth weight and length of children with Disorders/Differences of Sex Development (DSD). This was a cross-sectional and retrospective study. Cases of Turner syndrome (TS), complete (XX and XY), mixed (45,X/46,XY) and partial (XY) gonadal dysgenesis (GD), complete (CAIS) and partial (PAIS) androgen insensitivity syndromes and XX and XY congenital adrenal hyperplasia (CAH) were included. Such conditions were grouped according to karyotype and to intrauterine production/action of androgens. The sample consisted of 293 cases, 50 with TS, 28 mixed GD, 117 CAH (49 XY and 68 XX), 18 CAIS, 10 PAIS, 30 partial GD, 10 XY and 30 XX complete GD. Birth weight and length were lower in TS and mixed GD when compared to XY and XX. In turn, patients with increased androgen production/action (117 cases) had higher birth weight and length when compared to those with absent (108 cases) and decreased (68 cases) production/action. It was observed a negative influence of the 45,X/46,XY karyotype in birth weight and a positive influence of increased androgen production/action. Regarding birth length, there was a negative influence of the TS karyotype and of decreased androgen production/action. In conclusion, in DSD, both karyotype, especially with a 45,X cell line, and intrauterine androgenic production/action influence sex dimorphism of birth weight and length. It can be inferred that in children with normal karyotype and without a DSD, this dimorphism is mainly due to intrauterine androgenic production or action.

The development of high-performance xylose-fermenting yeast is essential to achieve feasible conversion of biomass-derived sugars in lignocellulose-based biorefineries. However, engineered C5-strains of Saccharomyces cerevisiae still present low xylose consumption rates under anaerobic conditions. Here, we explore alternative metabolisms involved in metal homeostasis, which positively affect C5 fermentation and analyse the non-obvious regulatory network connection of both metabolisms using time-course transcriptome analysis. Our results indicated the vacuolar Fe2+ /Mn2+ transporter CCC1, and the protein involved in heavy metal ion homeostasis BSD2, as promising new targets for rational metabolic engineering strategies, enhancing xylose consumption in nine and 2.3-fold compared with control. Notably, intracellular metal concentration levels were affected differently by mutations and the results were compared with positive controls isu1Δ, a Fe-S cluster scaffold protein, and ssk2Δ, a component of HOG pathway. Temporal expression profiles indicate a metabolic remodelling in response to xylose, demonstrating changes in the main sugar sensing signalling pathways. ispartof: MICROBIAL BIOTECHNOLOGY vol:14 issue:5 pages:2101-2115 ispartof: location:United States status: published

Made available in DSpace on 2021-06-25T12:38:21Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-02-17 Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) Agencia Nacional de Promocion Cientifica y Tecnologica Anurans have the greatest diversity of reproductive modes among tetrapod vertebrates, with at least 41 being currently recognized. We describe a new reproductive mode for anurans, as exhibited by the Paranapiacaba Treefrog, Bokermannohyla astartea, an endemic and poorly known species of the Brazilian Atlantic Forest belonging to the B. circumdata group. We also describe other aspects of its reproductive biology, that are relevant to understanding the new reproductive mode, such as courtship behavior, spawning, and tadpoles. Additionally, we redescribe its advertisement call and extend its vocal repertoire by describing three additional call types: courtship, amplectant, and presumed territorial. The new reproductive mode exhibited by B. astartea consists of: (1) deposition of aquatic eggs in leaf-tanks of terrestrial or epiphytic bromeliads located on or over the banks of temporary or permanent streams; (2) exotrophic tadpoles remain in the leaf-tanks during initial stages of development (until Gosner stage 26), after which they presumably jump or are transported to streams after heavy rains that flood their bromeliad tanks; and (3) tadpole development completes in streams. The tadpoles of B. astartea are similar to those of other species of the B. circumdata group, although with differences in the spiracle, eyes, and oral disc. The vocal repertoire of B. astartea exhibits previously unreported acoustic complexity for the genus. Bokermannohyla astartea is the only bromeligenous species known to date among the 187 known species within the tribe Cophomantini. We further discuss evolutionary hypotheses for the origin of this novel reproductive mode. Fundacao Conservacao & Prod Florestal Estado Sao, Nucleo Sao Sebastiao, Parque Estadual Serra Mar, Sao Sebastiao, SP, Brazil Univ Estadual Paulista, Dept Biodiversidade, Inst Biociencias, Rio Claro, SP, Brazil Univ Estadual Paulista, Ctr Aquicultura CAUNESP, Inst Biociencias, Rio Claro, SP, Brazil Univ Fed Minas Gerais, Inst Ciencias Biol, Programa Posgrad Zool, Belo Horizonte, MG, Brazil Univ Sao Paulo, Dept Biol, Programa Posgrad Biol Comparada, FFCLRP, Ribeirao Preto, SP, Brazil Consejo Nacl Invest Cient & Tecn, Museo Argentino Ciencias Nat, Div Herpetol, Buenos Aires, DF, Argentina Univ Buenos Aires, Fac Ciencias Exactas & Nat, Dept Biodiversidad & Biol Expt, Buenos Aires, DF, Argentina Univ Fed ABC UFABC, Ctr Ciencias Nat & Humanas, Sao Bernardo Do Campo, SP, Brazil Univ Estadual Paulista, Dept Biodiversidade, Inst Biociencias, Rio Claro, SP, Brazil Univ Estadual Paulista, Ctr Aquicultura CAUNESP, Inst Biociencias, Rio Claro, SP, Brazil CNPq: 141259/2014-0 FAPESP: 2008/54472-2 FAPESP: 2008/50928-1 FAPESP: 2013/50741-7 FAPESP: 2014/50342-8 FAPESP: 2014/23677-9 CAPES: 440665/2015-9 CNPq: 202081/2015-0 CNPq: 306623/2018-8 CNPq: 312795/2018-1 CNPq: 310301/2018-1 FAPESP: 2017/27137-7 FAPESP: 2018/15425-0 FAPESP: 2017/26162-8 Agencia Nacional de Promocion Cientifica y Tecnologica: ANPCyT PICT 2015-820 CAPES: 001

The objective of this work was to evaluate the partial replacement of gum arabic by modified starches on the spray-drying microencapsulation of lemongrass (Cymbopogon flexuosus) essential oil. The ultrasound-assisted emulsions were prepared with 30% (w/w) of wall material, 7.5% (w/w) of oil load, and 1:1 (w/w) replacement ratio for all treatments. After 16 hours, the incompatibility observed between gum arabic and octenyl succinic anhydride (OSA) starch did not affect the obtained microparticles, since the treatment with OSA starch, partially replacing gum arabic, showed the best results for the process yield and for the oil charge retention after spray-drying process, and the treatment showed Newtonian viscosity close to that of the treatment prepared with gum arabic. Maltodextrin dextrose equivalent 10 (10DE) shows an oil load similar to that of the treatment with gum arabic, while the presence of maize maltodextrin DE20 reduces the content of encapsulated oil and the efficiency of the drying process due to the adherence of particles to the chamber. Therefore, the partial substitution of gum arabic is an alternative for the formation of emulsions, for the spray-drying microencapsulation of lemongrass essential oil. Resumo O objetivo deste trabalho foi avaliar a substituição parcial da goma arábica por amidos modificados, na microencapsulação do óleo essencial de capim-limão (Cymbopogon flexuosus), por meio de secagem por atomização. As emulsões assistidas por ultrassom foram preparadas com 30% (m/m) de material de parede, 7,5% (m/m) de carga de óleo e 1:1 (m/m) de taxa de substituição para todos os tratamentos. Após 16 horas, a incompatibilidade observada entre a goma arábica e o anidrido octenil succínico (AOS) não afetou as micropartículas obtidas, uma vez que o tratamento com o amido AOS, em substituição parcial à goma arábica, apresentou os melhores resultados quanto ao rendimento do processo e à retenção de carga de óleo após a secagem por atomização, e o tratamento mostrou viscosidade newtoniana próxima à do tratamento preparado com goma arábica. A maltodextrina dextrose equivalente 10 (10DE) mostra uma carga de óleo semelhante à do tratamento com goma arábica, enquanto a presença de maltodextrina de milho DE20 reduz o teor de óleo encapsulado e a eficiência do processo de secagem, em razão da aderência das partículas à câmara. Portanto, a substituição parcial da goma arábica mostra-se como alternativa para a formação de emulsões, para a microencapsulação por meio de secagem por atomização do óleo essencial de capim-limão.

Botanical origin is one of the principal factors influencing the composition and quality of honey. This study aimed to evaluate different single-flower (assa-peixe, coffee, eucalyptus, laranjeira, and vassourinha), polyfloral (silvestre), extrafloral (sugarcane), and honeydew (bracatinga) honeys with regard to their chemical, physicochemical, and physical properties; rheological behavior; bioactive compounds; and antioxidant activity. In addition, we assessed their sensory characteristics using the acceptance test and the check-all-that-apply test (CATA). All honeys were compliant with current legislation and presented Newtonian behavior. The honeys of assa-peixe, laranjeira, and coffee presented the highest viscosity, sugarcane honey showed the highest antioxidant activity, and the bracatinga honey had the highest phenolic compound content. With respect to sensory characteristics, floral honeys presented higher acceptability than did honeydew and extrafloral honeys, because honey from honeydew was negatively influenced by its bitter, alcoholic, and astringent taste and extrafloral honey by its burnt smell. These findings indicate that the botanical origin directly influences the characteristics of honeys and can be considered a factor for their differentiation. [Image: see text] ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s13197-020-04884-7) contains supplementary material, which is available to authorized users.

Made available in DSpace on 2020-12-10T20:10:31Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-08-14 Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) Serrapilheira Institute Background The need to restructure the world's energy matrix based on fossil fuels and mitigate greenhouse gas emissions stimulated the development of new biobased technologies for renewable energy. One promising and cleaner alternative is the use of second-generation (2G) fuels, produced from lignocellulosic biomass sugars. A major challenge on 2G technologies establishment is the inefficient assimilation of the five-carbon sugar xylose by engineeredSaccharomyces cerevisiaestrains, increasing fermentation time. The uptake of xylose across the plasma membrane is a critical limiting step and the budding yeastS. cerevisiaeis not designed with a broad transport system and regulatory mechanisms to assimilate xylose in a wide range of concentrations present in 2G processes. Results Assessing diverse microbiomes such as the digestive tract of plague insects and several decayed lignocellulosic biomasses, we isolated several yeast species capable of using xylose. Comparative fermentations selected the yeastCandida sojaeas a potential source of high-affinity transporters. Comparative genomic analysis elects four potential xylose transporters whose properties were evaluated in the transporter null EBY.VW4000 strain carrying the xylose-utilizing pathway integrated into the genome. While the traditional xylose transporter Gxf1 allows an improved growth at lower concentrations (10 g/L), strains containing Cs3894 and Cs4130 show opposite responses with superior xylose uptake at higher concentrations (up to 50 g/L). Docking and normal mode analysis of Cs4130 and Gxf1 variants pointed out important residues related to xylose transport, identifying key differences regarding substrate translocation comparing both transporters. Conclusions Considering that xylose concentrations in second-generation hydrolysates can reach high values in several designed processes, Cs4130 is a promising novel candidate for xylose uptake. Here, we demonstrate a novel eukaryotic molecular transporter protein that improves growth at high xylose concentrations and can be used as a promising target towards engineering efficient pentose utilization in yeast. Brazilian Ctr Res Energy & Mat CNPEM, Brazilian Biorenewable Natl Lab LNBR, BR-13083100 Campinas, SP, Brazil Univ Campinas UNICAMP, Inst Biol, Genet & Mol Biol Grad Program, Campinas, Brazil Brazilian Ctr Res Energy & Mat CNPEM, Brazilian Biosci Natl Lab LNBio, BR-13083970 Campinas, SP, Brazil Brazilian Ctr Res Energy & Mat CNPEM, Brazilian Synchrotron Light Lab LNLS, BR-13083970 Campinas, SP, Brazil Sao Paulo State Univ, UNESP, Dept Phys, Inst Biosci Humanities & Exact Sci, BR-15054000 Sao Jose Do Rio Preto, SP, Brazil Sao Paulo State Univ, UNESP, Dept Phys, Inst Biosci Humanities & Exact Sci, BR-15054000 Sao Jose Do Rio Preto, SP, Brazil FAPESP: 2017/08519-6 FAPESP: 2017/05078-9 FAPESP: 2018/00888-5 CNPq: 430291/2018-3 CAPES: 001 Serrapilheira Institute: Serra1708-16205

Historically, the terms partial (PGD) and mixed gonadal dysgenesis (MGD) have been used to describe incomplete testicular differentiation in individuals with 46,XY or 45,X/46,XY karyotypes, respectively. However, it is currently unclear to what extent clinical features actually differ between these individuals. The aim of this study was to compare clinical, laboratory, and histological findings in these 2 groups. Patients with testicular dysgenesis seen in our service between 1989 and 2013 were selected. Sixty-one patients met the inclusion criteria. Individuals with 46,XY and 45,X/46,XY karyotypes were compared regarding genital features, gonadal histology and function, growth, and associated conditions. Twenty-five had mosaicism with a 45,X cell line (MGD), while a 46,XY karyotype (PGD) was found in 36 cases belonging to 32 families. Mutations in NR5A1, WT1, and SRY genes associated with testicular dysgenesis were found in 12 families. There were no significant differences regarding parental consanguinity, degree of external androgenization, gonadal location, histology, and function, and associated conditions. However, in the MGD group, the presence of a uterus, lower birth weight and length, and short stature were more often observed. Therefore, the use of histological features to classify PDG and MGD should be abandoned and replaced by classification based on karyotype.

Duplications of dosage sensitive sex-locus Xp21.2 including NR0B1 have been linked to 46,XY gonadal dysgenesis (GD) and their effects are attributed merely to increase gene dosage of NR0B1 (DAX1). Here we present a general mechanism how deletions, duplications, triplications or inversions with or without NR0B1 at Xp21.2 can lead to partial or complete GD by disrupting the cognate topological associated domain (TAD) in the vincinity of NR0B1. Our model is supported by three unrelated patients: two showing a 287kb overlapping duplication at the Xp21.2 locus upstream of NR0B1 containing CXorf21 and GK and one patient having a large new triplication of Xp21.2 as the most likely cause of GD. Whole Genome sequencing uncovered the exact structural rearrangements of the duplications and the triplication. Comparison with a previously published deletion upstream of NR0B1 revealed a common 35kb overlap between the deletion, our newly reported NR0B1 upstream duplications and the triplication as well as all other copy number variations (CNVs) at Xp21.2 reported so far. This overlap contains a strong CCCTC-binding factor (CTCF) binding site representing one boundary of the NR0B1 TAD. All three CNVs at Xp21.2 most likely disrupt this TAD boundary, which isolates NR0B1 from CXorf21 and GK and putatively results in GK and CXorf21 enhancer adoption and ensuing ectopic NR0B1 expression. As a result, the patients’ transcriptomes developed an intermediate expression pattern with both ovarian and testicular features and greatly reduced expression of spermatogenesis-related genes. This model not only allows better diagnosis of GD displaying CNVs at Xp21.2, but also gives deeper insight how spatiotemporal activation of developmental genes can be disrupted by reorganized TADs also in other rare diseases.

A proteção inicial das plantas por meio da utilização de inseticidas e fungicidas tem se mostrado eficiente para um bom manejo de pragas e doenças, entretanto algumas moléculas utilizadas no tratamento de sementes vêm demonstrando um efeito fisiológico sobre a germinação e o desenvolvimento vegetativo inicial. O presente trabalho teve como objetivo a avaliação do efeito fisiológico provocado por inseticidas contendo os princípios ativos Imidacloprido, Tiametoxam, e um fungicida com os princípios ativos Metalaxyl-M + Fludioxonil sobre a germinação e sobre o vigor das sementes. O experimento foi conduzido no Laboratório de Análise de Sementes da Universidade do Estado de Minas Gerais – Unidade Ituiutaba em Delineamento em Blocos Casualisados com seis tratamentos e quatro repetições para cada tratamento. Os tratamentos foram os seguintes: T1 - água destilada; T2 – inseticida Rocks® (Bifentrina + Imidacloprido); T3 – inseticida Cruiser® (Thiamethoxam); T4 – fungicida Maxim XL® (Fludioxonil + Metalaxyl-M); T5 – Rocks® + Maxim XL® e T5 – Cruiser® + Maxim XL®. A aplicação dos tratamentos foi realizada conforme recomendação dos fabricantes e foram avaliados o porcentual de germinação das sementes, o índice de velocidade de emergência, a condutividade elétrica da solução de embebição e o comprimento total de plântulas. Os dados foram submetidos à Análise de Variância (0,05) e as médias foram comparadas pelo teste de Tukey (0,05). Os resultados indicaram que não houve diferença estatisticamente significativa para as variáveis germinação (%), índice de velocidade de emergência, condutividade elétrica da solução de embebição. Para a variável comprimento de plântulas constatou-se que houve diferença estatisticamente significativa ao nível de 5%, sendo assim, os tratamentos 3, 4, 5 e 6 foram estatisticamente superiores aos tratamentos 1 e 2.

Aerobic exercise (AE) reduces lung function decline and risk of exacerbations in asthmatic patients. However, the inflammatory lung response involved in exercise during the sensitization remains unclear. Therefore, we evaluated the effects of exercise for 2 weeks in an experimental model of sensitization and single ovalbumin-challenge. Mice were divided into 4 groups: mice non-sensitized and not submitted to exercise (Sedentary, n=10); mice non-sensitized and submitted to exercise (Exercise, n=10); mice sensitized and exposed to ovalbumin (OVA, n=10); and mice sensitized, submitted to exercise and exposed to OVA (OVA+Exercise, n=10). 24 h after the OVA/saline exposure, we counted inflammatory cells from bronchoalveolar fluid (BALF), lung levels of total IgE, IL-4, IL-5, IL-10 and IL-1ra, measurements of OVA-specific IgG1 and IgE, and VEGF and NOS-2 expression via western blotting. AE reduced cell counts from BALF in the OVA group (p

Incluye contenido parcial de los autores Abstract.Mammalian carnivores are considered a key group in maintaining ecologicalhealth and can indicate potential ecological integrity in landscapes where they occur. Carni-vores also hold high conservation value and their habitat requirements can guide managementand conservation plans. The order Carnivora has 84 species from 8 families in the Neotropicalregion: Canidae; Felidae; Mephitidae; Mustelidae; Otariidae; Phocidae; Procyonidae; andUrsidae. Herein, we include published and unpublished data on native terrestrial Neotropicalcarnivores (Canidae; Felidae; Mephitidae; Mustelidae; Procyonidae; and Ursidae). NEOTRO-PICAL CARNIVORES is a publicly available data set that includes 99,605 data entries from35,511 unique georeferenced coordinates. Detection/non-detection and quantitative data wereobtained from 1818 to 2018 by researchers, governmental agencies, non-governmental organi-zations, and private consultants. Data were collected using several methods including cameratrapping, museum collections, roadkill, line transect, and opportunistic records. Literature(peer-reviewed and grey literature) from Portuguese, Spanish and English were incorporated inthis compilation. Most of the data set consists of detection data entries (n=79,343; 79.7%) butalso includes non-detection data (n=20,262; 20.3%). Of those, 43.3% also include count data(n=43,151). The information available in NEOTROPICAL CARNIVORES will contribute tomacroecological, ecological, and conservation questions in multiple spatio-temporal perspec-tives. As carnivores play key roles in trophic interactions, a better understanding of their distri-bution and habitat requirements are essential to establish conservation management plans andsafeguard the future ecological health of Neotropical ecosystems. Our data paper, combinedwith other large-scale data sets, has great potential to clarify species distribution and relatedecological processes within the Neotropics. There are no copyright restrictions and no restric-tion for using data from this data paper, as long as the data paper is cited as the source of theinformation used. We also request that users inform us of how they intend to use the data.

Recently, many researches have become available in order to value agroindustrial waste and by-products through processes that exploit these wastes and transform them into new value-added products. Thus, this study aimed to assess the chemical composition (proximate analysis, mineral profile, pectic substances, carbohydrates), fatty acid profile, and bioactive compounds of two major exotic fruit wastes (seeds), marolo and soursop, largely found in one of the richest Brazilian biomes, the Savannah. Soursop and marolo seeds showed significant fat (295.1 and 311.3 g kg-1 d.b., respectively), protein (149.9 and 188.7 g kg-1 d.b., respectively), and fiber (426.7 and 351.1 g kg-1 d.b., respectively) contents. Marolo seeds were found to be the richest in phenolic compounds (32043.1 mg GAE kg-1 d.b.) and also presented the highest DPPH• scavenging activity (91.25%). The major phenolic compound found in marolo and soursop seeds was rutin. Among the fatty acids found in both seeds, the ones with unsaturated chains were predominant, such as oleic acid (48.54% for marolo, and 40.35% for soursop seeds). The seeds analyzed were found to be sources of Cu and Mg. Marolo and soursop seeds were found to be a good source of nutritional compounds and an alternative to obtain compounds of interest to be used in the development of food produce, pharmaceutical, and cosmetic products.

Incluye contenido parcial de los autores Biological invasion is one of the main threats to native biodiversity. For a speciesto become invasive, it must be voluntarily or involuntarily introduced by humans into a nonna-tive habitat. Mammals were among first taxa to be introduced worldwide for game, meat, and labor, yet the number of species introduced in the Neotropics remains unknown. In this dataset, we make available occurrence and abundance data on mammal species that (1) transposeda geographical barrier and (2) were voluntarily or involuntarily introduced by humans into theNeotropics. Our data set is composed of 73,738 historical and current georeferenced recordson alien mammal species of which around 96% correspond to occurrence data on 77 speciesbelonging to eight orders and 26 families. Data cover 26 continental countries in the Neotrop-ics, ranging from Mexico and its frontier regions (southern Florida and coastal-central Floridain the southeast United States) to Argentina, Paraguay, Chile, and Uruguay, and the 13 coun-tries of Caribbean islands. Our data set also includes neotropical species (e.g.,Callithrixsp.,Myocastor coypus,Nasua nasua)considered alien in particular areas of Neotropics. The mostnumerous species in terms of records are fromBossp. (n=37,782),Sus scrofa(n=6,730), andCanis familiaris(n=10,084); 17 species were represented by only one record (e.g., Syncerus caf-fer, Cervus timorensis, Cervus unicolor, Canis latrans). Primates have the highest number of spe-cies in the data set (n=20 species), partly because of uncertainties regarding taxonomicidentification of the generaCallithrix,which includes the speciesCallithrix aurita, Callithrixflaviceps, Callithrix geoffroyi, Callithrix jacchus, Callithrix kuhlii, Callithrix penicillata, andtheir hybrids. This unique data set will be a valuable source of information on invasion riskassessments, biodiversity redistribution and conservation-related research. There are no copy-right restrictions. Please cite this data paper when using the data in publications. We alsorequest that researchers and teachers inform us on how they are using the data

Context Larger studies on outcomes in males with 45,X/46,XY mosaicism are rare. Objective To compare health outcomes in males with 45,X/46,XY diagnosed as a result of either genital abnormalities at birth or nongenital reasons later in life. Design A retrospective, multicenter study. Setting Sixteen tertiary centers. Patients or Other Participants Sixty-three males older than 13 years with 45,X/46,XY mosaicism. Main Outcome Measures Health outcomes, such as genital phenotype, gonadal function, growth, comorbidities, fertility, and gonadal histology, including risk of neoplasia. Results Thirty-five patients were in the genital group and 28 in the nongenital. Eighty percent of all patients experienced spontaneous pubertal onset, significantly more in the nongenital group (P = 0.023). Patients were significantly shorter in the genital group with median adult heights of 156.7 cm and 164.5 cm, respectively (P = 0.016). Twenty-seven percent of patients received recombinant human GH. Forty-four patients had gonadal histology evaluated. Germ cells were detected in 42%. Neoplasia in situ was found in five patients. Twenty-five percent had focal spermatogenesis, and another 25.0% had arrested spermatogenesis. Fourteen out of 17 (82%) with semen analyses were azoospermic; three had motile sperm. Conclusion Patients diagnosed as a result of genital abnormalities have poorer health outcomes than those diagnosed as a result of nongenital reasons. Most patients, however, have relatively good endocrine gonadal function, but most are also short statured. Patients have a risk of gonadal neoplasia, and most are azoospermic, but almost one-half of patients has germ cells present histologically and up to one-quarter has focal spermatogenesis, providing hope for fertility treatment options.

The use of lemongrass oil as food preservative present great potential, however it has high volatility and intense aroma, making them limited to be used as food additives. Microencapsulation processes become interesting alternatives to overcome these issues. This work investigated the influence of the partial replacement of gum arabic by modified starches on the microencapsulation of lemongrass oil as core material. Gum arabic and its combinations with modified starches: cassava and corn maltodextrins with different dextrose equivalent (DE) and octenyl succinic anhydride modified starch (OSA-starch) were studied. The emulsions were spray dried at controlled temperature of 170 °C. The evaluated parameters particles solubility, moisture content, and oil composition did not showed significant differences among the treatments. Replacement of gum arabic by maltodextrin DE20 and OSA-starch resulted in higher wetting times. Oil retention was increased (81.2%) when gum arabic was replaced by OSA-starch; the treatment without substitution, with only gum arabic had 67.5% of oil retention. Application of OSA-starch in association with gum arabic in microencapsulation by spray drying of lemongrass oil presented greater potential to be used due to its higher oil retention. Polymer blends should be assessed since they present advantages over individually applied polymers. Although maltodextrins show some differences compared to the treatment with only gum arabic, it may also be a viable alternative because of its lower cost.

The cerrado is the main beef producing region of Brazil, with most of this production coming from extensive breeding systems. In this region

Made available in DSpace on 2018-12-11T17:23:22Z (GMT). No. of bitstreams: 0 Previous issue date: 2017-04-03 Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) Physalaemus centralis is distributed over open areas of eastern South America. Herein, we perform an extensive review of occurrence records and propose a potential distribution based on ecological niche modeling. In order to confirm species identification, as well taxonomic status along its distribution, we provide morphological and molecular data from analysed specimens. To reach our goals, we compiled data available in the literature and from scientific collections, as well as unpublished data. We identified records of P. centralis in 123 localities, 86 of those records remain unpublished. Consequently, it is possible to extend its range of distribution to the state of Rondônia, Brazil, and also to the Caatinga formation. The Maxent algorithm provided a model of potential distribution consistent with the distribution proposed here. Results indicate that P. centralis has a large distribution associated to open areas of South America (Cerrado, Caatinga and Pantanal), with no evidence that this is a case of species complex. The multiple approach proposed herein, that combines occurrence data from different sources and molecular data to confirm species identification, provided consistent results. Therefore, we recommend that this framework be used as a protocol to assess species distribution in future studies, especially in the case of widely distributed species. Laboratório de Vertebrados. Av. Itália Instituto de Ciências Biológicas Universidade Federal do Rio Grande, km 8, Vila Carreiros Laboratório de Herpetologia Departamento de Zoologia Instituto de Biociências Universidade Estadual Paulista (UNESP), Av 24 A, 1515, Bela Vista, Caixa Postal 199 Laboratório de Ecologia e Sistemática Departamento de Ciências Biológicas Instituto de Ciências Ambientais Químicas e Farmacêuticas Universidade Federal de São Paulo, Rua Prof. Artur Riedel, 275, Eldorado Laboratório de Herpetologia Departamento de Zoologia Instituto de Biociências Universidade Estadual Paulista (UNESP), Av 24 A, 1515, Bela Vista, Caixa Postal 199

Denys-Drash syndrome (DDS) is characterized by nephropathy, genital abnormalities, and predisposition to Wilms' tumor. DDS patients usually present heterozygous de novo germline WT1 mutations. The WT1 gene comprises 10 exons encoding the N-terminal transactivation and the C-terminal DNA-binding regions. Two unrelated patients with genital ambiguity and Wilms' tumor were analyzed by sequencing of the WT1 gene, and 3 mutations in exon 1 were identified of which 2 are novel. Patient 1 carried a c.555delC mutation that causes a frameshift and a premature stop codon. Patient 2 carried both c.421A>C and c.424C>T aberrations that lead to the missense p.Lys141Gln and the nonsense p.Lys142* mutation, respectively. As both patients were heterozygous for the mutations, we tested their parents who did not carry any mutation. Therefore, the 3 WT1 mutations occurred de novo in both patients. Heterozygous mutations result in WT1 haploinsufficiency as they impair protein production. They are associated with a milder DDS phenotype as observed in the patients studied here.

Xenarthrans -anteaters, sloths, and armadillos- have essential functions for ecosystem maintenance, such as insect control and nutrient cycling, playing key roles as ecosystem engineers. Because of habitat loss and fragmentation, hunting pressure, and conflicts with domestic dogs, these species have been threatened locally, regionally, or even across their full distribution ranges. The Neotropics harbor 21 species of armadillos, 10 anteaters, and 6 sloths. Our data set includes the families Chlamyphoridae (13), Dasypodidae (7), Myrmecophagidae (3), Bradypodidae (4), and Megalonychidae (2). We have no occurrence data on Dasypus pilosus (Dasypodidae). Regarding Cyclopedidae, until recently, only one species was recognized, but new genetic studies have revealed that the group is represented by seven species. In this data paper, we compiled a total of 42,528 records of 31 species, represented by occurrence and quantitative data, totaling 24,847 unique georeferenced records. The geographic range is from the southern United States, Mexico, and Caribbean countries at the northern portion of the Neotropics, to the austral distribution in Argentina, Paraguay, Chile, and Uruguay. Regarding anteaters, Myrmecophaga tridactyla has the most records (n = 5,941), and Cyclopes sp. Have the fewest (n = 240). The armadillo species with the most data is Dasypus novemcinctus (n = 11,588), and the fewest data are recorded for Calyptophractus retusus (n = 33). With regard to sloth species, Bradypus variegatus has the most records (n = 962), and Bradypus pygmaeus has the fewest (n = 12). Our main objective with Neotropical Xenarthrans is to make occurrence and quantitative data available to facilitate more ecological research, particularly if we integrate the xenarthran data with other data sets of Neotropical Series that will become. Fil: Marques Santos, Paloma. Universidade Federal de Minas Gerais. Instituto de Ciências Biológicas; Brasil Fil: Bocchiglieri, Adriana. Universidade Federal de Sergipe; Brasil Fil: Garcia Chiarello, Adriano. Universidade de Sao Paulo; Brasil Fil: Pereira Paglia, Adriano. Universidade Federal de Minas Gerais. Instituto de Ciências Biológicas; Brasil Fil: Moreira, Adryelle. Amplo Engenharia e Gestão de Projetos ; Brasil Fil: Abba, Agustin Manuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Centro de Estudios Parasitológicos y de Vectores. Universidad Nacional de La Plata. Facultad de Ciencias Naturales y Museo. Centro de Estudios Parasitológicos y de Vectores; Argentina Fil: Paviolo, Agustin Javier. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Universidad Nacional de Misiones. Instituto de Biología Subtropical; Argentina Fil: Gatica, Ailin. Universidad Nacional de San Luis; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - San Luis. Instituto Multidisciplinario de Investigaciones Biológicas de San Luis. Universidad Nacional de San Luis. Facultad de Ciencias Físico Matemáticas y Naturales. Instituto Multidisciplinario de Investigaciones Biológicas de San Luis; Argentina Fil: Ochoa, Ana Cecilia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - San Luis. Instituto Multidisciplinario de Investigaciones Biológicas de San Luis. Universidad Nacional de San Luis. Facultad de Ciencias Físico Matemáticas y Naturales. Instituto Multidisciplinario de Investigaciones Biológicas de San Luis; Argentina Fil: de Angelo, Carlos Daniel. Universidad Nacional de Rio Cuarto. Facultad de Cs.exactas Fisicoquimicas y Naturales. Instituto de Ciencias de la Tierra, Biodiversidad y Ambiente. - Consejo Nacional de Investigaciones Cientificas y Tecnicas. Centro Cientifico Tecnologico Conicet - Cordoba. Instituto de Ciencias de la Tierra, Biodiversidad y Ambiente.; Argentina Fil: Tellaeche, Cintia Gisele. Universidad Nacional de Jujuy. Facultad de Ciencias Agrarias. Centro de Estudios Ambientales Territoriales y Sociales; Argentina. Universidad Nacional de Jujuy. Instituto de Ecorregiones Andinas. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Salta. Instituto de Ecorregiones Andinas; Argentina Fil: Varela, Diego Martin. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú | Universidad Nacional de Misiones. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú; Argentina Fil: Vanderhoeven, Ezequiel Andres. Ministerio de Salud. Instituto Nacional de Medicina Tropical; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Caruso, María Flavia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Administración de Parques Nacionales. Delegación Regional del Noroeste; Argentina Fil: Arrabal, Juan Pablo. Secretaria de Gobierno de Salud. Instituto Nacional de Medicina Tropical - Sede Puerto Iguazú Misiones; Argentina. Centro de Investigaciones del Bosque Atlántico; Argentina Fil: Iezzi, María Eugenia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú | Universidad Nacional de Misiones. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú; Argentina Fil: Di Bitetti, Mario Santiago. Centro de Investigaciones del Bosque Atlántico; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú | Universidad Nacional de Misiones. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú; Argentina Fil: Cruz, Paula Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú | Universidad Nacional de Misiones. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú; Argentina. Centro de Investigaciones del Bosque Atlántico; Argentina Fil: Reppucci, Juan Ignacio. Administración de Parques Nacionales. Delegación Regional del Noroeste; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Benito Santamaria, Silvia. Centro de Investigaciones del Bosque Atlántico; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú | Universidad Nacional de Misiones. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú; Argentina Fil: Quiroga, Verónica Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Diversidad y Ecología Animal. Universidad Nacional de Córdoba. Facultad de Ciencias Exactas Físicas y Naturales. Instituto de Diversidad y Ecología Animal; Argentina Fil: Di Blanco, Yamil Edgardo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú | Universidad Nacional de Misiones. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú; Argentina Fil: Marás, Gustavo Arnaldo. Administración de Parques Nacionales. Delegación Regional del Noroeste; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Camino, Micaela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Centro de Ecología Aplicada del Litoral. Universidad Nacional del Nordeste. Centro de Ecología Aplicada del Litoral; Argentina Fil: Perovic, Pablo Gastón. Administración de Parques Nacionales. Delegación Regional del Noroeste; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Martínez Pardo, Julia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú | Universidad Nacional de Misiones. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú; Argentina Fil: Costa, Sebastián Andrés. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú | Universidad Nacional de Misiones. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú; Argentina Fil: Pinheiro, Fabiana. Universidade Federal do Rio Grande do Sul; Brasil Fil: Volkmer de Castilho, Pedro. Universidade Federal de Santa Catarina; Brasil Fil: Bercê, William. Universidade Estadual Paulista Julio de Mesquita Filho; Brasil Fil: Camara Assis, Julia. Universidade Estadual Paulista Julio de Mesquita Filho. Faculdade de Engenharia.; Brasil Fil: Rodrigues Tonetti, Vinicius. Universidade Estadual Paulista Julio de Mesquita Filho; Brasil Fil: Alves Eigenheer, Milene. Universidade Estadual Paulista Julio de Mesquita Filho; Brasil Fil: Chinem, Simonne. Universidade de Sao Paulo; Brasil Fil: Honda, Laura K.. Universidade Estadual Paulista Julio de Mesquita Filho; Brasil Fil: Bergallo, Helena de Godoy. Universidade do Estado de Rio do Janeiro; Brasil Fil: Alberici, Vinicius. Universidade de Sao Paulo; Brasil Fil: Wallace, Robert. Wildlife Conservation Society; Estados Unidos Fil: Ribeiro, Milton Cezar. Universidade de Sao Paulo; Brasil Fil: Galetti, Mauro. Universidade Estadual Paulista Julio de Mesquita Filho; Brasil

O estudo da instabilidade de vigas pré-moldadas de concreto tem merecido maior atenção devido aos preocupantes acidentes registrados com a ruptura de vigas por instabilidade lateral. A importância do estudo deve ser considerada além da fase de montagem, mas também durante o transporte e içamento. A geometria da viga influencia diretamente no problema de instabilidade, por se tratar de elementos estruturais longos e esbeltos. Neste contexto, este trabalho analisa numericamente o comportamento estrutural de vigas durante a fase de içamento por meio de cabos de aço, levando-se em conta a excentricidade lateral inicial e o posicionamento dos cabos de suspensão, considerando o comprimento dos balanços e os desvios de posicionamento das alças na seção transversal. Assim, para vigas com seção transversal I padronizadas são calculados os deslocamentos, tensões e ângulos de giro para diferentes comprimentos de balanço e desvios laterais das alças. Os resultados dos estudos numéricos mostram que as condições de içamento são mais seguras quando o manuseio é realizado com balanços e com alças no sentido contrário à curvatura. Além disso, deve-se observar o efeito favorável decorrente do aumento da altura da mesa inferior, deslocando para baixo o centro de gravidade do elemento estrutural, favorecendo o equilíbrio, chegando a 15% de redução nos deslocamentos e tensões, e diminuição de até 25% no valor da rotação da viga, na situação mais crítica sem balanços e com desvios desfavoráveis das alças de içamento. O aumento da excentricidade lateral inicial deve ser observado com cautela, podendo provocar acréscimos de tensões de até 30%, nos casos críticos sem balanços. Abstract The study of the instability of precast concrete beams has deserved more attention due to concerning accidents with beam rupture by lateral instability. The importance of the study should be considered beyond the transitory phase, but also transportation and lifting. The geometry of the beam influences directly in instability problem, due to long and slender structural elements. In this context, this research analyzes, numerically, the structural behavior of beams during the lifting phase by steel cables, taking into account the initial lateral eccentricity and positioning of the suspension cables, considering the length of the balances and the positioning deviations of the handles in the cross-section. Thus, for beams with standardized cross-section I, displacements, stresses and angles of rotation for different balance lengths and lateral deviations of the handles are evaluated. The results of the numerical studies show that lifting conditions are safer when the handling is performed with balances and with handles in the opposite direction to the curvature. Furthermore, the favorable effect of dislocating down the center of gravity reduces by 15% the displacements and tensions, and induces a decrease up to 25% in the value of the rotation of the beam, in the most critical situation without balances and with unfavorable deviations of the lift loops. The increase in the initial lateral eccentricity should be observed with caution, which may increase tensions up to 30% in critical cases without balances.

Mutations in the NR5A1 gene, which encodes the steroidogenic factor 1 (SF1), are responsible for different phenotypes of disorders of sex development (DSD), such as bilateral anorchia and hypospadias. Furthermore, they can be associated with primary amenorrhea, premature ovarian failure, male infertility, adrenal tumors, and endometriosis. Direct sequencing of the 7 NR5A1 exons including ∼1,000 bp of the 5′-upstream and 3′-downstream regions and all intron-exon boundaries was performed in patients with DSD. Three different in silico tools were used to assess the consequences of a splice site mutation. As a result, 3 novel NR5A1 mutations were identified in 3 patients with 46,XY partial gonadal dysgenesis: p.Lys38* and p.Leu80Trpfs*8 lead to premature translation termination codons within the SF1 DNA-binding domain, and the intronic nucleotide substitution c.1138+1G>T at the intron 6 donor splice site is considered to modify correct splicing. We assume that the anomalous mRNA produced as a result of p.Lys38* and p.Leu80Trpfs*8 will be degraded by nonsense-mediated mRNA decay even before translation, leading to SF1 haploinsufficiency. The c.1138+1G>T mutation is expected to produce a truncated protein. Heterozygous SF1 loss-of-function mutations in these cases resulted in mild DSD manifestations, such as dysgenetic testes, spontaneous puberty, and preserved adrenal function.

Amphibians are among the most threatened vertebrates in the world and this is also true for those inhabiting the Atlantic Forest hotspot, living in ecosystems that are highly degraded and threatened by anthropogenic activities. We present a data set containing information about amphibian communities sampled throughout the Atlantic Forest Biome in South America. The data were extracted from 389 bibliographic references (articles, books, theses, and dissertations) representing inventories of amphibian communities from 1940 to 2017. The data set includes 17,619 records of 528 species with taxonomic certainty, from 1,163 study sites. Of all the records, 14,450 (82%) were classified using the criterion of endemism; of those, 7,787 (44%) were considered endemic and 6,663 (38%) were not. Historically, multiple sampling methods were used to survey amphibians, the most representative methods being active surveys (82.1%), surveys at breeding sites (20%), pitfall traps (15.3%), and occasional encounters (14.5%). Species richness averaged 15.2 ± 11.3 (mean ± SD), ranging from 1 to 80 species per site. We found a low dominance in the communities, with 10 species occurring in about 26% of communities: Physalaemus cuvieri (4.1%), Dendropsophus minutus (3.8%), Boana faber (3.1%), Scinax fuscovarius (2.8%), Leptodactylus latrans (2.7%), Leptodactylus fuscus (2.6%), Boana albopunctata (2.3%), Dendropsophus nanus (1.6%), Rhinella ornata (1.6%), and Leptodactylus mystacinus (1.6%). This data set represents a major effort to compile inventories of amphibian communities for the Neotropical region, filling a large gap in the data on the Atlantic Forest hotspot. We hope this data set can be used as a credible tool in the proposal of new studies on amphibian sampling and even in the development of conservation planning for these taxa. This information also has great relevance for macroecological studies, being foundational for both conservation and restoration strategies in this biodiversity hotspot. No copyright or proprietary restrictions are associated with the use of this data set. Please cite this data paper when the data are used in publications or teaching events.

Steroidogenic factor-1 (SF1), encoded by the NR5A1 gene, is a key regulator of steroidogenesis and reproductive development. NR5A1 mutations described in 46,XY patients with disorders of sex development (DSD) can be associated with a range of conditions of phenotypes; however, the genotype-phenotype correlation remains elusive in many cases. In the present study, we describe the impact of five NR5A1 variants (three novel: p.Arg39Cys, p.Ser32Asn, and p.Lys396Argfs*34; and two previously described: p.Cys65Tyr and p.Cys247*) on protein function, identified in seven patients with 46,XY DSD. In vitro functional analyses demonstrate that NR5A1 mutations impair protein functions and result in the DSD phenotype observed in our patients. Missense mutations in the DNA binding domain and the frameshift mutation p.Lys396Argfs*34 lead to both, markedly affected transactivation assays, and loss of DNA binding, whereas the mutation p.Cys247* retained partial transactivation capacity and the ability to bind a consensus SF1 responsive element. SF1 acts in a dose-dependent manner and regulates a cascade of genes involved in the sex determination and steroidogenesis, but in most cases reported so far, still lead to a sufficient adrenal steroidogenesis and function, just like in our cases, in which heterozygous mutations are associated to 46,XY DSD with intact adrenal steroid biosynthesis.

Objetivo: Verificar se a hibridização in situ por fluorescência (FISH) em células de mucosa oral poderia ser empregada para detectar criptomosaicismo com linhagem 45,X em pacientes 46,XY. Sujeitos e métodos: Amostra de 19 jovens saudáveis 46,XY e cinco pacientes com distúrbios da diferenciação do sexo (DDS), quatro 45,X/46,XY e um 46,XY. FISH com sondas específicas para X e Y em núcleos interfásicos de linfócitos e mucosa oral para investigar a proporção de núcleos contendo apenas o sinal do cromossomo X. Resultados: A frequência de núcleos contendo apenas o sinal do X nos dois tecidos dos homens saudáveis não diferiu (p = 0,69). Em todos os pacientes com DDS essa frequência foi significativamente maior, e também não houve diferença entre os dois tecidos (p = 0,38). Conclusões: A investigação de mosaicismo com linhagem 45,X em pacientes com DDS 46,XY ou esterilidade pode ser feita por FISH diretamente em células de mucosa oral. Objective: To verify whether fluorescence in situ hybridization (FISH) of cells from the buccal epithelium could be employed to detect cryptomosaicism with a 45,X lineage in 46,XY patients. Subjects and methods: Samples of nineteen 46,XY healthy young men and five patients with disorders of sex development (DSD), four 45,X/46,XY and one 46,XY were used. FISH analysis with X and Y specific probes on interphase nuclei from blood lymphocytes and buccal epithelium were analyzed to investigate the proportion of nuclei containing only the signal of the X chromosome. Results: The frequency of nuclei containing only the X signal in the two tissues of healthy men did not differ (p = 0.69). In all patients with DSD this frequency was significantly higher, and there was no difference between the two tissues (p = 0.38), either. Conclusions: Investigation of mosaicism with a 45,X cell line in patients with 46,XY DSD or sterility can be done by FISH directly using cells from the buccal epithelium.

Evidence suggests that task-specific gait training improves locomotor impairments in people with incomplete spinal cord injury (SCI); however, plastic changes in brain areas remain poorly understood. The aim of this study was to examine the possible effects of a task-specific overground gait training on locomotor recovery and neuroplasticity markers in the cortex, cerebellum, and lumbar spinal cord in an experimental model of incomplete-SCI.Using a blind, basic experimental design, 24 adult Wistar rats underwent a surgical procedure and were allocated into sham, non-trained SCI (SCI), and trained SCI (Tr-SCI) groups. On postoperative day 14, trained animals started a 4-week overground gait training program. All groups were subjected to weekly assessment of locomotor recovery of the hind limbs. On postoperative day 40, brain and lumbar spinal cord structures were dissected and processed for biochemical analysis of the synaptophysin, microtubule-associated protein 2 (MAP-2), and brain-derived neurotrophic factor (BDNF).Tr-SCI group showed greater locomotor function recovery compared with non-trained SCI from the postoperative day 21 (p 0.05). The training was able to improve the neuroplasticity markers synaptophysin, MAP-2, and BDNF expressions in motor cortex (p 0.05), but not in the cerebellum and in the spinal cord for trained SCI group compared to non-trained.Task-specific overground gait training improves locomotor recovery in a rat model of incomplete thoracic-SCI. Furthermore, training promotes motor cortex plasticity, evidenced for increasing expression of the neuroplasticity markers that may support the functional recovery.

One of the main products extracted from seeds is the oil, which have great importance in human food. They help in the absorption of fat-soluble vitamins and antioxidants. The oil extraction process can be carried out in different ways, being one of them the solvent extraction. Ethanol is a solvent with the potential to replace hexane, which is a renewable and non-toxic solvent. However, the oil shows low solubility in ethanol, and it is important to study cosolvents that may improve the solubility and yield of the oil extraction. A response surface methodology (RSM) was applied to optimize the ethanolic extraction using cosolvents. The soluble solids yield and the retention index from pequi and murici seeds extraction using ethanol and cosolvents (hexane and isopropanol) were estimated. Soluble solids greatest recovery was with 10% of each cosolvent at 45 °C, for both pequi and murici seeds. The low retention index obtained represents a greater efficiency in the extraction process, however, the empirical model did not describe this variable for murici seeds; and it was independent from the cosolvents mass fraction concerning the pequi almonds. Temperature was a parameter with high influence on the recovery of soluble solids and retention index of pequi and murici seeds solid-liquid extraction process. This paper provides a comprehensive approach to murici and pequi seeds waste oil production from an industrial perspective, by using biorenewable solvents, such as ethanol.

A região Noroeste é a mais desmatada e com menor concentração de Unidades de Conservação do estado de São Paulo. Apesar dos avanços científicos recentes, ainda existem lacunas de conhecimento de herpetofauna. O presente estudo teve como objetivo fornecer informações sobre riqueza, abundância e uso do habitat dos répteis da Fazenda Cambuhy, que abrange os municípios de Matão, Nova Europa e Tabatinga. As amostragens ocorreram entre os anos de 2013 a 2015, utilizando-se quatro metodologias: armadilhas de interceptação e queda, procura visual limitada por tempo, procura em estradas e encontros ocasionais. Foram incluídos também os registros disponíveis em coleções científicas e na literatura. Foram registradas 46 espécies de répteis pertencentes aos grupos Squamata e Crocodylia. As espécies mais frequentes foram Salvator merianae (N = 55), espécie mais abundante em todos os ambientes amostrados, Notomabuya frenata (N = 14), amostrada somente nas florestas e Ameiva ameiva (N = 4), registrada nos ambientes antrópicos e florestais. A composição de espécies registrada reflete o posicionamento da área de estudo, apresentando a maioria das espécies associadas aos biomas Cerrado e Mata Atlântica. A riqueza de répteis da Fazenda Cambuhy representa 21% da riqueza de répteis do estado, sendo de grande significância para conservação da herpetofauna da região Noroeste do estado de São Paulo. In São Paulo State, the northwestern region is the most deforested and has the lowest concentration of protected areas. Despite recent scientific advances, there are still gaps in the herpetological knowledge for this region. The objective of the present study was to provide information about richness, abundance and habitat use of reptiles on Cambuhy Farm, which is in the municipalities of Matão, Nova Europa, and Tabatinga. Sampling occurred from 2013 to 2015, and used four methods: pitfall traps, visual search limited by time, visual search on roads and occasional records. The study also included records from the literature and biological collections. We recorded 46 species of reptiles belonging to the Squamata and Crocodylia groups. The most common species were Salvator merianae (N = 55), the most abundant species in all study sites, Notomabuya frenata (N = 14), sampled only in the forests, and Ameiva ameiva (N = 4) that was recorded in anthropic and forest environments. The species composition recorded reflects the location of the study area, with the majority of species associated with the Cerrado and Atlantic Forest biomes. The richness of reptiles on Cambuhy Farm represents 21% of the richness in São Paulo, and is of great significance for the conservation of the herpetofauna in the northwestern region of the state.

Adipose tissue-derived stem cells (ASCs) are among the more attractive adult stem cell options for potential therapeutic applications. Here, we studied and compared the basic biological characteristics of ASCs isolated from humans (hASCs) and mice (mASCs) and maintained in identical culture conditions, which must be examined prior to considering further potential clinical applications. hASCs and mASCs were compared for immunophenotype, differentiation potential, cell growth characteristics, senescence, nuclear morphology, and DNA content. Although both strains of ASCs displayed a similar immunophenotype, the percentage of CD73(+) cells was markedly lower and CD31(+) was higher in mASC than in hASC cultures. The mean population doubling time was 98.08 ± 6.15 h for hASCs and 52.58 ± 3.74 h for mASCs. The frequency of nuclear aberrations was noticeably lower in hASCs than in mASCs regardless of the passage number. Moreover, as the cells went through several in vitro passages, mASCs showed changes in DNA content and cell cycle kinetics (frequency of hypodiploid, G0/G1, G2/M, and hyperdiploid cells), whereas all of these parameters remained constant in hASCs. Collectively, these results suggest that mASCs display higher proliferative capacity and are more unstable than hASCs in long-term cultures. These results underscore the need to consider specificities among model systems that may influence outcomes when designing potential human applications.

The non-native invasive anuran Lithobates catesbeianus is presently distributed in Brazil, especially in the Atlantic Rainforest biodiversity hotspot. Here, we use a maximum entropy ecological niche modeling algorithm (i) to model the North American native geographic distribution of this species and (ii) to project that model onto the whole of Brazil. After applying a threshold value that balances commission and omission errors, the projection results suggested high probabilities of occurrence mostly in southern and southeastern Brazil. We also present the first report on the species known distribution in Brazil, showing good agreement with model predictions. If the predictive map is interpreted as depicting invasiveness potential of L. catesbeianus, strategies to prevent further invasion in Brazil should be focused especially in the Atlantic Rainforest biodiversity hotspot.

Background: The capuchin monkey (Sapajus apella) and the night monkey (Aotus azarae infulatus) are primates with broad distribution in South America. Sapajus apella is best-studied species in the genus Cebus, and is commonly found in captivity in parks, zoos, and sorting centers in Brazil. Species in the genus Aotus have a primitive appearance with large eye sockets, and their nocturnal habits are unique among the apes today. Because these two species belong to the same order, they have similar morphological characteristics. In this work, we conduct a comparative study of the forelimb musculature between these two species to produce data for use in veterinary procedures.Materials, Methods & Results: Three capuchin monkey and three night monkey specimens were used, two females and one male for each species. Specimens were acquired from the National Center for Primates under approval from the Animal Research (CEPAN/IEC/SVS/MS) No. 008/2010. Specimens were frozen and donated after death by natural causes to the LaPMA (Animal Morphology Research Laboratory) at the Federal Rural University of Amazonia (UFRA). After being thawed in running water, the animals were fixed by intramuscular injection with 10% formaldehyde in aqueous solution and dissected to display thoracic limb muscle groups. Dissections were performed using basic instrumentation by creating a medial incision from the carpal region to the axillary region. After incision, the skin was folded and muscles were separated in order to identify muscle groups. The nomenclature adopted was based on the veterinary anatomy, and books about human anatomy for comparison of forearm muscles. The muscles that compound the shoulder was the supraspinal and infra-spinal. The arm was composed by the teres major and minor, the triceps brachii (long head, lateral head, and medial head), brachialis, biceps brachii, tensor muscle of the antebrachial fascia, coracobrachialis, and anconeous. The forearm included the extensor carpi radialis longus, extensor carpi radialis brevis, extensor digitorus, extensor digiti minimum, extensor carpi ulnaris, abductor pollicis longus, extensor pollicis brevis, flexor carpi ulnaris, flexor digitorum profundus, flexor digitorum superficialis, flexor carpi radialis, flexor pollicis longus, extensor carpi radialis brevis, and brachioradialis muscles. In general, the two species have the same muscle groups, except for the absence of the teres minor and brachioradialis in Capuchin monkey, and the absence of the long head of the triceps brachii and extensor carpi radialis brevis at night monkey.Discussion: The forelimb musculature in the capuchin and night monkey is similar that described in the literature for both domestic and wild species such as coati, paca, and bush dogs, with little variation among the studied species. Regarding the muscles of the forearm, the capuchin monkey and the night monkey have muscular anatomy similar to that of humans, with some variations. The anatomical variations in common traits do not impede function. Interspecific variation is a common occurrence in nature, and can be explained by species divergence which occurs over many years, for various reasons. Knowledge of the comparative miology of the capuchin monkey and the night monkey is still nascent, thus future research is needed to better understand the structure of these animals, which can then serve as a basis for studies of other ethological aspects of the species biology.

Este estudo teve como objetivos descrever o ciclo gametogênico e o comportamento reprodutivo da população de Iphigenia brasiliana (Lamarck,1818) no estuário do rio Subaé, Baía de Todos os Santos, Bahia. Os bivalves foram coletados de novembro de 2001 a novembro de 2002. Um total de 244 espécimes foi medido (eixo anteroposterior), eviscerado, fixado, desidratado e incluído em parafina. O estudo histológico das gônadas foi realizado através de cortes seriados do tecido gonadal, de 5 mm de espessura, e corados pela HE. O tamanho médio mínimo da primeira maturação sexual (Lpm) foi estimado a partir da distribuição das frequências relativas de jovens e adultos, por classe de comprimento dos indivíduos. As frequências relativas dos sexos em cada estádio de desenvolvimento foram consideradas conjuntamente para a análise do comportamento reprodutivo da população, e, em separado, para avaliar a sincronia do ciclo sexual entre machos e fêmeas. Foi observada uma variação de tamanhos entre 9,1 e 66,6 mm, com comprimento médio de 50,2 mm. O estudo não demonstrou diferença significativa entre os tamanhos de machos e fêmeas. Não foi possível observar a diferenciação de sexos em 2,1% dos indivíduos analisados. 51,6% dos indivíduos foram identificados como machos (M) e 46,3% como fêmeas (F), não sendo constatadas diferenças significativas entre o número médio de machos e fêmeas, resultando numa proporção de M:F de 1,1:1. O Lpm foi estimado em 11,4 mm, mas apenas ao alcançarem comprimento médio de 34,4 mm, todos os indivíduos foram considerados adultos. Foram caracterizados quatro estádios de evolução do desenvolvimento gonadal em fêmeas e machos. A análise dos diferentes estádios permitiu a observação dos fenômenos de atresia e inversão sexual em fêmeas. O ciclo reprodutivo apresentou eliminação contínua de gametas, com maiores intensidades reprodutivas nos meses de novembro de 2001 a abril de 2002 e, também, no mês de outubro de 2002. This study aimed to describe the gametogenic cycle and reproductive behavior of the population of Iphigenia brasiliana (Lamarck, 1818) in the estuary of the Subaé river, Todos os Santos Bay, Bahia. The bivalves were collected from November 2001 to November 2002. A total of 244 specimens was measured (anteroposterior axis), gutted, fixed, dehydrated and embedded in paraffin. The histology of the gonads was performed by 5 mm thick serial sections of gonadal tissue, and stained with HE. The length at the beginning of gonadal maturation (Lpm) was estimated from the distribution of the relative frequencies of youth and adults, by length class of individuals. The relative frequencies of the sexes at each stage of development were considered together for the analysis of the reproductive behavior of the population, and, separately, to assess the sexual cycle synchrony between males and females. We observed a variation of sizes between 9.1 and 66.6 mm, with a mean length of 50.2 mm. The study showed no significant difference between the sizes of males and females. There was no evidence of gender differentiation in 2.1% of subjects analyzed. 51.6% of subjects were identified as males (M) and 46.3% as females (F), without significant differences among average number of male and female, resulting in the proportion of M:F ratio of 1,1:1. Lpm was estimated at 11.4 mm, but only to achieve average length of 34.4 mm, all subjects were considered adults. We characterized four stages of evolution of gonadal development in females and males. Analysis of different stages allowed the observation of the atresia phenomena and sex reversal in females. The reproductive cycle presents continuous elimination of gametes, with higher reproductive intensities in the months of November 2001 to April 2002 and also in October 2002.

FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old 46,XY girl with normal female genitalia referred to our service because of short stature. FISH analysis of lymphocytes with probes for the X and Y centromeres identified a 45,X/46,X,idic(Y) constitution, and established the diagnosis of Turner syndrome. Case 2 was a 21-month-old 46,XY boy with genital ambiguity (penile hypospadias, right testis, and left streak gonad). FISH analysis of lymphocytes and buccal smear identified a 45,X/46,XY karyotype, leading to diagnosis of mixed gonadal dysgenesis. Case 3 was a 47,XYY 19-year-old boy with delayed neuromotor development, learning disabilities, psychological problems, tall stature, small testes, elevated gonadotropins, and azoospermia. FISH analysis of lymphocytes and buccal smear identified a 47,XYY/48,XXYY constitution. Cases 1 and 2 illustrate the phenotypic variability of the 45,X/46,XY mosaicism, and the importance of detection of the 45,X cell line for proper management and follow-up. In case 3, abnormal gonadal function could be explained by the 48,XXYY cell line. The use of FISH in clinical practice is particularly relevant when classical cytogenetic analysis yields normal or uncertain results in patients with features of sex chromosome aneuploidy. Arq Bras Endocrinol Metab. 2012;56(8):545-51 FISH tem sido usado como um complemento para a citogenética clássica na detecção de mosaicismo em anomalias de cromossomos sexuais. O objetivo deste trabalho é descrever três casos nos quais o diagnóstico final só foi obtido por meio de FISH. O caso 1 é uma menina de 8 anos, 46,XY, com genitália feminina normal, encaminhada ao nosso setor devido à baixa estatura. A análise de linfócitos por FISH com sondas centroméricas de X e Y identificou a constituição 45,X/46,X,idic(Y) e estabeleceu o diagnóstico de síndrome de Turner. O caso 2 é um menino de 21 meses, 46,XY, com ambiguidade genital (hipospadia peniana, testículo à direita e gônada disgenética à esquerda). FISH de linfócitos e mucosa oral identificou o cariótipo 45,X/46,XY, levando ao diagnóstico de disgenesia gonadal mista. O caso 3 é um rapaz de 19 anos, 47,XYY, com atraso de desenvolvimento neuromotor, dificuldade de aprendizado, problemas psicológicos, alta estatura, testículos pequenos, gonadotrofinas elevadas e azoospermia. FISH de linfócitos e mucosa oral identificou a constituição 47,XYY/48,XXYY. Os casos 1 e 2 ilustram a variabilidade fenotípica do mosaico 45,X/46,XY e a importância da detecção da linhagem 45,X na avaliação e na condução dos casos. No caso 3, a função gonadal anormal pôde ser explicada pela linhagem 48,XXYY. O uso de FISH na prática clínica é particularmente relevante quando a análise citogenética clássica traz resultados normais ou incertos em pacientes com quadro sugestivo de uma aneuploidia de cromossomos sexuais. Arq Bras Endocrinol Metab. 2012;56(8):545-51

Submitted by Guilherme Lemeszenski (guilherme@nead.unesp.br) on 2013-08-22T18:43:13Z No. of bitstreams: 1 S1676-06032011000500004.pdf: 1376920 bytes, checksum: f705a230fc5a74f7c108bfffbbe86d11 (MD5) Made available in DSpace on 2013-08-22T18:43:13Z (GMT). No. of bitstreams: 1 S1676-06032011000500004.pdf: 1376920 bytes, checksum: f705a230fc5a74f7c108bfffbbe86d11 (MD5) Previous issue date: 2011-12-01 Made available in DSpace on 2013-09-30T19:30:48Z (GMT). No. of bitstreams: 2 S1676-06032011000500004.pdf: 1376920 bytes, checksum: f705a230fc5a74f7c108bfffbbe86d11 (MD5) S1676-06032011000500004.pdf.txt: 113926 bytes, checksum: 0bf2ec0386240506198c15aa01609d3a (MD5) Previous issue date: 2011-12-01 Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-20T14:03:29Z No. of bitstreams: 2 S1676-06032011000500004.pdf: 1376920 bytes, checksum: f705a230fc5a74f7c108bfffbbe86d11 (MD5) S1676-06032011000500004.pdf.txt: 113926 bytes, checksum: 0bf2ec0386240506198c15aa01609d3a (MD5) Made available in DSpace on 2014-05-20T14:03:29Z (GMT). No. of bitstreams: 2 S1676-06032011000500004.pdf: 1376920 bytes, checksum: f705a230fc5a74f7c108bfffbbe86d11 (MD5) S1676-06032011000500004.pdf.txt: 113926 bytes, checksum: 0bf2ec0386240506198c15aa01609d3a (MD5) Previous issue date: 2011-12-01 Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) A última lista de espécies do Estado de São Paulo foi atualizada, totalizando 236 espécies de anfíbios, das quais 230 são anuros e seis são Gymnophiona. Foram removidos da lista Bokermannohyla gouveai e Sphaenorhynchus surdus por não ocorrerem no Estado de São Paulo. O número de espécies de anuros registrado representa 27% da riqueza de espécies do país e um aumento de 31% em relação ao número de espécies registradas para o Estado em 1998, demonstrando que, a despeito do Estado de São Paulo ser a região brasileira onde os anuros foram mais estudados, o número de espécies conhecidas deve aumentar nos próximos anos. Foram evidenciadas duas lacunas geográficas importantes: a região sudoeste do Estado, principalmente na bacia hidrográfica do rio Paranapanema e a região nordeste, principalmente na divisa entre os Estados de Minas Gerais e São Paulo. Apesar de ambas terem sido amostradas recentemente, ainda há carência de informações. O estado atual do conhecimento e perspectivas nas áreas de taxonomia, sistemática, ecologia e conservação são avaliados. The last list of species of the state of São Paulo State was updated and totaled 236 species of amphibians, 230 of which are anurans and six are caecilians. Bokermannohyla gouveai and Sphaenorhynchus surdus were removed from this list, because they did not occur in the State of São Paulo. The number of anuran species recorded comprise 27% of the species richness of the country and an increase by 31% in the number of species recorded for the state since 1998. Thus, despite the State of São Paulo be the Brazilian region where the anurans have been most studied, these data show that the number of known species tends to increase in the next years. We have identified two major geographical gaps of inventory: the southwest of the state, especially in the Paranapanema river basin and the northeast region, mainly at the border between the States of Minas Gerais and São Paulo. Although both have been sampled recently, information is still lacking. The current state of knowledge and perspectives in the areas such as taxonomy, systematics, ecology and conservation are evaluated. Universidade Estadual Paulista Universidade Federal de São Paulo (UNIFESP) Departamento de Ciências Biológicas Universidade de São Paulo Escola de Artes, Ciências e Humanidades, Gestão Ambiental Universidade Estadual Paulista

The aim of this study was to investigate the frequency of gonadal tumors among patients with Turner syndrome (TS) carrying Y-derivative sequences in their chromosomal constitution.Six out of 260 patients with TS were selected based on mosaicism of the entire Y chromosome; 10 were included because Y-derivative sequences have been detected by PCR with specific oligonucleotides (sex-determining region on the Y, testis specific-protein, Y and DYZ3) and further confirmed by FISH. The 16 patients were subjected to bilateral gonadectomy at ages varying from 8.7 to 18.2 years. Both histopathological investigation with hematoxylin and eosin (HE) and immunohistochemical analysis with anti-octamer-binding transcription factor 4 (OCT4) antibody were performed.Gonadal neoplasia was not detected in any of the 32 gonads evaluated by HE; however, four gonads (12%) from three patients (19%) had positive OCT4 staining in 50-80% of nuclei, suggesting the existence of germ cell tumors (gonadoblastoma or in situ carcinoma).Evaluation of the real risk of development of gonadal tumors in TS patients with Y-derivative sequences in their chromosomal constitution may require a specific histopathological study, such as immunohistochemistry with OCT4.

The geographic distribution of Leptodactylus furnarius Sazima and Bokermann, 1978 comprises Argentina, Brazil (southern, southeastern, and west-central regions), Paraguay, and Uruguay. Herein, we report for the first time the occurrence of L. furnarius in northeastern and north regions of Brazil, at the states of Bahia and Tocantins, respectively.

Background Partial and mixed gonadal dysgenesis (PGD and MGD) are characterized by genital ambiguity and the finding of either a streak gonad and a dysgenetic testis or two dysgenetic testes. The karyotype in PGD is 46,XY, whereas a 45,X/46,XY mosaicism or its variants (more than two lineages and/or structural abnormalities of the Y chromosome) is generally found in MGD. Such mosaics are also compatible with female phenotype and Turner syndrome, ovotesticular disorder of sex development, and infertility in men with normal external genitalia. During the last few years, evidences of a linkage between Y microdeletions and 45,X mosaicism have been reported. There are also indications that the instability caused by such deletions might be more significant in germ cells. The aim of this work was to investigate the presence of Y chromosome microdeletions in individuals with PGD and in those with 45,X/46,XY mosaicism or its variants and variable phenotypes. Methods Our sample comprised 13 individuals with PGD and 15 with mosaicism, most of them with a MGD phenotype (n = 11). Thirty-six sequence tagged sites (STS) spanning the male specific region (MSY) on the Y chromosome (Yp, centromere and Yq) were analyzed by multiplex PCR and some individual reactions. Results All STS showed positive amplifications in the PGD group. Conversely, in the group with mosaicism, six individuals with MGD had been identified with Yq microdeletions, two of them without structural abnormalities of the Y chromosome by routine cytogenetic analysis. The deleted STSs were located within AZFb and AZFc (Azoospermia Factor) regions, which harbor several genes responsible for spermatogenesis. Conclusions Absence of deletions in individuals with PGD does not confirm the hypothesis that instability of the Y chromosome in the gonads could be one of the causes of such condition. However, deletions identified in the second group indicate that mosaicism may be associated with Y chromosome abnormalities detectable only at the molecular level. If patients with mosaicism and Y microdeletions reared as males decide to undergo in vitro fertilization, Y chromosomes which tend to be unstable during cell division may be transmitted to offspring.

The objective of this study was to describe the change in diagnosis and prognosis of a child with testicular dysgenesis and 46,XY karyotype after detection of a 45,X cell line and to discuss the difficulties caused by the terms mixed gonadal dysgenesis (MGD) and XY partial gonadal dysgenesis (XYPGD). One case was reported including clinical and laboratory findings of a child of 41-day-old infant with 1.3-cm phallus, penoscrotal hypospadias and left prepubertal testis. Karyotype 46,XY (16 cells), normal hormone levels. Right streak gonad, epididymis and müllerian remnants were removed; initial diagnosis was XYPGD. Persistent growth retardation led to further cytogenetic analysis (50 cells) and detection of a 45,X cell line. Detection of a 45,X lineage changed both the diagnosis to MGD and also the prognosis.The number of cells analyzed in karyotyping is critical. Use of MGD and XYPGD to designate both a histological picture and a syndromic diagnosis, results in lack of emphasis on clinical differences between 46,XY and 45,X/46,XY subjects.