A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family

Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound heterozygosity with a c.35delG mutation, in two Brazilian sibs, one presenting mild and the other profound nonsyndromic neurosensorial hearing impairment. Their father, who carried a wild-type allele and a p.L76P mutation, had normal hearing. The mutation leads to the substitution of leucine (L) by proline (P) at residue 76, an evolutionarily conserved position in Cx26 as well as in other connexins. This mutation is predicted to affect the first extracellular domain (EC1) or the second transmembrane domain (TM2). EC1 is important for connexon-connexon interaction and for the control of channel voltage gating. The segregation of the c.227C>T (p.L76P) mutation together with c.35delG in this family indicates a recessive mode of inheritance. The association between the p.L76P mutation and hearing impairment is further supported by its absence in a normal hearing control group of 100 individuals, 50 European-Brazilians and 50 African-Brazilians.

Sex ratio and morphological characteristics of rufous gnateaters, Conopophaga lineata (Aves, Passeriformes) in Atlantic forest fragments

Unequal sex ratios lead to the loss of genetic variability, decreasing the viability of populations in the long term. Anthropogenic activities often disturb the natural habitats and can cause alterations in sex ratio and morphological characteristics of several species. Forest fragmentation is a major conservation concern, so that understanding its effects in natural populations is essential. In this study, we evaluated the sex ratio and the morphological characteristics of Rufous Gnateaters (Conopophaga lineata (Wied, 1831)) in small and large forest fragments in Minas Gerais, Brazil. Birds (n = 89) were sexed by plumage characteristics and molecular markers. The molecular analysis showed that plumage is not a totally reliable method for sexing Rufous Gnateaters. We observed that sex ratio did not differ between large and small forest fragments, but birds in small fragments had larger wings and tarsus. Wing and tarsus changes may affect the movement ability of individuals within and among forest fragments. In conclusion, Rufous Gnateaters have been able to survive in both small and large Atlantic rain forest fragments without altering their sex ratio, but morphological changes can be prejudicial to their long term survival.

The Southern Brazilian shelf: general characteristics, quaternary evolution and sediment distribution

Extending from latitude 34ºS to 22ºS the Southern Brazilian shelf constitutes the only part of the Brazilian shelf with a subtropical to temperate environment. The studies on the different geological aspects of the area began in the 1960's and have recently been reassessed after studies related to the determination of the Economic Exclusive Zone. In terms of morphology, the Southern Brazilian shelf may be divided into three sectors, the São Paulo Bight, the Florianópolis-Mostardas Sector and the Rio Grande Cone, characterized by conspicuous differences in terms of geological determining factors, bathymetry, declivities and the presence of canyons and channels. Despite the existence of hundreds of radiocarbon datings the sea level changes curve of southern Brazil during the Last Glacial Cycle is still a matter of debate. A recent controversy on the Middle and late Holocene sea level changes curve raised the question of the amplitude of the oscillations which occurred in the period. Also, a few but relatively consistent radiocarbon datings suggest the occurrence of a high sea level during Isotope Stage 3. In terms of sedimentary cover the Southern Brazilian shelf exhibits a very strong hydrodynamic control, both latitudinal and bathymetrical. The sector southward from 25ºS is characterized by the influence of the plume of water carrying sediments originating from the Río de La Plata. Actually its presence is conspicuous up to 28ºS, with the area between this latitude and 25ºS constituting a transitional zone. In terms of bathymetry the outer shelf is marked by the "floor-polisher" effect of the Brazil Current, which is responsible for the maintenance of a relict facies in areas deeper than 100 meters.

A descriptive analysis of the seasonal variation of physical oceanographic characteristics in the northern region of the Todos os Santos Bay (Bahia, Brazil)

The results obtained in the August and December 2003, August 2004 and January 2005 oceanographic campaigns in the northern region of the Todos os Santos Bay (lat. 12º44.5'S; long. 038º35.00'W) between the Madre de Deus and Maré islands are analyzed. Instruments of continuous and discrete samplings were used to measure hydrographic properties currents and tides. The water mass of the northern region of the bay is forced by semidiurnal and mesotides of form number 0.08 and the lunar component M2 height was estimated at 91cm. The time series of the surface currents indicated movements in the N/S direction, forced by the tide with maximum magnitudes of 0.73 m.s-1 on the December 2003 campaign. However, in August 2004 the currents were dominated by the wind stress forcing, with a maximum speed of 1.85 m.s-1 and SE direction. Near the bottom, the influence of the tide is not as evident, with a decrease in intensity due to internal and bottom friction, with a maximum velocity of 0.17 m.s-1. The thermal and haline structures were weakly horizontally, as well as vertically stratified, with extreme values varying in the intervals 23ºC (August, 2004) to 28ºC (December, 2003) and 31.0 psu (August, 2003) to 36.0 psu (December, 2003), respectively. Some conclusions may be drawn from these results: i) The signs of the dilution of the fresh water discharges of the Caípe, Mataripe and São Paulo rivers in the region under the influence of the RLAM were observed only during the winter periods, but in the summer the region was flooded by waters of oceanic origin and the salinities above 36.0 indicated TW mass intrusion; ii) The N-S circulation near the RLAM is strongly dominated by the tide, and the importance of the M2 component was unequivocal, however, the E-W component presented some tidal modulation away from abrupt bottom topographical changes, and iii) The residual series, calculated as the difference between the original and modeled, is about ¼ of the original and confirmed its semidiurnal character.

A new species of Baurusuchus (Crocodyliformes, Mesoeucrocodylia) from the Upper Cretaceous of Brazil, with the first complete postcranial skeleton described for the family Baurusuchidae

The present work describes a new species of Baurusuchidae from Upper Cretaceous sediments of the Bauru Basin, and provides the first complete postcranial description for the family. Many postcranial features observed in the new species are also present in other notosuchian taxa, and are thus considered plesiomorphic for the genus. These are: long cervical neural spines; robust deltopectoral crest of the humerus; large proximal portion in the radiale that contacts the ulna; ulnare anterior distal projection; supra-acetabular crest well developed laterally; post-acetabular process posterodorsally deflected; presence of an anteromedial crest in the femur; fourth trocanter of femur posteriorly positioned; tibia with a laterally curved shaft; calcaneum tuber posteroventrally oriented; osteoderms ornamented with grooves and imbricated in the tail. On the other hand, we found the following sacral and carpal features to be unique among all mesoeucrocodylians analyzed: transverse processes of sacral vertebrae dorsolaterally deflected; presence of a longitudinal crest in the lateral surface of sacral vertebrae; pisiform carpal with a condyle-like surface. The majority of these cited features corroborates a cursorial locomotion for the new species described in the present study, suggesting that members of the family Baurusuchidae were also cursorial species.

New species of thorny catfish, genus Leptodoras Boulenger (Siluriformes: Doradidae), from Tapajós and Xingu basins, Brazil

A new species of thorny catfish (family Doradidae) is described as a member of genus Leptodoras Boulenger by having a modified oral hood and first gill arch with enlarged accessory lamellae extending well onto medial face of gill filaments. The new species is distinguished by three characteristics unique within Leptodoras: gas bladder moderately sized (not reduced) with simple walls (diverticula absent), and paired bony capsules on anteriormost vertebrae reduced to paired cup-like laminar ossifications separated by triangular septum. The new species was discovered from material recently collected in the Tapajós basin at Serra do Cachimbo and in the headwaters of rio Xingu. The species description is supplemented by a detailed osteological description, discussion on its placement among congeners, and a re-evaluation of the diagnosis of Leptodoras and its relationships with sister taxon Anduzedoras oxyrhynchus. In addition, the distributions of several species of Leptodoras are expanded based on recent collecting efforts and identification of museum specimens not previously studied.

Trichopeltariidae (Crustacea, Decapoda, Brachyura), a new family and superfamily of eubrachyuran crabs with description of one new genus and five new species

A new family, Trichopeltariidae, is proposed to accommodate Sphaeropeltarion edentatum, new genus and species, and four additional genera traditionally placed in the family Atelecyclidae: Trichopeltarion A. Milne-Edwards, 1880 (type genus); Peltarion Hombron & Jacquinot, 1846; Podocatactes Ortmann, 1893; and Pteropeltarion Dell, 1972. Additionally, four new species of Trichopeltarion are described and illustrated. The new family exhibits characters of neither superfamilies of the Section Eubrachyura and is assigned to its own superfamily, Trichopeltarioidea nov. Keys to the genera of Trichopeltariidae fam. nov. and to all species in the family are presented (species of Trichopeltarion excepted). Six new combinations are proposed or confirmed. The genus Krunopeltarion Števčić, 1993, is merged into the synonymy of Trichopeltarion. A lectotype is selected for Trichopeltarion corallinum (Faxon, 1893).

Poluição da queima de cana e sintomas respiratórios em escolares de Monte Aprazível, SP

OBJETIVO: Estimar a prevalência de sintomas respiratórios e analisar fatores associados, bem como medidas de pico de fluxo expiratório em escolares. MÉTODOS: Estudo descritivo transversal com escolares de dez a 14 anos de Monte Aprazível, SP. Foram aplicados questionários sobre sintomas de asma e de rinite do protocolo International Study of Asthma and Allergies in Childhood, questões sociodemográficas, fatores predisponentes e antecedentes pessoais e familiares. Foram realizadas medidas repetidas do pico de fluxo expiratório nas crianças e dos níveis de concentração de material particulado (MP2,5) e de black carbon. RESULTADOS: A prevalência de sintomas de asma foi de 11% e de 33,2% de rinite; 10,6% apresentaram mais de quatro crises de sibilos nos últimos 12 meses. Antecedentes familiares para bronquite e rinite associaram-se à presença de asma (p = 0,002 e p < 0,001) e de rinite atuais (p < 0,001 e p < 0,001, respectivamente). Para rinite, houve associação com presença de mofo ou rachadura na casa (p = 0,009). Houve maior freqüência de rinite nos meses de junho a outubro, período de safra da cana de açúcar. Prevalência diária de pico de fluxo expiratório abaixo de 20% da mediana de medidas na criança foi maior em dias com maior concentração de MP2,5. CONCLUSÕES: A prevalência de sintomas de asma está abaixo e a de rinite está acima da média nacional. Ainda que dentro dos níveis aceitáveis, a poluição nos períodos de queima da palha da cana-de-açúcar pode contribuir para a exacerbação de episódios de asma e de rinite.

Inequalities in access and utilization of dental services: a cross-sectional study in an area covered by the Family Health Strategy

This cross-sectional study aimed to investigate the presence of inequalities in the access and use of dental services for people living in the coverage area of the Family Health Strategy (FHS) in Ponta Grossa, Paraná State, Brazil, and to assess individual determinants related to them. The sample consisted of 747 individuals who answered a pre-tested questionnaire. Data analysis was performed by chi-square test and Poisson regression analysis, obtaining explanatory models for recent use and, by limiting the analysis to those who sought dental care, for effective access. Results showed that 41% of the sample had recent dental visits. The lowest visit rates were observed among preschoolers and elderly people. The subjects who most identified the FHS as a regular source of dental care were children. Besides age, better socioeconomic conditions and the presence of a regular source of dental care were positively associated to recent dental visits. We identified inequalities in use and access to dental care, reinforcing the need to promote incentives to improve access for underserved populations.

Cobertura vacinal em menores de dois anos a partir de registro informatizado de imunização em Curitiba, PR

OBJETIVO: Avaliar o programa de imunização de crianças de 12 e de 24 meses de idade, com base no registro informatizado de imunização. MÉTODOS: Estudo descritivo em amostra probabilística de 2.637 crianças nascidas em 2002 e residentes em Curitiba, PR. As fontes de dados foram: registro informatizado de imunização do município, Sistema de Informação de Nascidos Vivos e inquérito domiciliar para casos com registro incompleto. As coberturas foram estimadas aos 12 e aos 24 meses de vida e analisadas segundo características socioeconômicas de cada distrito sanitário e o vínculo das crianças aos serviços de saúde. Foram analisadas a abrangência, completude e duplicidades do registro informatizado de imunização. RESULTADOS: A cobertura do esquema de imunização foi de 95,3% aos 12 meses sem diferenças entre os distritos e de 90,3% aos 24 meses, tendo sido mais elevada em um distrito com piores indicadores socioeconômicos (p = 0,01). A proporção de vacinas, segundo o tipo, aplicadas antes e após a idade recomendada foi de até 0,9% e até 32,2%, respectivamente. A cobertura do registro informatizado de imunização foi de 98% na amostra estudada, o sub-registro de doses de vacinas foi de 11% e a duplicidade de registro foi de 20,6%. Os grupos que apresentaram maiores coberturas foram: crianças com cadastro definitivo, aquelas com três ou mais consultas pelo Sistema Único de Saúde e as atendidas em Unidades Básicas de Saúde que adotam plenamente a Estratégia de Saúde da Família. CONCLUSÕES: A cobertura vacinal em Curitiba mostrou-se elevada e homogênea entre os distritos, e o vínculo com os serviços de saúde foi fator importante para tais resultados. O registro informatizado de imunização mostrou-se útil no monitoramento da cobertura vacinal; no entanto, é importante a prévia avaliação do seu custo-efetividade para que seja amplamente utilizado pelo Programa Nacional de Imunização.

Aleitamento materno, alimentação complementar, sobrepeso e obesidade em pré-escolares

OBJETIVO: Analisar a associação do sobrepeso e da obesidade com o aleitamento materno e a alimentação complementar em pré-escolares. MÉTODOS: Estudo transversal envolvendo 566 crianças matriculadas em escolas particulares no município de São Paulo, SP, 2004-2005. A variável dependente foi sobrepeso e obesidade. Para a classificação do estado nutricional das crianças foram utilizadas as curvas de percentis do Índice de Massa Corporal para idade, classificando como sobrepeso valores e"P85 e

Prevalência de hipertensão arterial em militares jovens e fatores associados

OBJETIVO: Estimar a prevalência de hipertensão arterial entre militares jovens e fatores associados. MÉTODOS: Estudo transversal realizado com amostra de 380 militares do sexo masculino de 19 e 35 anos de idade em uma unidade da Força Aérea Brasileira em São Paulo, SP, entre 2000 e 2001. Os pontos de corte para hipertensão foram: >140mmHg para pressão sistólica e > 90mmHg para pressão diastólica. As variáveis estudadas incluíram fatores de risco e de proteção para hipertensão, como características comportamentais e nutricionais. Para análise das associações, utilizou-se regressão linear generalizada múltipla, com família binomial e ligação logarítmica, obtendo-se razões de prevalências com intervalo de 90% de confiança e seleção hierarquizada das variáveis. RESULTADOS: A prevalência de hipertensão arterial foi de 22% (IC 90%: 21;29). No modelo final da regressão múltipla verificou-se prevalência de hipertensão 68% maior entre os ex-fumantes em relação aos não fumantes (IC 90%: 1,13;2,50). Entre os indivíduos com sobrepeso (índice de massa corporal - IMC de 25 a 29kg/m2) e com obesidade (IMC>29kg/m2) as prevalências foram, respectivamente, 75% (IC 90%: 1,23;2,50) e 178% (IC 90%: 1,82;4,25) maiores do que entre os eutróficos. Entre os que praticavam atividade física regular, comparado aos que não praticavam, a prevalência foi 52% menor (IC 90%: 0,30;0,90). CONCLUSÕES: Ser ex-fumante e ter sobrepeso ou obesidade foram situações de risco para hipertensão, enquanto que a prática regular de atividade física foi fator de proteção em militares jovens.

Determinantes individuais da utilização de serviços odontológicos por adultos e idosos de baixa renda

A utilização de serviços odontológicos resulta da interação de determinantes biológicos com fatores socioculturais, familiares e comunitários, bem como de características dos sistemas de saúde. O objetivo deste estudo foi identificar os fatores individuais associados à utilização de serviços odontológicos por parte de adultos e idosos de baixa renda residentes na área de abrangência da Estratégia Saúde da Família, em Ponta Grossa, PR. A amostra constou de 246 indivíduos, com 35 anos de idade ou mais, que responderam a um questionário sobre condições socioeconômicas, necessidade percebida e acesso a serviços odontológicos. A análise dos dados foi realizada por meio de regressão logística, segundo referencial teórico baseado no Modelo Comportamental de Andersen, considerando a consulta odontológica não recente como variável dependente. Verificou-se elevada prevalência de problemas bucais auto-referidos e de perdas dentárias. Cerca de 40% dos adultos e 67% dos idosos não iam ao dentista há mais de três anos. Indivíduos que não residiam em domicílios próprios, realizavam higiene bucal com menor frequência e utilizavam próteses totais apresentaram maiores chances de haver utilizado os serviços odontológicos há mais tempo. O fato de possuir um dentista regular foi identificado como fator de proteção na análise. Concluindo, os determinantes individuais mostraram-se importantes indicadores de acesso aos serviços de saúde bucal. O modelo teórico confirmou a presença de desigualdades sociais e psicossociais na utilização de serviços odontológicos entre os adultos e idosos de baixa renda.

Effect of the kappa-casein gene polymorphism, breed and seasonality on physicochemical characteristics, composition and stability of bovine milk

The objective of this study was to evaluate the effect of genetic polymorphism of kappa-casein, breed and seasonality on the physicochemical characteristics, composition and stability of milk in commercial dairy herds. A total of 879 milk and blood samples were collected from 603 Holstein and 276 Girolando cows, obtained during rainy and dry seasons. Milk samples were analyzed to determine the physicochemical characteristics, composition and ethanol stability, while blood samples were subjected to polymerase chain reaction to identify the kappa-casein genotype. The frequencies of genotypes AA, AB and BB of k-casein were respectively, 66.83, 31.84 and 1.33% for Holstein, and 71.38, 27.90 and 0.72% for the Girolando cows, respectively. The A allele was more frequent than the B allele, both for Holstein (0.827 and 0.173) and Girolando cows (0.853 and 0.147), respectively. Cows of AB and BB genotypes showed a higher milk fat content compared to the AA genotype. There was an interaction between breed and seasonality on the concentration of milk urea with higher values for Holstein and Girolando cows in the rainy and dry season, respectively. The levels of lactose, total solids, crude protein, true protein, casein and the casein:true protein ratio were higher during the dry season, while during the rainy season, the somatic cell count and milk urea concentration were higher. There was no association between milk stability and k-casein genotypes, but Holstein cows showed higher milk stability than Girolando cows, and milk was more stable during the rainy season than during the dry season.

Nutritional characteristics and in vitro digestibility of silages from different corn cultivars harvested at two cutting heights

The objective of this study was to evaluate the nutritional traits and in vitro digestibility of silages from different corn cultivars harvested at two cutting heights. It was evaluated 11 cultivars (Dina 766, Dina 657, Dina 1000, P 3021, P 3041, C 805, C 333, AG 5011, FO 01, Dina co 9621 and BR 205) harvest 5 cm above ground (low) and 5 cm below the intersection of the first ear (high). It was used a random block design (three blocks), arranged in a 11 × 2 factorial scheme. Silages from plants harvested at high cutting height presented average content of dry matter significantly superior to silages from plants harvested at low height. Cultivars FO 01, AG 5011, Dina co 9621 and Dina 766 presented greater content of crude protein than cultivars C 805, P 3041 and P 3021, which presented the lowest contents of this nutrient. The raise in the cut height increased in vitro dry matter true digestibility coefficients and in vitro dry matter digestibility of silage evaluated. The increase in cut height improved nutritive value of silages by decreasing concentrations of fibrous fractions and increasing in vitro dry matter digestibility.