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.

A new genus and two new species of Stevardiinae (Characiformes: Characidae) with a hypothesis on their relationships based on morphological and histological data

Lepidocharax, new genus, and Lepidocharax diamantina and L. burnsi new species from eastern Brazil are described herein. Lepidocharax is considered a monophyletic genus of the Stevardiinae and can be distinguished from the other members of this subfamily except Planaltina, Pseudocorynopoma, and Xenurobrycon by having the dorsal-fin origin vertically aligned with the anal-fin origin, vs. dorsal fin origin anterior or posterior to anal-fin origin. Additionally the new genus can be distinguished from those three genera by not having the scales extending over the ventral caudal-fin lobe modified to form the dorsal border of the pheromone pouch organ or to represent a pouch scale in sexually mature males. In this paper, we describe these two recently discovered species and the ultrastructure of their spermatozoa.

Vocalizations and comments on the relationships of Hypsiboas ericae (Amphibia, Hylidae)

The vocalizations of Hypsiboas ericae (Caramaschi & Cruz, 2000) are described and new information on the external morphology and osteology of the species are presented. H. ericae presents a bony spine in the prepolex and the individuals can present green or brown dorsal color, as other species of the Hypsiboas pulchellus (Duméril & Bibron, 1841) species group. The vocalizations of H. ericae are similar to the vocalizations of Hypsiboas bischoffi (Boulenger, 1887), Hypsiboas guentheri (Boulenger, 1886), and other species in the H. polytaenius (Cope, 1870 "1869") clade of the H. pulchellus species group, but some osteological aspects are different to those found in the majority of the species of this group.

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).

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.

A percepção do usuário do Programa Saúde da Família sobre a privacidade e a confidencialidade de suas informações

Trata-se de estudo que procurou conhecer como o usuário do Programa Saúde da Família (PSF) percebe o direito à privacidade e à confidencialidade de suas informações reveladas ao agente comunitário de saúde (ACS) e como relaciona a visita domiciliar ao seu direito à privacidade. Estudo qualitativo, de natureza exploratória e como instrumento de investigação elaborou-se um roteiro de entrevistas semiestruturadas, com questões abertas, realizadas com usuários de uma Unidade do PSF do município de São Paulo. Os resultados mostraram que os usuários não consideram a entrada do ACS em suas residências como uma invasão à sua privacidade e que esse profissional é visto, muitas vezes, apenas como um facilitador do acesso ao serviço de saúde. Constatou-se tendência em se admitir que as informações dadas em sigilo podem ser reveladas pelo ACS. Notou-se a importância das relações de gênero e do cuidado quando da revelação de determinadas condições de saúde. Enfermidades como AIDS, tuberculose, câncer, doenças da próstata e o diabetes apareceram como doenças que podem causar preconceito e, nesse sentido, não deveriam ser reveladas ao ACS, a não ser pela necessidade do acesso mais rápido às consultas médicas. Pareceu, ainda, haver certa passividade do usuário em relação à percepção da falta de respeito ao sigilo das suas informações.

Relationships of blood lead to calcium, iron, and vitamin C intakes in Brazilian pregnant women

Background & aims. This study aimed to determine the relationship between blood lead concentrations and calcium, iron and vitamin C dietary intakes of pregnant women. Methods. Included in the study were 55 women admitted to a hospital, for delivery, from June to August 2002. A food frequency questionnaire was applied to determine calcium, iron and vitamin C intakes, and a general questionnaire to obtain data on demographic-socioeconomic condition, obstetric history, smoking habit, and alcohol intake. Blood lead and haemoglobin were determined, respectively, by atomic absorption spectrometry and by the haemoglobinometer HemoCue®. Multiple linear regression models were used to determine the relationship between blood lead and calcium, iron and vitamin C intakes, and haemoglobin levels, controlling for confounders. Results. The final model of the regression analysis detected an inverse relationship between blood lead and age of the women (p=0.011), haemoglobin (p=0.001), vitamin C (p=0.012), and calcium intake (p<0.001) (R2=0.952). One hundred percent, 98.2% and 43.6% of the women were below the adequate intake (AI) for calcium, and below the recommended dietary allowances (RDA) for iron, and vitamin C, respectively. Conclusion. Despite the small sample size, the results of this study suggest that maternal age, haemoglobin, vitamin C intake, and calcium intake may interfere with blood concentrations of lead

Contraceptive methods with male participation: a perspective of brazilian couples

OBJECTIVE: To assess the perspectives of couples who requested vasectomy in a public health service on the use of male participation contraceptive methods available in Brazil: male condoms, natural family planning/calendar, coitus interruptus and vasectomy. METHODS: A qualitative study with semi-structured interviews was held with 20 couples who had requested vasectomy at the Human Reproduction Unit of the Universidade Estadual de Campinas, Brazil. Data analysis was carried out through thematic content analysis. FINDINGS: The couples did not, in general, know any effective contraceptive options for use by men and/or participating in their use, except for vasectomy. The few methods with male participation that they knew of were perceived to interfere in spontaneity and in pleasure of intercourse. Men accepted that condom use in extra-conjugal relations offered them protection from sexually transmitted diseases; that their wives might also participate in extra-marital relationships was not considered. DISCUSSION: The few contraceptive options with male participation lead to difficulty in sharing responsibilities between men and women. On the basis of perceived gender roles, women took the responsibility for contraception until the moment when the situation became untenable, and they faced the unavoidable necessity of sterilization. CONCLUSIONS: Specific actions are necessary for men to achieve integral participation in relation to reproductive sexual health. These include education and discussions on gender roles, leading to greater awareness in men of the realities of sexual and reproductive health

Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations

Background: Thyroglobulin (Tg) is a large glycoprotein that is intimately involved in the biosynthesis of thyroxine and triiodothyronine. At least 38 mutations have been described in the Tg gene that are associated with varying degrees of hypothyroidism. We studied the Tg gene in four related subjects with congenital hypothyroidism. Summary: We found a novel compound heterozygous constellation (IVS30 + 1G>T/A2215D) in a brother and sister and one previously described related mutation (IVS30+1G>T) in their two sibling second degree cousins. The brother with the IVS30 + 1G>T/A2215D mutation and the two siblings with the IVS30+1G>T mutation had fetal or neonatal goiter and all had hypothyroidism. Conclusions: This study further confirms the association of the IVS30+1G>T mutation of the Tg gene with hypothyroidism. Computer analysis predicts that the A2215D mutation, first reported here, should cause structural instability of Tg but when present as a compound heterozygous mutation with IVS30+G>T/A its effect is unclear but is likely to be influenced by iodine intake.

The family health system: analysis of a health survey in Sao Paulo, Brazil

Background The Family Health Strategy (FHS) has been implemented as a strategy for primary care improvement in Brazil. Working with teams that include one doctor, one nurse, auxiliary nurses and community health workers in predefined areas, the FHS began in 1994 (known then as the Family Health Program) and has since grown considerably. The programme has only recently undergone assessment of outcomes, in contrast to more routine evaluations of infrastructure and process. Methods In 2001, a health survey was carried out in two administrative districts (with 190 000 inhabitants) on the outskirts of the city of Sao Paulo, both partially served by the FHS. Chronic morbidity (hypertension, diabetes and ischaemic heart disease) of individuals aged 15 or older was studied in areas covered and not covered by the programme. Stratified univariate analysis was applied for sex, age, education, income, working status and social insurance of these populations. Multivariate analysis was applied where applicable. Results There was a distinct pattern in the morbidity profile of these populations, suggesting differentiated self-knowledge on chronic disease status in the areas served by the FHS. Conclusion The FHS can increase population awareness of chronic diseases, possibly through increasing access to primary care.

Physical and dynamical characterization of (5201) Ferraz-Mello, a possible extinct Jupiter family comet

Context. The subject of asteroids in cometary orbits (ACOs) has been of growing interest lately. These objects have the orbital characteristics typical of comets, but are asteroidal in appearance, i.e., show no signs of a coma at any part of their orbits. At least a fraction of these objects are thought to be comets that have either exhausted all their volatile content or developed a refractory crust that prevents sublimation. In particular, the asteroid ( 5201) Ferraz-Mello has, since its discovery, been suspected to be an extinct Jupiter family comet due to the peculiar nature of its orbit. Aims. The aim of this work is to put constraints on the possible origin of ( 5201) Ferraz-Mello by means of spectroscopic characterization and a study of the dynamics of this asteroid. Methods. We used the SOAR Optical Imager (SOI) to obtain observations of ( 5201) Ferraz-Mello using four SDSS filters. These observations were compared to asteroids listed in the Sloan Moving objects catalog and also to photometry of cometary nuclei, Centaurs, and TNOs. The orbital evolution of ( 5201) Ferraz-Mello and of a sample of asteroids and comets that are close to that object in the a - e plane were simulated using a pure N-body code for 4 000 years forward and 4 000 years backward in time. Results. The reflectance spectrum obtained from its colors in the SDSS system is unusual, with a steep spectral gradient that is comparable to TNOs and Centaurs, but with an increase in the reflectance in the g band that is not common in those populations. A similar behavior is seen in cometary nuclei that were observed in the presence of a faint dust coma. The dynamical results confirm the very chaotic evolution found previously and its dynamical similarity to the chaotic evolution of some comets. The asteroid is situated in the very stochastic layer at the border of the 2/1 resonance, and it has a very short Lyapunov time ( 30 - 40) years. Together, the spectral characteristcs and the dynamical evolution suggest that ( 5201) Ferraz-Mello is a dormant or extinct comet.

The gene transformer-2 of Anastrepha fruit flies (Diptera, Tephritidae) and its evolution in insects

Background: In the tephritids Ceratitis, Bactrocera and Anastrepha, the gene transformer provides the memory device for sex determination via its auto-regulation; only in females is functional Tra protein produced. To date, the isolation and characterisation of the gene transformer-2 in the tephritids has only been undertaken in Ceratitis, and it has been shown that its function is required for the female-specific splicing of doublesex and transformer pre-mRNA. It therefore participates in transformer auto-regulatory function. In this work, the characterisation of this gene in eleven tephritid species belonging to the less extensively analysed genus Anastrepha was undertaken in order to throw light on the evolution of transformer-2. Results: The gene transformer-2 produces a protein of 249 amino acids in both sexes, which shows the features of the SR protein family. No significant partially spliced mRNA isoform specific to the male germ line was detected, unlike in Drosophila. It is transcribed in both sexes during development and in adult life, in both the soma and germ line. The injection of Anastrepha transformer-2 dsRNA into Anastrepha embryos caused a change in the splicing pattern of the endogenous transformer and doublesex pre-mRNA of XX females from the female to the male mode. Consequently, these XX females were transformed into pseudomales. The comparison of the eleven Anastrepha Transformer-2 proteins among themselves, and with the Transformer-2 proteins of other insects, suggests the existence of negative selection acting at the protein level to maintain Transformer-2 structural features. Conclusions: These results indicate that transformer-2 is required for sex determination in Anastrepha through its participation in the female-specific splicing of transformer and doublesex pre-mRNAs. It is therefore needed for the auto-regulation of the gene transformer. Thus, the transformer/transfomer-2 > doublesex elements at the bottom of the cascade, and their relationships, probably represent the ancestral state ( which still exists in the Tephritidae, Calliphoridae and Muscidae lineages) of the extant cascade found in the Drosophilidae lineage ( in which tra is just another component of the sex determination gene cascade regulated by Sex-lethal). In the phylogenetic lineage that gave rise to the drosophilids, evolution co-opted for Sex-lethal, modified it, and converted it into the key gene controlling sex determination.

Description and Phylogenetic Relationships of a New Genus and Species of Lizard (Squamata, Gymnophthalmidae) from the Amazonian Rainforest of Northern Brazil

Marinussaurus curupira, a new genus and species of Gymnophthalmidae lizard is described from Iranduba, state of Amazonas, Brazil. The genus is characterized by an elongate body; short and stout pentadactyl limbs; all digits clawed; single frontonasal; two prefrontals; absence of frontoparietals; interparietal and parietals forming a straight posterior margin, with interparietal shorter than parietals; distinctive ear opening and eyelid; few temporals; three pairs of chin shields; nasal divided; a distinct collar; smooth, mainly hexagonal, dorsal scales; smooth quadrangular ventral scales; two precloacal and three femoral pores on each side in males; pores between three or four scales. Parsimony (PAR) and partitioned Bayesian (BA) phylogenetic analyses with morphological and molecular data recovered the new genus as a member of the Ecpleopodini radiation of the Cercosaurinae. A close relationship of the new genus with Arthrosaura is postulated.