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 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.

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.

Phylogenetic relationships within the speciose family Characidae (Teleostei: Ostariophysi: Characiformes) based on multilocus analysis and extensive ingroup sampling

Background: With nearly 1,100 species, the fish family Characidae represents more than half of the species of Characiformes, and is a key component of Neotropical freshwater ecosystems. The composition, phylogeny, and classification of Characidae is currently uncertain, despite significant efforts based on analysis of morphological and molecular data. No consensus about the monophyly of this group or its position within the order Characiformes has been reached, challenged by the fact that many key studies to date have non-overlapping taxonomic representation and focus only on subsets of this diversity. Results: In the present study we propose a new definition of the family Characidae and a hypothesis of relationships for the Characiformes based on phylogenetic analysis of DNA sequences of two mitochondrial and three nuclear genes (4,680 base pairs). The sequences were obtained from 211 samples representing 166 genera distributed among all 18 recognized families in the order Characiformes, all 14 recognized subfamilies in the Characidae, plus 56 of the genera so far considered incertae sedis in the Characidae. The phylogeny obtained is robust, with most lineages significantly supported by posterior probabilities in Bayesian analysis, and high bootstrap values from maximum likelihood and parsimony analyses. Conclusion: A monophyletic assemblage strongly supported in all our phylogenetic analysis is herein defined as the Characidae and includes the characiform species lacking a supraorbital bone and with a derived position of the emergence of the hyoid artery from the anterior ceratohyal. To recognize this and several other monophyletic groups within characiforms we propose changes in the limits of several families to facilitate future studies in the Characiformes and particularly the Characidae. This work presents a new phylogenetic framework for a speciose and morphologically diverse group of freshwater fishes of significant ecological and evolutionary importance across the Neotropics and portions of Africa.

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.

Systematic investigation of a family of gradient-dependent functionals for solids

Eleven density functionals are compared with regard to their performance for the lattice constants of solids. We consider standard functionals, such as the local-density approximation and the Perdew-Burke-Ernzerhof (PBE) generalized-gradient approximation (GGA), as well as variations of PBE GGA, such as PBEsol and similar functionals, PBE-type functionals employing a tighter Lieb-Oxford bound, and combinations thereof. On a test set of 60 solids, we perform a system-by-system analysis for selected functionals and a full statistical analysis for all of them. The impact of restoring the gradient expansion and of tightening the Lieb-Oxford bound is discussed, and confronted with previous results obtained from other codes, functionals or test sets. No functional is uniformly good for all investigated systems, but surprisingly, and pleasingly, the simplest possible modifications to PBE turn out to have the most beneficial effect on its performance. The atomization energy of molecules was also considered and on a testing set of six molecules, we found that the PBE functional is clearly the best, the others leading to strong overbinding.

Experimental and theoretical study of two-photon absorption in nitrofuran derivatives: Promising compounds for photochemotherapy

We report experimental and theoretical studies of the two-photon absorption spectrum of two nitrofuran derivatives: nitrofurantoine, (1-(5-nitro-2-furfurilideneamine)-hidantoine) and quinifuryl, 2-(5`-nitro-2`-furanyl) ethenyl-4-{N-[4`-(N,N-diethylamino)-1`-methylbutyl]carbamoyl} quinoline. Both molecules are representative of a family of 5-nitrofuran-ethenyl-quinoline drugs that have been demonstrated to display high toxicity to various species of transformed cells in the dark. We determine the two-photon absorption cross-section for both compounds, from 560 to 880 nm, which present peak values of 64 GM for quinifuryl and 20 GM for nitrofurantoine (1 GM = 1 x 10(-50) cm(4).s.photon(-1)). Besides, theoretical calculations employing the linear and quadratic response functions were carried out at the density functional theory level to aid the interpretations of the experimental results. The theoretical results yielded oscillator strengths, two-photon transition probabilities, and transition energies, which are in good agreement with the experimental data. A higher number of allowed electronic transitions was identified for quinifuryl in comparison to nitrofurantoine by the theoretical calculations. Due to the planar structure of both compounds, the differences in the two-photon absorption cross-section values are a consequence of their distinct conjugation lengths. (c) 2011 American Institute of Physics. [doi:10.1063/1.3514911]

Floral development in the tribe Cedreleae (Meliaceae, sub-family Swietenioideae): Cedrela and Toona

Background and Aims Floral development of Cedrela and Toona, the genera comprising the basal tribe Cedreleae of the sub-family Swietenioideae of Meliaceae, is described. The focus was on three endangered, ecologically and economically important species: Cedrela fissilis, Cedrela odorata and Toona ciliata. The aims of the study were to characterize the patterns of floral development in the tribe and to establish apomorphic and plesiomorphic floral characters in relation to other taxa within the family based on the current molecular phylogeny of Meliaceae. Methods A detailed floral structural and developmental study was completed using both scanning electron microscopy and visualization of microtome sections with a light microscope. Key Results Twelve floral developmental stages were identified. The initial development of the pentamerous flowers of both Toona and Cedrela is strikingly similar. The morphological differences observed between them are due to differential patterns of organ elongation and adnation/connation occurring late in development. Additionally, the formation of functionally male and female flowers was found to occur at specific positions within the inflorescence. Conclusions Due to the basal position of the tribe Cedreleae in the phylogeny of Meliaceae, functionally either male or female pentamerous flowers and the presence of (at least partially) free stamens may be considered plesiomorphic traits within the family. In contrast, sympetaly and the absence of nectaries in Cedrela species are synapomorphies.

The Emergence of Family Nursing in Brazil

A family perspective has been influencing Brazilian nursing practice and research, in particular in the past decade. Despite this development, there is evidence from research and from nurses` narratives that nurses still experience serious challenges in providing nursing care to families in Brazil. These challenges are analyzed and strategies are offered to support nurses in Brazil to ""think family"" and stimulate advanced practice in family nursing.

Friere`s Dialogic Concept Enables Family Health Program Teams to Incorporate Health Promotion

Objective The study analyzes the possibility of incorporating health promotion measures into the work processes of Family Health Program teams at a primary health care clinic in Brazil. Design and Sample We used the participatory research concept developed in 1968 by Freire. The study sample comprised the end-users of the health care system, together with 3 multidisciplinary teams. A total of 77 health care users and 55 health professionals participated in the study. Measures Culture circles composed of health care professionals, and users from different areas investigated generative topics, encoded/decoded topics, and engaged in critical probing for clarification. Topics affecting quality of life and health were heuristically evaluated. Results Although most topics were related to changing the focus of health care facilities, some were related to subsidizing community-based interventions, improving environmental strategies, individual skills, and public policies. Incorporating the novel health promotion measures and creating an expanded full-treatment clinic are important steps toward that goal. Conclusions Topics that can stimulate dialogue among the members of the culture circles include creating an environment of closer cultural contact, with repercussions for work processes, family health models, and general health models, as well as the inclusion of social aspects in the decision-making processes related to health issues that affect the living conditions of the population.

A Family of Autoconnected Transformers for 12-and 18-Pulse Converters-Generalization for Delta and Wye Topologies

Multipulse rectifier topologies based on autoconnections are increasingly applied as interface stages between mains and power electronics converters. These topologies are attractive and cost-effective solutions for meeting the requirements of low total harmonic distortion of line current and high power factor. Furthermore, as only a small fraction of the total power required by the load is processed in the magnetic core, the overall resulting volume and weight are reduced. This paper proposes a mathematical analysis based on phasor diagrams that results in a single and general expression capable of unifying all delta and wye step-up or step-down autotransformer connections for 12-and 18-pulse ac-dc converters. The expression obtained allows the choice of a wide range of input/output voltage ratio for step-up or step-down autotransformer, and this general expression is also presented in a graphical form for each converter. Moreover, it simplifies the procedure for determining turn ratios and polarities for all windings of the autotransformer. A routine for easy and fast calculations is developed and validated by a design example. Finally, experimental results are presented along with comments on a 6-kW 220-V line voltage, 400-V rectified voltage, and 18-pulse delta-autoconnected prototype.

A family of implementation-friendly BN elliptic curves

For the last decade, elliptic curve cryptography has gained increasing interest in industry and in the academic community. This is especially due to the high level of security it provides with relatively small keys and to its ability to create very efficient and multifunctional cryptographic schemes by means of bilinear pairings. Pairings require pairing-friendly elliptic curves and among the possible choices, Barreto-Naehrig (BN) curves arguably constitute one of the most versatile families. In this paper, we further expand the potential of the BN curve family. We describe BN curves that are not only computationally very simple to generate, but also specially suitable for efficient implementation on a very broad range of scenarios. We also present implementation results of the optimal ate pairing using such a curve defined over a 254-bit prime field. (C) 2001 Elsevier Inc. All rights reserved.