Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic Mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. Methods: We performed direct sequence analysis of interferon regulatory factor 6 exons oil samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. Results: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. Conclusion: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. Oil the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect oil interferon regulatory factor 6 function. Genet Med 2009:11(4):241-247.

Diagnostisering av elever i geometri : En studie med utgångspunkt i van Hieles teori

Detta är en studie som har sin utgångspunkt i Pierre M. van Hieles teori om lärande i geometri, som presenterades 1986 i boken Structure and Insight. Van Hiele har i boken vidareutvecklat sin och Dina van Hiele-Geldofs ursprungliga lärandeteori från 1955. Vår studie har som syfte att se om van Hieles teori går att tillämpa i en individuell, skriftlig diagnos för att nivåbestämma elever i årskurs 1 på gymnasiet.

Holanda e Van Persie são destaques da primeira rodada da Copa

Na estreia, quinta (12), a disputa entre Brasil e Croácia primeiramente dividiu atenções com os protestos que precederam a partida, realizada em São Paulo, mas após o início do jogo foi a Seleção Brasileira e o seu camisa 10 que passaram a concentrar as menções no Twitter. O resumo da primeira rodada da Copa do Mundo é o resultado do monitoramento realizado pelo Mundial na Rede, uma ferramenta de análise de rede lançada pela Diretoria de Análise de Políticas Públicas da Fundação Getulio Vargas em parceria com a empresa Brandwatch. O Mundial na Rede disponibilizará por um mês, 24 horas por dia, dados e insights atualizados em tempo real sobre o que se fala no Twitter sobre a Copa.

Holanda e Van Persie são destaques da primeira rodada da Copa

Artigo do dia 17 jun. 2014 retirado do Brasil Post, The Huffington Post associado à Abril.

Van Persie supera Messi e Neymar no Twitter

Estudo feito pela FGV com empresa britânica aponta os jogadores mais mencionados na rede social

Etnobiologia do boto cinza (Sotalia guianensis, van Bénéden, 1864) por comunidades pesqueiras do Rio Grande do Norte, Basil

Ethnobiology studies Local Ecological Knowledge (LEK) as well as the use and management of natural resources by local communities in order to understand how the environment is perceived, known and classified by human groups. In fishing communities, LEK adds empirical information about the biology of aquatic species and complements scientific findings, especially when it is difficult to obtain factual information during studies on cetaceans, whose behavior is essentially underwater. Cetaceans (whales and dolphins) are constantly threatened by human activities, especially by accidental capture of small coastal species, as in the case of the estuarine dolphin (Sotalia guianensis), object of this study. Ethnobiological researches in fishing communities are of great importance and can clarify aspects of the biology and conservation of this species. Although extensively studied throughout its distribution range, there are still gaps in the knowledge about S. guianensis. Therefore, fishers local ecological knowledge becomes an additional tool to get and confirm information about S. guianensis. This study evaluated the LEK of artisanal fishers who are daily exposed to local population of S. guianensis, through the use of semistructured interviews (N=116). The interviewed fishers were asked about the biology and popular classification of S. guianensis and about possible interactions between this dolphin and them. The studied communities were located in Tibau do Sul (n=39), Pipa (n=36) and Baía Formosa (n=41), all on the south coast of Rio Grande do Norte, Brazil. The study was based on the assumption that differences in fishers LEK among those communities would be caused by both the variety of fishing environments (lagoon/estuary and ocean) and the intensity of tourism activities. Fishers knowledge is expressive and differed among the studied communities depending on the topic investigated. Fishers correctly reported the habitat, distribution, seasonality and behavioral particularities of S. guianensis. Tourism mainly affected the naming of the species. The study results also suggest that marine fishers have greater knowledge about the species than the estuarine/lagoon ones. Local populations accumulate empirical knowledge according to their environment. Hence, it is important to take into account both empirical knowledge and popular participation in management systems, in order to maintain information sharing among communities

Bifurcation Analysis of a Van der Pol-Duffing Circuit with Parallel Resistor

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation

In this report, we present a boy with lower lip pits, distinct craniofacial dysmorphism with cleft lip and palate, central nervous system malformation, and severe mental retardation. Similar but less pronounced facial findings were present in his mentally normal mother and maternal grandfather, both presenting with lower lip pits. Cleft lip was present in patient's father. Analysis of the VWS1 and VWS2 regions were performed to elucidate the molecular basis of the phenotype of the propositus. Screening or mutations at the IRF6 gene detected a pathogenic mutation (c.960G > C) in the propositus and in his mother; and a single nucleotide polymorphism (c.175-5C > G) in the propositus and in his father. Clinical and genetic aspects of this case are discussed.

The definition of potential infiltration areas in Guaratingueta watershed, Paraiba do Sul Basin, Southeastern Brazil: an integrated approach using physical and land-use elements

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Ecologia alimentar do boto cinza, sotalia guianensis (van banédén, 1864), no litoral do rio grande do norte (rn)

This study investigated factors that influence the group size during the behavior foraging of estuarine dolphin Sotalia guianensis in the coast south of the state Rio Grande do Norte (RN), it also characterized the diet of estuarine dolphins and elaborated an otoliths catalog for aid in the identification of the preys found in the stomach contents. In relation to the group size during behaviour foraging, inside of the Curral Bay, larger frequency of solitary hunt was observed. Factors as tide variation, group composition and seasons didn't present correlation with the number of animals observed during a feeding episode. Capture success for participant was shown significantly larger when the animals hunted alone, what possibly explains the largest frequency of solitary hunt inside of the Curral Bay. About diet, were identified 18 bone fishes species, with predominance of species the families Haemulidae and Sciaenidae and five cephalopods species, including two new species in the diet of Sotalia guianensis in Brazil. Our results indicated that estuarine dolphin in the coast oriental from Rio Grande do Norte (RN) feeds predominantly of fish that form shoal, of habitat estuarino and producing of sounds. The analysis of the images, otoliths of 43 species of coastal fish of the coast of the state of Rio Grande do Norte (RN), aided by the offered descriptions, demonstrated to be an effective methodology for the knowledge of those structures, as well as it represented a form of reducing the subjectivity in the identification of the bone fishes found in stomach content

Boto cinza (Sotalia guianensis, Van Benédén, 1864) (Cetacea, Delphinidae): Atividade aérea, forrageio e interações inter-específicas, na Praia de Pipa (Tibau do Sul RN) e estudo comparativo entre duas populações do Nordeste do Brasil

Sotalia guianensis is a small cetacean of the Delphinidae family, with coastal habits and whose area of distribution ranges from Florianópolis (27º35'S, 48º34'W), in Brazil, to Honduras (15º58'N, 85º42'W). At Pipa beach, on the south coast of RN state, in Brazil, the species occur throughout the year. The present study was carried out in two bays, which are bordered by cliffs. The animals were monitored from vantage points, using the "Ad libitum" and "all the occurrences" methods; during the years of 1999 and 2004. The study was divided in 4 chapters: Behavioral standards of two populations of gray dolphin, (Sotalia guianensis, Van Benédén, 1864) in the northeast of Brazil; Aerial activity of the gray dolphin: its possible function and the influence of environmental and behavioral factors; The influence of daily and monthly variation of the tides, of the period of the day and group size on the gray dolphin forage activity; kleptoparasitism interactions of frigatebird (Fregata magnificens, Mattheus, 1914) during the gray dolphin forage activity. The results have shown that the gray dolphin has a varied and complex behavioral repertoire. The leap is the most frequent behavior; the aerial activity is diffuse during daylight and is influenced by some factors, such as the level of the tide and social factors. The gray dolphin, when in the bay, most frequently feeds isolate or in small groups. The forage is diffuse during daylight; however, being more frequent in the morning and is influenced by the daily and monthly variation of the tide. At Pipa beach, kleptoparasitarian interactions were registered between the gray dolphin and the frigatebird (Fregata magnificens). The frigatebird forage strategy consists basically of two ways: to fly over great extensions searching for dead fish and to steal food (kleptoparasitism). These interactions were predominantly carried out between immature and female adult birds and adult and immature dolphins, and occurred during daylight. The present study can be considered an initial landmark to a better knowledge on the gray dolphin surface behavior, especially regarding the aerial behavioral repertoire and forage strategy of this species. However, it is necessary to continue these studies, so that we can understand better the complex social life of these animals and thus create effective measures for its conservation

Uso de habitat, orçamento temporal e influência da maré da geomorfologia do fundo sobre o comportamento do boto Sotalia guianensis Van Bénéden, 1864 (Cetacea: Delphinidae) no Porto de Maceió - Alagoas, Brasil

The physical and environmental factors presented by each habitat and the rhythm of behavior patterns strongly influence the ecology and behavior of the all living beings. At same time this factors may provide clues about the structure of a population and its ecological balance. The organizational structure, ecology and behavior of a species appraised in a region if we know be in balance when compared to the same type of appraisal made in a degraded area can provide a clear view of how the anthropogenic influences acted on these species and what steps can be taken in order to mitigate the effects and keep the population. The region where this study was conducted is, like most areas of port, subject to intense physical and environmental degradation. With the emerging interest of change in the quality of these environments also by the companies themselves that use the port services, the proposed study aimed to characterize the use of habitat, the distribution of behavioral activities carried out throughout the day and influence of geomorphology of the bed, depth and variation of tide on the expression of the behavior of Sotalia guianensis in the port of Maceio - Alagoas. From this information will be possible establish parameters for comparison with other populations of S. guianensis and establish conservation measures for the population occurring in the port of Maceio - AL, serving also as a basis for conservation actions future performed in other port regions

Cuidado ao filhote de boto cinza, Sotalia guianensis (van Benédén, 1864)

In some species parental care is vital to survival. Many studies have reported various parental care behaviours in cetaceans. In Sotalia guianensis, some behaviours have been already described and linked to parental care. However, many aspects are still unknown and all these information might be important for the species conservation. The aim of the present study was minimize these gaps, showing the options involved in the marine tucuxi parental care. The observations took place in Enseada do Curral, located in Pipa, Tibal do Sul, Rio Grande do Norte Coast. Between January and December of 2005 the local population of tucuxi was observed during 42 days. The methods used were Focal Animal and Ad Libitum. The results suggest that calves are present in the bay all year long. Groups with calves had a mean of 6,9 animals, allowing the animals to participate in different activities in the group besides caring. The calves created different associations, being usually followed by an adult. In groups, the calves stay mainly in the centre, which offers them protection. Calves remained next to the adults tail, facilitating breastfeeding. The calves most noticeable activities were those in the surface and the behaviour frequencies decreased, in general, in the presence of human swimmers and boats, what could be considered a threat to the animals. Adults shared positions when caring for calves, suggesting allomaternal care; food transfer from adults to calves was observed, which might be related to diet acquisition; three non-described behaviours were seen, indicating a diversified behavioural repertoire for this species