Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease

Canavan disease, an inherited leukodystrophy, is caused by mutations in the aspartoacylase (ASPA) gene. It is most common among children of Ashkenazi Jewish descent but has been diagnosed in many diverse ethnic groups. Two mutations comprise the majority of mutant alleles in Jewish patients, while mutations in the ASPA gene among non-Jewish patients are different and more diverse. In the present study, the ASPA gene was analysed in 22 unrelated non-Jewish patients with Canavan disease, and 24 different mutations were found. of these,14 are novel, including five missense mutations (E24G, D68A, D249V, C152W, H244R), two nonsense mutations (Q184X, E214X), three deletions (923delT, 33del13, 244delA), one insertion mutation (698insC), two sequence variations in one allele ([10T>G; 11insG]), an elimination of the stop codon (941A>G, TAG-->TGG, X314W), and one splice acceptor site mutation (IVS1 - 2A>T). The E24G mutation resulted in substitution of an invariable amino acid residue (Glu) in the first esterase catalytic domain consensus sequence. The IVS1 - 2A>T mutation caused the retention of 40 nucleotides of intron 1 upstream of exon 2. The results of transient expression of the mutant ASPA cDNA containing these mutations in COS-7 cells and assays for ASPA activity of patient fibroblasts indicated that these mutations were responsible for the enzyme deficiency. In addition, patients with the novel D249V mutation manifested clinically at birth and died early. Also, patients with certain other novel mutations, including C152W, E214X, X314W, and frameshift mutations in both alleles, developed clinical manifestations at an earlier age than in classical Canavan disease.

Ecosistema del pastoreo andino en las tierras altas de los Andes Centrales

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Enzyme replacement therapy for Anderson-Fabry disease.

Anderson-Fabry disease is an X-linked defect of glycosphingolipid metabolism. Progressive renal insufficiency is a major source of morbidity, additional complications result from cardio- and cerebro-vascular involvement. Survival is reduced among affected males and symptomatic female carriers. To evaluate the effectiveness and safety of enzyme replacement therapy compared to other interventions, placebo or no interventions, for treating Anderson-Fabry disease. We searched 'Clinical Trials' on The Cochrane Library, MEDLINE, EMBASE, LILACS and the Cystic Fibrosis and Genetic Disorders Group's Inborn Errors of Metabolism Trials Register (date of the most recent search: 11 September 2012). The original search was performed in September 2008.Date of the most recent search of the Cystic Fibrosis and Genetic Disorders Group's Inborn Errors of Metabolism Trials Register: 11 September 2012. Randomized controlled trials of agalsidase alfa or beta in participants diagnosed with Anderson-Fabry disease. Two authors selected relevant trials, assessed methodological quality and extracted data. Six trials comparing either agalsidase alfa or beta in 223 participants fulfilled the selection criteria.Both trials comparing agalsidase alfa to placebo reported on globotriaosylceramide concentration in plasma and tissue; aggregate results were non-significant. One trial reported pain scores, there was a statistically significant improvement for participants receiving treatment at up to three months, mean difference -2.10 (95% confidence interval (CI) -3.79 to -0.41); at up to five months, mean difference -1.90 (95% CI -3.65 to -0.15); and at up to six months, mean difference -2.00 (95% CI -3.66 to -0.34). There was a significant difference in pain-related quality of life at over five months and up to six months, mean difference -2.10 (95% CI -3.92 to -0.28) but not at other time-points. Neither trial reported deaths.One of the three trials comparing agalsidase beta to placebo reported on globotriaosylceramide concentration in plasma and tissue and showed significant improvement: kidney, mean difference -1.70 (95% CI -2.09 to -1.31); heart, mean difference -0.90 (95% CI -1.18 to -0.62); and composite results (renal, cardiac, and cerebrovascular complications and death), mean difference -4.80 (95% CI -5.45 to -4.15). There was no significant difference between groups for death; no trials reported on pain.Only one trial compared agalsidase alfa to agalsidase beta. There was no significant difference between the groups for any adverse events, risk ratio 0.36 (95% CI 0.08 to 1.59), or any serious adverse events; risk ratio 0.30; 95% CI 0.03 to 2.57). Six small, poor quality randomised controlled trials provide no robust evidence for use of either agalsidase alfa and beta to treat Anderson-Fabry disease.

Ecosistema del pastoreo andino en las tierras altas de los Andes Centrales

Incluye Bibliografía

Estudo tomográfico do encéfalo de cães dolicocefálicos, mesaticefálicos e branquicefálicos clinicamente sadios

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

Show da fé e de sentido(s): o universo eclesial como mediação sociocultural

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Entre a sacristia e o laboratório: os intelectuais protestantes brasileiros e a produção da cultura (1903-1942)

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

As ações assistenciais promovidas pelas Igrejas Pentecostais no município de Londrina (1970 – 1990)

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Prevalência dos antígenos eritrocitários caninos em cães domésticos (Canis familiaris) e investigação dos parâmetros hematológicos e da ocorrência de antígenos eritrocitários em lobos-guará (Chrysocyon brachyurus) e cachorros-do-mato (Cerdocyon thos) criados no Brasil

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

Os pescadores e as ilhas desconhecidas, de Raul Brandão: entre itinerários e paisagens, a miséria

Pós-graduação em Estudos Literários - FCLAR

Vulnerabilidade ao stress e estratégias de enfrentamento de líderes religiosos cristãos

Pós-graduação em Psicologia do Desenvolvimento e Aprendizagem - FC

O uso do rádio e da TV por instituições religiosas: um fenômeno crescente nos mais variados canais de comunicação

In the present study aimed to study the use of radio and television in Brazil by the various Christian aspects rooted in the country. The main objective was to analyze how the churches define the orientation or the use of strategies of both comprehensive and traditional media vehicles, which are still the most popular mass media, both for the formation of culture and national public opinion in both states and municipalities, which demarcate and retain regional traits that differentiate culturally, economically and socially diverse Brazilian populations. Christian churches are increasingly seeking loopholes and legal facilities, public spaces and broadcast media to facilitate the achievement of followers of their theological ideologies. On the radio, on television and also through social networks of the Internet, pastors, priests, bishops and lay Christians to seek their potential both in public space and home individually, using old and new individual devices and portable reception of audiovisual content. All preachers fiercely competing for space leased the open television networks, in national and local radio stations and invest in the organization of broadcasters Community legalized or informal. The work also aims to study the radio and television concessions in Bauru, to show the failures that occur in broadcasting spectrum management by the federal government and also for the reader to understand what the Constitution says about the use of these vehicles public concession by religious institutions

Explorando potencialidades para a criação de rede de apoio social a mulheres lusófonas que vivem com câncer de mama em Toronto, Canadá

Introduction: Health indicators tend to be altered due to the participation of people in social networks. Objective: To find out ideas of individuals belonging to Portuguese speaking communities in Toronto, Canada, about the possibility of creating a social support network for women experiencing breast cancer. Method: Nineteen participants of the present ethnographic and critical study answered to questions, providing their opinions regarding to the social support network and its positive and negative aspects. Also, the participants suggested other possible individuals who could participate and help in the creation of such network. Discussions were transcribed, analysed and coded using qualitative software called Atlas ti 6.0. Results: The main components for the creation of the social support network were: the demystification of breast cancer and its prevention, emphasis in health education, dissemination of the need of volunteers and a direct social support to those women. The positive aspects were the participation of oldest women as social leaders and the utilization of schools and religious institutions for publicity. Negative aspects that were perceived as barriers are: the belief that breast cancer is a disease lived by women, the lack of knowledge about its cure and rehabilitation, as well as a collective sensitiveness to it. Also, about the participation of community leaders, the suggestions were: diplomats, priests and pastors, schools directors and communication entrepreneurs. Conclusion: The creation of the social support network should consider the cultural sensitiveness and the inner diversity of the consulted Portuguese speaking communities. Due to the insufficient number of Angolan participants to sustain a major analysis, a special recommendation was that Angolan social leaders and professionals should be invited to design the structure of such network according to their specific cultural traits.

De cada labrador un soldado y de cada agricultor un propietario : Economía, sociedad y política en el ejido de la Guardia de Luján (Mercedes), 1810-1870

En la siguiente investigación analizamos uno de los aspectos menos conocidos de la historia rural bonaerense: los ejidos de los pueblos de campaña. Estos espacios se conformaron a medida que la colonización avanzaba, primero de manera espontánea y luego por iniciativa estatal, con el objetivo de asentar a los pobladores alrededor de los centros poblados y fomentar el cultivo. Así, a diferencia de otros espacios de colonización española, los ejidos constituyeron las áreas donde se establecieron los solares, las quintas y las chacras. La historiografía tradicional reparó muy poco en ellos y cuando lo hizo, fue desde una óptica que contraponía la primera parte del siglo XIX con la expansión posterior a Pavón. Dentro de esta lógica, los pueblos rurales fueron descriptos como espacios rudimentarios y sus habitantes casi no fueron tenidos en cuenta puesto que la mirada centrada en la "estancia" opacó cualquier interés sobre los labradores y pastores que habitaban en estos espacios. En contrapartida, el período posterior fue caracterizado como de despegue de la economía exportadora y desarrollo de las instituciones. Desde ese momento los poblados habrían cobrado nueva vida convirtiéndose en importantes núcleos de población incentivados por la llegada de la inmigración. Para desandar estos supuestos, estudiamos específicamente la historia del ejido de la Guardia de Luján (Mercedes) desde el momento en que se creó el fuerte hasta 1870. Cada uno de los capítulos se estructuró en torno a núcleos problemáticos generales que fueron abordados desde lo local: la propiedad, los labradores, el mercado de tierras, la estructura productiva y la construcción del estado. El estudio demuestra la imposibilidad de definir la estructura productiva de un partido completamente sin tener en cuenta a los ejidos puesto que se puede incurrir en generalizaciones erróneas. Además, el período abarcado y los temas seleccionados permitieron reconocer los cambios y continuidades que se produjeron en estos espacios durante la transición a la Argentina Moderna.

El microrrelato como fragmento de un amplio conjunto narrativo en Bartleby y compañía de Enrique Vila-Matas

En Bartleby y compañía Enrique Vila-Matas reúne un gran número de relatos breves y brevísimos de escritores que en cierto momento de su vida dejaron de escribir. La autonomía de estos 'microrrelatos' es parecida a la de los relatos orales que los autores/editores de los siglos XV y XVI reunían en antologías y colecciones de cuentos o libros de caballería y de pastores. Mientras que la invención de la imprenta facilita el desarrollo de texturas más enredadas y un sutil sistema de subordinaciones que confieren una creciente coherencia a amplios conjuntos narrativos, Enrique Vila-Matas opta por una estructura esencialmente paratáctica. Mediante un juego de alusiones a una multitud de hipotextos, esta estructura sugiere un estado de fragmentación y una libertad de asociación que ilustra la temática central del libro, el rechazo de una 'literatura alimenticia' a favor de la literatura del No.