O impacto do diagnóstico recente de cancro pediátrico nos rituais da família : a perspectiva das mães

Tese de mestrado, Psicologia (Secção de Psicologia Clínica e da Saúde, Núcleo de Psicologia Clínica Sistémica), Universidade de Lisboa, Faculdade de Psicologia, 2015

Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes

Background - Specific language impairment (SLI) is a common neurodevelopmental disorder, observed in 5–10 % of children. Family and twin studies suggest a strong genetic component, but relatively few candidate genes have been reported to date. A recent genome-wide association study (GWAS) described the first statistically significant association specifically for a SLI cohort between a missense variant (rs4280164) in the NOP9 gene and language-related phenotypes under a parent-of-origin model. Replications of these findings are particularly challenging because the availability of parental DNA is required. Methods - We used two independent family-based cohorts characterised with reading- and language-related traits: a longitudinal cohort (n = 106 informative families) including children with language and reading difficulties and a nuclear family cohort (n = 264 families) selected for dyslexia. Results - We observed association with language-related measures when modelling for parent-of-origin effects at the NOP9 locus in both cohorts: minimum P = 0.001 for phonological awareness with a paternal effect in the first cohort and minimum P = 0.0004 for irregular word reading with a maternal effect in the second cohort. Allelic and parental trends were not consistent when compared to the original study. Conclusions - A parent-of-origin effect at this locus was detected in both cohorts, albeit with different trends. These findings contribute in interpreting the original GWAS report and support further investigations of the NOP9 locus and its role in language-related traits. A systematic evaluation of parent-of-origin effects in genetic association studies has the potential to reveal novel mechanisms underlying complex traits.

Brazilian Social Segurity and Social Work: reflections on the Continuous Cash Benefit Programme

Guaranteed under the Federal Constitution of 1988, Brazilian social security covers rights relating to health, social welfare and social care. The Continuous Cash Benefit Programme (BPC) was approved as part of social care policy and is regulated under the Social Care Act (Ley Orgánica de Asistencia Social) of 1993. This benefit guarantees a minimum monthly income for persons with disabilities and for older adults. Certain requirements must be satisfied in order to obtain the assistance: medical and social assessment of disabled persons, a minimum age of 65 years for older adults, and, in both cases, the value of per capita income for the nuclear family in question, which must be lower than a quarter of the minimum wage. Regulation of the BPC has incorporated advances and setbacks in terms of legislation and implementation. In this framework, this article presents a theoretical reflection, an analysis of the legislation on the matter, and some reflections on the challenges that it poses for social workers.

La estructura familiar dibujada por los propios niños/as. Una aproximación al dibujo como mediador social en las relaciones sistémicas familiares

Con esta investigación se pretende analizar la idea de familia que tienen los niños/as en la actualidad y cómo la representan a través del dibujo infantil. El estudio ha sido realizado a partir de un muestreo realizado a niños/as de entre 4 y 6 años, extraído de tres escuelas, dos públicas y una privada en Granada (España). La investigación mantiene un carácter cualitativo. Para la realización del mismo hemos utilizado los siguientes procedimientos: recopilación de 100 dibujos, otras tantas entrevistas grabadas en audio, observación visual y notas de campo. Nos aseguramos así un seguimiento tanto del proceso creativo como de la propia opinión de los infantes. En la investigación, los niños/as mostraron plásticamente una idea de familia nuclear, de cuyos progenitores, el padre fue representado apenas participando en las tareas del hogar; mientras que la madre se representó asociada a las tareas domésticas y al cuidado de sus hijos. Sobre otras realidades familiares, en concreto la familia homosexual, carecen absolutamente de referencias.

Motivação para amamentação em função da escolaridade materna

Enquadramento: Atualmente a prevalência da amamentação à saída da maternidade é elevada, no entanto não temos valores semelhantes quanto ao aleitamento materno exclusivo, nem no seu prolongamento até aos dois anos. Objetivos: Verificar as relações entre a motivação das puérperas para a amamentação e variáveis sociodemográficas e obstétricas e analisar a influência das variáveis sociodemográficas e obstétricas na motivação para a amamentação quando mediadas pela escolaridade da puérpera. Material e métodos: Estudo não experimental, quantitativo, descritivo correlacional e analítico. O tipo de amostragem é não probabilístico por conveniência. O instrumento de colheita de dados foi o questionário, aplicado a 479 puérperas (média de idade 30,56 anos) no dia da alta hospitalar. O questionário permitiu fazer a caracterização da amostra em termos sociodemográficos e obstétricos. Foi ainda utilizada a escala de Motivação para Amamentação de Nelas, Ferreira & Duarte (2008). Resultados: Os resultados obtidos revelam que 86,6% são casadas ou vivem em união de fato e pertencem a uma família nuclear (89,1%). Na amostra, 59,5% tem o Ensino Superior e 73.9% encontra-se empregada e 55,3% reside em meio urbano. A maioria (43,0%), esteve grávida só uma vez e 34.4% já tinha tido uma gestação anterior. São mães pela primeira vez 48,0%, 79,3% realizou seis ou mais consultas tal como o preconizado, e 92,4% planeou a gravidez. A maioria dos partos foi de termo (68,4%). A quase totalidade (9 em cada 10) revela elevada motivação para amamentar. A idade, o estado civil, a residência e as habilitações literárias não influenciam a motivação geral para a amamentação As puérperas desempregadas são as mais motivadas. As puérperas mais motivadas tiveram duas ou mais gestações, e são multíparas. Não foi provada a relação entre as outras variáveis obstétricas e a motivação para a amamentação. A variável mediadora apenas teve impacto com o local de residência, onde as participantes residentes em meio urbano e com ensino superior são as mais motivadas na dimensão fisiológica, seguidas das residentes em meio urbano e com habilitações literárias até ao ensino secundário. Conclusões: Sugerimos a criação de um grupo de trabalho com atuação na comunidade escolar para capacitar os jovens sobre a importância do aleitamento materno, recriando uma 8 cultura de amamentação assente nas orientações emanadas na política de aleitamento materno dos Hospitais amigos dos bebés. Palavras-chave: Amamentação, Motivação, Escolaridade.

The healing power of grandparents who parent

This paper explores the changing role of contemporary grandparents with many demonstrating a willingness and ability to take on parental responsibilities for their grandchildren, where they may face challenges and opportunities in difficult times. Three main forms of grand parenting are identified in the literature, those who hâve primary responsibility and are raising their grand children as their main carers perhaps in response to crisis situations, those who live in extended families and participate in care, and those who provide day care while the child's parents work. The rôle of Grandparents encompasses ail three areas in the United Kingdom. This has occurred as a resuit of the increased récognition of children living in abusive families, of the increasing frequency of divorce, single parenting, children and families living in poverty, socio-economic deprivation and the lack of available or subsidised child care in the United Kingdom when parents hâve to work to support the family. Ail of this against the backdrop the Every Child Matters change for children Agenda. When grandparents step into a troubled situation and attempt to offer stability and security for their grandchildren they may hâve to manage the combined responsibilities of family caregivers and parental figures. Grandparenthood is atenuous rôle, lacking clear agreement on behaviour norms. In the current culture of advice and parenting support, while care must be taken not to undermine parenting skills or make judgements about the ability to cope with the demands of childcare, an exploration of the impact on grandparents, and children in the context of families must be undertaken. Due to the complex web of interrelated factors the process and outcomes of care giving by grandparents is not well known in the literature. It is proposed therefore that it is timely to explore the impact of this on the health of children and their families in the current climate of change when there has been dissolution of the nuclear family and grandparents are playing increasingly significant rôles in healing and supporting their families.

The Bereaved Post-9/11 Orphan Boy : Representing (and Relativizing) Crisis and Healing, Tradition and Invention

This article compares the sorrowing child in Jonathan Safran Foer’s Extremely Loud and Incredibly Close (2005) and Brian Selznick’s The Invention of Hugo Cabret (2007), which break traditional novelistic frames through their use of visual material. Through their employment of the orphan figure and their inventive, experimental formal aspects, both Foer’s and Selznick’s novels work as interventions in the debate about the role of fiction after 9/11. Steering clear of a never-ending state of orphanhood, or a return to the nuclear family ideal of the 1950s, they offer different solutions to the family crisis triggered by the loss of a father in a burning building, and, by extension, to the national crisis triggered by 9/11. The bond between father and son that the novels portray represents an affective masculinity that is in line with the emotional narrative work that the two orphan boys perform in the plot and for the readers, which is similar to that of orphan girls in earlier American fiction. In addition to fulfilling the time-honored function of the orphan healing the adult world in a crisis-laden present, Foer’s Oskar and Selznick’s Hugo are post-9/11 “inventions” that highlight the uses of invention in a post-9/11 world.

La protección social de las familias monoparentales en la ciudad de Bogotá 1991 -2015: una realidad más allá de la ley

Con el paso y las transformaciones sociales, políticas y legales que implica una constituyente, en este caso la del 91, que daba nacimiento a la constitución del mismo año, se originó además una transición hacia un Estado social de derecho, pluriétnico y laico, el cual planteaba un discurso de diversidad e inclusión de la diferencia en diferentes aspectos de la vida social. Sin embargo, en el caso de la familia, esta constitución no representó cambios respecto al discurso estructura y funciones en la sociedad, pues perpetuaba el discurso familista, de una única forma legítima de familia: la nuclear patriarcal, implicando una falta de reconocimiento de la diversidad familiar en Colombia y provocando a su vez una afectación en la atención y protección social de las familias no reconocidas en Colombia. Tal es el caso de las familias monoparentales, cuya estructura no se corresponde a este discurso ideal de familia y gracias a su falta de reconocimiento tanto legal como social, la atención y protección social que reciben por parte del Estado, a través de las instituciones públicas de protección familiar, es parcializada a las jefaturas monoparentales femeninas, al igual de estigmatizadas. Pese a esto, desde 2013, ante la actual coyuntura de reivindicaciones sociales que buscan el reconocimiento de la diversidad de la familia en el país, han surgido mecanismos legales por parte de la corte constitucional, así como nuevas políticas de familia tanto a nivel nacional, como local, que están haciendo sus primeros acercamientos a lo que es la diversidad familiar y a cómo incluir y proteger a las familias. A lo largo del contacto con las instituciones públicas de protección familiar, donde se mostraron nuevas alternativas y avances que aunque representativos, aun no son suficientes, persistiendo la invisibilización tanto social como legal y una protección social parcializada de las familias monoparentales.

Homophobia and the oppressive naturalized practice: A critical discourse analysis.

This paper seeks to analyze the statements of a teacher of basic education in the city of Cocalinho-MT on homosexuality. I try to identify possible ideological traits through the theoretical framework of Critical Discourse Analysis (Fairclough, 2003a), with support from Systemic Functional Linguistics (Halliday, 1994). The analytical categories used are representational meaning, interdiscursivity and ideational metafunction. The studies of Rios (2009), Louro (2000, 2010) and Borrillo (2009) are used for the conceptualization of issues related to gender, sexuality and homophobia. The results show the presence of discourses that contribute to the strengthening of homophobia as oppressive naturalized practice, as the silencing of diversity discourse, the heteronormative and the nuclear family discourse. I make a reflection, to deconstruct these discourses that we educators can take advantage of rights and duties without hiding in a heteronormative profile for fear of suffer with the physical and psychological prejudice.

Molecular phylogenetics of the family Cyprinidae (Actinopterygii : Cypriniformes) as evidenced by sequence variation in the first intron of S7 ribosomal protein-coding gene: Further evidence from a nuclear gene of the systematic chaos in the family

The family Cyprinidae is the largest freshwater fish group in the world, including over 200 genera and 2100 species. The phylogenetic relationships of major clades within this family are simply poorly understood, largely because of the overwhelming diversity of the group; however, several investigators have advanced different hypotheses of relationships that pre- and post-date the use of shared-derived characters as advocated through phylogenetic systematics. As expected, most previous investigations used morphological characters. Recently, mitochondrial DNA (mtDNA) sequences and combined morphological and mtDNA investigations have been used to explore and advance our understanding of species relationships and test monophyletic groupings. Limitations of these studies include limited taxon sampling and a strict reliance upon maternally inherited mtDNA variation. The present study is the first endeavor to recover the phylogenetic relationships of the 12 previously recognized monophyletic subfamilies within the Cyprinidae using newly sequenced nuclear DNA (nDNA) for over 50 species representing members of the different previously hypothesized subfamily and family groupings within the Cyprinidae and from other cypriniform families as outgroup taxa. Hypothesized phylogenetic relationships are constructed using maximum parsimony and Basyesian analyses of 1042 sites, of which 971 sites were variable and 790 were phylogenetically informative. Using other appropriate cypriniform taxa of the families Catostomidae (Myxocyprinus asiaticus), Gyrinocheilidae (Gyrinocheilus aymonieri), and Balitoridae (Nemacheilus sp. and Beaufortia kweichotvensis) as outgroups, the Cyprinidae is resolved as a monophyletic group. Within the family the genera Raiamas, Barilius, Danio, and Rasbora, representing many of the tropical cyprinids, represent basal members of the family. All other species can be classified into variably supported and resolved monophyletic lineages, depending upon analysis, that are consistent with or correspond to Barbini and Leuciscini. The Barbini includes taxa traditionally aligned with the subfamily Cyprininae sensu previous morphological revisionary studies by Howes (Barbinae, Labeoninae, Cyprininae and Schizothoracinae). The Leuciscini includes six other subfamilies that are mainly divided into three separate lineages. The relationships among genera and subfamilies are discussed as well as the possible origins of major lineages. (c) 2008 Published by Elsevier Inc.

Functional interplay of SP family members and nuclear factor Y is essential for transcriptional activation of the human Calreticulin gene

Calreticulin (CALR) is a highly conserved, multifunctional protein involved in a variety of cellular processes including the maintenance of intracellular calcium homeostasis, proper protein folding, differentiation and immunogenic cell death. More recently, a crucial role for CALR in the pathogenesis of certain hematologic malignancies was discovered: in clinical subgroups of acute myeloid leukemia, CALR overexpression mediates a block in differentiation, while somatic mutations have been found in the majority of patients with myeloproliferative neoplasms with nonmutated Janus kinase 2 gene (JAK2) or thrombopoietin receptor gene (MPL). However, the mechanisms underlying CALR promoter activation have insufficiently been investigated so far. By dissecting the core promoter region, we could identify a functional TATA-box relevant for transcriptional activation. In addition, we characterized two evolutionary highly conserved cis-regulatory modules (CRMs) within the proximal promoter each composed of one binding site for the transcription factors SP1 and SP3 as well as for the nuclear transcription factor Y (NFY) and we verified binding of these factors to their cognate sites in vitro and in vivo.

A member of the Ran-binding protein family, Yrb2p, is involved in nuclear protein export

Yeast cells mutated in YRB2, which encodes a nuclear protein with similarity to other Ran-binding proteins, fail to export nuclear export signal (NES)-containing proteins including HIV Rev out of the nucleus. Unlike Xpo1p/Crm1p/exportin, an NES receptor, Yrb2p does not shuttle between the nucleus and the cytoplasm but instead remains inside the nucleus. However, by both biochemical and genetic criteria, Yrb2p interacts with Xpo1p and not with other members of the importin/karyopherin β superfamily. Moreover, the Yrb2p region containing nucleoporin-like FG repeats is important for NES-mediated protein export. Taken together, these data suggest that Yrb2p acts inside the nucleus to mediate the action of Xpo1p in at least one of several nuclear export pathways.

The Interaction and Colocalization of Sam68 with the Splicing-associated Factor YT521-B in Nuclear Dots Is Regulated by the Src Family Kinase p59fyn

Alternative pre-mRNA splicing patterns can change an extracellular stimulus, but the signaling pathways leading to these changes are still poorly characterized. Here, we describe a tyrosine-phosphorylated nuclear protein, YT521-B, and show that it interacts with the nuclear transcriptosomal component scaffold attachment factor B, and the 68-kDa Src substrate associated during mitosis, Sam68. Northern blot analysis demonstrated ubiquitous expression, but detailed RNA in situ analysis revealed cell type specificity in the brain. YT521-B protein is localized in the nucleoplasm and concentrated in 5–20 large nuclear dots. Deletion analysis demonstrated that the formation of these dots depends on the presence of the amino-terminal glutamic acid-rich domain and the carboxyl-terminal glutamic acid/arginine-rich region. We show that the latter comprises an important protein–protein interaction domain. The Src family kinase p59fyn-mediated tyrosine phosphorylation of Sam68 negatively regulates its association with YT521-B, and overexpression of p59fyn dissolves nuclear dots containing YT521-B. In vivo splicing assays demonstrated that YT521-B modulates alternative splice site selection in a concentration-dependent manner. Together, our data indicate that YT521-B and Sam68 may be part of a signal transduction pathway that influences splice site selection.