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Recruiting Latino and Non-Latino Families in Pediatric Research: Considerations from a Study on Childhood Disability

Kao, Barbara; Lobato, Debra; Grullon, Edicta; Cheas, Lydia; Plante, Wendy; Seifer, Ronald; Canino, Glorisa
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Artigo de Revista Científica
EN
Relevância na Pesquisa
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Objective To improve representation of minorities in research, we examined recruitment methods from our study of Latino and non-Latino families of children with Intellectual Disability (ID). Method We compared recruitment strategies that yielded the enrollment target of 200 matched Latino and nonLatino families of children with ID and controls. Active recruitment strategies involved direct contact with potential participants; passive strategies included disseminating study information. Results Effective outreach focused on community agencies where children had ongoing involvement and utilizing bilingual/bicultural staff. Latino families were significantly more likely to be recruited by an active strategy than non-Latino families. Active and passive strategies were both effective with non-Latino ID families. Asking research participants to inform other families about the study and sharing consent to contact lists with other investigators was productive with control families. Conclusions Bilingual staff and active recruitment through familiar community services were successful in recruiting Latino families for research.

New families of human regulatory RNA structures identified by comparative analysis of vertebrate genomes

Parker, Brian J.; Moltke, Ida; Roth, Adam; Washietl, Stefan; Wen, Jiayu; Kellis, Manolis; Breaker, Ronald; Pedersen, Jakob Skou
Fonte: Cold Spring Harbor Laboratory Press Publicador: Cold Spring Harbor Laboratory Press
Tipo: Artigo de Revista Científica
Publicado em /11/2011 EN
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Regulatory RNA structures are often members of families with multiple paralogous instances across the genome. Family members share functional and structural properties, which allow them to be studied as a whole, facilitating both bioinformatic and experimental characterization. We have developed a comparative method, EvoFam, for genome-wide identification of families of regulatory RNA structures, based on primary sequence and secondary structure similarity. We apply EvoFam to a 41-way genomic vertebrate alignment. Genome-wide, we identify 220 human, high-confidence families outside protein-coding regions comprising 725 individual structures, including 48 families with known structural RNA elements. Known families identified include both noncoding RNAs, e.g., miRNAs and the recently identified MALAT1/MEN β lincRNA family; and cis-regulatory structures, e.g., iron-responsive elements. We also identify tens of new families supported by strong evolutionary evidence and other statistical evidence, such as GO term enrichments. For some of these, detailed analysis has led to the formulation of specific functional hypotheses. Examples include two hypothesized auto-regulatory feedback mechanisms: one involving six long hairpins in the 3′-UTR of MAT2A...

Narrowing the income gaps in preventive care for young children: Families in healthy steps

McLearn, Kathryn Taafe; Strobino, Donna M.; Minkovitz, Cynthia S.; Marks, Elisabeth; Bishai, David; Hou, William
Fonte: Springer-Verlag Publicador: Springer-Verlag
Tipo: Artigo de Revista Científica
Publicado em /12/2004 EN
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Persistent unmet preventive and developmental health care needs of children in low-income families are a national concern. Recently, there have been efforts to promote developmental services as part of primary care for all young children. However, there is limited research to determine whether the neediest families are well in universal interventions. In our study, we assessed if disparities persist in utilization of developmental services, well child care, and satisfaction with care among low-, middle-, and high-income families participating in Healthy Steps for Young Children. Healthy Steps is a national experiment that incorporated developmental services into primary care for children from birth to 3 years of age. In the United States, 15 pediatric practices participated in this prospective study. At birth, 2,963 children were enrolled between September 1996 and November 1998 and followed through 33 months of age. The utilization of developmental services, satisfaction with care, and receipt of age-appropriate well child visits were measured at 30–33 months and adjusted for demographic and economic covariates. We found that the adjusted odds of low-income families did not differ from high-income families in receipt of four or more Healthy Steps services...

A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin

Borelli, Iolanda; Barberis, Marco A; Spina, Francesca; Cavalchini, Guido C Casalis; Vivanet, Caterina; Balestrino, Luisa; Micheletti, Monica; Allavena, Anna; Sala, Paola; Carcassi, Carlo; Pasini, Barbara
Fonte: Nature Publishing Group Publicador: Nature Publishing Group
Tipo: Artigo de Revista Científica
EN
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Lynch syndrome is an autosomal-dominant hereditary condition predisposing to the development of specific cancers, because of germline mutations in the DNA-mismatch repair (MMR) genes. Large genomic deletions represent a significant fraction of germline mutations, particularly among the MSH2 gene, in which they account for 20% of the mutational spectrum. In this study we analyzed 13 Italian families carrying MSH2 exon 8 deletions, 10 of which of ascertained Sardinian origin. The overrepresentation of Sardinians was unexpected, as families from Sardinia account for a small quota of MMR genes mutation tests performed in our laboratory. The hypothesis that such a result is owing to founder effects in Sardinia was tested by breakpoint junctions sequencing and haplotype analyses. Overall, five different exon eight deletions were identified, two of which recurrent in families, all apparently unrelated, of Sardinian origin (one in eight families, one in two families). The c.1277–1180_1386+2226del3516insCATTCTCTTTGAAAA deletion shares the same haplotype between all families and appears so far restricted to the population of South-West Sardinia, showing the typical features of a founder effect. The three non-Sardinian families showed three different breakpoint junctions and haplotypes...

Slow Co-Evolution of the MAGO and Y14 Protein Families Is Required for the Maintenance of Their Obligate Heterodimerization Mode

Gong, Pichang; Zhao, Man; He, Chaoying
Fonte: Public Library of Science Publicador: Public Library of Science
Tipo: Artigo de Revista Científica
Publicado em 08/01/2014 EN
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The exon junction complex (EJC) plays important roles in RNA metabolisms and the development of eukaryotic organisms. MAGO (short form of MAGO NASHI) and Y14 (also Tsunagi or RBM8) are the EJC core components. Their biological roles have been well investigated in various species, but the evolutionary patterns of the two gene families and their protein-protein interactions are poorly known. Genome-wide survey suggested that the MAGO and Y14 two gene families originated in eukaryotic organisms with the maintenance of a low copy. We found that the two protein families evolved slowly; however, the MAGO family under stringent purifying selection evolved more slowly than the Y14 family that was under relative relaxed purifying selection. MAGO and Y14 were obliged to form heterodimer in a eukaryotic organism, and this obligate mode was plesiomorphic. Lack of binding of MAGO to Y14 as functional barrier was observed only among distantly species, suggesting that a slow co-evolution of the two protein families. Inter-protein co-evolutionary signal was further quantified in analyses of the Tol-MirroTree and co-evolution analysis using protein sequences. About 20% of the 41 significantly correlated mutation groups (involving 97 residues) predicted between the two families was clade-specific. Moreover...

Systematic Identification and Evolutionary Analysis of Catalytically Versatile Cytochrome P450 Monooxygenase Families Enriched in Model Basidiomycete Fungi

Syed, Khajamohiddin; Shale, Karabo; Pagadala, Nataraj Sekhar; Tuszynski, Jack
Fonte: Public Library of Science Publicador: Public Library of Science
Tipo: Artigo de Revista Científica
Publicado em 22/01/2014 EN
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Genome sequencing of basidiomycetes, a group of fungi capable of degrading/mineralizing plant material, revealed the presence of numerous cytochrome P450 monooxygenases (P450s) in their genomes, with some exceptions. Considering the large repertoire of P450s found in fungi, it is difficult to identify P450s that play an important role in fungal metabolism and the adaptation of fungi to diverse ecological niches. In this study, we followed Sir Charles Darwin’s theory of natural selection to identify such P450s in model basidiomycete fungi showing a preference for different types of plant components degradation. Any P450 family comprising a large number of member P450s compared to other P450 families indicates its natural selection over other P450 families by its important role in fungal physiology. Genome-wide comparative P450 analysis in the basidiomycete species, Phanerochaete chrysosporium, Phanerochaete carnosa, Agaricus bisporus, Postia placenta, Ganoderma sp. and Serpula lacrymans, revealed enrichment of 11 P450 families (out of 68 P450 families), CYP63, CYP512, CYP5035, CYP5037, CYP5136, CYP5141, CYP5144, CYP5146, CYP5150, CYP5348 and CYP5359. Phylogenetic analysis of the P450 family showed species-specific alignment of P450s across the P450 families with the exception of P450s of Phanerochaete chrysosporium and Phanerochaete carnosa...

Genome-Wide Comparative Analysis of 20 Miniature Inverted-Repeat Transposable Element Families in Brassica rapa and B. oleracea

Sampath, Perumal; Murukarthick, Jayakodi; Izzah, Nur Kholilatul; Lee, Jonghoon; Choi, Hong-Il; Shirasawa, Kenta; Choi, Beom-Soon; Liu, Shengyi; Nou, Ill-Sup; Yang, Tae-Jin
Fonte: Public Library of Science Publicador: Public Library of Science
Tipo: Artigo de Revista Científica
Publicado em 18/04/2014 EN
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Miniature inverted-repeat transposable elements (MITEs) are ubiquitous, non-autonomous class II transposable elements. Here, we conducted genome-wide comparative analysis of 20 MITE families in B. rapa, B. oleracea, and Arabidopsis thaliana. A total of 5894 and 6026 MITE members belonging to the 20 families were found in the whole genome pseudo-chromosome sequences of B. rapa and B. oleracea, respectively. Meanwhile, only four of the 20 families, comprising 573 members, were identified in the Arabidopsis genome, indicating that most of the families were activated in the Brassica genus after divergence from Arabidopsis. Copy numbers varied from 4 to 1459 for each MITE family, and there was up to 6-fold variation between B. rapa and B. oleracea. In particular, analysis of intact members showed that whereas eleven families were present in similar copy numbers in B. rapa and B. oleracea, nine families showed copy number variation ranging from 2- to 16-fold. Four of those families (BraSto-3, BraTo-3, 4, 5) were more abundant in B. rapa, and the other five (BraSto-1, BraSto-4, BraTo-1, 7 and BraHAT-1) were more abundant in B. oleracea. Overall, 54% and 51% of the MITEs resided in or within 2 kb of a gene in the B. rapa and B. oleracea genomes...

The Holozoan Capsaspora owczarzaki Possesses a Diverse Complement of Active Transposable Element Families

Carr, Martin; Suga, Hiroshi
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Artigo de Revista Científica
Publicado em 02/04/2014 EN
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Capsaspora owczarzaki, a protistan symbiont of the pulmonate snail Biomphalaria glabrata, is the centre of much interest in evolutionary biology due to its close relationship to Metazoa. The whole genome sequence of this protist has revealed new insights into the ancestral genome composition of Metazoa, in particular with regard to gene families involved in the evolution of multicellularity. The draft genome revealed the presence of 23 families of transposable element, made up from DNA transposon as well as long terminal repeat (LTR) and non-LTR retrotransposon families. The phylogenetic analyses presented here show that all of the transposable elements identified in the C. owczarzaki genome have orthologous families in Metazoa, indicating that the ancestral metazoan also had a rich diversity of elements. Molecular evolutionary analyses also show that the majority of families has recently been active within the Capsaspora genome. One family now appears to be inactive and a further five families show no evidence of current transposition. Most individual element copies are evolutionarily young; however, a small proportion of inserts appear to have persisted for longer in the genome. The families present in the genome show contrasting population histories and appear to be in different stages of their life cycles. Transcriptome data have been analyzed from multiple stages in the C. owczarzaki life cycle. Expression levels vary greatly both between families and between different stages of the life cycle...

Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

Shafique, Sobia; Siddiqi, Saima; Schraders, Margit; Oostrik, Jaap; Ayub, Humaira; Bilal, Ammad; Ajmal, Muhammad; Seco, Celia Zazo; Strom, Tim M.; Mansoor, Atika; Mazhar, Kehkashan; Shah, Syed Tahir A.; Hussain, Alamdar; Azam, Maleeha; Kremer, Hannie; Qama
Fonte: Public Library of Science Publicador: Public Library of Science
Tipo: Artigo de Revista Científica
Publicado em 20/06/2014 EN
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The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafness. In the present study a cohort of 30 ARNSHL families was initially screened for mutations in GJB2 and MYO15A. Homozygosity mapping was performed by employing whole genome single nucleotide polymorphism (SNP) genotyping in the families that did not carry mutations in GJB2 or MYO15A. Mutation analysis was performed for the known ARNSHL genes present in the homozygous regions to determine the causative mutations. This allowed the identification of a causative mutation in all the 30 families including 9 novel mutations, which were identified in 9 different families (GJB2 (c.598G>A, p.Gly200Arg); MYO15A (c.9948G>A, p.Gln3316Gln; c.3866+1G>A; c.8767C>T, p.Arg2923* and c.8222T>C, p.Phe2741Ser), TMC1 (c.362+18A>G), BSND (c.97G>C, p.Val33Leu), TMPRSS3 (c.726C>G, p.Cys242Trp) and MSRB3 (c.20T>G, p.Leu7Arg)). Furthermore, 12 recurrent mutations were detected in 21 other families. The 21 identified mutations included 10 (48%) missense changes, 4 (19%) nonsense mutations, 3 (14%) intronic mutations...

Family Size Evolution in Drosophila Chemosensory Gene Families: A Comparative Analysis with a Critical Appraisal of Methods

Almeida, Francisca C.; Sánchez-Gracia, Alejandro; Campos, Jose Luis; Rozas, Julio
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Artigo de Revista Científica
Publicado em 19/06/2014 EN
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Gene turnover rates and the evolution of gene family sizes are important aspects of genome evolution. Here, we use curated sequence data of the major chemosensory gene families from Drosophila—the gustatory receptor, odorant receptor, ionotropic receptor, and odorant-binding protein families—to conduct a comparative analysis among families, exploring different methods to estimate gene birth and death rates, including an ad hoc simulation study. Remarkably, we found that the state-of-the-art methods may produce very different rate estimates, which may lead to disparate conclusions regarding the evolution of chemosensory gene family sizes in Drosophila. Among biological factors, we found that a peculiarity of D. sechellia’s gene turnover rates was a major source of bias in global estimates, whereas gene conversion had negligible effects for the families analyzed herein. Turnover rates vary considerably among families, subfamilies, and ortholog groups although all analyzed families were quite dynamic in terms of gene turnover. Computer simulations showed that the methods that use ortholog group information appear to be the most accurate for the Drosophila chemosensory families. Most importantly, these results reveal the potential of rate heterogeneity among lineages to severely bias some turnover rate estimation methods and the need of further evaluating the performance of these methods in a more diverse sampling of gene families and phylogenetic contexts. Using branch-specific codon substitution models...

Genome-Wide Analysis Reveals Diverged Patterns of Codon Bias, Gene Expression, and Rates of Sequence Evolution in Picea Gene Families

De La Torre, Amanda R.; Lin, Yao-Cheng; Van de Peer, Yves; Ingvarsson, Pär K.
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Artigo de Revista Científica
Publicado em 05/03/2015 EN
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The recent sequencing of several gymnosperm genomes has greatly facilitated studying the evolution of their genes and gene families. In this study, we examine the evidence for expression-mediated selection in the first two fully sequenced representatives of the gymnosperm plant clade (Picea abies and Picea glauca). We use genome-wide estimates of gene expression (>50,000 expressed genes) to study the relationship between gene expression, codon bias, rates of sequence divergence, protein length, and gene duplication. We found that gene expression is correlated with rates of sequence divergence and codon bias, suggesting that natural selection is acting on Picea protein-coding genes for translational efficiency. Gene expression, rates of sequence divergence, and codon bias are correlated with the size of gene families, with large multicopy gene families having, on average, a lower expression level and breadth, lower codon bias, and higher rates of sequence divergence than single-copy gene families. Tissue-specific patterns of gene expression were more common in large gene families with large gene expression divergence than in single-copy families. Recent family expansions combined with large gene expression variation in paralogs and increased rates of sequence evolution suggest that some Picea gene families are rapidly evolving to cope with biotic and abiotic stress. Our study highlights the importance of gene expression and natural selection in shaping the evolution of protein-coding genes in Picea species...

Nearly Half of Families In High-Deductible Health Plans Whose Members Have Chronic Conditions Face Substantial Financial Burden

Galbraith, Alison A.; Ross-Degnan, Dennis; Soumerai, Stephen B.; Rosenthal, Meredith B.; Gay, Charlene; Lieu, Tracy A.
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /02/2011 EN
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26.37%
High-deductible health plans – typically with deductibles of at least $1,000 per individual and $2,000 per family -- require greater enrollee cost sharing than traditional plans. But they also may provide more affordable premiums and may be the lowest-cost, or only, coverage option for many families with members who are chronically ill. We surveyed families with chronic conditions in high-deductible plans and families in traditional plans to compare health care-related financial burden – such as experiencing difficulty paying medical or basic bills or having to set up payment plans. Almost half (48 percent) of the families with chronic conditions in high-deductible plans reported health care-related financial burden, compared to a fifth of families (21 percent) in traditional plans. Almost twice as many lower-income families in high-deductible plans spent more than 3 percent of income on health care expenses as lower-income families in traditional plans (53 percent versus 29 percent). As health reform efforts advance, policy makers must consider how to modify high-deductible plans to reduce the financial burden for families with chronic conditions.

Selection of sugar cane families by using BLUP and multi-diverse analyses for planting in the Brazilian savannah

BARBOSA, M. H. P.; FERREIRA, A.; RESENDE, M. D. V. de; NASCIMENTO, M.; SILVA, F. F.
Fonte: Genetics and Molecular Research, v. 13, n. 1, p. 1619-1626, 2014. Publicador: Genetics and Molecular Research, v. 13, n. 1, p. 1619-1626, 2014.
Tipo: Artigo em periódico indexado (ALICE)
EN
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This study evaluated different strategies to select sugar cane families and obtain clones adapted to the conditions of the Brazilian savannah. Specifically, 7 experiments were conducted, with 10 full sub families, and 2 witnesses in common to all experiments, in each experiment. The plants were grown in random blocks, with witnesses in common (incomplete blocks), and 6 repetitions of each experiment. The data were analyzed through the methodology of mixed patterns, in which the matrices of kinship between the families were identified by the method of restricted maximum likelihood. The characteristics that were evaluated included soluble solids content (BRIX), BRIX ton/ha, average mass of a culm, number of culms/m, and tons of culms/ha. A multi-diverse alternative based on the analysis of groupings by using the UPGMA method was used to identify the most viable families for selection, when considering the genotypic effects on all characteristics. This method appeared suitable for the selection of families, with 5 family groups being formed. The families that formed Group 2 appeared superior to all other families for all the evaluated characteristics. It is recommended that the families in Group 2 are preferentially used in sugar cane improvement programs to obtain varieties optimally adapted to the conditions of the Brazilian savannah.; 2014

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

Stepp, M.; Cason, A.; Finnis, M.; Mangelsdorf, M.; Holinski-Feder, E.; Macgregor, D.; MacMillan, A.; Holden, J.; Gecz, J.; Stevenson, R.; Schwartz, C.
Fonte: BioMed Central Ltd. Publicador: BioMed Central Ltd.
Tipo: Artigo de Revista Científica
Publicado em //2005 EN
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BACKGROUND: X-linked mental retardation (XLMR) is the leading cause of mental retardation in males. Mutations in the ARX gene in Xp22.1 have been found in numerous families with both nonsyndromic and syndromic XLMR. The most frequent mutation in this gene is a 24 bp duplication in exon 2. Based on this fact, a panel of XLMR families linked to Xp22 was tested for this particular ARX mutation. METHODS: Genomic DNA from XLMR families linked to Xp22.1 was amplified for exon 2 in ARX using a Cy5 labeled primer pair. The resulting amplicons were sized using the ALFexpress automated sequencer. RESULTS: A panel of 11 families with X-linked mental retardation was screened for the ARX 24dup mutation. Four nonsyndromic XLMR families – MRX29, MRX32, MRX33 and MRX38 – were found to have this particular gene mutation. CONCLUSION: We have identified 4 additional XLMR families with the ARX dup24 mutation from a panel of 11 XLMR families linked to Xp22.1. This finding makes the ARX dup24 mutation the most common mutation in nonsyndromic XLMR families linked to Xp22.1. As this mutation can be readily tested for using an automated sequencer, screening should be considered for any male with nonsyndromic MR of unknown etiology.; Monica L Stepp, A Lauren Cason...

Aboriginal Families Study: a population-based study keeping community and policy goals in mind right from the start

Buckskin, M.; Ah Kit, J.; Glover, K.; Mitchell, A.; Miller, R.; Weetra, D.; Wiebe, J.; Yelland, J.; Newbury, J.; Robinson, J.; Brown, S.
Fonte: BioMed Central Ltd. Publicador: BioMed Central Ltd.
Tipo: Artigo de Revista Científica
Publicado em //2013 EN
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BACKGROUND: Australian Aboriginal and Torres Strait Islander women are between two to five times more likely to die in childbirth than non-Aboriginal women, and two to three times more likely to have a low birthweight infant. Babies with a low birthweight are more likely to have chronic health problems in adult life. Currently, there is limited research evidence regarding effective interventions to inform new initiatives to strengthen antenatal care for Aboriginal families. METHOD/DESIGN: The Aboriginal Families Study is a cross sectional population-based study investigating the views and experiences of Aboriginal and non-Aboriginal women having an Aboriginal baby in the state of South Australia over a 2-year period. The primary aims are to compare the experiences and views of women attending standard models of antenatal care with those accessing care via Aboriginal Family Birthing Program services which include Aboriginal Maternal Infant Care (AMIC) Workers as members of the clinical team; to assess factors associated with early and continuing engagement with antenatal care; and to use the information to inform strengthening of services for Aboriginal families. Women living in urban, regional and remote areas of South Australia have been invited to take part in the study by completing a structured interview or...

Argentina - Women Weaving Equitable Gender Relations; Argentina - Mujeres tejiendo relaciones de genero equitativas

Stubbs, Josefina
Fonte: World Bank, Washington, DC Publicador: World Bank, Washington, DC
Tipo: Publications & Research :: Brief; Publications & Research
ENGLISH
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In 2001, after a long period of recession, Argentina faced the greatest economic, political, and institutional crisis in its history. Unemployment reached levels nearing 18 percent and the poverty rate reached a peak of 58 percent in 2002, increasing twofold the number of people living the poverty line and impacting in a disproportionate manner the most vulnerable and poverty stricken families. The crisis also had a tremendous impact on Argentina's middle-class. Increased unemployment and the freezing of wages and bank deposits forced many families to face poverty for the first time, and to seek new survival strategies. The crisis caused the rupture of traditional roles within the household, forcing many women into the workforce, many young people to leave school in search of a job, and many traditional breadwinners to remain at home. In many cases, these changes challenged not just the economic viability of households but the role of families. Recognizing the potential impact of the situation, the Government of Argentina approached the World Bank for a small loan ($5 million)...

Representações de violência reveladas por crianças, adolescentes e suas famílias em situação de risco social : histórias e caminhos de resiliência; Representations of violence revealed by children, adolescents and their families at social risk : stories of resilience and paths

Eliane Cleonice Alves Precoma
Fonte: Biblioteca Digital da Unicamp Publicador: Biblioteca Digital da Unicamp
Tipo: Tese de Doutorado Formato: application/pdf
Publicado em 29/07/2011 PT
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A presente pesquisa investigou as representações de violência reveladas por crianças, adolescentes e suas famílias em situação de risco social. A investigação foi realizada com crianças e adolescentes abrigados na Chácara Meninos de 4 Pinheiros, organização nãogovernamental, localizada em Mandirituba, região metropolitana de Curitiba - Paraná - Brasil, e que abriga oitenta meninos que viveram situações de vulnerabilidade social. O protocolo de pesquisa, elaborado especialmente para esta investigação, é composto por sete histórias sobre violência, com vistas a caracterizar o ciclo de violências sofrido por crianças e adolescentes em situação de risco e de vulnerabilidade social. As histórias apresentam enredos sobre violência na família - violência psicológica, abuso físico e sexual; violência na rua - violência policial, consumo de drogas e violência cometida por turista; violência na escola e ato infracional cometido por adolescente. Para a coleta de dados foi utilizado o referido protocolo, aplicado de acordo com as orientações do método clínico crítico (PIAGET, 1978; 1994; 2002; DELVAL, 2001; 2002; ASSIS, 2002; 2005), as histórias foram apresentadas para crianças, adolescentes e membros de suas famílias...

Perspetivas das famílias no processo de avaliação das crianças com necessidades especiais em intervenção precoce

Magalhães, Sandra Isabel Fontoura Moutinho
Fonte: Universidade do Minho Publicador: Universidade do Minho
Tipo: Dissertação de Mestrado
Publicado em //2012 POR
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Dissertação de mestrado em Educação Especial (área de especialização em Intervenção Precoce); Este estudo procura contribuir para valorizar e elucidar acerca das perspetivas das mães relativamente à avaliação da sua criança, nas várias etapas que a constituem: planificação, condução e partilha dos resultados. Pretende-se assim conhecer as perspetivas das famílias relativamente aos apoios que recebem atualmente nas Equipas Locais de Intervenção (ELI), bem como perceber as expectativas das famílias para cada uma das etapas do processo de avaliação, pelo que foram selecionadas famílias que são apoiadas pelas ELI. Neste estudo, de natureza qualitativa, foram realizadas entrevistas semiestruturadas com cinco mães. Analisaram-se as perspetivas, opiniões e expectativas das mães em relação a cada uma das etapas do processo de avaliação, bem como em relação aos apoios atuais e anteriores na Intervenção Precoce (IP). Os resultados globais indicam que, na etapa da planificação, as famílias tiveram oportunidade de escolher dia, hora e local para a realização da avaliação e que houve preocupação pelos interesses da criança, no entanto, quanto à escolha dos instrumentos de avaliação a utilizar...

Clinical and immunogenetic characteristics of European multicase rheumatoid arthritis families

Balsa, A; Barrera, P; Westhovens, R; Alves, H; Maenaut, K; Pascual-Salcedo, D; Cornelis, F; Bardin, T; Riente, L; Radstake, T; de Almeida, G; Lepage, V; Stravopoulos, C; Spaepen, M; Lopes-Vaz, A; Charron, D; Martinez, M; Prudhomme, J; Migliorini, P; Fritz
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /06/2001 EN
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OBJECTIVE—To describe the characteristics of a new set of European families with affected sib pairs (ASP) collected by the European Consortium on Rheumatoid Arthritis Families (ECRAF) to replicate the results of our first genome scan. Potential gradients for disease severity in Europe and concordance within families were studied.
PATIENTS AND METHODS—From 1996 to 1998 European white families with at least two affected siblings were enrolled in the study. Demographic (sex, age at onset), clinical data (rheumatoid factor (RF), disease duration, erosive disease, extra-articular features (EF)), and HLA-DRB1 oligotyping were analysed.
RESULTS—565 patients with rheumatoid arthritis (RA), belonging to 271 families including 319 affected sib pairs (ASP) were collected. Belgium, France, Italy, the Netherlands, Portugal, and Spain contributed 20, 96, 52, 24, 9, and 70 families, respectively. Sex (78% women), age at onset (mean 44 years), and RF positivity (79%) were similar among the countries. Differences were found in disease duration (11-18 years) and in the prevalence of erosive disease (70-93%), nodules (15-44%), subjective Sjögren's syndrome (5-38%), and EF (3-16%) (p<0.05 in all cases). A total of 22% RA sibs were shared epitope (SE) negative...

The needs of members of the families of general hospital inpatients

Lucchese,Ana Cecília; Citero,Vanessa de Albuquerque; De Marco,Mario Alfredo; Andreoli,Sergio Baxter; Nogueira-Martins,Luiz Antonio
Fonte: Associação Paulista de Medicina - APM Publicador: Associação Paulista de Medicina - APM
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/03/2008 EN
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26.37%
CONTEXT AND OBJECTIVE: The needs of members of the families of intensive care unit patients have been studied, but little is known about the needs of members of the families of general hospital inpatients, especially patients with chronic diseases. The aim of this study was to identify the needs of members of the families of general hospital inpatients and investigate associations between these needs and the patients' clinical and psychiatric profiles. DESIGN AND SETTING: Descriptive study, in a public teaching hospital. METHODS: A random sample of 47 patients and members of their families was studied. Family members' needs were investigated using the critical care family needs inventory and the patients' clinical profiles were investigated using the hospital anxiety and depression scale, confusion assessment method and Karnofsky performance status. The frequencies of family members' needs were described and the patients' clinical and psychiatric characteristics were correlated with the needs using the chi-squared test. RESULTS: Chronic patients predominated and the needs for reassurance and information were indicated as the most important by all members of their families. No associations were found between the patients' characteristics and the needs of members of their families during the hospitalization. CONCLUSIONS: The needs indicated by members of the families of general hospital inpatients were similar to those of members of the families of patients in intensive care units: they considered it very important to be reassured and kept informed throughout the hospitalization.