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1.
BMC Pregnancy Childbirth ; 15: 19, 2015 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-25652186

RESUMO

BACKGROUND: The Strong Women, Strong Babies, Strong Culture Program (the Program) evolved from a recognition of the value of Aboriginal knowledge and practice in promoting maternal and child health (MCH) in remote communities of the Northern Territory (NT) of Australia. Commencing in 1993 it continues to operate today. In 2008, the NT Department of Health commissioned an evaluation to identify enabling factors and barriers to successful implementation of the Program, and to identify potential pathways for future development. In this paper we focus on the evaluation findings related specifically to the role of Aborignal cultural knowledge and practice within the Program. METHODS: A qualitative evaluation utilised purposive sampling to maximise diversity in program history and Aboriginal culture. Semi-structured, in-depth interviews with 76 participants were recorded in their preferred language with a registered Interpreter when required. Thematic analysis of data was verified or modified through further discussions with participants and members of the evaluation team. RESULTS: Although the importance of Aboriginal knowledge and practice as a fundamental component of the Program is widely acknowledged, there has been considerable variation across time and location in the extent to which these cultural dimensions have been included in practice. Factors contributing to this variation are complex and relate to a number of broad themes including: location of control over Program activities; recognition and respect for Aboriginal knowledge and practice as a legitimate component of health care; working in partnership; communication within and beyond the Program; access to transport and working space; and governance and organisational support. CONCLUSIONS: We suggest that inclusion of Aboriginal knowledge and practice as a fundamental component of the Program is key to its survival over more than twenty years despite serious challenges. Respect for the legitimacy of Aboriginal knowledge and practice within health care, a high level of community participation and control supported through effective governance and sufficient organisational commitment as well as competence in intercultural collaborative practice of health staff are critical requirements for realising the potential for cultural knowledge and practice to improve Aboriginal health outcomes.


Assuntos
Serviços de Saúde da Criança/organização & administração , Serviços de Saúde do Indígena , Melhoria de Qualidade/organização & administração , Serviços de Saúde da Mulher/organização & administração , Austrália , Criança , Saúde da Criança , Competência Cultural , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Serviços de Saúde do Indígena/organização & administração , Serviços de Saúde do Indígena/normas , Humanos , Serviços de Saúde Materno-Infantil/organização & administração , Serviços de Saúde Materno-Infantil/normas , Gravidez , Avaliação de Programas e Projetos de Saúde , Garantia da Qualidade dos Cuidados de Saúde/métodos , Saúde da Mulher
2.
Nat Genet ; 32(4): 661-5, 2002 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-12415272

RESUMO

Börjeson-Forssman-Lehmann syndrome (BFLS; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. Previously, the gene associated with BFLS was localized to 17 Mb in Xq26-q27 (refs 2-4). We have reduced this interval to roughly 9 Mb containing more than 62 genes. Among these, a novel, widely expressed zinc-finger (plant homeodomain (PHD)-like finger) gene (PHF6) had eight different missense and truncation mutations in seven familial and two sporadic cases of BFLS. Transient transfection studies with PHF6 tagged with green fluorescent protein (GFP) showed diffuse nuclear staining with prominent nucleolar accumulation. Such localization, and the presence of two PHD-like zinc fingers, is suggestive of a role for PHF6 in transcription.


Assuntos
Predisposição Genética para Doença , Deficiência Intelectual/genética , Mutação , Motivos de Aminoácidos , Sequência de Aminoácidos , Substituição de Aminoácidos , Animais , Nucléolo Celular/metabolismo , Núcleo Celular/metabolismo , Embrião de Mamíferos/metabolismo , Feminino , Proteínas de Fluorescência Verde , Células HeLa , Heterozigoto , Humanos , Proteínas Luminescentes/metabolismo , Masculino , Camundongos , Repetições de Microssatélites , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Linhagem , Mapeamento Físico do Cromossomo , Alinhamento de Sequência , Síndrome , Transfecção , Cromossomo X , Dedos de Zinco
3.
Am J Med Genet A ; 155A(7): 1673-9, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21626672

RESUMO

We describe a newborn female with a de novo interstitial deletion of chromosome 21q21.1-22.12 including the RUNX1 gene who had developmental delay, multiple congenital anomalies, tetralogy of Fallot, anemia, and chronic thromobocytopenia requiring frequent platelet transfusions from birth. Because of her physical and hematologic abnormalities, she was tested for Fanconi anemia (FA). Lymphocytes and fibroblasts from this patient demonstrated increased chromosome breakage with exposure to the clastogen mitomycin C, but not, in contrast to most FA patients, to diepoxybutane. Further testing by Western analysis and complementation testing did not show a defect in the function of known Fanconi proteins. Her constitutional deletion was later found to span 13.2 Mb by chromosome microarray analysis, encompassing the RUNX1 gene that has been implicated in thrombocytopenia and predisposition to acute myelogenous leukemia (AML) when in the haploinsufficient state. We compare her phenotype to other individuals with similar 21q deletions and thrombocytopenia, as well as those with FA. We suggest that deletion of RUNX1 or another critical gene within the deleted region may result in chromosomal instability similar to that seen in FA.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 21/genética , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Anemia de Fanconi/genética , Quebra Cromossômica/efeitos dos fármacos , Anemia de Fanconi/diagnóstico , Evolução Fatal , Feminino , Humanos , Lactente , Recém-Nascido , Cariotipagem , Mutagênicos/farmacologia , Fenótipo
4.
J Healthc Inf Manag ; 22(2): 43-7, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-19266994

RESUMO

The consumer/patient perspective is often forgotten as it pertains to the electronic health record. This paper focused on engaging the patient in the adoption of EHRs. The Louisville Health Information Exchange (LouHIE) recently completed an extensive research study on this topic, using several data gathering techniques to capture the interest, benefits, concerns and payment choices of the community. This article focuses on the findings of the study and the steps LouHIE will take to ensure consumer perspectives are being heard. Specific elements of the article include explaining the consumer research study and results; discussing the patient-related benefits of an EHR, the barriers, interests and the payment choices as described by the research group; and discussing action steps needed to continue engaging the consumer/patient in the adoption process.


Assuntos
Difusão de Inovações , Sistemas Computadorizados de Registros Médicos , Satisfação do Paciente , Grupos Focais , Pesquisas sobre Atenção à Saúde , Humanos
5.
DNA Repair (Amst) ; 3(5): 535-42, 2004 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-15084315

RESUMO

Fanconi anemia (FA) and cells lacking functional BRCA1 and BRCA2 proteins are hypersensitive to interstrand crosslinking (ICL) agents and show increased numbers of chromosomal breaks and radials. Although radial formation has been used to diagnose FA for more than 30 years, there has been little analysis of these characteristic formations. In this study, radials were analyzed from FA-A and FA-G fibroblasts as well as normal and retrovirally-corrected FA-A fibroblasts treated with high doses of ICLs. Radials were found to only involve non-homologous chromosome interactions and to be distributed nearly randomly along the length of chromosomes. Sites on chromosomes that did show increased frequency of radial involvement did not correlate with known fragile sites or pericentric regions. Hybrid radials were observed between mouse and human chromosomes in human-mouse hybrid cells produced by microcell-mediated chromosome transfer of mouse chromosomes into human FA-A fibroblasts. Both X and Y chromosomes were notably not involved in radials. These observations suggest that ICL repair may involve short stretches of homology, resulting in aberrant radial formation in the absence of FA proteins.


Assuntos
Aberrações Cromossômicas/induzido quimicamente , Cromossomos de Mamíferos/efeitos dos fármacos , Reagentes de Ligações Cruzadas/farmacologia , Anemia de Fanconi/genética , Cromossomos Sexuais/efeitos dos fármacos , Animais , Células Cultivadas , Cromossomos de Mamíferos/genética , Feminino , Humanos , Células Híbridas/metabolismo , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Camundongos , Homologia de Sequência do Ácido Nucleico , Cromossomos Sexuais/genética
6.
Hum Mutat ; 23(6): 576-81, 2004 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15146462

RESUMO

Multiple sulfatase deficiency (MSD) is a rare disorder characterized by impaired activity of all known sulfatases. The gene mutated in this disease is SUMF1, which encodes a protein involved in a post-translational modification at the catalytic site of all sulfatases that is necessary for their function. SUMF1 strongly enhances the activity of sulfatases when coexpressed with sulfatase in Cos-7 cells. We performed a mutational analysis of SUMF1 in 20 MSD patients of different ethnic origin. The clinical presentation of these patients was variable, ranging from severe neonatal forms to mild phenotypes showing mild neurological involvement. A total of 22 SUMF1 mutations were identified, including missense, nonsense, microdeletion, and splicing mutations. We expressed all missense mutations in culture to study their ability to enhance the activity of sulfatases. Of the predicted amino acid changes, 11 (p.R349W, p.R224W, p.L20F, p.A348P, p.S155P, p.C218Y, p.N259I, p.A279V, p.R349Q, p.C336R, p.A177P) resulted in severely impaired sulfatase-enhancing activity. Two (p.R345C and p.P266L) showed a high residual activity on some, but not all, of the nine sulfatases tested, suggesting that some SUMF1 mutations may have variable effects on the activity of each sulfatase. This study compares, for the first time, clinical, biochemical, and molecular data in MSD patients. Our results show lack of a direct correlation between the type of molecular defect and the severity of phenotype.


Assuntos
Mutação , Esfingolipidoses/genética , Sulfatases/genética , Animais , Células COS , Humanos , Oxirredutases atuantes sobre Doadores de Grupo Enxofre , Esfingolipidoses/enzimologia , Sulfatases/deficiência
7.
Health Promot Pract ; 5(3): 271-9, 2004 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15228782

RESUMO

Similar to many communities around the United States in the late 1990s, Muncie, Indiana, and the surrounding county created a year 2000 committee, called, "You and Year 2000, Inc.: The Muncie and Delaware County Millennium Project" to sponsor, plan, and conduct activities to celebrate the new millennium and ponder the community's past, present, and path to the future. Part of the Committee's planning was to create a legacy of the year-long celebration that would attack a community problem. Partnering with the local hospital, the Committee decided to attack the problem of cancer through a fund-raising campaign to build a cancer center and cancer education/screening program. The purpose of this article is to describe the application of a community organizing/building model used to create a community-wide cancer education/screening program and share the lessons learned (or relearned). The planning process used to develop the education/screening program is one that could be duplicated elsewhere.


Assuntos
Redes Comunitárias/organização & administração , Educação em Saúde/organização & administração , Programas de Rastreamento/organização & administração , Neoplasias/diagnóstico , Desenvolvimento de Programas/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Hospitais Comunitários , Humanos , Indiana , Masculino , Pessoa de Meia-Idade , Modelos Organizacionais , Neoplasias/prevenção & controle , Afiliação Institucional , Técnicas de Planejamento , Desenvolvimento de Programas/economia
10.
Am J Prev Med ; 40(5 Suppl 2): S123-33, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21521585

RESUMO

BACKGROUND: An enabling infrastructure for population-wide health information capture and transfer is beginning to emerge in the U.S. However, the essential infrastructure component that is still missing is effective health information exchange (HIE). Health record banks (HRBs) are one of several possible approaches to achieving HIE. Is the approach viable? If so, what requirements must be satisfied in order for it to succeed? PURPOSE: The research, conducted in 2007-2008, explored HRB-related interests, concerns, benefits, payment preferences, design requirements, value propositions, and challenges for 12 healthcare stakeholder groups and the consumers they serve in a U.S. metropolitan area of 1.3 million people. METHODS: A mixed-methods design was developed in a community action research context. Data were gathered and analyzed through 23 focus groups, 13 web surveys, a consumer phone survey (nonstratified random sample) and follow-up meetings. Recruiting goals for leaders representing targeted groups were achieved using a multi-channel communications strategy. Key themes were identified through data triangulation. Then, requirements, value propositions and challenges were developed through iterative processes of interaction with community members. RESULTS: Results include key themes, design requirements, value propositions, and challenges for 12 stakeholder groups and consumers. CONCLUSIONS: The research provides a framework for developing a consumer permission-driven, financially sustainable, community HRB model. However, for such a model to flourish, it will need to be part of a nationwide network of HIEs with compatible HRB approaches able to overcome a number of challenges.


Assuntos
Informação de Saúde ao Consumidor/organização & administração , Registros Eletrônicos de Saúde/organização & administração , Informática Médica/organização & administração , Pesquisa Participativa Baseada na Comunidade/métodos , Coleta de Dados , Grupos Focais , Humanos , Internet , Modelos Organizacionais , Estados Unidos
11.
Am J Reprod Immunol ; 58(4): 374-82, 2007 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17845208

RESUMO

PROBLEM: The purpose of the present prospective multi-center study is to investigate the relationship between laparoscopic diagnosis of endometriosis and results of a serum antiendometrial antibody (AEA) assay. METHOD OF STUDY: Indirect immunofluorescence detection of AEA was performed on serum specimens from patients presenting with dysmenorrhea or chronic pelvic pain and infertility (n = 2609) utilizing frozen sections of endometrium acquired on cycle days 18-21 from normally cycling women without endometriosis. Diagnostic laparoscopy was performed within 1 year of AEA assay on 527 tested women. RESULTS: The relationship between the serum AEA and laparoscopic verification was characterized by a positive predictive value = 88%, negative predictive value = 86%, sensitivity = 87% and specificity = 87%. CONCLUSION: The AEA assay is a very good screening test for patients suspected of having endometriosis and should be utilized prior to laparoscopy in diagnostic categories of dysmenorrhea or chronic pelvic pain and infertility.


Assuntos
Autoanticorpos/sangue , Endometriose/diagnóstico , Endométrio/imunologia , Técnica Indireta de Fluorescência para Anticorpo , Laparoscopia , Programas de Rastreamento/métodos , Dismenorreia/etiologia , Dismenorreia/imunologia , Endometriose/complicações , Endometriose/imunologia , Feminino , Humanos , Infertilidade/etiologia , Infertilidade/imunologia , Dor Pélvica/etiologia , Dor Pélvica/imunologia , Valor Preditivo dos Testes , Estudos Prospectivos , Sensibilidade e Especificidade , Estados Unidos
12.
Blood ; 107(8): 3084-90, 2006 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-16397136

RESUMO

Monozygotic twin sisters, with nonhematologic symptoms of Fanconi anemia (FA), were discovered to be somatic mosaics for mutations in the FANCA gene. Skin fibroblasts, but not lymphocytes or committed hematopoietic progenitors, were sensitive to DNA cross-linking agents. Molecular analysis revealed, in skin cells of both twins, a frameshift causing deletion in exon 27 (2555deltaT) and an exon 28 missense mutation (2670G>A/R880Q). The latter resulted in primarily cytoplasmic expression and reduced function of the mutant FANCA (R880Q) protein. Surprisingly, the same acquired exon 30 missense change (2927G>A/E966K) was detected in the hematopoietic cells of both sisters, but not in their fibroblasts, nor in either parent. This compensatory mutation existed in cis with the maternal exon 28 mutation, and it restored function and nuclear localization of the resulting protein. Both sisters have been free of hematologic symptoms for more than 2 decades, suggesting that this de novo mutation occurred prenatally in a single hematopoietic stem cell (HSC) in one twin and that descendants of this functionally corrected HSC, via intra-uterine circulation, repopulated the blood lineages of both sisters. This finding suggests that treating FA patients with gene therapy might require transduction of only a few hematopoietic stem cells.


Assuntos
Proteína do Grupo de Complementação A da Anemia de Fanconi/genética , Anemia de Fanconi/genética , Mutação da Fase de Leitura , Regulação da Expressão Gênica/genética , Células-Tronco Hematopoéticas/metabolismo , Mutação de Sentido Incorreto , Transporte Ativo do Núcleo Celular/genética , Núcleo Celular/genética , Núcleo Celular/metabolismo , Núcleo Celular/patologia , Reagentes de Ligações Cruzadas/farmacologia , Éxons/genética , Anemia de Fanconi/metabolismo , Anemia de Fanconi/patologia , Proteína do Grupo de Complementação A da Anemia de Fanconi/metabolismo , Feminino , Células-Tronco Hematopoéticas/patologia , Humanos , Troca Materno-Fetal , Mosaicismo , Gravidez , Pele/metabolismo , Pele/patologia
13.
Science ; 297(5581): 606-9, 2002 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-12065746

RESUMO

Fanconi anemia (FA) is a rare autosomal recessive cancer susceptibility disorder characterized by cellular hypersensitivity to mitomycin C (MMC). Six FA genes have been cloned, but the gene or genes corresponding to FA subtypes B and D1 remain unidentified. Here we show that cell lines derived from FA-B and FA-D1 patients have biallelic mutations in BRCA2 and express truncated BRCA2 proteins. Functional complementation of FA-D1 fibroblasts with wild-type BRCA2 complementary DNA restores MMC resistance. Our results link the six cloned FA genes with BRCA1 and BRCA2 in a common pathway. Germ-line mutation of genes in this pathway may result in cancer risks similar to those observed in families with BRCA1 or BRCA2 mutations.


Assuntos
Proteína BRCA2/metabolismo , Anemia de Fanconi/genética , Genes BRCA2 , Mutação , Alelos , Sequência de Aminoácidos , Proteína BRCA2/química , Proteína BRCA2/genética , Linhagem Celular , Dano ao DNA , Feminino , Fibroblastos , Mutação da Fase de Leitura , Inativação Gênica , Genes BRCA1 , Teste de Complementação Genética , Mutação em Linhagem Germinativa , Homozigoto , Humanos , Masculino , Mitomicina/farmacologia , Dados de Sequência Molecular , Linhagem , Fenótipo , Isoformas de Proteínas , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Transfecção
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