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1.
Dis Model Mech ; 8(11): 1467-78, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26398943

RESUMO

Knowledge of the expression profile of a gene is a critical piece of information required to build an understanding of the normal and essential functions of that gene and any role it may play in the development or progression of disease. High-throughput, large-scale efforts are on-going internationally to characterise reporter-tagged knockout mouse lines. As part of that effort, we report an open access adult mouse expression resource, in which the expression profile of 424 genes has been assessed in up to 47 different organs, tissues and sub-structures using a lacZ reporter gene. Many specific and informative expression patterns were noted. Expression was most commonly observed in the testis and brain and was most restricted in white adipose tissue and mammary gland. Over half of the assessed genes presented with an absent or localised expression pattern (categorised as 0-10 positive structures). A link between complexity of expression profile and viability of homozygous null animals was observed; inactivation of genes expressed in ≥ 21 structures was more likely to result in reduced viability by postnatal day 14 compared with more restricted expression profiles. For validation purposes, this mouse expression resource was compared with Bgee, a federated composite of RNA-based expression data sets. Strong agreement was observed, indicating a high degree of specificity in our data. Furthermore, there were 1207 observations of expression of a particular gene in an anatomical structure where Bgee had no data, indicating a large amount of novelty in our data set. Examples of expression data corroborating and extending genotype-phenotype associations and supporting disease gene candidacy are presented to demonstrate the potential of this powerful resource.


Assuntos
Perfilação da Expressão Gênica/métodos , Genes Reporter , Sequenciamento de Nucleotídeos em Larga Escala , Óperon Lac , Fatores Etários , Animais , Biologia Computacional , Bases de Dados Genéticas , Feminino , Regulação da Expressão Gênica no Desenvolvimento , Estudo de Associação Genômica Ampla , Homozigoto , Masculino , Camundongos Knockout , Mutação , Especificidade de Órgãos , Fenótipo
2.
Aust N Z J Obstet Gynaecol ; 53(5): 494-7, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23635010

RESUMO

This is a qualitative descriptive study evaluating the maternal response after the woman has learned her pregnancy has a poor prognosis via telemedicine rather than in a traditional, face-to-face, consultation method. In general, telemedicine was positively viewed by the participants; however, the experience may be markedly improved by implementing several simple changes in the overall consultative process.


Assuntos
Satisfação do Paciente , Telemedicina , Revelação da Verdade , Adulto , Comunicação , Emoções , Feminino , Humanos , Visita a Consultório Médico , Relações Médico-Paciente , Gravidez , Gravidez de Alto Risco , Prognóstico , Pesquisa Qualitativa
3.
Am J Prev Med ; 44(2): 154-7, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23332332

RESUMO

BACKGROUND: Little information is available on geographic disparity of human papillomavirus (HPV) vaccination among women aged 18-26 years in the U.S. Genital HPV is the most common sexually transmitted infection in the U.S. Persistent HPV infection with oncogenic types can cause cervical cancer. PURPOSE: This study utilized data collected from the 2010 National Health Interview Survey (NHIS). It identified geographic variability and other factors contributing to the disparities in HPV vaccine series initiation in a nationally representative sample of women aged 18-26 years. METHODS: The study utilized data collected from 1867 women who participated in the Cancer Control Module Supplement of the 2012 NHIS. A multivariable logistic regression model was used to assess characteristics associated with initiation of the HPV series. Analyses were performed in 2012. RESULTS: After adjusting for other characteristics, women living in the West and North Central/Midwest had 54% and 20% greater odds of initiating the HPV series, respectively, compared with those living in the Northeast. Other factors associated with HPV series initiation were younger age, Hispanic background, being single/never married, childlessness, a history of HPV, and current alcohol use. Factors correlated with failure to initiate the HPV series were: not having insurance, living below the 200% poverty level, not being a high school graduate, not currently using hormone-based birth control, most recent Pap >1 year ago, no regular provider, last clinic visit ≥12 months ago, and never having received the hepatitis B vaccine. CONCLUSIONS: Results demonstrate disparity in HPV vaccine uptake by region of residence in the U.S. among young women. Further research is needed to understand the factors contributing to this geographic disparity. Evaluation of vaccination policies and practices associated with higher coverage regions might help characterize effective methods to improve HPV vaccination among women aged 18-26 years.


Assuntos
Disparidades em Assistência à Saúde/estatística & dados numéricos , Infecções por Papillomavirus/prevenção & controle , Vacinas contra Papillomavirus/administração & dosagem , Adolescente , Adulto , Fatores Etários , Feminino , Inquéritos Epidemiológicos , Humanos , Modelos Logísticos , Análise Multivariada , Proteínas Associadas a Pancreatite , Fatores Socioeconômicos , Adulto Jovem
4.
Neonatal Netw ; 31(4): 223-8, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22763249

RESUMO

Over the past ten years, web-cameras often have been used in the NICU to support parents and connect families with their hospitalized neonate. This article describes the history of images and video use in the NICU to aid in linking parents and then focuses on the challenges and lessons learned through redesign, installation, and management of a new web-camera system. Technology can support NICU families, and when implemented with input from nurses and families, the process can be a positive experience.


Assuntos
Unidades de Terapia Intensiva Neonatal , Internet , Telemedicina/métodos , Gravação em Vídeo , Atitude do Pessoal de Saúde , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Unidades de Terapia Intensiva Neonatal/organização & administração , Enfermagem Neonatal , Relações Pais-Filho , Satisfação do Paciente , Assistência Centrada no Paciente , Cuidado Pós-Natal , Relações Profissional-Família , Avaliação de Programas e Projetos de Saúde , Telemedicina/instrumentação , Telemedicina/organização & administração
5.
Genome Res ; 20(8): 1064-83, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20566737

RESUMO

Coordination of cellular processes through the establishment of tissue-specific gene expression programs is essential for lineage maturation. The basic helix-loop-helix hemopoietic transcriptional regulator TAL1 (formerly SCL) is required for terminal differentiation of red blood cells. To gain insight into TAL1 function and mechanisms of action in erythropoiesis, we performed ChIP-sequencing and gene expression analyses from primary fetal liver erythroid cells. We show that TAL1 coordinates expression of genes in most known red cell-specific processes. The majority of TAL1's genomic targets require direct DNA-binding activity. However, one-fifth of TAL1's target sequences, mainly among those showing high affinity for TAL1, can recruit the factor independently of its DNA binding activity. An unbiased DNA motif search of sequences bound by TAL1 identified CAGNTG as TAL1-preferred E-box motif in erythroid cells. Novel motifs were also characterized that may help distinguish activated from repressed genes and suggest a new mechanism by which TAL1 may be recruited to DNA. Finally, analysis of recruitment of GATA1, a protein partner of TAL1, to sequences occupied by TAL1 suggests that TAL1's binding is necessary prior or simultaneous to that of GATA1. This work provides the framework to study regulatory networks leading to erythroid terminal maturation and to model mechanisms of action of tissue-specific transcription factors.


Assuntos
Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Fatores de Transcrição Hélice-Alça-Hélice Básicos/metabolismo , Células Eritroides/metabolismo , Eritropoese/genética , Regulação da Expressão Gênica , Genoma , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas/metabolismo , Animais , Sequência de Bases , Elementos E-Box/genética , Expressão Gênica , Técnicas de Introdução de Genes , Estudo de Associação Genômica Ampla , Camundongos , Dados de Sequência Molecular , Proteína 1 de Leucemia Linfocítica Aguda de Células T
6.
J Spec Pediatr Nurs ; 14(1): 49-58, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19161575

RESUMO

PURPOSE: The purpose of this focused ethnographic study was to explore the quality of life (QOL) of school-age heart-transplant recipients. DESIGN AND METHODS: Semistructured interviews were conducted with 11 parent-child dyads. Data were analyzed using content analysis and constant comparison. RESULTS: Participants identified key factors impacting the children's QOL including: participation in normal activities, normalcy, staying healthy, sources of strength and support, and struggles (parents' perspectives) and doing what kids do, being with family and friends, and being a heart transplant kid (children's perspectives). PRACTICE IMPLICATIONS: Interventions focusing on the key factors identified by participants may impact the QOL of school-age heart-transplant recipients.


Assuntos
Transplante de Coração , Qualidade de Vida , Adulto , Antropologia Cultural , Atitude , Composição de Bases , Criança , Comportamento Infantil , Nível de Saúde , Humanos , Entrevistas como Assunto , Pessoa de Meia-Idade , Pais , Período Pós-Operatório , Apoio Social
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