Thesis (M.D.)--University of Hong Kong, 1992. / Includes bibliographical references (leaf 189-216).

Thesis (M.S.)--University of Michigan, 1987.

Thesis (M.S.)--University of Michigan, 1992.

Thesis (M.S.)--University of Wisconsin--Madison, 1981. / Typescript. Includes bibliographical references (leaves 78-82).

Congenital heart defects are the most frequent congenital malformation being present in eight of every 1000 live births and showing the surgical produces in eighty percent of the cases. The aim of this study was to analyze the factors related to the deficit in the surgical correction of congenital heart disease in Sergipe in the last ten years. Data were collected from records of extracorporeal circulation common to all hospitals in Sergipe from January 1, 2000 to December 31, 2009, composed by the following variables: age, gender, origin, prognosis, postoperative diagnosis, type of surgery, hospital where the procedure was performed, type of medical care, surgical risk category RACHS -1. Data of births and deaths caused by heart disease in the years of study. The study was divided into two periods according to the centralization of resources in a single hospital from 2007. Performed 932 surgeries in ten years. There was reduction in surgery deficit from 69% in the pre-agreement to 55.3% in the post-agreement, 62.8% of the surgery happened between 1-12 years aged. Females had 55% of cases. The SUS system was the most common health care and the VSD was most frequent diagnosis (20.5%), followed by the Patent ductus arteriosus (20,2%) and the Interatrial Communication (19%). The predictors of hospital mortality were age, category RACHS -1 and Hospital where the procedure was performed. Our results indicate that the centralization of human and materials resources is important for the congenital heart surgery, is needed to expand these centers increase their productivity and, thereby, the quality of service. There was difference between the periods in the hospital mortality, pre-agreement 9,8% e post-agreement 5,4%. / As cardiopatias congênitas são a malformação congênita mais freqüente, estando presente em oito de cada 1000 nascidos vivos e apresentando necessidade cirúrgica em 80% dos casos. O objetivo deste estudo foi analisar o tratamento cirúrgico das cardiopatias congênitas de Sergipe em dez anos. Foram coletados dados dos registros de circulação extra-corpórea comum a todos os Hospitais de Sergipe, no período de 1º de janeiro de 2000 a 31 de dezembro de 2009, com as seguintes variáveis: faixa etária, gênero, procedência, destino, diagnóstico pós-operatório, tipo de cirurgia, hospital onde foi realizado o procedimento, tipo de assistência médica, categoria de risco cirúrgico RACHS -1. Foram registrados os dados das declarações de nascidos vivos e óbitos por cardiopatia congênita nos anos do estudo. O estudo foi dividido em dois períodos em função da centralização dos recursos em um único hospital a partir de 2007. Foram realizadas 932 cirurgias nos dez anos. Houve redução do déficit de cirurgias de 69% no período pré-contrato para 55,3% no pós-contrato; quanto à faixa etária, 62,8% dos pacientes tinham entre 1 a 12 anos. Em relação ao gênero, o sexo feminino foi o mais freqüente com 55% dos casos. A assistência médica mais frequente foi o Sistema Único de Saúde e os diagnósticos mais freqüentes foram CIV (20,5%), PCA (20,2%) e CIA (19%). Os fatores preditores de mortalidade hospitalar foram faixa etária, categoria RACHS -1 e Hospital onde foi realizado o procedimento. Os resultados deste estudo indicam que a centralização dos recursos humanos e materiais é importante para cirurgia cardíaca das cardiopatias congênitas. Houve redução na mortalidade hospitalar, no pré-contrato de 9,8% para 5,4% no pós- contrato.

Este trabalho teve como objetivo compreender os efeitos psicológicos da cardiopatia congênita do irmão em crianças saudáveis. A análise da literatura revelou que pouca atenção tem sido dada a esse tema, ainda que se saiba que os irmãos sadios sofrem sentindo-se excluídos e isolados das relações familiares, bem como do tratamento de crianças com doenças crônicas. Foram avaliadas cinco crianças, com idades entre três e onze anos, cujos irmãos, no momento da coleta de dados, estavam internados para tratamento da cardiopatia congênita. A pesquisa foi realizada através de análise qualitativa com referencial psicanalítico de dados colhidos durante entrevista semidirigida com os pais e observação de hora lúdica com as crianças. Foram encontrados temas comuns na vivência desses irmãos saudáveis como alteração na rotina familiar, com acréscimo de responsabilidades e conhecimento e interesse a respeito da doença e tratamento do irmão. Os irmãos saudáveis manifestaram sentimentos preponderantemente de empatia e solidariedade para com a dor e desconforto da criança cardiopata, apresentando comportamentos de cuidado para com o irmão e a família e, de forma encoberta, ciúme e rivalidade. A hora lúdica teve um caráter, além de diagnóstico, interventivo para essas crianças. Atualmente a literatura aponta para a necessidade de intervenções com essa população. A partir dos resultados desta pesquisa, espera-se ter contribuído na produção de conhecimento sobre esses irmãos saudáveis e na criação de propostas para intervenções com o intuito de prevenir ou minimizar possíveis efeitos adversos do convívio com um irmão cardiopata / This study aimed to understand the psychological effects of congenital heart of siblings in healthy children. The literature review revealed that little attention has been paid to this issue, although it is known that the healthy siblings suffer from feeling excluded and isolated from family relationships and the treatment of children with chronic diseases. We evaluated five children, aged between three and eleven, whose siblings, at the time of data collection, were hospitalized for treatment of congenital heart disease. The research was conducted through qualitative analysis with psychoanalysis reference of semistructured interview with parents and observation play therapy hour with children. We found common themes in the experience of healthy siblings as change in family routine, with increased responsibilities and interest in and knowledge about the disease and treatment of their siblings. The healthy siblings predominantly expressed feelings of empathy and solidarity with the pain and discomfort of the child with heart disease, presenting behaviors of care for their siblings and family and, covertly, jealousy and rivalry. The play therapy hour had a interventional character for these children. Currently, the literature points to the need for interventions with this population. From the results of this research is expected to have contributed in knowledge about this healthy siblings and to create proposals for interventions in order to prevent or minimize possible adverse effects of living with a sibling with heart disease

Submitted by Fabiana Gonçalves Pinto (benf@ndc.uff.br) on 2016-02-02T16:49:45Z No. of bitstreams: 1 Valéria Gonçalves da Silva.pdf: 2039708 bytes, checksum: 5cda692c10b3f2e30620a7d312003de6 (MD5) / Made available in DSpace on 2016-02-02T16:49:45Z (GMT). No. of bitstreams: 1 Valéria Gonçalves da Silva.pdf: 2039708 bytes, checksum: 5cda692c10b3f2e30620a7d312003de6 (MD5) Previous issue date: 2012 / Conselho Regional de Enfermagem - Rio de Janeiro - COREN-RJ / Mestrado Profissional em Enfermagem Assistencial / Introdução: O conhecimento dos principais diagnósticos de enfermagem de crianças com cardiopatia congênita hospitalizadas contribui para prever os cuidados de enfermagem a essa clientela. Objetivos: Caracterizar as crianças com cardiopatias congênitas com relação a sexo, idade, comorbidades, tempo de internação e termos registrados nos prontuários pela equipe de enfermagem; identificar os diagnósticos de enfermagem Nanda I, a partir dos termos encontrados nos registros de enfermagem de crianças com cardiopatias congênitas; verificar o grau de concordância da avaliação dos peritos em relação aos diagnósticos de enfermagem identificados; selecionar os resultados e intervenções de enfermagem para estes diagnósticos e analisar os dados encontrados sob a ótica da construção de um protocolo de cuidados de enfermagem com linguagem padronizada. Método: Trata-se de um estudo observacional, transversal com utilização da ferramenta metodológica mapeamento cruzado para identificação da classificação dos diagnósticos de enfermagem. Para a coleta de dados, foi utilizado um formulário preenchido a partir dos registros de enfermagem de 82 prontuários de crianças com cardiopatia congênita hospitalizadas. Os termos foram extraídos na íntegra, comparados com a classificação de diagnósticos de enfermagem pela pesquisadora e posteriormente avaliado por peritos. Os dados dos formulários foram digitados em computador residencial e armazenados em forma de banco de dados utilizando os programas Microsoft Excel 2007. A análise descritiva trouxe distribuições de frequências, cálculo das estatísticas mínimo, máximo, média, desvio padrão e percentis. Resultados: Os diagnósticos de enfermagem que compuseram o protocolo, após a análise de concordância entre peritos em ordem de maior frequência foram: risco de infecção (81,7%); troca de gases prejudicada (46,3%); intolerância à atividade (36,6%); padrão respiratório ineficaz (26,8%); risco de intolerância à atividade (20,7%); débito cardíaco diminuído (19,5%); risco de queda (18,3%); perfusão tissular periférica ineficaz (18,3%); atraso no crescimento e desenvolvimento (17,1%); comportamento desorganizado do lactente (17,1%) e risco de tensão do papel do cuidador (13,4%). Conclusão: Conclui-se, que através do método de mapeamento cruzado de uma linguagem não padronizada com uma linguagem padronizada foi possível identificar os diagnósticos de enfermagem de crianças com cardiopatias congênitas mais prevalentes. E a implementação desse instrumento viabilizará a padronização dos cuidados de enfermagem em uma classificação internacionalmente conhecida, otimização e melhora da qualidade da assistência / Background: The knowledge of the main nursing diagnoses of hospitalized children with congenital cardiopathy contributes to forecast the nursing care to this clientele. Objectives: To characterize the children with congenital cardiopathy in relation to gender, age, co morbidities, time of hospitalization and terms registered in the patients records by the nursing team; identify the Nanda I nursing diagnosis from the terms found in the nursing registers of children with congenital cardiopathies; to verify the degree of agreement of the experts evaluation in relation to nursing diagnosis identified; to select the results and nursing interventions for these diagnoses and to analyze data found under the view of the construction of a protocol of nursing care with standardized language. Method: This is an observational, transversal study using a methodological tool cross-mapping for identifying the nursing diagnosis classification. To the data collect, it was used a formulary filled from the nursing records of 82 medical records of hospitalized children with congenital heart disease. The terms were extracted in full, compared with the classification of nursing diagnoses by the researcher and further evaluated by experts. The data were entered into the forms home computer and stored in the form of database programs using Microsoft Excel 2007. The descriptive analysis brought distributions of frequencies, calculation of minimum, maximum, average, standard deviation and percentiles statistics. Results: The nursing diagnoses that comprised the protocol, after the analysis of agreement among experts in order of more frequency were: risk of infection (81.7%); impaired gas exchange (46.3%); activity intolerance (36.6%); ineffective breathing pattern (26.8%); risk of activity intolerance (20.7%); decreased cardiac output (19.5%); risk of falls (18.3%); ineffective peripheral tissue perfusion (18.3%); growth developmental delay (17.1%); disorganized infant behavior (17.1%) and risk of the caregiver tension paper (13.4%). Conclusion: It concludes that through the cross-mapping method of a non- standardized language with a standardized language it was identified the nursing diagnoses of children with most prevalent congenital cardiopathies. And the implementation of this tool will allow the standardization of the nursing care in an internationally known, optimization and improvement of quality of assistance

The aim was to explore experiences and needs of information following a prenatal diagnosis of congenital heart defect, and to assess the quality of publicly available information websites about congenital heart defects. Study I was a qualitative interview study that explored experiences among 11 parents to prenatally diagnosed children. Respondents tried to grasp the facts today while reflecting on the future, and personal contact with medical specialists was valued. The analysis showed that the Web contained an overwhelming amount of information. Study II was a qualitative interview study that explored experiences among 26 females and males 5-15 weeks after a prenatal diagnosis. Respondents hunted for information in a confusing reality, with a need for information about various topics and methods for information delivery. Although high satisfaction with the specialist information was described, the information was considered overwhelming and complex. Supplemental information was sought via the Web. Insufficient information about induced abortions was described. Study III was a quantitative study that explored content and quality of 67 English websites about congenital heart defects. Few websites included information about prenatal aspects, such as pregnancy termination. The overall quality was poor, especially reliability and information about treatment choices. Study IV was a mixed methods study that explored the quality of 10 Swedish websites about congenital heart defects, from the perspectives of 9 assessors with personal experience of a prenatal diagnosis. Quantitative Likert scale assessments were followed by written open-ended questions and focus group discussions. Quantitative assessments represented unfulfilled quality criterion for treatment choices, and partially fulfilled quality criteria for appearance, details, relevance, suitability and overall quality. Websites had significantly different scores for all investigated quality criteria. Various issues were highlighted in the responses to the open-ended questions and during the discussions, including inappropriate advertisements, biased information, poor illustrations, complex language and poor trustworthiness. In conclusion, expectant parents faced with a prenatal diagnosis of congenital heart defect in the fetus try to grasp the unexpected, an attempt that involves difficulties in relation to information. These are present during the consultation with health professionals and when searching for web-based information.

Adequacy of nutritional intake during the postoperative period, as measured by a change in weight-for-age z-scores from surgery to the time of discharge, was evaluated in infants (n = 58) diagnosed with a congenital heart defect and admitted for surgical intervention at Miami Children’s Hospital using a prospective observational study design. Parental consent was obtained for all infants who participated in the study. Forty patients had a weight available at hospital discharge. The mean preoperative weight-for-age z-score was -1.3 ±1.43 and the mean weight-for-age z-score at hospital discharge was -1.89 ±1.35 with a mean difference of 0.58 ±0.5 (P Nutritional intake during the postoperative period was inadequate based on a decrease in weight-for-age z-scores from the time of surgery until discharged home. Our findings suggested that limited fluid volume for nutrition likely contributes to suboptimal nutritional delivery during the postoperative period; however, inadequate nutrition prescription may also be an important contributing factor. Development of a nutrition protocol for initiation and advancement of nutrition support may reduce the delay in achieving patient’s nutritional goals and may attenuate the observed decrease in z-scores during the postoperative period.

Nkx2.5 is a cardiac transcription factor that plays a critical role in heart development. In humans, heterozygous mutations in the NKX2.5 gene result in congenital heart defects (CHDs), but the molecular mechanisms by which these mutations cause the defects are still unknown. NKX2.5 R142C is a mutation that is found to be associated with atrial septal defect and atrioventricular block in 13 patients from one family. The R142C mutation is located within both the DNA-binding domain and the nuclear localization sequence of NKX2.5 protein. The pathogenesis of CHDs in humans with R142C point mutation is not well understood. Also, a previous study in our laboratory has identified Mypt1/PP1 as a novel interacting partner of Nkx2.5 in stem cells during cardiomyogenesis. Nkx2.5 has a PP1-binding consensus sequence RVxF located in the N-terminus of the homeodomain. Notably, the PP1-binding sequence, RVxF, is mutated from arginine to cysteine in patients with the R142C heterozygous mutation. However, the ability of the R142C mutation to bind to the Mypt1/PP1 complex has not been investigated yet. The following thesis addresses the functional deficit associated with R142C by utilizing a combination of in vitro, and in vivo models. It also addresses the interaction of Mypt1/PP1 with the R142C mutation. We have generated a heterozygous mouse embryonic stem cell (mESC) line, harboring the murine homologue (R141C) of the human mutation R142C in Nkx2.5 gene. We show reduced cardiomyogenesis and impaired subcellular localization of Nkx2.5 protein in Nkx2.5R141C/+ mESCs. Gene expression profiling of Nkx2.5R141C/+ mESCs revealed a global misregulation of genes important for heart development and identified putative direct target genes of Nkx2.5 that are affected by the R141C heterozygous mutation. We also generated a mouse model harboring the human mutation R142C. We show that the Nkx2.5R141C/R141C homozygous embryos are developmentally arrested around E10.5 with delayed heart morphogenesis. Moreover, Nkx2.5R141C/+ newborn mice are grossly normal but show variable cardiac defects and downregulation of ion channel genes that later cause AV block in adult mice. Finally, we show that the R141C mutant binds to the Mypt1/PP1 complex but is not inhibited or translocated to the perinuclear region in the presence of Mypt1/PP1 as the WT Nkx2.5 is.