No cuidado cotidiano a crianças portadoras de cardiopatias congênitas percebe-se que os pais têm dificuldade para lidar, no domicílio, com as situações decorrentes da própria situação clínica, tais como cianose, prevenção da endocardite infecciosa, administração dos fármacos, etc. Com a finalidade de conhecer melhor os determinantes e possíveis soluções para tais situações, buscou-se identificar trabalhos científicos que abordassem as necessidades de informação e suporte a pais de criança cardiopatas, de 0 a 12 anos de idade, quanto à sete pontos: cardiopatia congênita propriamente dita; como lidar com a cianose; promoção de atividade física; promoção da alimentação; promoção da saúde bucal; prevenção da endocardite infecciosa e administração de fármacos. A busca foi realizada nas bases de dados MEDLINE, Cochrane, CINAHL, LILACS e Scielo, tendo-se limitado o período entre janeiro de 1997 e abril de 2007. Foram identificados 17 estudos, nos quais foi utilizada a análise temática de conteúdo como referencial metodológico. As categorias de análise foram os sete pontos previamente determinados. Os resultados mostraram que há categorias pouco exploradas, como, cuidados por ocasião de crise de cianose, promoção de atividade física e administração de fármacos. As outras concentram a maior parte dos estudos. São elas: conhecimento dos pais sobre a cardiopatia, promoção de alimentação (compreendendo aleitamento natural), promoção da saúde bucal e prevenção da endocardite infecciosa. Na análise geral percebe-se que o conhecimento dos pais, como um todo, é incompleto e fragmentado, tanto em países desenvolvidos, quanto nos em desenvolvimento. São descritos cuidados prestados por enfermeiros, dentistas e médicos, entre outros. Programas de capacitação de pais são poucos e apenas um é descrito como tendo êxito. Tais resultados apontam para a necessidade de mudanças, tanto em termos da relação direta com os pais, quanto em termos de re-organização dos serviços com vistas a abarcar de modo mais completo a necessidade de informação e suporte a estes / In the daily care regarding to children bearing congenital heart disease one can realize that parents have difficulties to deal, at home, with situations coming from the clinical situation itself, such as cyanosis, prevention of the infective endocarditis, administration of medicines, etc. In order to know better the main causes and possible solutions to such situations, one has sought to identify scientifical studies which approach the necessities of information and support to the parents of congenital heart disease from 0 up to 12 years old concerning seven points: congenital heart disease in the very sense of the problem; how to deal with cyanosis; promotion of physical activity; promotion of feeding; promotion of mouth and teeth hygiene; prevention of infective endocarditis and administration of medicines. The search was done in the bases of data MEDLINE, Cochrane, CINAHL, LILACS and Scielo, in the period between 1997 January to 2007 April. Seventeen studies were identified and the tematic analyses of content was used as methodological reference. The categories to analyse were the 7 points previously determinate. The results showed that there are categories with few reaserches carried out, as, for example, the care in situations of cyanosis crisis, promotion of physical activity and administration of medicines. The other ones concentrate the most of the studies. They are: parents\' knowledge about heart disease, promotion of feeding (including breast-feeding), promotion of mouth and teeth hygiene and prevention of infective endocarditis. The general analyses demonstrates that the parents\' knowledge, as a whole, is incomplete and fragmented both in developed world\'s countries and in the developing world ones. Cares rendered by nursery, odontological and medical staff are described along other sort of cares. Programs to capacitate parents are few and only one is describeb as succesful. Such results point to the need of changing.concerning the straight relation with parents and concerning the re-organization of the service as well, in order to embrace in a more complete way the necessity of information and support to parents

Introduction. Computational modelling has been used widely in biological and clinical applications, but relatively less in surgical design and optimization. Magnetic resonance image (MRI)-based right ventricle (RV) models were introduced for patients with repaired Tetralogy of Fallot (rTOF) to assess ventricle cardiac function, and to identify morphological and mechanical parameters which can be used to predict and optimize post-surgery cardiac outcome. Tetralogy of Fallot is a common congenital heart defect which includes a ventricular septal defect and severe right ventricular outflow obstruction, account for the majority of cases with late onset RV failure. The current surgical approach for the patients with repaired ToF including pulmonary valve replacement/insertion (PVR) has yielded mixed results. It is of great interest to identify parameters which may be used to predict surgical cardiac function outcome after PVR. Data, Model, and Methods. Cardiac Magnetic Resonance (CMR) data from 20 healthy volunteers (11 males, mean year : 22.8) and 56 TOF patients (37 males, mean year : 25.3) were provided by Children's Hospital - Boston, Harvard Medical School from our NIH-funded project (R01 HL089269). RV wall thickness (WT), circumferential and longitudinal curvature (C-cur and L-cur), surface area (SA) and surface to volume ratio (SVR) were obtained based on CMR data for morphological analysis. 6 healthy volunteers and 16 TOF patients were chosen to construct 3D computational models for mechanical analysis. The 3D CMR-based RV/LV/Patch combination models included a) isotropic and anisotropic material properties, b) myocardial fiber orientation, c) active contraction with two zero-load geometries, and d) fluid-structure interactions. The models were used to obtain the assessment for RV mechanical conditions, which might be helpful for PVR surgical outcome prediction. All the computational models were built and solved in a commercial finite element software ADINA. Statistical methods including Linear Mixed- effort Method and Logistical regression were used in the morphological and mechanical analysis to find out potential indicators for predicting PVR outcome from the morphological and mechanical parameters. Results. In morphological analysis, statistically significant differences were found in RV SA and SVR between better-outcome patient group (BPG) and worse-outcome patient group (WPG). At begin of ejection, mean RV SA of BPG was 13.6% lower than that from WPG (241.1 cm2 v.s. 279.0 cm2, p =0.0161). Mean RV SVR of BPG was 13.1% lower than that from WPG (1.26 cm2/ml v.s. 1.45 cm2/ml, p =0.0271). Similar results were also found in RV SA and SVR at begin of filling. Furthermore, RV EF change from pre- to post-PVR were found negatively correlated with RV SA and SVR. In mechanical analysis, 22 structure-only models with one zero-load geometry (1G) were constructed to obtain stress/strain distributions. Stress-P1 from BPG was found to be closer to that from HG, compared to Stress- P1 of WPG. At the beginning of ejection, mean Stress-P1 of BPG was only 6.8% higher than that from healthy group (p =0.6889), while average Stress-P1 of WPG was 84.1% higher than that of healthy group (p =0.0418). Similar results were also found at begin of filling. The results suggested that comparing patients' RV stress values with healthy RV stress values may help identify patients with possible better outcome. The models with two zero-load geometries (2G models) and FSI models were also constructed. Their numerical results indicated that 2G models can provide end-ejection and end-filling results which were not available in 1G models, and FSI models can provide flow velocity, pressure and shear stress information which lacked in structure-only models (1G and 2G models). Conclusion. In vivo image-based 3D patient- specific computational models could lead to considerable potential gain not only in surgical design and outcome prediction, but also in understanding the mechanisms of RV failure for patients with repaired TOF.

A dor ocasiona uma série de alterações sistêmicas que afetam o desenvolvimento do recém-nascido (RN), em particular, os submetidos à cirurgia cardíaca, além de acarretar alterações hemodinâmicas que podem comprometer sua sobrevivência. O objetivo do estudo foi caracterizar a população de neonatos submetidos a cirurgias cardíacas e descrever as práticas de controle da dor implementadas no primeiro pós-operatório. Estudo descritivo, transversal realizado na Sociedade Hospital Samaritano de São Paulo. Os dados foram obtidos de prontuários médicos de RN submetidos à cirurgia cardíaca, internados entre julho de 2001 e dezembro de 2005. Os registros sobre a avaliação da dor e intervenção medicamentosa para o alívio da dor no primeiro pós-operatório foram analisados. Dentre quarenta e dois RN submetidos a cirurgias cardíacas no período estudado, 30 atenderam aos critérios de inclusão e constituíram a casuística do estudo. A maioria dos RN nasceu a termo, pesava 2.500g ou mais na data do procedimento cirúrgico e foi submetida à cirurgia na primeira semana de vida. Foram identificados 24 diferentes diagnósticos de cardiopatias congênitas e 14 tipos de intervenções cirúrgicas, corretivas ou paliativas, no grupo estudado. Dentre 30 prontuários, foram identificados registros de avaliação de dor em 24 (80,0%). A avaliação por meio da escala NIPS foi anotada em 17 (56,7%) prontuários e em 15 (50,0%) verificou-se registro de comportamentos e alterações nos parâmetros fisiológicos indicativos de dor. Dos RN avaliados, 17 (56,7%) apresentaram registro de ocorrência de dor no primeiro pós-operatório. A maioria, 29 (96,7%), recebeu analgesia farmacológica: 24 (80,0%) RN receberam citrato de fentanil contínuo, 5 (16,7%) RN, dipirona intermitente, 5 (16,7%) RN, citrato de fentanil contínuo e dipirona intermitente, 1 (3,3%) RN recebeu citrato de fentanil contínuo e morfina intermitente. As doses administradas variaram amplamente. Foram também utilizados sedativos associados aos analgésicos: 12 (40,0%) RN receberam midazolan contínuo, 5 (16,7%) RN, midazolan intermitente, 1 (3,3%), besilato de cisatracúrio contínuo, 1 (3,3%) cloridrato de clorpromazina contínuo e 1 (3,3%) propofol intermitente Os resultados evidenciam não haver uniformidade e padronização na avaliação da dor pós-operatória e nos tipos e doses de fármacos utilizados para o controle da dor pós-operatória dos RN submetidos a cirurgias cardíacas no serviço estudado. / Pain causes several systemic alterations that affect the newborn’s development, specially the ones who underwent cardiac surgery. Besides, hemodynamic alterations related to pain can put their lives into risk. The aim of the study was to characterize pain control practices in newborns who underwent cardiac surgery. This is a cross-sectional and descriptive study performed in Sociedade Hospital Samaritano of São Paulo. The data were collected from the medical reports of the newborns who underwent cardiac surgery from July 2001 to December 2005. The records related to pain assessment and pharmacological treatment in the first post-operative day were analyzed. From 42 newborns who underwent cardiac surgery during the period studied, 30 of them were in accordance with the criteria of inclusion. Most of the neonates were term and their weights were 2.500 grams or more on the date of the surgery that was mostly performed in the first week of life. In the studied group, it was identified 24 different diagnoses of congenital heart deffects and 14 types of corrective or palliative surgical interventions. From the 30 medical reports, records of pain assessment were found in 24 of them (80.0%). The evaluations taken by using the NIPS were written in 17 medical reports (56.7%) and in 15 of them (50.0%) it was verified records of behavior and physiological parameters alterations that indicate pain. From the newborns evaluated, 17 (56.7%) presented records of pain in the first day post-surgery. 29 neonates (96.7%) received analgesics, as it follows: continuous fentanyl citrate, 24 newborns (80.0%); intermittent dipyrone, 5 (16.7%); continuous fentanyl citrate and intermittent dipyrone, 5 (16.7%) and fentanyl citrate and intermittent morphine, 1 (3.3%). The doses given to the neonates were very different. 12 (40.0%) newborns received the sedative midazolam by continuous infusion with analgesics. 5 (16.7%) neonates received intermittent midazolam, 1 (3.3%) received continuous cisatracurium besylate, 1 (3.3%) received continuous chlorpromazine hydrochloride and 1 (3.3%) received intermittent propofol. The results showed that there is no pattern and uniformity of pain assessment after surgery, neither of the types and doses of drugs used for pain control of the newborns who underwent cardiac surgery in the service that was studied.

Submitted by Suzana Dias (suzana.dias@famerp.br) on 2018-10-18T21:36:00Z No. of bitstreams: 1 AlexandreMurakami_dissert.pdf: 1293818 bytes, checksum: d98c26e3e45ebf6e17599765f2d44e2d (MD5) / Made available in DSpace on 2018-10-18T21:36:00Z (GMT). No. of bitstreams: 1 AlexandreMurakami_dissert.pdf: 1293818 bytes, checksum: d98c26e3e45ebf6e17599765f2d44e2d (MD5) Previous issue date: 2018-07-27 / Developing countries have been dealing with several difficulties concerning congenital heart diseases. Among them is lack of control of results through some specific database. The participation in the International Quality Improvement Collaborative Database for Congenital Heart Disease (IQIC) - Improving care in low- and middle-income countries provides an opportunity to improve quality of care targeting morbidity and mortality reduction, facilitated by the establishment of parameters and objective data to evaluate treatment offered. Objective: To analyze factors in the International Quality Improvement Collaborative Database for Congenital Heart Disease (IQIC) database of a single center of cardiology and pediatric cardiovascular surgery that influenced the quality of care to patients with congenital heart disease. Casuistic and Methods: Data collection from January 2011 to December 2017 independently and with external audit by IQIC database partnership. Data included preoperative information such as demographic data, nutritional status, associated chromosomal abnormalities, Risk Adjustment for Congenital Heart Surgery (RACHS-1) score, as well as postoperative information such as infections, complications in the first 30 days or until hospital discharge and / or patient death. Results: In the preoperative period, there was a clear trend of increasing newborn patient cases, in detriment of those 1 to 18 years of age. There was a reduction in cases of malnutrition from 70% in 2013 to 55% in 2017. The postoperative period reveled significant variation between groups’ surgical procedures in RACHS-1 risk category (P= 0.003), prevalence of risk categories 2 and 3, as well as an increase in cases of risk categories 4,5 and 6, mainly in the last two years. Infection and mortality showed favorable results for reduction, with statistical significance for surgical site infection (P= 0.03), bacterial sepsis and other infections (both P <0.001). The 30-day postoperative follow-up showed a satisfactory evolution for discrete reduction in mortality, but not statistically significant difference in both in-hospital death (P=0.16) and 30 days (P=0.14). Conclusion: The analysis of the seven years of the IQIC database showed significant decrease in infection, increase in complexity of cases and reduction of mortality of patients with congenital heart disease in our environment. / Países em desenvolvimento enfrentam diversas dificuldades em relação às cardiopatias congênitas, dentre elas a falta de controle de resultados por meio de banco de dados específico. A participação no banco de dados International Quality Improvement Collaborative for Congenital Heart Disease (IQIC) - Improving care in low- and middle-income countries forneceu oportunidade de melhoria da qualidade na assistência para a redução de morbidade e mortalidade infantil, facilitada pelo estabelecimento de parâmetros e dados objetivos para avaliação de tratamentos oferecidos. Objetivo: Analisar os fatores do banco de dados International Quality Improvement Collaborative for Congenital Heart Disease (IQIC) – Improving care in low and middle income countries de um centro único de cardiologia e cirurgia cardiovascular pediátrica que influenciaram a qualidade de atendimento aos pacientes com cardiopatias congênitas. Casuística e Método: Coleta de dados no período de Janeiro de 2011 a Dezembro de 2017 de forma independente e com auditoria externa em parceria com banco de dados IQIC. Os dados incluíram informações pré-operatórias, tais como: dados demográficos, estado nutricional, síndromes associadas e categoria de risco cirúrgico (Risk Adjustment for Congenital Heart Surgery - RACHS-1), assim como, informações pós-operatórias como infecções, complicações nos primeiros 30 dias até a alta hospitalar e ou óbito do paciente. Resultados: No período pré-operatório, observou-se nítida tendência de aumento de casos de pacientes recém-nascidos em detrimento aos de 1 a 18 anos. Encontrou-se redução de casos com desnutrição de 70% em 2013 para 55% em 2017. No período pós-operatório os procedimentos cirúrgicos classificados na categoria de risco RACHS-1 revelaram variação significante entre os grupos (P=0,003), prevalecendo as categorias de grau 2 e 3, assim como, aumento de casos de categorias de risco 4,5 e 6, principalmente nos dois últimos anos do estudo. A infecção e mortalidade demonstraram resultados favoráveis para a redução, com significância estatística para infecção de sítio cirúrgico (P=0,03), sepse bacteriana e outras infecções (P<0,001). O acompanhamento de 30 dias de pós-operatório mostrou evolução satisfatória para discreta redução dos óbitos, porém sem diferença estatística tanto para morte intra-hospitalar (P=0,16) como em 30 dias (P=0,14). Conclusão: A análise dos sete anos do banco de dados IQIC permitiu demonstrar a diminuição significante de infecção, aumento da complexidade das doenças e redução da mortalidade dos pacientes com cardiopatias congênitas em nosso meio.

Introdução: As infecções virais respiratórias agudas são as doenças mais comuns em humanos e estão associadas a grande morbidade e mortalidade em crianças, principalmente menores de 2 anos de idade, sobretudo nos países em desenvolvimento e em idosos nos países desenvolvidos. As crianças que apresentam cardiopatias congênitas estão mais susceptíveis a adquirir infecção viral devido à sua mecânica pulmonar alterada, o que pode gerar diversas complicações tanto no período pré-operatório quanto no período pós-operatório, tais como aumento no tempo de internação hospitalar, maior tempo de ventilação mecânica e maiores taxas de mortalidade. Este estudo teve como objetivo identificar a epidemiologia das infecções virais respiratória em crianças com cardiopatia congênita e comparar os desfechos: tempo de internação, tempo de ventilação mecânica e mortalidade, na presença ou não de infecção viral respiratório e determinar qual o momento que essas crianças adquirem a infecção viral. Trata-se de estudo longitudinal, observacional, do tipo coorte. Foram coletadas amostras de secreção nasofaringe no período pré e pós operatório de todos os pacientes submetidos à cirurgia cardíaca e analisados os dados gerais dos pacientes durante o tempo de internação no centro de terapia intensiva pediátrica, por meio de prontuário médico, entre maio de 2013 a maio de 2014. Resultados: Foram analisados 43 pacientes. Foi encontrada elevada prevalência de vírus respiratórios (39%) em crianças com cardiopatia congênita. No presente estudo não houve diferença estatisticamente dos desfechos em relação a infecção viral respiratória no modelo estatístico bivariável, por motivo de interferência de variáveis confundidoras, idade e RACHS-1. A seguir, foram ajustados modelos de regressão multivariável, para analisar os desfechos com a variáveis idade, RACHS-1 e infecção viral. A variável infecção viral respiratória apresentou efeito estatisticamente significativo no desfecho diferença arteriovenosa de oxigênio, enquanto as covariáveis idade e RACHS-1 tiveram efeito significativamente em todos os desfechos pesquisados no estudo. Conclusão: A prevalência de infecção viral respiratória em crianças submetidas a cirurgia cardíaca é alta. A infecção viral respiratória não apresentou efeito sobre os principais desfechos, apenas na diferença arteriovenosa de oxigênio / Introduction: Acute respiratory viral infections are the most common diseases in humans and are associated with high morbidity and mortality in children, especially those under two years of age, particularly in developing countries, and in the elderly from developed countries. Children with congenital heart disease are more likely to get viral infections due to their altered lung mechanics, which can lead to several complications in both the preoperative and postoperative period, such as increased hospital stay, longer mechanical ventilation and higher mortality rates. This study aimed to identify the epidemiology of respiratory viral infections in children with congenital heart disease, to compare the outcomes: hospital stay, duration of mechanical ventilation and mortality, in the presence or absence of respiratory viral infection, and determine the time when these children acquire viral infection. This is a longitudinal, observational cohort study. Nasopharyngeal secretion samples were collected pre- and postoperatively for all patients undergoing cardiac surgery. General data of patients were obtained during hospital stay from medical records, from May 2013 to May 2014. Results: We enrolled 43 patients. We found a high prevalence of respiratory viruses (39%) in children with congenital heart disease. In this study there was no statistically significant difference in outcomes in relation to respiratory viral infection in bivariate statistical model, because of interference from confounding variables, age and RACHS-1. We then used multivariate regression models to analyze outcomes with respect to independent variables age, RACHS-1 and viral infection. Respiratory viral infection showed a statistically significant effect on the outcome arteriovenous oxygen difference, while the covariables age and RACHS-1 showed significant effects on all outcomes investigated in the study. Conclusion: The prevalence of respiratory viral infection in children undergoing cardiac surgery is high. Respiratory viral infection did not affect the outcome, just in arteriovenous oxygen difference

Submitted by Rosina Valeria Lanzellotti Mattiussi Teixeira (rosina.teixeira@unisantos.br) on 2017-06-09T17:39:16Z No. of bitstreams: 1 Bruno Leandro de Souza.pdf: 1656878 bytes, checksum: 18ca7a9e5002384728445b4498f2a549 (MD5) / Made available in DSpace on 2017-06-09T17:39:17Z (GMT). No. of bitstreams: 1 Bruno Leandro de Souza.pdf: 1656878 bytes, checksum: 18ca7a9e5002384728445b4498f2a549 (MD5) Previous issue date: 2017-03-21 / In Paraíba, until October 2011, there was no action directed at children with congenital heart disease. With the creation of the Pernambuco-Paraíba Pediatric Cardiology Network, the structuring of the pediatric cardiology service was started. Our objective in this study was to verify the impact of the implantation of the Pediatric Cardiology Network with the use of telemedicine in the care of children with congenital heart disease in the Arlinda Marques Pediatric Hospital from 2012. Method: This was a transversal in the Arlinda Marques Pediatric Hospital (CPAM), a reference hospital in the state of Paraíba for high complexity child care, located in the city of João Pessoa / PB. Clinical data (types of heart disease diagnosed and treated with surgical procedure, year of the procedure) and sociodemographic data (age group, sex, municipality of origin and characteristics of the municipality) were analyzed from records of children with congenital heart disease who performed CPAM surgery between 2010 and 2013. The data were analyzed by comparative tests between groups and tests of comparison of means that were defined after initial analysis of the data, considering that the value of "p" less than 0,05. Statistical analyzes were performed using software R. Results: Data from 260 patients were analyzed. There was an increase in the number of procedures after the implantation of the network from 99 to 163. 78% of the procedures were PCA, CIA, CIV and T4F, being statistically significant the increase after the implantation of the network for the procedures in patients with VSD (p = 0.03) and T4F (p = 0.04). The increase in procedures in the period 2012-2013 was statistically significant for children less than 1 years old (p = 0.01) and from the Sertão and Paraiba¿s Agreste (p <0.01). There was also a positive correlation between the period after the implementation of the program and assistance to children in municipalities with a lower percentage of urban area (p <0.001). Conclusion: The Network, which uses telemedicine as a fundamental tool to internalize and democratize health care, has had a positive impact on the care of children with congenital heart disease in the state of Paraíba, by increasing the number of services to children with congenital heart disease, especially In children under 1 year of age, and to expand the service coverage area, especially for the mesoregions of the hinterland and Agreste and municipalities with the highest percentage in the rural area. / Na Paraíba, não havia ações coordenadas para as crianças com cardiopatia congênita, até outubro de 2011. Com a criação da Rede de Cardiologia Pediátrica Pernambuco-Paraíba iniciou-se a estruturação do serviço de cardiologia pediátrica. O objetivo, neste estudo, foi analisar o impacto da implantação da Rede de Cardiologia Pediátrica com o uso da telemedicina no atendimento de crianças com cardiopatia congênita no Complexo de Pediatria Arlinda Marques a partir de 2012. Método: Tratou-se de um transversal no Complexo de Pediatria Arlinda Marques (CPAM), hospital referência no estado da Paraíba para atendimento infantil de alta complexidade, situado na cidade de João Pessoa/PB. Foram analisados dados clínicos (tipos de cardiopatia diagnosticada e tratada com procedimento cirúrgico, ano da realização do procedimento) e sociodemográficos (faixa etária, sexo, município de origem e características do município) a partir de registros de prontuários de crianças com cardiopatia congênita que realizaram cirurgia no CPAM entre os anos de 2010 e 2013. Os dados foram analisados por testes de comparação entre grupos antes da implantação (2010 e 2011) e depois (2012 e 2013). Para as análises estatísticas foi utilizado o programa software R. Resultados: Foram analisados os dados de 260 pacientes. Houve aumento do número de procedimentos após a implantação da rede de 99 para 163, sendo que 78% dos procedimentos foram de persistência do canal arterial, comunicação interatrial, comunicação interventricular e tetralogia de Fallot. Após a implantação da rede o aumento, dos procedimentos foi estatisticamente significante em pacientes com CIV (p = 0,03) e T4F (p = 0,04) e para crianças menores de 1 anos (p = 0,01), de pacientes procedentes do sertão e agreste paraibanos (p<0,01) e de assistência às crianças em municípios com menor percentual de zona urbana (p<0,001). Conclusão: A Rede de Cardiologia Pediátrica Pernambuco-Paraíba que o uso da telemedicina é uma ferramenta útil e importante para interiorizar e democratizar a assistência à saúde, pois trouxe impacto positivo para o atendimento às crianças com cardiopatias congênitas no estado da Paraíba ao ampliar o número de atendimentos a crianças com cardiopatia congênitas, sobretudo em menores de 01 ano, e ampliar a área de abrangência de atendimento, especialmente para as mesorregiões do sertão e do agreste e municípios da com maior percentual na zona rural.

Congenital heart disease (CHD) is the major cause of death in the first year of life, the estimated incidence being 0.5-5% of live births; therefore it is important to understand the genetic causes underlying the complex process of heart formation to help prophylaxis, diagnosis and treatment of affected patients. CHD is the commonest phenotype associated with left-right (LR) disorders. LR asymmetry is determined during embryonic development. The three major body axes ? antero-posterior, dorso-ventral and left-right ? are patterned at gastrulation. LR asymmetry is established shortly after the two other major axes are patterned. The process of LR determination can be sub-divided into four integrated steps: 1. breaking of molecular symmetry in the gastrulation organizer; 2. transfer or relay of this asymmetric information to the lateral plate mesoderm (LPM), from which most internal organs will be formed; 3. reinforcement and propagation of asymmetric cues throughout the LPM and 4. conversion of asymmetric molecular information into proper organ morphogenesis. The goal of this work is to investigate mechanisms involved at two specific points in the laterality pathway: the initial generation/maintenance of asymmetric gene expression in the LPM and the morphogenetic translation of these early events into correct heart formation in the mouse. My emphasis has been on the characterization of laterality targeted cells via careful analysis of Pitx2c expression using a Pitx2c-lacZ reporter transgene, the role of BMP signalling, via Smad1, in generation/maintenance of early asymmetric signalling in the LPM, and the later involvement of both Smad1 and Pitx2 in cardiac morphogenesis through analyses of knockout mice.

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease (CHD). The understanding of the genetics and inheritance of TOF is limited. Although about 15% of cases are associated with a 22q11.2 deletion, the majority have no known aetiology. Even in 22q11.2 Deletion Syndrome (22q11DS), factors that increase the likelihood of CHD expression are poorly understood. We aimed to determine the prevalence and phenotypes of CHD in relatives of adults with TOF. We also investigated the prevalence of CHD in relatives without a 22q11.2 deletion of individuals with 22q11DS. Offspring of patients with TOF had the greatest prevalence of CHD. Diverse cardiac phenotypes, including left heart obstructive lesions, were found in families. We also found that unaffected relatives of individuals with 22q11DS had a greater prevalence of complex CHD over population expectations, suggesting that modifier genetic factors may be involved in expression of CHD in 22q11DS.

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease (CHD). The understanding of the genetics and inheritance of TOF is limited. Although about 15% of cases are associated with a 22q11.2 deletion, the majority have no known aetiology. Even in 22q11.2 Deletion Syndrome (22q11DS), factors that increase the likelihood of CHD expression are poorly understood. We aimed to determine the prevalence and phenotypes of CHD in relatives of adults with TOF. We also investigated the prevalence of CHD in relatives without a 22q11.2 deletion of individuals with 22q11DS. Offspring of patients with TOF had the greatest prevalence of CHD. Diverse cardiac phenotypes, including left heart obstructive lesions, were found in families. We also found that unaffected relatives of individuals with 22q11DS had a greater prevalence of complex CHD over population expectations, suggesting that modifier genetic factors may be involved in expression of CHD in 22q11DS.

Although medical advances have improved prognosis for children with cystic fibrosis (CF) and congenital heart disease (CHD), these youth experience poor psycho - social health. Embedded within the Medical Research Council’s framework, the purpose of this Dissertation was to a) examine how CF and CHD children experience physical activity, b) explore parents’ perceptions toward their child’s activity, c) develop a theory of physical activity in childhood chronic diseases, d) develop a physical activity counselling program for youth with CF and their parents, and e) evaluate the program impact on quality of life and physical activity. Study One explored how 14 CF youth experience physical activity. Active and inactive youth were characterized by different experiences, such as a sense of hope or despair. Given the burden of treatment and the fatal nature of the disease, youth negotiated temporal barriers to activity. Study Two explored perceptions toward activity among 29 CF and CHD parents. Parents discussed the benefits and barriers associated with physical activity for both child and self, and underscored the importance of role modeling. By adopting a Grounded Theory approach, the theoretical constructs from Study One and Two were crystallized to develop a theory of physical activity in youth with CF and CHD. This theory was used to develop “CF Chatters:” A Six Week Physical Activity Counselling Program for Youth with CF and their Parents, and the intervention employed behavioural self regulation ii skills. In Study Three, four case families in the CF clinic at the Hospital for Sick Children participated in CF Chatters. Improvements were noted in quality of life and physical activity, and participants described the program as convenient and relevant to their activity concerns. CF Chatters afforded therapeutic benefits to participants. By employing an eclectic qualitative approach, this Doctoral Program has made theoretical and practical contributions toward our understanding of how physical activity is experienced among children living with CF/CHD. The findings support the use of behavioural counselling as an effective and feasible modality for enhancing quality of life and physical activity. This Dissertation calls on clinicians to attend to the activity needs of chronically ill Canadian youth.