Avaliação citogenômica em indivíduos com cardiopatias congênitas conotruncais

As cardiopatias congênitas (CCs) são o grupo mais comum de defeitos congênitos graves, afetando 4 a 12 em cada 1.000 nascimentos, sendo uma importante causa de defeitos congênitos associados à mortalidade infantil. Vias biológicas moleculares e celulares complexas estão envolvidas no desenvolvimento do coração, e pouco se sabe sobre os mecanismos subjacentes das CCs. Os defeitos conotruncais, malformações com significativa morbidade, representam cerca de 20% de todos os casos de CCs. Apesar dos avanços no tratamento médico e cirúrgico, a etiologia das CCs ainda não é totalmente compreendida. Com mais crianças com CC sobrevivendo até a idade adulta e começando a formar famílias, torna-se ainda mais crítico a compreensão das bases genéticas das CCs. Estudos clássicos indicaram que a origem da CC é multifatorial, devido tanto à predisposição genética quanto às influências ambientais. Os desequilíbrios genômicos que levam à variação do número de cópias parecem ter uma influência muito maior sobre o desenvolvimento de vários tipos de CCs do que previsto anteriormente. Neste trabalho, utilizamos hibridização genômica comparativa baseada em microarranjos (array-CGH) para estudar retrospectivamente 60 indivíduos com defeitos conotruncais e identificar desequilíbrios genômicos. As variações no número de cópias de DNA (CNVs) detectadas foram comparadas com dados de bancos de dados genômicos, e seu significado clínico foi avaliado. Detectamos em 38,3% (23/60) dos casos de CCs desequilíbrios genômicos. Em 8,3% (5/60) destes casos, os desequilíbrios foram causais; em 8,3% (5/60), CNVs de significado desconhecido foram identificadas; e, em 21,6% (13/60), foram detectadas variantes comuns. Concluimos que, a interpretação dos resultados deve ser refinada, e embora ainda não exista um consenso a respeito dos tipos de CCS que devem ser avaliados por uma análise citogenômica, a identificação da variação do número de cópias em indivíduos com cardiopatias congênitas conotruncais pode, potencialmente, ajudar na avaliação e manejo desta condição. O uso prospectivo ou retrospectivo do array-CGH como uma ferramenta diagnóstica beneficiaria as famílias afetadas ao fornecer um diagnóstico mais preciso, influenciando o manejo global da doença em um número significativo de casos. Além disso, os resultados desse estudo ressaltam a importância crescente do uso de análises genômicas amplas para identificar CNVs em pacientes com CCs, aumentando assim a informação disponível sobre variações genômicas associadas a esta condição.Congenital heart defects (CHDs) are the commonest group of major birth defects, affecting four to twelve per 1,000 total births, being an important cause of birth defects associated infant mortality. Complex molecular and cell biological pathways are involved in heart development, and little is known about the underlying mechanisms of CHDs. The conotruncal defects, malformations with significant morbidity and mortality, represent about 20% of all CHD cases. Despite advances in medical and surgical care, the etiology of CHD is still not completely understood. With more children with CHD surviving to adulthood and starting families, it becomes even more critical to understand the genetic bases of CHD. Classic studies have found that CHD is multifactorial, due to both genetic predisposition and environmental influences. Genomic imbalances leading to copy number changes seems to have a much greater influence on the development of various types of CHD than previously predicted. We used array-comparative genomic hybridization (array-CGH) to retrospectively study 60 subjects with conotruncal defects and identify genomic imbalances. The DNA copy number variations (CNVs) detected were matched with data from genomic databases, and their clinical significance was evaluated. We found that 38.3% (23/60) of CHD cases possessed genomic imbalances. In 8.3% (5/60) of these cases, the imbalances were causal; in 8.3% (5/60), CNVs of unknown significance were identified; and in 21.6% (13/60), common variants were detected. In conclusion, although the interpretation of the results must be refined, and although there is not yet a consensus regarding which types of CHD should be evaluated by cytogenomic analysis, the identification of copy number changes in subjects with conotruncal congenital heart defects can potentially help in the evaluation and management of this condition. The use of retrospective or prospective array-CGH as a diagnostic tool would benefit families by providing a more accurate diagnosis and would affect overall disease management in a significant number of cases. Furthermore, the results of such studies emphasize the growing importance of the use of genome-wide assays to identify CNVs in subjects with CHD, thereby increasing the available information about of genomic variation associated to this condition

Care needs of hospitalized cancer patients: application of NANDA taxonomy

Objectives: To identify care needs of cancer patient and correlate these needs with the domains of NANDA taxonomy. Method: Qualitative study conducted in clinical wards for hospitalization of adults of a university hospital in Rio de Janeiro. Seven interviews were conducted and analyzed by the method of thematic analysis. Results: The interviews showed that cancer patients have their sleep patterns, nutrition and eliminations changed during hospitalization. Also underlined the hope of a cure, the belief and support of family and friends actuate in the process of coping with the disease. In the interviews two dimensions of nursing were identified: nursing related to techniques and proceedings, and Nursing related to therapeutic communication. Conclusion: To identify needs for nursing care means to completely observe those patients, see beyond the disease, see a human being who has beliefs, values, coping skills, and strong support from family and friends

Evaluation factors for determining the quality of life of physically independent elderly

Introduction: Brazil has experienced an epidemiological transition process, characterized by an aging population, with a rise in chronic diseases and reduction in infectious diseases. In this context, aging brings about the presence of multimorbidities and the use of multiple drugs associated with a worse quality of life of those people. Objectives: To analyze the determinants of quality of life in physically independent elderly. Method: Cross-sectional study of 498 elderly physically independent, divided into three groups according to the presence of comorbidities: I) Control group: no comorbidities; II) Group comorbidities: <3 comorbidities; and III) multimorbidities Group: ≥ 3 comorbidities and were also stratified on the use of medications in: I) Control group: non-medicated; II) medicated Group: <3 drugs; and III) polymedicated Group: ≥ 3 drugs. Structured questionnaires were applied to survey data on socio-demographic characteristics, history of comorbidities and medication use, as well as the SF-36 questionnaire as a quality of life assessment method. Results: Statistically significant differences were found in the quality of life regarding gender, educational level, economic status and multimorbidities. The results show that in elderly populations there is inequality in non-white races and among women in matters regarding access to health services. These groups show bigger probability to have more serious chronic conditions and a bad perception of health and quality of life. It is also very clear that in third world countries, a lot of elderly live in poverty having difficulties in the area of health, a major challenge to the implementation of public policies for the care of those people. Lastly, the results make it evident that the aging process has a direct relationship to the amount of installed diseases and increased use of medications. Conclusion: As much as the results showed that the decline of quality of life in physically independent elderly is related to the presence of multimorbidities and high medication intake, researchers state that people can age with a good quality of life if they opt for a successful aging process where significant activities gain space along with daily actions. Introdução: O Brasil tem passado por um processo de transição epidemiológica, caracterizado por um envelhecimento populacional, com um aumento das doenças crônico-degenerativas e redução das doenças infectocontagiosas. Nesse contexto, o envelhecimento ocasiona a presença de multimorbidades e uso de múltiplos fármacos os quais estão associados a uma pior qualidade de vida dessas pessoas Objetivos: Analisar os fatores determinantes da qualidade de vida de idosos fisicamente independentes. Método: Estudo transversal com 498 idosos fisicamente independentes, alocados em três grupos quanto à presença de comorbidades: I) Grupo controle: sem comorbidades; II) Grupo comorbidades: < 3 comorbidades; e III) Grupo multimorbidades: ≥ 3 comorbidades e também estratificados quanto à utilização de medicamentos em: I) Grupo controle: não medicado; II) Grupo medicado: < 3 medicamentos; e III)Grupo polimedicado: ≥ 3 medicamentos. Foram aplicados questionários estruturados para levantamento de dados sobre características sociodemográficas, história de comorbidades e consumo de medicamentos, além do questionário SF-36 como um método de avaliação de qualidade de vida. Resultados: Foram encontradas diferenças estatisticamente significantes na qualidade de vida em relação ao gênero, escolaridade, classificação econômica e presença de multimorbidades. Os resultados mostram que nas populações idosas existe uma desigualdade nas raças não brancas e no sexo feminino nas questões referentes ao acesso a serviços de saúde, estando estes grupos mais próximos a terem condições crônicas mais graves e mostrando ter uma percepção ruim sobre a saúde e qualidade de vida. Também é muito evidente que em países de terceiro mundo, uma grande quantidade de idosos vive em situação de pobreza apresentando dificuldades no domínio da saúde, sendo um grande desafio a implementação de políticas públicas para o atendimento dessas pessoas. Enfim, os resultados deixam claro que o processo de envelhecimento tem uma relação direta com a quantidade de doenças instaladas e aumento do uso de medicamentos. Conclusão: Por mais que os resultados mostraram que a piora na qualidade de vida em idosos fisicamente independentes está relacionada à presença de multimorbidades e alto consumo de medicamentos, pesquisadores nos esclarecem que as pessoas podem envelhecer com uma boa qualidade de vida se optarem por um envelhecimento bem sucedido onde as atividades significativas ganham espaço junto nas ações da vida diária

A comparison of consultative psychiatric services in two Brazilian university hospitals using a standardized protocol for recording liaison consultations

O objetivo do presente estudo foi comparar pedidos de interconsulta psiquiátrica realizados para dois hospitais gerais universitários brasileiros e avaliar a aplicabilidade de um protocolo de registro de interconsulta psiquiátrica (PRISMe). Foi realizada análise dos pedidos de interconsulta, do PRISMe anexado a eles e o número total de pedidos de interconsulta incluídos na amostra foi 541 (438 pedidos de interconsulta do HCFMRP-USP e 103 pedidos de interconsulta do HU-UFSC). Observou-se maior freqüência de solicitação para pacientes do sexo feminino, caucasianos, entre 31 a 60 anos e casados. Os diagnósticos psiquiátricos mais freqüentes foram depressão, transtornos de adaptação e de personalidade. Os resultados estão de acordo com a literatura nacional e internacional e as diferenças encontradas podem ser atribuídas às diferenças na infra-estrutura das instituições e nos contextos sócio-econômicos nos quais estão inseridas. Achados do presente estudo demonstram a aplicabilidade do PRISMe e sugerem que podem facilitar a sistematização da obtenção de achados clínico-demográficos e a comparabilidade entre as diferenças.The objective of the present report was to compare consultative psychiatric services in two Brazilian university hospitals and to evaluate the applicability of a standardized protocol (PRISMe) for recording psychiatric liaison consultations. Analyses of psychiatric consultations and the attached protocol were performed. 541 consecutive liaison consultations were included in the final sample (438 consecutive consultations from the Federal university hospital in São Paulo and 103 from the Federal university hospital in Santa Catarina). In both hospitals, the majority of patients were female, married, white, and 31 to 60 years of age. Depression and adjustment and personality disorders were the most common psychiatric diagnoses, which could explain the higher referral of female patients. The results are consistent with the Brazilian and international literature, and the differences between the two hospitals could be related to both logistical differences between the consultative psychiatric services and the socioeconomic contexts. The findings confirm the applicability of the PRISMe and suggest that systematization of clinical and demographic information is important for future comparative studies.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)USP - Fundação de Apoio ao Ensino, Pesquisa e Assistência (FAEPA) do HCFMR

Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil

Introduction: During the past few decades, the number of diseases identified to be caused by chromosomal microdeletions has increased quickly, bringing a new and crucial role for cytogenetics on the diagnosis of these conditions. The purpose of this study was to identify and characterize chromosomal microdeletions associated with malformation syndromes and intellectual disability. Methods: We retrospectively evaluated a consecutive series of samples from a cohort of 598 subjects with clinical symptoms of a microdeletion syndrome, including the deletion of chromosomes 4p16.3, 5p15.2, 5q35, 7q11.23, 8q24.12, 15q11.2, 16p13.3, 17p13.3, 17p11.2,2, and 22q11.2, as investigated by fluorescence in situ hybridization (FISH). Array-based comparative genomic hybridization (array-CGH) was performed on 25 samples with microdeletions. Results: A total of 598 samples were evaluated from patients whose clinical phenotypes were most indicative of 22q11.2 deletion syndrome (29.10%), Prader-Willi syndrome (23.41%), Angelman syndrome (16.89%), and Williams-Beuren syndrome (14.72%). In 142 of the samples (23.75%), a chromosomal imbalance associated with phenotypic abnormalities was found. The deletion of 7q11.23 was the most frequent (8.03%), followed by del22q11.2 (5.68%) and del15q11.2 (5%). Conclusion: Our study reinforces the idea that the effort to improve the capacity to perform molecular cytogenetic investigations associated with a qualified clinical evaluation is crucial for the detection and precise characterization of submicroscopic chromosome deletions, bringing benefits to patients, relatives, and genetic counselors. It also contributes to the continuing education of cytogeneticists and to the knowledge of chromosomal rearrangements associated with genomic disorders

Molecular cytogenetic evaluation of chromosomal microdeletions : the experience of a public hospital in southern Brazil

Introduction: During the past few decades, the number of diseases identified to be caused by chromosomal microdeletions has increased quickly, bringing a new and crucial role for cytogenetics on the diagnosis of these conditions. The purpose of this study was to identify and characterize chromosomal microdeletions associated with malformation syndromes and intellectual disability. Methods: We retrospectively evaluated a consecutive series of samples from a cohort of 598 subjects with clinical symptoms of a microdeletion syndrome, including the deletion of chromosomes 4p16.3, 5p15.2, 5q35, 7q11.23, 8q24.12, 15q11.2, 16p13.3, 17p13.3, 17p11.2,2, and 22q11.2, as investigated by fluorescence in situ hybridization (FISH). Array-based comparative genomic hybridization (array-CGH) was performed on 25 samples with microdeletions. Results: A total of 598 samples were evaluated from patients whose clinical phenotypes were most indicative of 22q11.2 deletion syndrome (29.10%), Prader-Willi syndrome (23.41%), Angelman syndrome (16.89%), and Williams-Beuren syndrome (14.72%). In 142 of the samples (23.75%), a chromosomal imbalance associated with phenotypic abnormalities was found. The deletion of 7q11.23 was the most frequent (8.03%), followed by del22q11.2 (5.68%) and del15q11.2 (5%). Conclusion: Our study reinforces the idea that the effort to improve the capacity to perform molecular cytogenetic investigations associated with a qualified clinical evaluation is crucial for the detection and precise characterization of submicroscopic chromosome deletions, bringing benefits to patients, relatives, and genetic counselors. It also contributes to the continuing education of cytogeneticists and to the knowledge of chromosomal rearrangements associated with genomic disorders

Estratégias de aquisição da casa própria: a trajetória de algumas famílias negras paulistanas nas décadas de 1920 a 1940

In Brazil, there is a cultural belief that property acquisition is the wisest attitude to ensure a safe and stable economy. For generations, the "dream of property ownership" has been cultivated as a horizon to be achieved. Confirming this tendency, since the 1920s, "casa propria" (home ownership) became a notion mobilized in the black press periodicals, circulating as a desirable aspiration and an orientation to the journals public. Between 1924 and 1937, two of the main newspapers of São Paulo black press, O Clarim da Alvorada and A Voz da Raça, carried out a campaign in favor of property ownership, spreading among paulista black families the importance of property acquisition. These campaigns are an important sign for the relevance of buying a property for black families at that time. In this paper, we seek to analyze it as an intergenerational social security strategy, through the presentation of three cases of black families that accomplished this goal between 1920s and 1940s. The black families testimonies reported here indicate precocity, specificities and strategies that represent new challenges for the formulation of property ownership problem, from a racial point of view.No Brasil, há uma crença cultural de que a atitude mais sábia para garantir uma economia doméstica segura e estável é a aquisição da casa própria. Por gerações, o “sonho da casa própria” tem sido cultivado como um horizonte a se atingir. Confirmando essa tendência, desde a década de 1920, a “casa própria” torna-se uma noção mobilizada nos periódicos da imprensa negra, circulando em diversos artigos como uma aspiração desejável e uma orientação ao público dos jornais. Entre 1924 e 1937, dois dos principais jornais da imprensa negra paulista, O Clarim da Alvorada e A Voz da Raça, realizaram uma campanha em favor da casa própria, difundindo entre as famílias negras paulistanas a ideia da importância da aquisição imobiliária. Essas campanhas constituem um indício importante da relevância da aquisição residencial para as famílias negras do período. Neste trabalho, procuramos analisar essa importância como estratégia de seguridade social intergeracional, por meio da apresentação de três casos de famílias negras que realizaram esse objetivo entre as décadas de 1920 e 1940. Os depoimentos das famílias negras aqui reportados indicamprecocidade, especificidades e estratégias que representam novos desafios para a reflexão sobre a formulação do problema da casa própria, a partir do ponto de vista racial