Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience

OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the diseases. The objective of this study was to assess the diagnostic capacity of multiplex ligation-dependent probe amplification and array techniques for etiologic diagnosis of syndromic patients. METHODS: We analyzed 93 patients with developmental delay and multiple congenital abnormalities using multiplex ligation-dependent probe amplifications and arrays. RESULTS: Multiplex ligation-dependent probe amplification using different kits revealed several changes in approximately 33.3% of patients. The use of arrays with different platforms showed an approximately 53.75% detection rate for at least one pathogenic change and a 46.25% detection rate for patients with benign changes. A concomitant assessment of the two techniques showed an approximately 97.8% rate of concordance, although the results were not the same in all cases. In contrast with the array results, the MLPA technique detected ∼70.6% of pathogenic changes. CONCLUSION: The obtained results corroborated data reported in the literature, but the overall detection rate was higher than the rates previously reported, due in part to the criteria used to select patients. Although arrays are the most efficient tool for diagnosis, they are not always suitable as a first-line diagnostic approach because of their high cost for large-scale use in developing countries. Thus, clinical and laboratory interactions with skilled technicians are required to target patients for the most effective and beneficial molecular diagnosis

Os desafios do atendimento de pacientes com sequelas cardiovasculares decorrentes de trauma do tórax / Challenges in the care of patients with cardiovascular sequels resulting from chest trauma

Introdução: O tórax apresenta estruturas de diversos sistemas de sustentação da vida, dentre eles o respiratório e o cardiovascular. Por conter, estruturas nobres para a manutenção da vida, os potenciais para ocorrer lesões graves em decorrência de traumas são muito grandes, como dados mostram, 25% das mortes são secundárias a trauma torácico. Dentro deste contexto, questiona-se quais os desafios no atendimento de pacientes com sequelas cardiovasculares decorrentes de traumas torácicos? Portanto, esse estudo tem como objetivo identificar as dificuldades enfrentadas na assistência de saúde de pacientes com repercussões cardiovasculares devido a trauma de tórax, através da elaboração de um formulário baseado em revisão bibliográfica de dados da literatura científica publicados sobre esse tema. Metodologia: O trabalho baseia-se numa revisão integrativa de literatura, na qual foram analisados artigos publicados em revistas científicas, utilizando-se das bases de dados da BVS (Biblioteca Virtual da Saúde), como: Lilacs (Literatura Latino-Americana e do Caribe em Ciências da Saúde) e Scielo (Scientific Electronic Library Online). Resultados: Após as análises e seleção, restaram-se sete artigos para integrar a discussão. Os artigos selecionados, estão descritos na tabela, com autores, título, metodologia, resultados e conclusão. Em seguida, foi realizada uma discussão acerca destes artigos. Conclusão: Cada um dos casos revisados neste estudo demonstra a necessidade e a importância de acompanhamento cuidadoso de todos os pacientes que sofreram trauma torácico fechado, mesmo que a avaliação cardíaca inicial possa ser negativa.

Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience

OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the diseases. The objective of this study was to assess the diagnostic capacity of multiplex ligation-dependent probe amplification and array techniques for etiologic diagnosis of syndromic patients. METHODS: We analyzed 93 patients with developmental delay and multiple congenital abnormalities using multiplex ligation-dependent probe amplifications and arrays. RESULTS: Multiplex ligation-dependent probe amplification using different kits revealed several changes in approximately 33.3% of patients. The use of arrays with different platforms showed an approximately 53.75% detection rate for at least one pathogenic change and a 46.25% detection rate for patients with benign changes. A concomitant assessment of the two techniques showed an approximately 97.8% rate of concordance, although the results were not the same in all cases. In contrast with the array results, the MLPA technique detected ∼70.6% of pathogenic changes. CONCLUSION: The obtained results corroborated data reported in the literature, but the overall detection rate was higher than the rates previously reported, due in part to the criteria used to select patients. Although arrays are the most efficient tool for diagnosis, they are not always suitable as a first-line diagnostic approach because of their high cost for large-scale use in developing countries. Thus, clinical and laboratory interactions with skilled technicians are required to target patients for the most effective and beneficial molecular diagnosis