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3.
Arq Bras Cardiol ; 118(1): 61-67, 2022 Jan.
Artigo em Inglês, Português | MEDLINE | ID: mdl-35195210

RESUMO

BACKGROUND: Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and to start the treatment, allowing the inclusion of patients in society and reducing the financial cost of such diseases. OBJECTIVE: The initial proposal of this study was cytogenetic screening for the detection of the 22q11.2 deletion syndrome in consecutive newborns and infants with congenital heart disease using the multiplex ligation-dependent probe amplification (MLPA) technique. Therefore, throughout our research, other genomic alterations were identified in these cardiac patients. Thus, our objective was extended to investigate these other cytogenetic alterations. METHODS: We investigated 118 neonates with congenital heart diseases born consecutively during one year using the MLPA technique. RESULTS: The MLPA technique allowed the detection of 22q11.2DS in 10/118 patients (8.5%). Other genomic alterations were also identified in 6/118 patients (5%): 1p36 del, 8p23 del (2 cases), 7q dup, 12 dup and 8q24 dup. CONCLUSION: This study highlights the relevance of detecting genomic alterations that are present in newborns and infants with congenital cardiac diseases using cytogenomic tools.


FUNDAMENTO: Algumas síndromes têm características específicas e facilmente reconhecíveis, enquanto outras podem ser mais complexas de se identificar e podem apresentar diferentes manifestações fenotípicas, por exemplo. Um diagnóstico etiológico é importante para entender a natureza da doença, para estabelecer o prognóstico e para começar o tratamento, permitindo a inclusão de pacientes na sociedade e reduzindo o custo financeiro dessas doenças. OBJETIVO: A proposta inicial deste estudo foi a triagem citogenética para detectar a síndrome de deleção 22q11.2 (SD22q11.2) em recém-nascidos e crianças com doença cardíaca congênita utilizando a técnica da amplificação multiplex de sondas dependente de ligação (MLPA). Assim, por meio da pesquisa, outras mudanças genômicas foram identificadas nesses pacientes cardíacos. Nosso objetivo se estendeu a investigar essas outras mudanças citogenéticas. MÉTODOS: Investigamos 118 recém-nascidos com doenças cardíacas congênitas nascidos consecutivamente durante um ano, utilizando a técnica da MLPA. RESULTADOS: A técnica da MLPA permitiu a detecção da SD22q11.2 em 10/118 pacientes (8,5%). Outras alterações genômicas foram identificadas em 6/118 pacientes (5%): 1p36 del, 8p23 del (2 casos), 7q dup, 12 dup e 8q24 dup. CONCLUSÃO: Este estudo ressalta a relevância da detecção de alterações genômicas que estão presentes em recém-nascidos e crianças com doenças cardíacas congênitas por meio de ferramentas citogenômicas.


Assuntos
Síndrome de DiGeorge , Cardiopatias Congênitas , Brasil , Deleção Cromossômica , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Humanos , Lactente , Recém-Nascido , Programas de Rastreamento , Reação em Cadeia da Polimerase Multiplex/métodos
4.
Arq. bras. cardiol ; 118(1): 61-67, jan. 2022. tab
Artigo em Português | LILACS | ID: biblio-1360115

RESUMO

Resumo Fundamento Algumas síndromes têm características específicas e facilmente reconhecíveis, enquanto outras podem ser mais complexas de se identificar e podem apresentar diferentes manifestações fenotípicas, por exemplo. Um diagnóstico etiológico é importante para entender a natureza da doença, para estabelecer o prognóstico e para começar o tratamento, permitindo a inclusão de pacientes na sociedade e reduzindo o custo financeiro dessas doenças. Objetivo A proposta inicial deste estudo foi a triagem citogenética para detectar a síndrome de deleção 22q11.2 (SD22q11.2) em recém-nascidos e crianças com doença cardíaca congênita utilizando a técnica da amplificação multiplex de sondas dependente de ligação (MLPA). Assim, por meio da pesquisa, outras mudanças genômicas foram identificadas nesses pacientes cardíacos. Nosso objetivo se estendeu a investigar essas outras mudanças citogenéticas. Métodos Investigamos 118 recém-nascidos com doenças cardíacas congênitas nascidos consecutivamente durante um ano, utilizando a técnica da MLPA. Resultados A técnica da MLPA permitiu a detecção da SD22q11.2 em 10/118 pacientes (8,5%). Outras alterações genômicas foram identificadas em 6/118 pacientes (5%): 1p36 del, 8p23 del (2 casos), 7q dup, 12 dup e 8q24 dup. Conclusão Este estudo ressalta a relevância da detecção de alterações genômicas que estão presentes em recém-nascidos e crianças com doenças cardíacas congênitas por meio de ferramentas citogenômicas.


Abstract Background Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and to start the treatment, allowing the inclusion of patients in society and reducing the financial cost of such diseases. Objective The initial proposal of this study was cytogenetic screening for the detection of the 22q11.2 deletion syndrome in consecutive newborns and infants with congenital heart disease using the multiplex ligation-dependent probe amplification (MLPA) technique. Therefore, throughout our research, other genomic alterations were identified in these cardiac patients. Thus, our objective was extended to investigate these other cytogenetic alterations. Methods We investigated 118 neonates with congenital heart diseases born consecutively during one year using the MLPA technique. Results The MLPA technique allowed the detection of 22q11.2DS in 10/118 patients (8.5%). Other genomic alterations were also identified in 6/118 patients (5%): 1p36 del, 8p23 del (2 cases), 7q dup, 12 dup and 8q24 dup. Conclusion This study highlights the relevance of detecting genomic alterations that are present in newborns and infants with congenital cardiac diseases using cytogenomic tools.


Assuntos
Humanos , Recém-Nascido , Lactente , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Brasil , Programas de Rastreamento , Deleção Cromossômica , Reação em Cadeia da Polimerase Multiplex/métodos
5.
Dig Dis Sci ; 67(2): 423-436, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-33625614

RESUMO

Inflammatory bowel disease (IBD) can involve multiple organ systems, and pancreatic manifestations of IBD are not uncommon. The incidence of several pancreatic diseases is more frequent in patients with Crohn's disease and ulcerative colitis than in the general population. Pancreatic manifestations in IBD include a heterogeneous group of disorders and abnormalities ranging from mild, self-limited disorders to severe diseases. Asymptomatic elevation of amylase and/or lipase is common. The risk of acute pancreatitis in patients with IBD is increased due to the higher incidence of cholelithiasis and drug-induced pancreatitis in this population. Patients with IBD commonly have altered pancreatic histology and chronic pancreatic exocrine dysfunction. Diagnosing acute pancreatitis in patients with IBD is challenging. In this review, we discuss the manifestations and possible causes of pancreatic abnormalities in patients with IBD.


Assuntos
Colelitíase/complicações , Colite Ulcerativa/complicações , Doença de Crohn/complicações , Neoplasias Pancreáticas/complicações , Pancreatite Crônica/complicações , Pancreatite/etiologia , Antibacterianos/efeitos adversos , Anti-Inflamatórios não Esteroides/efeitos adversos , Pancreatite Autoimune/complicações , Azatioprina/efeitos adversos , Colangite Esclerosante/complicações , Colite Ulcerativa/tratamento farmacológico , Doença de Crohn/tratamento farmacológico , Glucocorticoides/efeitos adversos , Humanos , Imunossupressores/efeitos adversos , Doenças Inflamatórias Intestinais/complicações , Doenças Inflamatórias Intestinais/tratamento farmacológico , Uso da Maconha/efeitos adversos , Mesalamina/efeitos adversos , Pancreatite/diagnóstico , Pancreatite/terapia , Pancreatite Alcoólica/complicações , Inibidores do Fator de Necrose Tumoral/efeitos adversos
6.
Clinics ; 77: 100045, 2022. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1384602

RESUMO

Abstract Objectives Copy Number Variations (CNVs) in the human genome account for common populational variations but can also be responsible for genetic syndromes depending on the affected region. Although a deletion in 5p is responsible for a syndrome with highly recognizable phenotypical features, other chromosomal abnormalities might overlap phenotypes, especially considering that most studies in 5p use traditional cytogenetic techniques and not molecular techniques. Methods The authors have investigated 29 patients with clinical suspicion of 5p- syndrome using Chromosomal Microarray (CMA), and have gathered information on previous tests, clinical signs, symptoms, and development of the patients. Results The results showed 23 pure terminal deletions, one interstitial deletion, one deletion followed by a 3 Mb duplication in 5p, three cases of 5p deletion concomitant to duplications larger than 20 Mb in chromosomes 2, 9, and 18, and one 5p deletion with a chromosome Y deletion. CMA showed relevant CNVs not typically associated with 5p- that may have contributed to the final phenotype in these patients. Conclusions The authors have identified three novel rearrangements between chromosomes 5 and 2 (Patient 27), 5 and 18 (Patient 11), and 5 and Y (Patient 22), with breakpoints and overlapped phenotypes that were not previously described. The authors also highlight the need for further molecular investigation using CMA, in different chromosomes beyond chromosome 5 (since those cases did not show only the typical deletion expected for the 5p- syndrome) to explain discordant chromosomal features and overlapped phenotypes to unravel the cause of the syndrome in atypical cases. HIGHLIGHTS The authors The authors have described three novel rearrangements between chromosomes 5 and 2, 5 and 18, and 5 and Y with chromosomal breakpoints and overlapped phenotypes that were not previously described. One of the main atypical features for 5p- syndrome that the authors report was the presence of seizures that was found in the three patients with rearrangements between different chromosomes and in a patient with a deletion followed by duplication in 5p. The authors suggest physicians conduct further molecular investigation in the presence of atypical clinical features for patients with 5p- syndrome suspicion.

7.
Clin Immunol ; 220: 108590, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32920211

RESUMO

22q11.2 deletion syndrome (22q11.2DS) has a heterogeneous presentation that includes multiple congenital anomalies and immunodeficiency, one of the most striking features. Usually, it is characterized by T cell lymphopenia, B cell dysfunction and autoimmunity. Here, we describe an unusual case of 22q11.2DS in a patient with lymphoproliferative disorder, polyautoimmunity and hypogammaglobulinemia.


Assuntos
Síndrome da Deleção 22q11/complicações , Agamaglobulinemia/etiologia , Transtornos Linfoproliferativos/etiologia , Síndrome da Deleção 22q11/imunologia , Adolescente , Agamaglobulinemia/imunologia , Autoimunidade , Feminino , Humanos , Transtornos Linfoproliferativos/imunologia
8.
Mol Genet Genomic Med ; 8(4): e1133, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32073752

RESUMO

BACKGROUND: Bloom syndrome (BS) is a rare autosomal recessive chromosome instability disorder. The main clinical manifestations are growth deficiency, telangiectasic facial erythema, immunodeficiency, and increased risk to develop neoplasias at early age. Cytogenetic test for sister chromatid exchanges (SCEs) is used as a diagnostic marker for BS. In addition, most patients also present mutations in the BLM gene, related to defects in the DNA repair mechanism. However, the molecular mechanism behind the pathogenicity of BS is still not completely understood. METHODS: We describe two patients confirmed with BS by SCE and molecular analysis. Also, we performed the gene expression profile by the RNA-seq methodology in mRNA transcripts for differential gene expression analysis using as a biological condition for comparison BS versus health controls. RESULTS: We detected 216 differentially expressed genes related to immunological pathways such as positive regulation and activation of B cells, immune effector process and absence of difference of DNA repair genes expression. In addition; we also observed differentially expressed genes associated with apoptosis control, such as BCL2L1, CASP7, CDKN1A, E2F2, ITPR, CD274, TNFAIP6, TNFRSF25, TNFRSF13C, and TNFRSF17. CONCLUSION: Our results suggest that the combination of altered expression of genes involved in signaling pathways of immune response and apoptosis control may contribute directly to the main characteristics observed in BS, such as recurrent infections, growth failure, and high risk of cancer. Transcriptome studies of other instability syndromes could allow a more accurate analysis of the relevant gene interactions associated with the destabilization of the genome. This is a first description of the profile of differential gene expression related to immunological aspects detected in patients with BS by RNA-seq.


Assuntos
Síndrome de Bloom/genética , Transcriptoma , Adolescente , Adulto , Apoptose , Linfócitos B/imunologia , Síndrome de Bloom/imunologia , Feminino , Humanos , Masculino
9.
Clinics ; 72(9): 526-537, Sept. 2017. tab, graf
Artigo em Inglês | LILACS | ID: biblio-890734

RESUMO

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.


Assuntos
Humanos , Criança , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Brasil , Variações do Número de Cópias de DNA , Reação em Cadeia da Polimerase Multiplex/instrumentação , Reação em Cadeia da Polimerase Multiplex/métodos , Análise de Sequência com Séries de Oligonucleotídeos/instrumentação , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Padrões de Referência , Valores de Referência , Reprodutibilidade dos Testes
10.
Braz J Cardiovasc Surg ; 31(5): 351-357, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27982343

RESUMO

Objective: Composite graft of left internal thoracic artery and great saphenous vein in revascularization of the left coronary system is a technique well described in literature. The aim of this study is to analyze blood flow dynamics in this configuration of composite graft especially in what concerns left internal thoracic artery's adaptability and influence of great saphenous vein segment on left internal thoracic artery's flow. Methods: Revascularization of left coronary system with composite graft, with left internal thoracic artery revascularizing the anterior interventricular artery and a great saphenous vein segment, anastomosed to the left internal thoracic artery, revascularizing another branch of the left coronary system, was performed in 23 patients. Blood flow was evaluated by transit time flowmetry in all segments of the composite graft (left internal thoracic artery proximal segment, left internal thoracic artery distal segment and great saphenous vein segment). Measures were performed in baseline condition and after dobutamine-induced stress, without and with non-traumatic temporary clamping of the distal segments of the composite graft. Results: Pharmacological stress resulted in increase of blood flow values in the analyzed segments (P<0.05). Non-traumatic temporary clamping of great saphenous vein segment did not result in statistically significant changes in the flow of left internal thoracic artery distal segment, both in baseline condition and under pharmacological stress. Similarly, non-traumatic temporary clamping of left internal thoracic artery distal segment did not result in statistically significant changes in great saphenous vein segment flow. Conclusion: Composite grafts with left internal thoracic artery and great saphenous vein for revascularization of left coronary system, resulted in blood flow dynamics with physiological adaptability, both at rest and after pharmacological stress, according to demand. Presence of great saphenous vein segment did not alter physiological blood flow dynamics in distal segment of left internal thoracic artery.


Assuntos
Velocidade do Fluxo Sanguíneo/fisiologia , Ponte de Artéria Coronária/métodos , Reserva Fracionada de Fluxo Miocárdico/fisiologia , Anastomose de Artéria Torácica Interna-Coronária , Artéria Torácica Interna/fisiologia , Veia Safena/fisiologia , Idoso , Feminino , Humanos , Período Intraoperatório , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Enxerto Vascular , Grau de Desobstrução Vascular/fisiologia , Resistência Vascular/fisiologia
11.
Rev. bras. cir. cardiovasc ; 31(5): 351-357, Sept.-Oct. 2016. tab, graf
Artigo em Inglês | LILACS | ID: biblio-829758

RESUMO

Abstract Objective: Composite graft of left internal thoracic artery and great saphenous vein in revascularization of the left coronary system is a technique well described in literature. The aim of this study is to analyze blood flow dynamics in this configuration of composite graft especially in what concerns left internal thoracic artery's adaptability and influence of great saphenous vein segment on left internal thoracic artery's flow. Methods: Revascularization of left coronary system with composite graft, with left internal thoracic artery revascularizing the anterior interventricular artery and a great saphenous vein segment, anastomosed to the left internal thoracic artery, revascularizing another branch of the left coronary system, was performed in 23 patients. Blood flow was evaluated by transit time flowmetry in all segments of the composite graft (left internal thoracic artery proximal segment, left internal thoracic artery distal segment and great saphenous vein segment). Measures were performed in baseline condition and after dobutamine-induced stress, without and with non-traumatic temporary clamping of the distal segments of the composite graft. Results: Pharmacological stress resulted in increase of blood flow values in the analyzed segments (P<0.05). Non-traumatic temporary clamping of great saphenous vein segment did not result in statistically significant changes in the flow of left internal thoracic artery distal segment, both in baseline condition and under pharmacological stress. Similarly, non-traumatic temporary clamping of left internal thoracic artery distal segment did not result in statistically significant changes in great saphenous vein segment flow. Conclusion: Composite grafts with left internal thoracic artery and great saphenous vein for revascularization of left coronary system, resulted in blood flow dynamics with physiological adaptability, both at rest and after pharmacological stress, according to demand. Presence of great saphenous vein segment did not alter physiological blood flow dynamics in distal segment of left internal thoracic artery.


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Veia Safena/fisiologia , Velocidade do Fluxo Sanguíneo/fisiologia , Ponte de Artéria Coronária/métodos , Reserva Fracionada de Fluxo Miocárdico/fisiologia , Anastomose de Artéria Torácica Interna-Coronária , Artéria Torácica Interna/fisiologia , Resistência Vascular/fisiologia , Grau de Desobstrução Vascular/fisiologia , Estudos Prospectivos , Enxerto Vascular , Período Intraoperatório
12.
Exp Mol Pathol ; 101(1): 116-23, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27450648

RESUMO

Congenital anomalies are the second highest cause of infant deaths, and, in most cases, diagnosis is a challenge. In this study, we characterize patterns of DNA copy number aberrations in different samples of post-mortem tissues from patients with congenital malformations. Twenty-eight patients undergoing autopsy were cytogenomically evaluated using several methods, specifically, Multiplex Ligation-dependent Probe Amplification (MLPA), microsatellite marker analysis with a MiniFiler kit, FISH, a cytogenomic array technique and bidirectional Sanger sequencing, which were performed on samples of different tissues (brain, heart, liver, skin and diaphragm) preserved in RNAlater, in formaldehyde or by paraffin-embedding. The results identified 13 patients with pathogenic copy number variations (CNVs). Of these, eight presented aneuploidies involving chromosomes 13, 18, 21, X and Y (two presented inter- and intra-tissue mosaicism). In addition, other abnormalities were found, including duplication of the TYMS gene (18p11.32); deletion of the CHL1 gene (3p26.3); deletion of the HIC1 gene (17p13.3); and deletion of the TOM1L2 gene (17p11.2). One patient had a pathogenic missense mutation of g.8535C>G (c.746C>G) in exon 7 of the FGFR3 gene consistent with Thanatophoric Dysplasia type I. Cytogenomic techniques were reliable for the analysis of autopsy material and allowed the identification of inter- and intra-tissue mosaicism and a better understanding of the pathogenesis of congenital malformations.


Assuntos
Anormalidades Congênitas/genética , Citogenética/métodos , Genoma Humano , Mudanças Depois da Morte , Cromossomos Humanos Y/genética , Humanos , Reação em Cadeia da Polimerase Multiplex
13.
Mol Cytogenet ; 8: 43, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26120363

RESUMO

BACKGROUND: Pallister-Killian syndrome (PKS) is a sporadic genetic disorder caused by the presence of a tissue-specific mosaicism for isochromosome 12p - i(12) (p10) and is characterized by facial dysmorphism including coarse facies, upslanting palpebral fissures, bitemporal alopecia, pigmentary skin anomalies, developmental delay, hypotonia and seizures. Although typical clinical features of PKS commonly exist, clinicians often do not raise the possibility of this diagnosis. RESULTS: We reviewed the medical records of 10 patients with confirmed PKS followed in our service (since 1990 to 2015). Age at diagnosis varied from prenatal to 3 years and clinical features were consistent with those described in the literature. In all patients, peripheral blood karyotypes were normal and cytogenomic study was performed in order to confirm the diagnosis. Three of these patients had PKS diagnosis confirmed by buccal smear MLPA. CONCLUSION: An early conclusion from our results demonstrated that MLPA on buccal smears is a good and non-invasive method to detect extra copies of 12p and should be considered as the first exam, before a skin biopsy for a fibroblast karyotype is performed.

15.
Rev Bras Cir Cardiovasc ; 28(2): 167-75, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23939312

RESUMO

OBJECTIVES: The purpose of our study was to establish, with an entirely noninvasive method, transthoracic Doppler echocardiography, criteria for patency of composite left internal thoracic artery grafts when placed on the left anterior descending artery and other branches of the left coronary system. METHODS: The control group comprised 20 patients with single graft and 20 patients with composite graft; all forty having their patency confirmed by coronary angiogram (CA). In this control group, two Doppler echocardiographic variables, diastolic mean velocity-time and integral diastolic peak velocity to systolic peak velocity ratio were recorded. For each variable, established cut-off points were established, using the ROC (Receiver Operator Characteristic) curves, to identify criteria which could differentiate the composite grafts. Only patients with composite grafts were included in the 159-patients study group. The criteria established by the cut-off points in the control group were then applied to detect patency using a diastolic fraction of > 0.5 as the gold standard. The sensitivity, specificity, and positive and negative predictive values of these two criteria were determined. RESULTS: In the control group, cut-off points of 0.71 and 0.09 m were established for the diastolic peak velocity/systolic peak velocity ratio and for diastolic mean velocity-time integral, respectively. In the study group phase, the sensitivity and negative predictive value of the diastolic peak velocity/systolic peak velocity > 0.71 criterion were 36% and 11%, respectively. Diastolic mean velocity-time integral > 0.09 m criterion, were 40% and 10.48%. The specificities and positive predictive values of each criterion were 100%. CONCLUSION: Values reaching the criteria established for each variable indicate high probability of composite graft patency. Lower values have a large proportion of false negatives and are not conclusive as patency criteria.


Assuntos
Ecocardiografia Doppler/normas , Artéria Torácica Interna/diagnóstico por imagem , Enxerto Vascular , Grau de Desobstrução Vascular , Adulto , Idoso , Idoso de 80 Anos ou mais , Velocidade do Fluxo Sanguíneo , Ponte de Artéria Coronária/métodos , Diástole/fisiologia , Feminino , Humanos , Masculino , Artéria Torácica Interna/transplante , Pessoa de Meia-Idade , Curva ROC , Valores de Referência , Reprodutibilidade dos Testes , Estatísticas não Paramétricas , Sístole/fisiologia
16.
Rev. bras. cir. cardiovasc ; 28(2): 167-175, abr.-jun. 2013. ilus, tab
Artigo em Inglês | LILACS | ID: lil-682426

RESUMO

OBJECTIVES: The purpose of our study was to establish, with an entirely noninvasive method, transthoracic Doppler echocardiography, criteria for patency of composite left internal thoracic artery grafts when placed on the left anterior descending artery and other branches of the left coronary system. METHODS: The control group comprised 20 patients with single graft and 20 patients with composite graft; all forty having their patency confirmed by coronary angiogram (CA). In this control group, two Doppler echocardiographic variables, diastolic mean velocity-time and integral diastolic peak velocity to systolic peak velocity ratio were recorded. For each variable, established cut-off points were established, using the ROC (Receiver Operator Characteristic) curves, to identify criteria which could differentiate the composite grafts. Only patients with composite grafts were included in the 159-patients study group. The criteria established by the cut-off points in the control group were then applied to detect patency using a diastolic fraction of > 0.5 as the gold standard. The sensitivity, specificity, and positive and negative predictive values of these two criteria were determined. RESULTS: In the control group, cut-off points of 0.71 and 0.09m were established for the diastolic peak velocity/systolic peak velocity ratio and for diastolic mean velocity-time integral, respectively. In the study group phase, the sensitivity and negative predictive value of the diastolic peak velocity/systolic peak velocity > 0.71 criterion were 36% and 11%, respectively. Diastolic mean velocity-time integral > 0.09m criterion, were 40% and 10.48%. The specificities and positive predictive values of each criterion were 100%. CONCLUSION: Values reaching the criteria established for each variable indicate high probability of composite graft patency. Lower values have a large proportion of false negatives and are not conclusive as patency criteria.


OBJETIVO: O objetivo deste estudo é estabelecer parâmetros preditores de perviedade, avaliados por Dopplerfluxometria, do enxerto composto de artéria torácica interna esquerda, quando revasculariza a artéria interventricular anterior e outro ramo do sistema esquerdo. MÉTODOS: O grupo controle foi formado por 20 pacientes com enxerto simples e 20 pacientes com enxerto, composto cuja perviedade foi confirmada por cineangiocoronariografia. No grupo controle, as variáveis de fluxo relação velocidade pico diastólico/velocidade pico sistólico e integral da velocidade média/tempo na diástole foram registradas. Para cada variável, estabeleceram-se pontos de corte para identificar enxertos compostos, usando-se curvas ROC (receiver operator characteristic). No grupo estudo, foram avaliados 159 pacientes com enxerto composto, determinando-se os dois parâmetros de fluxo. Pontos de cortes estabelecidos no grupo controle foram usados para determinar sensibilidade, especificidade, valores preditivos positivo e negativo de cada variável relacionada à perviedade dos enxertos, tomando-se como referência a fração diastólica > 0,5. RESULTADOS: No grupo controle, os pontos de corte estabelecidos para as variáveis velocidade pico diastólico/velocidade pico sistólico e integral velocidade média/tempo na diástole foram, respectivamente, 0,71 e 0,09m. No grupo estudo, a sensibilidade para a velocidade pico diastólico/velocidade pico sistólico e integral da velocidade média/tempo na diástole, considerando seus pontos de corte, foi de 36,4% e 40%, respectivamente. Os respectivos valores preditivos negativos foram 11% e 10.48%, enquanto especificidade e valor preditivo positivo foram de 100% para os dois parâmetros. CONCLUSÃO: Valores maiores ou iguais aos estabelecidos para cada variável indicam alta probabilidade de perviedade do enxerto composto. Valores inferiores apresentam grande proporção de falsos negativos, não sendo conclusivos quanto à perviedade.


Assuntos
Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ecocardiografia Doppler/normas , Artéria Torácica Interna , Enxerto Vascular , Grau de Desobstrução Vascular , Velocidade do Fluxo Sanguíneo , Ponte de Artéria Coronária/métodos , Diástole/fisiologia , Artéria Torácica Interna/transplante , Valores de Referência , Reprodutibilidade dos Testes , Curva ROC , Estatísticas não Paramétricas , Sístole/fisiologia
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