• JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
 
  Bookmark and Share
 
 
Doctoral Thesis
DOI
10.11606/T.5.2018.tde-15082018-092726
Document
Author
Full name
Francisca Alexandra Gavilanes Oleas
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2018
Supervisor
Committee
Souza, Rogério de (President)
Hoette, Susana
Hovnanian, Andre Luiz Dresler
Jardim, Carlos Viana Poyares
Title in Portuguese
Características genéticas de pacientes com hipertensão arterial pulmonar associada à  esquistossomose 
Keywords in Portuguese
Esquistossomose mansônica
Genética
Hipertensão arterial pulmonar idiopática
Sobrevida (saúde pública)
Abstract in Portuguese
Introdução: Vários genes, particularmente os envolvidos na via de transcrição Transforming Growth Factor beta, estão claramente associados ao risco de desenvolvimento de hipertensão arterial pulmonar. Entretanto, pouco ou quase nada se sabe sobre a existência de fatores genéticos que possam estar associados a uma das formas mais prevalentes de hipertensão arterial pulmonar no mundo, a hipertensão arterial pulmonar associada a esquistossomose (HAP-Sch). O objetivo deste estudo foi avaliar a associação dos genes já descritos na hipertensão arterial pulmonar idiopática (HAPI) com a HAP-Sch. Método: Estudo transversal, comparando amostras de pacientes seguidos no ambulatório de Circulação Pulmonar no Instituto do Coração do HCFMUSP, com diagnóstico de HAP-Sch ou HAPI. Foram avaliadas as características genéticas nestes grupos quanto à presença de variantes patogênicas dos genes:BMPR2, ACVRL1, KCNK3, KCNK5, CAV-1, CBLN2, ENG, andSMAD9. Resultados: Foram incluídos 69 pacientes com HAP-Sch e 74 pacientes com HAPI. O grupo HAP-Sch apresentou idade mais avançada (52.1 ± 11.8 vs 41.5 ± 15.0; p = < 0,001) e débito cardíaco mais preservado ao diagnóstico (4.7 ± 1.9 vs 4.0 ± 1.4 p = 0.019). Cerca de 24% dos pacientes com HAPI apresentaram resposta aguda durante o teste de vasorreatividade, enquanto nenhum paciente com HAP-Sch apresentou resposta (p =< 0.001). Pacientes com HAP-Sch apresentaram 7% de variantes patogênicas, comparado com11% dos HAPI(p=0,782). Em ambos os grupos, pacientes portadores de variantes patogênicas possuíam características clínicas e hemodinâmicas semelhantes aos demais pacientes. No grupo HAP-Sch, a sobrevida dos portadores de variantes patogênicas foi significativamente menor (p=0.035). Conclusão: A prevalência de variantes patogênicas na HAP-Sch é semelhante à encontrada na HAPI e, da mesma forma, sua presença está associada a pior prognóstico
Title in English
Genetic characteristics of patients with pulmonary arterial hypertension associated with schistosomiasis
Keywords in English
Genetics
Idiopathic pulmonary arterial hypertension
Schistosomiasis mansoni
Survival
Abstract in English
Background: Several genes, mainly those involved with the Transforming Growth Factor ? transcription pathway, are well-defined as risk factors for developing pulmonary arterial hypertension. Nevertheless, little is known about the existence of a genetic background associated with one of the most prevalent forms of pulmonary arterial hypertension worldwide, which is schistosomiasis associated pulmonary arterial hypertension (Sch-PAH). The aim of this study was to evaluate the association of genes already described in idiopathic pulmonary arterial hypertension (IPAH) with Sch-PAH. Method: A cross-sectional study comparing samples from patients followed at the Pulmonary Circulation clinic at the Heart Institute of HCFMUSP, diagnosed as Sch-PAH or IPAH. Genetic characteristics in these groups were evaluated for the presence of pathogenic variants of the genes: BMPR2, ACVRL1, KCNK3, KCNK5, CAV-1, CBLN2, ENG, and SMAD9.Results: A total of 69 patients with Sch-PAH and 74 patients with IPAH were included. The Sch-PAH group presented older age (52.1 ± 11.8 vs 41.5 ± 15.0, p =< 0.001) and higher cardiac output at diagnosis (4.7 ± 1.9 vs 4.0 ± 1.4 p = 0.019). About 24% of patients with IPAH presented acute response during the vasoreactivity test, whereas no Sch-PAH patient presented response (p = < 0.001). Patients with PAH-Sch had 7% prevalence of pathogenic variants, compared to 11% in IPAH (p = 0.782). In both groups, patients with pathogenic variants had clinical and hemodynamic characteristics similar to the other patients. In the Sch-PAH group, the survival of patients with pathogenic variants was significantly lower (p = 0.035). Conclusion: The prevalence of pathogenic variants in Sch-PAH is similar to that found in IPAH and, likewise, its presence is associated with worse prognosis
 
WARNING - Viewing this document is conditioned on your acceptance of the following terms of use:
This document is only for private use for research and teaching activities. Reproduction for commercial use is forbidden. This rights cover the whole data about this document as well as its contents. Any uses or copies of this document in whole or in part must include the author's name.
Publishing Date
2018-08-15
 
WARNING: Learn what derived works are clicking here.
All rights of the thesis/dissertation are from the authors
CeTI-SC/STI
Digital Library of Theses and Dissertations of USP. Copyright © 2001-2021. All rights reserved.