ANA PAULA MARTE CHACRA
Índice h a partir de 2011
9
Projetos de Pesquisa
Unidades Organizacionais
Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina - Médico
12 resultados
Resultados de Busca
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conferenceObject PREDICTORS OF CORONARY ARTERY CALCIFICATION INCIDENCE IN SEVERE HYPERCHOLESTEROLEMIA(2023) MARTE, Ana; MINAME, Marcio Hiroshi; PARDI, Estevao Magalhaes; GANEM, Lucas; MIZUTA, Marjorie Hayashida; ROCHA, Viviane Zorzanelli; PEREIRA, Alexandre Costa; KRIEGER, Jose Eduardo; SANTOS, Raul- Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program(2022) TADA, Mauricio Teruo; ROCHA, Viviane Zorzanelli; LIMA, Isabella Ramos; OLIVEIRA, Theo Gremen Mimary; CHACRA, Ana Paula; MINAME, Marcio Hiroshi; NUNES, Valeria Sutti; NAKANDAKARE, Edna Regina; CASTELO, Maria Helane Costa Gurgel; JANNES, Cinthia Elim; SANTOS, Raul D.; KRIEGER, Jose Eduardo; PEREIRA, Alexandre CostaBackground: Sitosterolemia is a rare autosomal recessive disorder caused by homozygous or compound heterozygous variants in ABCG5/ABCG8. The disease is characterized by increased plasma plant sterols. Small case series suggest that patients with sitosterolemia have wide phenotypic heterogeneity with great variability on either plasma cholesterol levels or development of atherosclerotic cardiovascular disease. The present study aims to characterize the prevalence and clinical features of sitosterolemia participating in a familial hypercholesterolemia genetic cascade screening program. Methods: From 443 familial hypercholesterolemia index cases, 260 were negative for familial hypercholesterolemia genes and were sequenced for the ABCG5/8 genes. Clinical and laboratory characteristics of affected individuals were determined. Results: Eight (3.1%) index cases were found to be homozygous or compound heterozygous variant for ABCG5/ABCG8 genes, confirming the genetic diagnosis of sitosterolemia. Screening their relatives led to the identification of 6 additional confirmed sitosterolemia cases (3 homozygous and 3 compound heterozygous variant) and 18 carriers (heterozygous). The mean age of identified sitosterolemia cases (n=14) was 37.2 +/- 19.8 years, 50% were females, and 78.6% (all adults) presented either clinical or subclinical atherosclerotic cardiovascular disease. As expected, affected individuals presented elevated plasma plant sterol levels (mean beta-Sitosterol and campesterol, respectively, 160.3 +/- 107.1 and 32.0 +/- 19.6 mu g/mL) and the highest plasma LDL (low-density lipoprotein)-cholesterol was 269.0 +/- 120.0 mg/dL (range: 122-521 mg/dL). LDL-cholesterol mean reduction with therapy among cases was 65%. Eighty-three percent (83%) of identified sitosterolemia patients presented hematologic abnormalities. Conclusions: Testing genes associated with sitosterolemia in the molecular routine workflow of a familial hypercholesterolemia cascade screening program allowed the precise diagnosis of sitosterolemia in a substantial number of patients with varying LDL-C levels and high incidence of early atherosclerotic cardiovascular disease and hematologic abnormalities.
- Achilles tendon xanthomas are associated with the presence and burden of subclinical coronary atherosclerosis in heterozygous familial hypercholesterolemia: A pilot study(2017) MANGILI, Leonardo C.; MINAME, Marcio H.; SILVA, Pamela R. S.; BITTENCOURT, Marcio S.; ROCHA, Viviane Z.; MANGILI, Otavio C.; SALGADO FILHO, Wilson; CHACRA, Ana P.; JANNES, Cinthia E.; PEREIRA, Alexandre C.; SANTOS, Raul D.Background and aims: Achilles tendon xanthomas (ATX) are a sign of long-term exposure to high blood cholesterol in familial hypercholesterolemia (FH) patients, which have been associated with cardiovascular disease. We evaluated the ATX association with the presence and extent of subclinical coronary atherosclerosis in heterozygous FH patients. Methods: 102 FH patients diagnosed by US-MEDPED criteria (67% with genetically proven FH), with median LDL-C 279 mg/dL (interquartile range: 240; 313), asymptomatic for cardiovascular disease, underwent computed tomography angiography and coronary artery calcium (CAC) quantification. Subclinical coronary atherosclerosis was quantified by CAC, segment-stenosis (SSS) and segment-involvement (SIS) scores. Adjusted Poisson regression was used to assess the association of ATX with subclinical atherosclerosis burden as continuous variables. Results: Patients with ATX (n = 21, 21%) had higher LDL-C and lipoprotein(a) [Lp(a)] concentrations as well as greater CAC scores, SIS and SSS (p < 0.05). After adjusting for age, sex, smoking, hypertension, previous statin use, HDL-C, LDL-C and Lp(a) concentrations, there was an independent positive association of ATX presence with CAC scores (beta = 1.017, p < 0.001), SSS (beta = 0.809, p < 0.001) and SIS (beta = 0.640, p < 0.001). Conclusions: ATX are independently associated with the extension of subclinical coronary atherosclerosis quantified by tomographic scores in FH patients.
conferenceObject RAPID PROGRESSION OF CORONARY ATHEROSCLEROSIS IN A PATIENT WITH AUTOSSOMAL RECESSIVE HYPERCHOLESTEROLEMIA(2023) MIZUTA, Marjorie Hayashida; AMORIM, Matheus; ROCHA, Viviane Zorzanelli; MINAME, Marcio Hiroshi; JANNES, Cinthia Elim; PEREIRA, Alexandre Costa; KRIEGER, Jose Eduardo; SANTOS, Raul; CHACRA, Ana Paula MarteconferenceObject Coronary artery calcification is an independent predictor of cardiovascular events in familial hypercholesterolemia(2017) MINAME, M. H.; SILVA, P. R. S.; ALVES, R. L. M.; MORAES, S. R.; BITTENCOURT, M. S.; ROCHA, V. Z.; MARTE, A. P.; SALGADO, W.; JANNES, C. E.; PEREIRA, A. C.; SANTOS, R. D.- Atualização da Diretriz Brasileira de Dislipidemias e Prevenção da Aterosclerose – 2017(2017) FALUDI, A. A.; IZAR, M. C. O.; SARAIVA, J. F. K.; CHACRA, A. P. M.; BIANCO, H. T.; AFIUNE NETO, A.; BERTOLAMI, A.; PEREIRA, A. C.; LOTTENBERG, A. M.; SPOSITO, A. C.; CHAGAS, A. C. P.; CASELLA-FILHO, A.; SIMAO, A. F.; ALENCAR FILHO, A. C.; CARAMELLI, B.; MAGALHAES, C. C.; MAGNONI, D.; NEGRAO, C. E.; FERREIRA, C. E. S.; SCHERR, C.; FEIO, C. M. A.; KOVACS, C.; ARAUJO, D. B.; CALDERARO, D.; GUALANDRO, D. M.; MELLO JUNIOR, E. P.; ALEXANDRE, E. R. G.; SATO, I. E.; MORIGUCHI, E. H.; RACHED, F. H.; SANTOS, F. C.; CESENA, F. H. Y.; FONSECA, F. A. H.; FONSECA, H. A. R.; XAVIER, H. T.; PIMENTEL, I. C.; GIULIANO, I. C. B.; ISSA, J. S.; DIAMENT, J.; PESQUERO, J. B.; SANTOS, J. E.; FARIA NETO, J. R.; MELO FILHO, J. X.; KATO, J. T.; TORRES, K. P.; BERTOLAMI, M. C.; V, M. H. Assad; MINAME, M. H.; SCARTEZINI, M.; FORTI, N. A.; COELHO, O. R.; MARANHAO, R. C.; SANTOS FILHO, R. D.; ALVES, R. J.; CASSANI, R. L.; BETTI, R. T. B.; CARVALHO, T.; MARTINEZ, T. L. R.; GIRALDEZ, V. Z. R.; SALGADO FILHO, W.
conferenceObject Familial Hypercholesterolemia in Children and Safety of Early Lipid-Lowering Treatment(2017) BELLUNGHI, Maria Sol; MINAME, Marcio; JANNES, Cinthia E.; SILVA, Pamela R.; PEREIRA, Alexandre; CHACRA, Ana Paula; SALGADO, Wilson; SANTOS, Raul D.; ROCHA, Viviane Z.conferenceObject EFFICACY AND SAFETY OF EARLY LIPID LOWERING TREATMENT IN CHILDREN WITH FAMILIAL HYPERCHOLESTEROLEMIA(2022) JULIANI, Fabiana Cordeiro; MINAME, Marcio Hiroshi; CASTELO, Maria Helane Costa Gurgel; CHACRA, Ana Paula Marte; SALGADO, Wilson; COUTINHO, Elaine dos Reis; JANNES, Cinthia Elim; PEREIRA, Alexandre; KRIEGER, Jose Eduardo; MARANHAO, Raul Cavalcante; SANTOS, Raul; ROCHA, Viviane Zorzanelli- Evaluation of clinical and laboratory parameters used in the identification of index cases for genetic screening of familial hypercholesterolemia in Brazil(2017) SILVA, Pamela R. S.; JANNES, Cinthia E.; OLIVEIRA, Theo G. M.; MINAME, Marcio H.; ROCHA, Viviane Z.; CHACRA, Ana Paula; GURGEL, Maria Helane C.; MONTENEGRO, Renan M.; RODRIGUES SOBRINHO, Carlos Roberto M.; MOREIRA, Annie Seixas Bello; ASSAD, Marcelo H. V.; PINTO, Marina R. C.; TADA, Mauricio Teruo; SANTOS, Raul D.; PEREIRA, Alexandre C.; KRIEGER, Jose E.Background and aims: There is controversy on the accuracy of different diagnostic criteria for familial hypercholesterolemia (FH). The aim of this study is to assess the performance of different clinical criteria used to identify individuals for FH genetic cascade screening in Brazil. Methods: All index cases (IC) registered in the Hipercol Brasil program between 2011 and 2016 were analyzed. Inclusion criteria were age > 18 years and elevated LDL-cholesterol (LDL-C) levels, with a conclusive result in the genetic test, whether positive or negative. Initially, we tested the multivariable association between clinical and laboratory markers and the presence of an FH causing mutation. Then, we analyzed sensitivity, specificity, positive and negative predictive values for the LDL-C quartile distribution, LDL-C as a continuous variable, as well as the performance measures for the Dutch Lipid Clinic Network (DLCN) score to identify a mutation. Results: Overall, 753 ICs were included and an FH causing mutation was found in 34% (n = 257) of the subjects. After multivariable analysis, LDL-C as a continuous variable, tendon xanthomas and corneal arcus were independently associated with the presence of FH mutations. LDL-C values >= 230 mg/dL (5.9 mmol/L) had the best tradeoff between sensitivity and specificity to diagnose a mutation. The DLCN score presented a better performance than LDL-C to identify a mutation, area under the ROC curve were 0.744 (95% CI: 0.704-0.784) and 0.730 (95% CI: 0.687-0.774), respectively, p = 0.014. Conclusions: In our population, LDL >= 230 mg/dL is a feasible criterion to indicate ICs to genetic testing. (C) 2017 Published by Elsevier Ireland Ltd.
- Extensive Xanthomas and Severe Subclinical Atherosclerosis in Homozygous Familial Hypercholesterolemia(2013) ROCHA, Viviane Z.; CHACRA, Ana P. M.; SALGADO, Wilson; MINAME, Marcio; TUROLLA, Luciana; GAGLIARDI, Ana C. M.; RIBEIRO, Expedito E.; ROCHA, Ricardo P. S.; AVILA, Luiz F. R.; PEREIRA, Alexandre; NAKANDAKARE, Edna R.; SANTOS, Raul D.