GABRIELA NUNES LEAL
Projetos de Pesquisa
Unidades Organizacionais
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina - Médico
8 resultados
Resultados de Busca
Agora exibindo 1 - 8 de 8
- Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II(2022) STEPHAN, Bruno de Oliveira; QUAIO, Caio Robledo; SPOLADOR, Gustavo Marquezani; PAULA, Ana Carolina de; CURIATI, Marco Antonio; MARTINS, Ana Maria; LEAL, Gabriela Nunes; TENORIO, Artur; FINZI, Simone; CHIMELO, Flavia Teixeira; MATAS, Carla Gentile; HONJO, Rachel Sayuri; BERTOLA, Debora Romeo; KIM, Chong AeBackground: Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme Iduronate-2-Sulfatase (IDS), leading to progressive accumulation of Glycosaminoglycans (GAGs) in several organs. Over the years, Enzyme Replacement Therapy (ERT) has provided significant benefits for patients, retarding the natural progression of the disease. Results: The authors evaluated 17 patients from the same family with a mild form of MPS type II; the proband had developed acute decompensated heart failure refractory to clinical measurements at 23 years and needed a rather urgent heart transplant; however, he died from surgical complications shortly after the procedure. Nevertheless, subsequent to his tragic death, 16 affected male relatives were detected after biochemical tests identifying the low or absent activity of the IDS enzyme and confirmed by molecular analysis of the IDS gene. Following diagnosis, different options of treatment were chosen: 6 patients started ERT with Elaprase (R) (Idursulfase) soon after, while the other 10 remained without ERT. Eventually, 4 patients in the latter group began ERT with Hunterase (R) (Idursulfase Beta). None presented adverse effects to either form of the enzyme. Among the 6 individuals without any ERT, two died of natural causes, after reaching 70 years. Despite the variable phenotype within the same family (mainly heart dysfunctions and carpal tunnel syndrome), all 14 remaining patients were alive with an independent lifestyle. Conclusion: Here, the authors report the variable progress of the disease with and without ERT in a large Brazilian family with a slowly progressive form of MPS II, harboring the same missense variant in the IDS gene.
- Heart function in juvenile idiopathic arthritis patients: A biventricular two-dimensional speckle-tracking echocardiography study(2022) LIANZA, Alessandro C.; LEAL, Gabriela N.; AIKAWA, Nadia E.; KOZU, Katia T.; DINIZ, Maria De Fatima R.; SAWAMURA, Karen S. S.; MENEZES, Carolina R. B.; MARTINS, Camila Lino; CAMPOS, Lucia M.; ELIAS, Adriana M.; SILVA, Clovis A.Objectives We evaluated cardiac function in juvenile idiopathic arthritis (JIA) patients by 2D speckle-tracking echocardiography (2DSTE) and to assess possible associations with clinical, laboratorial, and treatment data. Methods A group of 42 JIA patients and 42 healthy controls were evaluated using both conventional echocardiography and 2DSTE. JIA patients underwent clinical and laboratory assessment. Results Conventional echocardiography data demonstrated normal left ventricular (LV) ejection fraction in both groups (71 vs. 71%; p = .69). 2DSTE analysis demonstrated that JIA patients presented significantly lower LV global systolic longitudinal strain (LVGLS) (-18.76 vs. -22%; p < .0001), LV systolic strain rate (LVSSR) (1.06 vs. 1.32 s(-1); p < .0001), LV diastolic strain rate (LVDSR) (1.58 vs. 1.8 s(-1); p < .0137), right ventricular global systolic strain (RVGLS) (-24.1% vs. -27.7%; p = .0002), and right ventricular systolic strain rate (RVSSR) (1.4 vs. 1.8 s(-1); p = .0035). JIA patients under biological agents presented higher LVGLS (p = .02) and RVLS (p = .01). We also detected an association between LVGLS and C-reactive protein [CRP; -20% in normal CRP (10/42) vs. -18% in elevated CRP patients (32/42), p = .03]. Conclusions JIA patients present different echocardiographic status from healthy patients. Moreover, our data suggest that JIA patients under biological agents present association with better cardiac function as shown by strain analysis.
bookPart Ecocardiografia funcional em neonatologia(2022) LEAL, Gabriela Nunes; MENEZES, Carolina da Rocha Brito- In-depth cardiovascular and pulmonary assessments in children with multisystem inflammatory syndrome after SARS-CoV-2 infection: A case series study(2022) ASTLEY, Camilla; PEREIRA, Maria Fernanda Badue; LIMA, Marcos Santos; BUCHPIGUEL, Carlos Alberto; CARNEIRO, Camila G.; SAPIENZA, Marcelo Tatit; LEAL, Gabriela Nunes; PRADO, Danilo Marcelo Leite do; PECANHA, Tiago; SIECZKOWSKA, Sofia Mendes; MATSUO, Olivia Mari; LINDOSO, Livia; MARQUES, Heloisa Helena; SILVA, Clovis Artur; GUALANO, BrunoWe assessed PET-CT myocardial blood flow (MBF) using N-13 ammonia, brachial flow-mediated dilation, and cardiopulmonary exercise test in five post-discarged MIS-C survivors. None of the patients (median age: 9, range: 7-18 years; 3 females; 2 males) had preexisting pediatric chronic conditions. At the follow-up visit, two patients exhibited severe perfusion defect developed in the left ventricular cavity, suggesting extensive myocardial ischemia (MBF <2.0) and one patient showed persistent mild pericardial effusion. Others two patients demonstrated endothelial dysfunction. Nevertheless, all patients had lower predicted values in the VO2peak, VO2VAT, OUES, and O-2 Pulse (range: 35.2%-64.5%; 15.6%-38.2%; 1.0-1.3 L/min; 4-7 ml/beat), respectively. Our d suggested that previously health MIS-C patients had impaired MBF, endothelial dysfunction and lower cardiopulmonary capacity at follow-up analysis. Multidisciplinary further investigations should be conducted to reinforce these findings.
- Segmental cardiac strain assessment by two-dimensional speckle-tracking echocardiography in surviving MIS-c patients: Correlations with myocardial flow reserve (MFR) by 13 N-ammonia PET-CT(2022) LEAL, Gabriela Nunes; ASTLEY, Camila; LIMA, Marcos Santos; DINIZ, Maria de Fatima Rodrigues; LIANZA, Alessandro Cavalcanti; SAWAMURA, Karen Saori Shiraishi; MENEZES, Carolina Rocha Brito; SILVA, Camila Lino Martins Rodrigues da; BAIN, Vera; IMADA, Rodrigo; CHALELA, William; PEREIRA, Maria Fernanda Badue; MARQUES, Heloisa Helena de Sousa; BUCHPIGUEL, Carlos Alberto; GUALANO, Bruno; SILVA, Clovis ArturBackground Multisystem inflammatory syndrome in children (MIS-c) is associated with severe cardiovascular impairment and eventually death. Pathophysiological mechanisms involved in myocardial injury were scarcely investigated, and cardiovascular outcomes are uncertain. Autopsy studies suggested that microvascular dysfunction may be relevant to LV impairment. Objective We aimed to evaluate segmental LV longitudinal strain by 2DST echocardiography and myocardial flow reserve (MFR) by 13 N-ammonia PET-CT, in six surviving MIS-c patients. Methods Each patient generated 34 LV segments for combined 2DST and MRF analysis. MFR was considered abnormal when <2, borderline when between 2 and 2.5 and normal when >2.5. Results From July 2020 to February 2021, six patients were admitted with MIS-c: three males, aged 9.3 (6.6-15.7) years. Time from admission to the follow-up visit was 6.05 (2-10.3) months. Although all patients were asymptomatic and LV EF was >= 55%, 43/102 (42.1%) LV segments showed MFR r = .36, p = .03 for basal segments; r = .41, p = .022 for mid segments; r = .42, p = .021 for apical segments. Median peak systolic longitudinal strain was different among MRF categories: 18% (12%-24%) for abnormal, 18.5% (11%-35%) for borderline, and 21% (12%-32%) for normal MFR (p = .006). Conclusion We provided preliminary evidence that surviving MIS-c patients may present subclinical impairment of myocardial microcirculation. Segmental cardiac strain assessment 2DST seems useful for MIS-c cardiovascular follow-up, given its good correlation with 13 N-ammonia PET-CT derived MFR.
- Persistent symptoms and decreased health-related quality of life after symptomatic pediatric COVID-19: A prospective study in a Latin American tertiary hospital (vol 76, e3511, 2021)(2022) FINK, Thais T.; MARQUES, Heloisa H. S.; GUALANO, Bruno; LINDOSO, Livia; BAIN, Vera; ASTLEY, Camilla; MARTINS, Fernanda; MATHEUS, Denise; MATSUO, Olivia M.; SUGUITA, Priscila; TRINDADE, Vitor; PAULA, Camila S. Y.; FARHAT, Sylvia C. L.; PALMEIRA, Patricia; LEAL, Gabriela N.; SUZUKI, Lisa; ODONE FILHO, Vicente; CARNEIRO-SAMPAIO, Magda; DUARTE, Alberto Jose S.; ANTONANGELO, Leila; BATISTTELLA, Linamara R.; POLANCZYK, Guilherme V.; PEREIRA, Rosa Maria R.; CARVALHO, Carlos Roberto R.; BUCHPIGUEL, Carlos A.; LATRONICO, Ana Claudia; SEELAENDER, Marilia; SILVA, Clovis Artur; PEREIRA, Maria Fernanda B.
- Electrocardiographic Evaluation of Normal Newborns in the First Week of Life - Observational Study(2022) PIMENTA, Marina de Souza; SAMESIMA, Nelson; PASTORE, Carlos Alberto; KREBS, Vera Lucia Jornada; LEAL, Gabriela Nunes; CARVALHO, Werther Brunow deBackground: The neonatal period is marked by major changes in the cardiovascular system, especially in the first week of life. Unlike the adult population, studies on electrocardiogram (ECG) data in the neonatal period are scarce. This is the first study to describe electrocardiographic changes in a cohort of newborns with normal echocardiograms. Objectives: To analyze the electrocardiographic patterns of a population of full-term NB, without any cardiac morphological or functional anomalies, and compare the results with the literature. Methods: In this observational study, echocardiograms and ECG results from 94 newborns divided in three age groups (up to 24 hours, between 25 and 72 hours, and between 73 and 168 hours of life) were evaluated and compared with those reported by Davignon et al. A p-value <0.05 was considered statistically significant. Results: There were significant differences in T-wave direction in leads V1 (p= 0.04), V2 (p= 0.02), V3 (p= 0.008) and V4 (p= 0.005) between the three age groups. There were differences between our findings and the current literature in most of the parameters. Conclusion: Term newborns within 24 hours of life showed significantly more positive T waves than older ones. Many differences from the Davignon???s ECG parameters were found, particularly in the P, Q, R, S amplitudes, QRS duration, R/S and R+S. These findings indicate that more studies are needed for a definitive interpretation of the ECG in newborns.