GABRIELA NUNES LEAL
Projetos de Pesquisa
Unidades Organizacionais
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina - Médico
18 resultados
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- 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.
- Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation(2020) HONJO, Rachel Sayuri; VACA, Evelyn Cristina Nunez; LEAL, Gabriela Nunes; ABELLAN, Deipara Monteiro; IKARI, Nana Miura; JATENE, Marcelo Biscegli; MARTINS, Ana Maria; KIM, Chong AeBackground The Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (OMIM 253200) is an autosomal recessive lysosomal disorder, caused by the deficiency of the enzyme N-acetylgalactosamine 4-sulfatase (also known as arylsulfatase B) due to mutations of the ARSB gene. Cardiologic features are well recognized, and are always present in MPS VI patients. Generally, the onset and the progression of the cardiologic symptoms are insidious, and just a few patients have developed a rapidly progressive disease. Cardiac involvement in MPS VI is a common and progressive feature. For MPS patients, cardiac evaluations are recommended every 1 to 2 years, including blood pressure measurement, electrocardiography and echocardiography. However, congestive heart failure and valvular surgical repair are not frequently seen, and if so, they are performed in adults. Here we report on an atypical MPS VI case with ascites fetalis and a rapidly progressive cardiac disease. Case presentation A 6-month-old Brazilian male, only child of a Brazilian healthy non-consanguineous couple. During pregnancy, second trimester ultrasonography observed fetal ascites and bilateral hydrocele. Physical exam at 6 months-old revealed a typical gibbus deformity and MPS was suspected. Biochemical investigation revealed a diagnosis of MPS type VI, confirmed by molecular test. Baseline echocardiogram revealed discrete tricuspid regurgitation and a thickened mitral valve with posterior leaflet prolapse, causing moderate to severe regurgitation. The patient evolved with mitral insufficiency and congestive heart failure, eventually requiring surgical repair by the first year of age. Conclusions We report the first case of MPS VI whose manifestations started in the prenatal period with fetal ascites, with severe cardiac valvular disease that eventually required early surgical repair. Moreover, in MPS with neonatal presentation, including fetal hydrops, besides MPS I, IVA and VII, clinicians should include MPS VI in the differential diagnosis.
- Contraception for adolescents with chronic rheumatic diseases(2017) LOURENCO, Benito; KOZU, Katia T.; LEAL, Gabriela N.; SILVA, Marco F.; FERNANDES, Elisabeth G. C.; FRANCA, Camila M. P.; SOUZA, Fernando H. C.; SILVA, Clovis A.Contraception is an important issue and should be a matter of concern in every medical visit of adolescent and young patients with chronic rheumatic diseases. This narrative review discusses contraception methods in adolescents with juvenile systemic lupus erythematosus (JSLE), antiphospholipid syndrome (APS), juvenile idiopathic arthritis (JIA) and juvenile dermatomyositis (JDM). Barrier methods are safe and their use should be encouraged for all adolescents with chronic rheumatic diseases. Combined oral contraceptives (COC) are strictly prohibited for JSLE and APS patients with positive antiphospholipid antibodies. Reversible long-acting contraception can be encouraged and offered routinely to the JSLE adolescent patient and other rheumatic diseases. Progestin-only pills are safe in the majority of rheumatic diseases, although the main concern related to its use by adolescents is poor adherence due to menstrual irregularity. Depot medroxyprogesterone acetate injections every three months is a highly effective contraception strategy, although its long-term use is associated with decreased bone mineral density. COC or other combined hormonal contraceptive may be options for JIA and JDM patients. Oral levonorgestrel should be considered as an emergency contraception method for all adolescents with chronic rheumatic diseases, including patients with contraindication to COC. (C) 2016 Published by Elsevier Editora Ltda.
- Position Statement on Indications for Echocardiography in Fetal and Pediatric Cardiology and Congenital Heart Disease of the Adult-2020(2020) MORHY, Samira Saady; BARBERATO, Silvio Henrique; LIANZA, Alessandro Cavalcanti; SOARES, Andressa Mussi; LEAL, Gabriela Nunes; RIVERA, Ivan Romero; BARBERATO, Marcia Ferreira Alves; GUERRA, Vitor; RIBEIRO, Zilma Vercosa de Sa; PIGNATELLI, Ricardo; ROCHITTE, Carlos Eduardo; VIEIRA, Marcelo Luiz Campos
- Home-Based Exercise Training in the Recovery of Multisystem Inflammatory Syndrome in Children: A Case Series Study(2023) ASTLEY, Camilla; LEAL, Gabriela Nunes; GIL, Saulo; SUGUITA, Priscila; FINK, Thais; BAIN, Vera; PEREIRA, Maria Fernanda Badue; MARQUES, Heloisa Helena; SIECZKOWSKA, Sofia; PRADO, Danilo; LIMA, Marcos Santos; CARNEIRO, Camila G.; BUCHPIGUEL, Carlos Alberto; SILVA, Clovis Artur; GUALANO, BrunoObjective: To assess the potential therapeutic role of exercise on health-related quality of life, assessed by the Pediatric Outcomes Data Collection Instrument (PODCI), coronary flow reserve (CFR), cardiac function, cardiorespiratory fitness, and inflammatory and cardiac blood markers in multisystemic inflammatory syndrome in children (MIS-C) patients. Methods: This is a case series study of a 12-wk, home-based exercise intervention in children and adolescents after MIS-C diagnosis. From 16 MIS-C patients followed at our clinic, 6 were included (age: 7-16 years; 3 females). Three of them withdrew before the intervention and served as controls. The primary outcome was health-related quality of life, assessed PODCI. Secondary outcomes were CFR assessed by 13N-ammonia PET-CT imaging, cardiac function by echocardiography, cardiorespiratory fitness, and inflammatory and cardiac blood markers. Results: In general, patients showed poor health-related quality of life, which seemed to be improved with exercise. Additionally, exercised patients showed improvements in coronary flow reserve, cardiac function, and aerobic conditioning. Non-exercised patients exhibited a slower pattern of recovery, particularly in relation to health-related quality of life and aerobic conditioning. Conclusions: Our results suggest that exercise may play a therapeutic role in the treatment of post-discharge MIS-C patients. As our design does not allow inferring causality, randomized controlled trials are necessary to confirm these preliminary findings.
- 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.
- Severe clinical spectrum with high mortality in pediatric patients with COVID-19 and multisystem inflammatory syndrome(2020) PEREIRA, Maria Fernanda Badue; LITVINOV, Nadia; FARHAT, Sylvia Costa Lima; EISENCRAFT, Adriana Pasmanik; GIBELLI, Maria Augusta Bento Cicaroni; CARVALHO, Werther Brunow de; FERNANDES, Vinicius Rodrigues; FINK, Thais de Toledo; FRAMIL, Juliana Valeria de Souza; GALLETI, Karine Vusberg; FANTE, Alice Lima; FONSECA, Maria Fernanda Mota; WATANABE, Andreia; PAULA, Camila Sanson Yoshino de; PALANDRI, Giovanna Gavros; LEAL, Gabriela Nunes; DINIZ, Maria de Fatima Rodrigues; PINHO, Joao Renato Rebello; SILVA, Clovis Artur; MARQUES, Heloisa Helena de SousaOBJECTIVES: To assess the outcomes of pediatric patients with laboratory-confirmed coronavirus disease (COVID-19) with or without multisystem inflammatory syndrome in children (MIS-C). METHODS: This cross-sectional study included 471 samples collected from 371 patients (age<18 years) suspected of having severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. The study group comprised 66/371 (18%) laboratory-confirmed pediatric COVID-19 patients: 61 (92.5%) patients tested positive on real-time reverse transcription-polymerase chain reaction tests for SARS-CoV-2, and 5 (7.5%) patients tested positive on serological tests. MIS-C was diagnosed according to the criteria of the Center for Disease Control. RESULTS: MIS-C was diagnosed in 6/66 (9%) patients. The frequencies of diarrhea, vomiting, and/or abdominal pain (67% vs. 22%, p=0.034); pediatric SARS (67% vs. 13%, p=0.008); hypoxemia (83% vs. 23%, p=0.006); and arterial hypotension (50% vs. 3%, p=0.004) were significantly higher in patients with MIS-C than in those without MIS-C. The frequencies of C-reactive protein levels >50 mg/L (83% vs. 25%, p=0.008) and D-dimer levels >1000 ng/mL (100% vs. 40%, p=0.007) and the median D-dimer, troponin T, and ferritin levels (p < 0.05) were significantly higher in patients with MIS-C. The frequencies of pediatric intensive care unit admission (100% vs. 60%, p=0.003), mechanical ventilation (83% vs. 7%, p < 0.001), vasoactive agent use (83% vs. 3%, p <0.001), shock (83% vs. 5%, p<0.001), cardiac abnormalities (100% vs. 2%, p <0.001), and death (67% vs. 3%, p < 0.001) were also significantly higher in patients with MIS-C. Similarly, the frequencies of oxygen therapy (100% vs. 33%, p=0.003), intravenous immunoglobulin therapy (67% vs. 2%, p < 0.001), aspirin therapy (50% vs. 0%, p < 0.001), and current acute renal replacement therapy (50% vs. 2%, p=0.002) were also significantly higher in patients with MIS-C. Logistic regression analysis showed that the presence of MIS-C was significantly associated with gastrointestinal manifestations [odds ratio (OR)=10.98; 95%CI (95% confidence interval)=1.20-100.86; p=0.034] and hypoxemia [OR=16.85; 95%CI=1.34-211.80; p=0.029]. Further univariate analysis showed a positive association between MIS-C and death [OR=58.00; 95%CI=6.39526.79; p <0 .0001]. CONCLUSIONS: Pediatric patients with laboratory-confirmed COVID-19 with MIS-C had a severe clinical spectrum with a high mortality rate. Our study emphasizes the importance of investigating MIS-C in pediatric patients with COVID-19 presenting with gastrointestinal involvement and hypoxemia.
- The Heart of Pediatric Patients with COVID-19: New Insights from a Systematic Echocardiographic Study in a Tertiary Hospital in Brazil(2021) DINIZ, Maria de Fatima Rodrigues; CARDOSO, Maira Freire; SAWAMURA, Karen Saori Shiraishi; MENEZES, Carolina Rocha Brito; LIANZA, Alessandro Cavalcanti; PEREIRA, Maria Fernanda Badue; LITVINOV, Nadia; FERRANTI, Juliana Ferreira; FORSAIT, Silvana; WATANABE, Andreia; FARHAT, Sylvia Costa Lima; AIKAWA, Nadia Emi; CAMPOS, Lucia Maria Arruda; DELGADO, Artur Figueiredo; CARNEIRO-SAMPAIO, Magda; CARVALHO, Werther Brunow de; SILVA, Clovis Artur; LEAL, Gabriela NunesBackground: COVID-19 pandemic represents a huge burden to the health system in the world. Although pediatric COVID-19 patients have been relatively spared compared with adults, recent reports showed an increasing number of critically ill patients with multisystemic inflammatory syndrome in children (MIS-c), with marked cardiovascular impairment. Nevertheless, little is known about the relationship between cardiac abnormalities and inflammatory and coagulation biomarkers. Objectives: to investigate echocardiographic abnormalities in pediatric patients with COVID-19 admitted to tertiary hospital. Methods: this was a retrospective longitudinal study, based on the review of medical records and echocardiograms of patients (0-19 years) admitted to a tertiary hospital between March 30 and June 30, 2020. For statistical analysis, the significance level was set at 5% (p < 0.05). Results: Forty-eight patients were enrolled, 73% with preexisting diseases, 20 (41.7%) with MIS-c. Median age was 7.5 (0-18.6) years; 27 (56.2%) were male. Median duration of hospitalization was 15.4 (2-92) days and seven (14.6%) patients died. A total of 70 echocardiograms were performed; 66.7% patients were scanned only once and 33.3% multiple times. Twenty-three (48%) patients showed echocardiographic abnormalities: eight (16.6%) left ventricle (LV) systolic dysfunction, six (12.5%) right ventricle (RV) systolic dysfunction and 12 (25%) coronary dilatation (Z-score>+2.5). Echocardiographic abnormalities were significantly associated with MIS-c, admission to the pediatric intensive care unit, multiple organ dysfunction, ventilatory/vasoactive support, and death (p<0.05). Significantly higher d-dimer (ng/mL) levels were detected in patients with LV dysfunction [16733(4157-115668) vs. 2406.5(190-95040)], RV dysfunction [25769(3422-115668) vs. 2803.5(190-95040)] and coronary artery dilation [9652.5(921-115668) vs. 2724(190- 95040)] (p<0.05). Conclusion: Echocardiographic abnormalities in COVID-19 pediatric patients were frequent and associated with worse clinical outcomes. Exacerbation of the inflammation and coagulation pathways may play an important role in cardiovascular injury in those patients.
- 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.