MARIA HELENA VAISBICH
Projetos de Pesquisa
Unidades Organizacionais
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
4 resultados
Resultados de Busca
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- A comprehensive model for assessing and classifying patients with thrombotic microangiopathy: the TMA-INSIGHT score(2023) ADDAD, Vanessa Vilani; PALMA, Lilian Monteiro Pereira; VAISBICH, Maria Helena; BARBOSA, Abner Macola Pacheco; ROCHA, Naila Camila da; CARDOSO, Marilia Mastrocolla de Almeida; ALMEIDA, Juliana Tereza Coneglian de; SORDI, Monica A. P. de Paula de; MACHADO-RUGOLO, Juliana; ARANTES, Lucas Frederico; ANDRADE, Luis Gustavo Modelli deBackground Thrombotic Microangiopathy (TMA) is a syndrome characterized by the presence of anemia, thrombocytopenia and organ damage and has multiple etiologies. The primary aim is to develop an algorithm to classify TMA (TMA-INSIGHT score). Methods This was a single-center retrospective cohort study including hospitalized patients with TMA at a single center. We included all consecutive patients diagnosed with TMA between 2012 and 2021. TMA was defined based on the presence of anemia (hemoglobin level < 10 g/dL) and thrombocytopenia (platelet count < 150,000/mu L), signs of hemolysis, and organ damage. We classified patients in eight categories: infections; Malignant Hypertension; Transplant; Malignancy; Pregnancy; Thrombotic Thrombocytopenic Purpura (TTP); Shiga toxin-mediated hemolytic uremic syndrome (STEC-SHU) and Complement Mediated TMA (aHUS). We fitted a model to classify patients using clinical characteristics, biochemical exams, and mean arterial pressure at presentation. Results We retrospectively retrieved TMA phenotypes using automatic strategies in electronic health records in almost 10 years (n = 2407). Secondary TMA was found in 97.5% of the patients. Primary TMA was found in 2.47% of the patients (TTP and aHUS). The best model was LightGBM with accuracy of 0.979, and multiclass ROC-AUC of 0.966. The predictions had higher accuracy in most TMA classes, although the confidence was lower in aHUS and STEC-HUS cases. Conclusion Secondary conditions were the most common etiologies of TMA. We retrieved comorbidities, associated conditions, and mean arterial pressure to fit a model to predict TMA and define TMA phenotypic characteristics. This is the first multiclass model to predict TMA including primary and secondary conditions.
- Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021(2022) SILVA, Cassiano Augusto Braga; ANDRADE, Luis Gustavo Modelli de; VAISBICH, Maria Helena; BARRETO, Fellype de CarvalhoAbstract Fabry disease (FD) is an X-linked inherited disorder caused by mutations in the GLA gene encoding enzyme alpha-galactosidase A (α-Gal A). The purpose of this study was to produce a consensus statement to standardize the recommendations concerning kidney involvement in FD and provide advice on the diagnosis, screening, and treatment of adult and pediatric patients. This consensus document was organized from an initiative led by the Committee for Rare Diseases (Comdora) of the Brazilian Society of Nephrology (SBN). The review considered randomized clinical trials, real-world data studies, and the expertise of its authors. The purpose of this consensus statement is to help manage patient and physician expectations concerning the outcomes of treatment. Our recommendations must be interpreted within the context of available evidence. The decisions pertaining to each individual case must be made with the involvement of patients and their families and take into account not only the potential cost of treatment, but also concurrent conditions and personal preferences. The Comdora intends to update these recommendations regularly so as to reflect recent literature evidence, real-world data, and appreciate the professional experience of those involved. This consensus document establishes clear criteria for the diagnosis of FD and for when to start or stop specific therapies or adjuvant measures, to thus advise the medical community and standardize clinical practice.
- COMDORA-SBN recommendations for patients with rare kidney diseases in relation to the Covid-19 pandemic(2020) COLARES, Vinícius Sardão; MIRANDA, Silvana Maria; ANDRADE, Luis Gustavo Modelli de; PALMA, Lilian Monteiro Pereira; CASTRO, Maria Cristina Ribeiro de; SILVA, Cassiano Augusto Braga; PENIDO, Maria Goretti Moreira Guimarães; SOBRAL, Roberta; VAISBICH, Maria HelenaABSTRACT During the Covid-19 pandemic, the issue is how to maintain adequate care for people with other diseases. In this document, the SBN Rare Diseases Committee (COMDORA) gives some guidelines on the care of patients with rare kidney diseases. These patients should follow the recommendations for the general population, bearing in mind that, as they have chronic kidney disease, they are included in the risk group for more serious outcomes if they develop Covid-19. Non-essential decision-making procedures should be postponed. In stable cases under appropriate treatment, we must choose to contact our patients remotely, using teleconsultations and home exam collections (if possible). In the presence of a symptom or sign of decompensation of the underlying disease, or infection with Sars-cov-2, advise the patient to seek medical assistance. The patient should not be waiting to get worse. Changes to the prescription should only be made on a scientific basis. Dosage suspension or change is not recommended, even in cases in which the patient needs to go to a center to receive his medication; in this case, the infusion center must follow the recommendations of the Ministry of Health. If the patient develops Covid-19 and uses any drugs, check the need for dose adjustment of the routine medications. Avoid the use of antimetabolics and anti-CD20 in patients with Covid-19, as they reduce viral clearance and predispose to bacterial infections. Contact between the patient and the medical team is essential; changes are recommended only with specialized medical guidance.
- Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry(2022) VAISBICH, Maria Helena; ANDRADE, Luis Gustavo Modelli de; NEVES, Precil Diego Miranda de Menezes; PALMA, Lilian Monteiro Pereira; CASTRO, Maria Cristina Ribeiro de; SILVA, Cassiano Augusto Braga; BARBOSA, Maria Izabel Neves de Holanda; PENIDO, Maria Goretti Moreira Guimaraes; FERRA NETO, Oreste Angelo; SOBRAL, Roberta Mendes Lima; MIRANDA, Silvana Maria Carvalho; ARAUJO, Stanley de Almeida; PIETROBOM, Igor Gouveia; TAKASE, Henrique Mochida; RIBEIRO, Claudia; SILVA, Rafael Marques da; CARVALHO, Cesar Augusto Almeida de; MACHADO, David Jose Barros; SILVA, Ana Mateus Simoes Teixeira E; SILVA, Andreia Ribeiro da; RUSSO, Enzo Ricardo; BARROS, Flavio Henrique Soares; NASSERALA, Jarinne Camilo Landim; OLIVEIRA, Luciana Schmitt Cardon de; SYLVESTRE, Lucimary de Castro; WEISSHEIMER, Rafael; NASCIMENTO, Sueli Oliveira; BIANCHINI, Gilson; BARRETO, Fellype de Carvalho; VELOSO, Valeria Soares Pigozzi; FORTES, Patricia Marques; COLARES, Vinicius Sardao; GOMES, Jaelson Guilhem; LEITE, Andre Falcao Pedrosa; MESQUITA, Pablo Girardelli Mendonca; VIEIRA-NETO, Osvaldo MeregeBackground Atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disease. Therefore, studies involving large samples are scarce, making registries powerful tools to evaluate cases. We present herein the first analysis of the Brazilian aHUS Registry (BRaHUS). Methods Analysis of clinical, laboratory, genetic and treatment data from patients inserted in the BRaHUS, from 2017 to 2020, as an initiative of the Rare Diseases Committee of the Brazilian Society of Nephrology. Results The cohort consisted of 75 patients (40 adults and 35 pediatric). There was a predominance of women (56%), median age at diagnosis of 20.7 years and a positive family history in 8% of cases. Renal involvement was observed in all cases and 37% had low C3 levels. In the <2 years of age group, males were predominant. Children presented lower levels of hemoglobin (P = .01) and platelets (P = .003), and higher levels of lactate dehydrogenase (LDH) (P = .004) than adults. Genetic analysis performed in 44% of patients revealed pathogenic variants in 66.6% of them, mainly in CFH and the CFHR1-3 deletion. Plasmapheresis was performed more often in adults (P = .005) and 97.3% of patients were treated with eculizumab and its earlier administration was associated with dialysis-free after 3 months (P = .08). Conclusions The cohort of BRaHUS was predominantly composed of female young adults, with renal involvement in all cases. Pediatric patients had lower hemoglobin and platelet levels and higher LDH levels than adults, and the most common genetic variants were identified in CFH and the CFHR1-3 deletion with no preference of age, a peculiar pattern of Brazilian patients.