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Papers by Mara Pianovski

Supplementary Figure 1 from Gene Expression Profiling of Childhood Adrenocortical Tumors

Supplementary Table 2 from Gene Expression Profiling of Childhood Adrenocortical Tumors

Supplementary Table 5 from Gene Expression Profiling of Childhood Adrenocortical Tumors

Supplementary Table 3 from Gene Expression Profiling of Childhood Adrenocortical Tumors

Supplementary Figure 1 Legend from Gene Expression Profiling of Childhood Adrenocortical Tumors

Supplementary Table 4 from Gene Expression Profiling of Childhood Adrenocortical Tumors

Revista Brasileira de Saúde Materno Infantil, Jun 1, 2015

Introduction: Gaucher's disease is flaw in enzyme metabolism that leads to the accumulation of gl... more Introduction: Gaucher's disease is flaw in enzyme metabolism that leads to the accumulation of glycocerebrosides in cells that characterizes the signs and symptoms of the condition. At the time of diagnosis, retarded growth, among other signs and symptoms, is observed in children and adolescents. The disease is treated by enzyme replacement, which may lead to weight gain in the patient, owing to the reduction in energy metabolism. Description: two brothers diagnosed with type I Gaucher's disease were evaluated prior to commencing enzyme replacement therapy and subsequently after every two months of treatment, for a period of six months. Body composition was assessed using bioelectrical impedance, which measures the quantity of fat-free and fat mass; energy consumption and macronutrients were evaluated using a three-day food diary. Discussion: the two patients were of low height for age on diagnosis and had experienced an increase in fat mass during treatment, with one patient also presenting with an increase in fat free mass. Energy consumption and macronutrients remained fairly constant during the follow-up period in both patients.

Arquivos De Neuro-psiquiatria, Sep 1, 2005

RESUMO-O acometimento cerebral pela histoplasmose é raro, ocorrendo mais comumente sob a form a d... more RESUMO-O acometimento cerebral pela histoplasmose é raro, ocorrendo mais comumente sob a form a de doença disseminada. Raramente, a doença pode ocorrer sob a forma de histoplasmomas, que simulam t u m o res do sistema nervoso central. Mais raro ainda é a ocorrência de histoplasmomas em pacientes imunocompetentes como única manifestação desta infecção. Neste relato é apresentado um paciente masculino de 13 anos com cefaléia, vômitos, redução da acuidade visual e auditiva à esquerda e hemipare s i a à direita. A ressonância magnética mostrou lesão expansiva com impregnação anelar de contraste, localizada na região talâmica, hipotalâmica e quiasmática à esquerda. Foi realizada biópsia estereotáxica e a avaliação histológica do material definiu o diagnóstico de histoplamose. Iniciou-se tratamento com fluconazol, com melhora clínica importante após 6 meses do início do tratamento. PALAVRAS-CHAVE: histoplasmose, sistema nervoso central, ressonância magnética. Histoplasmoma as isolated central nervous system lesion in an immunocompetent patient ABSTRACT-The cerebral lesions are uncommon in patients with histoplasmosis, occurring more fre q u e n t l y in the disseminated form of the disease. Rare l y, the disease may present as a histoplasmoma, simulating a neoplastic lesion. The histoplasmoma as the only manifestation of this infection in immunocompetent patients is even rare r. This case re p o rt describes a 13 year-old male patient with headache, vomit, low visual acuity and auditive deficit on the left, and paresis on the right. The magnetic resonance image showed an expansible lesion in the thalamic, hypothalamic, and chiasmatic regions, which showed ring enhancement. The stereotactic biopsy was perf o rmed and the histological diagnosis of histoplasmosis was defined. The t reatment was initiated with fluconazole. The patient showed important clinical improvement after 6 months.

Pediatric adrenocortical tumors (ACT) are rare and often fatal malignancies; little is known rega... more Pediatric adrenocortical tumors (ACT) are rare and often fatal malignancies; little is known regarding their etiology and biology. To provide additional insight into the nature of ACT, we determined the gene expression profiles of 24 pediatric tumors (five adenomas, 18 carcinomas, and one undetermined) and seven normal adrenal glands. Distinct patterns of gene expression, validated by quantitative real-time PCR and Western blot analysis, were identified that distinguish normal adrenal cortex from tumor. Differences in gene expression were also identified between adrenocortical adenomas and carcinomas. In addition, pediatric adrenocortical carcinomas were found to share similar patterns of gene expression when compared with those published for adult ACT. This study represents the first microarray analysis of childhood ACT. Our findings lay the groundwork for establishing gene expression profiles that may aid in the diagnosis and prognosis of pediatric ACT, and in the identification of signaling pathways that contribute to this disease.

Objetivo: Avaliar epidemiologicamente os dados das crianças atendidas no Hospital de Clínicas da ... more Objetivo: Avaliar epidemiologicamente os dados das crianças atendidas no Hospital de Clínicas da Universidade Federal do Paraná, diagnosticadas com câncer em um período de 10 anos. Métodos: Análise dos dados de 424 pacientes, de 0 a 14 anos, diagnosticados no período de 2001 a 2010. Foram excluídos da análise de sobrevida os pacientes com diagnóstico realizado após 31/12/2009, aqueles com carcinoma de suprarrenal e os que realizaram tratamento prévio em outros serviços.Resultados: Do total, 211 (49,8%) eram do sexo masculino e 213 (50,2%) do sexo feminino. Em relação à distribuição dos pacientes de acordo com a faixa etária, 30 (7,1%) eram menores de 1 ano, 179 (42,2%) de 1 a 4 anos, 137 (32,3%) de 5 a 9 anos e 78 (18,4%) de 10 a 14 anos. Em ordem de frequência, ficaram em primeiro lugar as leucemias (46,0%), seguidas pelos linfomas (13,0%), retinoblastomas (7,8%) e tumores de sistema nervoso central (SNC) (6,0%). Os tumores sólidos em geral corresponderam a 174 casos (41,0%). Foram incluídos 316 casos na análise de sobrevida, dentre os quais 220 (69,6%) estavam vivos ao final de 5 anos de seguimento, 92 (29,1%) foram a óbito pela neoplasia ou por causas a ela relacionadas e 4 (1,3%) por outras causas. A sobrevida global em 5 anos foi de 74,1% para as leucemias, 78,2% para os linfomas e 67,9% para os tumores sólidos. Conclusão: A análise de sobrevida das leucemias está em concordância com os dados de estudos de países desenvolvidos.

Revista Brasileira De Hematologia E Hemoterapia, Mar 1, 2002

Recém-nascidos com Síndrome de Down (SD) podem apresentar uma proliferação transitória de células... more Recém-nascidos com Síndrome de Down (SD) podem apresentar uma proliferação transitória de células imaturas no sangue periférico e medula óssea. A leucometria pode estar muito elevada, impossibilitando o diagnóstico diferencial com leucemia mielóide aguda (LMA). Em contraste com a LMA, a SMT regride espontaneamente em quatro a oito semanas. Objetivo: Apresentar uma criança com SD, SMT e fibrose hepática, que resultou num prognóstico desfavorável. Relato do Caso: D.M.S., masculino, estigmas da SD, hepatoesplenomegalia, sopro sistólico. Hemograma: 95.000 leucócitos/mm³, 19% blastos, 170.000 plaquetas/mm³, hemoglobina 16,2g/dL. Bilirrubina total 35,86 mg/dL, GOT 184 UI, GPT 122 UI. Ecocardiograma: canal átrio-ventricular total, hipertensão pulmonar, persistência do canal arterial. Sorologias negativas. Biópsia hepática: colestase, fibrose portal e sinusoidal, elementos mielóides imaturos. Após normalização da leucometria, manteve plaquetopenia e disfunção hepática. No 50º dia de vida, quimioterapia com Daunoblastina e Citarabina. Evoluiu com pneumonia e insuficiência renal. Óbito no 61º dia. Comentários: A história natural da SMT gera questões intrigantes a respeito de sua origem, evolução e desenvolvimento de leucemia subseqüente. A disfunção hepática e a fibrose têm impacto prognóstico. Em relato anterior, de cada oito casos de SMT com disfunção hepática, seis evoluíram para óbito, sendo que fibrose hepática difusa, associada a eritropoese extramedular, foi encontrada em quatro casos. Acredita-se que a lesão hepática resulta da produção de citocinas pelos megacariócitos, por ser o fígado o segundo órgão hematopoético de células anormais, após a medula óssea.

Journal of Pediatric Hematology Oncology, 2016

Hemophagocytic lymphohistiocytosis (HLH) is a rare and aggressive syndrome characterized by overa... more Hemophagocytic lymphohistiocytosis (HLH) is a rare and aggressive syndrome characterized by overactivation of the immune system. Although secondary HLH has been frequently associated with malignancies, this entity is rarely triggered by solid tumors, such as neuroblastomas. Herein, we describe a 14-monthold girl with a late diagnosis of bilateral adrenal neuroblastoma who developed HLH 6 days after the initiation of chemotherapy. On the basis of the large tumoral mass and the time of onset of her symptoms suggestive of HLH, we hypothesize that tumor cell destruction induced by chemotherapy drugs was the trigger to the development of hematophagocytic lymphohistiocytosis syndrome.

Hematological Oncology

Two patients were excluded because they received different treatment. The median age of 116 patie... more Two patients were excluded because they received different treatment. The median age of 116 patients was 16.2 years, 53% were female. For treatment with DA-EPOCH-R, B 04 and N 95, event-free (EFS) survival at 5 years was 84% (95%confidence interval (CI), 72-91%), 59% (CI, 39-74%), and 39% (CI, 23-65%); survival (OS) was 90% (CI, 79-95%), 72% (CI, 51-88%) and 70% (CI, 45-85%), respectively. EFS and OS with DA-EPOCH-R were significant superior to treatment with B 04 (p = .016 for EFS, p = .039 for OS) and N 95 (p < .001 for EFS and p = .026 for OS). The difference in EFS observed between intensified B-NHL-BFM 04 and the previous treatment regimen was not significant (p = .14). EFS for 52 patients receiving DA-EPOCH-R without pretreatment was 87% (CI, 74-93%).

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

SSRN Electronic Journal, 2020

Background: Our research group recently showed that the only ASNase formulation available in Braz... more Background: Our research group recently showed that the only ASNase formulation available in Brazil from 2017 to 2018 when used at the same dose and frequency as the formulation provided previously did not reach, in most cases, the serum activity considered therapeutic. Based on these data, our goal was to assess the impact of these facts on the prognosis of children with ALL at 10 different pediatric oncology centers in our country. Methods: a multicenter retrospective observational study followed by prospective follow-up. Patients aged >1 and <18 years in first-line treatment followed up at 10 referral centers of Brazil, between 2014 and 2018 who received the formulation Leuginase® were identified (Group B). For each patient, the center registered 2 patients who received ASNase in the presentation of Aginasa® exclusively (Group A). Data collection was performed by searching for medical records and registered using Redcap® software. Findings: A total of 419 patients were included; 282 in Group A and 137 in Group B. Clinical features at diagnosis were similar in both groups. Group A had a 3-year OS and EFS of 91·8% and 84·8% respectively, while Group B had a 3-year OS of 83·8% (p= 0·003) and EFS of 76·1% (p = 0·008). Interpretation: There was an impact on 3-year OS and EFS of children who received an asparaginase formulation that previously showed inferior activity in laboratory analysis. This result highlights the importance of evaluating asparaginase formulations and monitoring their activity during treatment. Funding Statement: The research was supported by FIPE/HCPA (Fundo de Incentivo a Pesquisa e Eventos do Hospital de Clinicas de Porto Alegre). Declaration of Interests: The authors declare no conflicts of interest. Ethics Approval Statement: Ethical approval to conduct this study has been granted by the Ethics Committee of Hospital de Clinicas de Porto Alegre (HCPA). Participating adults as well as those responsible for minors signed informed consents in duplicate, keeping a copy for themselves.

Cancers, 2019

The TP53 R337H mutation is associated with increased incidence of pediatric adrenocortical tumor ... more The TP53 R337H mutation is associated with increased incidence of pediatric adrenocortical tumor (ACT). The different environmental conditions where R337H carriers live have not been systematically analyzed. Here, the R337H frequencies, ACT incidences, and R337H penetrance for ACT were calculated using the 2006 cohort with 4165 R337H carriers living in Paraná state (PR) subregions. The effectiveness of a second surveillance for R337H probands selected from 42,438 tested newborns in PR (2016 cohort) was tested to detect early stage I tumor among educated families without periodical exams. Estimation of R337H frequencies and ACT incidence in Santa Catarina state (SC) used data from 50,115 tested newborns without surveillance, ACT cases from a SC hospital, and a public cancer registry. R337H carrier frequencies in the population were 0.245% (SC) and 0.306% (PR), and 87% and 95% in ACTs, respectively. The ACT incidence was calculated as ~6.4/million children younger than 10 years per ye...

Revista Brasileira de Cancerologia, 2015

Introdução: A avaliação do estado nutricional de crianças e adolescentes com câncer é fundamental... more Introdução: A avaliação do estado nutricional de crianças e adolescentes com câncer é fundamental para a elaboração do plano de cuidados nutricionais adequado, entretanto as alterações da própria doença e do tratamento podem dificultar essa avaliação. Objetivo: Descrever quais são os métodos antropométricos mais utilizados na avaliação do estado nutricional de crianças e adolescentes com câncer. Método: Realizou-se revisão sistemática da literatura de publicações referentes à avaliação nutricional de crianças e adolescentes com câncer, dos últimos dez anos nas bases de dados MEDLINE, PubMed, Web of Science e LILACS. Resultados: Foram incluídos nove artigos, nos quais foram destacados a amostra, o objetivo e os métodos de avaliação nutricional utilizados. A avaliação de dados isolados da antropometria como peso e estatura de crianças e adolescentes com câncer não é suficiente, uma vez que essa população apresenta alteração da composição corporal. Conclusão: Na prática clínica, a util...

Science of The Total Environment, 2019

The incidence of variable congenital malformation (CM) among 399 municipalities in the state of P... more The incidence of variable congenital malformation (CM) among 399 municipalities in the state of Paraná, southern Brazil, suggests the etiological role of environmental factors. This study examined a) environmental concentrations of chlorine anions (Cl −) associated with organochlorines (OCs) and b) associations between these chemicals and agricultural output with CMs using a geographical information system. In one of the three years during the sampling period (2008, 2009 or 2010) Cl − , dichlorodiphenyltrichloroethane (p,p′-DDT), dichlorodiphenyldichloroethylene (p, p′-DDE), dichlorodiphenyldichloroethane (p,p′-DDD), and endosulfan levels were measured in 465 (465/736, 63%) catchment basins. Agricultural outputs for crops during 2006-2010 were also evaluated (t/km 2). Further, CM kernel density for the 399 municipalities in Paraná during 2007-2014 was investigated. Cl − levels increased significantly in one of the three years (2008, 2009 or 2010) in western catchment basins, compared to 1996 (p b 0.0001). The municipalities were divided according to the obtained Cl − levels, where sub-region C2 (central-southern) b 1.8 mg/L ≤ sub-regions C1 (northern-western) and C3 (eastern-southern). We identified 8756 cases of CMs among 1,221,287 newborns (NB) in all sub-regions. C1 had higher DDT-DDE-DDD (p,p′-DDT + p,p′-DDE + p,p′-DDD) concentrations, agricultural output, and CM kernel density. C2 and C3 had minor agricultural outputs (per square kilometer) and CM densities. A 2.96 mg/L increase in Cl − between sub-regions C1 and C2 was co-localized with a 45% increase in CM density (spatial relative risk = 1.45, CI 95%: 1.36-1.55). C1 had the highest log likelihood ratios (p = 0.001) identified via SaTScan clustering analyses. Organochlorines and other toxic chlorinated chemicals may contribute to CMs in humans, and these chemicals are ultimately transformed and release Cl − in rivers. Higher Cl − levels were correlated significantly with higher agricultural productivity, DDT-DDE-DDD levels, and CMs in some parts of the northern and western sub-regions (C1).

Leukemia Research, 2015

Internal tandem duplications (ITD) of FLT3 gene occur in about a third of acute promyelocytic leu... more Internal tandem duplications (ITD) of FLT3 gene occur in about a third of acute promyelocytic leukemias (APL). We investigated the patterns of blood count, surface antigen, expression, chromosome aberrations, PML-RARa isoform, gene expression profile (GEP) and survival in 34 APL patients according to FLT3-ITD status. 97% had a t(15;17) and all of them carried PML-RARa gene fusion, 8 (23.5%) had a FLT3-ITD mutation. Presence of ITD was associated with higher Hb and WBC levels, bcr3 isoform, CD34 expression, CD2 or CD2/CD34 expression. In a multivariate analysis, Hb > 9.6 g/dL and WBC ≥ 20 × 10 9 /L were important factors for predicting ITD presence. GEP showed that FLT3-ITD carriers clustered separately, even when as few as 5 genes were considered. This study provides further evidence that FLT3-ITDs carriers constitute a biologically distinct group of APL patients.