Publications by authors named "Lilian M Cristofani"

Article Synopsis
  • - The study focused on treatment experiences for kids with NTRK-fused tumors, looking at access to care, how they responded to treatment, side effects, and overall health outcomes.
  • - Researchers reviewed data from 17 pediatric cases treated with larotrectinib, identifying six NTRK fusion subtypes and noting that 11 of 14 patients had positive tumor responses, with various levels of adverse effects reported.
  • - The findings suggest that larotrectinib is effective for treating these tumors in children, but challenges still exist in ensuring consistent access to treatment, particularly in countries with limited resources like Brazil.
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Article Synopsis
  • * A transcriptome analysis of 14 pediatric hepatoblastoma samples revealed 1,492 genes with altered expression, highlighting important biological processes and known cancer-associated genes as well as some novel gene discoveries.
  • * The study identified significant changes in gene expression linked to processes like cell differentiation and metabolism, and noted a large number of dysregulated non-coding RNAs, suggesting their potential role in hepatoblastoma biology.
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Objectives: To evaluate the inconsistency between clinical diagnosis of death and autopsy findings in adolescents with chronic diseases.

Methods: A cross-sectional study including a sample of adolescents' autopsies who died in a pediatric and adolescent tertiary hospital over 18 consecutive years. During this period, there were n = 2912 deaths, and n = 581/2912(20%) occurred in adolescents.

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Acute promyelocytic leukemia currently presents an excellent chance of cure with protocols based on all-trans-retinoic acid (ATRA) and anthracycline or only differentiation agents. However, high early mortality rates continue to be reported METHODS: Between 2000 and 2018, patients were enrolled and retrospectively analyzed by medical records. A modified AIDA protocol, with a 1-year shortening of the treatment duration, reduction in the number of drugs and a strategy to reduce early mortality by the postponement of the initiation of anthracyclines were employed.

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Background: To identify prognostic factors for overall survival through the analysis of 132 patients with Wilms tumor followed at a single center, with emphasis on the inferior vena cava/right atrium extension.

Methods: Retrospective analysis of overall survival using logistic regression models and including age, sex, clinical features, associated syndromes, comorbidities, tumor size before chemotherapy, stage, presence of metastatic disease and its site, invasion of adjacent structures, inferior vena cava/right atrium extension, laterality, tumor histology, chemotherapy protocol, and radiotherapy as potential risk factors.

Results: From January 2000 through November 2021, 132 patients met the inclusion criteria, 64 females and 68 males; 15 (11.

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This study assessed the technical performance of a rapid lateral flow immunochromatographic assay (LFIA) for the detection of anti-SARS-CoV-2 IgG and compared LFIA results with chemiluminescent immunoassay (CLIA) results and an in-house enzyme immunoassay (EIA). To this end, a total of 216 whole blood or serum samples from three groups were analyzed: the first group was composed of 68 true negative cases corresponding to blood bank donors, healthy young volunteers, and eight pediatric patients diagnosed with other coronavirus infections. The serum samples from these participants were obtained and stored in a pre-COVID-19 period, thus they were not expected to have COVID-19.

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The ultrarare hepatoblastoma (HB) is the most common pediatric liver cancer. HB risk is related to a few rare syndromes, and the molecular bases remain elusive for most cases. We investigated the burden of rare damaging germline variants in 30 Brazilian patients with HB and the presence of additional clinical signs.

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Hepatoblastoma (HB) is a rare embryonal tumor, although it is the most common pediatric liver cancer. The aim of this study was to provide an accurate cytogenomic profile of this type of cancer, for which information in cancer databases is lacking. We performed an extensive literature review of cytogenetic studies on HBs disclosing that the most frequent copy number alterations (CNAs) are gains of 1q, 2/2q, 8/8q, and 20; and losses at 1p and 4q.

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Objectives: To prospectively evaluate demographic, anthropometric and health-related quality of life (HRQoL) in pediatric patients with laboratory-confirmed coronavirus disease 2019 (COVID-19).

Methods: This was a longitudinal observational study of surviving pediatric post-COVID-19 patients (n=53) and pediatric subjects without laboratory-confirmed COVID-19 included as controls (n=52) was performed.

Results: The median duration between COVID-19 diagnosis (n=53) and follow-up was 4.

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Article Synopsis
  • A study was conducted to compare various factors and outcomes in children and adolescents with confirmed cases of COVID-19, involving 149 patients from April 2020 to April 2021.
  • Results showed that certain symptoms and medical treatments were less common in children compared to adolescents, and adolescents had greater odds for specific symptoms but fewer hospitalizations.
  • Additionally, the presence of preexisting chronic conditions was linked to higher mortality rates in pediatric patients with severe COVID-19.
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We analyzed 19 cases of breakthrough candidemia from a referral pediatric cancer center in Brazil. All patients had neutropenia and were under antifungal prophylactic regimens, mostly micafungin (68%). Most of the patients were treated with amphotericin B formulations and 30-day mortality was 21%.

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Hepatoblastomas exhibit the lowest mutational burden among pediatric tumors. We previously showed that epigenetic disruption is crucial for hepatoblastoma carcinogenesis. Our data revealed hypermethylation of nicotinamide N-methyltransferase, a highly expressed gene in adipocytes and hepatocytes.

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Introduction: Little attention is given to thrombosis associated with pediatric acute promyelocytic leukemia (APL). This study describes the thrombotic and hemorrhagic manifestations of APL in pediatric patients and evaluates their hemostasis, based on coagulation tests.

Methods: Inclusion criteria were age 0-18 years and APL diagnosis between April 2005 and November 2017.

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Although frequently disseminated to other anatomical sites, neuroblastoma (NB) is rarely reported as involving the central nervous system (CNS), which may reflect insufficient research in poorly controlled systemic disease. Here we demonstrate the involvement of the CNS in patients with NB over 18 months of age at diagnosis of extensive systemic disease. Meningeal metastases were observed even in the presence of complete systemic control.

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Abdominal tumors are one of the most common types of pediatric cancer. Therefore, they should always be included in the differential diagnosis of abdominal masses. Here, we present the case of a child whose initial hypothesis of diagnosis contemplated this possibility.

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Introduction: A high cure rate for Wilms' tumor has been achieved using a multidisciplinary approach. The natural step forward is to offer the benefits of a minimally invasive technique for surgery, which is an obligatory part of treatment. Nevertheless, some authors resist using videolaparoscopic radical nephrectomy (VRN) because of concerns about reducing the cure index.

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Background: Paragangliomas (PGL) are rare tumors derived from neural crest cells, whose origins may vary along the chain of the sympathetic nervous system. Such tumors are often characterized by secretion of catecholamines, but sometimes they are biochemically inactive, which makes diagnosis often challenging. Malignant paraganglioma is defined by the presence of this tumor at sites where chromaffin cells are usually not found or by local invasion of the primary tumor.

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Objective: To analyze and compare the health-related quality of life of adult survivors of acute lymphocytic leukemia and Wilms' tumor amongst themselves and in relation to healthy participants.

Methods: Ninety participants aged above 18 years were selected and divided into three groups, each comprising 30 individuals. The Control Group was composed of physically healthy subjects, with no cancer history; and there were two experimental groups: those diagnosed as acute lymphocytic leukemia, and those as Wilms' Tumor.

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Objective: The aim of this study was to summarize the experience of a tertiary center in treating hepatoblastoma for the last 21 years.

Patients And Methods: Fifty-eight cases were included. The tumor extent and prognosis were assessed using the PRETEXT system.

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Objective: To compare videolaparoscopic nephrectomy and the open technique as treatments for Wilms tumor, specifically the surgical results, immediate and long-term complications, and patient survival.

Methods: A review of charts of children with unilateral Wilms tumor was performed. There were 2 surgical groups: (1) only open surgery and (2) videolaparoscopy.

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Tumors of the kidney, bladder, prostate, testis, and adrenal represent a large part of the adult urologic practice, but are relatively infrequent in children. The natural history and management of these tumors in the pediatric age is different from that of the adults. As result of the successful work of several clinical trial groups in recent decades, there has been a significant improvement in their cure rates.

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Background/aims: The purpose of this study was to compare adrenal gland reserve in acute lymphocytic leukemia (ALL) patients 8 weeks after treatment with either prednisone (PRED) or dexamethasone (DEX) during the induction phase of therapy.

Methods: A double-blind comparative study of patients treated with PRED and DEX was performed. Sixteen patients received PRED (40 mg/m(2)/day) and 13 patients received DEX (6 mg/m(2)/day), both for 28 days.

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