LIM/36 - Laboratório de Pediatria Clínica

O Laboratório de Pediatria Clínica é ligado ao Departamento de Pediatria da Faculdade de Medicina da Universidade de São Paulo (FMUSP).

Linhas de pesquisa: marcadores celulares e moleculares de infecções pediátricas; investigação molecular de doenças genéticas; investigação laboratorial de imunodeficiência; alergia alimentar na infância; investigação laboratorial de doenças endocrinológicas pediátricas; fisiopatologia e diagnóstico de afecções nefrológicas em crianças; fisiopatologia e diagnóstico de doenças autoimunes; investigação laboratorial de neoplasias pediátricas; investigação clínica e laboratorial do binômio mãe-filho e genômica pediátrica.

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Recent Submissions

  1. Whole-genome sequencing of 1,171 elderly admixed individuals from Sao Paulo, Brazil

    NATURE COMMUNICATIONS, v.13, n.1, article ID 1004, 11p, 2022

    As whole-genome sequencing (WGS) becomes the gold standard tool for studying population genomics and medical applications, data on diverse non-European and admixed individuals are still scarce. Here, we present a high-coverage WGS dataset of 1,171 highly admixed elderly Brazilians from a census-b...

  2. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

    JOURNAL OF MEDICAL GENETICS, v.59, n.2, p.165-169, 2022

    Background Pathogenic heterozygous SIX1 variants (predominantly missense) occur in branchio-otic syndrome (BOS), but an association with craniosynostosis has not been reported. Methods We investigated probands with craniosynostosis of unknown cause using whole exome/genome (n=628) or RNA (n=386) ...

  3. Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center

    ARQUIVOS BRASILEIROS DE CARDIOLOGIA, v.118, n.1, p.61-67, 2022

    Background: Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and t...

  4. Patient with agammaglobulinemia produces anti-SARS-CoV-2 reactive T-cells after CoronaVac vaccine

    CLINICS, v.77, article ID 100007, 2p, 2022

  5. Mental Health Impact in Latin American Pediatric Rheumatologists During the COVID-19 Pandemic

    JCR-JOURNAL OF CLINICAL RHEUMATOLOGY, v.28, n.2, p.E506-E510, 2022

    Objective The aim of this study was to assess mental health in Latin American pediatric rheumatologists (LAPRs) during the COVID-19 pandemic. Methods A cross-sectional study was performed with 318 LAPRs based on an online, self-rated survey about clinical practice/mental health impacts during the...

  6. Care provided by nurses to patients with juvenile systemic lupus erythematosus

    LUPUS, v.31, n.3, p.367-372, 2022

    Objectives To describe the care provided by Brazilian nurses to patients with Juvenile Systemic Lupus Erythematosus (JSLE) using a self-administered questionnaire and to evaluate the possible association of demographic data and knowledge of the disease with availability of tools for diagnosis and...

  7. Beyond the Standard of Care: An Exploratory Qualitative Study of an Implemented Integrative Therapeutic Care Program in a Brazilian Pediatric Oncology Unit


    Introduction: This article examines the feedback of health care providers within the implementation of an integrative care project in a clinic for pediatric oncology in Sao Paulo, Brazil. Since 2017, the project has implemented external anthroposophic therapies in the activities of daily nursing....

  8. Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.188, n.3, p.760-767, 2022

    Mucopolysaccharidosis type IIIB is a rare autosomal recessive disorder characterized by deficiency of the enzyme N-acetyl-alpha-d-glucosaminidase (NAGLU), caused by biallelic pathogenic variants in the NAGLU gene, which leads to storage of heparan sulfate and a series of clinical consequences whi...

  9. Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis

    CLINICAL GENETICS, v.101, n.4, p.476-478, 2022

  10. Identifying clinical phenotypes in extremely low birth weight infants-an unsupervised machine learning approach

    EUROPEAN JOURNAL OF PEDIATRICS, v.181, n.3, p.1085-1097, 2022

    There is increasing evidence that patient heterogeneity significantly hinders advancement in clinical trials and individualized care. This study aimed to identify distinct phenotypes in extremely low birth weight infants. We performed an agglomerative hierarchical clustering on principal componen...