LIM/36 - Laboratório de Pediatria Clínica
Collections in this community
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...
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) ...
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...
Patient with agammaglobulinemia produces anti-SARS-CoV-2 reactive T-cells after CoronaVac vaccine
CLINICS, v.77, article ID 100007, 2p, 2022
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...
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...
Beyond the Standard of Care: An Exploratory Qualitative Study of an Implemented Integrative Therapeutic Care Program in a Brazilian Pediatric Oncology Unit
JOURNAL OF ALTERNATIVE AND COMPLEMENTARY MEDICINE, v.27, n.11, p.1002-1010, 2021
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....
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...
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
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...