Departamento de Pediatria - FM/MPE
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The Heart of Pediatric Patients with COVID-19: New Insights from a Systematic Echocardiographic Study in a Tertiary Hospital in Brazil
ARQUIVOS BRASILEIROS DE CARDIOLOGIA, v.117, n.5, p.954-964, 2021
Background: COVID-19 pandemic represents a huge burden to the health system in the world. Although pediatric COVID-19 patients have been relatively spared compared with adults, recent reports showed an increasing number of critically ill patients with multisystemic inflammatory syndrome in childr...
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
GENETICS IN MEDICINE, v.23, n.10, p.1912-1921, 2021
Purpose In this study, we aimed to characterize the clinical phenotype of a SHANK1-related disorder and define the functional consequences of SHANK1 truncating variants. Methods Exome sequencing (ES) was performed for six individuals who presented with neurodevelopmental disorders. Individuals we...
Differences in children and adolescents with SARS-CoV-2 infection: a cohort study in a Brazilian tertiary referral hospital
CLINICS, v.76, article ID e3488, 8p, 2021
OBJECTIVES: To compare demographic/clinical/laboratory/treatments and outcomes among children and adolescents with laboratory-confirmed coronavirus disease 2019 (COVID-19). METHODS: This was a cross-sectional study that included patients diagnosed with pediatric COVID-19 (aged <18 years) between ...
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.185, n.12, p.3916-3923, 2021
Sotos syndrome is characterized by overgrowth starting before birth through childhood with intellectual disability and craniofacial anomalies. The majority of patients are large for gestational age with developmental delay or intellectual disability. The majority of cases are caused by pathogenic...
Poor Prognosis of COVID-19 Acute Respiratory Distress Syndrome in Lupus Erythematosus: Nationwide Cross-Sectional Population Study Of 252 119 Patients
ACR OPEN RHEUMATOLOGY, v.3, n.11, p.804-811, 2021
Objective Coronavirus disease 2019 (COVID-19) has progressed rapidly around the world, reaching a lethality of up to 20% due to acute respiratory distress syndrome (ARDS). This latter condition is a relevant concern for systemic lupus erythematosus (SLE); however, data on this topic are limited t...
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms
CLINICAL GENETICS, v.100, n.5, p.615-623, 2021
Congenital limb deficiency (CLD), one of the most common congenital anomalies, is characterized by hypoplasia/aplasia of one or more limb bones and can be isolated or syndromic. The etiology in CLD is heterogeneous, including environmental and genetic factors. A fraction remains with no etiologic...
Nutritional status at diagnosis among children with cancer referred to a nutritional service in Brazil
HEMATOLOGY TRANSFUSION AND CELL THERAPY, v.43, n.4, p.389-395, 2021
Introduction: Children and adolescents with cancer are particularly vulnerable to malnutrition and require special attention on nutritional assessment. An adequate nutritional status during treatment is essential in reducing morbidity and mortality, being a modifiable risk factor for clinical out...
Cardiac and renal effects of liver cirrhosis in a growing animal model
ACTA CIRURGICA BRASILEIRA, v.36, n.8, article ID e360806, 8p, 2021
Purpose: To assess the biochemical, histological, histomorphometric and molecular effects of biliary duct ligation (BDL) induced liver cirrhosis in the heart and kidneys. Methods: Thirty-two weaning rats (21 days old, 50-70 g) underwent BDL and were divided in four groups (euthanasia after two, f...
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases
GENETICS AND MOLECULAR BIOLOGY, v.44, n.4, article ID e20210061, 7p, 2021
Next-generation sequencing (NGS) has altered clinical genetic testing by widening the access to molecular diagnosis of genetically determined rare diseases. However, physicians may face difficulties selecting the best diagnostic approach. Our goal is to estimate the rate of possible molecular dia...
Health worker recommended vaccination rates among medical students in Brazil
VACCINE: X, v.9, article ID 100118, 4p, 2021
Health workers are a risk population for many infectious diseases, which leads to a number of vaccines being routinely recommended for health care staff. Medical students are also prone to such hazards. This study accesses undergraduate medicine students' compliance to recommended health-staff va...