Publications by authors named "Joao Luis Barreira"

Xanthogranulomatous pyelonephritis (XPN) is an uncommon variant of chronic pyelonephritis with a poorly understood pathogenesis and a challenging diagnosis. It is rare in pediatric patients, particularly in the neonatal period. We report the case of an 18-day-old female neonate admitted to the emergency room due to macroscopic hematuria and poor feeding.

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Introduction: Enuresis is frequent in school-aged children and results from a complex interaction between genetics, biological and psychosocial factors. This study aims to analyze bedwetting trajectories between 4 and 7 years of age and to evaluate the impact of biological and developmental characteristics of the child and sociodemographic factors in those bedwetting trajectories.

Methods: Data from 5433 children from the Generation XXI population-based birth cohort was analyzed.

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The atypical hemolytic uremic syndrome (aHUS) in the newborn is a rare disease, with high morbidity. Eculizumab, considered a first-line drug in older children, is not approved in neonates and in children weighing less than 5 kg. We present a 5-day-old female newborn, born at 36 weeks' twin gestation, by emergency cesarean section due to cord prolapse, with birth weight of 2,035 g and Apgar score of 7/7/7, who develops microangiopathic hemolytic anemia, thrombocytopenia, and progressive acute renal failure.

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Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease resulting from loss-of-function pathogenic variants in ADA2 gene, which might resemble polyarteritis nodosa (PAN). The authors present two pediatric cases of ADA2 deficiency with phenotypic manifestations of PAN, including an unusual presentation with spinal cord ischemia. Also described is an assessment of ADA2 activity and gene expression profiling with description of a previously unreported homozygous variant, c.

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Background: Congenital heart disease (CHD) is the most common predisposing cause for childhood infective endocarditis (IE), accounting for 80% of cases. Knowledge about the disease and its complications is a key factor in promoting adherence to prophylaxis recommendations.

Objective: To assess the level of understanding among caregivers of children with CHD of their disease, risks of IE and attitudes concerning oral health and antibiotic prophylaxis of IE.

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