Instituto da Criança - HC/ICr
Colecciones en esta comunidad
CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics
JOURNAL OF CLINICAL IMMUNOLOGY, v.42, n.3, p.514-526, 2022
CD40 ligand (CD40L) deficiency is a rare inborn error of immunity presenting with heterogeneous clinical manifestations. While a detailed characterization of patients affected by CD40L deficiency is essential to an accurate diagnosis and management, information about this disorder in Latin Americ...
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
HUMAN GENETICS AND GENOMICS ADVANCES, v.3, n.1, article ID 100074, 19p, 2022
Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A). RS is characterized by skeletal dysplasia and distinctive facial and physical characteristics. To...
Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport
FRONTIERS IN CELLULAR NEUROSCIENCE, v.15, article ID 803302, 15p, 2022
Biallelic pathogenic variants in TBCK cause encephaloneuropathy, infantile hypotonia with psychomotor retardation, and characteristic facies 3 (IHPRF3). The molecular mechanisms underlying its neuronal phenotype are largely unexplored. In this study, we reported two sisters, who harbored bialleli...
CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics (Jan, 10.1007/s10875-021-01182-5, 2022)
JOURNAL OF CLINICAL IMMUNOLOGY, v.42, n.3, p.527-528, 2022
Fast, cheap and feasible: Implementation of pediatric telemedicine in a public hospital during the Covid-19 pandemic
JORNAL DE PEDIATRIA, v.98, n.2, p.183-189, 2022
Objective: In Brazil, telemedicine was allowed as an exception during the coronavirus disease (COVID-19) pandemic. Despite its recognized value and availability, telemedicine is not universally used, suggesting that some barriers prevent its adoption and acceptance within the community. This stud...
Adverse Radiation Therapy Effects in the Treatment of Head and Neck Tumors
RADIOGRAPHICS, v.42, n.3, p.806-821, 2022
Whether used as a single modality or as part of a combined approach, radiation therapy (RT) plays an essential role in the treatment of several head and neck malignancies. Despite the improvement in radiation delivery techniques, normal structures in the vicinity of the target area remain suscept...
Two-week methotrexate discontinuation in patients with rheumatoid arthritis vaccinated with inactivated SARS-CoV-2 vaccine: a randomised clinical trial
ANNALS OF THE RHEUMATIC DISEASES, v.81, n.6, p.889-897, 2022
Objective To evaluate the effect on immunogenicity and safety of 2-week methotrexate (MTX) discontinuation after each dose of the Sinovac-CoronaVac vaccine versus MTX maintenance in patients with rheumatoid arthritis (RA). Methods This was a single-centre, prospective, randomised, investigator-bl...
Increased nutrition risk at admission is associated with longer hospitalization in children and adolescents with COVID-19
NUTRITION IN CLINICAL PRACTICE, v.37, n.2, p.393-401, 2022
Background We investigated the association of nutritional risk and inflammatory marker level with length of stay (LOS) in children and adolescents hospitalized for COVID-19 infection in two pediatric teaching hospitals in a developing country. Methods This was a cross-sectional analytical retrosp...
Association between fluid overload and mortality in newborns: a systematic review and meta-analysis
PEDIATRIC NEPHROLOGY, v.37, n.5, p.983-992, 2022
Fluid overload (FO) is associated with higher rates of mortality and morbidity in pediatric and adult populations. The aim of this systematic review and meta-analysis was to investigate the association between FO and mortality in critically ill neonates. Systematic search of Ovid MEDLINE, EMBASE,...
Does Arterialization of Portal Vein Have Any Effects in Large-for-Size Liver Transplantation? Hemodynamic, Histological, and Biomolecular Experimental Studies
JOURNAL OF INVESTIGATIVE SURGERY, v.35, n.6, p.1197-1207, 2022
Background: In pediatric liver transplantation, the optimal size of the transplanted liver ranges between 0.8% and 4.0% of the recipient's weight. Sometimes, the graft weight exceeds this upper limit, characterizing the large-for-size condition potentially associated with reduced blood flow and w...