A5028605262- Lysosomal Storage Disorders Research
- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- Pregnancy and preeclampsia studies
- Potassium and Related Disorders
- Genomic variations and chromosomal abnormalities
- Reproductive System and Pregnancy
- Hemoglobinopathies and Related Disorders
- Genomics and Rare Diseases
- Inflammation biomarkers and pathways
- Psoriasis: Treatment and Pathogenesis
- Hearing, Cochlea, Tinnitus, Genetics
- Oral and gingival health research
- Calcium signaling and nucleotide metabolism
- Congenital heart defects research
- Tuberculosis Research and Epidemiology
- Frailty in Older Adults
- Viral Infections and Immunology Research
- Herpesvirus Infections and Treatments
- T-cell and B-cell Immunology
- Dialysis and Renal Disease Management
- Intensive Care Unit Cognitive Disorders
- Immune Response and Inflammation
- Infectious Encephalopathies and Encephalitis
- Platelet Disorders and Treatments
Hospital Israelita Albert Einstein
2022-2024
Instituto de Medicina Integral Professor Fernando Figueira
2015-2022
Background Whole-Genome Sequencing (WGS) and Whole-Transcriptome (WTS) have emerged as transformative tools in the diagnosis of rare diseases with complex phenotypes. These technologies enable deep analysis genome RNA expression, uncovering structural, intronic, non-coding, mitochondrial variants that traditional methods might miss, thus facilitating understanding gene function regulation. Methods We enrolled 8966 patients suspected or hereditary cancer risk syndromes from 21 centers...
Hearing loss (HL) is a common sensory deficit in humans and represents an important clinical social burden. We studied whole-genome sequencing data of cohort 2,097 individuals from the Brazilian Rare Genomes Project who were unaffected by hearing to investigate pathogenic likely variants associated with nonsyndromic (NSHL). found relevant frequencies harboring these alterations: 222 heterozygotes (10.59%) for sequence variants, 54 (2.58%) copy-number (CNV), four homozygotes (0.19%) variants....
Background and Objectives OX40, a membrane‐bound molecule of the tumor‐necrosis‐factor‐receptor superfamily, is critical costimulatory receptor during immune response, especially to T cells, but studies described their presence OX‐40 on neutrophils monocytes, suggesting potential role in activation response. Our aim was characterize receptors OX40 expression circulating leukocytes gastric cancer identify novel targets for immunotherapy. Methods Peripheral blood mononuclear cells were...
Chemokines are chemotactic cytokines that mainly involved in the migratory patterns of immune cells. Few studies have evaluated levels chemokines children with acute bacterial infections. The aim this study was to evaluate serum MCP-1, RANTES, MIG and IP-10 sepsis, community-acquired pneumonia (CAP) skin abscess. Serum were measured 37 27 CAP, 25 abscess 20 controls no signs infection. Patients CAP had higher concentrations RANTES compared (P = 0.0057, P 0.0004 0.0108, respectively). values...
Despite advances in health care for sickle cell disease patients, as well the improvement reproductive issues mainly women with disease, pregnancy is still a challenge, both mother and child, high rates of maternal fetal morbidity mortality. Besides their chronic hemolytic status vaso-occlusive events that confer systemic complications, pregnant also have higher pain episodes, infections, abortion, intrauterine growth retardation, pre-term births, eclampsia, stillbirth hemolysis, elevated...
There is evidence that aldosterone plays a role in the pathogenesis of vascular calcification. The aim this study was to evaluate effect spironolactone, mineralocorticoid receptor antagonist, on progression coronary calcification (CC) peritoneal dialysis patients and identify factors involved progression.Thirty-three with calcium score (CCS) ≥ 30, detected through multi-detector computed tomography (MDCT) expressed Agatston units, were randomly assigned group receiving 25mg spironolactone...