A5085136963- Folate and B Vitamins Research
- Pediatric Hepatobiliary Diseases and Treatments
- Metabolism and Genetic Disorders
- Porphyrin Metabolism and Disorders
- Intestinal Malrotation and Obstruction Disorders
- Amino Acid Enzymes and Metabolism
- Diet and metabolism studies
- Schizophrenia research and treatment
- Congenital Anomalies and Fetal Surgery
- Gallbladder and Bile Duct Disorders
- Cytomegalovirus and herpesvirus research
- History of Medical Practice
- Child Nutrition and Water Access
- Hormonal Regulation and Hypertension
- Pituitary Gland Disorders and Treatments
- Viral-associated cancers and disorders
- Growth Hormone and Insulin-like Growth Factors
- Anatomy and Medical Technology
- Organ Transplantation Techniques and Outcomes
- T-cell and Retrovirus Studies
- Connective tissue disorders research
- Retinoids in leukemia and cellular processes
- Pharmaceutical studies and practices
- Pharmacogenetics and Drug Metabolism
Universidade Federal do Rio Grande do Sul
2015-2023
Hospital de Clínicas de Porto Alegre
2017-2023
Abstract Background Biallelic pathogenic variants in CBS gene cause the most common form of homocystinuria, classical homocystinuria (HCU). The worldwide prevalence HCU is estimated to be 0.82:100,000 [95% CI, 0.39–1.73:100,000] according clinical records and 1.09:100,000 0.34–3.55:100,000] by neonatal screening. In this study, we aimed estimate minimal incidence HCU. Methods 25 alleles were identified through a literature review. was based on frequency these large genomic database (gnomAD)....
Abstract Background Classical homocystinuria ( HCU ) is a monogenic disease caused by the deficient activity of cystathionine β‐synthase (CβS). The objective this study was to identify CBS mutations in Brazilian patients with . Methods gDNA samples were obtained for 35 (30 families) biochemically confirmed diagnosis All exons and exon‐intron boundaries gene sequenced. Gene expression analysis qRT ‐ PCR performed six patients. Novel missense point expressed E. coli site‐directed mutagenesis....
Abstract Background Biliary atresia (BA) includes a sclerosing cholangiopathy whose nature is not fully deciphered. Aiming to evaluate the role of an arteriopathy as etiologic factor in BA, we investigated hypoxia and correlated angiogenic response livers from affected patients. Methods Gene expression molecular axis: hypoxia‐inducible ( HIF ) 1a , HIF2a vascular endothelial growth A VEGFA )/ VEGFR1 VEGFR2 . Liver biopsy specimens collected at exploratory laparotomy age‐matched patients with...
Genetic homocystinurias are a group of inborn errors metabolism that result in the massive excretion homocysteine (Hcy) urine due to Hcy accumulation body, usually causing neurological and cardiovascular complications. The three most frequent causes classical homocystinuria [deficiency cystathionine beta-synthase (CBS)], methylmalonic aciduria with homocystinuria, cblC type (cblC deficiency) severe methylenetetrahydrofolate reductase (MTHFR) deficiency. In this review, we highlight...
Purpose: This work was designed to identify the pharmacogenetic profile of Brazilian psychiatric patients receiving psychoactive drug treatment according ethnicity. Methods: Based on GnTech® database, this cross-sectional study analyzed data from self-reported sociodemographic and genetic results next-generation sequencing panel composed 26 pharmacogenes 359 psychotropic users. Results: Variant frequencies multiple presented differences between ethnicities (CYP3A5, CYP2D6, CYP1A2, CYP2B6,...
This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. was cross-sectional, observational including and biochemical data from 72 patients (60 families) Brazil (South, n = 13; Southeast, 37; Northeast, 8; North, 1; Midwest, 1). Parental consanguinity reported 42% families. Ocular manifestations were the earliest detected symptom (53% cases), main reason for diagnostic suspicion (63% most prevalent manifestation at diagnosis (67% cases). Pyridoxine...
Biliary atresia (BA) seems to be a multifactorial disorder in which environmental factors interact with the patient's genetic constitution.This study aimed analyze information concerning risk associated BA southern Brazil.A case-control mothers of patients and cystic fibrosis (CF) was conducted.Inquiry included questions related exposition during periconceptional gestational (second third trimesters) periods.Mothers had smoked pregnancy more frequently comparison CF patients, but no...
Hyperhomocysteinemia and vitamin B12 deficiency have been reported in patients with phenylketonuria. In this study, total homocysteine (tHcy) methylmalonic acid (MMA) levels were analyzed samples from 25 phenylketonuria (PKU) patients. Comparisons made between pre- post-treatment values (n= 3); on treatment values, periods high normal/low phenylalanine (Phe) 20); women before, during after pregnancy 3). THcy decreased treating PKU metabolic formula (p=0.014). Except for a pregnant woman...