A5005701286- Folate and B Vitamins Research
- Metabolism and Genetic Disorders
- Diet and metabolism studies
- Nutritional Studies and Diet
- Nutrition and Health in Aging
- Amino Acid Enzymes and Metabolism
- Consumer Attitudes and Food Labeling
- Porphyrin Metabolism and Disorders
- Glycogen Storage Diseases and Myoclonus
- Obesity, Physical Activity, Diet
- Growth Hormone and Insulin-like Growth Factors
- Fatty Acid Research and Health
- Carbohydrate Chemistry and Synthesis
- Nutrition, Genetics, and Disease
- Peroxisome Proliferator-Activated Receptors
- Child Nutrition and Feeding Issues
- Connective tissue disorders research
- Thermoregulation and physiological responses
- Diet, Metabolism, and Disease
- Healthcare Regulation
- Body Composition Measurement Techniques
- Sodium Intake and Health
- Clinical Nutrition and Gastroenterology
- Breastfeeding Practices and Influences
- Esophageal and GI Pathology
Hospital de Clínicas de Porto Alegre
2012-2024
Universidade Federal do Rio Grande do Sul
2012-2024
Fundação Universitária de Cardiologia
2019-2023
Impact
2020
Hospital Universitário da Universidade Federal do Maranhão
2019
Appropriate dietary recommendations represent a key part of secondary prevention in cardiovascular disease (CVD). We evaluated the effectiveness implementation nutritional program on quality diet, events, and death patients with established CVD.In this open-label, multicenter trial conducted 35 sites Brazil, we randomly assigned (1:1) aged 45 years or older to receive either BALANCE Program (experimental group) conventional nutrition advice (control group). The included unique education...
Resumo Fundamento: A adesão à uma alimentação adequada em macronutrientes é fundamental para a prevenção secundária de doenças cardiovasculares. Objetivo: Avaliar prevalência às recomendações consumo ácidos graxos e tratamento cardiovasculares, estimar se presença determinados fatores risco cardiovascular estaria associada adesão. Métodos: Estudo transversal com os dados linha base 2358 participantes do estudo "Brazilian Cardioprotective Nutritional Program Trial". Dados alimentar, foram...
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....
Classical homocystinuria is a rare genetic disease caused by cystathionine β-synthase deficiency, resulting in homocysteine accumulation. Growing evidence suggests that reduced fat mass patients with classical may be associated alterations choline and pathways. This study aimed to evaluate the body composition of homocystinuria, identifying changes percentage correlating findings biochemical markers pathways, lipoprotein levels bone mineral density (BMD) T-scores.Nine were included study....
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...
Background: In phenylketonuria (PKU), only a limited range of natural foods, such as fruits, vegetables, oils and sugars, can be consumed without restrictions. The present study aimed to if food neophobia (i.e. an unwillingness eat novel food) occurs in patients with PKU compare non-PKU healthy controls identify any associated factors. Methods: This cross-sectional case-control used convenience sampling strategy recruit diagnosed matched by gender age. Patients were invited complete the...
This study aimed to describe the current practices in diagnosis and dietary management of phenylketonuria (PKU) Latin America, as well main barriers treatment. We developed a 44-item online survey at health professionals. After pilot test, final version was sent 25 practitioners working with inborn errors metabolism (IEM) 14 countries. Our results include 22 centers 13 Most countries (12/13) screened newborns for PKU. Phenylalanine (Phe) targets different ages were very heterogeneous among...
Objectives: Disorders of amino acid metabolism fall under the category inborn errors that can be managed with a protein-restricted diet. However, adherence to such diet often poses challenges, leading low treatment engagement. Consequently, there is pressing need for new resources aid in dietary self-monitoring. The goal develop and implement “AminoApp,” an application tailored self-monitoring patients who are on low-protein diet.Methods: design development adhered user-centered method. This...
The association between bone mineral density (BMD) and hepatic glycogen storage diseases (GSDs) is still unclear. To evaluate the BMD of patients with GSD I, IIIa IXα, a cross-sectional study was performed, including 23 (GSD Ia = 13, Ib 5, 2 IXα 3; median age 11.9 years; IQ 10.9–20.1) who underwent dual-energy X-ray absorptiometry (DXA). Osteocalcin (OC, n 18), procollagen type 1 N-terminal propeptide (P1NP, 19), collagen C-terminal telopeptide (CTX, 18) 25-OH Vitamin D (n 23) were also...
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...
Massive sequencing platforms allow the identification of complex clinical phenotypes involving more than one autosomal recessive disorder. In this study, we report on an adult patient, born to a related couple (third degree cousins), referred for genetic evaluation due ectopia lentis, deafness and previous diagnosis juvenile idiopathic arthritis. He was biochemically diagnosed as having Classic Homocystinuria (HCU); Sanger CBS gene showed genotype NM_000071.2(CBS):c.[833T>C];[833T>C],...
Background: Adhering to a diet adequate in macronutrients is crucial for the secondary prevention of cardiovascular diseases. Objective: To assess prevalence adherence recommendations consumption dietary fatty acids and treatment diseases estimate whether presence certain risk factors would be associated with adherence. Methods: Cross-sectional study using baseline data from 2,358 participants included "Brazilian Cardioprotective Nutritional Program Trial". Dietary intake were assessed....
Abstract Background Glycogen storage disease type Ia (GSD-Ia) is one of the most common hepatic GSD. Its treatment mainly consists a diet including high intake slow-digestion carbohydrates such as raw cornstarch and restriction simple sugars. This enables maintenance euglycemia prevents secondary metabolic disorders. Starch glucose polymer formed by amylose amylopectin, which can be obtained from distinct sources. Although uncooked has been successfully used in GSD-Ia, it lead to...
Patients with phenylketonuria (PKU) have a highly restrictive diet, which involves restriction of phenylalanine (Phe) intake and daily use Phe-free metabolic formula. However, little is known about the potential impact this diet on chemical senses. The present study aimed to evaluate olfactory gustatory perceptions patients PKU. A cross-sectional controlled included PKU dietary treatment healthy controls was performed. Olfactory perception assessed using 12-item
Background: In phenylketonuria (PKU), only a limited range of natural foods, such as fruits, vegetables, oils and sugars, can be consumed without restrictions. The present study aimed to if food neophobia (i.e. an unwillingness eat novel food) occurs in patients with PKU compare non-PKU healthy controls identify any associated factors. Methods: This cross-sectional case-control used convenience sampling strategy recruit diagnosed matched by gender age. Patients were invited complete the...