A5059518439- Metabolism and Genetic Disorders
- Diet and metabolism studies
- Mitochondrial Function and Pathology
- Renal Transplantation Outcomes and Treatments
- Folate and B Vitamins Research
- Organ Donation and Transplantation
- Nutrition and Health in Aging
- Amino Acid Enzymes and Metabolism
- Muscle metabolism and nutrition
- Healthcare Regulation
- Neonatal Health and Biochemistry
- Renal and Vascular Pathologies
- Clinical Nutrition and Gastroenterology
- Body Composition Measurement Techniques
- Physical Education and Gymnastics
- Diabetes Treatment and Management
- Organ Transplantation Techniques and Outcomes
- Healthcare during COVID-19 Pandemic
- Biochemical and Molecular Research
- Health, Education, and Aging
- Transplantation: Methods and Outcomes
- Potassium and Related Disorders
- Health, Nursing, Elderly Care
- Obesity, Physical Activity, Diet
- Pancreatic function and diabetes
Universidade do Porto
2014-2025
Administração Regional de Saúde de Lisboa e Vale do Tejo
2024-2025
INESC TEC
2024
Hospital de Santo António
2014-2024
Centro Hospitalar do Porto
2014-2023
Centro de Genética Clínica
2000-2021
Universidade de São Paulo
2012-2016
Institute of Biomedical Science
2015
Hospital de Magalhães Lemos
2010-2013
Instituto Nacional de Saúde
2011
Special low protein foods (SLPF) are essential in the nutritional management of patients with phenylketonuria (PKU). The study objectives were to: 1) identify number SLPF available for use eight European countries and Turkey 2) analyse composition one these countries. Nutritionist Expert Panel on PKU (ENEP) members (Portugal, Spain, Belgium, Italy, Germany, Netherlands, UK, Denmark Turkey) provided data SPLF each country. Portuguese was compared regular food products. different country...
Este trabalho teve como objetivo avaliar a eficácia da cirurgia ortognática no tratamento apneia obstrutiva do sono (AOS), com foco na redução índice de apneia-hipopneia (IAH) e melhoria qualidade vida dos pacientes. Para isso, foi realizada uma revisão bibliográfica sistemática literatura, inclusão estudos clínicos, coorte séries casos disponíveis nas principais bases dados científicas, PubMed, Scopus Cochrane Library. A análise abrangeu 15 selecionados, que apresentaram sobre os efeitos em...
Background: Numerous studies have shown that hypovitaminosis D is linked to adverse maternal and infant health outcomes, such as intrauterine growth restriction, preeclampsia, cholestasis, hypertension, gestational diabetes, all of which are potential causes prematurity. Recognizing the significance this issue its impact on maternal-infant health, VitDTracking research project was designed registered 4 March 2024, in ClinicalTrials.gov database (Identifier: NCT06292195). The includes a...
Este artigo investiga os desafios e as possibilidades da inclusão de estudantes com Transtorno do Espectro Autista (TEA) no contexto educação regular, foco nas práticas pedagógicas adotadas para garantir uma inclusiva efetiva. A pesquisa tem como objetivo identificar barreiras encontradas pelos alunos TEA escolas analisar estratégias utilizadas superá-las. Para alcançar esse objetivo, foi realizada revisão bibliográfica base em artigos científicos, livros estudos caso que abordam a Brasil,...
In PKU there is little data comparing the prevalence of overweight and obesity in different countries. The aim this cross sectional study was to evaluate from treatment centres Europe Turkey. children, body mass index (BMI) z scores adults BMI were calculated 947 patients (783 children aged < 19 years; 164 ≥ years) with Turkey (Ankara, Birmingham, Brussels, Copenhagen, Groningen, Madrid, Munich Porto). PKU, 83% (n = 5/6) had less than general populations but a higher rate female obesity....
Background: In 2011, a European phenylketonuria (PKU) survey reported that the blood phenylalanine (Phe) levels were well controlled in early life but deteriorated with age. Other studies have shown similar results across globe. Different target Phe been used throughout years, and, 2017, PKU guidelines defined new targets for levels. This study aimed to evaluate control patients Europe. Methods: nine centres managing Europe and Turkey participated. Data collected retrospectively from medical...
<i>Background/Aims:</i> The neurological sequelae resulting from untreated phenylketonuria are diminished by the success of early introduced and continued dietary treatment. Nowadays, nutritional status is gaining importance in follow-up these patients. aim this work was to study relevance prealbumin concentration as biomarker protein phenylketonuric <i>Methods:</i> We collected data 69 patients on food intake, blood phenylalanine concentrations. Protein insufficiency...
The aim of the present study was to analyze anthropometric changes in a home-based cohort Brazilian older adults who participated SABE Survey, conducted 2000 and 2006. A total 1030 men women were examined by age group: 60–69, 70–79, ≥80 years. This representative sample consists survivors cohort. following variables assessed: body mass, arm muscle, waist calf circumferences, triceps skinfold thickness, mass index, waist-hip ratio, muscle area according mean values percentile distribution....
In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management. To describe European practice regarding the IVA, prior to availability E-IMD IVA guidelines (E-IMD 2014). A cross-sectional questionnaire was sent all dietitians who were either members Society for Study Inborn Errors Metabolism Dietitians Group (SSIEM-DG) or whom had responded previous questionnaires on (n = 53). The comprised 27 questions IVA....
The definitive dietary management of propionic acidaemia (PA) is unknown although natural protein restriction with adequate energy provision key importance. To describe European practices in the patients PA prior to publication guidelines. This was a cross-sectional survey consisting 27 questions about circulated IMD dietitians and health professionals 2014. Information on restricted diets 186 from 47 centres, representing 14 countries collected. Total intake [PA precursor-free L-amino acid...
In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination a Phe-free order to maintain blood Phe levels within target range. Professionals use different methods feed PKU our survey aimed document practices across Europe.We sent cross sectional, monkey® questionnaire European health professionals working IMD. It contained 31 open multiple-choice questions. The results were...
Phenylalanine (Phe) tolerance is highly variable in phenylketonuria (PKU) and rarely described patients aged ≥12 years. Patients years of age with PKU were systematically challenged additional natural protein (NP) if blood Phe levels remained below 480 µmol/L (i.e., upper target level for using Portuguese guidelines). In patients, NP was calculated at baseline a median 6 months after systematic challenge whilst maintaining ≤480 μmol/L. Anthropometry assessed both times. Routine collected. We...
Abstract Background In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid (L-AA). However, studies focusing on long-term nutritional status of CGMP-AA lacking. This retrospective study evaluated impact over a mean 29 months in 11 patients with age at onset 28 years (range 15–43) [8 females; 2 hyperphenylalaninaemia (HPA), 3 mild PKU, classical PKU and late-diagnosed]. Outcome...
Blood phenylalanine (Phe) is used as the primary marker to evaluate metabolic control. Our study aimed describe control of patients with phenylketonuria (PKU) comparing three different treatment recommendations (European guidelines/US guidelines/Portuguese consensus). This was a retrospective, observational, single centre in PKU collecting data on blood Phe levels from 2017. Nutritional intake and sapropterin (BH4) prescription were collected at last appointment The final sample studied...
Objetivos: A incidência de diabetes pós-transplante e o aumento do risco cardiovascular entre os receptores transplante estão em ascensão. Os agonistas receptor peptídeo semelhante ao glucagon têm potencial mitigar efeitos dos medicamentos imunossupressores, abordando tanto a hiperglicemia quanto peso, que torna atrativos para uso nesta população, dadas as suas vantagens cardiovasculares renoprotetoras. No entanto, evidência atual é insuficiente sobre sua eficácia renal diabéticos (RTRD)....