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Protein intake and prevalence of overweight in patients with phenylketonuria: A...

Rodrigues, C; Barbosa, CS; de Almeida, MF; Bandeira, A; Martins, E; Rocha, S; Guimas, A; Ribeiro, R; Soares, A; Moreira-Rosário, A; Dias, CC

Background: Overweight has been identified as a comorbidity associated with phenylketonuria (PKU). A systematic review with meta-analysis found that although patients with PKU had a similar body mass index (BMI) when compared to non-PKU controls, there was a significantly higher BMI when measured in patients described as having classical PKU. Objective: The aim of this retrospective longitudinal study was to id...


Case report: Primary CDK4/6 inhibitor and endocrine therapy in locally advanced...

Vilhais, G; Alpuim Costa, D; Fontes-Sousa, M; Ribeiro, PC; Martinho, F; Botelho de Sousa, C; Santos, CR; Negreiros, I; Canastra, A; Borralho, P

Locally advanced breast cancer poses significant challenges to the multidisciplinary team, in particular with hormone receptor (HR) positive, HER2- negative tumors that classically yield lower pathological complete responses with chemotherapy. The increasingly significant use of CDK 4/6 inhibitors (CDK4/6i) plus endocrine therapy (ET) in different breast cancer settings has led to clinical trials focusing on th...

Date: 2024   |   Origin: Hospital de Cascais

Body Composition Evaluation and Clinical Markers of Cardiometabolic Risk in Pat...

Luengo-Pérez, LM; Fernández-Bueso, M; Ambrojo, A; Guijarro, M; Ferreira, AC; Pereira-da-Silva, L; Moreira-Rosário, A; Faria, A; Calhau, C; Daly, A

Cardiovascular diseases are the main cause of mortality worldwide. Patients with phenylketonuria (PKU) may be at increased cardiovascular risk. This review provides an overview of clinical and metabolic cardiovascular risk factors, explores the connections between body composition (including fat mass and ectopic fat) and cardiovascular risk, and examines various methods for evaluating body composition. It parti...


Unveiling the Metabolic Effects of Glycomacropeptide

Pena, MJ; Costa, R; Rodrigues, I; Martins, S; Guimarães, JT; Faria, A; Calhau, C; Rocha, JC; Borges, N

For many years, the main nitrogen source for patients with phenylketonuria (PKU) was phenylalanine-free amino acid supplements. Recently, casein glycomacropeptide (GMP) supplements have been prescribed due to its functional and sensorial properties. Nevertheless, many doubts still persist about the metabolic effects of GMP compared to free amino acids (fAA) and intact proteins such as casein (CAS). We endeavour...


Vitamin D-related polymorphisms and vitamin D levels as risk biomarkers of COVI...

Freitas, AT; Calhau, C; Antunes, G; Araújo, B; Bandeira, M; Barreira, S; Bazenga, F; Braz, S; Caldeira, D; Santos, SCR; Faria, A; Faria, D; Fraga, M

Vitamin D is a fundamental regulator of host defences by activating genes related to innate and adaptive immunity. Previous research shows a correlation between the levels of vitamin D in patients infected with SARS-CoV-2 and the degree of disease severity. This work investigates the impact of the genetic background related to vitamin D pathways on COVID-19 severity. For the first time, the Portuguese populatio...


Unveiling the Metabolic Effects of Glycomacropeptide

Pena, MJ; Costa, R; Rodrigues, I; Martins, S; Guimaraes, JT; Faria, A; Calhau, C; Rocha, JC; Borges, Nuno

For many years, the main nitrogen source for patients with phenylketonuria (PKU) was phenylalanine-free amino acid supplements. Recently, casein glycomacropeptide (GMP) supplements have been prescribed due to its functional and sensorial properties. Nevertheless, many doubts still persist about the metabolic effects of GMP compared to free amino acids (fAA) and intact proteins such as casein (CAS). We endeavour...


Gut Microbiota Diversity and C-Reactive Protein Are Predictors of Disease Sever...

Moreira-Rosário, A; Marques, C; Pinheiro, H; Araújo, JR; Ribeiro, P; Rocha, R; Mota, I; Pestana, D; Ribeiro, R; Pereira, A; Sousa, MJ; Pereira-Leal, J

The risk factors for coronavirus disease 2019 (COVID-19) severity are still poorly understood. Considering the pivotal role of the gut microbiota on host immune and inflammatory functions, we investigated the association between changes in the gut microbiota composition and the clinical severity of COVID-19. We conducted a multicenter cross-sectional study prospectively enrolling 115 COVID-19 patients categoriz...


Continuous use of glycomacropeptide in the nutritional management of patients w...

Pena, MJ; Pinto, A; de Almeida, MF; Barbosa, CD; Ramos, PC; Rocha, S; Guimas, A; Ribeiro, R; Martins, E; Bandeira, A; Dias, CC; MacDonald, A

Background In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA). However, studies focusing on the long-term nutritional status of CGMP-AA are lacking. This retrospective study evaluated the long-term impact of CGMP-AA over a mean of 29 months in 11 patients with a mean age at CGMP-...


Weaning Practices in Phenylketonuria Vary Between Health Professionals in Europe

Pinto, A; Adams, S; Ahring, K; Allen, H; Almeida, MF; Garcia-Arenas, D; Arslan, N; Assoun, M; Atik Altınok, Y; Barrio-Carreras, D; Belanger Quintana, A

In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6 months to replace Phe-free infant formula. ...


Early Feeding Practices in Infants with Phenylketonuria Across Europe

Pinto, A; Adams, S; Ahring, K; Allen, H; Almeida, MF; Garcia-Arenas, D; Arslan, N; Assoun, M; Atik Altınok, Y; Barrio-Carreras, D; Belanger Quintana, A

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 with a Phe-free infant formula in order to maintain blood Phe levels within target range. Professionals use different methods to feed infants with PKU and our survey aimed to document practices across Europe.


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