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Prenatal Diagnosis of Cartilage-Hair Hypoplasia: A Narrative Review

Portela Carvalho, Catarina; Alves, Inês; Lemos, Carolina; Guedes-Martins, Luís

Cartilage-hair hypoplasia is a rare autosomal recessive skeletal dysplasia. It is particularly prevalent in the Finnish and Amish populations but increasing reports have been documented worldwide. It is caused by pathogenic variants in the RMRP gene. The clinical presentation is highly variable and may include short-limbed short stature, metaphyseal abnormalities, hypotrichosis, and immune deficiency, among oth...

Date: 2026   |   Origin: Acta Médica Portuguesa

The role of gastrostomy and noninvasive ventilation in primary lateral sclerosis

Oliveira Santos, Miguel; Domingues, Sara; Simão, Sara; Gromicho, Marta; Alves, Inês; Carvalho, Mamede

Introduction/aims: Literature on the role of gastrostomy and noninvasive ventilation (NIV) in primary lateral sclerosis (PLS) is limited. We aim to investigate whether PLS patients develop dysphagia requiring feeding tubes or respiratory failure necessitating NIV. Methods: We conducted a retrospective study of PLS patients with a definite diagnosis followed at our center (1994-2024). Patients with marked dyspha...


Alterations in mucosa branched N-glycans lead to dysbiosis and downregulation o...

Rodrigues, Cláudia S.; Gaifem, Joana; Pereira, Márcia S.; Alves, Maria Francisca; Silva, Mariana; Padrão, Nuno; Cavadas, Bruno

The perturbation of the symbiotic relationship between microbes and intestinal immune system contributes to gut inflammation and Inflammatory Bowel Disease (IBD) development. The host mucosa glycans (glycocalyx) creates a major biological interface between gut microorganisms and host immunity that remains ill-defined. Glycans are essential players in IBD immunopathogenesis, even years before disease onset. Howe...


Impacto Físico e Psicológico na Vida de um Cuidador Informal

Alves, Inês; Pinto, Jorge; Rego, Maria Inês; Marcos, Miriam; Costa, Nuno; Conde, Samuel; Ribeiro, Andrea Miguel

Introdução: Os cuidadores informais desempenham um papel crucial na prestação de cuidados a indivíduos com doenças crónicas ou incapacidades. Esta tarefa pode gerar uma sobrecarga física e psicológica significativa, impactando negativamente a qualidade de vida dos cuidadores.


Relatório de Estágio Curricular – Guarda Nacional Republicana (Lisboa)

Alves, Inês

O presente relatório de estágio visa a obtenção do diploma da Licenciatura em Comunicação Multimédia da Escola Superior de Educação, Comunicação e Desporto do Instituto Politécnico da Guarda. O estágio foi desenvolvido na Divisão de Comunicação e Relações-Públicas (DCRP), no Comando-Geral da Guarda Nacional Republicana (GNR), o qual teve como principal objetivo colocar em prática todos os conhecimentos adquirid...


Predicting clinical events characterizing the progression of amyotrophic latera...

Guazzo, Alessandro; Atzeni, Michele; Idi, Elena; Trescato, Isotta; Tavazzi, Erica; Longato, Enrico; Manera, Umberto; Chió, Adriano; Gromicho, Marta

Background: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that results in death within a short time span (3-5 years). One of the major challenges in treating ALS is its highly heterogeneous disease progression and the lack of effective prognostic tools to forecast it. The main aim of this study was, then, to test the feasibility of predicting relevant clinical outcomes that char...


Endoscopic Vein Harvesting – How Do We Do It?

Veiga Oliveira, Paulo; Madeira, Márcio; Alves, Inês; Ranchordás, Sara; Pedro Neves, José

The saphenous vein graft (SVG) remains the most used conduit as a second graft in Coronary Artery Bypass Grafting (CABG).1 Traditionally, surgeons harvest SVG with an open approach, making a long incision along the medial part of the leg or thigh. This procedure can potentially result in important complications, such as delayed wound healing, postoperative pain and infection.2 Thus, less invasive techniques for...


SGLT2 Inhibitors: Novel approach to modulate appetite hormones and cardiomyocyt...

Correia, Beatriz; Rodrigues, Alexandre; Alves, Inês; Moraña-Fernández, Sandra; Mendes, Claúdia; Morais, Juliana; Gonçalves, Alexandre

Emerging as a class of oral antidiabetic drugs, sodium-glucose cotransporter 2 inhibitors (SGLT2i), used in patients with type 2 diabetes, offer promising results in weight loss, decreasing cardiometabolic biomarkers, thus improving overall cardiac function. The aim of this study is to assess whether SGLT2i can impact food and water consumption, hormone regulating appetite mechanisms, and morphologic parameters...


The cardiometabolic impact of rebaudioside a exposure during the reproductive s...

Bracchi, Isabella; Morais, Juliana; Coelho, João Almeida; Ferreira, Ana Filipa; Alves, Inês; Mendes, Cláudia; Correia, Beatriz; Gonçalves, Alexandre

Since foods rich in refined sugars promote obesity, the use of non-caloric sweeteners has gained popularity, and their consumption by pregnant women has increased. Stevia (a non-caloric sweetener) consumption was considered safe for humans by the European Food Safety Authority in a dose of up to 4 mg/kg body weight/day. However, the World Health Organization recommended in 2023 the restraint of these sweeteners...


Reusing Coir-Based Substrates for Lettuce Growth: Nutrient Content and Phytonut...

Machado, Rui M.A.; Alves-Pereira, Isabel; Alves, Inês; Ferreira, Rui M. A.; Gruda, Nazim S.

This research aimed to assess the influence of reusing coir-based substrates on growth, nutrient content, and phytonutrients accumulation in lettuce. The experiment included a new coir pith and four coir-based mixes (1) coir, biochar, and perlite; (2) coir, compost, and perlite; (3) coir, biochar, and pine bark; and (4) coir, compost, and pine bark. All mixes had been previously utilized to grow transplanted sp...


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