22 documents found, page 1 of 3
Wieacker-Wolff syndrome - A rare X-linked hereditary disorder
Dias, João; Martins, Cecília; Soares, Ana Rita; Gonçalves-Rocha, Alexandra M; Rocha, FelisbelaWieacker-Wolff syndrome (WWS) is an X-linked disorder caused by a pathogenic mutation in the ZC4H2 gene. It affects both the central and peripheral nervous systems. The authors describe the case of a six-year-old boy with global developmental delay since the age of four months, with marked axial hypotonia. He had a history of bilateral clubfoot, feeding difficulties, and recurrent respiratory infections. Physic...
Developing and evaluating a Portuguese-language meditation App for medical stud...
Soares, Ana Rita; Soares, Sandra; Brandão, Tânia; Teixeira, Ricardo João; Tavares, IsauraThe well-being of medical students is affected by high stress levels. The relevance of a mindfulness mediation app (Med@Med) specifically produced to help medical students at a Portuguese medical school cope with stress was evaluated. The app, consisting of 21 short meditations, was totally developed in Portuguese to fulfill with the needs of some of the students. The motivations to use the app, adherence to it...
Bioethics in Genetics: between science and art
Soares, Ana Rita; Carvalho, Ana SofiaMedical Genetics is a transversal and multidisciplinary medical speciality whose activity encompasses, in a general and simplistic perspective, the diagnosis of rare genetic diseases and genetic counselling of hereditary pathologies. Genetic information is, more than medical information, health information and it has implications not only for the self but also for family members. Although this medical specializ...
Ambiguous Genitalia: An Unexpected Diagnosis in a Newborn
Losa, Ana; Da Silva Cardoso, Juliana; Leite, Sara; Barros, Ana Cristina; Guedes, Ana; Rodrigues, Cidade; Borges, Teresa; Oliva-Teles, NatáliaAlterations in gonad formation or function can lead to congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. These conditions are referred to as disorders of sex development (DSD) and have a heterogeneous etiology. The assessment of these children by a multidisciplinary team is crucial for an accurate diagnosis and should be initiated promptly due to the potentially life-threatenin...
Epidemiological, social and economic burden of severe hypoglycaemia in patients...
Soares, Ana Rita; Coelho, Marisa; Tracey, Marsha; Carvalho, Davide; Silva-Nunes, JoséIntroduction: The aim of this review was to identify and review studies reporting on the epidemiological, social, and economic impact associated with severe hypoglycemia (SH) in people with diabetes mellitus (DM) in Portugal. Methods: A structured literature search was carried out in PubMed and Embase using a predefined selection criterion. Studies published in either Portuguese or English, between January 2010...
Preparation of 3D Decellularized Matrices from Fetal Mouse Skeletal Muscle for ...
Rodrigues, Gabriela; Thorsteinsdottir, Solveig; Soares, Ana Rita; Gameiro dos Santos, PedroThe extracellular matrix (ECM) plays a crucial role in providing structural support for cells and conveying signals that are important for various cellular processes. Two-dimensional (2D) cell culture models oversimplify the complex interactions between cells and the ECM, as the lack of a complete three-dimensional (3D) support can alter cell behavior, making them inadequate for understanding in vivo processes....
More Than Just a Torticollis: A Klippel-Feil Syndrome Case Report
Lorenzo, Joana; Maio, Inês; Soares, Ana Rita; Tavares, Susana; Fortuna, AnaIntroduction: Although often benign, the torticollis may be the manifestation of a serious disease, such as Klippel-Feil syndrome. We report a pediatric clinical case of an isolated form of Klippel-Feil syndrome. Case Report: A six-month-old male infant, whose previous history is restricted to a sacrococcygeal dimple, developed limitation of cervical mobility, presenting with short neck, low implementation of ...
Mosaic trisomy 22 in a 14-year-old adolescent: A case report
Cunha, Sara Monteiro; Meireles, Daniel; Figueiredo, Catarina; Soares, Ana Rita; Freitas, Joana; Oliveira, Maria João; Borges, TeresaIntroduction: Complete trisomy 22 is the second most common chromosomal aneuploidy found in spontaneous abortions. However, mosaic trisomy 22 has a mild phenotype, being compatible with life. The varied manifestations of trisomy depend on the distribution of the affected cells, making this diagnosis difficult. Case report: A 14-year-old adolescent was observed for primary amenorrhea. On physical examination, mi...
Perturbações de ansiedade na infância – a perceção das crianças e dos pais
Barroca, Inês; Riggi, Giullia; Pinto, Ana; Fong, Paula; Reis, Rosália; Pereira, Paulo; Soares, Ana Rita; Dieudonné, Volker; Maia, GeorginaAs perturbações de ansiedade estão entre as condições psiquiátricas da infância e adolescência mais comuns, condicionando uma redução do funcionamento global da criança, a nível académico, familiar e social, assim como um risco aumentado para patologias psiquiátricas comórbidas ao longo de toda a sua vida. O objetivo do presente estudo foi comparar a perceção das crianças e dos seus pais em relação à prevalênci...
PERTURBAÇÕES DE ANSIEDADE NA INFÂNCIA – A PERCEÇÃO DAS CRIANÇAS E DOS PAIS
Barroca, Inês; Riggi, Giullia; Pinto, Ana; Fong, Paula; Reis, Rosália; Pereira, Paulo; Soares, Ana Rita; Dieudonné, Volker; Maia, GeorginaAs perturbações de ansiedade estão entre as condições psiquiátricas da infância e adolescência mais comuns, condicionando uma redução do funcionamento global da criança, a nível académico, familiar e social, assim como um risco aumentado para patologias psiquiátricas comórbidas ao longo de toda a sua vida. O objetivo do presente estudo foi comparar a perceção das crianças e dos seus pais em relação à prevalênci...