Acta Medica Port
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Acute porphyrias are a group of rare genetic metabolic disorders, caused by a defect in one of the enzymes involved in the heme biosynthesis, which results in an abnormally high accumulation of toxic intermediates. Acute porphyrias are characterized by potentially life-threatening attacks and, for some patients, by chronic manifestations that negatively impact daily functioning and quality of life. Clinical manifestations include a nonspecific set of gastrointestinal, neuropsychiatric, and/or cutaneous symptoms. ⋯ Moreover, properly monitoring patients with acute porphyrias and their relatives is fundamental to preventing acute attacks, hospitalization, and long-term complications. Considering this, a multidisciplinary panel elaborated a consensus paper, aiming to provide guidance for an efficient and timely diagnosis of acute porphyrias, and evidence-based recommendations for treating and monitoring patients and their families in Portugal. To this end, all authors exhaustively reviewed and discussed the current scientific evidence on acute porphyrias available in the literature, between November 2022 and May 2023.
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Acute primary angle closure attack is an ophthalmological emergency. The aim of this study was to describe the cases diagnosed in the Emergency Department, by correlating the initial complaint with the Manchester triage level and ultimately the time needed until ophthalmological evaluation and iridotomy. ⋯ Most patients with acute primary angle closure attack were not properly triaged according to the level of the Manchester triage system. There was a significant delay in the diagnosis and treatment of those patients who were first assigned to non-ophthalmologists. There is a need to raise awareness regarding the presenting signs and symptoms of an acute primary angle closure attack in order to avoid preventable vision loss.
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Dysphagia is a prevalent condition (20%), and occurs more frequently in women and in older people. It negatively impacts innumerous aspects of patient's personal and professional lives. Patient-reported outcomes allow patients to directly quantify their experience regarding dysphagia and evaluate its true impact on quality of life. Among the scales available, Patient-Reported Outcomes Measurement Information System Gastrointestinal (PROMIS GI) Disrupted Swallowing stands out because it is a robust instrument that can be applied regardless of the type and etiology of dysphagia. The aim of this study was to translate, culturally adapt and validate PROMIS GI Disrupted Swallowing scale for the Portuguese-speaking population. ⋯ The Portuguese version of PROMIS GI Disrupted Swallowing scale presented conceptual, semantic, cultural and measurement equivalence relatively to the original items. The results attained demonstrated that the translation of this scale to Portuguese is reliable and valid for use both in clinical practice and for research purposes.