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Percorrer IV. Entidades Cooperantes por Objetivos de Desenvolvimento Sustentável (ODS) "04:Educação de Qualidade"
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- Description of the Hamburg Alexander Leukodystrophy Cohort—Insights into Practical Classification and the Care SituationPublication . Kokaly, Nadia; Guerreiro, Helena; Bredow, Janna; Dreha-Kulaczewski, Steffi; Ohlenbusch, Andreas; Köhler, Wolfgang; Reinhardt, Tabea; Schön, Gerhard; Volk, Alexander E.; Sigel, Helen; Bley, AnnetteBackground: Alexander disease (AxD) is a rare severe leukodystrophy that has no cure to date. A pathogenic gain-of-function variant in the GFAP gene affects the astrocytes and subsequently the function of the white matter in the CNS. Methods: We retrospectively analyzed the most frequent symptoms of nine AxD cases, classified them according to published classifications, and described the need of care and support. Results: The description of the courses of disease of nine cases with AxD reflects the broad spectrum of different phenotypes of AxD, with often occurring apnoea. Data about care and support for AxD patients indicate a high and heterogeneous need of support. Treatment with steroids reduced symptoms in two patients. Some patients showed lasting improvement during their course of disease. Conclusions: The course of AxD is very heterogeneous. Thus, we extracted relevant key features to describe the severity of the disease, namely feeding problems, epilepsy, age-appropriate motor function, failure to thrive, age-appropriate language and apnoea. We recommend early evaluation for clinical care and support. For some AxD patients, treatment with steroids may alleviate symptoms. Further development of efficient treatments is necessary
- Functional respiratory re-education interventions in people with respiratory disease: a systematic literature reviewPublication . Dias, Pedro Miguel Martins; Teixeira, Helena Margarida dos Santos; Palma, Magali Cavaco; Messias, Patrícia Alexandra Lopes; Vieira, João Vítor da Silva; Ferreira, Rogério Manuel FerrinhoObjectives: to identify nursing interventions in rehabilitation, within the scope of functional respiratory reeducation, which allow a respiratory function improvement in people with respiratory disease. Methods: systematic literature review using the MEDLINE database search, adopting the PICO mnemonic and the Joanna Briggs Institute’s assessment of the level of evidence and methodological quality. The search for randomized controlled trials was carried out in June 2021 considering the period from 2015 to 2020, in English or Portuguese. Results: a sample of nine randomized controlled trials with methodological quality was obtained which highlighted the use of positive expiratory pressure devices as an important component and intervention for respiratory functional reeducation. Conclusions: nursing interventions in rehabilitation with an emphasis on functional respiratory reeducation are essential, showing improvements in people’s general health.
- Home mechanical ventilation in adults: clinical practice recommendations from the Portuguese respiratory society home mechanical ventilation assemblyPublication . Ribeiro, Carla; Gomes, Rita; Carreiro, Alexandra; Vieira, Ana Luísa; Seabra, Bárbara; Conde, Bebiana; Nogueira, Carla; Jácome, Cristina; Lages, Joana; Aguiar, Margarida; Grafino, Mónica; Pamplona, Paula; Cysneiros, Ana; Durães, Célia; Rodrigues, Cidália; Pimenta, Cidália; Cristóvão, Cristina; Rodrigues, Daniela; Ferreira, Diva; Gonçalves, Filipe; helena Chaves Ramos; Cravo, João; Silva, João Paulo; da Silva Cunha Granatin, Karl Jonathan; Méndez, Lucía; Zeller, Mafalda Van; Araújo, Márcia; Barata, Margarida; Raposo, Margarida; Redondo, Margarida; Jacob, Maria; Araújo, Maria João; Gonçalves, Miguel R.; Guia, Miguel; Faria, Nuno; Viegas, Pedro; Conde, Sara; Drummond, Marta; Pinto, PaulaBackground: The use of home mechanical ventilation (HMV) has been increasing worldwide, driven by widening of clinical applications and improved patient survival rates. In Portugal, recent data indicate an even faster growth, although national HMV recommendations have remained unchanged for 25 years. Research question: We aimed to provide an update in clinical practice guidelines for HMV in adults, applicable to the Portuguese context, grounded on the latest available evidence and experts' opinion. Study design and methods: A multidisciplinary panel with experience in HMV in the adult population was assembled. A comprehensive literature search was conducted during March 2023 regarding specific topics: equipment, ventilatory modes and interfaces, HMV initiation, follow-up and monitoring, disease specificities (neuromuscular diseases, obesity-hypoventilation syndrome, restrictive chest wall diseases; chronic obstructive pulmonary disease, and other diseases), home mechanical invasive ventilation, and palliative and end of life care. A 2-round Delphi process was conducted to establish consensus among panel members. A minimum agreement threshold of 80% was required. Results: Out of 88 recommendations initially included in the Delphi process, 61 were selected by consensus. Conclusion: Final recommendations grounded in the current level of evidence are outlined, and the key limitations and proposals for future research are discussed.
- Impact of bariatric and metabolic surgery on sarcopenia-related parameters according to the EWGSOP2 consensus criteria in persons living with obesityPublication . Cardoso, Paulo Alexandre e Castro; Santos, Tânia V.; Ramon-Krauel, Marta; Pais, Sandra; De Sousa-Coelho, Ana LuísaAlthough bariatric and metabolic surgery (BS) has proved effective in the treatment of obesity based on the reduction in fat mass and the remission of comorbidities, there is also loss of lean mass after BS which could compromise muscle functionality. According to the European Working Group on Sarcopenia in Older People (EWGSOP), sarcopenia is a disease associated with loss of muscle mass, strength, and function. Through a comprehensive review of the literature, we identified a range of studies focusing on evaluating sarcopenia-related parameters according to the EWGSOP2 consensus criteria, before and after BS. Although most studies reported reductions in skeletal muscle mass and absolute muscle strength after surgery, improvements in muscle functionality were generally achieved, independent of the type of BS.
- Minimally invasive surgery for inflammatory Bowel Disease: a systematic review and meta-analysis of robotic versus laparoscopic surgical techniquesPublication . Cunha, Miguel F.; Roseira, JoanaWe read with great interest the article ‘Minimally invasive surgery for inflammatory bowel disease: a systematic review and meta-analysis of robotic versus laparoscopic surgical techniques’, recently published in the Journal of Crohn’s and Colitis. 1 Zaman and colleagues performed the first comprehensive systematic review and meta-analysis to examine the outcomes of robotic versus conventional laparoscopic colorectal resections in patients with inflammatory bowel disease [IBD], focusing on the comparative effectiveness, safety pro files, and surgical performance metrics of these two minimally invasive approaches.
- On the run—comparing bioimpedance analysis (BIA) using portable devicesPublication . Dias, Carina Vieira; Dias, Joana C.; Laranjo, Céu; Cardoso, Paulo; De Sousa-Coelho, Ana LuísaBioelectrical impedance analysis (BIA) is a non-invasive indirect method that allows for measurement of lean and fat body mass. The main goal of this exploratory study was to compare the results from two different portable BIA devices. We found that only fat-free mass and body fat mass were directly comparable between InBodyS10 (Teprel, Porto, Portugal) and seca mBCA 525 (Bacelar, Porto, Portugal) medical portable BIA devices.
- Optimizing the input: can large language models standardize radiology requisitions?Publication . Santinha, João; Guerreiro, HelenaRadiology stands as a central pillar of modern healthcare, non-invasively visualizing anatomy and physiology to guide critical diagnostic and treatment decisions. Over the last decade, the radiology community has made significant strides in standardizing its “outputs,” the radiology report [1]. Through initiatives like the various Reporting and Data Systems (RADS) for breast, liver, prostate, and thyroid imaging, we have improved communication, reduced ambiguity, and enhanced the clinical utility of our findings. However, a high-quality output depends fundamentally on a high-quality input.
- P0463 Distinct hepcidin dynamics in crohn’s disease and ulcerative colitis: links to iron homeostasis and inflammatory activityPublication . Magro, F.; Santos, M. P. Ministro dos; Sousa, Helena Tavares; Roseira, Joana; Fernandes, S. R.; Crespo, R.; Dias, S.; Beatriz, D.; Dias, C. C.; Miranda, R.; Santiago, M.; Portela, F.Background: Hepcidin, the master regulator of systemic iron metabolism, is influenced by iron availability and inflammation.1 In inflammatory bowel disease (IBD), iron deficiency and anaemia are common, yet how hepcidin is regulated in relation to disease phenotype, iron status and inflammatory burden remains incompletely understood.2 We aimed to characterise hepcidin regulation in ulcerative colitis (UC) and Crohn’s disease (CD) according to iron status and inflammatory markers. Methods: In this cross-sectional multicentre study, 589 individuals were enrolled (178 healthy controls, 130 UC, 281CD). Patients were stratified by iron status and activity. Serum hepcidin, iron parameters, and inflammatory and clinical data were collected. Iron deficiency was defined using the ECCO criteria2 , which focuses on ferritin, and a combined ferritin and transferrin saturation definition. Group comparisons, correlations, and multivariable linear regressions were performed. Results: Hepcidin correlated positively with C-reactive protein (CRP) in CD (r=0.125; p=0.038) and negatively with faecal calprotectin (FCAL) in UC (r=-0.311; p.
- Pretreatment antithrombotic strategies in non-ST elevation acute coronary syndromes in contemporaneous clinical practicePublication . Costa, Hugo; Espírito-Santo, Miguel; Fernandes, Raquel; Bispo, João; Guedes, João; Azevedo, Pedro; Carvalho Silva, Daniela; Vinhas, Hugo; Gonçalves, Rui Baptista; Mimoso, JorgeBACKGROUND Pretreatment antithrombotic strategies in non-ST elevation acute coronary syndromes (NSTE-ACS) during hospitalization is still a matter of contention within the cardiology community. Our aim was to analyze in-hospital and one-year follow-up outcomes of patients with NSTE-ACS pretreated with dual antiplatelet therapy (DAPT) versus single antiplatelet therapy (SAPT). METHODS A retrospective study was carried out with NSTE-ACS patients who planned to undergo an invasive strategy and were included in the Portuguese Registry of ACS between 2018 and 2021. A composite primary outcome (in-hospital re-infarction, stroke, heart failure, hemorrhage, death) was compared regarding antiplatelet strategy (DAPT versus SAPT). Secondary outcomes were defined as one-year all-cause mortality and one-year cardiovascular rehospitalization. RESULTS A total of 1469 patients were included, with a mean age of 66 12 years, and 73.9 % were male. The DAPT regime was used in 38.2 % of patients and SAPT in 61.8 % of patients. NSTE myocardial infarction was the most frequent presentation (88.5 %). Revascularization was performed within 24 h in 55.2% of patients. Time until revascularization >24 h occurred in 44.8% of patients, with 16.5% of these between [24 h–48 h], 10.6% in [48 h–72 h] and 17.6% > 72 h. The primary outcome was more frequently observed in the SAPT group (10.4 %, p ¼ 0.033), mainly driven by more ischemic events. Time until revascularization >72 h and the SAPT regime were independent predictors of the primary outcome (OR 3.09, p ¼ 0.005, and OR 2.03, p ¼ 0.008, respectively).
- Prevalence and diagnostic comparison of helicobacter pylori and non-helicobacter pylori helicobacter infections in patients undergoing upper gastrointestinal endoscopy with gastric biopsy in Algarve, PortugalPublication . Mateus, Teresa Letra; Aguieiras, Catarina; Louro, Ricardo; Peixe, Bruno; Calhindro, Mauro; Nunes, Francisco José Viegas Cortez; Queirós, Patrícia; Castelo-Branco, PedroH. pylori infects over half of the global population and is associated with various gastric and extra-gastric diseases. Other species, such as zoonotic non-Helicobacter pylori Helicobacters (NHPHs), have shown similar associations with gastritis and MALT lymphoma and H. pylori-negative cases with gastric disease have been identified, including gastric MALT lymphoma, chronic gastritis, and gastroduodenal ulcers. Accurate identification of these species is of great relevance but remains challenging using conventional diagnostic methods. This cross-sectional study aimed to determine the prevalence of H. pylori and NHPH infections, comparing standard histological protocols with molecular techniques. Between December 2024 and February 2025, 54 adult patients undergoing upper gastrointestinal endoscopy (UGE) with gastric biopsy in three hospitals in Algarve, Portugal were recruited. Endoscopic assessment was performed, and gastric biopsies were collected for histological and molecular analysis. DNA was extracted from antral biopsies and analyzed by conventional PCR to detect H. pylori and NHPH. H. pylori diagnostic techniques were compared, descriptive plus statistical analysis was performed, and p-values < 0.05 were considered to be statistically significant. Fifty-four patients were included in the study, with 51.9% of them presenting symptoms. Endoscopic gastritis was observed in 66.7% of patients, while histological gastritis was present in 88.9%, with statistically significant differences between the two diagnostic techniques (p = 0.004). Helicobacter spp. were identified in 44.4% (24/54) of the patients. H. pylori was detected in 42.6% of the patients by Modified Giemsa stain and in 33.3% by PCR. H. bizzozeronii was found in 35.9% of the patients, with 22.2% showing mixed infections. This study reveals a significant prevalence of Helicobacter spp. in patients from the Algarve region, with both H. pylori and zoonotic H. bizzozeronii detected. This is the first report of H. bizzozeronii DNA detection in gastric biopsies via PCR from patients undergoing UGE in Portugal, highlighting the need to consider NHPH in clinical diagnosis. It is important to include molecular methods in routine diagnostics and the need for broader studies to assess regional and national trends in Helicobacter infections besides H. pylori.