Browsing by Issue Date, starting with "2024-09"
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- When a Child Refuses to Play: A Rare Myopathy.Publication . Condessa, Luzia; Dias, Susana; Moura Antunes, Sofia; Martins, Mafalda; Madureira, InêsIdiopathic inflammatory myopathies (IIM) are a rare group of systemic diseases characterized by progressive proximal muscle weakness and skeletal muscle inflammation. We describe a clinical report of a seven-year-old boy presenting with myalgia and proximal muscle weakness beginning three weeks earlier, with laboratory, MRI, and muscle biopsy findings consistent with IIM. The patient was treated with corticosteroids, methotrexate, immunoglobulin, and intensive motor rehabilitation, with favorable evolution. Diagnosis of Juvenile Polymyositis was confirmed. Three years later, we assisted a relapse of muscle weakness and muscle cytolysis with the onset of bilateral eyelid skin microulcers compatible with dermatomyositis. This report intends to highlight the importance of early diagnosis and treatment in IIM due to the significant burden associated with this group of diseases. In this case, the late onset of the skin lesion contributed to the challenge in this diagnosis.
- Modern Management of Cardiometabolic Continuum: From Overweight/Obesity to Prediabetes/Type 2 Diabetes Mellitus. Recommendations from the Eastern and Southern Europe Diabetes and Obesity Expert Group.Publication . Janez, Andrej; Muzurovic, Emir; Bogdanski, Pawel; Czupryniak, Leszek; Fabryova, Lubomira; Fras, Zlatko; Guja, Cristian; Haluzik, Martin; Kempler, Peter; Lalic, Nebojsa; Mullerova, Dana; Stoian, Anca Pantea; Papanas, Nikolaos; Rahelic, Dario; Silva-Nunes, José; Tankova, Tsvetalina; Yumuk, Volkan; Rizzo, ManfrediThe increasing global incidence of obesity and type 2 diabetes mellitus (T2D) underscores the urgency of addressing these interconnected health challenges. Obesity enhances genetic and environmental influences on T2D, being not only a primary risk factor but also exacerbating its severity. The complex mechanisms linking obesity and T2D involve adiposity-driven changes in β-cell function, adipose tissue functioning, and multi-organ insulin resistance (IR). Early detection and tailored treatment of T2D and obesity are crucial to mitigate future complications. Moreover, personalized and early intensified therapy considering the presence of comorbidities can delay disease progression and diminish the risk of cardiorenal complications. Employing combination therapies and embracing a disease-modifying strategy are paramount. Clinical trials provide evidence confirming the efficacy and safety of glucagon-like peptide 1 receptor agonists (GLP-1 RAs). Their use is associated with substantial and durable body weight reduction, exceeding 15%, and improved glucose control which further translate into T2D prevention, possible disease remission, and improvement of cardiometabolic risk factors and associated complications. Therefore, on the basis of clinical experience and current evidence, the Eastern and Southern Europe Diabetes and Obesity Expert Group recommends a personalized, polymodal approach (comprising GLP-1 RAs) tailored to individual patient's disease phenotype to optimize diabetes and obesity therapy. We also expect that the increasing availability of dual GLP-1/glucose-dependent insulinotropic polypeptide (GIP) agonists will significantly contribute to the modern management of the cardiometabolic continuum.
- When a Child Refuses to Play: A Rare Myopathy.Publication . Condessa, Luzia; Dias, Susana; Moura Antunes, Sofia; Martins, Mafalda; Madureira, InêsIdiopathic inflammatory myopathies (IIM) are a rare group of systemic diseases characterized by progressive proximal muscle weakness and skeletal muscle inflammation. We describe a clinical report of a seven-year-old boy presenting with myalgia and proximal muscle weakness beginning three weeks earlier, with laboratory, MRI, and muscle biopsy findings consistent with IIM. The patient was treated with corticosteroids, methotrexate, immunoglobulin, and intensive motor rehabilitation, with favorable evolution. Diagnosis of Juvenile Polymyositis was confirmed. Three years later, we assisted a relapse of muscle weakness and muscle cytolysis with the onset of bilateral eyelid skin microulcers compatible with dermatomyositis. This report intends to highlight the importance of early diagnosis and treatment in IIM due to the significant burden associated with this group of diseases. In this case, the late onset of the skin lesion contributed to the challenge in this diagnosis.
- Impact of COVID-19 Infection on Lung Function and Nutritional Status Amongst Individuals with Cystic Fibrosis: A Global Cohort Study.Publication . Semenchuk, Julie; Naito, Yumi; Charman, Susan C; Carr, Siobhán B; Cheng, Stephanie Y; Marshall, Bruce C; Faro, Albert; Elbert, Alexander; Gutierrez, Hector H; Goss, Christopher H; Karadag, Bulent; Burgel, Pierre-Régis; Colombo, Carla; Salvatore, Marco; Padoan, Rita; Daneau, Géraldine; Harutyunyan, Satenik; Kashirskaya, Nataliya; Kirwan, Laura; Middleton, Peter G; Ruseckaite, Rasa; de Monestrol, Isabelle; Naehrlich, Lutz; Mondejar-Lopez, Pedro; Jung, Andreas; van Rens, Jacqui; Bakkeheim, Egil; Orenti, Annalisa; Zomer-van Ommen, Domenique; da Silva-Filho, Luiz Vicente Rf; Fernandes, Flavia Fonseca; Zampoli, Marco; Stephenson, Anne LBackground: Factors associated with severe COVID-19 infection have been identified; however, the impact of infection on longer-term outcomes is unclear. The objective of this study was to examine the impact of COVID-19 infection on the trajectory of lung function and nutritional status in people with cystic fibrosis (pwCF). Methods: This is a retrospective global cohort study of pwCF who had confirmed COVID-19 infection diagnosed between January 1, 2020 and December 31, 2021. Forced expiratory volume in one second percent predicted (ppFEV1) and body mass index (BMI) twelve months prior to and following a diagnosis of COVID-19 were recorded. Change in mean ppFEV1 and BMI were compared using a t-test. A linear mixed-effects model was used to estimate change over time and to compare the rate of change before and after infection. Results: A total of 6,500 cases of COVID-19 in pwCF from 33 countries were included for analysis. The mean difference in ppFEV1 pre- and post-infection was 1.4 %, (95 % CI 1.1, 1.7). In those not on modulators, the difference in rate of change pre- and post-infection was 1.34 %, (95 % CI -0.88, 3.56) per year (p = 0.24) and -0.74 % (-1.89, 0.41) per year (p = 0.21) for those on elexacaftor/tezacaftor/ivacaftor. No clinically significant change was noted in BMI or BMI percentile before and after COVID-19 infection. Conclusions: No clinically meaningful impact on lung function and BMI trajectory in the year following infection with COVID-19 was identified. This work highlights the ability of the global CF community to unify and address critical issues facing pwCF.
- An Exploration of Blood-Based Biomarkers of Negative Symptoms of Psychosis in Men.Publication . Rodrigues, Alexandra; Santos, Henrique Castro; Ferreira, Sara; Diogo, Vasco; Costa, Marco; Brissos, Sofia; Gama Marques, João; Prata, DianaNegative symptoms in the context of psychosis are still poorly understood and diagnosed, which impairs the treatment efficacy of current therapies and patient's integration in society. In this study, we aimed to test hypothesis-based and exploratory associations of negative symptom domains, as defined by the Brief Negative Symptom Scale (BNSS), with hormonal and hematological variables, and, complementarily, with standard psychological/cognitive and psychopathological measures. Fifty-one male patients diagnosed with a psychotic disorder underwent a structured interview and blood collection. Standard Spearmen bivariate correlations were used for data analysis. We obtained evidence of hypothesis-based associations between specific negative symptoms and oxytocin, thyroid stimulating hormone levels and neutrophil-to-lymphocyte ratio; as well as novel and hypothesis-free associations with erythrocyte and lymphocyte count, mean corpuscular volume and red cell distribution width. Complementarily, we also obtained some validation of previous associations of negative symptoms with illness resolution, cognitive symptom severity and social performance, and a novel association with anger contagion. We hope our results can generate new hypotheses in psychosis research. Our work suggests further avenues in research on erythrocytic, inflammatory, thyroid and oxytocin-related markers and abnormalities in psychosis, especially in regards to specific negative symptoms, towards more precise and comprehensive etiological, diagnostic and therapeutic models.
- Clinical Trials in Portugal: Past and Future. Position Paper from the Colleges of Clinical Pharmacology and Pharmaceutical Medicine.Publication . Borges-Carneiro, Filipa; Torre Souto, Miguel; Silva, Isabel; Leão Moreira, Paula; Ferraz de Oliveira, Paula; Lopes, Diogo José; Figueira, Luís; Reina-Couto, Marta; Cunha-Miranda, Luís; Ponces Bento, Diogo; Magro, Fernando
- Recommendations for Reducing the Environmental Impact of Inhalers in Portugal: Consensus DocumentPublication . Campos, Luís; Rosa, Paula; Carreiro Martins, Pedro; Xavier, Bilhota; Leuschner, Pedro; M Marques, Maria Inês; Albino, José; Robalo Cordeiro, Carlos; Ordem dos MédicosThis consensus document addresses the reduction of the environmental impact of inhalers in Portugal. It was prepared by the Portuguese Council for Health and the Environment and the societies representing the specialties that account for these drugs' largest volume of prescriptions, namely the Portuguese Society of Pulmonology, the Portuguese Society of Allergology and Clinical Immunology, the Portuguese Society of Pediatrics, the Portuguese Society of Internal Medicine, the Portuguese Association of General and Family Medicine and also a patient association, the Respira Association. The document acknowledges the significant impact of pressurized metered-dose inhalers on greenhouse gas emissions and highlights the need to transition to more sustainable alternatives. The carbon footprint of pressurized metered-dose inhalers and dry powder inhalers in Portugal was calculated, and the level of awareness among prescribing physicians on this topic was also estimated. Finally, recommendations were developed to accelerate the reduction of the ecological footprint of inhalers.
- Gender Disparities in the Academic Performance of Neurology Residents in Portugal.Publication . Ladeira, Filipa; Faustino, Patrícia; Soares, Mafalda; Carvalho, VanessaImplicit bias has been linked to gender disparities in medical careers, impacting not only access to leadership positions but also early career opportunities. We aimed to evaluate if there were differences in the assessment of Neurology residents according to gender. We collected publicly available grades and rankings of two major evaluations that residents are submitted to, one at the beginning and another at the end of the neurology residency program, the National Board Exam and neurology examination, respectively. The National Board Examination is a multiple-choice gender-blinded evaluation, while the neurology examination is an oral gender-unblinded evaluation. We found that 36.5% of women and 21.6% of men were in the first quartile of the National Board Examination ranking, which reflects a similar representation among top classifications when assessed through a gender-blinded examination. On the other hand, the percentage of men who were in the top classification of NE, a gender-unblinded evaluation, was more than twice as high compared to women (37.8% vs 18.3%, p < 0.05). The findings of the present study may imply that there could be a disparity in women's career progression among neurology residents in Portugal, although the recruitment seems balanced between genders.
- Prognostic Factors Associated with Disability in a Cohort of Neuromyelitis Optica Spectrum Disorder and MOG-Associated Disease from a Nationwide Portuguese Registry.Publication . Moura, João; Samões, Raquel; Sousa, Ana Paula; Figueiroa, Sónia; Mendonça, Teresa; Abreu, Pedro; Guimarães, Joana; Melo, Claúdia; Sousa, Raquel; Soares, Mafalda; Correia, Ana Sofia; Marques, Inês Brás; Perdigão, Sandra; Alves, Ivânia; Felgueiras, Helena; Nzwalo, Hipólito; Mendes, Irene; Almeida, Vânia; Boleixa, Daniela; Carneiro, Paula; Neves, Esmeralda; Silva, Ana Martins; Sá, Maria José; Santos, ErnestinaIntroduction: Neuromyelitis optica spectrum disorders (NMOSD) and MOG-associated disease (MOGAD) are an increasingly recognized group of demyelinating disorders of the central nervous system. Previous studies suggest that prognosis is predicted by older age at onset, number of relapses, the severity of the first attack and autoantibody status. Objective: To study prognostic factors associated with disability progression and additional relapses in the 3-year follow-up of a national NMOSD/MOGAD cohort. Results: Out of 180 of the initial Portuguese cohort, data on 82 patients was available at the end of the follow-up period (2019-2022). Two patients died. Twenty (24.4%) patients had one or more attack in this period (25 attacks in total), mostly transverse myelitis (TM) (56.0%) or optic neuritis (32.0%). MOGAD was significantly associated with a monophasic disease course (p = 0.03), with milder attacks (p = 0.01), while AQP4 + NMOSD was associated with relapses (p = 0.03). The most common treatment modalities were azathioprine (38.8%) and rituximab (18.8%). AQP4 + NMOSD more frequently required chronic immunosuppressive treatment, particularly rituximab (p = 0.01). Eighteen (22.5%) had an EDSS ≥6 at the end of the follow-up. AQP4 + NMOSD (p < 0.01) and the occurrence of transverse myelitis (TM) during disease (p = 0.04) correlated with an EDSS≥6 at the end of the follow-up period. MOGAD was significantly associated with an EDSS<6 (p < 0.01), and MOG+ cases that reached an EDSS>6 were significantly older (64.0 ± 2.8 versus 31.0 ± 17.1, p = 0.017). A bivariate logistic regression model including the serostatus and TM attacks during disease history successfully predicted 72.2% of patients that progressed to an EDSS≥6. Conclusion: This study highlights that myelitis predict increased disability (EDSS≥6) in NMOSD/MOGAG and AQP4 positivity is associated with increased disability.
- Prevalence, Management, and Outcomes of Atrial Fibrillation in Paediatric Patients: Insights from a Tertiary Cardiology Centre.Publication . Constante, Andreia Duarte; Suarez, Joana; Lourenço, Guilherme; Portugal, Guilherme; Silva Cunha, Pedro; Martins Oliveira, Mário; Trigo, Conceição; Pinto, Fátima; Laranjo, SérgioAtrial fibrillation (AF) is increasingly recognised in paediatric patients, presenting unique challenges in management due to its association with various underlying heart conditions. This study aimed to evaluate the prevalence, management strategies, and outcomes of AF in this population. : A retrospective analysis was conducted at a tertiary paediatric cardiology centre, including patients aged ≤18 years diagnosed with AF between January 2015 and December 2023. The study focused on demographic details, clinical presentations, treatments, and outcomes. Descriptive statistics were employed to assess treatment efficacy, recurrence rates, and complications. : The study included 36 paediatric patients (median age: 15 years, IQR: 13-17; 58% male). Of these, 52.8% had acquired heart disease, 16.7% had congenital heart anomalies, and 16.7% presented with lone AF. The initial management strategies involved electrical cardioversion in 53.3% of patients and pharmacological conversion with amiodarone in 46.7%. Rhythm control therapy was administered to over 80% of the cohort, and 63.9% were placed on oral anticoagulation, predominantly for rheumatic and congenital heart diseases. The overall success rate of rhythm control was 96.2%, with an AF recurrence rate of 3.8%. Ischemic stroke was the most common complication, occurring in three patients, all with underlying rheumatic heart disease. : AF in paediatric patients is predominantly associated with rheumatic and congenital heart diseases, though a significant proportion of patients present with lone AF. Despite effective rhythm control in most cases, neurological complications, particularly ischemic strokes in patients with underlying heart disease, remain a critical concern. These findings underscore the need for more comprehensive studies to better understand the aetiology, risk factors, and optimal management strategies for paediatric AF.