Browsing by Issue Date, starting with "2022-02"
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- Erasmus Syndrome: an Underrecognized EntityPublication . Magalhães, A; Moreira, I; Pinheiro, S; Borba, AWe present a case of a 33-year-old male who worked as a plumber and a locksmith. The patient presented with diffuse myalgia and asthenia, skin sclerosis and puffy fingers, Raynaud's phenomenon, exertional dyspnea and erectile dysfunction. The presence of specific autoantibodies enabled the diagnosis of systemic sclerosis. Chest-computed tomography revealed upper lobe consolidation. After extensive evaluation, the multidisciplinary interstitial lung disease team concluded that the patient also had advanced silicosis. After a year, there was significant clinical, radiologic, and functional deterioration of the lung disease. The patient was referred for lung transplant. Silica inhalation is the cause of silicosis but is also implicated in the development of systemic sclerosis (Erasmus syndrome). Although they share a common risk factor, it is rare to find both diseases co-existing. We present this case of a young patient where both diseases presented aggressively in order to raise awareness to this association.
- An International Multidisciplinary Delphi-Based Consensus on Heat Therapy in Musculoskeletal PainPublication . Lubrano, E; Mazas, P; Freiwald, J; Krüger, K; Grattagliano, I; Mur, E; Queiro Silva, R; Maruri, G; Sequeira de Medeiros, LIntroduction: Musculoskeletal pain (MP) is prevalent in our society, having a strong negative impact on physical and psychosocial quality of life. Heat therapy (HT) has been frequently described as a treatment strategy for musculoskeletal pain, but scientific evidence is still poor. The aim of the present Delphi method study is to gather a consensus among European experts on the role of HT in MP. Methods: To address this topic, a list of 54 statements was developed, concerning mechanism of action of heat on muscle, types of MP eligible for heat treatment, efficacy of HT, time and modalities of treatment, maximizing compliance to HT, safety (based on heat wraps), wrong beliefs and common errors in the prescription of HT and the role of HT in preventing muscular damage in athletes. The survey was distributed to 116 European experts, using a 5-point Likert scale to express agreement or disagreement with the statements; 66% concordance with the statements was needed to define a consensus. Results: Consensus was reached on 78% of statements. There was a strong consensus on the mechanism of action of heat on muscle, the indication in chronic MP, its effectiveness as part of a multimodal approach to MP and the safety and tolerability of superficial heat therapy. A low-level of consensus was obtained on the role of heat in preventing muscular damage and in acute MP. Conclusion: This Delphi consensus recognizes the role of HT mostly in chronic MP and highlights the need for stronger scientific evidence to regulate the use of this therapy in clinical practice.
- Risk of Fetal Loss After Chorionic Villus Sampling in Twin Pregnancy Derived from Propensity Score Matching AnalysisPublication . Gil, M; Rodríguez‐Fernández, M; Elger, T; Akolekar, R; Syngelaki, A; De Paco Matallana, C; Molina, F; Gallardo Arocena, M; Chaveeva, P; Persico, N; Accurti, V; Kagan, K; Prodan, N; Cruz, J; Nicolaides, KObjective: To estimate the risk of fetal loss associated with chorionic villus sampling (CVS) in twin pregnancy, using propensity score analysis. Methods: This was a multicenter cohort study of women with twin pregnancy undergoing ultrasound examination at 11-13 weeks' gestation, performed in eight fetal medicine units in which the leadership were trained at the Harris Birthright Research Centre for Fetal Medicine in London, UK, and in which the protocols for screening, invasive testing and pregnancy management are similar. The risk of death of at least one fetus was compared between pregnancies that had and those that did not have CVS, after propensity score matching (1:1 ratio). This procedure created two comparable groups by balancing the maternal and pregnancy characteristics that lead to CVS being performed, similar to how randomization operates in a randomized clinical trial. Results: The study population of 8581 twin pregnancies included 445 that had CVS. Death of one or two fetuses at any stage during pregnancy occurred in 11.5% (51/445) of pregnancies in the CVS group and in 6.3% (515/8136) in the non-CVS group (P < 0.001). The propensity score algorithm matched 258 cases that had CVS with 258 non-CVS cases; there was at least one fetal loss in 29 (11.2%) cases in the CVS group and in 35 (13.6%) cases in the matched non-CVS group (odds ratio (OR), 0.81; 95% CI, 0.48-1.35; P = 0.415). However, there was a significant interaction between the risk of fetal loss after CVS and the background risk of fetal loss; when the background risk was higher, the risk of fetal loss after CVS decreased (OR, 0.46; 95% CI, 0.23-0.90), while, in pregnancies with a lower background risk of fetal loss, the risk of fetal loss after CVS increased (OR, 2.45; 95% CI, 0.95-7.13). The effects were statistically significantly different (P-value of the interaction = 0.005). For a pregnancy in which the background risk of fetal loss was about 6% (the same as in our non-CVS population), there was no change in the risk of fetal loss after CVS, but, when the background risk was more than 6%, the posterior risk was paradoxically reduced, and when the background risk was less than 6%, the posterior risk increased exponentially; for example, if the background risk of fetal loss was 2.0%, the relative risk was 2.8 and the posterior risk was 5.6%. Conclusion: In twin pregnancy, after accounting for the risk factors that lead to both CVS and spontaneous fetal loss and confining the analysis to pregnancies at lower prior risk, CVS seems to increase the risk of fetal loss by about 3.5% above the patient's background risk. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.
- In Vivo Metabolic Responses to Different Formulations of Amino Acid Mixtures for the Treatment of Phenylketonuria (PKU)Publication . Giarratana, N; Giardino, L; Bighinati, A; Reiner, G; César Rocha, JPhenylketonuria (PKU) is a rare autosomal recessive inborn error of metabolism where the mainstay of treatment is a Phe restricted diet consisting of a combination of limited amounts of natural protein with supplementation of Phe-free or low-Phe protein substitutes and special low protein foods. Suboptimal outcomes may be related to the different absorption kinetics of free AAs, which have lower biological efficacy than natural proteins. Physiomimic TechnologyTM is a technology engineered to prolong AA (AA-PT) release allowing physiological absorption and masking the odor and taste of free AAs. The aim of these studies was to assess the impact of AA-PT formulation on selected functional and metabolic parameters both in acute and long-term experimental studies. Adult rats in fasting conditions were randomized in different groups and treated by oral gavage. Acute AA-PT administration resulted in significantly lower BUN at 90 min versus baseline. Both BUN and glycemia were modulated in the same direction as intact casein protein. Long-term treatment with AA-PT significantly reduces the protein expression of the muscle degradation marker Bnip3L (-46%) while significantly increasing the proliferation of market myostatin (+58%). Animals dosed for 15 days with AA-PT had significantly stronger grip strength (+30%) versus baseline. In conclusion, the results suggest that the AA-PT formulation may have beneficial effects on both AA oxidation and catabolism with a direct impact on muscle as well as on other metabolic pathways.
- Outbreak of Monkeypox in an STD Clinic in LisbonPublication . Caldeira, M; Fernandes, C; Neves, J; João, A; Calado, R; Pinto, AR; Borrego, MJ; Cordeiro, R; Machado, J; Pelerito, A; Lopes de Carvalho, I; Vieira, L; Núncio, MS; Paiva Lopes, MJ
- Risk Factors for Mortality in Patients With COVID-19 Needing Extracorporeal Respiratory SupportPublication . Riera, J; Alcántara, S; Bonilla, C; Fortuna, P; Blandino Ortiz, A; Vaz, A; Albacete, C; Millán, P; Ricart, P; Boado, MV; Ruiz de Gopegui, P; Santa Teresa, P; Sandoval, E; Pérez-Chomón, H; González-Pérez, A; Duerto, J; Gimeno, R; Colomina, J; Gómez, V; Renedo, G; Naranjo, J; García, MA; Rodríguez-Ruiz, E; Silva, PE; Pérez, D; Veganzones, J; Voces, R; Martínez, S; Blanco-Schweizer, P; García, M; Villanueva-Fernández, H; Fuset, MP; Luna, S; Martínez-Martínez, M; Argudo, E; Chiscano, L; Roncon-Albuquerque, RWhen indicating ECMO in patients with COVID-19, centre case volume, age, driving pressure and the duration of symptoms (not the length of MV) should be taken into account. Large drainage cannula and high PEEP levels during the first days are recommended.
- Nationwide Access to Endovascular Treatment for Acute Ischemic Stroke in PortugalPublication . Carvalho Dias, M; Soares dos Reis, R; Santos, JV; Paiva Nunes, A; Ferreira, P; Maia, B; Fragata, I; Reis, J; Ramos Lopes, J; Cruz, L; Santo, G; Machado, E; Gabriel, D; Felgueiras, R; Dória, H; Carneiro, A; Correia, M; Veloso, LM; Barros, P; Gregório, T; Carvalho, A; Ribeiro, M; Teotónio, P; Neto, L; Pinho e Melo, T; Canhão, P; Filipe, JP; Moreira, G; Azevedo, E; Silva, ML; Campos Costa, E; Oliveira, G; Pereira, L; Neves, L; Rodrigues, M; Marto, JP; Calado, S; Grenho, F; Branco, G; Baptista, T; Rocha, J; Ferreira, C; Pinho, J; Amorim, JM; Araújo, JM; Neiva, RM; Viana, J; Lobo, M; Freitas, A; Tedim Cruz, V; Sargento-Freitas, J; Castro Lopes, JIntroduction: Since the publication of endovascular treatment trials and European Stroke Guidelines, Portugal has re-organized stroke healthcare. The nine centers performing endovascular treatment are not equally distributed within the country, which may lead to differential access to endovascular treatment. Our main aim was to perform a descriptive analysis of the main treatment metrics regarding endovascular treatment in mainland Portugal and its administrative districts. Material and methods: A retrospective national multicentric cohort study was conducted, including all ischemic stroke patients treated with endovascular treatment in mainland Portugal over two years (July 2015 to June 2017). All endovascular treatment centers contributed to an anonymized database. Demographic, stroke-related and procedure-related variables were collected. Crude endovascular treatment rates were calculated per 100 000 inhabitants for mainland Portugal, and each district and endovascular treatment standardized ratios (indirect age-sex standardization) were also calculated. Patient time metrics were computed as the median time between stroke onset, first-door, and puncture. Results: A total of 1625 endovascular treatment procedures were registered. The endovascular treatment rate was 8.27/100 000 inhabitants/year. We found regional heterogeneity in endovascular treatment rates (1.58 to 16.53/100 000/year), with higher rates in districts closer to endovascular treatment centers. When analyzed by district, the median time from stroke onset to puncture ranged from 212 to 432 minutes, reflecting regional heterogeneity. Discussion: Overall endovascular treatment rates and procedural times in Portugal are comparable to other international registries. We found geographic heterogeneity, with lower endovascular treatment rates and longer onset-to-puncture time in southern and inner regions. Conclusion: The overall national rate of EVT in the first two years after the organization of EVT-capable centers is one of the highest among European countries, however, significant regional disparities were documented. Moreover, stroke-onset-to-first-door times and in-hospital procedural times in the EVT centers were comparable to those reported in the randomized controlled trials performed in high-volume tertiary hospitals.
- The Role of the Metabolome and Non-Coding RNA on Pheochromocytomas and Paragangliomas: an UpdatePublication . Bouça, B; Bogalho, P; Rizzo, M; Silva-Nunes, JPheochromocytoma and paragangliomas (PPGL) are rare neuroendocrine tumors. In some patients they exhibit malignant behavior characterized by the presence of metastases, limiting treatment options and survival rates. Therapeutic options are limited to surgery, localized radiotherapy, and a few systemic therapies. However, in several recent studies, non-coding RNA molecules are gaining increasing attention as markers of malignancy for PPGL. The understanding of PPGL development molecular mechanisms has improved in the last years, with some of the epigenetic regulatory mechanisms such as DNA and histones methylation, being better understood than RNA-based mechanisms. Metabolome deregulation in PPGL, with increased synthesis of molecules that facilitated tumor growth, results from the activation of hypoxia signaling pathways, affecting tumorigenesis. In addition, the assessment of these metabolites can be useful for the management of these tumors. This review summarizes recent discoveries linking metabolome and non-coding RNA to PPGL and their relevance for diagnosis and therapeutics.