Centro Hospitalar do Porto
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Equilíbrio Dinâmico e Mobilidade Explicam a Qualidade de Vida na ICFEP, Superando Todos os Outros Componentes da Aptidão Física
Get PDFBackground Physical fitness is an important determinant of quality of life (QoL) in heart failure with preserved ejection fraction (HFpEF) patients. However, how the different physical fitness components correlate with the specific dimensions of QoL in HFpEF patients remains unknown. Objective To evaluate the association between different physical fitness components and QoL dimensions in HFpEF patients, and, assess which physical fitness components were independently associated to QoL. Methods Patients with HFpEF were assessed for physical fitness [dynamic balance and mobility (8-foot-up-and go test), upper body strength (handgrip), cardiorespiratory fitness (CRF) (6-minute-walking test) and body composition (body mass index)] and for QoL (Minnesota Living With Heart Failure Questionnaire). Partial correlation was used to verify the association between physical fitness components and QoL dimensions. The determination of independent predictors in QoL dimensions was assessed through stepwise multivariate linear regression analysis. Statistical significance was set at p<0.05. Results Both CRF and dynamic balance and mobility are significantly associated with the total score and physical dimensions of QoL (p<0.05), but only dynamic balance and mobility were concomitantly associated with the emotional dimension (r=0.597; p=0.004). Dynamic balance and mobility were independently associated with total score (β=0.651; r2=0.424; p=0.001), physical (β=0.570; r2=0.324; p=0.04) and emotional (β=0.611; r2=0.373 p=0.002) dimensions of QoL. Conclusion Our data suggests that dynamic balance and mobility better assess QoL than CRF, which is commonly measured in clinical practice. Whether interventions specifically targeting dynamic balance and mobility have different impacts on QoL remains unknown. (Arq Bras Cardiol. 2020; 114(4):701-707).CIAFEL recebeu apoio da FCT através do financiamento
[UID/DTP/00617/2019]. A UnIC é financiada pela FCT
através do financiamento [UID/IC/00051/2019] e [UID/
DTP/00617/2019]. Este trabalho foi financiado pelos
projetos [PTDC/MEC-CAR/30011/2017] [POCI-01-
0145FEDER-030011]. Cristine Schmidt recebeu financiamento
individual da CAPES [BEX 0554/14-6]info:eu-repo/semantics/publishedVersio
Opposing Effects of Adenosine and Inosine in Human Subcutaneous Fibroblasts May Be Regulated by Third Party ADA Cell Providers
Get PDFHuman subcutaneous fibroblasts (HSCF) challenged with inflammatory mediators release huge amounts of ATP, which rapidly generates adenosine. Given the nucleoside's putative relevance in wound healing, dermal fibrosis, and myofascial pain, we investigated the role of its precursor, AMP, and of its metabolite, inosine, in HSCF cells growth and collagen production. AMP (30 µM) was rapidly (t½ 3 ± 1 min) dephosphorylated into adenosine by CD73/ecto-5'-nucleotidase. Adenosine accumulation (t½ 158 ± 17 min) in the extracellular fluid reflected very low cellular adenosine deaminase (ADA) activity. HSCF stained positively against A2A and A3 receptors but were A1 and A2B negative. AMP and the A2A receptor agonist, CGS21680C, increased collagen production without affecting cells growth. The A2A receptor antagonist, SCH442416, prevented the effects of AMP and CGS21680C. Inosine and the A3 receptor agonist, 2Cl-IB-MECA, decreased HSCF growth and collagen production in a MRS1191-sensitive manner, implicating the A3 receptor in the anti-proliferative action of inosine. Incubation with ADA reproduced the inosine effect. In conclusion, adenosine originated from extracellular ATP hydrolysis favors normal collagen production by HSCF via A2A receptors. Inhibition of unpredicted inosine formation by third party ADA cell providers (e.g., inflammatory cells) may be a novel therapeutic target to prevent inappropriate dermal remodeling via A3 receptors activation.info:eu-repo/semantics/publishedVersio
Oral ulcer as presentation of cavitating pulmonary tuberculosis
Get PDFTuberculosis is an indolent infection that can invade any organ. Although the most frequent form of presentation is pulmonary, it can have an extra-pulmonary presentation, including rare cases of oral tuberculosis. We present a clinical case of a 44 year-old man, active smoker, with an ulcerated lesion on the posterior third of the tongue, initially interpreted as a probable neoplasm. The pathological study of the biopsy performed on the lesion, showed alterations compatible with a chronic granulomatous process and the presence of acid-fast bacilli. The concomitant diagnosis of pulmonary tuberculosis was made in a subsequent study. The patient started therapy with isoniazid, rifampin, pyrazinamide and ethambutol with complete resolution of the oral lesion and pulmonary tuberculosis. This case exemplifies the importance of including tuberculosis in the differential diagnosis of ulcerated and neoformative lesions and the value of performing a microbiological study alongside the pathological one.info:eu-repo/semantics/publishedVersio
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature
Get PDFCopy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4-BP5) harbours both deletions and duplications that are associated in carriers with neurodevelopmental and neuropsychiatric conditions as well as several rare disorders including congenital malformation syndromes. The aim of this article is to provide a review of the current knowledge of the diverse neurodevelopmental disorders (NDD) associated with 16p11.2 deletions and duplications reported in published cohorts. A literature review was conducted using the PubMed/MEDLINE electronic database limited to papers published in English between 1 January 2010 and 31 July 2020, describing 16p11.2 deletions and duplications carriers' cohorts. Twelve articles meeting inclusion criteria were reviewed from the 75 articles identified by the search. Of these twelve papers, eight described both deletions and duplications, three described deletions only and one described duplications only. This study highlights the heterogeneity of NDD descriptions of the selected cohorts and inconsistencies concerning accuracy of data reporting.info:eu-repo/semantics/publishedVersio
Chronic hepatitis C treatment in HIV co‐infection in Portugal: Results from a cohort OF 2133 patients presented by GEPCOI (Portuguese Coinfection Study Group)
Get PDFDirect-acting antiviral drugs (DAAs) have recently changed the paradigm of hepatitis C therapy, significantly improving treatment response rates, patient life expectancy and quality of life. In Portugal, sofosbuvir (SOF) and SOF/ledipasvir (SOF/LDV) were fully reimbursed by the National Health System since early 2015 and generalized use of interferon-free DAA based regimens became current practice. During 2016, the remaining DAAs were sequentially added and covered by the same health access policy. The Portuguese Study Group of Hepatitis and HIV Co-infection (GEPCOI) collected data from 15 clinical centres in Portugal, pertaining to the HCV treatment experience with DAA regimens. A cohort of 2133 patients was analysed, representing one of the largest DAA treated HCV/HIV co-infected individuals. The global sustained virologic response (SVR) achieved was 95% in this real-life cohort setting. Linear regression analysis showed significant differences in treatment response rates when using SOF plus ribavirin (RBV) combination in genotype 2 or 3 infected individuals (P < .002) and in those with liver cirrhosis (P < .002). These findings corroborate that early treatment is mandatory in HIV/HCV co-infected patients, as response rates may be negatively influenced by higher fibrosis stages and suboptimal DAA regimens. The current national Portuguese health policy should continue to promote wider treatment access and individualized therapy strategies, aiming at the elimination of HCV infection in this high-risk co-infected population.info:eu-repo/semantics/publishedVersio
Predicting 6-Month Mortality in Incident Elderly Dialysis Patients: A Simple Prognostic Score
Get PDFAim: Mortality in end-stage renal disease (ESRD) remains high, particularly among elderly, who represents the most rapidly growing segment of the ESRD population in wealthier countries. We developed and validated a risk score in elderly patients to predict 6-month mortality after dialysis initiation.
Methods: We used data from a cohort of 421 patients, aged 65 years and over who started dialysis between 2009 and 2016, in our Nephrology department. The predictive score was developed using a multivariable logistic regression analysis. A bootstrapping technique was used for internal validation.
Results: The overall mortality within 6 months was 14.0%. Five independent predictors were identified, and a points system was constructed: age 75 years or older (2 points), coronary artery disease (2), cerebrovascular disease with hemiplegia (2), time of nephrology care before dialysis (<3.0 months [2]; ≥3 to <12 months [1]), and serum albumin levels (3.0-3.49 g/dL [1]; <3.0 g/dL [2]). A score of 6 identified patients with a 70% risk of 6-month mortality. Model performance was good in both discrimination (area under the curve of 0.793; [95% CI 0.73-0.86]) and validation (concordance statistics of 0.791 [95% CI 0.73-0.85]).
Conclusions: We developed a simple prediction score based on readily available clinical and laboratory data that can be a practical and useful tool to assess short-term prognosis in elderly patients starting dialysis. It may help to inform patients and their families about ESRD treatment options and provide a more patient-centered overall approach to care.info:eu-repo/semantics/publishedVersio
Evaluation of Mortality During Long-Term Treatment with Tafamidis for Transthyretin Amyloidosis with Polyneuropathy: Clinical Trial Results up to 8.5 Years
Get PDFIntroduction: The effects of tafamidis on mortality in Val30Met and non-Val30Met patients with transthyretin amyloidosis with polyneuropathy (ATTR-PN) were evaluated.
Methods: The analyses were based on cumulative data from the Val30Met patients in the 18-month double-blind registration study and its 12-month open-label extension study, the non-Val30Met patients of the 12-month open-label study, and both patient groups in the ongoing 10-year extension study. Kaplan-Meier analyses of time to death from first treatment dose were performed. For the Val30Met group, two treatment groups were analyzed: those who received tafamidis in both the parent and extension studies (T-T) and those who received placebo in the parent study and switched to tafamidis in the extension studies (P-T).
Results: Kaplan-Meier estimates (95% confidence interval [CI]) were available up to 9 years for the Val30Met group, at which time 85.9% (53.1-96.4) and 91.1% (77.9-96.6) of the patients in the T-T and P-T groups, respectively, were alive. For the non-Val30Met group, estimates were available up to 8 years from the first dose, and the percentage of patients alive was 75.9% (47.7-90.2).
Conclusion: Long-term tafamidis treatment may confer survival benefit in patients with ATTR-PN.These studies were initially sponsored by FoldRx Pharmaceuticals, which was acquired by Pfizer in October 2010. The current analyses were sponsored by Pfizer. Funding for the journal’s Rapid Service was provided by Pfizer. All authors had full access to all of the data in this study and take complete responsibility for the integrity of the data and accuracy of the data analysis.info:eu-repo/semantics/publishedVersio
Cardiac phenotype in ATP1A3-related syndromes
Get PDFObjective: To define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes.
Methods: Patients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) with ATP1A3 genetic analysis and at least 1 cardiac assessment were included. We evaluated the cardiac phenotype in an Atp1a3 knock-in mouse (Mashl+/-) to determine the sequence of events in seizure-related cardiac death.
Results: Ninety-eight patients with AHC, 9 with RDP, and 3 with CAPOS (63 female, mean age 17 years) were included. Resting ECG abnormalities were found in 52 of 87 (60%) with AHC, 2 of 3 (67%) with CAPOS, and 6 of 9 (67%) with RDP. Serial ECGs showed dynamic changes in 10 of 18 patients with AHC. The first Holter ECG was abnormal in 24 of 65 (37%) cases with AHC and RDP with either repolarization or conduction abnormalities. Echocardiography was normal. Cardiac intervention was required in 3 of 98 (≈3%) patients with AHC. In the mouse model, resting ECGs showed intracardiac conduction delay; during induced seizures, heart block or complete sinus arrest led to death.
Conclusions: We found increased prevalence of ECG dynamic abnormalities in all ATP1A3-related syndromes, with a risk of life-threatening cardiac rhythm abnormalities equivalent to that in established cardiac channelopathies (≈3%). Sudden cardiac death due to conduction abnormality emerged as a seizure-related outcome in murine Atp1a3-related disease. ATP1A3-related syndromes are cardiac diseases and neurologic diseases. We provide guidance to identify patients potentially at higher risk of sudden cardiac death who may benefit from insertion of a pacemaker or implantable cardioverter-defibrillator.info:eu-repo/semantics/publishedVersio
Implementation of European Alpha-1 Research Collaboration (EARCO) in Portugal: the future starts now
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COVID-19 e comorbilidades cardiovasculares: uma atualização
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