FM - Contribuições em Revistas Científicas / Contribution to Journals
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- A digital tool for self-reporting cardiovascular risk factors: the RADICAL studyPublication . Santos, José Ferreira; Castela, Inês; Madeira, Sara Gamboa; Furtado, Sofia; Pereira, Hugo Vieira; Teixeira, Diana; Dores, HélderAims: Cardiovascular diseases remain the leading cause of death worldwide. Risk stratification and early interventions are essential to overcome this reality. The RADICAL Study (Risk Assessment via Digital Input for Cardiovascular And Lifestyle Factors) aimed to evaluate the prevalence of self-reported cardiovascular risk factors in individuals without known cardiovascular disease using a digital tool. Methods and results: A digital self-reported cardiovascular risk stratification tool, comprising 23 questions about classical and lifestyle cardiovascular risk factors, was completed by 4149 individuals aged 40–69 years (median age 53.0 [47.0; 60.0] years; 78 % women). Among the cardiovascular risk factors, 40.9 % reported hypercholesterolemia, 26.8 % hypertension, 17.3 % smoking, 5.8 % diabetes, 58.4 % physical inactivity, 19.4 % obesity, 33.7 % sleep less than 7 h/night, and 12.1 % had composite dietary risk factors. Most of the participants (89.9 %) referred having at least one of the eight cardiovascular risk factors. Women had 27 % higher odds of having at least one cardiovascular risk factor compared to men (OR = 1.27, 95 % CI [1.00, 1.60]). Participants aged 50–59 years also had higher odds of having at least one CV risk factor compared to those aged 40–49 years (OR = 1.35, 95 % CI [1.07, 1.70]). Conclusion: The RADICAL Study reveals a high prevalence of cardiovascular risk factors in adults without known cardiovascular disease. Beyond the relevance of traditional risk factors, such as hypercholesterolemia and hypertension, the results regarding physical activity, dietary and sleeping habits are concerning. A self-reported cardiovascular risk identification digital tool could be feasible and help to improve cardiovascular prevention.
- Frequency, sociodemographic, and neuropsychological features of patients with subjective cognitive decline diagnosed using different neuropsychological criteriaPublication . Pestana, Pedro Câmara; Cardoso, Sandra; Guerreiro, Manuela; Maroco, João; Jessen, Frank; Couto, Frederico Simões do; Mendonça, Alexandre deBackground: Subjective Cognitive Decline (SCD) is recognized as a risk stage for future cognitive impairment and dementia. The criteria for SCD include normal performance on neuropsychological testing; however, there is a lack of consensus regarding standard score cut-offs for neuropsychological tests to define cognitive impairment and to differentiate between SCD and Mild Cognitive Impairment (MCI). This study aimed to assess the frequency of SCD diagnosis using various neuropsychological definitions of cognitive normality and to characterize the sociodemographic and neuropsychological features of SCD patients diagnosed under these criteria. Methods: The Cognitive Complaints Cohort (CCC) participants were diagnosed following Subjective Cognitive Decline Initiative (SCD-I) criteria. Normal cognitive performance was defined by the absence of Mild Cognitive Impairment (MCI) according to the five sets of MCI neuropsychologically based criteria defined by Jak and Bondi. Descriptive statistics were used to analyze sociodemographic, clinical, and neuropsychological data. A bootstrap methodology was employed to estimate the mean and 95% confidence intervals (CI) for specific parameters of interest, namely the SMC scale (subjective memory complaints scale), Mini-Mental State Examination (MMSE), Blessed Dementia Rating Scale – first part (BDRS first part), and Geriatric Depression Scale (GDS). Results: Among the 1268 subjects included, the prevalence of SCD diagnosis exhibited substantial variation across SCD-I criteria using different neuropsychological definitions of cognitive normality (ranging from 16.4 to 81.3%). When using the most conservative criteria to define cognitive impairment (2 tests within a cognitive domain > 1.5 SD below age-adjusted means), the resulting Conservative SCD group had poorer global cognitive function (MMSE: mean 27.15, 95% CI 27.00-27.31), whereas when using the most liberal criteria to define cognitive impairment (only one test > 1 SD below age-adjusted means) the resulting Liberal SCD group had superior performance in daily-life functioning (BDRS first part: mean 0.30, 95% CI 0.23–0.38). However, subjective cognitive complaints and neuropsychiatric symptoms did not significantly differ among SCD diagnostic groups. Conclusions: The utilization of diagnostic criteria using distinct neuropsychological definitions of cognitive normality significantly impacts the frequency of SCD diagnosis and characterizes different patient populations. Consequently, it is essential to specify the criterion when diagnosing a SCD patient and to understand the risks and benefits of using different criteria to define cognitive impairment.
- Acromegaly in humans and cats: pathophysiological, clinical and management resemblances and differencesPublication . Lopes-Pinto, Mariana; Marques, Patrícia Lunet; Lacerda-Nobre, Ema; Miceli, Diego; Leal, Rodolfo Oliveira; Marques, PedroObjective: Acromegaly is a disorder associated with excessive levels of growth hormone (GH) and insulin-like growth factor-1 (IGF-1). In general, GH/IGF-1 excess leads to morphologic craniofacial and acral changes as well as cardiometabolic complications, but the phenotypic changes and clinical presentation of acromegaly differ across species. Here, we review the pathophysiology, clinical presentation and management of acromegaly in humans and cats, and we provide a systematic comparison between this disease across these different species. Design: A comprehensive literature review of pathophysiology, clinical features, diagnosis and management of acromegaly in humans and in cats was performed. Results: Acromegaly is associated with prominent craniofacial changes in both species: frontal bossing, enlarged nose, ears and lips, and protuberant cheekbones are typically encountered in humans, whereas increased width of the head and skull enlargement are commonly found in cats. Malocclusion, prognathism, dental diastema and upper airway obstruction by soft tissue enlargement are reported in both species, as well as continuous growth and widening of extremities resulting in osteoarticular compromise. Increase of articular joint cartilage thickness, vertebral fractures and spine malalignment is more evident in humans, while arthropathy and spondylosis deformans may also occur in cats. Generalized organomegaly is equally observed in both species. Other similarities between humans and cats with acromegaly include heart failure, ventricular hypertrophy, diabetes mellitus, and an overall increased cardiometabolic risk. In GH-secreting pituitary tumours, local compressive effects and behavioral changes are mostly observed in humans, but also present in cats. Cutis verticis gyrata and skin tags are exclusively found in humans, while palmigrade/plantigrade stance may occur in some acromegalic cats. Serum IGF-1 is used for acromegaly diagnosis in both species, but an oral glucose tolerance test with GH measurement is only useful in humans, as glucose load does not inhibit GH secretion in cats. Imaging studies are regularly performed in both species after biochemical diagnosis of acromegaly. Hypophysectomy is the first line treatment for humans and cats, although not always available in veterinary medicine. Conclusion: Acromegaly in humans and cats has substantial similarities, as a result of common pathophysiological mechanisms, however species-specific features may be found.
- Pseudoacromegaly - a challenging entity in the endocrine clinic: a systematic reviewPublication . Marques, Pedro; Sapinho, Inês; Korbonits, MártaObjective: Pseudoacromegaly encompasses conditions with features of acromegaly/ gigantism, but no growth hormone (GH) or insulin‐like growth factor‐1 (IGF‐1) excess. We aimed to review published pseudoacromegaly cases evaluated due to clinical suspicion of acromegaly. Design/Patients: PubMed/Medline search was conducted to identify reported pseudoacromegaly cases, which were systematically reviewed to ensure they met eligibility criteria: (1) presentation suggestive of acromegaly; (2) acromegaly excluded based on normal GH, IGF‐1 and/or GH suppression on oral glucose tolerance test (OGTT‐GH); (3) diagnosis of the pseudoacromegaly condition was established. Data were retrieved from each case and analysed collectively. Results: Of 76 cases, 47 were males, mean ages at presentation and at first acromegaloid symptoms were 28 ± 16 and 17 ± 10 years, respectively. Most common conditions were pachydermoperiostosis (47%) and insulin‐mediated pseudoacromegaly (IMP) (24%). Acromegaloid facies (75%) and acral enlargement (80%) were the most common features. Measurement of random GH was reported in 65%, IGF‐1 in 79%, OGTT‐GH in 51%. GH excess was more frequently excluded based on two tests (53%). Magnetic resonance imaging (MRI) was performed in 30 patients, with pituitary adenoma or hyperplasia being reported in eight and three patients, respectively. Investigations differed between cases managed by endocrine and non‐endocrine specialists, the former requesting more often IGF‐1, OGTT‐GH and pituitary MRI. Conclusions: Pseudoacromegaly is a challenging entity that may be encountered by endocrinologists. Pachydermoperiostosis and IMP are the conditions most often mimicking acromegaly. Adequate assessment of GH/IGF‐1 is crucial to exclude acromegaly, which may be better performed by endocrinologists. Pituitary incidentalomas are common and require careful judgement to prevent unnecessary pituitary surgery.
- Portuguese Heart Failure Prevalence Observational Study (PORTHOS) rationale and design – a population-based studyPublication . Baptista, Rui; Silva Cardoso, José; Canhão, Helena; Maria Rodrigues, Ana; Kislaya, Irina; Franco, Fátima; Bernardo, Filipa; Pimenta, Joana; Mendes, Lígia; Gonçalves, Sara; Teresa Timóteo, Ana; Andrade, Aurora; Moura, Brenda; Fonseca, Cândida; Aguiar, Carlos; Brito, Dulce; Ferreira, Jorge; Filipe Azevedo, Luís; Peres, Marisa; Santos, Paulo; Moraes Sarmento, Pedro; Cernadas, Rui; Santos, Mário; Fontes-Carvalho, Ricardo; Campos Fernandes, Adalberto; Martinho, Hugo; González-Juanatey, José Ramon; Filipe Pereira, Luís; Gil, Victor; Raquel Marques, Cláudia; Almeida, Mário; Pardal, Marisa; Barbosa, Veneranda; Gavina, CristinaIntroduction and objectives: Current epidemiological data on heart failure (HF) in Portugal derives from studies conducted two decades ago. The main aim of this study is to determine HF prevalence in the Portuguese population. Using current standards, this manuscript aims to describe the methodology and research protocol applied. Methods: The Portuguese Heart Failure Prevalence Observational Study (PORTHOS) is a large, three-stage, population-based, nationwide, cross-sectional study. Community-dwelling citizens aged 50 years and older will be randomly selected via stratified multistage sampling. Eligible participants will be invited to attend a screening visit at a mobile clinic for HF symptom assessment, anthropomorphic assessment, N-terminal pro-B-type natriuretic peptide (NT-proBNP) testing, one-lead electrocardiogram (ECG) and a sociodemographic and health-related quality of life questionnaire (EQ-5D). All subjects with NT-proBNP ≥125 pg/mL or with a prior history of HF will undergo a diagnostic confirmatory assessment at the mobile clinic composed of a 12-lead ECG, comprehensive echocardiography, HF questionnaire (KCCQ) and blood sampling. To validate the screening procedure, a control group will undergo the same diagnostic assessment. Echocardiography results will be centrally validated, and HF diagnosis will be established according to the European Society of Cardiology HF guidelines. A random subsample of patients with an equivocal HF with preserved ejection fraction diagnosis based on the application of the Heart Failure Association preserved ejection fraction diagnostic algorithm will be invited to undergo an exercise echocardiography. Conclusions: Through the application of current standards, appropriate methodologies, and a strong research protocol, the PORTHOS study will determine the prevalence of HF in mainland Portugal and enable a comprehensive characterization of HF patients, leading to a better understanding of their clinical profile and health-related quality of life.
- Online information search by people with Multiple Sclerosis: a systematic reviewPublication . Berhanu, David; Leal Rato, Miguel; Canhoto, Ana Isabel; Vieira da Cunha, João; Geraldes, RuthBackground: People with Multiple Sclerosis (pwMS) search for information online about various aspects of living with their disease, but details about patterns of searching and outcomes are unclear. This means that opportunities to leverage online resources to support pwMS, and to enhance shared decision making, may be missed. We aimed to do a systematic review of the literature on digital information searching by pwMS. Methods: We performed a systematic search for studies assessing online information seeking of pwMS in MEDLINE and JSTOR databases. Studies were screened and selected by two investigators. All study designs were included, risk of bias was assessed using the Critical Appraisal Skills Programme qualitative checklist. Reports were assessed for the proportion of patients searching information online about MS, type of information sought, online tools used by patients, perceived quality of the information acquired, and impact of online searching in pwMS. Results: We identified 5 studies, including 10,090 patients. Most pwMS search for information online (53.8–82 %), which they rarely discuss with physicians. The most common topics are treatment, general disease information, symptoms, lifestyle recommendations, prognosis, and coping strategies. Patients that are younger, have a shorter disease duration, primary progressive MS, and during periods of disease worsening, are more likely to use online resources. Online information is perceived as low quality by pwMS. Conclusions: Online information search is prevalent among pwMS. Despite concerns with the quality of the available information, only a minority of pwMS will discuss the information found with their physician. These findings highlight the importance of developing and providing quality online information resources for pwMS.
- Effectiveness of palbociclib with aromatase inhibitors for the treatment of advanced breast cancer in an exposure implications for clinical practiceretrospective cohort study:Publication . Costa, Filipa Alves da; Borges, Fábio Cardoso; Ramos, Adriana; Mayer, Alexandra; Brito, Claudia; Ramos, Catarina; Bernardo, Catarina; Cossito, Mariane; Furtado, Cláudia; Ferreira, Arlindo R.; Martins-Branco, Diogo; Miranda, Ana da Costa; Lourenço, AntónioBackground: New drugs for locally advanced or metastatic breast cancer have led to clinical benefits, aside with increasing costs to healthcare systems. The current financing model for health technology assessment (HTA) privileges real-world data. As part of the ongoing HTA, this study aimed to evaluate the effectiveness of palbociclib with aromatase inhibitors (AI) and compare it with the efficacy reported in PALOMA-2. Methods: A population-based retrospective exposure cohort study was conducted including all patients initiating treatment in Portugal with palbociclib under early access use and registered in the National Oncology Registry. The primary outcome was progression free survival (PFS). Secondary outcomes considered included time to palbociclib failure (TPF), overall survival (OS), time to next treatment (TTNT), and proportion of patients discontinuing treatment due to adverse events (AEs). The Kaplan–Meier method was used and median, 1- and 2-year survival rates were computed, with two-sided 95% confidence intervals (95%CI). STrengthening the Reporting of OBservational studies in Epidemiology (STROBE) guidelines for reporting observational studies were used. Results: There were 131 patients included. Median follow-up was 28.3 months (IQR: 22.7–35.2) and median duration of treatment was 17.5 months (IQR: 7.8–29.1). Median PFS was 19.5 months (95%CI 14.2–24.2), corresponding to a 1-year PFS rate of 67.9% (95%CI 59.2–75.2) and a 2-year PFS rate of 42.0% (95%CI 33.5–50.3). Sensitivity analysis showed median PFS would increase slightly when excluding those not initiating treatment with the recommended dose, raising to 19.8 months (95%CI 14.4–28.9). By considering only patients meeting PALOMA-2 criteria, we could observe a major difference in treatment outcomes, with a mean PFS of 28.8 months (95%CI 19.4–36.0). TPF was 19.8 months (95%CI 14.2–24.9). Median OS was not reached. Median TTNT was 22.5 months (95%CI 18.0–29.8). A total of 14 patients discontinued palbociclib because of AEs (10.7%). Conclusions: Data suggest palbociclib with AI to have an effectiveness of 28.8 months, when used in patients with overlapping characteristics to those used in PALOMA-2. However, when used outside of these eligibility criteria, namely in patients with less favorable prognosis (e.g., presence of visceral disease), the benefits are inferior, even though still favorable.
- Quantitative assessment of myocardial fibrosis by digital image analysis: an adjunctive tool for pathologist “ground truth”Publication . Abecasis, João; Cortez-Dias, Nuno; Pinto, Daniel Gomes; Lopes, Pedro; Madeira, Márcio; Ramos, Sancia; Gil, Victor; Cardim, Nuno; Félix, AnaAIMS: Myocardial fibrosis (MF) is a common pathological process in a wide range of cardiovascular diseases. Its quantity has diagnostic and prognostic relevance. We aimed to assess if the complementary use of an automated artificial intelligence software might improve the precision of the pathologist´s quantification of MF on endomyocardial biopsies (EMB). Methods and results: Intraoperative EMB samples from 30 patients with severe aortic stenosis submitted to surgical aortic valve replacement were analysed. Tissue sections were stained with Masson´s trichrome for collagen/fibrosis and whole slide images (WSI) from the experimental glass slides were obtained at a resolution of 0.5 μm using a digital microscopic scanner. Three experienced pathologists made a first quantification of MF excluding the subendocardium. After two weeks, an algorithm for Masson´s trichrome brightfield WSI (at QuPath software) was applied and the automatic quantification was revealed to the pathologists, who were asked to reassess MF, blinded to their first evaluation. The impact of the automatic algorithm on the inter-observer agreement was evaluated using Bland-Altman type methodology. Median values of MF on EMB were 8.33% [IQR 5.00-12.08%] and 13.60% [IQR 7.32-21.2%], respectively for the first pathologist´s and automatic algorithm quantification, being highly correlated (R2: 0.79; p < 0.001). Interobserver discordance was relevant, particularly for higher percentages of MF. The knowledge of the automatic quantification significantly improved the overall pathologist´s agreement, which became unaffected by the degree of MF severity. Conclusions: The use of an automated artificial intelligence software for MF quantification on EMB samples improves the reproducibility of measurements by experienced pathologists. By improving the reliability of the quantification of myocardial tissue components, this adjunctive tool may facilitate the implementation of imaging-pathology correlation studies.
- The effects of peptide receptor radionuclide therapy on the neoplastic and normal pituitaryPublication . Marques, PedroPituitary neuroendocrine tumours (PitNETs) are usually benign and slow-growing; how- ever, in some cases, they may behave aggressively and become resistant to conventional treatments. Therapeutic options for aggressive or metastatic PitNETs are limited, and currently mainly consist of temozolomide, with little experience of other emerging approaches, including peptide receptor radionuclide therapy (PRRT). Somatostatin receptor expression in PitNETs explains the effectiveness of somatostatin analogues for treating PitNETs, particularly those hypersecreting pituitary hormones, such as growth hormone or adrenocorticotropic hormone. The expression of such receptors in pi- tuitary tumour cells has provided the rationale for using PRRT to treat patients with aggressive or metastatic PitNETs. However, the PRRT efficacy in this setting remains unestablished, as knowledge on this today is based only on few case reports and small series of cases, which are reviewed here. A total of 30 PRRT-treated patients have been thus far reported: 23 aggressive PitNETs, 5 carcinomas, and 2 of malignancy status unspecified. Of the 27 published cases with information regarding the response to PRRT, 5 (18%) showed a partial response, 8 (30%) had stable disease, and 14 (52%) had progressive disease. No major adverse effects have been reported, and there is also no increased risk of clinically relevant hypopituitarism in patients with pituitary or non-pituitary neuroendocrine tumours following PRRT. PRRT may be regarded as a safe option for patients with aggressive or metastatic PitNETs if other treatment approaches are not feasible or have failed in controlling the disease progression, with tumour shrinkage occurring in up to a fifth of cases, while about a third of aggressive pituitary tumours may achieve stable disease. Here, the data on PRRT in the management of patients with aggressive pituitary tumours are reviewed, as well as the effects of PRRT on the pituitary function in other PRRT-treated cancer patients.