FM - Contribuições em Revistas Científicas / Contribution to Journals
Permanent URI for this collection
Browse
Browsing FM - Contribuições em Revistas Científicas / Contribution to Journals by Title
Now showing 1 - 10 of 39
Results Per Page
Sort Options
- 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.
- And the quest continues…Publication . Mendes, Lígia
- Association of statin use on survival outcomes of patients with early-stage HER2-positive breast cancer in the APHINITY trialPublication . Maurer, Christian; Agostinetto, Elisa; Ameye, Lieveke; Lambertini, Matteo; Martel, Samuel; Ponde, Noam; Brandão, Mariana; Poggio, Francesca; Ferreira, Arlindo; Schiff, Rachel; Angelis, Carmine De; Gelber, Richard D.; Dent, Susan; Thomssen, Christoph; Piccart, Martine; Azambuja, Evandro dePurpose There is evidence that statins might improve the outcome of patients with breast cancer. The role of statins in patients with early HER2-positive breast cancer is unknown. Therefore, we explored the association between statin use and survival outcomes in early HER2-positive breast cancer patients in the phase III APHINITY trial (adjuvant pertuzumab/ trastuzumab). Methods All patients (intent-to-treat population, n=4804) were included (6.2 years median follow-up database). The primary objective was to investigate the association of statin use on invasive disease-free survival (IDFS), distant relapse-free interval (DRFI), and overall survival (OS). Patients who received statins at baseline, or started statins within 1 year from randomization were considered statin users. Survival curves were estimated using the Kaplan–Meier method. We used a Cox proportional hazards model for multivariate analysis. Results Overall, 423 (8.8%) patients were classifed as statin users. They were older, more often postmenopausal, had a higher body mass index, more often diabetes, hypertension, coronary heart disease and hyperlipidemia, had smaller sized tumors, were treated more often with breast conserving surgery, and less often with anthracycline-containing regimens. Overall, 508 IDFS events (12.8% among statin users and 10.4% among non-statin users) and 272 deaths (8.5% and 5.4%, respectively) occurred. In multivariate analysis, statin use was not associated with IDFS (HR, 1.11; 95% CI, 0.80–1.52), DRFI (HR, 1.21; 95% CI, 0.81–1.81) nor OS (HR, 1.16; 95% CI, 0.78–1.73). Conclusion In APHINITY, statin use was not associated with improved survival outcomes. These results must be interpreted with caution due to the exploratory nature of the analysis and the associated limitations.
- Beyond the apnea-hypopnea index: symptomatic assessment as a treatment pathway for obstructive sleep apnea managementPublication . Almeida, Fernanda R.; Falardo, Susana
- Breaking free from prognostic paralysis in chronic advanced diseasesPublication . Neto, Isabel Galriça; Sarmento, Teresa; Bruera, Eduardo
- Bringing hope to improve treatment in pancreatic ductal adenocarcinoma - a new tool for molecular profiling of KRAS mutations in tumor and plasma samplesPublication . Bravo, Ana Catarina; Morão, Bárbara; Luz, André; Dourado, Rúben; Oliveira, Beatriz; Guedes, Ana; Moreira-Barbosa, Catarina; Fidalgo, Catarina; Mascarenhas-Lemos, Luís; Costa-Santos, Maria Pia; Maio, Rui; Paulino, Jorge; Baptista, Pedro Viana; Fernandes, Alexandra R.; Cravo, MaríliaBackground/Objectives: Pancreatic ductal adenocarcinoma (PDAC) incidence is rising, and prognosis remains poor due to late diagnosis and limited effective therapies. Currently, patients are treated based on TNM staging, without molecular tumor characterization. This study aimed to validate a technique that combines the amplification refractory mutation system (ARMS) with high-resolution melting analysis (HRMA) for detecting mutations in codon 12 of KRAS in tumor and plasma, and to assess its prognostic value. Methods: Prospective study including patients with newly diagnosed PDAC with tumor and plasma samples collected before treatment. Mutations in codon 12 of KRAS (G12D, G12V, G12C, and G12R) were detected using ARMS–HRMA and compared to Sanger sequencing (SS). Univariate and multivariate analyses were used to evaluate the prognostic significance of these mutations. Results: A total of 88 patients, 93% with ECOG-PS 0–1, 57% with resectable disease. ARMS–HRMA technique showed a higher sensitivity than SS, both in tumor and plasma (77% vs. 51%; 25 vs. 0%, respectively). The most frequent mutation was G12D (n = 32, 36%), followed by G12V (n = 22, 25%). On multivariate analysis, patients with G12D and/or G12C mutations, either in tumor or plasma, had lower PFS (HR 1.792, 95% CI 1.061–3.028, p = 0.029; HR 2.081, 95% CI 1.014–4.272, p = 0.046, respectively) and lower OS (HR 1.757, 95% CI 1.013–3.049, p = 0.045; HR 2.229, 95% CI 1.082–4.594, p = 0.030, respectively). Conclusions: ARMS–HRMA is a rapid and cost-effective method for detecting KRAS mutations in PDAC patients, offering the potential for stratifying prognosis and guiding treatment decisions. The presence of G12D and G12C mutations in both tumor and plasma is associated with a poorer prognosis.
- CA2/3-dependent stability of frontal mnemonic representations predict episodic deficits in human amnesiaPublication . Miller, Thomas D.; Hickling, Alice L.; Wu, Yan I.; Zhou, Joseph H.; Handel, Adam E.; Coutinho, Ester; Pollak, Thomas A.; Zandi, Michael S.; Maguire, Eleanor A.; Rosenthal, Clive R.The hippocampus reconstructs past experiences by integrating sensory, perceptual, and conceptual information across a cortico-hippocampal autobiographical memory network. Here, in 18 human participants with amnesia, we decode the effects of bilateral focal hippocampal damage on distinct autobiographical representations using representational dissimilarity matrices (RDMs). Hippocampal pathology results in impaired generalized episodic memory retrieval RDM model fit in the left angular gyrus and in reduced distinct episodic memory RDM model fit in the right inferior frontal gyrus (rIFG), while right angular gyrus (rANG) and right orbitofrontal cortex (rOFC) fall below multiple correction thresholds. Trial-by-trial voxelrepresentational stability is reduced in the rANG, rIFG, and rOFC. The RDM model fits and mnemonic stability are predicted by total CA2/3 volumes. Trial-by-trial retrieval stability within the rOFC and rIFG predicts episodic memory performance, providing a direct neural correlation between hippocampal dysfunction, altered mnemonic representations, and amnesia.
- Deciphering the mechanisms: pathophysiology of migraine-related cognitive dysfunctionPublication . Fernandes, Catarina; Gil-Gouveia, RaquelMigraine is increasingly understood as a disorder of brain network dysfunction, where attack-related cognitive symptoms (attention deficits, slowed processing speed and executive dysfunction) can be as disabling as pain and may persist into the interictal period. Such symptoms are associated with functional and structural changes across the migraine cycle, involving the prefrontal cortex, thalamus, hypothalamus, hippocampus and cerebellum. Interictal deficits in working memory, visuospatial processing, verbal fluency and executive function are also documented. Rodent models show impairments in learning and memory, while humans studies suggest that cortical hyperresponsiveness and deficient sensory habituation contribute to altered attentional processing, reflecting thalamocortical dysfunction and abnormal synaptic plasticity as underlying mechanisms. Cognitive performance is modulated by disease severity, chronification, hormonal fluctuations, psychiatric comorbidities, sleep disturbances and medication use. Anxiety, depression and sleep disorders negatively affect working memory, executive function and attention, while medication overuse further impairs visuospatial skills and orientation. Dementia risk appears heightened in migraine patients with frequent and severe attacks, as clinic-based studies consistently report cognitive deficits in this cohorts, unlike population-based studies. While longitudinal cohorts find no increased dementia risk, meta-analyses suggest a modest risk elevation. Differences are likely due to methodological differences in cognitive testing and diagnostic approaches. Cognitive dysfunction in migraine is multidimensional, involving intrinsic neuronal mechanism and external modulators, supporting the need for rational management strategies and treatment interventions.
- Development and validation of a quantitative coronary CT Angiography model for diagnosis of vessel-specific coronary ischemiaPublication . CREDENCE and PACIFIC-1 Investigators; Nurmohamed, Nick S.; Danad, Ibrahim; Jukema, Ruurt A.; Winter, Ruben W. de; Groot, Robin J. de; Driessen, Roel S.; Bom, Michiel J.; Diemen, Pepijn van; Pontone, Gianluca; Andreini, Daniele; Chang, Hyuk Jae; Katz, Richard J.; Stroes, Erik S. G.; Wang, Hao; Chan, Chung; Crabtree, Tami; Aquino, Melissa; Min, James K.; Earls, James P.; Bax, Jeroen J.; Choi, Andrew D.; Knaapen, Paul; Rosendael, Alexander R. van; Heo, Ran; Park, Hyung Bok; Marques, Hugo; Stuijfzand, Wijnand J.; Choi, Jung Hyun; Doh, Joon Hyung; Her, Ae Young; Koo, Bon Kwon; Nam, Chang Wook; Shin, Sang Hoon; Cole, Jason; Gimelli, Alessia; Khan, Muhammad Akram; Lu, Bin; Gao, Yang; Nabi, Faisal; Al-Mallah, Mouaz H.; Nakazato, Ryo; Schoepf, U. Joseph; Thompson, Randall C.; Jang, James J.; Ridner, Michael; Rowan, Chris; Avelar, Erick; Généreux, Philippe; Waard, Guus A. de; Sprengers, Ralf W.Background: Noninvasive stress testing is commonly used for detection of coronary ischemia but possesses variable accuracy and may result in excessive health care costs. Objectives: This study aimed to derive and validate an artificial intelligence-guided quantitative coronary computed tomography angiography (AI-QCT) model for the diagnosis of coronary ischemia that integrates atherosclerosis and vascular morphology measures (AI-QCTISCHEMIA) and to evaluate its prognostic utility for major adverse cardiovascular events (MACE). Methods: A post hoc analysis of the CREDENCE (Computed Tomographic Evaluation of Atherosclerotic Determinants of Myocardial Ischemia) and PACIFIC-1 (Comparison of Coronary Computed Tomography Angiography, Single Photon Emission Computed Tomography [SPECT], Positron Emission Tomography [PET], and Hybrid Imaging for Diagnosis of Ischemic Heart Disease Determined by Fractional Flow Reserve) studies was performed. In both studies, symptomatic patients with suspected stable coronary artery disease had prospectively undergone coronary computed tomography angiography (CTA), myocardial perfusion imaging (MPI), SPECT, or PET, fractional flow reserve by CT (FFRCT), and invasive coronary angiography in conjunction with invasive FFR measurements. The AI-QCTISCHEMIA model was developed in the derivation cohort of the CREDENCE study, and its diagnostic performance for coronary ischemia (FFR ≤0.80) was evaluated in the CREDENCE validation cohort and PACIFIC-1. Its prognostic value was investigated in PACIFIC-1. Results: In CREDENCE validation (n = 305, age 64.4 ± 9.8 years, 210 [69%] male), the diagnostic performance by area under the receiver-operating characteristics curve (AUC) on per-patient level was 0.80 (95% CI: 0.75-0.85) for AI-QCTISCHEMIA, 0.69 (95% CI: 0.63-0.74; P < 0.001) for FFRCT, and 0.65 (95% CI: 0.59-0.71; P < 0.001) for MPI. In PACIFIC-1 (n = 208, age 58.1 ± 8.7 years, 132 [63%] male), the AUCs were 0.85 (95% CI: 0.79-0.91) for AI-QCTISCHEMIA, 0.78 (95% CI: 0.72-0.84; P = 0.037) for FFRCT, 0.89 (95% CI: 0.84-0.93; P = 0.262) for PET, and 0.72 (95% CI: 0.67-0.78; P < 0.001) for SPECT. Adjusted for clinical risk factors and coronary CTA-determined obstructive stenosis, a positive AI-QCTISCHEMIA test was associated with an HR of 7.6 (95% CI: 1.2-47.0; P = 0.030) for MACE. Conclusions: This newly developed coronary CTA-based ischemia model using coronary atherosclerosis and vascular morphology characteristics accurately diagnoses coronary ischemia by invasive FFR and provides robust prognostic utility for MACE beyond presence of stenosis.
- Development of digital self-management support for breast cancer survivors: ensuring evidence-based approaches and patient engagement from concept to implementationPublication . Franzoi, M. A.; Martin, E.; Ferreira, A. R.; Jacq, F.; Gillanders, E.; Meglio, A. Di; Vaz-Luis, I.Background: This study aimed to develop digital self-management programs incorporating evidence-based behavioral interventions to address the physical and psychosocial challenges faced by breast cancer survivors (BCS). Materials and methods: The development was guided by the Medical Research Council framework and involved five steps: (1) needs assessment and consultations with patients and providers (focus groups and surveys), (2) ranking of priority symptoms/conditions (evaluation of patient-reported outcomes within a large cohort), (3) identification of validated self-management programs (literature review), (4) prototype design, testing, and refinement (focus groups with patients for pilot testing), and (5) formal evaluation. This study focused on steps 1-4, including both quantitative and qualitative data collection. Results: In steps 1-2, six priority symptoms/conditions were identified: emotional distress, fatigue, insomnia, musculoskeletal pain, physical inactivity, and high body mass index. In steps 3-4, three digital behavioral programs were developed and tested: physical activity, mindfulness/meditation, and yoga. These programs incorporated educational content, video and podcast exercises, weekly live sessions, and moderated chat groups. During prototype testing, focus groups with 27 patients highlighted high satisfaction with the programs, noting their potential to increase access to care, empower patients, and improve symptom management. Engagement challenges were identified, including digital literacy aspects, the need for flexibility for autonomous practice, and the need for tools to boost motivation. Programs were refined and are being tested in hybrid efficacy implementation trials. Conclusions: Digital self-management programs intended to improve symptom management and quality of life for BCS were developed. By integrating evidence-based content and early patient feedback, these programs have the potential to enhance supportive care access and empower patients. Ongoing trials will assess their clinical efficacy and implementation, with an emphasis on equitable access and engagement across diverse populations.