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- Managing Musculoskeletal Pain in Older Adults Through a Digital Care Solution: Secondary Analysis of a Prospective Clinical StudyPublication . Areias, Anabela C; Janela, Dora; Molinos, Maria; Moulder, Robert G; Bento, Virgílio; Yanamadala, Vijay; Cohen, Steven P; Dias Correia, Fernando; Costa, FabíolaBackground: Aging is closely associated with an increased prevalence of musculoskeletal conditions. Digital musculoskeletal care interventions emerged to deliver timely and proper rehabilitation; however, older adults frequently face specific barriers and concerns with digital care programs (DCPs). Objective: This study aims to investigate whether known barriers and concerns of older adults impacted their participation in or engagement with a DCP or the observed clinical outcomes in comparison with younger individuals. Methods: We conducted a secondary analysis of a single-arm investigation assessing the recovery of patients with musculoskeletal conditions following a DCP for up to 12 weeks. Patients were categorized according to age: ≤44 years old (young adults), 45-64 years old (middle-aged adults), and ≥65 years old (older adults). DCP access and engagement were evaluated by assessing starting proportions, completion rates, ability to perform exercises autonomously, assistance requests, communication with their physical therapist, and program satisfaction. Clinical outcomes included change between baseline and program end for pain (including response rate to a minimal clinically important difference of 30%), analgesic usage, mental health, work productivity, and non-work-related activity impairment. Results: Of 16,229 patients, 12,082 started the program: 38.3% (n=4629) were young adults, 55.7% (n=6726) were middle-aged adults, and 6% (n=727) were older adults. Older patients were more likely to start the intervention and to complete the program compared to young adults (odds ratio [OR] 1.72, 95% CI 1.45-2.06; P<.001 and OR 2.40, 95% CI 1.97-2.92; P<.001, respectively) and middle-aged adults (OR 1.22, 95% CI 1.03-1.45; P=.03 and OR 1.38, 95% CI 1.14-1.68; P=.001, respectively). Whereas older patients requested more technical assistance and exhibited a slower learning curve in exercise performance, their engagement was higher, as reflected by higher adherence to both exercise and education pieces. Older patients interacted more with the physical therapist (mean 12.6, SD 18.4 vs mean 10.7, SD 14.7 of young adults) and showed higher satisfaction scores (mean 8.7, SD 1.9). Significant improvements were observed in all clinical outcomes and were similar between groups, including pain response rates (young adults: 949/1516, 62.6%; middle-aged adults: 1848/2834, 65.2%; and older adults: 241/387, 62.3%; P=.17). Conclusions: Older adults showed high adherence, engagement, and satisfaction with the DCP, which were greater than in their younger counterparts, together with significant clinical improvements in all studied outcomes. This suggests DCPs can successfully address and overcome some of the barriers surrounding the participation and adequacy of digital models in the older adult population.
- The potential of a multimodal digital care program in addressing healthcare inequities in musculoskeletal pain managementPublication . Areias, Anabela C.; Molinos, Maria; Moulder, Robert G.; Janela, Dora; Scheer, Justin K.; Bento, Virgílio; Yanamadala, Vijay; Cohen, Steven P.; Dias Correia, Fernando; Costa, FabíolaDigital interventions have emerged as a solution for time and geographical barriers, however, their potential to target other social determinants of health is largely unexplored. In this post-hoc analysis, we report the impact of social deprivation on engagement and clinical outcomes after a completely remote multimodal musculoskeletal (MSK) digital care program managed by a culturally-sensitive clinical team. Patients were stratified in five categories according to their social deprivation index, and cross-referenced with their race/ethnicity, rurality and distance to healthcare facilities. From a total of 12,062 patients from all U.S. states, 8569 completed the program. Higher social deprivation was associated with greater baseline disease burden. We observed that all categories reported pain improvements (ranging from -2.0 95%CI -2.1, -1.9 to -2.1 95%CI -2.3, -1.9, p < 0.001) without intergroup differences in mean changes or responder rates (from 59.9% (420/701) to 66.6% (780/1172), p = 0.067), alongside reduction in analgesic consumption. We observed significant improvements in mental health and productivity across all categories, with productivity and non-work-related functional recovery being greater within the most deprived group. Engagement was high but varied slightly across categories. Together these findings highlight the importance of a patient-centered digital care program as a tool to address health inequities in musculoskeletal pain management. The idea of investigating social deprivation within a digital program provides a foundation for future work in this field to identify areas of improvement.
- Female preponderance in genetic generalized epilepsiesPublication . Videira, Gonçalo; Gabriel, Denis; Freitas, Joel; Samões, Raquel; Chorão, Rui; Lopes, João; Ramalheira, João; Ramalheira, João E.P.; Lemos, Carolina; Leal, Bárbara; da Silva, António Martins; Chaves, JIntroduction: Epilepsy is more prevalent in men but Genetic Generalized Epilepsies (GGE) seem to be more common in women. A predominant maternal inheritance has been previously described in GGE. Our objective was to determine sex and inheritance patterns in a GGE population compared to mesial temporal lobe epilepsy with hippocampal sclerosis (MTLEHS). Methods: We performed a prospective observational study including adult GGE and MTLEHS patients followed up at a tertiary epilepsy center from January 2016 to December 2019. Patients' familial history was obtained by a detailed questionnaire. Clinical and demographic data was retrieved from clinical notes. Results: A cohort of 641 patients, 403 with GGE and 238 with MTLEHS, was analyzed. GGE was more common in women than MTLEHS (58.8% vs 44.5%, OR=1.63, p = 0.004). Compared to MTLEHS patients, more GGE patients had familial history of epilepsy (45.4% vs 25.2%; p<0.001). The GGE group had a higher percentage of female relatives with epilepsy (55% vs 37%; p = 0.006). The prevalence of maternal inheritance was not different between GGE and MTLEHS groups (62.9% vs 57.7%; p = 0.596). Photosensitivity was more common in females than in males (44.7% vs 34.3%, p = 0.036). Conclusion: There is a female preponderance in GGE when compared to MTLEHS, as both GGE patients and their affected relatives are more frequently women. The prevalence of maternal inheritance was not higher in GGE than in MTLEHS.
- Timely and Blood-Based Multiplex Molecular Profiling of Acute StrokePublication . Dias, Alexandre; Silva, Isabel; Pinto, Inês Mendes; Maia, LuisStroke is a leading cause of death and disability in the world. To address such a problem, early diagnosis and tailored acute treatment represent one of the major priorities in acute stroke care. Since the efficacy of reperfusion treatments is highly time-dependent, there is a critical need to optimize procedures for faster and more precise diagnosis. We provide a concise review of the most relevant and well-documented blood-protein biomarkers that exhibit greater potential for translational to clinical practice in stroke differential diagnosis and to differentiate ischemic stroke from hemorrhagic stroke, followed by an overview of the most recent point-of-care technological approaches to address this problem. The integration of fluid-based biomarker profiling, using point-of-care biosensors with demographic, clinical, and neuroimaging parameters in multi-dimensional clinical decision-making algorithms, will be the next step in personalized stroke care.
- Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case reportPublication . Damásio, Joana; Sardoeira, Ana; Araújo, Maria; Carvalho, Isabel; Sequeiros, Jorge; Barros, JoséBackground: Friedreich ataxia is the most frequent hereditary ataxia worldwide. Subclinical visual and auditory involvement has been recognized in these patients, with co-occurrence of severe blindness and deafness being rare. Case report: We describe a patient, homozygous for a 873 GAA expansion in the FXN gene, whose first symptoms appeared by the age of 8. At 22 years-old he developed sensorineural deafness, and at 26 visual impairment. Deafness had a progressive course over 11 years, until a stage of extreme severity which hindered communication. Visual acuity had a catastrophic deterioration, with blindness 3 years after visual impairment was first noticed. Audiograms documented progressive sensorineural deafness, most striking for low frequencies. Visual evoked potentials disclosed bilaterally increased P100 latency. He passed away at the age of 41 years old, at a stage of extreme disability, blind and deaf, in addition to the complete phenotype of a patient with Friedreich ataxia of more than 30 years duration. Discussion: Severe vision loss and extreme deafness has been described in very few patients with Friedreich ataxia. Long duration, severe disease and large expanded alleles may account for such an extreme phenotype; nonetheless, the role of factors as modifying genes warrants further investigation in this subset of patients.
- Digital Rehabilitation for Acute Ankle Sprains: Prospective Longitudinal Cohort StudyPublication . Dias Correia, Fernando; Molinos, Maria; Neves, Carlos; Janela, Dora; Carvalho, Diana; Luis, Sara; Francisco, Gerard E; Lains, Jorge; Bento, VirgilioBackground: Ankle sprains are one of the most prevalent soft-tissue injuries worldwide. Physical therapy, especially progressive exercise, has proven effective in improving function, while preventing recurrence. Objective: We aim to present the results of a fully remote and digitally guided rehabilitation program for acute ankle sprains. Methods: We performed a prospective longitudinal cohort study of individuals eligible for workers' compensation, who were referred for digital rehabilitation therapy for a sprained ankle. Therapeutic exercise sessions were to be performed independently by the patient at home using the biofeedback device provided by SWORD Health. Primary endpoints were the change in self-reported Numerical Pain Rating Scale (NPRS) and Foot and Ankle Ability Measure-activities of daily living (FAAM-ADL) and FAAM-Sports scores. Participants were assessed at baseline, end of the program, and 6 months after program completion. Secondary outcomes included digital therapy dosage, pain and fatigue during sessions, and satisfaction. Results: In total, 93 (89.4%) patients completed the program and 79 (76.0%) were available for follow-up. Changes in the primary outcomes between baseline and the 6-month follow-up were both significant (P<.001) and clinically meaningful: mean difference of -2.72 points (95% CI -3.31 to -2.13) on the NPRS (49.8% reduction), 21.7 points (95% CI 17.13-26.27) on the FAAM-ADL (41.1% increase), and 37.8 points (95% CI 30.45-45.15) on the FAAM-Sports (151.8% increase). Longer waiting periods between the accident date and treatment initiation were found to negatively impact functional status at baseline and at the end of the program, triggering an extension in the program duration. The total training volume (12.5 hours, SD 10.5 hours) was similar to that of other interventions for ankle sprains, but the dosage per week was much higher (2.4 hours per week, SD 0.87 hours per week). The mean patient satisfaction score was 8.8 (SD 1.57) out of 10. Among program completers, 83.9% attained full recovery and were discharged with no residual disability. Conclusions: Being far less demanding in terms of human resources, the digital program presented constituted a viable, clinically effective, and convenient solution for ankle sprain rehabilitation, particularly during the pandemic. This is the first study presenting a fully remote home-based rehabilitation program for acute ankle sprains, with patients achieving sustained long-term results. This was a prospective cohort study and, as such, did not include a control group, but the results appear comparable to those published for face-to-face interventions.
- Advantages of an Automated Method Compared With Manual Methods for the Quantification of Intraepidermal Nerve Fiber in Skin BiopsyPublication . Corrà, Marta; Sousa, Mafalda; Reis, Inês; Tanganelli, Fabiana; Vila-Chã, Nuno; Sousa, Ana Paula; Magalhães, Rui; Sampaio, Paula; Taipa, Ricardo; Maia, LuisIntraepidermal nerve fiber density (IENFD) measurements in skin biopsy are performed manually by 1-3 operators. To improve diagnostic accuracy and applicability in clinical practice, we developed an automated method for fast IENFD determination with low operator-dependency. Sixty skin biopsy specimens were stained with the axonal marker PGP9.5 and imaged using a widefield fluorescence microscope. IENFD was first determined manually by 3 independent observers. Subsequently, images were processed in their Z-max projection and the intradermal line was delineated automatically. IENFD was calculated automatically (fluorescent images automated counting [FIAC]) and compared with manual counting on the same fluorescence images (fluorescent images manual counting [FIMC]), and with classical manual counting (CMC) data. A FIMC showed lower variability among observers compared with CMC (interclass correlation [ICC] = 0.996 vs 0.950). FIMC and FIAC showed high reliability (ICC = 0.999). A moderate-to-high (ICC = 0.705) was observed between CMC and FIAC counting. The algorithm process took on average 15 seconds to perform FIAC counting, compared with 10 minutes for FIMC counting. This automated method rapidly and reliably detects small nerve fibers in skin biopsies with clear advantages over the classical manual technique.
- Multiple Sclerosis Patient Management During the COVID-19 Pandemic: Practical Recommendations From the Portuguese Multiple Sclerosis Study Group (GEEM)Publication . Cerqueira, João J.; Ladeira, Ana F.; Martins da Silva, Ana; Timóteo, Ângela; Vale, José; Sousa, Lívia; Arenga, Marta; Abreu, Pedro; Guerreiro, Rui; de Sá, JoãoThe spread of the COVID-19 pandemic has imposed significant challenges on healthcare provision, requiring changes in the conventional patient management, particularly in chronic diseases like multiple sclerosis (MS). To increase patient safety and reduce the risk of infection, while ensuring an appropriate and regular follow-up, tele-medicine gained prominence as a valid alternative to face-to-face appointments. However, the urgency of the implementation and the lack of experience in most MS centers led to "ad hoc" and extremely diverse approaches, which now merit to be standardized and refined. Indeed, while tele-consultation cannot fully replace face-to-face visits, it certainly can, and will, be incorporated as part of the routine care of MS patients in the near future. Bearing this in mind, the Portuguese Multiple Sclerosis Study Group (GEEM) has developed a set of recommendations for the usage of tele-medicine in the management of MS patients, both during the pandemic and in the future. The consensus was obtained through a two-step modified Delphi methodology, resulting in 15 recommendations, which are detailed in the manuscript.
- Brain Calcifications in Complex Sexual AneuploidyPublication . Oliveira, Vanessa; Pedro Rocha, José; Candeias, Cristina; Oliva‐Teles, Natália; Damásio, Joana
- REALMS study: real-world effectiveness and safety of fingolimod in patients with relapsing-remitting multiple sclerosis in PortugalPublication . Batista, S.; Nunes, C. C.; Cerqueira, J. J.; Martins da Silva, Ana; Correia de Sá, J.; Ferreira, J.; Mendonça, M. T.; Pinheiro, J.; Salgado, V.; Correia, A. S.; Sequeira, J.; Costa, A.; Sousa, L.ackground: Fingolimod, an oral sphingosine 1-phosphate receptor modulator, is approved by EMA for relapsing-remitting multiple sclerosis (RRMS). Objectives: To assess the effectiveness and safety of fingolimod in patients with RRMS in real-world clinical practice in Portugal. Methods: Retrospective, multicentre, non-interventional study, reporting 3 years follow-up of data collected from October 2015 to July 2016. Sociodemographic data and previous treatments at baseline and data regarding disease evolution, including number of relapses, annualised relapse rates (ARR) and Expanded Disability Status Scale (EDSS), were collected. Results: Two-hundred and seventy-five participants were enrolled in the REALMS study. Results showed that the main reason to switch to fingolimod was failure of previous treatment (56.7%) and only 3.6% were naïve patients. In the total population, there was a significant decrease in ARR of 64.6% in the first year of treatment, 79.7% in the second year and 82.3% in the third year, compared with baseline. More than 67.0% of patients had no relapses during the 3 years after switching to fingolimod. EDSS remained stable throughout the study. Conclusions: Therapy with fingolimod showed a sustained effectiveness and safety over the 3 years, particularly on patients switched from first-line drugs (BRACE). No new safety issues were reported.