20 documents found, page 1 of 2
Age-Related Normative Data and Percentile Ranges for Serum Neurofilament Light ...
Spínola, Anuschka; Tábuas-Pereira, Miguel; Leitão, Maria João; Bernardes, Catarina; Lima, Marisa; Durães, João; Freitas, Sandra; Santana, IsabelIntroduction: Blood-based neurofilament light chain (NfL), a neuronal cytoskeleton protein, has proven to be a dynamic and robust biomarker for neurodegeneration. The influence of age on NfL levels has been extensively documented in cerebrospinal fluid studies, with blood quantification showing similar trends. To aid the clinical interpretation of NfL values, it is crucial to establish normal reference interval...
Maternal longevity is associated with reduced risk but an earlier onset of alzh...
Tábuas-Pereira, Miguel; Mano, Francisco; Bernardes, Catarina; Durães, João; Lima, Marisa; DenHaan, Kaitlyn; Paquette, Kimberly; Kun-Rodrigues, CéliaWhile human longevity has increased significantly over the last 2 centuries, the time spent in good physical and cognitive health has not risen proportionately. The incidence of Alzheimer’s disease (AD) increases with age, but parental longevity is often associated with better offspring health and lower AD risk. This study aimed to investigate the relationship between parental longevity and AD. We included pati...
PRRT2-Associated Disorders: A Phenotypic Spectrum of Paroxysms
Bernardes, Catarina; Santos, Constança; Amaral , Joana; Palavra, Filipe; Pereira, Cristina; Ribeiro, JoanaPRRT2 is a presynaptic plasma membrane protein involved in neurotransmitter release. Disorders associated with PRRT2 pathogenic variants are a spectrum of clinical conditions with autosomal dominant inheritance, characterized by a paroxysmal presentation. The three main ones are self-limited infantile epilepsy, paroxysmal kinesigenic dyskinesia, and hemiplegic migraine, but other presentations have been reporte...
Congenital Muscular Dystrophy Type 1A: The Role of Multidisciplinary Rehabilita...
Moreira Sousa, Rui; Bernardes, Catarina; Pires, Gonçalo; Vieira, Carla; Cunha, InêsMerosinopathy is a subtype of muscular dystrophy with recessive autosomal transmission, resulting from an α2-chain-laminin/merosin deficiency. It affects around 1-9/ 1 000 000 individuals. Classically, it is subdivided in two phenotypic categories: one that is more common and severe, known as congenital muscular dystrophy type 1A, and a lesser common form of mild presentation. Congenital muscular dystrophy type...
Impact of the First Year of the COVID-19 Pandemic on Telestroke Network Perform...
V. Carvalho, Inês; Millet Barros, Francisco; Sousa Fernandes, Carolina; Sousa, João; Rodrigues, Ana Isabel; Faustino, Pedro; Martins, EmanuelIntroduction: Although scarce, regional telestroke networks have been developed worlwide in the last few decades. The COVID-19 pandemic put the healthcare system under exceptional pressure. We aimed to assess the impact of the first year of the COVID-19 pandemic on the telestroke network performance in the central region of mainland Portugal. Methods: Retrospective multicenter cohort study including the eight h...
Exploring first-degree family history in a cohort of Portuguese Alzheimer’s dis...
Tábuas-Pereira, Miguel; Bernardes, Catarina; Durães, João; Lima, Marisa; Nogueira, Ana Rita; Saraiva, Jorge; Tábuas, Teresa; Coelho, MarianaAlzheimer’s disease (AD) heritability is estimated to be around 70–80%. Yet, much of it remains to be explained. Studying transmission patterns may help in understanding other factors contributing to the development of AD. In this study, we aimed to search for evidence of autosomal recessive or X- and Y-linked inheritance of risk factors in a large cohort of Portuguese AD patients. We collected family history f...
Reconsidering the role of blood-brain barrier in Alzheimer's disease: From deli...
Sousa, João André; Bernardes, Catarina; Bernardo-Castro, Sara; Lino, Miguel; Albino, Inês; Ferreira, Lino; Brás, José; Guerreiro, RitaThe existence of a selective blood-brain barrier (BBB) and neurovascular coupling are two unique central nervous system vasculature features that result in an intimate relationship between neurons, glia, and blood vessels. This leads to a significant pathophysiological overlap between neurodegenerative and cerebrovascular diseases. Alzheimer's disease (AD) is the most prevalent neurodegenerative disease whose p...
Health professionals’ motivational strategies to enhance adherence in the rehab...
Fernandes, Júlio Belo; Ferreira, Noélia; Domingos, Josefa; Ferreira, Rui; Amador, Catarina; Pardal, Nelson; Castro, Cidália; Simões, AidaPatients with lower limb fractures require rehabilitation but often struggle with adherence to interventions. Adding motivational strategies to rehabilitation programs can increase patient adherence and enhance outcomes. This review aims to identify the motivational strategies used by health professionals in the rehabilitation of people with lower limb fractures. We used Arksey and O’Malley’s methodological fra...
Enablers, barriers and strategies to build resilience among cancer survivors : ...
Fernandes, Júlio Belo; Domingos, Josefa; Almeida, Ana Silva; Castro, Cidália; Simões, Aida; Fernandes, Sónia; Vareta, Diana; Bernardes, CatarinaCancer is a life-threatening illness affecting all dimensions of a person’s health. Cancer survivors must build resilience to face this adversity and continue their life projects. The present study explores the enablers, barriers, and strategies to build resilience among cancer survivors. This qualitative, descriptive exploratory study will use purposive sampling to recruit cancer survivors and healthcare profe...
Nurses’ motivations, barriers, and facilitators to engage in a peer review proc...
Fernandes, Júlio Belo; Domingos, Josefa; Dean, John; Fernandes, Sónia; Ferreira, Rogério; Baixinho, Cristina Lavareda; Castro, Cidália; Simões, AidaPeer review supports the integrity and quality of scientific publishing. However, although it is a fundamental part of the publishing process, peer review can also be challenging for reviewers, editors, and other stakeholders. The present study aims to explore the nurses’ motivations, barriers, and facilitators in engaging in a peer review process. This qualitative, descriptive exploratory study will be develop...