13 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...
Acute Porphyria Screening Protocol in the Emergency Department: A Strategy for ...
Moreira, Sónia; Ferreira, Filipa; Guimas, Arlindo; Durães, João; Lemos, Carlos; Bajouco, Miguel; Oliveira, AnabelaAcute porphyrias are a group of rare metabolic diseases, arise from defects in the heme biosynthesis pathway. These conditions are clinically characterized by acute neurovisceral attacks, chronic symptoms, and long-term complications. Given the non-specific presentation and the typically low index of clinical suspicion, diagnostic delays are recurrent and result in significant preventable morbimortality. To add...
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...
X-Linked Adrenoleukodystrophy: A Heterogeneous Peroxisomal Disorder you Should ...
Lopes das Neves, Pedro; Durães, João; Monteiro, Isabel; Diogo, Luísa; Macário, Maria do CarmoX-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disease caused by a mutation in gene ABCD1, impairing peroxisomal b-oxidation of very long-chain fatty acids. It has a heterogeneous clinical presentation that may difficult the diagnosis, with three main phenotypes: an Addison syndrome-like phenotype with adrenal insufficiency; a myeloneuropathic form, which progresses as a spastic paraparesis; a cere...
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...
Altered plasma protein profiles in genetic FTD – a GENFI study
Ullgren, Abbe; Öijerstedt, Linn; Olofsson, Jennie; Bergström, Sofia; Remnestål, Julia; van Swieten, John C.; Jiskoot, Lize C.; Seelaar, HarroBackground: Plasma biomarkers reflecting the pathology of frontotemporal dementia would add significant value to clinical practice, to the design and implementation of treatment trials as well as our understanding of disease mechanisms. The aim of this study was to explore the levels of multiple plasma proteins in individuals from families with genetic frontotemporal dementia. Methods: Blood samples from 693 pa...
On the accuracy of code complexity metrics: A neuroscience-based guideline for ...
Hao, Gao; Hijazi, Haytham; Durães, João; Medeiros, Julio; Couceiro, Ricardo; Lam, Chan Tong; Teixeira, César A.; Castelhano, JoãoComplexity is the key element of software quality. This article investigates the problem of measuring code complexity and discusses the results of a controlled experiment to compare different views and methods to measure code complexity. Participants (27 programmers) were asked to read and (try to) understand a set of programs, while the complexity of such programs is assessed through different methods and pers...
Software Bug Detection Causes a Shift From Bottom-Up to Top-Down Effective Conn...
Castelhano, João; Duarte, Isabel C.; Couceiro, Ricardo; Medeiros, Júlio; Durães, João; Afonso, Sónia; Madeira, Henrique; Castelo Branco, MiguelThe neural correlates of software programming skills have been the target of an increasing number of studies in the past few years. Those studies focused on error-monitoring during software code inspection. Others have studied task-related cognitive load as measured by distinct neurophysiological measures. Most studies addressed only syntax errors (shallow level of code monitoring). However, a recent functional...
Reading and Calculation Neural Systems and Their Weighted Adaptive Use for Prog...
Castelhano, João; Duarte, Isabel C.; Durães, João; Madeira, Henrique; Castelo-Branco, MiguelSoftware programming is a modern activity that poses strong challenges to the human brain. The neural mechanisms that support this novel cognitive faculty are still unknown. On the other hand, reading and calculation abilities represent slightly less recent human activities, in which neural correlates are relatively well understood. We hypothesize that calculus and reading brain networks provide joint underpinn...
Neuropsychological features of progranulin-associated frontotemporal dementia: ...
Lima, Marisa; Tábuas-Pereira, Miguel; Duro, Diana; Durães, João; Vieira, Daniela; Baldeiras, Inês; Almeida, Maria do Rosário; Santana, IsabelThe distinction between sporadic and genetic behavioural-variant frontotemporal dementia (bvFTD) regarding some neuropsychological (NP) features remains challenging. Specifically, progranulin (GRN)-associated bvFTD frequently presents with early episodic memory impairment and some degree of parietal dysfunction which are supporters of Alzheimer's disease (AD) diagnosis. In this context, we aimed to characterize...