Publications by authors named "Jorge Oliveira"

Article Synopsis
  • Adult-onset leukodystrophies are rare neurological disorders that lead to the degeneration of white matter in the brain, with one case linked to a novel gene variant.
  • A 40-year-old patient presented with chronic headaches and a history of depression, showing significant brain changes on MRI, along with two genetic variants identified through whole-exome sequencing.
  • This case highlights the variable presentations of adult-onset leukodystrophies and suggests that some genetic variants may result in milder symptoms than typically expected.
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Article Synopsis
  • Research data management (RDM) is crucial for implementing FAIR and Open Science principles, leading to the development of valuable tools and resources for effective data management in scientific research.
  • Despite the valuable resources produced by ELIXIR Platforms and Nodes, they are currently scattered, creating challenges in their application and dissemination, highlighting the need for coordinated RDM efforts.
  • The proposed ELIXIR RDM Community aims to unify RDM experts, enhance knowledge exchange, provide training, and develop best practices, thereby strengthening RDM skills and addressing the evolving needs within the scientific community.
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Mimosa tenuiflora (Fabaceae) is popularly known in Brazil as "Jurema preta". From the bark of its root, "jurema wine" is obtained, a psychedelic drink used in Indigenous religious rituals in Northeastern Brazil. This work aimed to investigate the chemical composition and acute oral toxicity of the ethanolic extract of the root bark from M.

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Introduction And Objectives: New drugs for metastatic castrate resistant prostate cancer (mCRPC) were approved, first in the pos-docetaxel and then in the pre-docetaxel setting. We aim to assess the real daily practice benefit of abiraterone (Abi), enzalutamide (Enz) and cabazitaxel (Cab) in patients with mCRPC, compare it with RCT results and compare Abi vs Enz.

Materials And Methods: We retrospectively collected the data of all consecutive mCRPC patients treated with Abi, Enz or Cab in the six major oncological hospitals in the north of Portugal until December 2020.

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An increasing number of consumers demand healthier, more convenient, and sustainable food products, including rice, a staple worldwide. Food manufacturers have responded to this trend by considering food's intrinsic and extrinsic aspects. This study evaluated the importance of variety, processing, and claims on willingness to try ready-to-eat rice (RTE-rice).

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Design thinking (DT) has been a subject of extensive debate and application across diverse knowledge domains, including the realm of food; nonetheless, its precise definition remains unclear. This systematic review comprised two components. Firstly, it examined the evolving understanding of DT by aggregating pertinent studies selected based on their representativeness, determined by the volume of citations.

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Spinocerebellar ataxias (SCA) are most frequently due to (CAG) (coding for polyglutamine, polyQ) expansions and, less so, to expansion of other oligonucleotide repeats (non-polyQ) or other type of variants (non-repeat expansion SCA). In this study we compared polyQ and non-repeat expansion SCA, in a cohort of patients with hereditary ataxia followed at a tertiary hospital. From a prospective study, 88 patients (51 families) with SCA were selected, 74 (40 families) of whom genetically diagnosed.

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Attention Deficit Hyperactivity Disorder (ADHD) is characterized by inappropriate levels of activity, impulsivity, and inattention. Developmental Coordination Disorder (DCD) is a condition involving challenges in acquiring and executing motor skills. This cross-sectional study aimed to distinguish motor symptoms between ADHD and ADHD/DCD.

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Developmental diseases are challenging to investigate due to their clinical heterogeneity and relatively low prevalence. The Wolcott-Rallison Syndrome (WRS) is a rare developmental disease characterized by skeletal dysplasia and permanent neonatal diabetes due to loss-of-function mutations in the endoplasmic reticulum stress kinase PERK (EIF2AK3). The lack of efficient and less invasive therapies for WRS highlights the need for new animal models that replicate the complex pathological phenotypes, while preserving scalability for drug screening.

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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease in which the death of motor neurons leads to loss of muscle function. Additionally, cognitive and circadian disruptions are common in ALS patients, contributing to disease progression and burden. Most ALS cases are sporadic, and environmental exposures contribute to their aetiology.

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Policing is a highly demanding and stressful profession. Virtual reality (VR) has emerged as a promising tool for enhancing stress management programs, including for police officers. The use of VR in combination with biosensors enables measurement of psychophysiological responses such as peripheral temperature (PT) and skin conductance level (SCL).

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Current consumption drivers, particularly those related to health and wellbeing, have been influencing trends for the lower consumption of cereals, particularly rice, due to their typical high glycaemic index (GIs) and consequent impacts on obesity. To satisfy this consumer concern, more food innovations that promote healthy eating habits are required. Such innovations must be consumer-oriented to succeed, understanding the dynamics of consumer habits and responding to consumer expectations.

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Automatic diagnosis systems capable of handling multiple pathologies are essential in clinical practice. This study focuses on enhancing precise lesion localization, classification and delineation in transurethral resection of bladder tumor (TURBT) to reduce cancer recurrence. Despite deep learning models success, medical applications face challenges like small and limited datasets and poor image characterization, including the absence lack of color/texture modeling.

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Purpose: To examine the effectiveness of a supervised exercise training program (SETP) on health-related quality of life (HRQoL) and functional capacity in women with breast cancer (BC) undergoing chemotherapy.

Methods: Ninety-three women with early-stage BC were randomly allocated to a SETP plus usual care (exercise, n = 47) or usual care alone (UC, n = 46). The SETP included three sessions per week, combining aerobic and resistance training, conducted concurrently over the chemotherapy.

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Patient characteristics may influence access and acceptance of Prostate Specific Antigen test, and therefore, the timing of prostate cancer (PCa) diagnosis. A group of 361 patients from a cohort (n = 451) diagnosed with PCa in 2018-2020 at the Portuguese Institute of Oncology of Porto was evaluated before treatment, using a structured interview, the Medical Term Recognition Test, and the EORTC Quality of Life Questionnaire QLQ-PR25. PCa prognostic stages (I, II, III, IV) were attributed according to the American Joint Committee on Cancer eighth edition.

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Background: Food aesthetics influences affective dimensions (valence and arousal) and subsequent emotional and behavioural responses in images presented in more traditional form, almost rustic in some cases, to the signature dishes of haute cuisine. However, the visual impact of images of haute cuisine dishes on consumers' affective and emotional responses compared to traditional dishes is still understudied.

Methods: We recorded electrodermal activity, ocular movements and self-report affect of 35 volunteers while they performed a picture viewing paradigm using images of haute cuisine food, traditional food, and non-food.

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Personality theory based on affective neuroscience research suggests the presence of seven affective neurobiological systems. These dimensions have been identified using psychometric instruments such as the Affective Neuroscience Personality Scales (ANPS) and its brief version known as the Brief Affective Neuroscience Personality Scales (BANPS). Despite being a psychometric valid instrument, the BANPS was not adapted to European Portuguese.

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Cardiac auscultation is an accessible diagnostic screening tool that can help to identify patients with heart murmurs, who may need follow-up diagnostic screening and treatment for abnormal cardiac function. However, experts are needed to interpret the heart sounds, limiting the accessibility of cardiac auscultation in resource-constrained environments. Therefore, the George B.

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Background And Objectives: The spectrum has become considerably expanded as multisystemic features beyond the triad of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) have started to be unveiled, although many still require clinical replication. Here, we aimed to clinically characterize a cohort of -positive patients by addressing both classic and multisystemic features. In a second part of this study, we prospectively assessed small nerve fibers (SNF) and autonomic function in a subset of these -related patients.

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Stress response pathways like the integrated stress response (ISR), the mitochondrial unfolded protein response (UPR) and the heat shock response (HSR) have emerged as part of the pathophysiology of neurodegenerative diseases, including Huntington's disease (HD) - a currently incurable disease caused by the production of mutant huntingtin (mut-Htt). Previous data from HD patients suggest that ISR is activated while UPR and HSR are impaired in HD. The study of these stress response pathways as potential therapeutic targets in HD requires cellular models that mimic the activation status found in HD patients of such pathways.

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Introduction: The sexual life of a couple is a dynamic entity, in which the two influence each other mutually, thus the existence of female sexual dysfunction (FSD) can influence the treatment of the man who seeks clinical help. Identify sexual dysfunction in female partners of patients attending an andrology clinic may provide a therapeutic opportunity. The authors aim to assess proportion of FSD in this population by comparison with a control group.

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