Publications by authors named "LuIs Lopes"

Objective: This systematic review summarizes the literature on the associations between movement behaviors (eg, sleep, sedentary behavior, and physical activity [PA]) and cognition, and academic achievement (AA) in children and adolescents.

Methods: Four electronic databases (PubMed, Embase, PsycINFO, and SPORTDiscus) were searched from inception until October 2023.

Results: This systematic review included 24 reports, representing 48,558 youth aged 6-17.

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Background: Hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death. Current diagnosis emphasizes the detection of left ventricular hypertrophy (LVH) using a fixed threshold of ≥15-mm maximum wall thickness (MWT). This study proposes a method that considers individual demographics to adjust LVH thresholds as an alternative to a 1-size-fits-all approach.

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Background: The utility of diagnostic genetic testing in cardiomyopathy has grown significantly, due to the discovery of novel genes and greater awareness among healthcare professionals. However, a substantial proportion of cases (around 50%) yield no causative genetic variants or have variants of unknown significance (VUS), limiting their use in clinical management and familial screening. The increase in data quantity and quality in reference databases, coupled with variant interpretation guidelines, allows for periodic reanalysis of VUS, potentially reducing diagnostic gaps.

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This study aims to analyze the associations between sleep characteristics, including sleep opportunity, problems and social jetlag, and toddlers' adiposity. It is part of a larger research project involving 344 children (mean ± SD age of 23.6 ± 6.

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Article Synopsis
  • A significant number of patients with cardiomyopathy have undetermined genetic causes, prompting researchers to analyze mtDNA variants in these cases through the 100,000 genomes project.
  • The study scrutinized 1,363 genomes, identifying the pathogenic MT-TI m.4300A>G variant in four hypertrophic cardiomyopathy patients who had previously been undiagnosed, representing 0.6% of HCM cases without a known genetic cause.
  • Findings suggest that MT-TI should be included in the initial genetic testing for non-syndromic hypertrophic cardiomyopathy to aid in diagnosing patients.
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  • The study compares the success and safety of needle-knife fistulotomy (NKF) versus standard cannulation for treating choledocholithiasis during ERCP, finding that NKF is associated with a shorter sphincterotomy.
  • Out of 379 patients analyzed, NKF had a significantly lower initial success rate for stone removal (82.0% vs. 92.1%) compared to standard cannulation, especially for larger stones.
  • While complications like pancreatitis were similar in both groups, the study concludes that NKF is less effective for stone removal, highlighting the differences based on stone size and quantity.
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Background: Among inherited cardiomyopathies involving the left ventricle, whether dilated or not, certain genotypes carry a well-established arrhythmic risk, notably manifested as sustained monomorphic ventricular tachycardia (SMVT). Nonetheless, the precise localization and electrophysiological profile of this substrate remain undisclosed across different genotypes.

Methods: Patients diagnosed with cardiomyopathy and left ventricle involvement due to high-risk genetic variants and SMVT treated by electrophysiological study were recruited from 18 European/US centers.

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Fault detection and diagnosis (FDD) methods and fault-tolerant control (FTC) have been the focus of intensive research across various fields to ensure safe operation, reduce costs, and optimize maintenance tasks. Unmanned aerial vehicles (UAVs), particularly quadcopters or quadrotors, are often prone to faults in sensors and actuators due to their complex dynamics and exposure to various external uncertainties. In this context, this work implements different FDD approaches based on the Kalman filter (KF) for fault estimation to achieve FTC of the quadcopter, considering different faults with nonlinear behaviors and the possibility of simultaneous occurrences in actuators and sensors.

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Article Synopsis
  • * Advanced techniques such as adeno-associated viral vectors and CRISPR-Cas9 are proving to be efficient for gene delivery and repairing genetic issues in humans.
  • * The statement reviews various gene therapy approaches for heart failure and its causes, discusses their clinical applications, and highlights safety concerns and regulatory challenges for future development.
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  • This study investigates heart shape variation beyond just mass and volume, using data from 45,683 UK Biobank participants to create a heart shape atlas via cardiovascular magnetic resonance images.
  • Researchers found 43 significant genetic loci associated with heart shape, including 14 that were previously unknown, showing a link between heart shape and cardiometabolic diseases.
  • Specifically, two shapes tied to more spherical ventricles were linked to a higher risk of atrial fibrillation, contributing new insights into the genetic foundations of heart shape and its impact on health.
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Aims: Left ventricular (LV) ring-like scar on cardiac magnetic resonance (CMR) has been linked to malignant arrhythmias in patients with non-ischemic cardiomyopathy. This study aimed to perform a comprehensive evaluation of this phenotype and to identify risk factors for life-threatening arrhythmic events (LAEs), a composite of sudden cardiac death (SCD), aborted SCD, and sustained ventricular tachycardia.

Methods And Results: One-hundred-fifteen patients (median age 39 [IQR 28-52], 42% females) were identified at 6 referral centres.

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Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiomyopathy and a leading cause of sudden death. Genetic testing and familial cascade screening play a pivotal role in the clinical management of HCM patients. However, conventional genetic tests primarily focus on the detection of exonic and canonical splice site variation.

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Background: Submicroscopic Plasmodium infections can be a source of persistent malaria transmission. The aim of this study was to assess their frequency, distribution, morbidity and associated factors in a pre-elimination malaria setting in sub-Saharan Africa, Guinea-Bissau, where the Plasmodium falciparum is the predominant Plasmodium species.

Methods: Dried fingerprick whole blood samples from 601 participants in the 2017 national, household-based, cross-sectional survey to estimate malaria prevalence were subjected to DNA extraction.

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  • The 24-hour Movement Questionnaire (QMov24h) was developed to effectively measure sleep, sedentary behaviour, and physical activity, aiming to comply with WHO guidelines.
  • The development process involved input from end-users and experts, as well as comparisons to existing measures for validation, resulting in a significant testing sample of 117 participants.
  • Results indicated that the QMov24h has strong validity for measuring various movement behaviours and shows considerable reliability, making it a suitable tool for evaluating compliance with physical activity guidelines in adults.
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Background: With increasing healthcare service utilization and the introduction of costly therapies, healthcare organizations are pressured to deliver cost-effective services within constrained budgets. Rising costs and the need for efficient healthcare delivery are major concerns for governments, insurers, and health plans.

Objectives: It aims to understand the impact of these intangible assets on creating value and organizational resilience in healthcare, informing better practices and strategies for VBHC implementation.

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Introduction: When mental disorders go undetected until later stages, they can result in poorer health outcomes for patients. Primary healthcare (PHC) stands as a strategic setting for the early identification and management of these mental disorders, given its role as the primary care environment for health service users. This scoping review has the objective of mapping and assessing screening instruments validated for mental disorders that are applicable in PHC, particularly regarding their measurement properties.

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Article Synopsis
  • * Conducted with data from the UK Biobank, which included extensive genetic, electrocardiogram, and imaging data from nearly 470,000 participants, the study found that 0.1% carried likely pathogenic TTR variants.
  • * Results showed a significant difference in variant prevalence based on ancestry, with a 0.02% prevalence in individuals of European ancestry versus 4.3% in those of African ancestry, highlighting the need for more targeted research and awareness.
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Purpose: Hyperthyroidism guidelines have not been updated over the past five years, despite numerous data on the subject, and recent studies providing a wide variation in treatment success rates. We aim to compare the effectiveness and safety of treatment modalities in patients with Graves' disease or toxic nodular disease.

Methods: Single center retrospective cohort study of Graves' disease and toxic nodular disease patients treated between 1983 and 2023.

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Objective: There is limited information regarding the incidence of treatment-related adverse events (AE) following antiretroviral therapy (ART) in women. So, this review aimed to describe the incidence of AE of ART in women living with HIV/AIDS.

Design: Systematic review and meta-analysis.

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Background: Carbon dioxide (CO), traditionally viewed as a mere byproduct of cellular respiration, plays a multifaceted role in human physiology beyond simple elimination through respiration. CO may regulate the tumor microenvironment by significantly affecting the release of oxygen (O) to tissues through the Bohr effect and by modulating blood pH and vasodilation. Previous studies suggest hypercapnia (elevated CO levels) might trigger optimized cellular mechanisms with potential therapeutic benefits.

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Introduction: Ulcerative colitis is an inflammatory disorder characterized by chronic inflammation in the gastrointestinal tract, mainly in the colon and rectum. Although the precise etiology of ulcerative colitis remains unclear, recent research has underscored the significant role of the microbiome in its development and progression.

Methods: The aim of this study was to establish a relationship between the levels of specific gut bacterial species and disease relapse in ulcerative colitis.

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Background: Patients with refractory, symptomatic left ventricular (LV) mid-cavity obstructive (LVMCO) hypertrophic cardiomyopathy have few therapeutic options. Right ventricular pacing is associated with modest hemodynamic and symptomatic improvement, and LV pacing pilot data suggest therapeutic potential. We hypothesized that site-specific pacing would reduce LVMCO gradients and improve symptoms.

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Pathogenic variation in genes encoding proteins of the cardiac sarcomere is responsible for 30%-40% of cases of hypertrophic cardiomyopathy. The main clinical utility of genetic testing is to provide diagnostic confirmation and facilitation of family screening. It also assists in the detection of aetiologies, which require distinct monitoring and treatment approaches.

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Article Synopsis
  • The study investigates mitral annulus disjunction (MAD) using cardiac MRI in a group of 222 patients with an average age of 49.2 years, primarily male (56.8%).
  • MAD is identified by a separation of 2 mm or more between the left ventricular myocardium and the mitral annulus, and the study analyzes late gadolinium enhancement (LGE) patterns and ventricular arrhythmias (VA).
  • Results show that although non-sustained ventricular arrhythmias were more common in patients with greater MAD extent, no strong relationship between LGE and MAD severity was found, with no observed sustained VAs during the follow-up period of approximately 4 years.
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Introduction: This study aimed to perform a cross-cultural adaptation of the cat-owner/dog-owner relationship scales. The method involved several stages: conceptual, item, semantic, operational, measurement, and functional equivalence. Procedures included translation, synthesis of translations, back-translation, consensus on the English versions, external evaluation by the original authors, expert committee evaluation, and pre-tests.

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