Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.

Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.

Predictive equation derived from 6,497 doubly labelled water measurements enables the detection of erroneous self-reported energy intake.

Nutritional epidemiology aims to link dietary exposures to chronic disease, but the instruments for evaluating dietary intake are inaccurate. One way to identify unreliable data and the sources of errors is to compare estimated intakes with the total energy expenditure (TEE). In this study, we used the International Atomic Energy Agency Doubly Labeled Water Database to derive a predictive equation for TEE using 6,497 measures of TEE in individuals aged 4 to 96 years.

From ideation to real context of use of a digital solution to promote physical and cognitive training for older adults.

This study describes the process of designing and developing the user interface of a digital solution aiming to promote physical and cognitive training (DanceMove) and testing for its usability by community-dwelling older adults. This study is subdivided into four phases: (i) concept and ideation, (ii) design and development of the prototype, (iii) testing of the functional mock-ups, and (iv) testing of the prototype in the laboratory and in the real context of use. Through the different phases of the study technological and healthcare professionals and users were involved.

Trapping Anions within Stacks of Tetra-Urea Macrocycles.

Designing molecular receptors that bind anions in water is a significant challenge, and an even greater difficulty lies in using these receptors to remove anions from water without resorting to the hazardous liquid-liquid extraction approach. We here demonstrate an effective and synthetically simple strategy toward these goals by exploiting ion-pair assembly of macrocycles. Our anion binding ensemble consists of an octa-chloro tetra-urea macrocyclic anion receptor (ClTU), which forms water-dispersible aggregates, and a tetra-cationic fluorescent dye 5,10,15,20-tetrakis(1-methyl-4-pyridinio)porphyrin (TMPyP4), which provides Coulombic stabilization and fluorescence reporting of anion binding in an ion-pair assembly.

Heterotypic spheroids as a strategy for 3D culture of cryopreserved primary human hepatocytes in stirred-tank systems.

Primary human hepatocytes (PHHs) are the preferred cell source to address liver function. Despite originating from the native tissue, one of the bottlenecks when using primary material is the donor-to-donor variability. Cryopreserved PHHs offer a high number of cells from the same donor and standardization of cell isolation and cryopreservation procedures, mitigating some of the inter-donor variability.

Relationship between severe hypoglycemia or impaired awareness of hypoglycemia and diabetes-related health status, global cognition and executive functions in adults with type 1 diabetes without severe anxiety or depression.

Aims: To explore the relationship between impaired awareness of hypoglycemia (IAH) or severe hypoglycemia (SH), and health status and cognition in adults with type 1 diabetes (T1D).

Methods: T1D adults attending a tertiary diabetes service were recruited into this cross-sectional study. People screening positive for severe anxiety or depression were not included.

Worldwide Policy, Surveillance, and Research on Physical Education and School-Based Physical Activity: The Global Observatory for Physical Education (GoPE!) Conceptual Framework and Research Protocol.

Introduction: The Global Observatory for Physical Education (GoPE!) builds on the Global Observatory for Physical Activity (GoPA!) to address gaps in surveillance, policy, and research on physical education (PE) and activity (PA). GoPE! is a worldwide surveillance system of quality PE and school-based PA that informs policy and interventions and allows comparative analysis so that each country and region can check their status and progress. This paper presents GoPE!'s conceptual framework and describes the research protocol as a cross-continental and evidence-based surveillance system.

Generative adversarial networks with fully connected layers to denoise PPG signals.

Objective: The detection of arterial pulsating signals at the skin periphery with Photoplethysmography (PPG) are easily distorted by motion artifacts. This work explores the alternatives to the aid of PPG reconstruction with movement sensors (accelerometer and/or gyroscope) which to date have demonstrated the best pulsating signal reconstruction.

Approach: A generative adversarial network with fully connected layers (FC-GAN) is proposed for the reconstruction of distorted PPG signals.

Relative fire-proneness of land cover types in the Brazilian Atlantic forest.

Fires are increasingly affecting tropical biomes, where landscape-fire interactions remain understudied. We investigate the fire-proneness-the likelihood of a land use or land cover (LULC) type burning more or less than expected based on availability-in the Brazilian Atlantic Forest (AF). This biodiversity hotspot is increasingly affected by fires due to human activities and climate change.

Epidemiological methods in transition: Minimizing biases in classical and digital approaches.

Epidemiology and Public Health have increasingly relied on structured and unstructured data, collected inside and outside of typical health systems, to study, identify, and mitigate diseases at the population level. Focusing on infectious diseases, we review the state of Digital Epidemiology at the beginning of 2020 and how it changed after the COVID-19 pandemic, in both nature and breadth. We argue that Epidemiology's progressive use of data generated outside of clinical and public health systems creates several technical challenges, particularly in carrying specific biases that are almost impossible to correct for a priori.

Effects of Exergaming on Physical Fitness of Youth with Overweight and Obesity: A Systematic Review with Meta-Analysis.

Due to the exponential growth in technology, exergames emerged as a potential tool to foster physical activity (PA) levels. This study provides an overall view of the literature on the effects of exergaming on physical fitness components among overweight and obese children and adolescents. A systematic review and meta-analysis following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines was performed in the PubMed, Web of Science, and Scopus databases.

Five-Year Results With Patisiran for Hereditary Transthyretin Amyloidosis With Polyneuropathy: A Randomized Clinical Trial With Open-Label Extension.

Importance: There is a lack of long-term efficacy and safety data on hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) and on RNA interference (RNAi) therapeutics in general. This study presents the longest-term data to date on patisiran for hATTR-PN.

Objective: To present the long-term efficacy and safety of patisiran in adults with hATTR-PN.

Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART Study.

Background And Objectives: Safety and efficacy of IV onasemnogene abeparvovec has been demonstrated for patients with spinal muscular atrophy (SMA) weighing <8.5 kg. SMART was the first clinical trial to evaluate onasemnogene abeparvovec for participants weighing 8.

Macrophages co-loaded with drug-associated and superparamagnetic nanoparticles for triggered drug release by alternating magnetic fields.

Two features of macrophages make them attractive for targeted transport of drugs: they efficiently take up a broad spectrum of nanoparticles (NPs) and, by sensing cytokine gradients, they are attracted to the sites of infection and inflammation. To expand the potential of macrophages as drug carriers, we investigated whether macrophages could be simultaneously coloaded with different types of nanoparticles, thus equipping individual cells with different functionalities. We used superparamagnetic iron oxide NPs (SPIONs), which produce apoptosis-inducing hyperthermia when exposed to an alternating magnetic field (AMF), and co-loaded them on macrophages together with drug-containing NPs (inorganic-organic nanoparticles (IOH-NPs) or mesoporous silica NPs (MSNs)).

Assessment of DFT Functionals for Structural Determination of Lanthanide(III) Complexes Using Ligand Field Splitting.

Lanthanide (Ln) tetrakis complexes, C[Ln(L)], are important for applications due to their high quantum yields, solubility, and stability. Their luminescent properties depend on the structure, particularly the coordination polyhedron, the assessment of computational methods for calculating their structures is paramount. Usually, this assessment uses the RMSD of distances in the [Ln(L)] complex or {LnO} polyhedron between crystallographic and calculated structures.

Interlocked 2D Covalent Organic Frameworks from Overcrowded Nodes.

A challenging aspect in the synthesis of covalent organic frameworks (COFs) that goes beyond the framework's structure and topology is interpenetration, where two or more independent frameworks are mechanically interlocked with each other. Such interpenetrated or interlocked frameworks are commonly found in three-dimensional (3D) COFs with large pores. However, interlocked two-dimensional (2D) COFs are rarely seen in the literature, as 2D COF layers typically crystallize in stacks that maximize stabilization through π-stacking.

Managing depression in the elderly: real-world clinical considerations and perspectives.

This study aims to elucidate current trends in clinical practice for managing depression in elderly patients, focusing on the utilization of pharmacotherapeutics and integrated care models to improve patient outcomes. A comprehensive survey was conducted among physicians from various European countries to gather insights into prescribing habits, treatment patterns, and the impact of comorbidities on therapeutic choices, with a focus on trazodone. The participants included psychiatrists, general practitioners, and neurologists actively involved in elderly depression care.

Time to standardize educational competencies on EBP: the benefits of a common core framework.

Principles, theories, and models of education for health professionals have not evolved in parallel with advanced requirements for evidence-based practice (EBP). We propose that groups such as JBI, with a global network of clinical and academic centers, are well placed to reignite the debate and advance evidence-based curriculum development. This can be achieved by operationalizing the JBI Model for Evidence-Based Healthcare within the Sicily statement's pedagogical framework.

Lung Cancer Screening With Low-Dose CT: A Systematic Review.

Lung cancer is highly prevalent worldwide and is the leading cause of cancer-related death in Portugal. There is increasing evidence that low-dose computed tomography (LDCT) screening reduces mortality; however, few countries have implemented screening strategies. This review aims to gather the best evidence to assess the relevance of implementing lung cancer screening.

Chondrodysplasia Punctata: Early Diagnosis and Multidisciplinary Management of Conradi-Hünermann-Happle Syndrome (CDPX2).

Chondrodysplasia punctata (CP) is a rare skeletal dysplasia characterized by punctate calcifications in areas of endochondral ossification, with Conradi-Hünermann-Happle syndrome (CDPX2) being the most common form. This study presents a clinical case of a 10-month-old female child, diagnosed with CDPX2 following a referral from a neonatology department of a secondary hospital center to a genetics consultation at a tertiary hospital center in Portugal. Despite normal prenatal monitoring, postnatal evaluations revealed typical manifestations of the syndrome, including nasomaxillary hypoplasia, macrocephaly, and skeletal abnormalities confirmed through imaging.

"My Baby's Sleep": A Quality Improvement Project to Promote Safe and Healthy Sleep Practices.

Introduction Promoting healthy sleep practices from birth has a positive effect on infants and their families. Our goal was to implement measures to promote safe and healthy sleep practices for infants and to evaluate their impact. Methods A quality improvement project was developed in the maternity ward of a level II hospital in Portugal.

Predictive factors for ventriculoperitoneal shunt placement in aneurysmatic subarachnoid hemorrhages.

Introduction: Aneurysmatic subarachnoid hemorrhages (aSAH) are life-threatening events with high mortality and morbidity. Hydrocephalus is a common complication, initially managed with an external ventricular drain (EVD). Persistent hydrocephalus often requires ventriculoperitoneal shunt (VPS) placement to relieve intracranial pressure and prevent further neurological damage.

Corrigendum to "Comparison of in-office and at-home bleaching techniques: An umbrella review of efficacy and post-operative sensitivity" [Heliyon 10(3), 15 February 2024, e25833].

[This corrects the article DOI: 10.1016/j.heliyon.