Fifteen years of the master's degree in genetic counseling in Portugal: Are we heading in the right direction?

Genetic counseling arose as a field in the late 1960s in the United States, with the creation of the first master's level degree. Since then, the profession has expanded globally, with several training degrees being established and genetic counselors integrated into national healthcare systems. In Portugal, though the profession is yet to be recognized, a master's degree in genetic counseling was established in 2009 at ICBAS (University of Porto).

Neolactotetraosylceramide enables urinary detection of bladder cancer.

Glycosphingolipids (GSLs) are promising cancer biomarkers. Using multiplexed capillary gel-electrophoresis with laser-induced fluorescence detection (xCGE-LIF), we profile GSLs in bladder cancer (BC) tissues and find a significant increase in neolactotetraosylceramide (nLc4) compared to matched normal tissue (n = 30). Immunofluorescence confirms tumor-specific nLc4 expression in both non-muscle-invasive BC (NMIBC) and muscle-invasive BC (MIBC), colocalizing with luminal and basal urothelial markers.

ImpaHCta-Haemophilia Carriers Quality of Life Assessment.

Introduction: Early identification of female haemophilia carriers (HC) before menarche is important to prevent potential heavy menstrual bleeding, provide preconception and prenatal care, render effective delivery and postpartum management and provide proper care towards haemostatic challenges.

Aim: Evaluate HC women's bleeding phenotype and assess health-related quality of life (HRQOL).

Methods: Cross-sectional, non-interventional, single centre study evaluating the bleeding tendency and quality of life of female adult haemophilia A or B carriers, compared with a healthy adult female control group.

Durable and breathable ZnO/graphene-coated fabrics for enhanced BQR protection.

This work developed a new strategy to create active protection against chemical, biological, radiological and nuclear (CBRN) threats, based on polyurethane-based coatings for outer (water and oil-repellency) and inner (CBRN protection) functionalization of fabric. The internal coatings were functionalized with varying concentrations of zinc oxide nanoparticles (ZnO) and/or graphene nanoplatelets (Gf) and carefully spread onto a military-grade camouflage fabric using a knife coating methodology. Hence, a new double-layered system was created consisting of one double-coated fabric combined with a lining knitted fabric.

Gadolinium: a review on concentrations and impacts in marine and coastal systems.

This review synthesizes current knowledge on gadolinium (Gd) contamination in marine and coastal environments from 209 scientific publications. Of these, 83 studies were selected for detailed analysis, focusing specifically on marine invertebrate taxa to ensure a targeted examination of Gd's effects on key sentinel species within this group, with 69 papers (83.1 %) focusing on Gd concentrations in marine and coastal ecosystems, reporting concentrations ranging from 0.

Glycosphingolipids as emerging attack points in bladder cancer.

Bladder cancer is a prevalent malignancy associated with significant morbidity and mortality worldwide. Emerging research highlights the critical role of glycosphingolipids (GSLs) in bladder cancer progression. In this review, we examine GSL expression profiles in bladder cancer and explore their contributions to key cancer hallmarks, including invasion and metastasis, immune evasion, and resistance to cell death.

Supervision programs implemented by nurses to caregivers in community: a scoping review protocol.

Introduction: With the increase in the number of informal caregivers, their training becomes essential. The supervisory programs implemented by nurses play a leading role in caregiver training.

Objectives: To map the supervisory programs implemented by nurses to caregivers in the community.

Unraveling the Extra Virgin Olive Oil Effect on Inflammation and on Gut and Saliva Microbiota.

Extra virgin olive oil (EVOO) with a high content of polyphenols has attracted attention due to its proved beneficial effects in decreasing the risk of cardiovascular disease, modulating cholesterol levels (HDL and LDL), modulating inflammatory markers, and decreasing the levels of haemoglobin1Ac, suggesting that EVOO can have an impact in glycemia regulation. This study assessed the impact of the consumption of a northern Portuguese polyphenol-rich EVOO with a high profile of bioactive molecules on several parameters, such as saliva and serum inflammatory biomarkers, and explored EVOO impact on gut and oral microbiota regarding Bacillota and Bacteroidota content. Thus, the impact on glycated haemoglobin (HbA1c), low-density lipoprotein cholesterol (LDL-C), C-reactive protein (CRP), inflammatory biomarkers, and faecal and salivary microbiomes were evaluated before and after the exposure to EVOO.

Pressure ulcers/injuries prevention in emergency services: A scoping review.

Aim Of The Study: To map the available evidence on nursing care provided to prevent the development of pressure ulcers/injuries in emergency services.

Material And Methods: Scoping review that follows the Preferred Reporting Items for Systematic reviews and the Meta-Analyses extensions for Scoping Reviews and the Joanna Briggs Institute guidelines. The inclusion criteria were based on the PCC mnemonic.

Visual vertigo in children: Adaptation and validation of the visual vertigo analogue scale to European Portuguese.

Background: Visual vertigo occurs after vestibular and non-vestibular pathology and can be present in children and adolescents. It can be assessed by "the Visual Vertigo Analogue Scale" (VVAS), a questionnaire with a Portuguese version for adults.

Objectives: To perform the adaptation to pediatric age and validation of VVAS in European Portuguese.

Klotho and lean mass as novel cardiovascular risk factors in hemodialysis patients.

Background: Patients with chronic kidney disease (CKD) present a higher risk of cardiovascular (CV) morbidity and mortality compared with the general population. While there are several well-established traditional CV risk factors, few studies have addressed novel potential risk factors such as α-Klotho, asymmetric dimethylarginine (ADMA) and lean mass.

Methods: This was an observational, prospective, single-center, cohort study that included prevalent hemodialysis (online hemodiafiltration) adult patients.

Hierarchical self-assembly of a reflectin-derived peptide.

Reflectins are a family of intrinsically disordered proteins involved in cephalopod camouflage, making them an interesting source for bioinspired optical materials. Understanding reflectin assembly into higher-order structures by standard biophysical methods enables the rational design of new materials, but it is difficult due to their low solubility. To address this challenge, we aim to understand the molecular self-assembly mechanism of reflectin's basic unit-the protopeptide sequence YMDMSGYQ-as a means to understand reflectin's assembly phenomena.

Comparison of Zinc Oxide Nanoparticle Integration into Non-Woven Fabrics Using Different Functionalisation Methods for Prospective Application as Active Facemasks.

The development of advanced facemasks stands out as a paramount priority in enhancing healthcare preparedness. In this work, different polypropylene non-woven fabrics (NWF) were characterised regarding their structural, physicochemical and comfort-related properties. The selected NWF for the intermediate layer was functionalised with zinc oxide nanoparticles (ZnO NPs) 0.

The Metabolic and Analytical Changes of Healthy Volunteers upon Intake of Portuguese Extra Virgin Olive Oil: A Comparison Study between Pre- and Post-Intervention.

(1) Background: Extra virgin olive oil (EVOO) is studied mostly for its health benefits in preventing non-communicable chronic diseases, particularly within a Mediterranean dietary pattern. However, few studies have addressed the effect of EVOO in healthy individuals, prior to an established disease. This study aims to evaluate the impact of Northern Portuguese polyphenol-rich EVOO (NPPR-EVOO) consumption on various important clinical parameters in healthy adult volunteers.

Practical lessons learned from real-world implementation of the molecular classification for endometrial carcinoma.

Objectives: This study aimed to explore the practical organisational aspects and difficulties in the implementation of the molecular classification of endometrial carcinoma (EC), and to demonstrate its potential impact in prognostic risk group classification.

Methods: We conducted a multicentre, retrospective cohort study of 230 patients with EC diagnosed between 2019 and 2022. Sample processing, clinicopathological, treatment and follow-up data were collected.

Neoadjuvant Gastric Cancer Treatment and Associated Nutritional Critical Domains for the Optimization of Care Pathways: A Systematic Review.

(1) Background: Gastric cancer patients are known to be at a high risk of malnutrition, sarcopenia, and cachexia, and the latter impairs the patient's nutritional status during their clinical course and also treatment response. A clearer identification of nutrition-related critical points during neoadjuvant treatment for gastric cancer is relevant to managing patient care and predicting clinical outcomes. The aim of this systematic review was to identify and describe nutrition-related critical domains associated with clinical outcomes.

Development of Smart Clothing to Prevent Pressure Injuries in Bedridden Persons and/or with Severely Impaired Mobility: 4NoPressure Research Protocol.

Pressure injuries (PIs) are a major public health problem and can be used as quality-of-care indicators. An incipient development in the field of medical devices takes the form of Smart Health Textiles, which can possess innovative properties such as thermoregulation, sensing, and antibacterial control. This protocol aims to describe the process for the development of a new type of smart clothing for individuals with reduced mobility and/or who are bedridden in order to prevent PIs.

A Complete Sustained Response of Advanced Non-Small-Cell Lung Cancer After Immune Checkpoint Inhibitor, Radiotherapy, and Chemotherapy.

Lung cancer is the leading cause of cancer-related mortality worldwide. The treatment of advanced lung cancer is improving with the development of new treatments like immune checkpoint inhibitors (ICIs) and various molecular targeted agents, which have extended overall survival (OS). However, complete remissions remain rare.

Paraneoplastic Opsoclonus-Myoclonus Syndrome as a Rare Presentation of Small-Cell Lung Cancer.

Opsoclonus-myoclonus syndrome (OMS), also known as Kinsbourne syndrome or dancing eyes syndrome, is an extremely rare neurological condition that comprises a heterogenous constellation of symptoms including opsoclonus along with diffuse or focal body myoclonus. It is usually referred to as a paraneoplastic entity, but it may also be associated to an infectious, metabolic, or idiopathic cause. Small-cell carcinoma of the lung is the most commonly reported malignancy associated with OMS.

Molecular Classification of Endometrial Carcinoma: Protocol for a Cohort Study.

Background: Endometrial carcinoma (EC) is the most common gynecologic malignancy in developed countries and the fourth most frequent in women worldwide. The cornerstone of treatment for EC is surgery. Clinicopathological features are currently used to help determine the individual risk of recurrence and the need for adjuvant treatment after surgery.

Development of Piezoresistive Sensors Based on Graphene Nanoplatelets Screen-Printed on Woven and Knitted Fabrics: Optimisation of Active Layer Formulation and Transversal/Longitudinal Textile Direction.

Although the force/pressure applied onto a textile substrate through a uniaxial compression is constant and independent of the yarn direction, it should be noted that such mechanical action causes a geometric change in the substrate, which can be identified by the reduction in its lateral thickness. Therefore, the objective of this study was to investigate the influence of the fabric orientation on both knitted and woven pressure sensors, in order to generate knowledge for a better design process during textile piezoresistive sensor development. For this purpose, these distinct textile structures were doped with different concentrations of graphene nanoplatelets (GNPs), using the screen-printing technique.

Auditory verbal learning test can lateralize hippocampal sclerosis.

The ability of the Auditory Verbal Learning Test (AVLT) to lateralize hippocampal sclerosis (HS) in mesial temporal lobe epilepsy (MTLE) was explored in a sample of 50 patients with MTLE-HS (23 right and 27 left). Patients' AVLT scores were adjusted to the demographic characteristics of each individual in accordance with the Portuguese normative data. The laterality of the HS was determined by consensus by two neuroradiologists.

Joule-Heating Effect of Thin Films with Carbon-Based Nanomaterials.

Smart textiles have become a promising area of research for heating applications. Coatings with nanomaterials allow the introduction of different functionalities, enabling doped textiles to be used in sensing and heating applications. These coatings were made on a piece of woven cotton fabric through screen printing, with a different number of layers.