In 2018, Portuguese researchers proposed the "Tool for Quality Assessment of Genetic Counseling," a 5-point Likert scale comprising 50 items across five dimensions, designed to assess genetic counseling from the professional's perspective. This descriptive, cross-sectional study aimed to adapt this tool to Brazilian Portuguese, validate it among Brazilian clinical geneticists, and conduct a preliminary assessment of the quality of genetic counseling in Brazil. The adaptation process involved expert-driven content validation and calculation of the Content Validity Index (CVI) to ensure equivalence between the original and adapted versions.
View Article and Find Full Text PDFBiol Trace Elem Res
January 2025
The study aimed to examine the interaction between diets supplemented with zinc-L-selenomethionine (ZnSeMet) and two stocking densities (SD) on Nile tilapia (Oreochromis niloticus) males. Four extruded diets were formulated: 0.0, 0.
View Article and Find Full Text PDFThe prevalence of traumatic dental injuries (TDI) in patients with autism spectrum disorders (ASD) remains unclear. Given these discrepancies, an updated review of the evidence on the risk of TDI in patients with ASD is essential. This systematic review and meta-analysis aimed to evaluate the prevalence of TDI in patients with ASD and compare it to that in neurotypical patients.
View Article and Find Full Text PDFThis study investigated the anxiolytic, anticonvulsant and memory preservation effects of the flavonoid robinin. The compound, administered at doses of 4, 20 and 40 mg/kg, did not show toxicity after 96 h of monitoring. In behavioural experiments with zebrafish, robinin did not cause significant changes in motor functions, but it impairs locomotor activity and demonstrates anxiolytic properties, evidenced by the increase in the time spent in the clean zone of the protector.
View Article and Find Full Text PDFBackground: Accurate predictors of response to modified Atkins diet (MAD) are needed. MicroRNAs are potential biomarkers in epilepsy. This study aimed to explore the value of circulating miR-146a, miR-155, miR-22, miR-21 and miR-134 levels in predicting response to MAD.
View Article and Find Full Text PDFNutrients
September 2024
The Preference for Intuition and Deliberation in Food Decision-Making Scale (E-PID) was developed to evaluate both intuitive and deliberative food decision-making within a single instrument. However, its psychometric properties have only been assessed among German-speaking participants. The main aim of the present study was to evaluate evidence of validity and reliability of the E-PID among 604 Brazilian adult women.
View Article and Find Full Text PDFIntroduction: The serrated pathway contributes to interval colorectal cancers, highlighting the need for new biomarkers to assess lesion progression risk. The β1,6-GlcNAc branched -glycans expression in CRC cells was associated with an invasive phenotype and with immune evasion. Therefore, this study aims to identify potential risk factors for progression of serrated lesions (SLs) to malignancy, analyzing the -glycosylation profile of epithelial/infiltrating immune cells.
View Article and Find Full Text PDFClin Ophthalmol
September 2024
Purpose: To determine the prewarming effect on body temperature in the perioperative period of patients undergoing conventional abdominal surgery and the level of thermal comfort.
Design: A randomized controlled clinical trial.
Methods: A Brazilian oncology hospital located in São Paulo.
Background: Play is important for mental health and well-being. Descriptions of autistic play have typically focused on "deficits" and are based on comparisons to neurotypical "norms". According to the neurodiversity paradigm, it is important that autistic voices are highlighted and that difficulties, differences, and strengths are explored.
View Article and Find Full Text PDFObjectives: to map available evidence on telenursing use in the postoperative period and its impact on patient outcomes.
Methods: a scoping review, conducted according to the JBI model and the PRISMA-ScR checklist. The search was carried out in the CINAHL, Embase, LILACS, PubMed, Web of Science, SciELO, Scopus and Cochrane Library databases.
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.
View Article and Find Full Text PDFHereditary transthyretin-related amyloidosis (ATTRv amyloidosis) is a rare and progressively debilitating disease characterized by the deposition of transthyretin (TTR) amyloid fibrils in various organs and tissues, most commonly in the heart and peripheral nerves. This pathological deposition can lead to significant organ dysfunction and, ultimately, organ failure. ATTRv amyloidosis exhibits a broad range of clinical presentations, from purely neurological symptoms to purely cardiac manifestations, as well as mixed phenotypes which result from both neurological and cardiac implications.
View Article and Find Full Text PDFMachado-Joseph disease (MJD) is an autosomal dominant spinocerebellar ataxia (SCA) caused by a polyglutamine expansion in the ataxin-3 protein, which initiates a cascade of pathogenic events, including transcriptional dysregulation. Genotype-phenotype correlations in MJD are incomplete, suggesting an influence of additional factors, such as epigenetic modifications, underlying the MJD pathogenesis. DNA methylation is known to impact the pathophysiology of neurodegenerative disorders through gene expression regulation and increased methylation has been reported for other SCAs.
View Article and Find Full Text PDFPlay is often included in autism diagnostic assessments. These assessments tend to focus on negatives and how people who are not autistic interpret observable behaviours. It is important to take a neurodiversity-affirmative assessment approach.
View Article and Find Full Text PDFObjective: To describe the prevalence of urinary incontinence (UI) in para athletes in Brazil.
Methods: This is a cross-sectional study with Brazilian para athletes with physical impairments from all para sports. The data from 86 participants of both sexes (60 males and 26 females) were collected through an online survey that gathered sociodemographic data and the International Consultation on Incontinence Questionnaire-Urinary Incontinence Short Form, from March to July 2023.
Objective: This scoping review aimed to map the literature on the utilization of intraoral scanners (IOS) in fabricating post and core restorations.
Data: The study protocol is available at https://osf.io/ja9xh/.
J Prosthet Dent
May 2024
Statement Of Problem: Prefabricated and custom glass fiber posts have been successfully used to reconstruct endodontically treated teeth. However, the performance of computer-aided design and computer-aided manufacture (CAD-CAM) milled glass fiber posts is unclear.
Purpose: The purpose of this systematic review with meta-analysis was to compare the fracture and bond strength and cement layer thickness of CAD-CAM milled glass fiber posts with prefabricated or custom glass fiber posts.
Objective: to understand the experiences with diabetes mellitus management of people who use insulin, in order to identify possible factors that may influence adherence to self-care and thus define their learning demands for diabetes self-management.
Method: this is a qualitative study carried out using individual semi-structured interviews online. The interviews were recorded, transcribed and evaluated using Atlas.
Purpose: This systematic review aimed to determine the effects of maternal exposure to bisphosphonates (BPs) during pregnancy on neonatal outcomes. It aimed to disclosfe the impact of BPs on neonates and identify aspects that require further investigation.
Methods: A comprehensive search of PubMed, Science Direct, LILACS, EMBASE, and Web of Science was conducted until August 2022, with no time restrictions.
The Sit4 protein phosphatase plays a key role in orchestrating various cellular processes essential for maintaining cell viability during aging. We have previously shown that deletion promotes vacuolar acidification, mitochondrial derepression, and oxidative stress resistance, increasing yeast chronological lifespan. In this study, we performed a proteomic analysis of isolated vacuoles and yeast genetic interaction analysis to unravel how Sit4 influences vacuolar and mitochondrial function.
View Article and Find Full Text PDFObjectives: this study aimed at estimating and comparing the reliability of temperature measurements obtained using a peripheral infrared temporal thermometer, a central cutaneous thermometer ("Zero-Heat-Flux Cutaneous thermometer") and an esophageal or nasopharyngeal thermometer among elective surgical patients in the intraoperative period.
Method: a longitudinal study with repeated measures carried out by convenience sampling of 99 patients, aged at least 18 years old, undergoing elective abdominal cancer surgeries, with anesthesia lasting at least one hour, with each patient having their temperature measured by all three methods.
Results: the intraclass correlation coefficient showed a low correlation between the measurements using the peripheral temporal thermometer and the central cutaneous (0.
Background: Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. Knowing the target population and its resources is essential to better plan support measures. The aim of this study was to evaluate the socioeconomic characteristics of regions in Portugal where IRD patients reside to inform the planning of vision aid and rehabilitation intervention measures.
View Article and Find Full Text PDFOdontogenic cysts are bony lesions in the jaws that can reach large sizes. Decompression, a technique that helps in their surgical treatment, aims to reduce their size. We aimed to conduct a systematic review of the main types of device used for the decompression of odontogenic cysts and to analyse the indications, types, advantages, and disadvantages of the devices used.
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