Publications by authors named "Dias K"

Article Synopsis
  • This study identifies a new type of autosomal recessive intellectual disability linked to genetic variants in the GTF3C3 gene, which is essential for proper RNA polymerase III activity.
  • Researchers employed various methods, including exome sequencing and Drosophila models, to analyze the effects of GTF3C3 variants found in twelve affected individuals from seven families.
  • The results showed that the variants lead to significant functional losses in the gene, correlating with symptoms like intellectual disability, motor issues, seizures, and brain structure abnormalities.
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Introduction: Chronic ocular hypotony (low intraocular pressure (IOP)) is a potentially sight-threatening condition. Although there is some controversy as to what constitutes non-physiological IOP, generally it is accepted as an IOP of 6.5 mm Hg or less, measured on three separate occasions and lasting for at least 3 months.

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  • Fresh, minimally processed foods are rich in beneficial phenolic compounds, while industrially processed foods tend to have lower concentrations of these nutrients.
  • The study analyzed menus from 319 schools in Sergipe, Brazil, using linear regression and cluster analysis to assess caloric content, nutrients, and polyphenols based on food processing levels.
  • Results showed that incorporating regional foods improved flavonoid and phenolic acid levels, while ultra-processed foods negatively impacted flavonoid content, highlighting the importance of food selection for school nutrition and public health.
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  • * In spontaneously hypertensive rats (SHRs), researchers found lower sperm concentration, motility, and higher acrosome damage, with SHRs showing elevated blood pressure across different ages.
  • * Treatment with prazosin, which blocks α1-adrenergic receptors, improved sperm concentration and motility in hypertensive rats, but did not help with acrosome damage, highlighting the impact of hypertension on sperm quality.
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The ability to quantify albuminuria and glucose is important in identifying conditions such as cardiovascular disease (CVD), chronic kidney disease (CKD), and diabetes. This study utilized Attenuated Total Reflectance Fourier Transform Infrared (ATR-FTIR) spectroscopy to analyze aqueous urine samples spiked with bovine serum albumin (BSA) and glucose at different concentrations. The aim was to determine the limit of detection of the technology using aqueous samples for the future development of a pathological prediction model.

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Orphan perennial native species are gaining importance as sustainability in agriculture becomes crucial to mitigate climate change. Nevertheless, issues related to the undomesticated status and lack of improved germplasm impede the evolution of formal agricultural initiatives. - neotropical palm with potential for oil production - is an example.

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This study investigated RAP1 immunostaining variation in different cell types during CC progression. Paraffin-embedded cervical tissues from 101 patients were categorized into control, pre-neoplastic and neoplastic groups. RAP1 immunolocalization, HPV detection and genotyping were performed.

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A variety of submaximal exercise tests are commonly used in clinical practice to determine an individual's exercise capacity and cardiorespiratory fitness. This study explored differences in cardiorespiratory and perceived exertion responses following the completion of three set-paced exercise tests. A prospective, observational, cross-sectional design assessed 30 healthy communityd-welling older adults, who participated in three submaximal exercise tests, including seated marching (SM), standing marching (STM), and standing stepping (STS).

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Atrial fibrillation (AF) is a common and persistent cardiac arrhythmia that impacts morbidity, mortality, disability, quality of life, and healthcare costs. Typically, AF is managed using a three-pillar approach of rate control, rhythm control, and anticoagulation. However, these interventions fail to address the underlying pathophysiological factors that contribute to AF.

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Understanding the genotype-by-environment interaction (GEI) and considering it in the selection process is a sine qua non condition for the expansion of Brazilian eucalyptus silviculture. This study's objective is to select high-performance and stable eucalyptus clones based on a novel selection index that considers the Factor Analytic Selection Tools (FAST) and the clone's reliability. The investigation explores the nuances interplay of GEI and extends its insights by scrutinizing the relationship between latent factors and real environmental features.

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Ribonucleases (RNases) are ubiquitous enzymes that process or degrade RNA, essential for cellular functions and immune responses. The EndoU-like superfamily includes endoribonucleases conserved across bacteria, eukaryotes, and certain viruses, with an ancient evolutionary link to the ribonuclease A-like superfamily. Both bacterial EndoU and animal RNase A share a similar fold and function independently of cofactors.

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Incorporating feature-engineered environmental data into machine learning-based genomic prediction models is an efficient approach to indirectly model genotype-by-environment interactions. Complementing phenotypic traits and molecular markers with high-dimensional data such as climate and soil information is becoming a common practice in breeding programs. This study explored new ways to combine non-genetic information in genomic prediction models using machine learning.

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Ovarian puncture has been widely used in assisted reproduction, but there are still gaps about its effects on ovarian morphophysiology, as well as the relationship between inflammation caused by this procedure and the follicular growth and fertility. The aim of this study was to investigate the effects of ovarian puncture on folliculogenesis and fertility. Mice (n = 24) were divided into two groups: (1) SHAM-both ovaries were exposed and repositioned and (2) Punctured-ovaries were exposed, punctured, and repositioned.

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Article Synopsis
  • * The study identifies RNU4-2, a non-coding RNA gene, as a significant contributor to syndromic NDD, revealing a specific 18-base pair region with low variation that includes variants found in 115 individuals with NDD.
  • * RNU4-2 is highly expressed in the developing brain, and its variants disrupt splicing processes, indicating that non-coding genes play a crucial role in rare disorders, potentially aiding in the diagnosis of thousands with NDD worldwide.
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Frontloading home care visits has been found to be effective in the nursing profession but has not been investigated in physical therapy (PT) practice. This study aimed to examine the impact of frontloading home PT visits on function in persons with heart failure (HF). This was a prospective multi-center randomized controlled trial with blinded raters.

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  • The COVID-19 pandemic has worsened health inequalities in Canada, particularly impacting racialized and marginalized communities in the Municipality of Peel, leading to delayed care and higher mortality rates.
  • Grassroots advocacy is urging health system leaders to collaborate with community organizations to address gaps in data and infrastructure that affect social determinants of health.
  • A community-based participatory research approach was utilized to explore effective sociodemographic data collection methods, culminating in eight recommendations to improve data governance and ensure respect for community perspectives.
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Background: In patients with hypertrophic cardiomyopathy (HCM), impaired augmentation of stroke volume and diastolic dysfunction contribute to exercise intolerance. Systolic-diastolic (S-D) coupling characterizes how systolic contraction of the left ventricle (LV) primes efficient elastic recoil during early diastole. Impaired S-D coupling may contribute to the impaired cardiac response to exercise in patients with HCM.

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Submaximal functional tests of endurance are ubiquitous in clinical practice. This investigation compared cardiovascular responses, perceived exertion, and performance measures following the completion of three self-paced, 2-minute, functional tests of endurance. A pilot prospective, observational, cross-sectional design with 16 community-dwelling older participants compared heart rate (HR), systolic blood pressure (SBP), diastolic blood pressure (DBP), rating of perceived exertion (RPE), and performance measures following the completion of three randomly allocated self-paced activities.

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Bacterial contamination causes irreparable losses in the performance of alcoholic fermentation. Antibiotics are used to control these microorganisms, but they generate residues and cause microbial resistance. Today the only commercial product used by the mills is hops, but it is very expensive.

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Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify the non-coding RNA as a novel syndromic NDD gene.

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This study assessed the effects of hydroxytyrosol (HT) on 8- to 20-day-old broilers challenged with lipopolysaccharide (LPS); 180 Cobb500™ male chicks were randomly assigned to 3 treatment groups, each comprising 10 replicates with 6 birds per replicate. Treatments included a control diet (CON), CON with LPS administration, and CON + LPS supplemented with 10 mg of HT/kg of feed. LPS was administered intraperitoneally on days 14, 16, 18, and 20.

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We propose an "enviromics" prediction model for recommending cultivars based on thematic maps aimed at decision-makers. Parsimonious methods that capture genotype-by-environment interaction (GEI) in multi-environment trials (MET) are important in breeding programs. Understanding the causes and factors of GEI allows the utilization of genotype adaptations in the target population of environments through environmental features and factor-analytic (FA) models.

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Probabilistic models enhance breeding, especially for the Tahiti acid lime, a fruit essential to fresh markets and industry. These models identify superior and persistent individuals using probability theory, providing a measure of uncertainty that can aid the recommendation. The objective of our study was to evaluate the use of a Bayesian probabilistic model for the recommendation of superior and persistent genotypes of Tahiti acid lime evaluated in 12 harvests.

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Amino acid (AA) transporters (AAT) control AA cellular fluxes across membranes, contributing to maintain cellular homeostasis. In this study, we took advantage of rainbow trout metabolic feature, which highly relies on dietary AA, to explore the cellular and physiological consequences of unbalanced diets on AAT dysregulations with a particular focus on cationic AAs (CAA), frequently underrepresented in plant-based diets. Results evidenced that 24 different CAAT are expressed in various trout tissues, part of which being subjected to AA- and CAA-dependent regulations, with exchanger being prone to the strongest dysregulations.

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