Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study.

Purpose: This study describes the experience of parents of children with developmental and epileptic encephalopathies (DEE) and how the disease impacts their daily lives.

Materials And Methods: A descriptive qualitative study was conducted using purposeful sampling. Twenty-one parents of children with DEEs caused by SCN1A, KCNQ2, CDKL5, PCDH19, and GNAO1 variants were included.

An Atlas of Anatomical Variants of the Human Talus.

Anatomical variants can be used effectively to identify relationships between individuals in kinship analysis and they may be useful during surgical procedures. These procedures can be better implemented when the cause, appearance and location are understood. Clear representations and definitions of anatomical traits are necessary.

Outliers of Treatment Frequency in Retinal Vein Occlusion: 24-Month Comparative Analysis of Fight Retinal Blindness! Practitioners.

Background: We aimed to describe a 2-year outcome of eyes managed by practitioners benchmarked using a funnel plot by their frequency of treatment using vascular endothelial growth factor (VEGF) inhibitors for naive retinal vein occlusion (RVO).

Methods: A multicentre, international, observational study of 29 doctors in 12 countries managing 1110 eyes with RVO commencing VEGF inhibitors between 1 January 2012-2022 tracked in the Fight Retinal Blindness! registry.

Results: We identified 3 outlying 'intensive' practitioners (managing 350/1110 eyes [32%]), 22 'typical' practitioners (604/1110, [54%]) and 4 outlying 'relaxed' practitioners (156/1110, [14%]) with respective 24-month outcomes in Branch and Central RVO including the primary outcome, mean adjusted change in visual acuity (VA) in BRVO: +16.

Black soldier fly larvae: a one health approach to investigate gut, and organ health and meat quality response in slow-growing chickens.

Background: The inclusion of sustainable protein sources in poultry feed has become essential for improving animal welfare in livestock production. Black soldier fly larvae are a promising solution due to their high protein content and sustainable production. However, most research has focused on fast-growing poultry breeds, while the effects on native breeds, such as the Bianca di Saluzzo, are less explored.

Patient satisfaction and safety in the administration of sedation by nursing staff in the digestive endoscopy service: a cross-sectional study.

Background: The satisfaction of patients with sedation by nursing staff is an issue of interest for the quality of health care, influencing the recovery and well-being of patients as well as their confidence in and adherence to treatment. One of the most frequently performed diagnostic and therapeutic tests requiring sedation are digestive endoscopies, so it would be interesting to study satisfaction in these services.

Aim: To determine the level of patient satisfaction and safety with sedation via digestive endoscopies by nurses.

Sensory neuropathy in patients with Pompe disease: a case series in Iran.

Background: Pompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of sensory organs or the nervous system due to glycogen accumulation.

Aims: This study aimed to evaluate the presence of concomitant small and large fiber neuropathy in patients with Pompe disease.

Microalgae for bioremediation: advances, challenges, and public perception on genetic engineering.

The increase in the global population and industrial activities has led to an extensive use of water, the release of wastewater, and overall contamination of the environment. To address these issues, efficient treatment methods have been developed to decrease wastewater nutrient content and contaminants. Microalgae are a promising tool as a sustainable alternative to traditional wastewater treatment.

RNA profiles differ between small and large extracellular vesicle subsets isolated from porcine seminal plasma.

Background: Extracellular vesicles (EVs) are essential for cell-to-cell communication because they transport functionally active molecules, including proteins, RNA, and lipids, from secretory cells to nearby or distant target cells. Seminal plasma contains a large number of EVs (sEVs) that are phenotypically heterogeneous. The aim of the present study was to identify the RNA species contained in two subsets of porcine sEVs of different sizes, namely small sEVs (S-sEVs) and large sEVs (L-sEVs).

Adaptive or non-adaptive? Cranial evolution in a radiation of miniaturized day geckos.

Lygodactylus geckos represent a well-documented radiation of miniaturized lizards with diverse life-history traits that are widely distributed in Africa, Madagascar, and South America. The group has diversified into numerous species with high levels of morphological similarity. The evolutionary processes underlying such diversification remain enigmatic, because species live in different ecological biomes, ecoregions and microhabitats, while suggesting strikingly high levels of homoplasy.

Measurement distance effects on [Formula: see text]-symmetric Taylor patterns with optimal transition integer [Formula: see text] and with reduced inner sidelobes.

The following paper presents the findings of a study conducted on the distances at which the field generated by a ϕ-symmetric circular Taylor aperture distribution can be classified as far-field, and also the efficiency across various study parameters. The [Formula: see text] transition integers that produce a monotonic distribution, which have been traditionally used and analyzed, are compared with those that yield a peaked distribution, and offer greater efficiency. Additionally, modified circular Taylor [Formula: see text] distributions featuring synthesized patterns with one or two depressed inner sidelobes, which have not been previously explored, are also examined.

Human brain aging is associated with dysregulation of cell type epigenetic identity.

Significant links between aging and DNA methylation are emerging from recent studies. On the one hand, DNA methylation undergoes changes with age, a process termed as epigenetic drift. On the other hand, DNA methylation serves as a readily accessible and accurate biomarker for aging.

Automated MRI pituitary structured reporting from free-text using a fine-tuned Llama model: a feasibility study.

Background And Objective: Structured reports in radiology have demonstrated substantial advantages over unstructured ones. However, the transition from unstructured to structured reporting can face challenges, as experienced radiologists worry about the potential loss of valuable information. In this study, we fine-tuned the Llama 2 model capable of generating structured pituitary MRI reports from unstructured reports.

Transposon-triggered epigenetic chromatin dynamics modulate EFR-related pathogen response.

Infectious diseases drive wild plant evolution and impact crop yield. Plants, like animals, sense biotic threats through pattern recognition receptors (PRRs). Overly robust immune responses can harm plants; thus, understanding the tuning of defense response mechanisms is crucial for developing pathogen-resistant crops.

Spirituality in Managing Perceived Stress and Promoting Self-Care: A Descriptive Study on Nursing Students in Spain.

The relationship between spirituality, perceived stress, and self-care was examined in a sample of 515 nursing students in Spain. Using the perceived stress scale (PSS), the professional self-care scale (PSCS), and the spirituality questionnaire (MiLS-sp/sf), the findings indicated that higher spirituality, particularly through inner peace and faith, was linked to reduced stress and enhanced self-care across physical, inner, and social dimensions. However, the inner self-care dimension was the least developed, suggesting that essential emotional, spiritual, and psychological needs were neglected.

Integrating Ecological Suitability and Socioeconomic Feasibility at Landscape Scale to Restore Biodiversity and Ecosystem Services in Southern Chile.

Deforestation and forest degradation are key drivers of biodiversity loss and global environmental change. Ecosystem restoration is recognized as a global priority to counter these processes. Forest restoration efforts have commonly adopted a predominantly ecological approach, without including broader socioeconomic variables and the characteristics of the rural context.

Pre-extraction alveolar buccal bone overbuilding: a preclinical investigation.

Background: The pre-extraction overbuilding procedure was designed aiming to mitigate buccal bone resorption following tooth extraction. The objective of this study was to compare the efficacy of pre-extraction and juxta-extraction buccal overbuilding treatments in preserving buccal bone volume following tooth extraction.

Material And Methods: At the test sites (pre-extraction sites), an alveolar crest overbuilding was performed on the buccal aspect of the distal root of the fourth premolar using a xenograft covered with a collagen membrane.

Empowerment among breast cancer survivors using an online peer support community.

Objectives: Breast cancer (BC) impacts the patients' quality of life. Peer support can provide emotional understanding and enhances access to information, social support, coping strategies, and empowerment. Comunitats is an online peer support community app for BC survivors that involves healthcare professionals.

Ecological and anthropogenic effects on the genomic diversity of lemurs in Madagascar.

Ecological variation and anthropogenic landscape modification have had key roles in the diversification and extinction of mammals in Madagascar. Lemurs represent a radiation with more than 100 species, constituting roughly one-fifth of the primate order. Almost all species of lemurs are threatened with extinction, but little is known about their genetic diversity and demographic history.

Nesting hoopoes cultivate in their uropygial gland the microbial symbionts with the highest antimicrobial capacity.

The European hoopoe (Upupa epops) conforms a paradigmatic example of animals cultivating bacteria in their uropygial gland that protect them against pathogenic infections. We here explore the hypothesis that enterococci are the responsible bacteria of such beneficial effect. We did so by comparing the antimicrobial activity against three indicator bacteria of colonies isolated from cultures of enterococci and mesophilic bacteria from the uropygial skin or secretion of nestlings, brooding or non-brooding females, and males of the subspecies longirostris in Hainan (China).

SLAMF7 defines subsets of human effector CD8 T cells.

Long-term control of viral replication relies on the efficient differentiation of memory T cells into effector T cells during secondary immune responses. Recent findings have identified T cell precursors for both memory and exhausted T cells, suggesting the existence of progenitor-like effector T cells. These cells can persist without antigenic challenge but expand and acquire effector functions upon recall immune responses.

Genomic analysis of DS-1-like human rotavirus A strains uncovers genetic relatedness of NSP4 gene with animal strains in Manhiça District, Southern Mozambique.

Post rotavirus vaccine introduction in Mozambique (September 2015), we documented a decline in rotavirus-associated diarrhoea and genotypes changes in our diarrhoeal surveillance spanning 2008-2021. This study aimed to perform whole-genome sequencing of rotavirus strains from 2009 to 2012 (pre-vaccine) and 2017-2018 (post-vaccine). Rotavirus strains previously detected by conventional PCR as G2P[4], G2P[6], G3P[4], G8P[4], G8P[6], and G9P[6] from children with moderate-to-severe and less-severe diarrhoea and without diarrhoea (healthy community controls) were sequenced using Illumina MiSeq platform and analysed using bioinformatics tools.

Cross-species regulatory network analysis identifies FOXO1 as a driver of ovarian follicular recruitment.

The transcriptional regulation of gene expression in the latter stages of follicular development in laying hen ovarian follicles is not well understood. Although differentially expressed genes (DEGs) have been identified in pre-recruitment and pre-ovulatory stages, the master regulators driving these DEGs remain unknown. This study addresses this knowledge gap by utilizing Master Regulator Analysis (MRA) combined with the Algorithm for the Reconstruction of Accurate Cellular Networks (ARACNe) for the first time in laying hen research to identify master regulators that are controlling DEGs in pre-recruitment and pre-ovulatory phases.

Diagnostic Accuracy of Novel Protein Biomarkers in Saliva to Detect Periodontitis Using Untargeted 'SWATH' Mass Spectrometry.

Aim: To discover new salivary biomarkers to diagnose periodontitis and evaluate the impact of age and smoking on predictive capacity.

Material And Methods: Saliva samples were collected from 44 healthy periodontal individuals and 41 with periodontitis. Samples were analysed by sequential window acquisition of all theoretical mass spectra (SWATH-MS), and proteins were identified by employing the UniProt database.

Faecal calprotectin-based strategy for long-term monitoring of patients with Crohn's disease without or with mild endoscopic postoperative recurrence.

Background: Endoscopic evaluation 6-12 months after ileocolonic resection (ICR) in Crohn's disease (CD) is advised to assess the development of postoperative recurrence (POR) but no further recommendations are available for long-term monitoring if no POR is noticed.

Methods: Prospective, open-label, study including asymptomatic patients with CD and ICR in whom no POR was observed at the last endoscopic evaluation. Patients were followed-up for two years and ileocolonoscopy was performed by means of a faecal calprotectin (FC)-based strategy.