A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.

Background: Despite the use of Next-Generation Sequencing (NGS) as the gold standard for the diagnosis of rare diseases, its clinical implementation has been challenging, limiting the cost-effectiveness of NGS and the understanding, control and safety essential for decision-making in clinical applications. Here, we describe a personalized NGS-based strategy integrating precision medicine into a public healthcare system and its implementation in the routine diagnosis process during a five-year pilot program.

Methods: Our approach involved customized probe designs, the generation of virtual panels and the development of a personalized medicine module (PMM) for variant prioritization.

Small Cell Lung Cancer Unveiled: Exploring the Untapped Resource of Circulating Tumor Cells-Derived Organoids.

Small cell lung cancer (SCLC) remains a challenge in oncology due to its aggressive behavior and dismal prognosis. Despite advances in treatments, novel strategies are urgently needed. Enter liquid biopsy-a game-changer in SCLC management.

Simplified acid extraction and quantification of histones in human tumor cells.

Histones are essential nuclear proteins that package eukaryotic DNA into chromosomes, play a vital role in gene regulation, DNA replication, DNA repair and chromosome condensation. Understanding histone modifications is crucial for grasping biological and disease-related processes. Specific alterations in histone modifications serve as sensitive and selective biomarkers for conditions like cancer, impacting both tumor and immune cells and affecting their interactions.

Reservoir-Type Subcutaneous Implantable Devices Containing Porous Rate Controlling Membranes for Sustained Delivery of Risperidone.

Implantable drug delivery systems are crucial for achieving sustained delivery of active compounds to specific sites or systemic circulation. In this study, a novel reservoir-type implant combining a biodegradable rate-controlling membrane with a drug-containing core prepared using direct compression techniques is developed. The membrane is composed of poly(caprolactone) (PCL), and risperidone (RIS) served as the model drug.

Autoactive CNGC15 enhances root endosymbiosis in legume and wheat.

Nutrient acquisition is crucial for sustaining life. Plants develop beneficial intracellular partnerships with arbuscular mycorrhiza (AM) and nitrogen-fixing bacteria to surmount the scarcity of soil nutrients and tap into atmospheric dinitrogen, respectively. Initiation of these root endosymbioses requires symbiont-induced oscillations in nuclear calcium (Ca) concentrations in root cells.

Formulation and evaluation of PVA-based composite hydrogels: physicochemical, leachables, and immunogenicity studies.

This study explores the formulation and characterization of poly(vinyl alcohol) (PVA)-based composite hydrogels synthesized through solid-state crosslinking. Comprehensive assessments were conducted on their physicochemical properties, leachables, and immunogenicity. Swelling experiments demonstrated that the incorporation of poly(vinylpyrrolidone) (PVP) enhanced water retention, while chitosan had a minimal effect on swelling behavior.

Roles for the long non-coding RNA / in pancreatic beta cell function.

Long non-coding RNAs (lncRNAs) are emerging as crucial regulators of beta cell function. Here, we show that an lncRNA-transcribed antisense to Pax6, annotated as Pax6os1/PAX6-AS1, was upregulated by high glucose concentrations in human as well as murine beta cell lines and islets. Elevated expression was also observed in islets from mice on a high-fat diet and patients with type 2 diabetes.

Tetrazole Is a Novel Zinc Binder Chemotype for Carbonic Anhydrase Inhibition.

The tetrazole group is here proposed as a zinc-binding warhead for the inhibition of the metalloenzyme carbonic anhydrases. A set of synthesized derivatives incorporating the tetrazole moiety were evaluated as inhibitors against a panel of human isoforms, exhibiting values spanning between the submicromolar and low-to-medium micromolar ranges (0.62-19.

Influence of a cardiac rehabilitation programme on the return to work of workers with ischaemic heart disease: Influence of a cardiac rehabilitation programme.

This study aimed to examine the employment status of patients who have experienced ischemic heart disease one year after undergoing cardiac rehabilitation. For this, a quasi-experimental pre-post study without a control group of active workers aged 18 to 65 years diagnosed with ischemic heart disease and included in a cardiac rehabilitation programme was conducted. Sociodemographic and occupational data, cardiovascular risk factors and clinical-therapeutic data on heart disease were collected.

Exploring the synergistic effect of NaOH/NaClO absorbent in a novel wet FGD scrubber to control SOx/NOx emissions.

Escalating SOx and NOx emissions from industrial plants necessitates customized scrubbing solutions to improve removal efficiency and tackle cost limitations in existing wet FGD units. This work investigates the real-time intensified removal pathways via an innovative two-stage countercurrent spray tower configuration strategically integrating NaOH (M) and NaOH/NaClO (M/M) to remove SOx and NOx emissions simultaneously from the industrial stack through a comprehensive parametric study of absorbents concentration, reaction temperature, gas flow rate, liquid to gas ratio (F/F), and absorbent showering head. Flue gas stream comprising SO bearing 4500 ppm, SO bearing 300 ppm, 70 ppm NO, and 50 ppm NO brought into contact with two scrubbing solutions as M, and a complex absorbent of M/M at varying respective ratios.

infection in captive non-human primates in zoological gardens in Spain.

Currently, there is limited available information on the epidemiology of parasitic infections in captive non-human primates (NHPs) and their zoonotic potential. However, numerous cases of helminth infections in NHPs have been documented in several zoos around the world, with one of the most prevalent being those of the genus The main objective of this study is to investigate the occurrence of infection by spp. in primates from zoological gardens in Spain and to ascertain, at the species level, the specific species harbored by these hosts by using mitochondrial and ribosomal markers.

Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry.

Background And Aims: Overweight and obesity are modifiable risk factors for atherosclerotic cardiovascular disease (ASCVD) in the general population, but their prevalence in individuals with heterozygous familial hypercholesterolaemia (HeFH) and whether they confer additional risk of ASCVD independent of LDL cholesterol (LDL-C) remains unclear.

Methods: Cross-sectional analysis was conducted in 35 540 patients with HeFH across 50 countries, in the EAS FH Studies Collaboration registry. Prevalence of World Health Organization-defined body mass index categories was investigated in adults (n = 29 265) and children/adolescents (n = 6275); and their association with prevalent ASCVD.

System identification and fault reconstruction in solar plants via extended Kalman filter-based training of recurrent neural networks.

This article proposes using the extended Kalman filter (EKF) for recurrent neural network (RNN) training and fault estimation within a parabolic-trough solar plant. The initial step involves employing an RNN to model the system. Given the challenge of fault discernibility in the collectors, parallel EKFs are employed to reconstruct the parameters of the faults.

Gut Microbiota Interacts with Dietary Habits in Screenings for Early Detection of Colorectal Cancer.

Background/objectives: Gut microbiota interacts with nutrients, which may be relevant to assigning a microbial signature to colorectal cancer (CRC). We aim to evaluate the potential of gut microbiota combined with dietary habits in the early detection of pathological findings related to CRC in the course of a screening program.

Methodology: The colonoscopy performed on 152 subjects positive for fecal occult blood test showed that 6 subjects had adenocarcinoma, 123 had polyps, and 23 subjects had no pathological findings.

Long-Term Clinical Study on Sandblasted-Acid-Etched Surface Dental Implants: 12-Year Follow-Up.

Sandblasting and acid etching are common procedures used to treat implant surfaces, enhancing osseointegration and improving clinical success rates. This clinical study aimed to evaluate the long-term outcomes of sandblasted and acid-etched implants. A total of 303 implants were placed in 114 partially and totally edentulous patients using a two-stage surgical technique and an early loading protocol (6-8 weeks).

Particulate matter and potentially toxic element content in urban ornamental plant species to assess pollutants trapping capacity.

Urban environments are usually polluted by anthropogenic activities like traffic, a major source of potentially toxic elements (PTEs), and ornamental plant species may reduce contamination by trapping traffic-related air pollutants in their leaves. The purpose of this study was tested the trapping pollutant capacity of four species commonly used in green areas of Seville city (SW Spain) to better choose species in urban green planning. Composition of particulate matter (PM) obtained from foliar surfaces (sPM) and wax-included (wPM) was determined by EDX-SEM analysis in samples from different city locations.

Impact of the COVID-19 pandemic on the mental health of Nursing students: A systematic review and meta-analysis.

Background: There is an increased prevalence of mental health problems in various population groups as a result of the COVID-19 pandemic and its consequences, especially regarding anxiety, stress, depression, fear, and sleep disturbances, require to be investigated longitudinally.

Objective: This study aimed to determine the impact that the COVID-19 pandemic had on the mental health of Nursing students, as well as to examine other associated factors such as anxiety, fear, sleep disturbances, and coping strategies.

Method: This systematic review and meta-analysis were designed following the PRISMA guidelines and were registered in PROSPERO with code CRD42024541904.

The Confluence Between Spiritual and Mental Health: A Phenomenological Approach to the Study of Healthcare Professionals' Experiences.

: Given the global concern about mental health in the world, different approaches are being explored in its approach and treatment. In this line, the care of the spiritual dimension has been shown in many studies to have a significantly positive relationship. In mental health units, the comprehensive approach that involves comprehensive care considers the spiritual dimension as an aspect of care that contributes to coping with mental health problems.

Diversity and composition of ocular microbiota in contact lens wearers: Efficacy of liposomal ozonated oil.

Purpose: To characterize the ocular surface microbiota in regular contact lens wearers with dry eyes and assess the effectiveness of reducing bacterial load using a liposomal ozonated oil solution.

Methods: This prospective, longitudinal, controlled study randomized subjects into two groups. Group A (45 subjects) received hydroxypropylmethylcellulose (HPMC, Artific®), while Group B (41 subjects) received ozonated sunflower seed oil with soybean phospholipids (OSSO, Ozonest®).

Impact of obesity on iron metabolism and the effect of intravenous iron supplementation in obese patients with absolute iron deficiency.

Obesity and iron deficiency (ID) are widespread health issues, with subclinical inflammation in obesity potentially contributing to ID through unclear mechanisms. The aim of the present work was to elucidate how obesity-associated inflammation disturb iron metabolism and to investigate the effect of intravenous (IV) iron supplementation on absolute iron deficient pre-obese (BMI 25.0-29.

The burden of X-linked retinitis pigmentosa (XLRP) on patient experience and patient-reported outcomes (PROs): findings from the EXPLORE XLRP-2 study.

Background/aims: X-linked retinitis pigmentosa (XLRP) is considered one of the most severe forms of retinitis pigmentosa (RP), accounting for 5-15% of all RP cases and primarily affecting males. However, the real-world humanistic impacts of this disease on patients are poorly investigated, especially with respect to burdens faced by patients with varying disease severities.

Methods: EXPLORE XLRP-2 was an exploratory, multicentre, non-interventional study.

Stress Reduction in Perioperative Care: Feasibility Randomized Controlled Trial.

Background: Patients undergoing surgery often experience stress and anxiety, which can increase complications and hinder recovery. Effective management of these psychological factors is key to improving outcomes. Preoperative anxiety is inversely correlated with the amount of information patients receive, but accessible, personalized support remains limited, especially in preoperative settings.

Persistent elite controllers as the key model to identify permanent HIV remission.

Purpose Of Review: To summarize the heterogeneity in the elite controllers population with the aim to identify a compatible profile with a persistent HIV remission, making distinction between persistent elite controllers, people with HIV (PWHIV) who permanently maintain virological control in the absence of antiretroviral treatment (ART), and transient elite controllers, PWHIV who eventually lose virological control. For this purpose, it is important to consider the mechanisms and biomarkers that have previously been associated with the maintenance and loss of the natural virological control.

Recent Findings: Transient elite controllers, before losing virological control, exhibit a distinct metabolomic, proteomic, microRNAs (miRNA), immunological and virological profile compared to persistent elite controllers.

Physical Activity and Exercise Interventions in Abdominal Wall Hernia Patients: Impact on Quality of Life and Health Outcomes - A Systematic Review and Meta-Analysis.

Objective: Abdominal wall hernias are a common pathology in the surgical field, often leading to symptoms such as pain and tightness that can significantly reduce quality of life. Some studies have suggested that exercise and physical activity may improve both quality of life and health outcomes. This study aimed to evaluate the impact of exercise on quality of life and health outcomes in abdominal wall hernia patients through a qualitative systematic review and a quantitative meta-analysis.

Evaluating the Clinical Impact of a Polyphenol-Rich Extract from on Patients with Transient Ischemic Attack and Minor Stroke.

Transient ischemic attack (TIA) is a well-established risk factor for future strokes, making interventions that target recovery and vascular risk crucial. This study aimed to assess the safety and clinical effects of a polyphenol-rich extract in post-TIA patients. A randomized, triple-blind, placebo-controlled trial was conducted with participants who had a history of TIA or minor stroke and who received 1 g of Salicornia extract or placebo over 11 months.