Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations.

Background: Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are "primary" epimutations, arising de novo without any apparent underlying cis-genetic cause, and are reversible between generations.

The study protocol of a double-blind randomized controlled trial of EMDR and multifocal transcranial current stimulation (MtCS) as augmentation strategy in patients with fibromyalgia.

Background: Fibromyalgia (FM) is a generalized, widespread chronic pain disorder affecting 2.7% of the general population. In recent years, different studies have observed a strong association between FM and psychological trauma.

Assessment of the efficacy of palliative sedation in advanced cancer patients by evaluating discomfort levels: a prospective, international, multicenter observational study.

Background: Palliative sedation involves the intentional proportional lowering of the level of consciousness in patients with life-limiting disease who are experiencing refractory suffering. The efficacy of palliative sedation needs to be monitored to ensure patient comfort. The aim of this study was to evaluate the efficacy using discomfort levels combined with sedation/agitation levels.

Associations between health, productive performance and oral fluid biomarkers in commercial pig farms.

Background: Oral fluid contains analytes that may be reflective of health and welfare in pig herds. Additionally, oral fluid collection is a more convenient and cost-effective option when compared to blood sampling, increasing the potential of oral fluid as a non-invasive alternative tool. While a growing number of biomarkers can be measured in porcine oral fluid, the use of these analytes to compare commercial herds in veterinary practice is still limited.

Relationships between the Planetary Health Diet Index, its food groups, and polygenic risk of obesity in the CARTaGENE cohort.

Background: The Planetary Health Diet, proposed by the EAT-Lancet Commission, seeks to promote a sustainable and healthy diet for both humans and the environment. However, few studies have investigated relationships between the Planetary Health Diet and the genetic pathway of obesity. The aim of this study was to assess whether adherence to a Planetary Health Diet Index (PHDI) mediated or moderated the genetic susceptibility to obesity.

Clinical and ultrasound characteristics in patients with sars-cov-2 pneumonia, associated with hospitalization prognosis. e-covid project.

Background: During the COVID-19 pandemia, the imaging test of choice to diagnose COVID-19 pneumonia as chest computed tomography (CT). However, access was limited in the hospital setting and patients treated in Primary Care (PC) could only access the chest x-ray as an imaging test. Several scientific articles that demonstrated the sensitivity of lung ultrasound, being superior to chest x-ray [Cleverley J et al.

Is Bone Marrow Trephine Biopsy Necessary in Multiple Myeloma Patients at Diagnosis?

Multiple myeloma (MM) diagnosis requires ≥10% plasma cell (PC) infiltration in the bone marrow (BM), detected by bone marrow aspiration (BMA) or biopsy (BMB). We evaluated the concordance of these 2 techniques in 189 patients. In 43 cases (23%), the techniques were discordant, 10 due to poor sample quality.

Glycemic and weight control in people with type 2 diabetes: A real-world observational study in primary care.

Aims: To analyze glycemic and bodyweight control in people with type 2 diabetes mellitus (T2DM), and prescribing patterns in primary care.

Methods: We reviewed the electronic medical records of 5009 randomly selected T2DM patients, from 70 health centers in Spain. We analyzed results by age group and presence/absence of obesity.

Renal-clearable probes for disease detection and monitoring.

The demand for novel, minimally invasive, cost-effective, and easily readable diagnostic tools, primarily designed for the longitudinal monitoring of diseases and their treatments, has promoted the development of diagnostic systems that selectively target cells, tissues, or organs, at the same time minimizing their nonspecific accumulation, thus reducing the risk of toxicity and side effects. In this review, we explore the development of renal-clearable systems in non-invasive or minimally invasive detection protocols, all with the objective of minimizing nonspecific accumulation and its associated toxicity effects through quick renal excretion. These probes can identify molecules of interest or different healthy states of the patients through the direct analysis of urine (urinalysis).

Impact on Survival of Heart and Heart-Lung Transplantation in Patients With Cyanotic and Noncyanotic Congenital Heart Diseases.

Background: A high percentage of patients with congenital heart diseases (CHD) reach adulthood and, over time, require heart transplantation (HTx) or combined heart-lung transplantation (HLTx). Among CHD, there are subgroups associated with a higher risk.

Methods: Retrospective analysis of HTx and HLTx in CHD patients.

Cost analysis associated with intramuscular versus oral administration of antiretroviral therapy in the management of human immunodeficiency virus infection.

Objetive: To identify and analyze the resources and costs associated with the administration of intramuscular antiretroviral therapy (ART) cabotegravir+rilpivirine (CAB+RPV) compared to oral ART in the management of Human Immunodeficiency Virus Type 1 (HIV-1) infection in Spain.

Methods: An economic model was developed to identify resources and analyze costs from the perspective of the National Health System (NHS) and societal, associated with the administration of intramuscular ART (CAB+RPV) compared to oral ART over a two-year time horizon. Costs included treatment change monitoring, pharmaceutical dispensation, administration, management of adverse events to injection-site reactions (AEs-ISR), travel to the hospital, telepharmacy service, and lost work productivity.

Evaluation of Zhuhai DL Biotech's BT24 automated blood culture system.

Introduction: For the microbiological diagnosis of bacteremia and fungemia, it is essential to use automated blood culture systems that guarantee good performance in the detection of microorganisms. We evaluated the BT24 system for blood cultures by comparing it with the BACTEC™ FX system in detection of positive spiked blood cultures (BC) and bottles, subsequent growth of the microorganism, and time to detection (TTD).

Methods: The parallel analysis of both systems was performed with 160 strains of 31 different species, each inoculated under the same conditions and simultaneously in six blood culture bottles.

Socioeconomic inequalities in adherence to clinical practice guidelines and breast cancer survival: a multicentre population-based study in Spain.

Introduction And Aims: Women residing in lower socioeconomic status (SES) areas have lower breast cancer survival but it is not clear how differences in the quality of care received contribute to these disparities. We compared adherence to clinical practice guidelines (CPG) for the diagnosis and treatment of breast cancer and subsequent breast cancer survival between women residing in lower versus higher SES areas.

Methods: We conducted a multicentre population-based study of all new cases of invasive breast cancer in women diagnosed 2010-2014 in six Spanish provinces with population-based cancer registries (n=3206).

Effects of Metabolic Dysfunction-Associated Steatohepatitis in Alertness, Associative Learning, and Astrocyte Density.

Purpose: Metabolic dysfunction-associated steatohepatitis (MASH) is a prevalent disease caused by high fat and high cholesterol intake, which leads to systemic deterioration. The aim of this research is to conduct a psychobiological exploration of MASH in adult male rats.

Methods: Subjects who were administered a high-fat and high-cholesterol diet for 14 weeks.

Effect of Premeal Pistachio Supplementation on Cardiometabolic Risk Factors among Asian Indian Adults with Prediabetes: A Randomized Controlled Trial.

Background: Asian Indians are susceptible to developing type 2 diabetes at a lower age and often consume diets that are high in glycemic load and low in healthy fats.

Objectives: This study aimed to evaluate the effect of 30 g prebreakfast and 30 g predinner supplementation of pistachios for 12 wk on glycated hemoglobin (HbA1c), other glycemic markers, anthropometry, and lipid profile of Asian Indians with prediabetes.

Methods: In a 12-wk parallel arm, randomized controlled trial, we recruited 120 participants with prediabetes based on American Diabetes Association criteria.

Prevention of Stroke in Intracerebral Haemorrhage Survivors with Atrial Fibrillation: Rationale and Design for PRESTIGE-AF Trial.

Adequate secondary prevention in survivors of intracerebral hemorrhage (ICH) who also have atrial fibrillation (AF) is a long-standing clinical dilemma because these patients are at increased risk of recurrent ICH as well as of ischemic stroke. The efficacy and safety of oral anticoagulation, the standard preventive medication for ischemic stroke patients with AF, in ICH patients with AF are uncertain. PRESTIGE-AF is an international, phase 3b, multi-center, randomized, open, blinded end-point assessment (PROBE) clinical trial that compared the efficacy and safety of direct oral anticoagulants (DOACs) with no DOAC (either no antithrombotic treatment or any antiplatelet drug).

Hypothalamic SIRT1-mediated regulation of the hormonal trigger of ovulation and its repression in energy deficit.

Female reproduction is highly sensitive to body energy stores; persistent energy deficit, as seen in anorexia or strenuous exercise, is known to suppress ovulation via ill-defined mechanisms. We report herein that hypothalamic SIRT1, a key component of the epigenetic machinery that links nutritional status and puberty onset via modulation of Kiss1, plays a critical role in the control of the preovulatory surge of gonadotropins, i.e.

Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study.

Background: Vosoritide is a C-type natriuretic peptide analog that addresses an underlying pathway causing reduced bone growth in achondroplasia. Understanding the vosoritide treatment effect requires evaluation over an extended duration and comparison with outcomes in untreated children.

Methods: After completing ≥6 months of a baseline observational growth study and 52 weeks in a double-blind, placebo-controlled study (ClinicalTrials.

Comparative Effects of the Free Weights and Smith Machine Squat and Bench Press: The Important Role of Specificity for Strength Adaptations.

Purpose: Although previous studies have compared strength-training adaptations between free weights (FW) and machine-guided exercises, those studies did not use a Smith machine (SM), which most closely replicates the exercises performed with FW. Thus, the aim of the present study was to investigate the chronic effects of strength-focused, velocity-based training regimens using FW versus SM.

Methods: Thirty-seven sport-science students (14 female) were assigned, balanced by sex and relative strength, to either an FW or SM training group.

Enhancing hexavalent chromium stable reduction via sodium alginate encapsulation of newly isolated fungal and bacterial consortia.

Chromium [Cr(VI)]-induced soil pollution is a serious environmental threat. Bioremediation utilizes specific microbes capable of transforming Cr(VI) into the less toxic Cr(III), however, microbial efficacy can be inhibited by elevated pollutant concentrations and competition from indigenous microbial communities. Thus, this study explored the potential of single and multi-domain microbial consortia encapsulated in alginate to overcome these shortcomings.

A chemometric approach to the interaction of hydrogen peroxide and thermally activated persulfate in the removal of aromatic compounds.

This study evaluates the combined use of H₂O₂ and thermally activated S₂O₈⁻ (T-PDS) for the degradation of phenolic compounds (PhOH) in wastewater, aiming to limit or eliminate sludge production. Phenolic compounds are common in industrial effluents, and their effective removal is crucial for reducing environmental impact. The study employs Response Surface Methodology (RSM) and Principal Component Analysis (PCA) to optimise critical variables such as temperature, pH, and oxidant concentrations.

Potential feeding sites for seabirds and marine mammals reveal large overlap with offshore wind energy development worldwide.

Offshore wind energy is experiencing accelerated growth worldwide to support global net zero ambitions. To ensure responsible development and to protect the natural environment, it is essential to understand and mitigate the potential impacts on wildlife, particularly on seabirds and marine mammals. However, fully understanding the effects of offshore wind energy production requires characterising its global geographic occurrence and its potential overlap with marine species.

Natural pigments and biogas recovery from cyanobacteria grown in treated wastewater. Fate of organic microcontaminants.

Cyanobacterial wastewater-based biorefineries are a sustainable alternative to obtain high-value products with reduced costs. This study aimed to obtain phycobiliproteins and carotenoids, along with biogas from a wastewater-borne cyanobacterium grown in secondary effluent from an urban wastewater treatment plant, namely treated wastewater. For the first time, the presence of contaminants of emerging concern in concentrated pigment extracts was assessed.

Professional-patient discrepancies in assessing lung cancer radiotherapy symptoms: An international multicentre study.

Background And Purpose: We investigate discrepancies in the assessment of treatment-related symptoms in lung cancer between healthcare professionals and patients, and factors contributing to these discrepancies.

Materials And Methods: Data from 515 participants in the REQUITE study were analysed. Five symptoms (cough, dyspnoea, bronchopulmonary haemorrhage, chest wall pain, dysphagia) were evaluated both before and after radiotherapy.

Finding of situs inversus in endoscopic sleeve gastroplasty: Case report.

Introduction And Importance: Situs inversus is an anatomical rare condition in which visceral organs are not located in its normal position, with a reversal anatomical orientation.

Case Presentation: We present a case of an 27-year-old male with a Body Mass Index (BMI) of 36.02 Kg/m2, who was programed for a Endoscopic Sleeve Gastroplasty (ESG), in which Situs inversus was documented.