Genetic Variants of GBP4: Reduced Risks for Drug-Induced Acute Liver Failure in Non-Finnish European Population.

Background And Aims: Acute liver failure (ALF) is a serious condition, typically in individuals without prior liver disease. Drug-induced ALF (DIALF) constitutes a major portion of ALF cases. Our research aimed to identify potential genetic predispositions to DIALF.

Diet, Advanced Maternal Age, and Neonatal Outcomes: Results from the GESTAGE Study.

Maternal nutrition during pregnancy plays a pivotal role in influencing both maternal and fetal health, impacting neonatal anthropometric outcomes and long-term disease susceptibility. An advanced maternal age (AMA ≥ 35 years) has been linked to increased risks of obstetric complications and adverse neonatal outcomes, yet its specific nutritional profile remains underexplored. : This study aimed to evaluate the nutrient and polyphenol intakes of women at an AMA compared to those of a younger control group and to investigate associations with neonatal anthropometric measures.

KLRB1 expression in nasopharyngeal mucosa as a prognostic biomarker in COVID-19 patients.

The resurgence of COVID-19 and the rise in severe outcomes emphasize the need for reliable prognostic markers to guide patient care and optimize ICU and hospital resources. This study investigates the potential of nasopharyngeal swabs to identify biomarkers that predict ICU admission or death in hospitalized COVID-19 patients. We analyzed nasopharyngeal exudates from 95 hospitalized patients in 2020 using high-plex RNA quantification on the NanoString nCounter platform.

Unraveling the molecular complexity of bicuspid aortopathy: Lessons from comparative proteomics.

Molecular markers and pathways involved in the etiology and pathophysiology of bicuspid aortopathy are poorly understood. The aim here is to delve into the molecular and cellular mechanisms of the disease and identify potential predictive molecular markers using a well-established isogenic hamster model (T-strain) of bicuspid aortic valve (BAV) and thoracic aortic dilatation (TAD). We carried out comparative quantitative proteomics combined with western blot and morpho-molecular analyses in the ascending aorta of tricuspid aortic valve (TAV) and BAV animals from the T-strain, and TAV animals from a control strain.

Real-World Experience in Tricuspid Transcatheter Edge-to-Edge Repair: Transcatheter Tricuspid Valve Repair in Spain Registry.

Background: Significant tricuspid regurgitation (TR) is associated with increased morbidity and mortality. The development of transcatheter valve repair therapies has opened a wide range of opportunities for treatment of patients with high surgical risk. Real-world data might improve patient selection and outcome.

The impact of neoadjuvant therapy in patients with left-sided resectable pancreatic cancer: an international multicenter study.

Purpose: To assess the association between neoadjuvant therapy and overall survival (OS) in patients with left-sided resectable pancreatic cancer (RPC) compared to upfront surgery.

Background: Left-sided pancreatic cancer is associated with worse OS compared to right-sided pancreatic cancer. Although neoadjuvant therapy is currently seen as not effective in patients with RPC, current randomized trials included mostly patients with right-sided RPC.

Novel prehospital lactate cut-off estimation for mortality: a multicentre observational study.

Objectives: Point-of-care testing available in prehospital settings requires the establishment of new medical decision points. The aim of the present work was to determine the cut-off of the lactate threshold that activates alert triggers for all-cause 2-day mortality.

Design: Multicentre, prospective, ambulance-based, observational study.

Longitudinal DNA methylation profiles in saliva of offspring from mothers with gestational diabetes: associations with early childhood growth patterns.

Background: The prevalence of obesity and type 2 diabetes mellitus (T2DM) is rising globally, particularly among children exposed to adverse intrauterine environments, such as those associated with gestational diabetes mellitus (GDM). Epigenetic modifications, specifically DNA methylation, have emerged as mechanisms by which early environmental exposures can predispose offspring to metabolic diseases. This study aimed to investigate DNA methylation differences in children born to mothers with GDM compared to non-GDM mothers, using saliva samples, and to assess the association of these epigenetic patterns with early growth measurements.

Second-Line Treatment Options for Patients with Metastatic Triple-Negative Breast Cancer: A Review of the Clinical Evidence.

Metastatic triple-negative breast cancer has a poor prognosis and poses significant therapeutic challenges. Until recently, limited therapeutic options have been available for patients with advanced disease after failure of first-line chemotherapy. The aim of this review is to assess the current evidence supporting second-line treatment options in patients with metastatic triple-negative breast cancer.

Prospective association of changes in (poly)phenol intake, body weight and physical activity with inflammatory profile.

Backgrounds And Aim: To prospectively evaluate the associations between changes in (poly)phenol intake, body weight(BW), and physical activity(PA) with changes in an inflammatory score after 1-year.

Methods And Results: This is a prospective observational analysis involving 484 participants from the PREDIMED-Plus with available inflammatory measurements. (Poly)phenol intake was estimated using a validated semi-quantitative food frequency questionnaire and the Phenol-Explorer database.

Relationship Between Vitamin D Levels with In-Hospital Complications and Morphofunctional Recovery in a Cohort of Patients After Severe COVID-19 Across Different Obesity Phenotypes.

Background And Objectives: the COVID-19 pandemic underscored the necessity of understanding the factors influencing susceptibility and disease severity, as well as a better recovery of functional status, especially in postcritical patients. evidence regarding the efficacy of vitamin D supplementation in reducing the severity of COVID-19 is still insufficient due to the lack of primary robust trial-based data and heterogeneous study designs. the principal aims of our study were to determine the impact of vitamin D deficiency or insufficiency on complications during intensive care unit (icu) stay, as well as its role in muscle mass and strength improvement as well as morphofunctional recovery during a multispecialty 6-month follow-up program based on adapted nutritional support and specific physical rehabilitation.

Dry eye disease and morphological changes in the anterior chamber in people with cystic fibrosis.

Background: Cystic fibrosis (CF) is caused by variants in a gene that encodes a protein essential for water and ion transport in the epithelial cells of exocrine organs. Given the possible relationship of this protein and conjunctival and corneal epithelium, the aim of this study was to evaluate ophthalmologic alterations in people with CF.

Methods: Forty-five people with CF underwent pulmonary evaluation including inflammatory score (IS).

Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.

Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease). The objective of this narrative review is to examine the most important aspects of the diagnosis and treatment of LAL-D and to provide practical expert recommendations. The infantile-onset form occurs in the first weeks of life and is characterized by malnourishment and failure to thrive due to gastrointestinal impairment (vomiting, diarrhea, malabsorption), as well as systemic inflammation, hepatosplenomegaly, and adrenal calcifications.

Advanced Management of Patients Undergoing Transcatheter Treatment for Pulmonary Embolism: Evidence-Based Strategies for Optimized Patient Care.

Pulmonary embolism (PE) is a life-threatening medical condition caused by the thrombotic occlusion of one or more branches of the lung vasculature, which represents the third most common cause of cardiovascular mortality after myocardial infarction and stroke. PE treatment requires a tailored approach based on accurate risk stratification and personalized treatment decision-making. Anticoagulation is the cornerstone of PE management, yet patients at higher clinical risk may require more rapid reperfusion therapies.

miRNA Expression: I/R Cardiomyocyte and Sevoflurane.

Background: The effects of anesthetic drugs on myocardial cells have been a subject of research for the last 50 years. The clinical benefits of halogenated agents, particularly sevoflurane, have been demonstrated in cardiac surgery patients. These benefits are due to the action of different enzymes and a variety of molecular pathways mediated by the action of small noncoding RNAs (sRNA) such as microRNAs (miRNAs).

Predictive Factors of the Degrees of Malnutrition According to GLIM Criteria in Head and Neck Cancer Patients: Valor Group.

Malnutrition is highly prevalent in patients with head and neck cancer, with relevant consequences in the treatment results. Multicenter observational study including 514 patients diagnosed with HNC. The morphofunctional assessment was carried out during the first 2 weeks of radiotherapy treatment.

Oncological resection and perioperative outcomes of robotic, laparoscopic and open pancreatoduodenectomy for ampullary adenocarcinoma: a propensity score matched international multicenter cohort study.

Background: Ampullary adenocarcinoma (AAC) typically presents at an early stage due to biliary obstruction and therefore might be specifically suitable for minimally invasive pancreatoduodenectomy (MIPD). However, studies assessing MIPD specifically for AAC, including the robotic and laparoscopic approach, are limited. The aim of this study is to compare short- and long-term oncological resection and perioperative outcomes of robotic (RPD), laparoscopic (LPD) and open pancreatoduodenectomy (OPD) performed specifically for AAC.

The spatially informed mFISHseq assay resolves biomarker discordance and predicts treatment response in breast cancer.

Current assays fail to address breast cancer's complex biology and accurately predict treatment response. On a retrospective cohort of 1082 female breast tissues, we develop and validate mFISHseq, which integrates multiplexed RNA fluorescent in situ hybridization with RNA-sequencing, guided by laser capture microdissection. This technique ensures tumor purity, unbiased whole transcriptome profiling, and explicitly quantifies intratumoral heterogeneity.

Ileal Predominance in Crohn's Disease Is Associated With Increased Intestinal Surgery and Biological Therapy Use, With Lower Treatment Persistence.

Introduction: Crohn's disease (CD) varies by location, potentially affecting therapy efficacy and surgery risk, although research on this topic is conflicting. This study aims to investigate the independent association between CD location and therapeutic patterns.

Methods: We analyzed patients with CD diagnosed from January 2005 to May 2023 registered in the nationwide ENEIDA registry.

Serum miR-365b-5p/miR-222-5p as a potential diagnostic biomarker for long-term weight loss in patients with morbid obesity after bariatric surgery.

Background: The successful weight loss following bariatric surgery is not achieved in all patients with morbid obesity (MO). This study aims to determine whether a serum miRNA profile can predict this outcome.

Design: Thirty-three patients with MO were classified in "Good Responders" (GR, percentage of excess weight loss (%EWL) ≥ 50 %) or "Non-Responders" (NR, %EWL < 50 %) according to the %EWL 5-8 year following bariatric surgery.

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.

Olfactory Dysfunction as a Biomarker for Early Diagnosis of Cognitive Impairment in Patients With Type 2 Diabetes: A Systematic Review.

Olfactory dysfunction and cognitive impairment (CI) have been associated with Type 2 diabetes (T2DM), but the mechanisms underlying this association are broadly unknown. This systematic review tends to investigate the relationship between the onset of olfactory dysfunction and CI in patients with T2DM and to explore the potential role of olfactory dysfunction as an early diagnosis biomarker of CI. We conducted a systematic review consulting PubMed and Scopus.

Effect of an intensive lifestyle intervention on cystatin C-based kidney function in adults with overweight and obesity: From the PREDIMED-Plus trial.

Background: Large-scale trials evaluating a multicomponent lifestyle intervention aimed at weight loss on kidney function are lacking.

Methods: This was a post hoc analysis of the "PREvención con DIeta MEDiterránea-Plus" (PREDIMED-Plus) randomized controlled trial, including patients with overweight/obesity and metabolic syndrome, measured cystatin C and creatinine. Participants were randomly assigned (1:1) to an intensive weight loss lifestyle intervention (intervention group [IG]) consisting of an energy-restricted Mediterranean diet (MedDiet), physical activity promotion and behavioral support, or a control group (CG) receiving ad libitum MedDiet recommendations.