MOMAST Downregulates AQP3 Expression and Function in Human Colon Cells.

The water channel AQP3 is an aquaglyceroporin expressed in villus epithelial cells, and it plays a role in water transport across human colonic surface cells. Beyond water, AQP3 can mediate glycerol and HO transport. Abnormal expression and function of AQP3 have been found in various diseases often characterized by altered cell growth and proliferation.

The Genetic and Epigenetic Arms of Human Ageing and Longevity.

This proposed review aims to shed light on the major genetic and epigenetic contributions to the ageing process and longevity of individuals. In this context, we summarize the state of knowledge on the most important longevity and ageing genetic variants, and their interactions with the environment, in achieving a healthy lifespan. We also explore the contribution of lifestyle and the influence of non-heritable environmental factors on ageing (i.

Assessment of Quality of Life and Psychological Well-Being in Italian Adult Subjects with Prader-Willi Syndrome Using the Health Survey Short Form and the Psychological General Well-Being Index Questionnaires.

: Prader-Willi syndrome (PWS) is a rare, genetically determined neurodevelopmental disorder. Individuals with PWS face numerous challenges that significantly impact their psychological well-being and quality of life, ultimately limiting their personal and social functioning. This study aimed to evaluate the quality of life and psychological well-being in a sample of Italian adult patients with PWS compared to an age-matched control group of normal-weight Italian individuals.

Exploring Literacy and Knowledge Gaps and Disparities in Genetics and Oncogenomics Among Cancer Patients and the General Population: A Scoping Review.

Background: Genetic and genomic literacy is pivotal in empowering cancer patients and citizens to navigate the complexities of omics sciences, resolve misconceptions surrounding clinical research and genetic/genomic testing, and make informed decisions about their health. In a fast-evolving scenario where routine testing has become widespread in healthcare, this scoping review sought to pinpoint existing gaps in literacy and understanding among cancer patients and the general public regarding genetics and genomics.

Methods: Adhering to the PRISMA framework, the review included 43 studies published between January 2018 and June 2024, which evaluated the understanding of genetics and genomics among cancer patients, caregivers, and citizens.

Relationship Between Myocardial Strain and Extracellular Volume: Exploratory Study in Patients with Severe Aortic Stenosis Undergoing Photon-Counting Detector CT.

: Diffuse myocardial fibrosis and altered deformation are relevant prognostic factors in aortic stenosis (AS) patients. The aim of this exploratory study was to investigate the relationship between myocardial strain, and myocardial extracellular volume (ECV) in patients with severe AS with a photon-counting detector (PCD)-CT. : We retrospectively included 77 patients with severe AS undergoing PCD-CT imaging for transcatheter aortic valve replacement (TAVR) planning between January 2022 and May 2024 with a protocol including a non-contrast cardiac scan, an ECG-gated helical coronary CT angiography (CCTA), and a cardiac late enhancement scan.

Advances in Cardiovascular Multimodality Imaging in Patients with Marfan Syndrome.

Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, often leading to cardiovascular complications such as aortic aneurysms and mitral valve prolapse. Cardiovascular multimodality imaging plays a crucial role in the diagnosis, monitoring, and management of MFS patients. This review explores the advancements in echocardiography, cardiovascular magnetic resonance (CMR), cardiac computed tomography (CCT), and nuclear medicine techniques in MFS.

Anderson-Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies.

Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disorder characterized by the accumulation of globotriaosylceramide, leading to multi-organ involvement and significant morbidity. Cardiovascular manifestations, particularly arrhythmias, are common and pose a considerable risk to affected individuals. This overview examines current approaches to arrhythmic risk stratification in AFD, focusing on the identification, assessment, and management of cardiac arrhythmias associated with the disease.

Effects of Diets Containing Extruded Linseed and Algae on Meat Rabbit: Carcass Performance and Meat Quality.

This study investigated the effects of dietary supplementation with extruded linseed (ELS) and algae extract (PP) on rabbit carcass and meat quality. Ninety-six rabbit carcasses from two production cycles were analyzed. In the first cycle (C1), rabbits were fed a control diet (1CNT), the same diet supplemented with 5% ELS (1ELS5%), and supplemented with 3.

Ex Vivo, In Vitro and In Vivo Bone Health Properties of Grana Padano Cheese.

Grana Padano (GP) is an Italian hard cooked cheese characterized by a long ripening process and high protein and Ca contents. After in vitro static simulated gastrointestinal digestion, GP digest contained caseinophosphopeptides that were 6 to 24 amino acids in length, including tri-phosphorylated species incorporating the pSer-pSer-pSer-Glu-Glu cluster. Using rat ileum tissue, the digest was used to assess Ca absorption ex vivo, which showed significantly better results for the GP digest in comparison to the CaCO aqueous solution.

Predictive value of TG/HDL-C and GFR-adjusted uric acid levels on cardiovascular mortality: the URRAH study.

Background: Insulin resistance (IR) and serum uric acid (SUA) are closely interconnected: SUA contributes to adversely affects the insulin signaling pathway and contributes to IR, while IR is a known predictor for the development of hyperuricemia. The triglyceride (TG) to high-density lipoprotein cholesterol (HDL-C) ratio has been proposed as an easily obtainable marker for IR. This research aimed to investigate the interaction between IR and glomerular filtration rate (GFR)-adjusted uricemia (SUA/GFR ratio) in determining CV risk in a large population cohort study.

Plasma levels of glial fibrillary acidic protein and neurofilament light chain in patients with chronic migraine: a multicenter case-control study.

Objective: Plasma glial fibrillary acidic protein (pGFAP) and plasma neurofilament light chain (pNfL) levels reflect astrocyte activation and neuronal damage, respectively. Whether these phenomena play a role in migraine is unknown. This study aimed to compare pGFAP and pNfL levels in patients with chronic migraine (CM) and age-matched controls and to analyze their relation with clinical features.

Multiomics approach identifies dysregulated lipidomic and proteomic networks in Parkinson's disease patients mutated in TMEM175.

Parkinson's disease (PD) represents one of the most frequent neurodegenerative disorders for which clinically useful biomarkers remain to be identified and validated. Here, we adopted an untargeted omics approach to disclose lipidomic, metabolomic and proteomic alterations in plasma and in dermal fibroblasts of PD patients carrying mutations in TMEM175 gene. We revealed a wide dysregulation of lysosome, autophagy, and mitochondrial pathways in these patients, supporting a role of this channel in regulating these cellular processes.

Specific types of male infertility are correlated with T cell exhaustion or senescence signatures.

The association between male infertility and health status has yet to be unraveled. Here, by combining multiparameter phenotyping and scRNA-seq, we delineate the immune status of infertile men both at the semen and systemic levels. We first observe that young infertile men have a pro-inflammatory milieu with increased frequency of myeloid cells and inflammatory mediators in the seminal fluid and the peripheral blood, which are immune alterations typically observed in healthy elderly men.

Comparison of Hernia Sac Transection and Full Sac Reduction for the Treatment of Inguinal Hernias: A Systematic Review and Meta-Analysis of Clinical Trials.

Background: The history of inguinal hernia repair has been marked by the description of several therapies over ages, each with its own approach to managing the hernial sac. An analysis of hernia sac transection (with or without high ligation) versus reduction (invagination) in adults who underwent Lichtenstein open tension-free inguinal hernia repair and in adult and pediatric patients who underwent suture repair has been the primary aim of this systematic review and meta-analysis.

Methods: The authors conducted a comprehensive review and meta-analysis.

The influence of positive and negative intraoperative feedback in laparoscopic simulation in pediatric urology training.

Background And Objective: This study aimed to explore the impact of positive or negative feedback on the performance of trainees in pediatric urology during simulation exercises in pediatric laparoscopy.

Methods: Twenty-five students enrolled in a national Pediatric Urology Laparoscopy Simulation participated in the study. They performed the Fundamentals of Laparoscopic Surgery (FLS) skills, specifically peg-transfer and intracorporeal knot-tying, in a randomized study design while receiving positive or negative feedback from an attending pediatric urologist.

Exploring neutrophils as therapeutic targets in cardiometabolic diseases.

Current therapies for diabetes and atherosclerotic cardiovascular diseases (ACVDs) mainly target metabolic risk factors, but often fall short in addressing systemic inflammation, a key driver of disease onset and progression. Advances in our understanding of the biology of neutrophils, the cells that are principally involved in inflammatory situations, have highlighted their pivotal role in cardiometabolic diseases. Yet, neutrophils can reprogram their immune-metabolic functions based on the energetic substrates available, thus influencing both tissue homeostasis and the resolution of inflammation.

International benchmarking of stage at diagnosis for six childhood solid tumours (the BENCHISTA project): a population-based, retrospective cohort study.

Background: International variation in childhood cancer survival might be explained by differences in stage at diagnosis, among other factors. As part of the BENCHISTA project, we aimed to assess geographical variation in tumour stage at diagnosis through the application, by population-based cancer registries working with clinicians, of the international consensus Toronto Childhood Cancer Stage Guidelines.

Methods: This population-based, retrospective cohort study involved 67 cancer registries from 23 European countries, Australia, Brazil, Japan, and Canada.

Trends and Updates in the Management and Outcomes of Acute Uncomplicated Type B Aortic Dissection.

Type B aortic dissection (TBAD) presents a complex clinical challenge requiring coordinated, multidisciplinary care to optimize patient outcomes. While rapid intervention is crucial for complicated TBAD, the optimal management of uncomplicated cases remains less well-defined. Historically, uncomplicated TBAD was managed medically, but recent years have seen a shift toward selective interventional approaches.

Quantification of solvation forces with amplitude modulation AFM.

Hypothesis: Interfacial solvation forces arise from the organisation of liquid molecules near solid surfaces. They are crucial to fundamental phenomena, spanning materials science, molecular biology, and technological applications, yet their molecular details remain poorly understood. Achieving a complete understanding requires imaging techniques, such as three-dimensional atomic force microscopy (3D AFM), to provide atomically resolved images of solid-liquid interfaces (SLIs).

The role of non-respiratory arousals in residual daytime sleepiness in patients with obstructive sleep apnea treated with positive airway pressure: An analysis of the European Sleep Apnea Database registry.

Study Objectives: To assess the impact of the non-respiratory arousal burden at baseline polysomnography (PSG) on residual daytime sleepiness in positive airway pressure (PAP)-treated obstructive sleep apnea (OSA).

Methods: We included OSA patients from the European Sleep Apnea Database registry with available arousal data who had at least 2 treatment follow-up visits. The primary outcome was the Epworth Sleepiness Scale (ESS) score under PAP.

Exploring specific alterations at the explicit and perceptual levels in sense of ownership, agency, and body schema in Functional Motor Disorder: A pilot comparative study with Irritable Bowel Syndrome.

Functional Motor Disorders (FMD) consists in symptoms of altered motor function not attributable to typical neurological and medical conditions. This study aimed to explore explicit and perceptual measures of Sense of Ownership, Agency, and Body Schema in FMD patients, and assess whether these alterations are specific to FMD or shared with other functional disturbances. Twelve FMD patients, ten with Irritable Bowel Syndrome (IBS, a functional gastrointestinal disorder) and fifteen healthy controls (HC) underwent: (i) the Mirror Box Illusion (MBI), requiring participants to perform tapping movements with their dominant hand concealed from sight, while visual feedback was provided by an alien hand under visuo-motor congruency or incongruency conditions; (ii) a Forearm Bisection Task before and after exposure to the MBI, and the Embodiment Questionnaire after the MBI, as perceptual and explicit indices of the embodiment illusion, respectively.

Exploring ChatGPT's communication behaviour in healthcare interactions: A psycholinguistic perspective.

Objectives: Conversational artificial agents such as ChatGPT are commonly used by people seeking healthcare information. This study investigates whether ChatGPT exhibits distinct communicative behaviors in healthcare settings based on the nature of the disorder (medical or psychological) and the user communication style (neutral vs. expressing concern).

The 2024 Assisi think tank on breast cancer: Focus on the use of a tumour bed boost after breast conserving therapy.

At the Fifth Assisi Think Tank Meeting (ATTM) on breast cancer, one key topic was the role of tumor bed boost in invasive breast cancer and ductal carcinoma in situ. The need for a tumor bed boost after whole breast irradiation is controversial. A literature review assessed boost indications, target volume definition, techniques, dose fractionation, and ongoing trials.

Predictive model of intrahepatic collateral vessels among hepatic veins in patients with liver tumors involving the caval confluence.

Background: Communicating vessels among hepatic veins in patients with tumors invading/compressing hepatic veins at their caval confluence facilitate new surgical solutions. Although their recognition by intraoperative ultrasound has been described, the possibility of preoperative detection still remains uncertain. We aimed to develop a model to predict their presence before surgery.