Factors influencing the colorectal surveillance adherence in Lynch Syndrome: A retrospective monocentric study.

Background: Lynch syndrome (LS), an autosomal dominant disorder resulting from germline pathogenic variants in DNA mismatch repair genes, poses an elevated risk of developing different types of cancer, particularly colorectal and endometrial. Early identification of LS individuals is vital for implementing preventive measures. This study aims to assess the adherence rate of LS individuals to colorectal surveillance and identify influencing factors.

Exploring digital health: a qualitative study on adults' experiences with health apps and wearables.

Purpose: From an active ageing perspective, investigating how adults use apps and wearables for health purposes might improve well-being strategies supported by widely adopted technologies. This study investigated adults' perceptions of using apps and wearables for health purposes.

Methods: A qualitative interview study was conducted.

Impact of dementia and mild cognitive impairment on bone health in older people.

Mild cognitive impairment, dementia and osteoporosis are common diseases of ageing and, with the increasingly ageing global population, are increasing in prevalence. These conditions are closely associated, with shared risk factors, common underlying biological mechanisms and potential direct causal pathways. In this review, the epidemiological and mechanistic links between mild cognitive impairment, dementia and skeletal health are explored.

Targeting STMN2 for neuroprotection and neuromuscular recovery in Spinal Muscular Atrophy: evidence from in vitro and in vivo SMA models.

The development of ground-breaking Survival Motor Neuron (SMN) replacement strategies has revolutionized the field of Spinal Muscular Atrophy (SMA) research. However, the limitations of these therapies have now become evident, highlighting the need for the development of complementary targets beyond SMN replacement. To address these challenges, here we explored, in in vitro and in vivo disease models, Stathmin-2 (STMN2), a neuronal microtubule regulator implicated in neurodegenerative diseases like Amyotrophic Lateral Sclerosis (ALS), as a novel SMN-independent target for SMA therapy.

High-resolution DNA methylation changes reveal biomarkers of heart failure with preserved ejection fraction versus reduced ejection fraction.

Novel biomarkers are needed to better identify-and distinguish-heart failure with preserved ejection fraction (HFpEF) from other clinical phenotypes. The goal of our study was to identify epigenetic-sensitive biomarkers useful to a more accurate diagnosis of HFpEF. We performed a network-oriented genome-wide DNA methylation study of circulating CD4 T lymphocytes isolated from peripheral blood using reduced representation bisulfite sequencing (RRBS) in two cohorts (i.

Does irisin mediate metabolic effects of androgen deficiency? A cross-sectional study in men with chronic spinal cord injury.

Study Design: Retrospective study.

Objectives: To check the hypothesis that irisin could mediate systemic metabolic effects of testosterone in men with chronic spinal cord injury (SCI).

Setting: Spinal Unit of the San Raffaele Institute in Sulmona.

Time efficiency in mental state reasoning of people with multiple sclerosis: The double-sided affective and cognitive Theory of Mind disturbances.

 Theory of Mind (ToM) disturbances are recognized as a hallmark of several neurological conditions including multiple sclerosis (MS). People with MS show lower ToM competencies compared to healthy controls (HC) from the earliest stages of the disease. However, the nature of this disturbance is still under investigation.

The transcriptional profile of iron deficiency in patients with heart failure: Heme-sparing and reduced immune processes.

Aims: Iron deficiency (ID) is highly prevalent in patients with heart failure (HF) and associated with morbidity and poor prognosis, but pathophysiological mechanisms are unknown. We aimed to identify novel biological pathways affected by ID.

Methods And Results: We studied 881 patients with HF from the BIOSTAT-CHF cohort.

TYTOCARE™ home telemonitoring device after radical cystectomy to optimise postoperative outcomes.

Objectives: To evaluate the role of the TYTOCARE™ telemedicine programme for home telemonitoring during the early postoperative period following radical cystectomy (RC) in a prospective single-centre study.

Materials And Methods: The study included patients aged <80 years with internet access who underwent RC at our institution between March 2021 and August 2023. Upon discharge, patients were monitored at home using the TYTOCARE™ telemedicine system.

Mutational signatures define immune and Wnt-associated subtypes of ampullary carcinoma.

Background And Objective: Ampullary carcinoma (AMPAC) taxonomy is based on morphology and immunohistochemistry. This classification lacks prognostic reliability and unique genetic associations. We applied an approach of integrative genomics characterising patients with AMPAC exploring molecular subtypes that may guide personalised treatments.

Has the UK lost its position as a destination for world-leading clinical research? A comparative analysis of haematological cancer clinical trials performance before Brexit.

Objectives: To understand the competitive position of the UK in comparison to Europe and the USA for haematological cancer clinical research.

Design: Using commercially available databases, clinical trial numbers, their effectiveness and publication outputs were evaluated in two analyses: a macrodevelopment and a research activity and performance analysis.

Data Sources: The following databases were used for this analysis: Organisation for Economic Co-operation and Development, Thomson Reuters Incidence and Prevalence, the Cortellis Clinical Trial Intelligence, the Clarivate Cortellis Innography Patent Intelligence, Thomson-Reuters Cortellis Regulatory Intelligence, Thomson Reuters Web of Science and data from the Centre for Medicine Research (CMR).

Nursing home staff's experiences with the implementation of an automated blister packaging system for solid, orally ingestible drugs: a qualitative study in Northern Italy.

Objectives: To explore nursing home (NH) staff's experiences implementing an automated blister packaging system for solid, orally ingestible drugs.

Design: This was a descriptive qualitative study. Semistructured interviews were used for data collection, and qualitative content analysis was applied for data analysis.

The 36-week preeclampsia risk by the Fetal Medicine Foundation algorithm is associated with fetal compromise following induction of labor.

Background: Previous studies demonstrated that placental dysfunction leads to intrapartum fetal distress, particularly when an abnormal pattern of angiogenic markers is demonstrated at 36 weeks of gestation. Prediction of intrapartum fetal compromise is particularly important in patients undergoing induction of labor due to different indications for delivery, as this can be a useful in optimizing the method and timing of the induction.

Objective: To examine whether the risk of preeclampsia assessed by the Fetal Medicine Foundation (FMF) algorithm (derived from a combination of maternal risk factors, mean arterial pressure, placental growth factor and soluble fms-like tyrosine kinase-1), associates with the risk of intrapartum fetal compromise requiring cesarean delivery, in a population of singleton pregnancies undergoing labor induction for various indications.

CONOCIMIENTOS Y HÁBITOS SOBRE FOTOPROTECCIÓN EN ESTUDIANTES DE MEDICINA ESPAÑOLES E ITALIANOS.

Exposure to UV radiation is a major risk factor for the development of malignant skin neoplasms. Currently, there are no studies available on sun-exposure habits among different countries. We conducted a cross-sectional survey among medical students from the University of Rome, Italy and the University of Granada, Spain to compare their photoprotection knowledge, habits, and attitudes.

Cardiovascular magnetic resonance in patients with mitral valve prolapse.

With a prevalence of 2-3% in the general population, mitral valve prolapse (MVP) is the most common valvular heart disease. The clinical course is benign in the majority of patients, although severe mitral regurgitation, heart failure, and sudden cardiac death affect a non-negligible subset of patients. Imaging of MVP was confined to echocardiography until a few years ago when it became apparent that cardiovascular magnetic resonance (CMR) could offer comparative advantages for detecting and quantifying mitral valve abnormalities alongside tissue myocardial characterization.

I-dOne: A diagnostic tool in the field of identification of clinically relevant microbial strains.

This study evaluates the performance of I-dOne, the first CE-IVD marked software for microbial species identification based on Attenuated Total Reflection Fourier Transform Infrared Spectroscopy (ATR-FTIR) and compares its results with MALDI-TOF MS technology (Vitek MS, bioMérieux). A total of 410 clinical isolates were analyzed, spanning 45 species and 24 genera. I-dOne demonstrated a high agreement rate (97.

Determination of new biomarkers for diagnosis of pyridoxine dependent epilepsy in human plasma and urine by liquid chromatography-mass spectrometry.

Background: Pyridoxine-dependent epilepsy (PDE) is a rare inborn error of lysine metabolism. To date, diagnosis of PDE relies on the quantification of α-AminoAdipic SemiAldehyde (α- AASA), Piperideine-6-Carboxylate (P6C) and Pipecolic acid (PA) in urine or plasma from patients with overt symptoms. However, these biomarkers are not specific, and their biochemical analysis is challenged by their instability and technical limitations.

Suppressing, stimulating and/or inhibiting: the evolving management of HCC patient after liver transplantation.

Liver transplantation (LT) is a curative strategy for hepatocellular carcinoma (HCC), but the risk of HCC recurrence remains a challenging problem. In patients with HCC recurrence after LT (HCC-R_LT), the locoregional and surgical approaches are complex, and the guidelines do not report evidence-based strategies for the management of immunosuppression. In recent years, immunotherapy has become an effective option for patients with advanced HCC in pre-transplant settings.

Specialist training in infectious diseases in Europe.

Objectives: The objectives were to determine the structure of training programmes and assessment of physicians training to become infectious disease (ID) specialists in Europe in early 2024, and to document the provision of specialists, trainees and training centres in each country.

Methods: Delegates to the ID Section and Board of the European Union of Medical Specialists (UEMS) entered national data on a web-based survey tool in late 2023-early 2024. Results were compared to UEMS recommendations on the structure and content of postgraduate training in ID in Europe (2018), and to results of a similar survey in early 2021.

Mortality predictors and definition proposal for complicated coagulase-negative Staphylococcus bacteremia. A multicenter prospective cohort study.

Objective: To explore a definition for complicated coagulase-negative staphylococci bloodstream infections (CoNS BSI), and to identify predictors for mortality.

Methods: Prospective cohort study conducted from October 2016 to March 2017 in 26 Spanish hospitals. Complicated CoNS BSI criteria included lack of early catheter removal in catheter-related cases, foreign indwelling implant, persistent bacteremia, fever ≥72 hours on active therapy, metastatic infection or deep-seated focus and infective endocarditis.

Training and temporally validating an NTCP model of acute toxicity after whole breast radiotherapy, including the impact of advanced delivery techniques.

Purpose: The aim is to train and validate a multivariable Normal Tissue Complication Probability (NTCP) model predicting acute skin reactions in patients with breast cancer receiving adjuvant Radiotherapy (RT).

Methods And Materials: We retrospectively reviewed 1570 single-institute patients with breast cancer treated with whole breast irradiation (40 Gy/15fr). The patients were divided into training (n = 878, treated with 3d-CRT, from 2009 to 2017) and validation cohorts (n = 692, treated from 2017 to 2021, including advanced RT techniques).

Practical application of multimodality imaging for cardio-oncology in Latin America.

Latin America (LA) is one of the regions in the world with the highest levels of overweight, dyslipidemia, and diabetes mellitus, which, together with smoking and high blood pressure, are common risk factors for cardiovascular and oncological diseases. Chemotherapy (CT) and Radiotherapy (RT) have become two of the mainstays of treatment for several types of cancer. One of the most worrisome side effects generated by CT and RT is cardiotoxicity.

MLH1 gene promoter methylation status partially overlaps with CpG methylator phenotype (CIMP) in colorectal adenocarcinoma.

Background: RAS/BRAF mutations, mismatch DNA repair complex deficiency (MMRd)/microsatellite instability (MSI), and CpG methylator phenotype (CIMP) are key molecular actors in colorectal carcinogenesis. To date, conflicting evidence about the correlations between these molecular features has been reported.

Materials And Methods: A retrospectively selected cohort of 123 CRCs was divided into 3 groups based on the molecular characteristics: MMR proficient (MMRp)/BRAF p.

Explainable machine learning on clinical features to predict and differentiate Alzheimer's progression by sex: Toward a clinician-tailored web interface.

Alzheimer's disease (AD), the most common neurodegenerative disorder world-wide, presents sex-specific differences in its manifestation and progression, necessitating personalized diagnostic approaches. Current procedures are often costly and invasive, lacking consideration of sex-based differences. This study introduces an explainable machine learning (ML) system to predict and differentiate the progression of AD based on sex, using non-invasive, easily collectible predictors such as neuropsychological test scores and sociodemographic data, enabling its application in every day clinical settings.

Simplifying coronary artery disease risk stratification: development and validation of a questionnaire-based alternative comparable to clinical risk tools.

Background: Coronary artery disease (CAD) comprises one of the leading causes of morbidity and mortality both in the European population and globally. All established clinical risk stratification scores and models require blood lipids and physical measurements. The latest reports of the European Commission suggest that attracting health professionals to collect these data can be challenging, both from a logistic and cost perspective, which limits the usefulness of established models and makes them unsuitable for population-wide screening in resource-limited settings, i.