A clinical and genotype-phenotype analysis of MACF1 variants.

Microtubule-actin cross-linking factor 1 (MACF1) is a large protein of the spectraplakin family, which is essential for brain development. MACF1 interacts with microtubules through the growth arrest-specific 2 (Gas2)-related (GAR) domain. Heterozygous MACF1 missense variants affecting the zinc-binding residues in this domain result in a distinctive cortical and brain stem malformation.

Adipose Tissue in and Around the Heart: Structural and Functional Insights From Cardiac Magnetic Resonance.

Cardiac adipose tissue is normally present in the epicardium, but a variable amount can also be present in the myocardium, particularly in the subepicardial regions of the right ventricular anterolateral and apical regions. Pathological adipose tissue changes may occur in both ischemic (previous myocardial infarction) and nonischemic (previous myocarditis, arrhythmogenic cardiomyopathy, lipomatous hypertrophy of the interatrial septum, cardiac lipomas and liposarcomas) conditions, with or without extensive replacement-type myocardial fibrosis. Cardiac magnetic resonance is the gold standard imaging technique to characterize myocardial tissue changes and to distinguish between physiological and pathological cardiac fat deposits.

ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation.

Adenylosuccinate lyase deficiency (ADSLd) is a rare autosomal recessive purine metabolism disorder with several clinical manifestations. While toxic substrate accumulation is a known hallmark, no additional molecular mechanisms have been established. Here, we show that ADSLd is associated with mitochondrial dysfunction, including increased fragmentation, impaired respiration, and reduced ATP production.

Clinical presentation and echocardiographic characteristics of women with peripartum cardiomyopathy: Insights from the Italian Multicentre Registry.

Background: Peripartum cardiomyopathy (PPCM) is a rare, life-threatening form of heart failure occurring in late pregnancy or postpartum, with variable clinical course and outcomes. We report preliminary clinical and echocardiographic findings from a national Italian registry of PPCM patients METHODS: The study was approved by the institutional Ethics Committee and registered at ClinicalTrials.gov (NCT05878041).

Textbook Outcomes and Minimally Invasive Techniques in Resectable Gallbladder Cancer: A Global Cohort Study.

Introduction: Surgery for resectable gallbladder cancer (GbC) encompasses complex operative management, and evaluating surgical quality through textbook outcome (TO) is crucial. This study aimed to assess TO incidence and impact in a global cohort, identify independent predictors, and evaluate TO rates of minimally invasive (MI) techniques, including robotic (ROB) and laparoscopic (LPS).

Materials And Methods: This cohort study included patients undergoing curative-intent hepatectomy and lymphadenectomy for GbC (T1b-T3) from 2012 to 2023 in 41 hospitals.

Pathophysiology and treatment of exercise-associated hyponatremia.

Exercise associated hyponatremia (EAH) is a medical condition that can occur during physical exertion. Initially, EAH was considered to be restricted to extreme endurance activities, such as ultramarathons and Ironman triathlons. However, it has been more recently recognized in a variety of sports, including team sports and in shorter-duration events.

24-h urine test application in patients with kidney stone disease: a population-based study in a primary care setting.

Background: Kidney stone formation is driven by an imbalance between lithogenic substances and crystallization inhibitors. Current guidelines recommend a 24-h urine collection in patients with kidney stone disease to assess the risk of stone formation and monitor therapy compliance. However, real-world data on adherence to these guidelines remain limited and outdated.

Efficacy of spectacle lenses for myopia control: a meta-analysis of randomised controlled trials.

Purpose: To determine the effects of advanced spectacle lens technologies on changes in spherical equivalent of refraction (SER) and axial length (AL) elongation in slowing down the progression of myopia in children and adolescents, by synthesising data from randomised controlled trials (RCTs).

Methods: A systematic review and meta-analysis was conducted to identify all RCTs up to 27 February 2025 that compared intervention groups with myopia control lenses and control groups with standard single vision lenses (SVLs). Data from eligible studies were extracted into specially-designed data collection forms without changing the original values.

Prognosis of HPV-independent, p53-wild-type vulvar squamous cell carcinoma: A systematic review and meta-analysis.

Background: Vulvar squamous cell carcinoma (VSCC) is subdivided into TP53-mutant (TP53) and HPV-associated (HPV). In recent years, a third group unrelated to TP53 mutation or HPV-association (TP53/HPV) has emerged. However, its prognosis is unclear.

The needs and unmet needs for people living with dementia, caregivers and care workers in dementia health care systems: a systematic review.

Introduction: The prevalence and costs of dementias are rising due to demographic changes. Dementia care depends largely on informal caregivers and fragmented healthcare systems that often fail to meet the needs of people with dementia.

Objectives: This systematic review aims to identify unmet needs and barriers in European dementia care, providing a framework to improve health strategies.

Enhanced recovery and survival after elective surgery for colorectal cancer - propensity score weighting analysis of 2,865 prospective patients.

Background: The impact of enhanced recovery pathway (ERP) on survival after colorectal cancer surgery (CCS) remains controversial.

Materials And Methods: A total of 2865 adults enrolled in a multicenter cohort study (iCral3 study) after CCS were followed up. The percentage adherence to the ERP was recorded, and the patients were grouped according to their quartiles.

Global real-world data on Heart Failure with reduced Ejection Fraction (HFrEF): challenges in optimisation and sex disparities.

Background And Aims: Despite the advancements in the treatment of patients with heart failure with reduced ejection fraction (HFrEF), clinical inertia regarding the prescription of the four classes of guidelines-directed medical therapies (GDMT) remains prevalent. This study aims to assess how adherence and time of prescription to GDMT in HFrEF impact mortality. Additionally, it seeks to evaluate sex differences in prescription, and outcome.

The current landscape of single-port robotic surgery in urology.

The advent of the purpose-built da Vinci single-port robotic platform marks a pivotal advancement in minimally invasive urological surgery. Designed to overcome the ergonomic and technical limitations of prior single-site approaches, the single-port system enables complex procedures through a single incision, with enhanced dexterity, optimized use of confined spaces and improved cosmetic and peri-operative outcomes. The single-port system has been increasingly used across a wide range of urological indications, including robot-assisted radical prostatectomy, partial nephrectomy, nephroureterectomy and reconstructive surgeries such as pyeloplasty and ureteral re-implantation.

Biliary and respiratory complications after right hepatectomy for hepatocellular carcinoma following selective internal radiation therapy (SIRT): a retrospective case-control study.

Background: Selective internal radiation therapy (SIRT) has emerged as a promising and recent treatment for downstaging hepatocellular carcinoma (HCC) before surgical intervention. However, the potential occurrence of postoperative biliary and respiratory complications following major hepatectomy subsequent to SIRT remains unclear. We hypothesized that SIRT can increase the rate of biliary leakage and cause diaphragmatic dysfunction, especially for huge HCC in contact with the diaphragm.

Personalized or Standard Duration of Dual Antiplatelet Therapy after Percutaneous Coronary Intervention: PARTHENOPE Randomized Trial.

Background: Dual antiplatelet therapy (DAPT) is recommended for patients undergoing percutaneous coronary intervention (PCI), although its optimal duration remains uncertain.

Objectives: We performed a randomized trial comparing a personalized duration of DAPT, based on a risk score, for 3-, 6-, or 24-months with a standard duration of DAPT for 12 months after PCI.

Methods: We randomly assigned 2,107 patients undergoing PCI to receive either a personalized or a standard DAPT.

Preanalytical variables and analytes in liquid biopsy approach for brain tumors: A comprehensive review and recommendations from the RANO Group and the Brain Liquid Biopsy Consortium.

This review explores the pivotal role of preanalytical variables in bringing liquid biopsy approaches into the clinic for brain tumors. Preanalytical variables encompass a range of critical issues, from blood sample collection and handling to the impact of tumor heterogeneity and patient-specific factors. These variables introduce challenges such as false positives, false negatives, and variability in the analysis of tumor signals, which can hinder the diagnostic and prognostic utility of liquid biopsies.

ATG conjugation-dependent/independent mechanisms underlie lysosomal stress-induced TFEB regulation.

TFEB, a master regulator of autophagy and lysosomal biogenesis, is activated by several cellular stresses including lysosomal damage, but its underlying mechanism is unclear. TFEB activation during lysosomal damage depends on the ATG conjugation system, which mediates lipidation of ATG8 proteins. Here, we newly identify ATG conjugation-independent TFEB regulation that precedes ATG conjugation-dependent regulation, designated Modes I and II, respectively.

Fatty Acid Profiling of Breast Milk at Different Gestational Ages.

This study aimed to characterize the fatty acid (FA) profile of breast milk (BM) at 7 days (T7) and 1 month postpartum (T30) using gas chromatography-mass spectrometry (GC-MS) and to evaluate associations between maternal diet during pregnancy and BM FA composition. : A prospective observational cohort study was conducted from March 2022 to October 2023, involving mothers grouped by gestational age at delivery (32 weeks, 32-36.6 weeks, and >37 weeks).

Predictive Modeling of Acute Hypertensive Disorders in a Real-World Cohort: Integrating Clinical Predictors and Data-Driven Methods.

: Acute hypertensive disorders, including hypertensive emergencies (HEs) and urgencies (HUs), are a frequent cause of emergency department (ED) visits. Early differentiation between HEs and HUs is essential, as their clinical management and prognostic implications differ substantially. : We retrospectively analyzed patients admitted to an Italian second-level ED between January and June 2022 with systolic blood pressure (SBP) ≥ 180 mmHg and/or diastolic blood pressure(DBP) ≥ 110 mmHg.

Diagnostic Performance of ChatGPT-4o in Analyzing Oral Mucosal Lesions: A Comparative Study with Experts.

this pilot study aimed to evaluate the diagnostic accuracy of ChatGPT-4o in analyzing oral mucosal lesions from clinical images. : a total of 110 clinical images, including 100 pathological lesions and 10 healthy mucosal images, were retrieved from Google Images and analyzed by ChatGPT-4o using a standardized prompt. An expert panel of five clinicians established a reference diagnosis, categorizing lesions as benign or malignant.

Genetic Landscape of Familial Melanoma.

About 10% of all forms of melanoma occur in a familial context and may be due to germline predisposing mutations transmitted as autosomal dominant traits within the affected families. is a highly penetrant gene associated to familial melanomas, being responsible of up to 40% of the cases. Other high, moderate, and low penetrance genes are being discovered, even if their own contribution to melanoma risk is still under debate.

Right Heart Evaluation: A Tough Challenge for Clinicians.

The right heart-pulmonary circulation unit (RH-PCU) constitutes an integrated anatomo-functional system characterized by high-volume blood flow, low intravascular pressure, and minimal pulmonary vascular resistance. The RH-PCU dysfunction is a challenge for clinicians, as it can result from numerous pathological conditions, each with different clinical presentations. The pathophysiological changes underlying the hemodynamic alterations in the pressure and volume affecting the right ventricle can lead the patient to present with the primary symptom: dyspnea.

Impact of Donor Type on Outcomes After Allogeneic Hematopoietic Cell Transplantation in Myelofibrosis: A Study on Behalf of the Chronic Malignancies Working Party of the EBMT.

Selecting the optimal donor is crucial for optimizing results of allogeneic hematopoietic cell transplantation (allo-HCT). We analyzed outcomes based on donor type in 2809 myelofibrosis (MF) patients undergoing first allo-HCT between 2015 and 2021 at EBMT centers. Study outcomes included overall survival (OS), progression-free survival (PFS), relapse, non-relapse mortality (NRM), engraftment, and graft-versus-host disease (GvHD).