Istituti di Ricovero e Cura a Carattere Scientifico

KDM6A loss enhances oxidative phosphorylation uncovering tissue-level convergent evolution

Abstract The tumor suppressor KDM6A / UTX , a histone demethylase and a 2-oxoglutarate-dependent dioxygenase, is frequently lost in many cancer types. We show that KDM6A loss pervasively activates oxidative phosphorylation in several solid tumors, generating a pseudo-hyperoxic en...

Topogram-based anatomical labelling of CT series: anatomy-aware CT data processing using deep learning

Abstract Objectives This study provides a Rapid Analysis and Processing of Image Data (RAPID) framework that combines deep learning-based CT topogram analysis with DICOM spatial geometry to enable reliable anatomical labelling of CT series independent of inconsistent textual meta...

The paracrine Ephrin A4/BMP4 feed-forward loop sustains a tumor–CAF vicious cycle in osteosarcoma

Abstract Background Advanced osteosarcoma (OS) remains a clinical challenge due to its aggressive behavior and poor prognosis. Cancer-associated fibroblasts (CAFs) have been shown to contribute to tumor progression, but the tumor–CAF crosstalk in OS is still poorly defined. Eluci...

Transcriptome Dynamics From Primary Gastric Cancer to Peritoneal Metastases: Translational Insights for Surgical Oncology

BACKGROUND AND AIMS: Peritoneal metastases (PMs) represent the most frequent, clinically challenging dissemination pattern in advanced gastric cancer, especially poorly cohesive (PCGC) subtype, and are associated with poor prognosis. We aimed to characterize the transcriptomic la...

Transcriptomic profile and endothelial changes during differentiation syndrome in acute promyelocytic leukemia

Abstract Acute promyelocytic leukemia (APL) is curable with all-trans retinoic acid (ATRA) and arsenic trioxide (ATO), but differentiation syndrome (DS) remains a potentially life-threatening complication, with poorly understood pathogenesis. We investigated clinical, molecular a...

Beyond Device Safety: Organisational Burden and Quality of Life in Oncology Outpatients with PICCs. A Descriptive Exploratory Study

Background and Objectives: Cancer care is increasingly delivered through outpatient pathways, thereby progressively transferring part of the organisational and practical workload of care to patients and informal caregivers. Although peripherally inserted central catheters (PICCs)...

Towards a deep-learning genomic tool for risk stratification and diagnostic support in sporadic ALS

Abstract Background A variety of common and rare genetic factors have been implicated in the development of amyotrophic lateral sclerosis (ALS), and the evidence is that a genetic component is present in most affected individuals. However, our current understanding of ALS genetic...

Classification of Seasonal Allergic Rhinitis Patients by Prospective Patient‐Recorded Symptoms: The @ IT .2020 Project

BACKGROUND: Seasonal allergic rhinitis (SAR) has been so far classified according to frequency and severity by retrospective information based on the ARIA (Allergic Rhinitis and its Impact on Asthma) classification. Electronic symptom diaries (e-Diaries) are feasible tools to col...

Aflibercept 8 mg for diabetic macular edema and neovascular age-related macular degeneration: an italian expert consensus paper

To provide consensus recommendations on the clinical use of aflibercept 8 mg in managing neovascular age-related macular degeneration (nAMD) and diabetic macular edema (DME) in the real-world setting. A modified Delphi study was undertaken, involving ophthalmologists from special...

Frameworks to identify research gaps, frame research needs, and derive research priorities from evidence syntheses:a scoping review

Objectives To identify and describe frameworks for systematically identifying research gaps from evidence syntheses, framing research needs, and establishing priorities, with emphasis on their use of GRADE (Grading of Recommendations Assessment, Development and Evaluation) certai...

Tryptophan Metabolism in Digestive and Extra-Digestive Diseases: Mechanisms, Clinical Implications, and Therapeutic Perspectives

Tryptophan (Trp) metabolism lies at the intersection of nutrition, gut microbiota, mucosal immunology, and systemic inflammation—processes that play key roles in many gastrointestinal and extraintestinal diseases. Trp is an essential amino acid obtained through dietary intake. Be...

Second ipsilateral locoregional recurrence in patients with hormone receptor-positive, HER2-negative breast cancer: a cohort study

Background Evidence regarding outcomes in patients with hormone receptor (HR)-positive/HER2-negative breast cancer (BC) with a second consecutive ipsilateral locoregional recurrence (LRR) remains limited. Methods Single-center, cohort study including consecutive patients with HR-...

Oropouche virus causes severe congenital disease in embryonic mice

Abstract The recent outbreak of Oropouche virus (OROV) in Latin-America with unprecedented reports of vertical transmission resulting in congenital malformations and fetal death, redefines the threat posed by this arbovirus. We discovered that injection of a low inoculum of the e...

Salivary hormones and adipokines are associated with glycemic control and early renal and cardiometabolic markers in children and young adults with type 1 diabetes

Abstract Purpose Type 1 diabetes (T1D) is recognized as a complex metabolic condition associated with hormonal dysregulation and early complications. This study aimed to evaluate salivary metabolic hormones and adipokines in children and young adults with T1D, and to assess their...

Effect of Aficamten on Cardiac Structure and Function in Patients with Symptomatic Nonobstructive Hypertrophic Cardiomyopathy

BACKGROUND: Aficamten significantly improved both functional capacity and patient-reported health status in patients with symptomatic nonobstructive hypertrophic cardiomyopathy in the phase 3 randomized, placebo-controlled ACACIA-HCM trial (Assessment Comparing Aficamten to Place...

Fatal waterhouse–friderichsen syndrome at autopsy: a systematic review and forensic diagnostic framework

Waterhouse-Friderichsen syndrome (WFS) represents a fulminant septic condition characterized by bilateral adrenal hemorrhage and rapid clinical deterioration. Although classically associated with meningococcal infection, fatal cases occur across multiple infectious etiologies and...

A multidimensionalMuscle quality index in severe bbesity: relationships with ageing, adiposity, and functional performance

Traditional anthropometric indicators such as body mass index (BMI) may inadequately capture functional muscular impairment in obesity. To investigate a multidimensional composite muscle quality index (MQI) integrating relative strength and lower-limb functional power in adults w...

Aficamten for Symptomatic Nonobstructive Hypertrophic Cardiomyopathy

BACKGROUND: Nonobstructive hypertrophic cardiomyopathy (HCM) is a common condition that is associated with substantial morbidity and no proven medical therapy. Whether treatment with aficamten, a cardiac myosin inhibitor, can benefit patients with this condition is unknown. METHO...

Clinical Relevance of Calcifications in Osteosarcoma Lung Metastases: Correlations Among Radiological Patterns, Histological Subtypes, and Chemotherapy Responses

Background/Objectives: Osteosarcoma is a rare malignancy and the most common primary malignant bone tumor. Metastases commonly affect the lungs and are associated with reduced life expectancy. Calcifications can be present within a metastatic nodule at baseline or can appear duri...

Global Efficacy of Aficamten in Nonobstructive Hypertrophic Cardiomyopathy: Results From ACACIA-HCM

BACKGROUND: Nonobstructive hypertrophic cardiomyopathy (nHCM) is associated with significant morbidity with no approved treatment. Aficamten is a cardiac myosin inhibitor targeting excess contractility and diastolic impairment, the predominant mechanism responsible for adverse ou...