Predictive Value of the DETECT Algorithm for Pulmonary Arterial Hypertension in Systemic Sclerosis: Findings from an Italian Observational Study.

Pulmonary arterial hypertension (PAH) is a complication of systemic sclerosis (SSc), and several screening algorithms have been proposed for the early detection of PAH in SSc. This study aimed to evaluate the predicting values of the DETECT algorithm for SSc-PAH screening in patients with SSc undergoing right heart catheterization (RHC) based on 2015 ESC/ERS echocardiographic criteria in a real-life setting. Patients fulfilling the 2013 ACR/EULAR classification criteria for SSc and with available data for PAH screening with the DETECT algorithm and the 2015 ESC/ERS echocardiographic criteria were retrospectively enrolled from January to June 2017 and then followed for 5 years.

Long-Term Clinical Impact of Paravalvular Leak Following Transcatheter Aortic Valve Implantation.

Paravalvular leak (PVL) was initially recognized as one of the most common complications after transcatheter aortic valve implantation (TAVI) and has been linked to adverse clinical outcomes, including mortality. This study aims to assess the long-term clinical effects of PVL in patients undergoing TAVI with the latest generation of transcatheter aortic valves, as part of the national observational prospective multicenter study OBSERVANT II. OBSERVANT II included all consecutive patients with severe aortic stenosis who underwent TAVI across 28 Italian centers from December 2016 to September 2018.

Combining Advanced Targeted Therapy in Inflammatory Bowel Disease: Current Practice and Future Directions.

Despite the increasing number of available medications, a significant proportion of IBD patients fail to achieve the current therapeutic targets. Uncontrolled IBD has a significant impact on patients' quality of life and on overall costs for the healthcare system. Given the complex pathophysiology of IBD, Combined Advanced Targeted Therapy (CATT), involving the combination of biologics/small molecules, appears to have biological plausibility and is gaining increasing interest.

Emotional and Behavioural Adjustment in Children and Adolescents with Short Stature vs. Their Normal-Statured Peers.

: the aim of the current cross-sectional study is to explore and compare the emotional and behavioural conditions of children and adolescents with short stature (i.e., familial short stature and constitutional delay of growth), idiopathic growth hormone deficiency (GHD), and normal height.

Diagnostic Algorithm Using Multimodal Imaging for the Differential Diagnosis of Intra-Cardiac Masses.

Cardiac masses are complex clinical conditions that frequently pose diagnostic challenges in cardiology practice. These masses can form within heart chambers or near the pericardium and are generally categorized as either non-neoplastic or neoplastic. These latter are further classified into benign and malignant (primary and secondary or metastatic).

Therapeutic Inertia in Dyslipidemia Management for Secondary Cardiovascular Prevention: Results from the Italian ITACARE-P Network.

This study assessed the proportion of secondary cardiovascular prevention patients who achieved low-density lipoprotein (LDL) cholesterol targets as per the 2019 ESC/EAS Dyslipidemia Guidelines. We also evaluated whether lipid-lowering therapies (LLTs) were adjusted in patients not meeting targets and analyzed the likelihood of these modifications achieving recommended levels. A multicenter, cross-sectional observational study retrospectively reviewed medical records of 1909 outpatients in 9 Italian cardiac rehabilitation/secondary prevention clinics from January 2023 to June 2024.

Supra-Normal Ejection Fraction at Hospital Admission Stratifies Mortality Risk in HFpEF Patients Aged ≥ 70 Years.

During the last few years, significant pathophysiological differences between heart failure (HF) patients with "normal" ejection fraction (EF) (50% to 64%) and those with supra-normal EF (≥65%) have been highlighted. However, these distinct EF phenotypes have been poorly investigated in elderly patients aged ≥70 y. Accordingly, the present study aimed at assessing the clinical and echocardiographic characteristics of a retrospective cohort of elderly HFpEF patients (aged ≥ 70 y), categorized on the basis of "normal" EF (50 to 64%) or "supra-normal" EF (≥65%).

Managing Retinitis Pigmentosa: A Literature Review of Current Non-Surgical Approaches.

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases characterized by the progressive loss of photoreceptor function, visual impairment, and, ultimately, blindness. While gene therapy has emerged as a promising therapy, it is currently available only for the RPE65 gene mutation, leaving many patients without targeted genetic treatments. Non-surgical interventions may help in managing the progression of RP and improving patients' quality of life.

Characterization and Otoprotective Effects of Polysaccharides from .

Hearing loss is one of the most common sensory disorders in humans, and a large number of cases are due to ear cell damage caused by ototoxic drugs including anticancer agents, such as cisplatin. The recent literature reported that hearing loss is promoted by an excessive generation of reactive oxygen species (ROS) in cochlea cells, which causes oxidative stress. Recently, polysaccharides from the cyanobacterium showed many biological activities, including antioxidant activity, suggesting their potential use to combat hearing loss.

Sarcopenia as a Predictor of Mortality in a Cohort of Elderly Patients Undergoing Endoscopic Retrograde Cholangiopancreatography.

Background And Aims: Despite technical advances, endoscopic retrograde cholangiopancreatography (ERCP) is associated with complications and potentially lethal outcomes. Sarcopenia, a complex syndrome mainly associated with aging, has been recognized as a predictor of poor surgical outcomes. Thus far, the impact of sarcopenia on ERCP remains unknown.

De Novo Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.

Pathogenic variants in , encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks, characterized by elongated/spaghetti-like, highly interconnected mitochondria. We validated in yeast the pathogenicity of a de novo variant identified by whole exome sequencing performed more than 10 years after the patient's death.

Regeneration of Vascular Endothelium in Different Large Vessels.

The regeneration of endothelial cells (ECs) lining arteries, veins, and large lymphatic vessels plays an important role in vascular pathology. To understand the mechanisms of atherogenesis, it is important to determine what happens during endothelial regeneration. A comparison of these processes in the above-mentioned vessels reveals both similarities and some significant differences.

Targeting Bacterial Cell Division with Benzodioxane-Benzamide FtsZ Inhibitors as a Novel Strategy to Fight Gram-Positive Ovococcal Pathogens.

The widespread emergence of antimicrobial resistance (AMR) is a serious threat to global public health and among Gram-positive cocci, constitutes a priority in the list of AMR-threatening pathogens. To counteract this fundamental problem, the bacterial cell division cycle and the crucial proteins involved in this process emerged as novel attractive targets. FtsZ is an essential cell division protein, and FtsZ inhibitors, especially the benzamide derivatives, have been exploited in the last decade.

Irisin and Metastatic Melanoma: Selective Anti-Invasiveness Activity in BRAF Wild-Type Cells.

Irisin is a newly discovered 12 kDa messenger protein involved in energy metabolism. Irisin affects signaling pathways in several types of cancer; however, the role of irisin in metastatic melanoma (MM) has not been described yet. We explored the biological effects of irisin in in vitro models of MM cells (HBL, LND1, Hmel1 and M3) capable of the oncogenic activation of BRAF.

Onvansertib and Navitoclax Combination as a New Therapeutic Option for Mucinous Ovarian Carcinoma.

Mucinous epithelial ovarian cancer (mEOC) is a rare subtype of epithelial ovarian cancer, characterized by poor responses to standard platinum-based chemotherapy. Polo-like kinase 1 (PLK1) is a key regulator of mitosis and cell cycle progression and its inhibition has been recently identified as a target in mEOC. In this study, we aimed to identify further therapeutic targets in mEOC using a CRISPR/Cas9 library targeting 3015 genes, with and without treatment with onvansertib, a PLK1 inhibitor.

Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.

Anderson-Fabry disease is a hereditary, progressive, multisystemic lysosomal storage disorder caused by a functional deficiency of the enzyme α-galactosidase A (α-GalA). This defect is due to mutations in the gene, located in the long arm of the X chromosome (Xq21-22). Functional deficiency of the α-GalA enzyme leads to reduced degradation and accumulation of its substrates, predominantly globotriaosylceramide (Gb3), which accumulate in the lysosomes of numerous cell types, giving rise to the symptomatology.

The Role of Butirprost as an Adjuvant in Enhancing the Effect of Antibiotics in Patients Affected by Chronic Bacterial Prostatitis: A Randomized Prospective Trial.

Bacterial prostatitis (BP) is a common prostatic infection characterized by pain and urinary symptoms, often with negative bacterial cultures from prostatic secretions. It affects young and older men bimodally and impacts quality of life (QoL) significantly. : Treatment typically involves antibiotics, but a multimodal approach with additional nutraceuticals may enhance outcomes.

Health Risk Factors, Prevention, and Inequalities.

The powerful quote from Martin Luther King Jr [...

Is the Use of Tourniquets More Advantageous than Other Bleeding Control Techniques in Patients with Limb Hemorrhage? A Systematic Review and Meta-Analysis.

Trauma, particularly uncontrolled bleeding, is a major cause of death. Recent evidence-based guidelines recommend the use of a tourniquet when life-threating limb bleeding cannot be controlled with direct pressure. Prehospital hemorrhage management, according to the XABCDE protocol, emphasizes the critical role of tourniquets in controlling massive bleeding.

Tracheostomy Practice in the Italian Intensive Care Units: A Point-Prevalence Survey.

: A tracheostomy is a frequently performed surgical intervention in intensive care units (ICUs) for patients requiring prolonged mechanical ventilation. This procedure can offer significant benefits, including reduced sedation requirements, improved patient comfort, and enhanced airway management. However, it is also associated with various risks, and the absence of standardized clinical guidelines complicates its implementation.

Midline Anterior Neck Inclusion Cyst in a Pediatric Patient: A Case Report and Literature Review with a Dermatologic Perspective.

Midline Anterior Neck Inclusion Cysts (MANICs) are rare congenital anomalies caused by improper embryonic fusion. These superficial benign lesions typically appear yellowish and cystic without deeper anatomic connections. We describe an 11-month-old boy with a stable, asymptomatic, yellow, elastic cystic lesion on the midline of the anterior neck, measuring 4 mm and present since shortly after birth.

Serum Lipids Alterations in Patients Under Systemic JAK Inhibitors Treatments in Dermatology: Clinical Aspects and Management.

: Janus kinase inhibitors (JAKi) have significantly advanced the treatment of various dermatological conditions by modulating the JAK-STAT signalling pathway. While these inhibitors have proven effective, they also pose challenges due to associated increase in serum lipid levels and relative potential cardiovascular risks. This perspective work aims to discuss the implications of these lipid alterations proposing management strategies for patients with dermatological disorders under JAKi treatments.

De Novo Assembly of the Polyhydroxybutyrate (PHB) Producer Strain H1 Genome and Genomic Analysis of PHB Production Machinery.

Polyhydroxybutyrate (PHB) is a biodegradable natural polymer produced by different prokaryotes as a valuable carbon and energy storage compound. Its biosynthesis pathway requires the sole expression of the operon, although auxiliary genes play a role in controlling polymer accumulation, degradation, granule formation and stabilization. Due to its biodegradability, PHB is currently regarded as a promising alternative to synthetic plastics for industrial/biotechnological applications.

Prevalence of Hepatitis C Virus Among Hospitalized Patients in a Tertiary Hospital in Italy: The Basis for a National Screening Assessment Model?

Free-of-charge hepatitis C virus antibody (HCV Ab) screening in some key populations and in 1969-1989 birth cohorts have been funded in Italy as the first step in confirming diagnosis in individuals who may be unaware of their infection. The purpose of this study is to leverage existing in-hospital routine screening data to better understand the distribution of HCV. A retrospective study of hospitalized patients (PTs) tested for HCV Ab for 5 years (from January 2017 to December 2022) in San Raffaele hospital was conducted according to age categories: birth year group before 1947 (patients older than 76 years old), birth year group 1947-1968, birth year group 1969-1989, and two other groups with birth year groups 1990-2000 and 2001-2022 (with patients younger than 33 years old) using the TriNetX platform.

Hereditary Breast Cancer: Comprehensive Risk Assessment and Prevention Strategies.

Women carrying pathogenic/likely pathogenic (P/LP) variants in moderate- or high-penetrance genes have an increased risk of developing breast cancer. However, most P/LP variants associated with breast cancer risk show incomplete penetrance. Age, gender, family history, polygenic risk, lifestyle, reproductive, hormonal, and environmental factors can affect the expressivity and penetrance of the disease.