High Expression of SMN circ4-2b-3 in SMA I Children Treated with Nusinersen is Associated with Improved Motor Outcomes.

Spinal muscular atrophy (SMA) is a neuromuscular disorder resulting in the loss of α-motor neurons. Nusinersen is an antisense oligonucleotide administered intrathecally to SMA patients that corrects the splicing defect of SMN2. Not all SMA patients respond equally to the therapy and work is in progress to identify biomarkers that may help stratify to SMA patients.

Preoperative prediction of post hepatectomy liver failure after surgery for hepatocellular carcinoma on CT-scan by machine learning and radiomics analyses.

Introduction: No instruments are available to predict preoperatively the risk of posthepatectomy liver failure (PHLF) in HCC patients. The aim was to predict the occurrence of PHLF preoperatively by radiomics and clinical data through machine-learning algorithms.

Materials And Methods: Clinical data and 3-phases CT scans were retrospectively collected among 13 Italian centres between 2008 and 2022.

Germline reflex BRCA1/2 testing following tumor-only comprehensive genomic profiling: why, when, and how.

The majority of tumor comprehensive genomic profiling (CGP) currently does not include a matched normal control. The use of a tumor-only CGP approach needs the development of a strategy to refine germline pathogenic/likely pathogenic variants (gP/LPVs) calls, so as to limit the performance of unnecessary germline reflex tests and instead successfully identify patients who are carriers of likely gP/LPVs. Guidelines have been developed for the identification of gP/LPVs in BRCA1/2 genes on the basis of tumor-only CGP results and for the evaluation of the appropriateness of performing germline reflex BRCA1/2 testing.

Assessment of Cardiopulmonary Resuscitation Quality among Healthcare Providers: A Randomized Experimental Study of the Italian Resuscitation Council.

The quality of cardiopulmonary resuscitation (CPR) is pivotal in improving the outcome of cardiac arrest. Nevertheless, there is evidence that even professional rescuers may deliver ineffective chest compressions (CCs). We sought to evaluate the impact of a CPR feedback device on the quality of CC performed by a supposedly highly trained and skilled population of attendees to the national annual congress of the Italian Resuscitation Council.

Clinical Outcomes of CAD-CAM Subperiosteal Implants for the Rehabilitation of Atrophic Jaws.

Thanks to the use of new digital technologies and innovations in materials, there has been an increasing interest in subperiosteal implants. These implants are considered to be helpful for the rehabilitation of severe jaw atrophies, as they overcome some disadvantages of endosseous implantology. In the present clinical retrospective study, 18 patients were treated and the clinical outcomes of the treatment were recorded after 12 months of follow-up.

Clinical and laboratory predictors of mpox severity and duration: an Italian multicentre cohort study (mpox-Icona).

Background: Severe and prolonged mpox courses have been described during the 2022-2023 outbreak. Identifying predictors of severe evolution is crucial for improving management and therapeutic strategies. We explored the predictors of mpox severity and tested the association between mpox severity and viral load in biological fluids.

Single large hepatocellular carcinoma > 5 cm with surgical indication: is it mandatory a major hepatectomy? a propensity-score weighted analysis.

Purpose: Single large hepatocellular carcinoma >5cm (SLHCC) traditionally requires a major liver resection. Minor resections are often performed with the goal to reduce morbidity and mortality. Aim of the study was to establish if a major resection should be considered the best treatment for SLHCC or a more limited resection should be preferred.

Sodium-glucose cotransporter 2 inhibitors and the cancer patient: from diabetes to cardioprotection and beyond.

Sodium-glucose cotransporter 2 inhibitors (SGLT2i), a new drug class initially designed and approved for treatment of diabetes mellitus, have been shown to exert pleiotropic metabolic and direct cardioprotective and nephroprotective effects that extend beyond their glucose-lowering action. These properties prompted their use in two frequently intertwined conditions, heart failure and chronic kidney disease. Their unique mechanism of action makes SGLT2i an attractive option also to lower the rate of cardiac events and improve overall survival of oncological patients with preexisting cardiovascular risk and/or candidate to receive cardiotoxic therapies.

OPTImal PHARMacological therapy for patients with heart failure: Rationale and design of the OPTIPHARM-HF registry.

Aims: Patients with heart failure (HF) remain often undertreated for multiple reasons, including treatment inertia, contraindications, and intolerance. The OPTIimal PHARMacological therapy for patients with Heart Failure (OPTIPHARM-HF) registry is designed to evaluate the prevalence of evidence-based medical treatment prescription and titration, as well as the causes of its underuse, in a broad real-world population of consecutive patients with HF across the whole ejection fraction spectrum and among different clinical phenotypes.

Methods: The OPTIPHARM-HF registry (NCT06192524) is a prospective, multicenter, observational, national study of adult patients with symptomatic HF, as defined by current international guidelines, regardless of ejection fraction.

2024 ASCO genitourinary cancers symposium: a focus on renal cell carcinoma.

In this article, we report the breakthrough acquisitions for renal cell carcinoma (RCC) management presented at the 2024 American Society of Clinical Oncology (ASCO) Genitourinary Cancers Symposium. The results from Keynote 564 showed an impressive overall survival (OS) advantage for pembrolizumab, in patients at higher risk of relapse after surgery and confirmed the benefit in terms of disease-free survival (DFS). Until now, pembrolizumab is the only immune checkpoint inhibitor (ICI) to prove a survival advantage.