Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.

Background: the protein phosphatase 3 catalytic subunit alpha (PPP3CA) gene encodes for the alpha isoform of the calcineurin catalytic subunit, which controls the phosphorylation status of many targets. Currently, 23 pathogenic variants of PPP3CA are known, with clinical manifestations varying by mutation type and domain.

Results: through whole exome sequencing, we found two de novo variants in PPP3CA: a frameshift variant predicted leading to a truncated protein in Pt.

State of the art of CT myocardial perfusion.

Coronary computed tomography angiography (CCTA) is a powerful tool to rule out coronary artery disease (CAD). In the last decade, myocardial perfusion CT (CTP) technique has been developed for the evaluation of myocardial ischemia, thereby increasing positive predictive value for diagnosis of obstructive CAD. A diagnostic strategy combining CCTA and perfusion acquisitions provides both anatomical coronary evaluation and functional evaluation of the stenosis, increasing the specificity and the positive predictive value of cardiac CT.

Comparing survival and outcomes in isolated versus polytrauma-associated TBI: a retrospective cohort study.

Background: One in four patients with moderate to severe traumatic brain injury (TBI) also has other body district injuries (OBD). The impact of OBD on mortality and disability is debated. This study compared outcomes of TBI patients with polytrauma (p-TBI) versus isolated TBI (alone-TBI) and identified outcome determinants, focusing on survival time and prognosis.

Seasonal patterns of myositis-specific and myositis-associated autoantibodies in Italy: Seasonal patterns of myositis autoantibodies.

Objective: Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of systemic autoimmune disorders affecting skeletal muscles but also other organs. There are different forms of IIM, each with peculiar clinical manifestations and prognosis. Accordingly, several autoantibodies have been described in IIM, with different prevalence in the different forms of the disease.

Effect of sacubitril/valsartan in heart failure with preserved ejection fraction across the age spectrum in PARAGON-HF.

Aims: To evaluate clinical outcomes, echocardiographic features, and the efficacy and safety of sacubitril/valsartan compared to valsartan across age groups in the PARAGON-HF trial.

Methods And Results: A total of 4796 participants ≥50 years of age with chronic heart failure (HF) and left ventricular ejection fraction (LVEF) ≥45% were divided into three age groups: <65 years (n = 825), 65-74 years (n = 1772), and ≥75 years (n = 2199). Echocardiograms of 1097 patients were analysed in a standardized fashion at a core imaging laboratory.

Finerenone, Obesity, and Heart Failure With Mildly Reduced/Preserved Ejection Fraction: Prespecified Analysis of FINEARTS-HF.

Background: Obesity is associated with excessive adipocyte-derived aldosterone secretion, independent of the classical renin-angiotensin-aldosterone cascade, and mineralocorticoid receptor antagonists may be more effective in patients with heart failure (HF) and obesity.

Objectives: This study sought to examine the effects of the nonsteroidal mineralocorticoid receptor antagonist finerenone compared with placebo, according to body mass index (BMI) in FINEARTS-HF (FINerenone trial to investigate Efficacy and sAfety superioR to placebo in paTientS with Heart Failure).

Methods: A total of 6,001 patients with HF with NYHA functional class II, III, and IV, a left ventricular ejection fraction of ≥40%, evidence of structural heart disease, and elevated natriuretic peptide levels were randomized to finerenone or placebo.

Overall impact of tethering and of its symmetric and asymmetric subtypes on early and long-term outcome of transcatheter edge-to-edge repair of significant mitral valve regurgitation.

Background: Tethering is a common condition of the mitral valve apparatus in the presence of significant regurgitation. Its impact on outcomes of transcatheter edge-to-edge repair (TEER) remains poorly characterized.

Methods: We appraised the prevalence, features, procedural details, and outcomes of patients with or without mitral valve tethering in a prospective multicenter observational study.

Coma and confirmed epileptiform activity induced by Amanita pantherina poisoning.

Amanita pantherina poisoning is a rare event poorly described. The clinical picture is usually associated with the one of A. muscaria, but A.

Performance of the T-SPOT.TB test in patients with indeterminate QuantiFERON-TB Gold Plus results: proposal for an algorithm for the diagnosis of Latent Tuberculosis Infection.

Latent Tuberculosis Infection (LTBI) is a state of persistent immune response to complex antigens without clinical, radiological and microbiological signs of active disease. Effective diagnosis and preventive treatment of LTBI are crucial for tuberculosis (TB) control, especially in high-risk groups. Currently, two main tests are used for LTBI diagnosis: the Tuberculin Skin Test (TST) and the Interferon-Gamma Release Assays (IGRA), including the QuantiFERON-TB Gold Plus (QFT-Plus) and the T-SPOT.

Serum uric acid, renal function and prognosis in patients with chronic heart failure and reduced ejection fraction. Insights from the Italian Network on Heart Failure.

Background: The role of hyperuricemia on short-term clinical prognosis in outpatients with heart failure and reduced ejection fraction (HFrEF) has few investigations and inconclusive results. We evaluated the prognostic impact of serum uric acid (SUA) on short-term clinical outcome among ambulatory patients with chronic HFrEF enrolled in a nationwide cardiology registry, stratified by the presence of chronic renal dysfunction (CKD).

Methods: 2246 outpatients with LVEF ≤40 %, vital status at 1-year follow-up known, and with SUA and creatinine available were stratified accordingly to SUA tertiles (≤5.

Introduction of a LAT gel and low-dose midazolam sedo-analgesia protocol for pediatric skin suture in the emergency department: simpler is better.

Background: skin lacerations are one of the main causes of children's referral to the emergency department (ED). We introduced in our general ED a pediatric sedo-analgesia protocol (SAP) for suturing skin wounds using LAT gel, a local anesthetic solution of lidocaine, adrenaline and tetracaine, with or without low-dose oral midazolam according to patient's age, to improve the experience of laceration repair.

Methods: Primary outcomes were improvement of suturing experience for ED operators (as a reduction in the desire to avoid the procedure) and of the adequacy of sedo-analgesia provided, investigated through two different surveys administered to the ED staff before and after the introduction of the SAP.

Effect of alemtuzumab on fatigue, quality of life, and patient/caregiver-reported outcomes in relapsing-remitting multiple sclerosis-A real-world evidence study.

Background: Alemtuzumab is approved in the European Union for treating highly active relapsing-remitting multiple sclerosis (RRMS). Patient-reported outcomes measure the treatment impact on quality of life (QoL), including fatigue, a common symptom in multiple sclerosis (MS). Chronic diseases like MS also affect the patient's caregiver.

Dynamic CRRT Prescription for Complicated Critically Ill Patient: A Case Report.

Continuous renal replacement therapies (CRRTs) and sequential extracorporeal blood purification (EBP) therapies can be used in patients with severe COVID-19 disease to support kidney failure and restore immune homeostasis. EBP prescription should be based on the patient's clinical needs and frequently re-evaluated during the intensive care unit (ICU) stay. Personalization of treatment at the bedside plays a fundamental role for patient recovery.

Percutaneous management of chronic total occlusion of the portal vein: a retrospective analysis of technical aspects and outcomes.

Background: Chronic total occlusion (CTO) of the portal vein is one of the main causes of portal hypertension, which may result in life-threatening complications often managed by interventional radiology (IR). The aim of this study is to report the innovative experience with percutaneous revascularization therapy in the management of portal vein CTO in paediatric and adult patients.

Materials And Methods: From January 2020 to December 2023 consecutive paediatric and adult patients with severe portal hypertension resulting from portal vein CTO who underwent attempts at percutaneous recanalization were retrospectively reviewed.

Angiotensin Receptor Neprilysin Inhibition and Cardiovascular Outcomes Across the Kidney Function Spectrum: The PARAGON-HF Trial.

Background: Lower estimated glomerular filtration rate (eGFR) may be one of the major reasons for hesitation or failure to initiate potentially beneficial therapies in patients with heart failure (HF).

Objectives: This study sought to assess if the effects of sacubitril/valsartan (vs valsartan) on cardiovascular outcomes differ according to baseline kidney function in patients with HF with preserved ejection fraction.

Methods: The PARAGON-HF (Prospective Comparison of ARNI with ARB Global Outcomes in HF with Preserved Ejection Fraction) trial was global clinical trial of 4,796 patients with chronic HF and left ventricular ejection fraction (LVEF) ≥45% randomly assigned to sacubitril/valsartan or valsartan.

The management of pilon fractures: An expert survey of AO trauma Italy members and evidence-based treatment recommendations.

Operative decision-making of tibial pilon fractures is still of great complexity. The AO Trauma Italy has investigated the trend in the management of this fractures among orthopedic surgeons in Italy. A literature-based survey focused on preoperative planning and surgical strategies has been submitted to all the participants and the results were discussed in an online webinar in light of the most recent literature with the aim to outline common treatment recommendations especially useful for young surgeons.

Finerenone and Kidney Outcomes in Patients with Heart Failure: The FINEARTS-HF Trial.

Background: Finerenone has kidney protective effects in patients with chronic kidney disease (CKD) with type 2 diabetes, but effects on kidney outcomes in patients with heart failure (HF) with and without diabetes and/or CKD are not known.

Objectives: Examine the effects of finerenone on kidney outcomes in FINEARTS-HF, a randomized trial of finerenone vs. placebo among patients with HF with mildly reduced or preserved ejection fraction.

Vericiguat Global Study in Participants with Chronic Heart Failure: Design of the VICTOR trial.

Aims: In the VICTORIA (Vericiguat Global Study in Subjects with Heart Failure with Reduced Ejection Fraction) trial, the soluble guanylate cyclase stimulator vericiguat reduced the risk of hospitalization for heart failure (HHF) or cardiovascular death in patients with heart failure (HF) and reduced ejection fraction (HFrEF) with recent worsening HF. The effect of vericiguat in patients with HFrEF without recent worsening HF remains unknown. The VICTOR (Vericiguat Global Study in Participants with Chronic Heart Failure) trial was designed to assess the efficacy and safety of vericiguat in patients with ejection fraction ≤40% without recent worsening HF on a background of current foundational HFrEF therapy.