Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era.

Background: Activated Phosphoinositide 3-Kinase (PI3K) δ Syndrome (APDS), an inborn error of immunity due to upregulation of the PI3K pathway, leads to recurrent infections and immune dysregulation (lymphoproliferation and autoimmunity).

Methods: Clinical and genetic data of 28 APDS patients from 25 unrelated families were collected from fifteen Italian centers.

Results: Patients were genetically confirmed with APDS-1 (n = 20) or APDS-2 (n = 8), with pathogenic mutations in the PIK3CD or PIK3R1 genes.

Seventeen cases of Mycobacterium marinum infection in Italy: A multicenter retrospective study.

Mycobacterium marinum infection is rare, misrecognized and underdiagnosed but can cause severe clinical pictures, especially if the diagnosis is late and the patient is immunocompromised. Treatment includes long-term antibiotic therapy combined with surgical therapy when necessary. We performed a multicenter retrospective study with data from five Italian hospitals describing the epidemiological, clinical, bacteriological characteristics, and treatment outcome of subjects diagnosed with M.

Amino Acid Infusion for Kidney Protection in Cardiac Surgery Patients with Chronic Kidney Disease: A Secondary Analysis of the PROTECTION Trial.

Background: In the PROTECTION trial, intravenous amino acids (AA) decreased the occurrence of acute kidney injury (AKI) in cardiac surgery patients with cardiopulmonary bypass (CPB). Recruitment of renal functional reserve may be responsible for such protection. However, patients with chronic kidney disease (CKD) have diminished renal functional reserve, and AA may be less protective in such patients.

The Psychoeducational Interventions: a valuable communication tool to support the caregiver of people with dementia.

Background: informal caregivers of people with dementia are at greater risk of developing physical and mental health problems when compared to the general population: they often experience high levels of stress which can lead to a lowered sense of well-being, feelings of being burdened, depression and compromised physical health. The significant beneficial effects of Psychoeducational Interventions on the critical outcomes of caregiver burden and strain were considered sufficient to warrant a recommendation in favour of the intervention. The emergence of the COVID-19 pandemic has significantly increased the use internet-based interventions: this study describes the effectiveness of support program for informal caregivers of people with dementia internet-based and on-site conditions.

Effectiveness of bictegravir/emtricitabine/tenofovir alafenamide (BIC/FTC/TAF) as switch strategy in virologically-suppressed patients: real world data from a monocentric cohort.

Introduction: BIC/FTC/TAF showed efficacy and tolerability in randomized trials as a switch strategy in virologically-suppressed people living with HIV. We evaluated its effectiveness in a real-life setting.

Methods: A retrospective monocentric cohort including 431 virologically-suppressed (HIV-RNA <50 copies/ml) people switching to BIC/FTC/TAF in the period 2018-2022 was evaluated.

Placental and Fetal Metabolic Reprogramming in Pregnancies with Intrauterine Growth Restriction.

The high-altitude hypoxia model demonstrates that insufficiently oxygenated placentas activate compensatory mechanisms to ensure fetal survival, hinging on the transcription factor hypoxia-inducible factor-1. The aim of the present study is to investigate whether and when similar mechanisms are also activated during intrauterine growth restriction (IUGR). A retrospective observational study evaluated a series of umbilical cord blood samples, which provide a realistic representation of the fetal intrauterine status, collected from a cohort of preterm and term neonates, both affected and not affected by IUGR.

Therapeutic Drug Monitoring, Population Pharmacokinetics Models, and External Validation of High-Dose Methotrexate in Pediatric Acute Lymphoblastic Leukemia.

Introduction: High-dose methotrexate (MTX) is used to treat pediatric acute lymphoblastic leukemia (ALL). The drug has a low therapeutic index and a highly interindividual variability in systemic exposure. These characteristics necessitate dose adjustments and therapeutic drug monitoring protocols, while population pharmacokinetic (POP/PK) models may enable more precise drug dosing.

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New Santa Chiara Hospital in Cisanello is under construction as part of Pisa University Hospital (Aoup). The 1000 beds and 5.000 employees Hospital (currently on two distant pavilion facilities) will find in 2026 a unique location in Cisanello, through the expansion of hospital buildings.

Associations Between Polymorphisms of Genes Related to Vitamin D Pathway and the Response to Vedolizumab and Ustekinumab in Inflammatory Bowel Disease.

: Vitamin D (VD) has immunoregulatory properties, generating interest in its potential to influence therapeutic outcomes in inflammatory bowel disease (IBD), other than affecting the expression of genes encoding enzymes and transporters involved in drug metabolism and transport. This study investigated VD-related single nucleotide polymorphisms (SNPs) as predictors of clinical responses in patients with Crohn's disease (CD) and ulcerative colitis (UC) treated with vedolizumab (VDZ) or ustekinumab (UST) after 3 (T3) and 12 months (T12), as well as the achievement of fecal calprotectin (FC) levels < 250 mg/kg, a marker of mucosal healing. : In this prospective study, 103 patients (67 CD, 36 UC) were enrolled, 40 receiving VDZ and 63 receiving UST.

TB Anywhere, TB Everywhere. The First Case of pre-Extensively Drug Resistant Tuberculosis Treated with BPaL in Italy: Challenges and Opportunities for Transborder Collaboration.

Even if in the past years new effective, safe, and orally administrable drugs are available to create shorter regimens, drug-resistant (DR) tuberculosis (TB) treatment remains a critical issue and a major challenge faced by clinicians worldwide. We present the first case of transborder pulmonary pre-extensively drug-resistant (pre-XDR)-TB treated in Italy with the bedaquiline-pretomanid-linezolid regimen. Diagnosis and treatment were started in Ukraine, and, after a month of treatment, due to the Russo-Ukrainian war, the patient moved to Italy, where the diagnosis was confirmed both by genotypic and phenotypic drug susceptibility tests, and treatment continued.

Guidelines at a crossroad: comparing European and American guidelines regarding the use of imaging in peripheral vascular arterial disease and aortic disease.

This review examines the differences and similarities between the European and American guidelines concerning the use of imaging in the diagnosis and management of peripheral arterial disease (PAD) and aortic disease. PAD and aortic conditions contribute significantly to global cardiovascular morbidity and mortality; yet, they are often underdiagnosed and undertreated. Imaging plays a critical role in addressing this gap, with the European Society of Cardiology and American Cardiac Society offering different approaches to diagnostic and interventional imaging modalities.

Convolutional neural networks for automatic MR classification of myocardial iron overload in thalassemia major patients.

Objectives: To develop a deep-learning model for supervised classification of myocardial iron overload (MIO) from magnitude T2* multi-echo MR images.

Materials And Methods: Eight hundred twenty-three cardiac magnitude T2* multi-slice, multi-echo MR images from 496 thalassemia major patients (285 females, 57%), labeled for MIO level (normal: T2* > 20 ms, moderate: 10 ≤ T2* ≤ 20 ms, severe: T2* < 10 ms), were retrospectively studied. Two 2D convolutional neural networks (CNN) developed for multi-slice (MS-HippoNet) and single-slice (SS-HippoNet) analysis were trained using 5-fold cross-validation.

Human placenta in vascular neurosurgery training: a comprehensive review of laboratory models, possible exercises, and assessments for skills improvement.

Introduction: Simulation is increasingly recognized as an important tool to enhance neurosurgical education. In this field, especially in neurovascular surgery, human placenta (hPl) is being recognized as a valuable training model because of its abundant availability, ethical acceptance, and analogous vasculature with other vessels of the human body. Nevertheless, although a rising body of literature is witnessing a renovated interest toward this "old" model, to date no comprehensive reviews on the topics are available.

Proposal of a predictive score for the occurrence of postoperative cerebral vasospasm: analysis of a large single institution retrospective series and literature review.

Despite being uncommon, postoperative vasospasm (PoVS) present notably high morbidity and mortality rates. Our aim was to identify prognostic factors associated with this condition and introduce a scoring system to improve subsequent clinical and radiological surveillance strategies. We conducted a retrospective analysis of our institutional database covering patients aged over 18 who underwent craniotomic or transsphenoidal surgery for elective tumor removal at the Neurosurgical Unit of our institution between January 2016 and August 2023.

Bacteremic nosocomial pneumonia caused by Gram-negative bacilli: results from the nationwide ALARICO study in Italy.

Purpose: To describe the clinical characteristics and outcomes of patients with nosocomial pneumonia (NP) caused by carbapenem-resistant Gram-negative bacilli (CR-GNB) and to compare them to patients with NP caused by carbapenem-susceptible (CS)-GNB.

Methods: Prospective observational multicenter study including patients with bacteremic NP caused by GNB from the ALARICO Network (June 2018-January 2020). The primary outcome measure was 30-day mortality.

Trigeminal neuralgia in multiple sclerosis: proposal of surgical flowchart and long-term outcome evaluation in a mono-istitutional cohort.

Background: Trigeminal neuralgia (TN) is a chronic pain syndrome more prevalent in patients with multiple sclerosis (MS), often presenting with earlier onset and more intense pain compared to non-MS patients. The management of TN in MS is complex due to the interaction between demyelination and neurovascular factors.

Methods: A retrospective analysis of 35 MS patients treated for TN with 65 procedures between 2010 and 2023 was conducted.

Apalutamide in Metastatic Castration-sensitive Prostate Cancer: Results from the Multicenter Real-world ARON-3 Study.

Background And Objective: Apalutamide (APA) is a treatment for metastatic castration-sensitive prostate cancer (mCSPC). In the ARON-3 study we investigated real-world experiences with APA treatment for mCSPC.

Methods: We retrospectively assessed real-world clinical outcomes for patients with mCSPC treated with APA in the ARON-3 study.

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.

Associations of iron deficiency with cardiac function, congestion, exercise capacity and prognosis in heart failure.

Aims: Uncertainty exists about defining true iron deficiency (ID) in heart failure (HF) patients. We assessed the relationship of different ID definitions with cardiac structure and function, congestion, exercise capacity, and prognosis in HF outpatients.

Methods And Results: Iron deficiency was defined according to guidelines (G-ID: ferritin <100 ng/ml or ferritin 100-299 ng/ml with transferrin saturation [TSAT] <20%).