A stratified treatment algorithm in psychiatry: a program on stratified pharmacogenomics in severe mental illness (Psych-STRATA): concept, objectives and methodologies of a multidisciplinary project funded by Horizon Europe.

Schizophrenia (SCZ), bipolar (BD) and major depression disorder (MDD) are severe psychiatric disorders that are challenging to treat, often leading to treatment resistance (TR). It is crucial to develop effective methods to identify and treat patients at risk of TR at an early stage in a personalized manner, considering their biological basis, their clinical and psychosocial characteristics. Effective translation of theoretical knowledge into clinical practice is essential for achieving this goal.

Respiratory Viruses in Patients With Hematological Malignancy in Boreal Autumn/Winter 2023-2024: EPICOVIDEHA-EPIFLUEHA Report.

Community-acquired respiratory viral infections (CARV) significantly impact patients with hematological malignancies (HM), leading to high morbidity and mortality. However, large-scale, real-world data on CARV in these patients is limited. This study analyzed data from the EPICOVIDEHA-EPIFLUEHA registry, focusing on patients with HM diagnosed with CARV during the 2023-2024 autumn-winter season.

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.

Obstructive sleep apnea syndrome (OSAS) in women: A forgotten cardiovascular risk factor.

Sleep-disordered breathing is a highly prevalent disorder with negative impact on healthcare systems worldwide. This condition has detrimental effects on cardiovascular health and quality of life, and is frequently associated with a variety of comorbidities, including cardiovascular disease, heart failure, diabetes and atrial fibrillation. Nevertheless, it remains frequently undiagnosed and undertreated, especially in specific populations.

Rare dysfunctional SCN2A variants are associated with malformation of cortical development.

Objective: SCN2A encodes the voltage-gated sodium (Na+) channel α subunit Na1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders.

Exploring emerging JAK inhibitors in the treatment of Aicardi-Goutières syndrome.

Introduction: Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous monogenic autoinflammatory disorder classified as an 'interferonopathy'. Nine genes have been implicated in AGS, encoding proteins involved in nucleic acid clearance, repair, sensing, or histone pre-mRNA processing. Dysregulation in these pathways leads to excessive type I interferon production, the primary driver of the disease.

Clinical trial eligibility in PSP: Population representativeness and potential criteria adjustment based on PSP-NET findings.

Background: Progressive Supranuclear Palsy (PSP) is a rare, heterogeneous neurodegenerative disease for which no treatment is currently available. In the context of clinical trials, the representativeness of the included patients is crucial for the generalizability of the results. Herein, we present results from a multicenter perspective study to identify the most restrictive criteria for patient selection and to assess the representativeness of eligible patients.

Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care.

Purpose: Significant improvements in the prognosis for young patients with Primary Immunodeficiency Diseases (PID) and Autoinflammatory Disorders (AID), which together make up the majority of Inborn Errors of Immunity (IEI), have resulted in the need for optimisation of transition and transfer of care to adult services. Effective transition is crucial to improve health outcomes and treatment compliance among patients. Evaluations of existing transition programmes in European health centres identified the absence of disease-specific transition guidelines for PID and AID, as a challenge to the transition process.

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.

Uveitis in paediatric Behçet disease: a large multicentric Italian cohort.

Background: Behçet disease (BD) is a rare disease in childhood and its uveitis may lead to blindness if not properly treated.

Objectives: We aim to describe a cohort of paediatric BD patients with uveitis.

Design: This is a multicentric retrospective study.

Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for the diagnosis of inborn errors of immunity (IEI).

Background: Inborn errors of immunity (IEIs) are more than 500 different rare congenital disorders of the immune system characterized by susceptibility to infections and immune dysregulation. The significant overlap of the clinical features among the different forms may lead to diagnostic delay. High throughput sequencing techniques may allow a timely genetic definition.

How do we transfuse children in Italy? Results of a national survey.

Background: Adherence to optimal practices in the preparation and issuance of pediatric blood components can significantly influence patient care outcomes. This study aims to examine the blood banking procedures across prominent Italian children's hospitals, with the goal of identifying both consistent and potentially divergent standards within this field.

Materials And Methods: A survey was conducted among the blood banks affiliated with the Italian Association of Pediatric Hospitals.

Beliefs and attitudes of PICU doctors and nurses on parental presence and open visiting policies: an Italian nationwide survey.

Background: The aim of the study is to investigate doctors' and nurses' beliefs and attitudes towards family presence and open visiting policies in Pediatric Intensive Care Units (PICUs) in Italy.

Methods: A multicentric nationwide study was carried out in all 30 Italian PICUs. All doctors and nurses were asked to complete the Italian version of the Beliefs and Attitudes toward Visitation in ICU Questionnaire (BAVIQ).

Improving organisation to improve care: ERN ReCONNET organisational reference model for systemic sclerosis patients' care pathway.

Objective: To optimise the organisation of care and encourage the adoption of good clinical practices, the RarERN Path methodology was designed within ERN ReCONNET. The aim of our work was to report the application of RarERN Path on systemic sclerosis within the ERN ReCONNET centres, providing a feasible and flexible organisational reference model for optimising the systemic sclerosis care pathway in different countries.

Methods: RarERN Path is a six-phase methodology which enables the creation of a reference organisational model co-designed on the basis of the expertise of different stakeholders.

Kinetics of hepatitis B virus replication in anti-HBc positive/HBsAg-negative people with HIV switching to tenofovir sparing therapy.

Objectives: To unravel the still unexplored HBV-replicative kinetics in anti-HBc-positive/HBsAg-negative people-with-HIV (PWH) suspending tenofovir disoproxil-fumarate/tenofovir-alafenamide (TDF/TAF).

Methods: A total of 101 anti-HBc-positive/HBsAg-negative PWH switching to TDF/TAF-sparing therapy were included. Serum HBV-DNA and HBV-RNA were quantified by droplet-digital-PCR at switching (T0), within 12 months (T1) and 12-24 months postswitch (T2).