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.

A Diagnostic Approach in Large B-Cell Lymphomas According to the Fifth World Health Organization and International Consensus Classifications and a Practical Algorithm in Routine Practice.

In this article, we provide a review of large B-cell lymphomas (LBCLs), comparing the recently published fifth edition of the WHO classification and the International Consensus Classification (ICC) on hematolymphoid tumors. We focus on updates in the classification of LBCL, an heterogeneous group of malignancies with varying clinical behaviors and different pathological and molecular features, providing a comparison between the two classifications. Besides the well-recognized diagnostic role of clinical, morphological and immunohistochemical data, both classifications recognize the ever-growing impact of molecular data in the diagnostic work-up of some entities.

Exploring Sex Differences in Outcomes of Dual Antiplatelet Therapy for Patients With Noncardioembolic Mild-to-Moderate Ischemic Stroke or High-Risk Transient Ischemic Attack: A Propensity-Matched Analysis of the READAPT Study Cohort.

Background: Sex may impact clinical outcomes in patients with stroke treated with dual antiplatelet therapy (DAPT). We aimed to investigate the sex differences in the short-term outcomes of DAPT within a real-world population of patients with noncardioembolic mild-to-moderate ischemic stroke or high-risk transient ischemic attack.

Methods: We performed a propensity score-matched analysis from a prospective multicentric cohort study (READAPT [Real-Life Study on Short-Term Dual Antiplatelet Treatment in Patients With Ischemic Stroke or Transient Ischemic Attack]) by including patients with noncardioembolic mild-to-moderate stroke (National Institutes of Health Stroke Scale score of 0-10) or high-risk transient ischemic attack (age, blood pressure, clinical features, duration of transient ischemic attack, presence of diabetes [ABCD] ≥4) who initiated DAPT within 48 hours of symptom onset.

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.

Transient brain ischemic symptoms and the presence of ischemic lesions at neuroimaging: Results from the READAPT study.

Background: According to the literature, about one third of patients with brain ischemic symptoms lasting <24 h, which are classified as Transient ischemic attacks (TIAs) according to the traditional "time-based" definition, show the presence of acute ischemic lesions at neuroimaging. Recent evidence has shown that the presence of acute ischemic lesions at neuroimaging may impact on the outcome of patients with transient ischemic symptoms treated with dual antiplatelet treatment (DAPT). This uncertainty is even more compelling in recent years as short-term DAPT has become the standard treatment for any non-cardioembolic TIA or minor ischemic stroke.

Exploring Risk Factors Associated With Intensive Care Unit Admission in a Retrospective Cohort of 631 Children With Bronchiolitis.

Aim: Examine the trends and epidemiological features of acute hospitalized bronchiolitis cases among children aged 28 days to 2 years, both before and after the COVID-19 pandemic. Furthermore, evaluate their need for intensive care unit (ICU) admission and identify primary risk factors associated with severe bronchiolitis.

Methods: A retrospective analysis was conducted on the medical records of paediatric patients admitted to Meyer Children's Hospital in Florence (Italy) from September 2019 to March 2023, with the diagnosis of bronchiolitis.

Germline Genetic Susceptibility Testing Among Emirati Nationals at Risk for Hereditary Breast and Ovarian Cancer Syndrome.

Purpose: Breast cancer among Emirati patients is characterized by early-onset disease and later stages at presentation. Little is known about the germline genetic variants that may contribute to these observations. The goal of this study is to characterize the rate and implications of germline genetic variants among a cohort of Emirati patients at risk for hereditary breast and ovarian cancer syndrome.

A Visuo-Haptic System for Nodule Detection Training: Insights from EEG and behavioral analysis.

Medical palpation is a key skill for clinicians. It is typically trained using animal and synthetic models, which however raise ethical concerns and produce high volumes of consumables. An alternative could be visuo-haptic simulations, despite their training efficacy has not been proved yet.

Management of Critically Ill Children with Acute Necrotizing Encephalitis during an H1N1 Outbreak in a Tertiary Pediatric Hospital: A Series of Three Cases and Literature Review.

Acute necrotizing encephalopathy (ANE) is a severe neurological condition that is diagnosed clinically and upon specific radiological imaging. Medical treatment of this condition is uncertain, and timing is likely very important to minimize brain damage and systemic inflammation. The present case series describes three patients suffering from ANE secondary to influenza A/H1N1 infection during a recent outbreak, treated with increasingly aggressive anti-inflammatory approach, and with significantly different outcomes.

Immune response to viscerotropic : a comprehensive review.

and infections are associated with a broad clinical spectrum, ranging from asymptomatic cases to visceral leishmaniasis (VL) with high mortality rates. Clinical manifestations such as post-kala-azar dermal leishmaniasis (PKDL) and visceral leishmaniasis-associated hemophagocytic lymphohistiocytosis-mimic (VL-associated HLH-mimic) further contribute to the diversity of clinical manifestations. These clinical variations are intricately influenced by the complex interplay between the host's immune response and the parasite's escape mechanisms.

An assessment of puberty status in adolescents from the European Upper Paleolithic.

Childhood and adolescence are two life-history stages that are either unique to humans, or significantly expanded in the human life course relative to other primates. While recent studies have deepened our knowledge of childhood in the Upper Paleolithic, adolescence in this period remains understudied. Here, we use bioarchaeological maturational markers to estimate puberty status of 13 Upper Paleolithic adolescents from sites in Russia, Czechia, and Italy to 1) evaluate the feasibility of the application of bioarchaeological puberty assessment methods to Upper Paleolithic (Homo sapiens) skeletal individuals, 2) estimate the timing and tempo of puberty in Upper Paleolithic adolescents compared to other archaeological populations analyzed using the same method, and 3) characterize adolescence in the Upper Paleolithic by contextualizing the results of this puberty assessment with data on individual and population-level health, morbidity and burial practices.

Dynamic interplay of immune response, metabolome, and microbiota in cows during high-grain feeding: insights from multi-omics analysis.

This study explores the dynamics of immune gene expression, ruminal metabolome, and gut microbiota in cows due to the duration of high-grain feeding, shedding light on host response and microbial dynamics in parallel. Cows consumed forage for a week, then gradually transitioned to a high-grain diet, which they consumed for 4 weeks. Immune response was evaluated in ruminal papillae by expression of genes related to the nuclear factor-kappaB (NFkB) pathway and correlated with the microbiota.

Identification of clinical-biological features of newly diagnosed early relapse multiple myeloma patients eligible for autologous stem cell transplantation.

A portion of multiple myeloma (MM) patients relapse early or do not respond to first line treatment. Identification of possible clinical and or biological features of these patients remains an unmet medical need. In this study we assesed the predictive markers for early relapse MM, defined as a progressive disease that occurred within 18 months, from autologoust stem cell transplantation (ASCT) in MM patients who did not have primary refractory disease.

Combining Intravenous Thrombolysis and Dual Antiplatelet Treatment in Patients With Minor Ischemic Stroke: A Propensity Matched Analysis of the READAPT Study Cohort.

Background: The optimal treatment for acute minor ischemic stroke is still undefined. and options include dual antiplatelet treatment (DAPT), intravenous thrombolysis (IVT), or their combination. We aimed to investigate benefits and risks of combining IVT and DAPT versus DAPT alone in patients with MIS.

Impact of respiratory syncytial virus on older children: Exploring the potential for preventive strategies beyond the age of 2 years.

Objective: Respiratory syncytial virus (RSV) causes significant lower respiratory tract infections (LRTIs) in infants and young children. Current prevention targets those under 2 years. This study aims to evaluate RSV patterns and severity in children older than 2 years and to explore the potential extension of preventive strategies to this demographic group.