Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN structural analysis.

Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549) resulting in a loss-of-function effect.

Methods: We enrolled a new IHPRF1 patients' cohort in the framework of an international multicentric collaboration study. Using specialized pathogenicity predictors and structural analyses, we assessed the mechanistic consequences of the deleterious variants retrieved on NALCN structure and function.

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.

Identifying the location-dependent adipose tissue bacterial DNA signatures in obese patients that predict body weight loss.

Recent sets of evidence have described profiles of 16S rDNA sequences in host tissues, notably in fat pads that are significantly overrepresented and can serve as signatures of metabolic disease. However, these recent and original observations need to be further detailed and functionally defined. Here, using state-of-the-art targeted DNA sequencing and discriminant predictive approaches, we describe, from the longitudinal FLORINASH cohort of patients who underwent bariatric surgery, visceral, and subcutaneous fat pad-specific bacterial 16SrRNA signatures.

Plasma Viral Load of 200 Copies/mL is a Suitable Threshold to Define Viral Suppression and HIV Drug Resistance Testing in Low- and Middle-Income Countries: Evidence From a Facility-Based Study in Cameroon.

Introduction: In low-and-middle-income-countries (LMIC), viral suppression is defined as plasma viral load (PVL) below 1000 copies/mL (low-level viremia [LLV]) and threshold for HIV drug resistance (HIVDR) testing. However, there is evidence that drug resistance mutations (DRMs) may emerge at LLV, thus compromising antiretroviral treatment (ART) response We evaluated sequencing success rates (SSR) at LLV, described HIVDR profiles and adequacy with potential efficacy of tenofovir-lamivudine-dolutegravir (TLD).

Methods: A cross-sectional study was conducted among individuals with LLV at the Chantal BIYA International Reference Centre, Yaoundé, Cameroon from January 2020 through August 2021.

Dynamical complexity of postural control system in autism spectrum disorder: a feasibility study of linear and non-linear measures in posturographic analysis of upright posture.

Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder, characterized by impairments in social interaction and communication with restricted and repetitive behavior. Postural and motor disturbances occur more often in ASD, in comparison to typically developing subjects, affecting the quality of life. Linear and non-linear indexes derived from the trajectory of the center of pressure (COP) while subjects stand on force platforms are commonly used to assess postural stability.

Vacuum extraction is successful in 95% of cases with an occiput posterior position: the results of a prospective, multicenter study.

Background: Occiput posterior position is associated with labor arrest, need for operative delivery, and failed instrumental vaginal delivery, with resulting adverse peripartum outcomes. Vacuum extraction is the most commonly performed type of instrumental delivery worldwide.

Objective: This study aimed to investigate the outcome of vacuum extraction in fetuses with sonographically confirmed occiput posterior position before the procedure.

European recommendations from health care professionals and people living with obesity on safe practice for bariatric and metabolic surgery medical tourism: a modified delphi consensus statement from EASO, IFSO-EC and ECPO.

Background: Bariatric and metabolic surgery tourism (BMT) is becoming an increasingly popular route to treatment for patients living with obesity. Recent reports have highlighted that some patients travelling abroad for bariatric surgery have received inadequate care, fraudulent care, and, tragically, some cases have resulted in death. This study aimed to define consensus in Europe regarding safe practices concerning BMT.

Regional disparities in the management and outcomes of ST-elevation myocardial infarction: an Italian analysis focusing on time-dependent reperfusion networks and in-hospital logistics.

Background: Prompt reperfusion is critical for patients with ST-segment elevation myocardial infarction (STEMI) to improve outcomes. Yet, variability in regional healthcare delivery may influence treatment times and patient outcomes. We thus aimed at evaluating differences in management and outcomes of STEMI patients across Northern, Central, and Southern Italy, focusing on time-dependent reperfusion and in-hospital logistics.

Gastrointestinal Dysfunction Bears on the Clinical-Biological Profile of Parkinson's Disease.

Background: Gastrointestinal dysfunction (GID) accompanies any phase of Parkinson's disease (PD), underlying differential clinical-pathological trajectories.

Objective: To investigate associations between GID and peripheral immune or neurodegeneration-related markers in PD.

Methods: One-hundred-and-fourteen patients (n = 55 de novo, DN; n = 59 middle-advanced, MA) completed the Gastrointestinal Dysfunction Scale for PD (GIDS-PD), and other motor and non-motor scales; paired measurement of amyloid-β42, amyloid-β42β/β40, total-tau, phosphorylated-181-tau, total α-synuclein CSF levels, albumin ratio, and peripheral blood cell count were collected.

Are We Able to Optimize Outcomes and Predict Complications in Pelvic Floor Surgery With a Better Understanding of Hormonal, Microbial and Other Factors? A Report From the ICI-RS 2024.

Introduction: Pelvic organ prolapse (POP) is a common condition, affecting women worldwide and is known to have a significant impact on Health Related Quality of Life (HRQoL). Although there are various treatment options available, including pelvic floor muscle training and support pessaries, many women opt for or require surgery, with a lifetime risk of needing surgery of 12%-19%. As with any operation, this does not come without its complications and the reoperation rate following POP surgery is up to 36%.

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.

A call to represent the current diversity of family forms in attachment research.

As family forms become increasingly diverse, their underrepresentation in attachment research is glaring. Although attachment theory aims to explain the influence of early relationships, studies have disproportionately focused on mothers. Even when other attachment figures are considered, the research is typically limited to fathers in biparental mother-father families.

Tumor-derived G-CSF induces an immunosuppressive microenvironment in an osteosarcoma model, reducing response to CAR.GD2 T-cells.

Sarcomas are rare, mesenchymal tumors, representing about 10-15% of all childhood cancers. GD2 is a suitable target for chimeric antigen receptor (CAR) T-cell therapy due to its overexpression in several solid tumors. In this preclinical study, we investigated the potential use of iCasp9.

Flow-diverting stents for the treatment of unruptured distal anterior cerebral artery aneurysms: analysis of the CRETA Registry.

Background: Data about the safety and the efficacy of flow diversion for distal anterior cerebral artery (DACA) aneurysms are limited. We present the largest multicenter analysis evaluating the outcomes of flow diversion in unruptured DACA aneurysm treatment.

Methods: Databases from 39 centers were retrospectively reviewed for unruptured DACA aneurysms treated with flow-diverting stents.

Immunoglobulin light chain mutational status refines IGHV prognostic value in identifying chronic lymphocytic leukemia patients with early treatment requirement.

The mutational status of immunoglobulin (IG) light chain genes in chronic lymphocytic leukemia (CLL) and its clinical impact have not been extensively studied. To assess their prognostic significance, the IG light chain gene repertoire in CLL patients has been evaluated using a training-validation approach. In the training cohort (N = 573 CLL), 92.

Multielectrode Radiofrequency Balloon Catheter for Paroxysmal Atrial Fibrillation: Results From the Global, Multicenter, STELLAR Study.

Introduction: The safety and efficacy of paroxysmal atrial fibrillation (PAF) ablation with the HELIOSTAR multielectrode radiofrequency (RF) balloon catheter have been demonstrated in European studies; data from elsewhere are lacking. This prospective, multicenter study conducted in the United States, Italy, and China investigated the safety and efficacy of pulmonary vein isolation (PVI) using HELIOSTAR in drug-refractory symptomatic PAF.

Methods: The primary effectiveness endpoint (PEE) was 12-month freedom from documented atrial fibrillation/atrial flutter/atrial tachycardia plus freedom from acute procedural failure, nonstudy catheter failure, repeat ablation failure, direct current cardioversion (DCCV), and Class I/III antiarrhythmic drug (AAD) failure.

Counselling in Fetal Medicine: Uncomplicated Twin Pregnancies.

Twin pregnancies account for 3% of all pregnancies and they are burdened by higher morbidity and mortality compared to singletons. The role of ultrasound in the screening, diagnosis and management of possible complications of twin pregnancies has been widely investigated in the current literature. However, despite the progress that have been made in the last decades regarding treatment and evidence-based management of complications, twin pregnancies remain at higher risk of adverse outcomes, requiring therefore dedicated surveillance.

Revolutionizing Radiology with Natural Language Processing and Chatbot Technologies: A Narrative Umbrella Review on Current Trends and Future Directions.

The application of chatbots and NLP in radiology is an emerging field, currently characterized by a growing body of research. An umbrella review has been proposed utilizing a standardized checklist and quality control procedure for including scientific papers. This review explores the early developments and potential future impact of these technologies in radiology.

Counselling in Fetal Medicine: Complications of Monochorionic Diamniotic Twin Pregnancies.

Twin pregnancies are at increased risk of morbidity and mortality compared to singletons. Among all twins, monochorionic pregnancies are at higher risk of specific and non-specific complications compared to dichorionic pregnancies. Therefore, it is of great importance to properly counsel future parents with monochorionic pregnancies regarding the risks of adverse outcomes and the modalities of monitoring and intervention of the potential complications.

The Immune-Centric Revolution Translated into Clinical Application: Peripheral Blood Mononuclear Cell (PBMNC) Therapy in Diabetic Patients with No-Option Critical Limb-Threatening Ischemia (NO-CLTI)-Rationale and Meta-Analysis of Observational Studies.

Chronic limb-threatening ischemia (CLTI), the most advanced form of peripheral arterial disease (PAD), is the comorbidity primarily responsible for major lower-limb amputations, particularly for diabetic patients. Autologous cell therapy has been the focus of efforts over the past 20 years to create non-interventional therapeutic options for no-option CLTI to improve limb perfusion and wound healing. Among the different available techniques, peripheral blood mononuclear cells (PBMNC) appear to be the most promising autologous cell therapy due to physio-pathological considerations and clinical evidence, which will be discussed in this review.