Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients. A multicenter study by EBMT IEWP.

JAGN1 (Jagunal-homolog1) is a ER-resident transmembrane protein which is part of the early secretory pathway and granulocyte colony-stimulating factor receptor mediated signaling. Autosomal recessively inherited variants in the JAGN1 gene lead to congenital neutropenia, early-onset bacterial infections, aphthosis and skin abscesses due to aberrant differentiation and maturation of neutrophils. In addition, bone metabolism disorders and a syndromic phenotype, including facial features, short stature and neurodevelopmental delay, have been reported in affected patients.

Pemphigus and Bullous Pemphigoid Following COVID-19 Vaccination: A Systematic Review.

The COVID-19 pandemic has encouraged the rapid development and licensing of vaccines against SARS-CoV-2. Currently, numerous vaccines are available on a global scale and are based on different mechanisms of action, including mRNA technology, viral vectors, inactive viruses, and subunit particles. Mass vaccination conducted worldwide has highlighted the potential development of side effects, including ones with skin involvement.

The Greater the Number of Altered Eating Behaviors in Obesity, the More Severe the Psychopathology.

: Altered eating behaviors (AEBs) are not only associated with eating disorders but also play a role in obesity. This study assessed AEBs in individuals with obesity and their association with general and eating psychopathology, using the "Eating Behaviors Assessment for Obesity" (EBA-O). The hypothesis posited that a higher frequency of pathological eating behaviors would correlate with more severe psychopathology.

Kanamycin and G-Quadruplexes: An Exploration of Binding Interactions.

G-quadruplexes (G4s) are distinctive four-stranded nucleic acid structures formed by guanine-rich sequences, making them attractive targets for drug repurposing efforts. Modulating their stability and function holds promise for treating diseases like cancer. To identify potential drug candidates capable of interacting with these complex DNA formations, docking studies and molecular dynamics (MDs) simulations were conducted.

Can Broadening the Kidney Biopsy Criteria Reduce Misleading Diagnoses in Young Patients with End-Stage Renal Diseases? A Survey on the Sicilian Registry of Nephrology, Dialysis, and Transplantation.

Audits allow analysis of the delivery of care and the prevalence of diseases. This study investigated kidney diseases' impact on end-stage renal disease (ERSD) in patients younger than 30 years. : This analysis is retrospectively conducted on young dialysis-dependent patients included in the Sicilian Registry of Nephrology, Dialysis and Transplantation Participants.

Real-World Evaluation of Dupilumab in the Long-Term Management of Eosinophilic Chronic Rhinosinusitis with Nasal Polyps: A Focus on IL-4 and IL-13 Receptor Blockade.

: Chronic rhinosinusitis (CRS) is a complex inflammatory condition of the nasal passages that severely impairs quality of life. Type 2 CRS is characterized by eosinophilic inflammation, driven by cytokines like IL-4, IL-5, and IL-13. These cytokines are key to CRS pathogenesis and contribute to a heavy disease burden, especially with comorbidities.

Articulating Video Stylets in the Setting of Simulated Traumatic Cervical Spine Injury: A Comparison with Four Other Devices and Approaches to Endotracheal Intubation.

Simulation offers the opportunity to train healthcare professionals in complex scenarios, such as those with as traumatized patients. We conducted an observational cross-sectional research simulating trauma with cervical immobilization. We compared five techniques/devices: direct laryngoscopy (DL), videolaryngoscopy (VLS, Glidescope or McGrath), combined laryngo-bronchoscopy intubation (CLBI) and articulating video stylet (ProVu).

Microwave-Energy-Based Device for the Treatment of Cellulite and Localized Adiposity: Recommendations of the "Onda Coolwaves" International Advisory Board.

The body contour market has grown rapidly in recent years, due to persistent requests for noninvasive treatments for localized fat adiposities, cellulite, and skin laxity. A variety of different methods are now available to improve body shaping. This review aims to provide an exhaustive compendium of the main recommendations for the optimal use of an innovative device delivering microwaves (MWs) for unwanted fat and cellulite reduction (Onda Coolwaves, DEKA, Florence, Italy), resulting from the experiences of the most expert international users.

Chemerin and Polycystic Ovary Syndrome: A Comprehensive Review of Its Role as a Biomarker and Therapeutic Target.

Chemerin, an adipokine implicated in inflammatory, metabolic, and adipogenic processes, has been detected in high serum concentration in women with polycystic ovary syndrome (PCOS) and seems to play a role in PCOS pathogenesis. Moreover, at present, no comprehensive and critical document is available in the literature on this topic. The aim of the current study was to comprehensively review the latest available data to confirm the evidence about the association between chemerin and PCOS, highlighting its potential role as an upcoming biomarker and therapeutic target.

Decoding Schizophrenia: How AI-Enhanced fMRI Unlocks New Pathways for Precision Psychiatry.

Schizophrenia, a highly complex psychiatric disorder, presents significant challenges in diagnosis and treatment due to its multifaceted neurobiological underpinnings. Recent advancements in functional magnetic resonance imaging (fMRI) and artificial intelligence (AI) have revolutionized the understanding and management of this condition. This manuscript explores how the integration of these technologies has unveiled key insights into schizophrenia's structural and functional neural anomalies.

Relationship Between DWI-Based Acute Ischemic Stroke Volume, Location and Severity of Dysphagia.

Background/objectives: The impact of stroke location and volume on the development of post-stroke dysphagia is not fully understood. The aim of this study is to evaluate the relationship between acute ischemic lesions and the severity of dysphagia.

Methods: Brain MRIs were obtained with a 1.

Impact of Nursing Interventions via Telephone and Email on the Quality of Life of Patients with Inflammatory Bowel Disease: Preliminary Results of a Comparative Observational Study.

Background: Inflammatory bowel disease (IBD), encompassing ulcerative colitis and Crohn's disease, is a heterogeneous chronic condition characterized by periods of relapse and remission. Ulcerative colitis involves inflammation of the colon and rectum mucosa, while Crohn's disease causes deeper, transmural inflammation affecting all four gut layers from the mouth to the anus and can lead to complications such as fistulation. IBD significantly impacts patients' physical and psychological well-being, thus reducing their quality of life (QoL).

Development and validation of the Italian digit-in-noise test.

Objectives: This research aims to validate the digits-in-noise (DIN) test for the Italian language and develop a version capable of independently assessing both ears while maintaining acceptable administration times.

Methods: Individual digits from 0 to 9 in Italian were recorded and adjusted to equalise recognition probabilities. An iOS application (APP) was developed for the independent ear test using triplets in noise.

Joint EANM/EANO/RANO/SNMMI practice guideline/procedure standard for PET imaging of brain metastases: version 1.0.

This joint practice guideline/procedure standard was collaboratively developed by the European Association of Nuclear Medicine (EANM), the Society of Nuclear Medicine and Molecular Imaging (SNMMI), the European Association of Neuro-Oncology (EANO), and the PET task force of the Response Assessment in Neurooncology Working Group (PET/RANO). Brain metastases are the most common malignant central nervous system (CNS) tumors. PET imaging with radiolabeled amino acids and to lesser extent [F]FDG has gained considerable importance in the assessment of brain metastases, especially for the differential diagnosis between recurrent metastases and treatment-related changes which remains a limitation using conventional MRI.

Biomechanical Changes Related to Low Back Pain: An Innovative Tool for Movement Pattern Assessment and Treatment Evaluation in Rehabilitation.

Low back pain (LBP) is a highly prevalent disorder frequently related to biomechanical alterations. Movement pattern assessments have a role in the rehabilitation management of patients with LBP; however, a precise assessment is challenging in routine clinical settings. Thus, this study aims to assess the biomechanical alterations related to LBP through the development and application of an innovative assessment tool named CameraLab.

Skin Tape Stripping Reveals Distinct Biomarker Profiles in Chronic Hand Eczema of Patients With and Without Comorbid Atopic Dermatitis.

Introduction: Chronic hand eczema (CHE) is a highly prevalent inflammatory skin condition which is often resistant to conventional treatments. Molecular insights of CHE remain limited. Tape stripping combined with high-throughput RNA sequencing can now provide a better insight into CHE pathogenesis in a minimally invasive fashion.

In Web We Trust: The Promised Cannabidiol Effects on Obesity as a Matter of Language and Marketing on Webpages.

Background: Today more and more people search the web for health-related information, risking to come across misinformation and biased content that may affect their treatment decisions. Cannabidiol (CBD) is among the products for which beneficial effects have been claimed, often at the expense of the risks; further keeping in mind unreliable information reported on products themselves.

Objective: This study evaluated the quality of information retrieved by Google on the potential effects of CBD on weight management, also comparing Italian and English contents, hypothesizing generally low quality and language-driven differences in offered information.

Deep Learning-Based Three-Dimensional Analysis Reveals Distinct Patterns of Condylar Remodelling After Orthognathic Surgery in Skeletal Class III Patients.

Objective: This retrospective study aimed to evaluate morphometric changes in mandibular condyles of patients with skeletal Class III malocclusion following two-jaw orthognathic surgery planned using virtual surgical planning (VSP) and analysed with automated three-dimensional (3D) image analysis based on deep-learning techniques.

Materials And Methods: Pre-operative (T1) and 12-18 months post-operative (T2) Cone-Beam Computed Tomography (CBCT) scans of 17 patients (mean age: 24.8 ± 3.

Isolated ACL Reconstruction Versus Combined ACL and Anterolateral Ligament Reconstruction: Functional Outcomes, Return to Sport, and Survivorship: An Updated Meta-analysis of Comparative Studies.

Background: Failure, persistent knee instability, and reinjury rates after anterior cruciate ligament (ACL) reconstruction are still concerns. Biomechanical investigations have highlighted the role of the anterolateral ligament (ALL) as a crucial knee stabilizer, and clinical outcomes after combined ACL and ALL reconstruction appear to indicate the success of the procedure.

Purpose: To compare the functional outcomes, return-to-sport (RTS) rate, and complications between combined ACL and ALL reconstruction and isolated ACL reconstruction.

Early noninvasive ventilation in general wards for acute respiratory failure: an international, multicentre, open-label, randomised trial.

Background: The impact of noninvasive ventilation (NIV) managed outside the intensive care unit in patients with early acute respiratory failure remains unclear. We aimed to determine whether adding early NIV prevents the progression to severe respiratory failure.

Methods: In this multinational, randomised, open-label controlled trial, adults with mild acute respiratory failure (arterial oxygen partial pressure/fraction of inspiratory oxygen [Pao/FiO] ratio ≥200) were enrolled across 11 hospitals in Italy, Greece, and Kazakhstan.

Facial Lymphedema Following Head and Neck Tumor Resection: Preliminary Experience of Supermicrosurgical Treatment With LVA-Report of Three Cases.

Facial lymphedema (FL) is a potential complication following head-and-neck tumor (HNT) therapy. Conservative management is often difficult, and there is limited literature on surgical treatments for FL. This report presents three cases of FL treated with lymphaticovenular anastomosis (LVA).

Reliability and validity of the hand-held dynamometer "NOD": a new instrument for assessment of isometric grip strength.

Introduction: Hand grip strength (HGS) is an important measure in a physiotherapy assessment and for this purpose it is necessary to have valid and reliable instruments to measure it. In this study we aimed at investigating the reliability, validity, and agreement of the new hand-held dynamometer NOD (OT-Bioelettronica, To-Italy) compared to Jamar® hydraulic dynamometer (JD), the gold standard.

Methods: Fifty healthy subjects were selected; 9 trials for the dominant hand and 9 trials for the non-dominant hand were administrated to each of them: 3 trials of HGS with the JD in rung #3, 3 trials with the JD-adapted-grip (like the NOD one), and 3 trials with NOD.

Design and use of a Denoising Convolutional Autoencoder for reconstructing electrocardiogram signals at super resolution.

Electrocardiogram signals play a pivotal role in cardiovascular diagnostics, providing essential information on electrical hearth activity. However, inherent noise and limited resolution can hinder an accurate interpretation of the recordings. In this paper an advanced Denoising Convolutional Autoencoder designed to process electrocardiogram signals, generating super-resolution reconstructions is proposed; this is followed by in-depth analysis of the enhanced signals.