Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease.

Introduction: Gaucher's disease (GD) is caused by biallelic mutations in the GBA1 gene, leading to reduced glucocerebrosidase (GCase) activity and substrate (glucosylceramide and glucosylsphingosine, GlcSph) accumulation. GBA1 variant carriers are at risk of Parkinson's disease (PD), but only those with biallelic mutations cross the threshold of GCase reduction, leading to substrate accumulation and GD. The link between GBA1 mutations, GD and PD is not fully understood.

Relationships between symptoms and lung function in asthma and/or chronic obstructive pulmonary disease in a real-life setting: the NOVEL observational longiTudinal studY.

Background: The relationships between spirometric assessment of lung function and symptoms (including exacerbations) in patients with asthma and/or chronic obstructive pulmonary disease (COPD) in a real-life setting are uncertain.

Objectives: To assess the relationships between baseline post-bronchodilator (post-BD) spirometry measures of lung function and symptoms and exacerbations in patients with a physician-assigned diagnosis of asthma and/or COPD.

Design: The NOVEL observational longiTudinal studY (NOVELTY) is a global, prospective, 3-year observational study.

Association between procedural time and outcome in unsuccessful mechanical thrombectomy for acute ischemic stroke: analysis from the Italian Registry of Endovascular Treatment in Acute Stroke.

Background: We aim to assess the association between procedural time and outcomes in patients in unsuccessful mechanical thrombectomy (MT) for anterior circulation acute stroke.

Methods: We conducted a cohort study on prospectively collected data from patients with M1 and/or M2 segment of middle cerebral artery occlusion with a thrombolysis in cerebral infarction 0-1 at the end of procedure. Primary outcome was 90-day poor outcome.

Dupilumab for COPD with Blood Eosinophil Evidence of Type 2 Inflammation.

Background: Dupilumab, a fully human monoclonal antibody that blocks the shared receptor component for interleukin-4 and interleukin-13, key and central drivers of type 2 inflammation, has shown efficacy and safety in a phase 3 trial involving patients with chronic obstructive pulmonary disease (COPD) and type 2 inflammation and an elevated risk of exacerbation. Whether the findings would be confirmed in a second phase 3 trial was unclear.

Methods: In a phase 3, double-blind, randomized trial, we assigned patients with COPD who had a blood eosinophil count of 300 cells per microliter or higher to receive subcutaneous dupilumab (300 mg) or placebo every 2 weeks.

Incidence of risk factors in developmental dysplasia of the hip: a retrospective study on 18,954 cases.

Background: DDH is 1 of the most important causes of childhood disability. A diagnosis of instability can be made in the neonatal period via the Ortolani and Barlow manoeuvres. However, clinical examination, although highly specific, has poor sensitivity as compared to ultrasound.

Impact of HLA-B51 on Uveitis and Retinal Vasculitis: Data from the AIDA International Network Registries on Ocular Inflammatory Disorders.

Purpose: The clinical relevance of human leukocyte antigen (HLA) subtypes such as HLA-B51 on Behçet's disease (BD)-related uveitis and non-infectious uveitis (NIU) unrelated to BD remains largely unknown.

Methods: Data were prospectively collected from the International AIDA Network Registry for BD and for NIU. We assessed differences between groups (NIU unrelated to BD and positive for HLA-B51, BD-related uveitis positive for HLA-B51 and BD-related uveitis negative for HLA-B51) in terms of long-term ocular complications, visual acuity (VA) measured by best corrected visual acuity (BCVA), anatomical pattern, occurrence of retinal vasculitis (RV) and macular edema over time.

Risk loci involved in giant cell arteritis susceptibility: a genome-wide association study.

Background: Giant cell arteritis is an age-related vasculitis that mainly affects the aorta and its branches in individuals aged 50 years and older. Current options for diagnosis and treatment are scarce, highlighting the need to better understand its underlying pathogenesis. Genome-wide association studies (GWAS) have emerged as a powerful tool for unravelling the pathogenic mechanisms involved in complex diseases.

Sex Differences in Albumin Quotient and Cerebrospinal Fluid Total Protein Content Do Not Depend on Anthropometric Factors.

(1) Background: Cerebrospinal fluid (CSF)/serum albumin quotient (QAlb) and CSF total protein (TP) are more elevated in males than females, and this has been hypothesised to be due to anthropometric differences between the sexes. This study aimed to investigate QAlb and CSF TP as a function of body height, weight, and body mass index (BMI). (2) Methods: A total of 207 patients were included in the study and analysed blinded to clinical diagnosis.

Safety of a Porous Hydroxyapatite Bone Substitute in Orthopedics and Traumatology: A Multi-Centric Clinical Study.

The development of biomaterials in recent years has made it possible to broaden their use in the surgical field. Although iliac crest bone graft harvesting currently remains the gold standard as an autograft, the properties of hydroxyapatite bone substitutes appear to be beneficial. The first fundamental step to consider is the safety of using these devices.

Risk of developing psoriatic arthritis in psoriasis cohorts with arthralgia: exploring the subclinical psoriatic arthritis stage.

Objective: Subjects with subclinical psoriatic arthritis (PsA), defined as the presence of arthralgia in psoriasis (PsO), are at higher risk of PsA but scant real-world data exist. Our aims were to (1) estimate the probability of PsA development in subclinical PsA, (2) characterise subclinical PsA symptoms and (3) determine the clinical patterns at PsA diagnosis.

Methods: Patients with PsO, mainly subclinical PsA, were evaluated longitudinally in two European cohorts.

Determinants of self-perceived quality of life in mildly disabled multiple sclerosis patients: a cross-sectional study.

Introduction: While the determinants influencing self-perceived health-related quality of life (spHRQoL) in persons with multiple sclerosis (pwMS) and severe physical impairment have been well investigated, their impact on pwMS with mild disability is poorly addressed. We aimed to investigate possible drivers of spHRQoL among Sardinian pwMS with an EDSS lower than 2.5.

A SICE (Società Italiana di Chirurgia Endoscopica e Nuove Tecnologie) observational prospective multicenter study on anatomical variants of the superior mesenteric artery: intraoperative analysis during laparoscopic right hemicolectomy-CoDIG 2 database (ColonDx Italian Group).

Colorectal cancer, the third most common cancer worldwide, affects 40-45% of patients on the right side. Surgery, especially minimally invasive methods such as laparoscopic and robotic procedures, is the preferred treatment. However, these techniques present technical complications.

Neuropsychiatric symptoms in Systemic Lupus Erythematosus: mixed methods analysis of patient-derived attributional evidence in the international INSPIRE project.

Objective: Attribution of neuropsychiatric symptoms in systemic lupus erythematosus (SLE) relies heavily on clinician assessment. Limited clinic time, variable knowledge, and symptom under-reporting contributes to discordance between clinician assessments and patient symptoms. We obtained attributional data directly from patients and clinicians in order to estimate and compare potential levels of direct attribution to SLE of multiple neuropsychiatric symptoms using different patient-derived measures.

Revisiting iron overload status and change thresholds as predictors of mortality in transfusion-dependent β-thalassemia: a 10-year cohort study.

Data on iron overload status and change thresholds that can predict mortality in patients with transfusion-dependent β-thalassemia (TDT) are limited. This was a retrospective cohort study of 912 TDT patients followed for up to 10 years at treatment centers in Italy (median age 32 years, 51.6% female).