Diagnostic Value of the "Insular Knife-Cut" Sign in Patients With Suspected Herpes Simplex Virus Encephalitis.

Background: The "insular knife-cut" sign is a sharp demarcation between hyperintense insular lesions on fluid-attenuated inversion recovery axial images and the basal ganglia, detected on brain MRI. This sign has been associated with herpes simplex virus encephalitis (HSVE); however, its specificity remains unknown. We assessed the frequency and specificity of the insular knife-cut sign in a real-life cohort of patients with suspected HSVE.

The Impact of Anterior Shoulder Dislocation in Elite Soccer Goalkeepers.

Background: Anterior shoulder dislocation is an injury that can impair a professional goalkeeper's career. However, few studies have examined return to play (RTP) after surgery in professional goalkeepers.

Purpose: To assess the RTP, pre- and postinjury performances, and market value of professional goalkeepers who suffered a shoulder dislocation.

The Economic Burden, Epidemiological Insights, and Treatment Patterns of Wilson's Disease: A Real-World Study in Italy.

Background: Wilson's disease (WD) is an autosomal recessive disorder characterized by abnormal copper accumulation, leading to multi-organ damage. The economic impact of WD in Italy has not been comprehensively studied.

Aims: The objectives were to determine the economic burden of WD, describe the demographic and clinical characteristics, and estimate the treatment distribution over time, using real-world data from Italy.

Clinical Characterization and Long-Term Outcome in Children and Adults With Anti-AMPA Receptor Encephalitis.

Background And Objectives: Anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid receptor (anti-AMPAR) encephalitis manifests as limbic encephalitis in adults and is often associated with cancer. Although some reports suggest that it may occur in children, the clinical features in this population, as well as the prognostic factors and long-term outcomes in children and adults, are unknown.

Methods: We performed a retrospective, international collaborative study of patients with anti-AMPAR encephalitis.

Unemployment, work hour reduction, and income loss: An international, multicentered, cross-sectional study of neuromyelitis optica spectrum disorder.

Objectives: To assess loss of employment, work hours, and wages of people with aquaporin-4 antibody-positive or double-seronegative/antibody status unknown neuromyelitis optica spectrum disorder (NMOSD) internationally.

Methods: An investigator-designed survey was administered to adults ages 18-70 years with NMOSD and distributed by neurologists in 23 countries, July 2022 to September 2023.

Results: There were 897 participants (635 aquaporin-4 antibody positive, 262 double-seronegative/untested; 81.

Neonatal diabetes-associated missense PDX1 variant disrupts chromatin association and protein-protein interaction.

PDX1 mutations are associated with multiple forms of diabetes, including syndromic, neonatal, mature onset diabetes of the young (MODY), and type 2 diabetes. Two PDX1 missense mutations (Thr151Met and Asn196Thr) were identified in a pediatric female patient that cause permanent neonatal diabetes, pancreas hypoplasia, and a malformed gallbladder. We found that the mouse Pdx1 Asn197Thr variant (homologous to human PDX1 Asn196Thr), but not Pdx1 Thr152Met (homologous to human PDX1 Thr151Met), altered its nuclear localization and disrupted the PDX1-ONECUT1 interaction.

Complement inhibitor therapy as a steroid-sparing strategy in generalized myasthenia gravis.

Background: Standard management of generalized myasthenia gravis associated with anti-acetylcholine receptor autoantibodies (AChR-gMG) includes corticosteroids and nonsteroidal immunosuppressants. Complement inhibitors (CI) represent a more tailored therapeutic strategy. Real-world data on the steroid-sparing efficacy of CI remain limited.

Assessing Commercial Tissue-Based Assays for Autoimmune Neurologic Disorders (I): Antibodies to Intracellular Antigens.

Background And Objectives: Current strategies to detect autoantibodies against intracellular neural antigens (IC-Abs) include tissue-based assays (TBAs) alongside line blots or cell-based assays (CBAs). Many clinical laboratories use commercially available TBAs as a screening test, but their diagnostic yield has not been assessed. We determined the performance of 2 commercial TBAs in detecting IC-Abs.

Assessing Commercial Tissue-Based Assays for Autoimmune Neurologic Disorders (II): Antibodies to Surface Antigens.

Background And Objectives: Detecting neural surface antibodies (NSAbs) is essential for diagnosing autoimmune encephalitis. The recommended diagnostic strategy involves initial screening with tissue-based assays (TBAs), followed by confirmation with cell-based assays (CBAs). While specialized centers use in-house TBAs, many clinical laboratories depend on commercial TBAs, whose accuracy is yet to be fully assessed.

Ravulizumab for generalized Myasthenia Gravis: a multicenter real-life experience.

Introduction: Ravulizumab, a monoclonal antibody targeting C5, was recently approved for the treatment of anti-AChR positive generalized myasthenia gravis (gMG) patients. The objective of this study is to present the Italian multicenter real-world experience evaluating the safety and efficacy of ravulizumab in gMG within the context of the Expanded Early Access Program (EAP).

Methods: We conducted a retrospective study in 7 gMG referral centres in Italy.

Complement inhibitor therapy in thymoma-associated myasthenia gravis: a real-world experience.

Introduction: Thymoma-associated myasthenia gravis (TAMG) accounts for 15-20% of all myasthenia gravis (MG) cases and is typically characterized by severe clinical manifestations and suboptimal response to conventional therapies. However, TAMG patients are underrepresented in clinical trials, leaving gaps in evidence for optimal treatment strategies. This study assessed the efficacy of complement inhibitors (CI) in TAMG population.

Surgical and Neurological Outcomes in Robotic Thymectomy for Myasthenic Patients with Thymoma.

Background: While the safety and feasibility of robotic thymectomy have been well documented through several studies, the surgical and long-term neurological outcomes in patients with thymomatous myasthenia gravis (MG), particularly in advanced stages, remain scarce. This study aims to evaluate the surgical outcomes in patients undergoing robotic-assisted thymectomy (RATS) for thymoma and to analyze neurological outcomes in patients with myasthenia.

Material And Methods: Out of 128 robotic thymectomies performed at our institution between October 2013 and January 2022, clinical and pathological data from 55 patients diagnosed with thymoma were reviewed.

Light Sensitivity in Myasthenia Gravis: Clinical Characteristics and Impact on Quality of Life.

Introduction/aims: Light sensitivity is occasionally reported in myasthenia gravis patients, yet its prevalence, clinical characteristics, and impact on disease severity and quality of life remain insufficiently explored. This study aimed to evaluate the frequency, clinical characteristics, and the correlation of light sensitivity with myasthenia gravis severity and quality of life in patients.

Methods: Myasthenia gravis patients consecutively admitted to Fondazione Policlinico Universitario A.

"Intra-operative assessment of leg length discrepancy with anterior approach total hip replacement: a comparison between standard table, position table with and without intra-operative radiographs".

Purpose: Post-operative LLD is a major concern after THA. The anterior approach on a standard table allows surgeons for a direct control of the leg length. Intra-operative radiography (IR) helps in assessment of hip biomechanics and anatomic parameters.

Epidemiology, management and patient needs in myasthenia gravis: an Italian multistakeholder consensus based on Delphi methodology.

Objectives: To provide comprehensive information on the burden of myasthenia gravis (MG) in Italy, including the unmet needs of patients and several other aspects related to the disease, based on skilled viewpoints of MG experts.

Design: Iterative analysis conducted in accordance with the best practices of the Delphi method, including anonymity, controlled feedback, and statistical stability of consensus.

Setting And Participants: 24 clinicians, 18 public health experts and 4 patient associations experts completed all the Delphi iterations between 18 April and 3 July 2023, for a total of 46 participants from several Italian Regions.

Seasonal variation in myasthenia gravis incidence.

Introduction: Environmental factors may contribute to myasthenia gravis (MG) development, sometimes with seasonal patterns of exposure. However, whether seasonality has an impact on MG incidence remains unclear. We aimed to investigate the association between seasonality and MG onset.

Lewinnek zone not "the be-all and end-all" functional planning for acetabular component positioning in total hip arthroplasty.

Background: Proper positioning of a total hip arthroplasty (THA) plays a crucial role in the success and long-term survivorship of the implant. Cup positioning within the Lewinnek Safe Zone (LSZ) does not, however, avoid implant dislocation. Thus, the concept of a functional cup position has been introduced.

Effectiveness and Safety of Glecaprevir/Pibrentasvir in Italian Children and Adolescents With Chronic Hepatitis C: A Real-Word, Multicenter Study.

Background & Aims: Glecaprevir/Pibrentasvir (GLE/PIB) has been approved by the European Medicine Agency (EMA) and by the US Food and Drug Administration (US-FDA) for the treatment of children and adolescents from 3 years of age with chronic hepatitis C virus (CHC) infection. The aim of this study was to confirm the real-world effectiveness and safety of GLE/PIB in children and adolescents (3 to < 18 years old) with CHC.

Methods: This prospective, multicentre study involved 11 Italian centres.

Distinguishing seizures in autoimmune limbic encephalitis from mesial temporal lobe epilepsy with hippocampal sclerosis: Clues of a temporal plus network.

Objective: Diagnosing autoimmune limbic encephalitis (ALE) in adults with new-onset seizures can be challenging, especially when seizures represent the predominant manifestation and MRI findings are not straightforward. By comparison with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS), this study aimed to identify ictal electro-clinical features that might help clinicians recognize ALE-related seizures.

Methods: This retrospective, multi-centre study analysed the ictal semiology and EEG correlate of 116 video-EEG-captured seizures in 40 ALE patients and 45 ones recorded in 21 MTLE-HS subjects.

Worrying Presence of Asymptomatic Bacterial Colonisation on Implanted Orthopedic Devices.

Background Bacterial infection after hardware implantation in orthopedic and trauma surgery is devastating, resulting in increased hospital costs and stays, multiple revision surgeries, and prolonged use of antibiotics. The present study aims to determine whether a symbiotic relationship between the human organism and bacteria in hardware implantation may be present, without clinically evident infection. Materials and methods We studied explanted devices for microbiological analysis, using the sonication technique, from patients who underwent surgical removal of musculoskeletal hardware for mechanical reasons.

"Heterotopic ossification after total hip arthroplasty through direct anterior approach without a dedicated orthopaedic table or direct lateral approach: a quasi-randomized single-center study".

Introduction: Heterotopic ossifications (HO) are common after total hip arthroplasty (THA). The invasiveness of surgical approaches plays a relevant role in HO development. The aims of this study were to assess the development of HO 6 months after THA through direct lateral approach (DLA) or direct anterior approach (DAA) without a dedicated orthopaedic table and to assess the clinical impact of HO.

Successful treatment of acute liver failure due to Wilson's disease: Serendipity or fortuity?

Background: Acute liver failure (ALF) may be the first and most dramatic presentation of Wilson's disease (WD). ALF due to WD (WD-ALF) is difficult to distinguish from other causes of liver disease and is a clear indication for liver transplantation. There is no firm recommendation on specific and supportive medical treatment for this condition.

Association of Very Rare Variants with Clinical Features of Alagille Syndrome.

Background: Alagille syndrome (ALGS) is a rare autosomal dominant genetic disease caused by pathogenic variants in two genes: Jagged Canonical Notch Ligand 1 () and Notch Receptor 2 (). It is characterized by phenotypic variability and incomplete penetrance with multiorgan clinical signs.

Methods: Using Next Generation Sequencing (NGS), we analyzed a panel of liver-disease-related genes in a population of 230 patients with cholestasis and hepatopathies.