The AβA2V paradigm: From molecular insights to therapeutic strategies in Alzheimer's disease and primary tauopathies.

Alzheimer's disease, the leading cause of dementia globally, represents an unresolved clinical challenge due to its complex pathogenesis and the absence of effective treatments. Considering the multifactorial etiology of the disease, mainly characterized by the accumulation of amyloid β plaques and neurofibrillary tangles of tau protein, we discuss the A673V mutation in the gene coding for the amyloid precursor protein, which is associated with the familial form of Alzheimer's disease in a homozygous state. The mutation offers new insights into the molecular mechanisms of the disease, particularly regarding the contrasting roles of the A2V and A2T mutations in amyloid β peptide aggregation and toxicity.

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.

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.

Perioperative Pain Management in Hemophilic Patient Undergoing Orthopedic Surgery: A Narrative Review.

Background: Hemophilia type A and B is associated with spontaneous bleeding in muscle tissues and joints. Acute hemarthrosis, representing 70-80% of all bleedings in severe hemophilia patients, is extremely painful. When surgical procedures are needed in hemophiliac patients, perioperative management should be planned with a multidisciplinary team.

Dietary Habits, Physical Activity and Body Mass Index in Transgender and Gender Diverse Adults in Italy: A Voluntary Sampling Observational Study.

Transgender and gender-diverse (TGD) individuals continue to experience harassment and discrimination across various aspects of life, significantly impacting their physical and mental health. The scarcity of data on their general health, particularly regarding dietary habits, remains a challenge in developing effective healthcare strategies for this population. To address this gap, we analyzed selected dietary habits, physical activity (PA), and body mass index (BMI) among Italian TGD adults compared to the Italian general population (IGP).

Pathogenesis of osteoarthritis, rheumatoid arthritis, and hemophilic arthropathy: The role of angiogenesis.

Introduction: The term 'chronic inflammatory arthritis' (IA) can be used to define a group of heterogeneous diseases in which inflammation of the synovium is the common feature while having different pathogenesis and clinical outcomes. This condition can be found in osteoarthritis (OA), rheumatoid arthritis (RA), and hemophilic arthropathy (HA).

Aim: The objective is to try to highlight similarities and differences in the three pathological conditions and understand both molecular and physiological mechanisms.

Managing Surgical Risks in Hemophilic Elbow Arthropathy: An In-Depth Case Study and Literature Review.

This study presents a detailed case analysis of a 40-year-old male patient with hemophilia A and severe chronic elbow arthropathy, exploring the surgical challenges and outcomes within the context of the current literature. The patient, with a history of multiple comorbidities including Hodgkin's lymphoma and cardiomyopathy, exhibited significant joint damage and functional impairment. A comprehensive approach was employed, collecting all relevant clinical data, including radiographic and MRI findings, to inform treatment decisions.

Front-line liquid biopsy for early molecular assessment and treatment of hospitalized lung cancer patients.

Background: Molecular characterization is pivotal for managing non-small cell lung cancer (NSCLC), although this process is often time-consuming and patients' conditions might worsen while molecular analyses are processed. Our primary aim was to evaluate the performance of "up-front" next-generation sequencing (NGS) through liquid biopsy (LB) of hospitalized patients with newly detected lung neoplasm in parallel with conventional diagnosis. The secondary aim included longitudinal monitoring through LB of patients with oncogenic alterations at baseline.

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.

Sociodemographic profile, health-related behaviours and experiences of healthcare access in Italian transgender and gender diverse adult population.

Purpose: Information on the general health of transgender and gender diverse (TGD) individuals continues to be lacking. To bridge this gap, the National Institute of Health in Italy together with the National Office against Racial Discriminations, clinical centres, and TGD organizations carried out a cross-sectional study to define the sociodemographic profile, health-related behaviours, and experiences of healthcare access in Italian TGD adult population.

Methods: A national survey was conducted by Computer-Assisted Web Interviewing (CAWI) technique.

Total Knee Arthroplasty in People with Hemophilia: Higher Incidence of Periprosthetic Joint Infection and 1-Year Revision/Re-Operation than the General Population and Lower Prosthetic Survival When Early Postoperative Bleeding Complications Occurred: Current Literature Review.

The purpose of this narrative review of the recent literature is to analyze the outcomes, complications, and implant survival of total knee arthroplasty (TKA) carried out on people with hemophilia (PWH). It has been shown that TKA substantially alleviates preoperative pain and improves knee function and the patient's quality of life. However, the complication rates of TKA range between 8.

Comparative study of venous thromboembolic prophylaxis strategies in hemorrhagic stroke: A systematic review and network meta-analysis.

Background: Venous thromboembolic events, including deep vein thrombosis (DVT) and pulmonary embolism (PE), are frequent complications in patients with intracerebral hemorrhage (ICH). Various prophylactic strategies have been employed to mitigate this risk, such as heparin, intermittent pneumatic compression (IPC), and graduated compression stockings (GCS). The optimal thromboembolic prophylaxis approach remains uncertain due to the lack of randomized controlled trials (RCTs) comparing all interventions.

Sensorimotor and inhibitory control in aging premutation carriers.

Aging premutation carriers are at risk of developing neurodegenerative disorders, including fragile X-associated tremor/ataxia syndrome (FXTAS), and there is a need to identify biomarkers that can aid in identification and treatment of these disorders. While FXTAS is more common in males than females, females can develop the disease, and some evidence suggests that patterns of impairment may differ across sexes. Few studies include females with symptoms of FXTAS, and as a result, little information is available on key phenotypes for tracking disease risk and progression in female premutation carriers.

Endophenotype trait domains for advancing gene discovery in autism spectrum disorder.

Autism spectrum disorder (ASD) is associated with a diverse range of etiological processes, including both genetic and non-genetic causes. For a plurality of individuals with ASD, it is likely that the primary causes involve multiple common inherited variants that individually account for only small levels of variation in phenotypic outcomes. This genetic landscape creates a major challenge for detecting small but important pathogenic effects associated with ASD.

Extrusion and Dislocation in Titanium Middle Ear Prostheses: A Literature Review.

Titanium middle ear (ME) prostheses are widely used in surgical practice due to their acoustic properties. However, they present a significant drawback shared by all synthetic materials currently in use for ME reconstruction: they can be rejected by the organism of the host. In this study, we aim to review the current literature on titanium partial ossicular replacement prostheses (PORPs) and total ossicular replacement prostheses (TORPs) extrusion and dislocation.

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on Premutation.

The premutation of the fragile X messenger ribonucleoprotein 1 () gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5' untranslated region and increased levels of mRNA. Molecular mechanisms leading to fragile X-premutation-associated conditions (FXPAC) include cotranscriptional R-loop formations, mRNA toxicity through both RNA gelation into nuclear foci and sequestration of various CGG-repeat-binding proteins, and the repeat-associated non-AUG (RAN)-initiated translation of potentially toxic proteins. Such molecular mechanisms contribute to subsequent consequences, including mitochondrial dysfunction and neuronal death.