Diagnosis of hereditary ataxias: a real-world single center experience.

Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario.

Study Design: This is a retrospective, cross-sectional, descriptive study conducted at a single Italian adult neurogenetic outpatient clinic, in 147 patients affected by ataxia with a suspicion of hereditary forms, recruited from November 1999 to February 2024. A stepwise approach for molecular diagnostics was applied: targeted gene panel (TP) next-generation sequencing (NGS) and/or clinical exome sequencing (CES) were performed in the case of inconclusive first-line genetic testing, such as short tandem repeat expansions (TREs) testing for most common spinocerebellar ataxias (SCA1-3, 6-8,12,17, DRPLA), other forms [Fragile X-associated tremor/ataxia syndrome (FXTAS), Friedreich ataxia (FRDA) and mitochondrial DNA-related ataxia, RFC1-related ataxia/CANVAS] or inconclusive phenotype-guided specific single gene sequencing.

Post-myocardial infarction ventricular septal defects: incidence and treatment trends during and after the COVID-19 pandemic.

Ventricular septal defect (VSD) is a serious complication of myocardial infarction (MI), with its global incidence significantly reduced in recent years due to advances in coronary reperfusion techniques. However, during the COVID-19 pandemic, there was an unexpected rise in the incidence of post-MI VSD, likely driven by delays in seeking treatment. This study retrospectively analyzed 10 cases of post-MI VSD treated at our hospitals from March 2018 to August 2023, comparing incidence rates across pre-pandemic, pandemic, and post-pandemic periods.

α-Synuclein in Parkinson's Disease: From Bench to Bedside.

α-Synuclein (α-syn), a pathological hallmark of PD, is emerging as a bridging element at the crossroads between neuro/immune-inflammatory responses and neurodegeneration in PD. Several evidence show that pathological α-syn accumulates in neuronal and non-neuronal cells (i.e.

The Psychoeducational Interventions: a valuable communication tool to support the caregiver of people with dementia.

Background: informal caregivers of people with dementia are at greater risk of developing physical and mental health problems when compared to the general population: they often experience high levels of stress which can lead to a lowered sense of well-being, feelings of being burdened, depression and compromised physical health. The significant beneficial effects of Psychoeducational Interventions on the critical outcomes of caregiver burden and strain were considered sufficient to warrant a recommendation in favour of the intervention. The emergence of the COVID-19 pandemic has significantly increased the use internet-based interventions: this study describes the effectiveness of support program for informal caregivers of people with dementia internet-based and on-site conditions.