Publications by authors named "V La Bella"
Background: Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disorder with minimally effective treatment options. An important hurdle in ALS drug development is the non-invasive therapeutic access to the motor cortex currently limited by the presence of the blood-brain barrier (BBB). Focused ultrasound and microbubble (FUS) treatment is an emerging technology that was successfully used in ALS patients to temporarily open the cortical BBB.
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- ALS is a neurodegenerative disease leading to motor neuron loss in the brainstem and spinal cord, influenced by various genetic factors, including possible causal and risk-associated genes.
- The study focused on the impact of structural variants, particularly copy number variations (CNVs), in ALS patients, revealing that a significant number (87%) had multiple CNVs in genes linked to ALS.
- Higher CNV loads were associated with earlier disease onset and faster progression, suggesting that understanding CNVs could improve diagnosis and treatment strategies for ALS.
Chromosomal instability is a hallmark of colorectal carcinogenesis and produces an accumulation of different forms of aneuploidies or broad copy number aberrations. Colorectal cancer is characterized by gain-type broad copy number aberrations, specifically in Chr20, Chr8q, Chr13 and Chr7, but their roles and mechanisms in cancer progression are not fully understood. It has been suggested that broad copy number gains might contribute to tumor development through the so-called caricature transcriptomic effect.
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- - The study investigates hexanucleotide repeat expansions (RE) in genes associated with amyotrophic lateral sclerosis (ALS), particularly focusing on their frequency within the Italian population and their potential link to the disorder's clinical features.
- - Researchers screened 302 ALS patients and compared their RE distribution with that of 167 healthy controls, finding similar distributions but a moderate correlation between longer repeat lengths and certain clinical features such as age of onset and family history.
- - This research is the first of its kind in southern Italy, revealing that while REs are present, the rare pathogenic repeats do not show a significant association with ALS, contributing valuable insights to the genetic understanding of the disorder.
This systematic review aimed to identify and compare instruments measuring nurses' organizational well-being, summarise the dimensions measured by these instruments, the statistical analysis performed for validity evidence and identify an instrument that comprehensively investigates nurses' organizational well-being. The JBI Manual for Evidence Synthesis and the PRISMA checklist were used as guidelines. The search was conducted on Medline, CINAHL, Cochrane Library and Scopus.
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