Publications by authors named "S Alfonso"
Background/objectives: Axonal Charcot-Marie-Tooth disease type 2 (CMT2) accounts for 24% of Hereditary Motor/Sensory Peripheral Neuropathies. CMT2 type GG, due to four distinct heterozygous mutations in the Golgi brefeldin A resistant guanine nucleotide exchange factor 1 () gene (OMIM 606483), was described in seven cases from four unrelated families with autosomal dominant inheritance. It is characterized by slowly progressive distal muscle weakness and atrophy, primarily affecting the lower limbs.
View Article and Find Full Text PDFPurpose: This study analysed the main artificial intelligence (AI) models for the diagnosis of cholesteatoma on computed tomography (CT), evaluating their performance and comparing them with each other. The increasing application of AI in radiology requires a systematic comparison of available methodologies.
Methods: A systematic literature review was conducted, selecting relevant articles from the main databases.
A mindfulness-based, cognitive, social, digital relapse-prevention intervention for youth with depression in Australia: study protocol for a randomised controlled trial of Rebound.
BMJ Open
November 2024
Article Synopsis
- * A new online social therapy platform has been developed to support young people with MDD through peer networking, therapeutic content, and various human supports, aiming to prevent relapses alongside traditional treatments.
- * This study will conduct a randomised controlled trial with 255 participants aged 14-27, tracking outcomes like depressive relapse and psychological symptoms over 18 months to assess the effectiveness of the new intervention compared to enhanced usual care.
Article Synopsis
- Repeat expansions in the C9orf72 gene are a leading genetic cause of ALS and frontotemporal dementia, but understanding how this mutation causes neuron death is still unclear, complicating the search for effective therapies.
- Researchers analyzed data from over 41,000 ALS and healthy samples to identify potential treatments, discovering that acamprosate, a drug used for other conditions, might be repurposed for C9orf72-related diseases.
- Their findings demonstrated that acamprosate has neuroprotective properties in cell models and works similarly well as the current treatment, riluzole, showing the potential of using genomic data to find new drug applications.