Publications by authors named "A Salvio"
Article Synopsis
- There is currently no objective clinical tool for primary care physicians or dermatologists to identify potentially cancerous skin lesions.
- The study explored the use of multispectral autofluorescence lifetime imaging (maFLIM) dermoscopy to differentiate between malignant and benign pigmented skin lesions through advanced imaging techniques and machine learning models.
- The deep neural network model outperformed others, achieving a sensitivity of 76.84% and specificity of 78.29%, indicating that maFLIM dermoscopy could help doctors in early detection and reduce unnecessary biopsies.
Objective: The biological behavior of Cerebral Cavernous Malformation (CCM) is still controversial, lacking a clear-cut signature for a mechanistic explanation of lesion aggressiveness. In this study, we evaluated the predictive capacity of genetic variants concerning the aggressive behavior of CCM and their implications in biological processes.
Methods: We genotyped the variants in VDR, VDR, VDR, PTPN2 and FCGR2A genes using TaqMan Genotyping Assays in a cohort study with 103 patients, 42 of whom had close follow-up visits for 4 years, focusing on 2 main aspects of the disease: (1) symptomatic events, which included both intracranial bleeding or epilepsy, and (2) the onset of symptoms.
Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations.
J Stroke Cerebrovasc Dis
November 2024
Article Synopsis
- Cerebral Cavernous Malformations (CCM) is a genetic disorder affecting a small percentage of the population and is characterized by vascular irregularities in the brain and spinal cord; the study discovered two new mutations that disrupt important protein functions.* -
- The research analyzed a group of Brazilian CCM patients to identify genetic variations and their potential effects on disease progression, using a combination of genetic sequencing and structural analysis tools.* -
- The findings revealed multiple mutations, demonstrated significant changes in protein structure potentially linked to pathogenesis, and highlighted a wide range of symptoms among patients, although no significant differences were found in clinical characteristics based on the newly identified mutations.*
Article Synopsis
- The study explores the link between high plasma levels of neurofilament light chain (pNfL) and neurocognitive symptoms in patients with Long COVID, indicating that SARS-CoV-2 can lead to long-term brain effects even after mild illness.
- A group of 63 Long COVID patients underwent neurocognitive assessments, revealing that those with cognitive issues and fatigue had significantly higher pNfL levels compared to those without these symptoms.
- The findings suggest that measuring pNfL could help identify individuals at risk for CNS involvement and guide their need for ongoing monitoring and treatment for neurocognitive dysfunction post-COVID.
SARS-CoV-2 can trigger autoimmune central nervous system (CNS) diseases in genetically susceptible individuals, a mechanism poorly understood. Molecular mimicry (MM) has been identified in other viral diseases as potential triggers of autoimmune CNS events. This study investigated if MM is the process through which SARS-CoV-2 induces the breakdown of immune tolerance.
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