Publications by authors named "Ricard Lopez Ortega"
Background: Alzheimer's disease (AD) plasma biomarkers related to amyloid (A), tau (T), and neurodegeneration (N) can potentially be used to identify these pathological features of the disease, as shown in recent studies. Our objective was to compare the clinical and analytical performance of plasma AD biomarkers measured using the single-molecule array (Simoa) and Lumipulse platforms.
Method: We quantified ATN and AT plasma biomarkers in 127 patients with mild cognitive impairment (MCI) (n = 81), AD (n = 30), and non-AD dementia (n = 16) using a Simoa HD-1/HD-X analyser (Quanterix) and a Lumipulse G600II automated platform (Fujirebio Europe NV).
We compared the clinical and analytical performance of Alzheimer's disease (AD) plasma biomarkers measured using the single-molecule array (Simoa) and Lumipulse platforms. We quantified the plasma levels of amyloid beta 42 (Aβ42), Aβ40, phosphorylated tau (Ptau181), and total tau biomarkers in 81 patients with mild cognitive impairment (MCI), 30 with AD, and 16 with non-AD dementia. We found a strong correlation between the Simoa and Lumipulse methods.
View Article and Find Full Text PDFBackground: Polygenic risk scores (PRS) are a powerful tool for predicting an individual's genetic risk for complex diseases.
Methods: We have developed a web service (PRScomp) as a user-friendly tool to evaluate PRS of the user own population and compare it with worldwide populations.
Results: A disease/trait database has been constructed from GWAS Catalog summary statistics.
Article Synopsis
- - Tuberous sclerosis complex (TSC) is a genetic disorder causing hamartomas in various organs and is linked to mutations in the TSC1 and TSC2 genes, with many cases remaining undiagnosed despite genetic testing.
- - The authors developed a comprehensive diagnostic method combining multiplex ligation-dependent probe amplification and advanced next-generation sequencing to better identify genetic variants in TSC patients.
- - Their approach successfully identified the molecular cause in 29 out of 42 patients, including 12 new pathogenic variants, and highlighted the presence of low-frequency mosaic variants in some patients, enhancing the accuracy of TSC diagnosis.
Background: Episodic ataxia type 2 is an autosomal dominant channelopathy, caused by genetic variants in the voltage-dependent calcium channel a-1 subunit (CACNA1A), which is characterized by intermittent episodes of vertigo and ataxia. A slow progression of cerebellar signs is commonly observed in the course of the disease. Treatment with the carbonic anhydrase inhibitor acetazolamide is recommended.
View Article and Find Full Text PDFArticle Synopsis
- Manual ELISA assays are commonly used to quantify biomarkers but have issues with variability, leading researchers to compare them with fully automated methods (Lumipulse and Elecsys) in a study involving 149 patients with different types of dementia.
- * The study found a high correlation between all three methods for measuring biomarkers Aβ42, T-tau, and P-tau, although some systematic differences in values were identified.
- * The automated methods (Lumipulse and Elecsys) were shown to align well with clinical diagnoses, particularly when using biomarker ratios like Aβ42/Aβ40, enhancing diagnostic accuracy for Alzheimer's disease.
T-type Ca channels (TTCC) have been identified as key regulators of cancer cell cycle and survival. studies in glioblastoma (GBM) murine xenografts have shown that drugs able to block TTCC (such as tetralol derivatives mibefradil/NNC-55-096, or different 3,4-dihydroquinazolines) slow tumor progression. However, currently available TTCC pharmacologic blockers have limited selectivity for TTCC and are unable to distinguish between TTCC isoforms.
View Article and Find Full Text PDFBackground: Hallucinations may have a broad spectrum and include so-called minor hallucinations (MHs). MHs include passage hallucinations (PHs), visual illusions, and presence hallucinations (PrHs).
Objective: To determine the prevalence and characteristics of MHs in Alzheimer's disease (AD) and amnestic mild cognitive impairment (aMCI) patients, and to describe their potential relationship with cognition, behavioral symptoms, and use of psychoactive drugs.