A5017372582- Ion channel regulation and function
- Dementia and Cognitive Impairment Research
- Obstructive Sleep Apnea Research
- Breast Cancer Treatment Studies
- Sleep and Wakefulness Research
- Alzheimer's disease research and treatments
- Advanced Breast Cancer Therapies
- Genomic variations and chromosomal abnormalities
- Bipolar Disorder and Treatment
- Cerebrovascular and genetic disorders
- Trace Elements in Health
- Autism Spectrum Disorder Research
- Sleep and related disorders
- Sarcoma Diagnosis and Treatment
- Electrochemical Analysis and Applications
- PARP inhibition in cancer therapy
- Congenital heart defects research
- Cancer Diagnosis and Treatment
- RNA Research and Splicing
- Cardiac electrophysiology and arrhythmias
- Genetic Associations and Epidemiology
- RNA regulation and disease
- Mitochondrial Function and Pathology
- Moyamoya disease diagnosis and treatment
- Acute Ischemic Stroke Management
Hospital Universitari Arnau de Vilanova
2012-2025
Universitat de Lleida
2014-2025
Biomedical Research Institute of Lleida
2018-2024
Institut Català de la Salut
2023-2024
Centre Hospitalier Universitaire de Montpellier
2022
Hospital Universitari de Santa Maria
2018-2021
Complejo Hospitalario de Jaén
2020
Hospital Clínic de Barcelona
2017-2019
Institut Català d'Oncologia
2019
Hospital Universitario Ramón y Cajal
2019
Abstract Background: Neurotrophins such as brain-derived neurotrophic factor (BDNF), inflammation and oxidative damage may contribute to the pathophysiology of bipolar disorder (BD) in terms illness activity. To date, there is a lack studies linking cognitive impairment observed BD with these neurobiological mechanisms. This study aimed investigate role factors clinical outcomes sample individuals. Methods: We measured serum BDNF, cytokines stress markers 133 individuals: 52 euthymic...
We compared the clinical and analytical performance of Alzheimer’s disease (AD) plasma biomarkers measured using single-molecule array (Simoa) Lumipulse platforms. quantified levels amyloid beta 42 (Aβ42), Aβ40, phosphorylated tau (Ptau181), total in 81 patients with mild cognitive impairment (MCI), 30 AD, 16 non-AD dementia. found a strong correlation between Simoa methods. Concerning diagnosis, Ptau181/Aβ42 (AUC 0.739, 95% CI 0.592–0.887) Aβ42 0.735, 0.589–0.882 AUC 0.733, 0.567–0.900) had...
The study aimed to evaluate the frequency of pathogenic copy number variants (CNVs) classified as incidental findings (IFs) in prenatal diagnosis and develop consensus recommendations for standardizing their reporting across six centers within Catalan public health system (XIGENICS network). A retrospective review 4219 consecutive microarrays performed network from 2018 2023 was conducted, including all referral reasons. To recommendations, several discussion meetings were held along with an...
Manual ELISA assays are the most commonly used methods for quantification of biomarkers; however, they often show inter- and intra-laboratory variability that limits their wide use. Here, we compared Innotest method with two fully automated platforms (Lumipulse Elecsys) to determine whether these new can provide effective substitutes assays. We included 149 patients AD ( n = 34), MCI 94) non-AD dementias 21). Aβ42, T-tau, P-tau were quantified using (Innotest, Fujirebio Europe), CLEIA on a...
Abstract The aim of this study was to examine whether changes in rat motoneuronal calcitonin gene–related peptide (CGRP) can be correlated with axonal growth and plasticity neuromuscular synapses. Nerve terminal outgrowth induced by local paralysis botulinum toxin. Normal adult soleus tibialis anterior did not show detectable CGRP content at the motor endplates. Following toxin injection there a progressive, transient bimodal increase both motoneuron cell bodies which innervated poisoned...
The majority of studies investigating the association between sleep and Alzheimer's disease (AD) biomarkers have been performed in healthy participants. Our objective was to investigate several that reflect distinct aspects AD physiopathology. cohort included 104 individuals with mild-moderate AD. participants were submitted one-night polysomnography, cerebrospinal fluid collected following morning measure selected associated amyloid deposition, tau pathology, neurodegeneration, axonal...
We evaluated the influence of untreated obstructive sleep apnoea (OSA) on magnitude cognitive decline and several subdomains in patients with mild-to-moderate Alzheimer's disease. In this single-centre study, 144 were recruited prospectively from a impairment unit underwent overnight polysomnography. The mean± sd change Disease Assessment Scale subscale (ADAS-cog) score at 12 months was 3.19±5.61 non-OSA group 0.08±5.62 OSA group, an intergroup difference −3.36 (95% CI 0.19–0.16; p=0.002)....
Abstract T-type Ca2+ channels (TTCC) have been identified as key regulators of cancer cell cycle and survival. In vivo studies in glioblastoma (GBM) murine xenografts shown that drugs able to block TTCC vitro (such tetralol derivatives mibefradil/NNC-55-096, or different 3,4-dihydroquinazolines) slow tumor progression. However, currently available pharmacologic blockers limited selectivity for are unable distinguish between isoforms. Here we analyzed the expression transcripts human GBM...
Understanding of Alzheimer disease (AD) is fundamental for early diagnosis and to reduce caregiver burden. The objective this study evaluate the degree understanding AD among informal caregivers different segments general population through Alzheimer's Disease Knowledge Scale (ADKS). We assessed knowledge in follow-up periods (less than one year, between 1 5 years, over years since diagnosis) individuals from population. ADKS scores were grouped into items: life impact, risk factors,...
The aim of this study was to investigate the usefulness Alzheimer's disease Cerebrospinal Fluid (CSF) biomarkers in predicting progression dementia patients with Mild Cognitive Impairment (MCI). One hundred and thirteen were consecutively recruited from April 2012 2014. Measurement CSF (amyloid-β42 (Aβ42), total tau (t-tau) phosphorylated (p-tau)) a neuropsychological evaluation performed for all patients. We categorized MCI as A+A- N+N- based on presence/absence amyloid pathology...
Autism spectrum disorder (ASD) is a highly heritable disease (~0.9) with complex genetic etiology. It initially characterized by altered cognitive ability which commonly includes impaired language and communication skills as well fundamental deficits in social interaction. Despite the large amount of studies described so far, high clinical diversity affecting autism phenotype remains poorly explained. Recent suggest that rare genomic variations, particular copy number variation (CNV), may...
El conocimiento de la enfermedad Alzheimer es fundamental para el diagnóstico precoz y reducir sobrecarga del cuidador. objetivo fue evaluar grado mediante Alzheimer's Disease Knowledge Scale en cuidadores informales diferentes segmentos población. Se evaluó a diferente periodo seguimiento (menor un año, entre 1-5 más 5 años desde diagnóstico) sujetos población general. La puntuación se agrupó distintos ítems: impacto vital, factores riesgo, síntomas, diagnóstico, tratamiento, progresión...
Background:Hallucinations may have a broad spectrum and include so-called minor hallucinations (MHs). MHs passage (PHs), visual illusions, presence (PrHs). Objective:To determine the prevalence characteristics of in Alzheimer's disease (AD) amne stic mild cognitive impairment (aMCI) patients, to describe their potential relationship with cognition, behavioral symptoms, use psychoactive drugs. Methods:We recruited prospectively consecutively 268 subjects (90 AD mild-moderate drug-naïve 78...
This article reports a Leber hereditary optic neuropathy (LHON) case associated for the first time with mitochondrial m.13513G>A mutation. We present 16-year-old man who complained of subacute, painless, visual loss. Ocular examination showed nerve atrophy, papillary pseudoedema, and disc pallor. Extraocular manifestations included hypertrophic myocardiopathy myopathy. Initial genetic analysis excluded three most common LHON mutations. Sanger sequencing whole deoxyribonucleic acid no...
Conventional G-banding cytogenetics (CC) detects chromosome 17 (chr17) abnormalities in 2% of patients with de novo myelodysplastic syndromes (MDS). We used CC and fluorescence situ hybridization (FISH) (LSI p53/17p13.1) to assess deletion 17p 531 MDS from the Spanish Group Hematological Cytogenetics. FISH detected - or 13 cases (2.6%) whom no were revealed by CC: 0.9% a normal karyotype, 0% non-informative cytogenetics, 50% chr17 abnormality without loss 4.7% an abnormal karyotype not...
Polygenic risk scores (PRS) are a powerful tool for predicting an individual's genetic complex diseases. We have developed web service (PRScomp) as user-friendly to evaluate PRS of the user own population and compare it with worldwide populations. A disease/trait database has been constructed from GWAS Catalog summary statistics. Genotype data test is uploaded merged reference dataset (1000 Genome Project Human Diversity Project) obtain file including common SNPs. The can select curated set...
Abstract Background Alzheimer’s disease (AD) plasma biomarkers related to amyloid (A), tau (T), and neurodegeneration (N) can potentially be used identify these pathological features of the disease, as shown in recent studies. Our objective was compare clinical analytical performance AD measured using single-molecule array (Simoa) Lumipulse platforms. Methods We quantified ATN AT 127 patients with mild cognitive impairment (MCI) (n = 81), 30), non-AD dementia 16) a Simoa HD-1/HD-X analyser...
In Spain, a patient’s unexpected relapse with Plasmodium falciparum raises questions about genetic influences on treatment efficacy. Meanwhile, in separate case, recurrence of malariae prompts speculation latent reservoirs and strategies. Here, we delve into these complex cases that underscore the evolving landscape malaria.