Publications by authors named "Garcia-Gonzalez P"

Extramedullary plasmacytoma is rare, it can appear alone or associated with multiple myeloma, representing an extramedullary progression of the disease. We present the case of a 62-year-old woman diagnosed with multiple myeloma who, being in complete remission began to experience abdominal pain and nausea. A rare cause of intestinal subocclusion and upper gastrointestinal bleeding.

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High-throughput proteomic platforms are crucial to identify novel Alzheimer's disease (AD) biomarkers and pathways. In this study, we evaluated the reproducibility and reliability of aptamer-based (SomaScan 7k) and antibody-based (Olink Explore 3k) proteomic platforms in cerebrospinal fluid (CSF) samples from the Ace Alzheimer Center Barcelona real-world cohort. Intra- and inter-platform reproducibility were evaluated through correlations between two independent SomaScan assays analyzing the same samples, and between SomaScan and Olink results.

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In recent decades, immunometabolism in cancers has emerged as an interesting target for treatment development. Indeed, the tumor microenvironment (TME) unique characteristics such as hypoxia and limitation of nutrients availability lead to a switch in metabolic pathways in both tumor and TME cells in order to support their adaptation and grow. Glioblastoma (GBM), the most frequent and aggressive primary brain tumor in adults, has been extensively studied in multiple aspects regarding its immune population, but research focused on immunometabolism remains limited.

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Acute myeloid leukemia (AML) is an aggressive disease with a high relapse rate. In this study, we map the metabolic profile of CD34(CD38) AML cells and the extracellular vesicle signatures in circulation from AML patients at diagnosis. CD34 AML cells display high antioxidant glutathione levels and enhanced mitochondrial functionality, both associated with poor clinical outcomes.

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Despite the central role attributed to neuroinflammation in the etiology and pathobiology of Alzheimer's disease (AD), the direct link between levels of inflammatory mediators in blood and cerebrospinal fluid (CSF) compartments, as well as their potential implications for AD diagnosis and progression, remains inconclusive. Moreover, there is debate on whether inflammation has a protective or detrimental effect on disease onset and progression. Indeed, distinct immunological mechanisms may govern protective and damaging effects at early and late stages, respectively.

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Article Synopsis
  • A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
  • The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
  • While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
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  • A study was conducted to explore the link between insulin resistance (IR) and the progression from mild cognitive impairment (MCI) to Alzheimer's disease (AD) dementia in a group of 400 subjects.
  • Researchers identified a specific metabolic signature with 18 metabolites that are associated with IR and showed that this signature increases the risk of developing AD dementia.
  • The findings suggest that these metabolic pathways could help explain how IR contributes to the development of AD dementia, enhancing our understanding of this relationship.
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Background: Optical coherence tomography (OCT) enables high-resolution imaging of ocular structures in health and disease. Choroid thickness (CT) is a key vascular retinal parameter that can be assessed by OCT and might be relevant in the evaluation of the vascular component of cognitive decline. We aimed to investigate CT changes in a large cohort of individuals cognitive unimpaired (CU), with mild cognitive impairment due to Alzheimer's (MCI-AD), mild cognitive impairment due to cerebrovascular disease (MCI-Va), Alzheimer's disease dementia (ADD), and vascular dementia (VaD).

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  • A genome-wide association study was conducted to analyze cerebrospinal fluid (CSF) and brain metabolite levels, revealing 205 associations for CSF metabolites and 32 for brain metabolites, with a significant portion being new signals.
  • The research found that most new signals for CSF (96.9%) and brain metabolites (71.4%) were related to previously studied metabolites in blood and urine.
  • The study identified 71 metabolite-trait associations linked to various neurological and psychiatric conditions, enhancing understanding of how brain metabolism may influence human traits and diseases.
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Background: Meniscal ramp lesions are a special type of meniscal injury that affects the periphery of the posterior horn of the medial meniscus and/or its meniscocapsular attachments, strongly associated with anterior cruciate ligament (ACL) tears. Due to their location, these lesions can be missed arthroscopically so it is essential to diagnose them on preoperative magnetic resonance imaging (MRI).

Purpose: To evaluate the accuracy of MRI in detecting meniscal ramp lesions in patients with ACL tears using arthroscopy as the reference standard.

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Background: The identification of patients with an elevated risk of developing Alzheimer's disease (AD) dementia and eligible for the disease-modifying treatments (DMTs) in the earliest stages is one of the greatest challenges in the clinical practice. Plasma biomarkers has the potential to predict these issues, but further research is still needed to translate them to clinical practice. Here we evaluated the clinical applicability of plasma pTau181 as a predictive marker of AD pathology in a large real-world cohort of a memory clinic.

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Background: Alzheimer's disease (AD) has a high heritable component characteristic of complex diseases, yet many of the genetic risk factors remain unknown. We combined genome-wide association studies (GWAS) on amyloid endophenotypes measured in cerebrospinal fluid (CSF) and positron emission tomography (PET) as surrogates of amyloid pathology, which may be helpful to understand the underlying biology of the disease.

Methods: We performed a meta-analysis of GWAS of CSF Aβ42 and PET measures combining six independent cohorts (n=2,076).

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Article Synopsis
  • The study analyzed serum proteins in 5,127 older Icelandic adults to gain insights into the molecular processes of late-onset Alzheimer's disease (LOAD) over nearly 13 years.
  • Researchers identified 303 proteins linked to incident LOAD, with over 40% showing independent associations from the APOE-ε4 gene variant, indicating involvement in neuronal functions.
  • Four proteins were found to be downregulated by APOE-ε4 but upregulated in LOAD, suggesting they may reflect a biological response to the onset of the disease, highlighting dysregulated processes early in LOAD development.
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  • Cerebral small vessel disease (cSVD) is a major contributor to stroke and dementia, and currently lacks specific treatments, prompting a study using Mendelian randomization to identify protein associations.
  • The research combined cerebrospinal fluid (CSF) and plasma data with genetic studies to identify 49 proteins linked to cSVD, highlighting 16 that appeared in both fluids and showing connections to immune response and extracellular matrix pathways.
  • Notably, many identified proteins were associated with stroke and dementia, with some already having known drug targets, paving the way for potential new biomarkers and therapies for cSVD.
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  • * A study analyzed 4,685 sporadic FTD cases and found significant genetic variants at the MAPT and APOE loci that increase the risk for the disease, indicating potential genetic overlap with other neurodegenerative diseases.
  • * The genetic risk factors appear to vary by population, with MAPT and APOE associations predominantly found in Central/Nordic and Mediterranean Europeans, suggesting a need for further research into these population-specific features for better understanding of sporadic FTD.
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Article Synopsis
  • - The study investigates the genetic factors behind neuropsychiatric symptoms common in Alzheimer's disease, specifically psychosis (AD+P) and affective disturbances like depression and anxiety (AD+A).
  • - Using a large sample of nearly 10,000 Alzheimer's participants, researchers found genetic correlations between AD+P and AD+A, but these two conditions also showed distinct genetic profiles when compared to psychiatric disorders in non-AD individuals.
  • - The findings highlight the need for integrating genetic data to develop better treatments, as both psychosis and affective symptoms in Alzheimer's have shared and differing genetic associations.
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Purpose: There is an urgent need to improve access to cancer therapy globally. Several independent initiatives have been undertaken to improve access to cancer medicines, and additional new initiatives are in development. Improved sharing of experiences and increased collaboration are needed to achieve substantial improvements in global access to essential oncology medicines.

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Importance: Gastrointestinal stromal tumor (GIST) is a rare cancer treated with the tyrosine kinase inhibitors imatinib mesylate or sunitinib malate. In general, in low- and middle-income countries (LMICs), access to these treatments is limited.

Objective: To describe the demographic characteristics, treatment duration, and survival of patients with GIST in LMICs treated with imatinib and sunitinib through The Max Foundation programs.

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Article Synopsis
  • - Microglial dysfunction is linked to Alzheimer's disease (AD), with a focus on a variant affecting the SIRPβ1 receptor that regulates the clearance of amyloid-β (Aβ).
  • - The study found that a specific insertion in the SIRPβ1 gene alters protein function, increasing the risk of AD and affecting cognitive decline rates in patients with mild cognitive impairment.
  • - Results suggest that this SIRPβ1 variant could influence microglial responses to Aβ and may serve as a potential target for treatment strategies that involve the TREM2-TYROBP pathway.
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Previous studies have suggested a relationship between the number of CAG triplet repeats in the HTT gene and neurodegenerative diseases not related to Huntington's disease (HD). This study seeks to investigate whether the number of CAG repeats of HTT is associated with the risk of developing certain tauopathies and its influence as a modulator of the clinical and neuropathological phenotype. Additionally, it aims to evaluate the potential of polyglutamine staining as a neuropathological screening.

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Introduction: Optical coherence tomography angiography (OCT-A) is a novel tool that allows the detection of retinal vascular changes. We investigated the association of macular vessel density (VD) in the superficial plexus assessed by OCT-A with measures of cerebrovascular pathology and atrophy quantified by brain magnetic resonance imaging (MRI) in non-demented individuals.

Methods: Clinical, demographical, OCT-A, and brain MRI data from non-demented research participants were included.

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Background: Several studies have reported a relationship between retinal thickness and dementia. Therefore, optical coherence tomography (OCT) has been proposed as an early diagnosis method for Alzheimer's disease (AD). In this study, we performed a genome-wide association study (GWAS) aimed at identifying genes associated with retinal nerve fiber layer (RNFL) and ganglion cell inner plexiform layer (GCIPL) thickness assessed by OCT and exploring the relationships between the spectrum of cognitive decline (including AD and non-AD cases) and retinal thickness.

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Background: Advancement in screening tools accessible to the general population for the early detection of Alzheimer's disease (AD) and prediction of its progression is essential for achieving timely therapeutic interventions and conducting decentralized clinical trials. This study delves into the application of Machine Learning (ML) techniques by leveraging paralinguistic features extracted directly from a brief spontaneous speech (SS) protocol. We aimed to explore the capability of ML techniques to discriminate between different degrees of cognitive impairment based on SS.

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Background And Objectives: Higher YKL-40 levels in the CSF are a known biomarker of brain inflammation. We explored the utility of plasma YKL-40 as a biomarker for accelerated brain aging and dementia risk.

Methods: We performed cross-sectional and prospective analyses of 4 community-based cohorts in the United States or Europe: the Age, Gene/Environment Susceptibility-Reykjavik Study, Atherosclerosis Risk in the Communities study, Coronary Artery Risk Development in Young Adults study, and Framingham Heart Study (FHS).

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