474 results match your criteria: "Germans Trias i Pujol Research Institute IGTP[Affiliation]"

Background: The increased vulnerability of Alzheimer's disease patients to severe SARS-CoV-2 infection raises crucial concerns, especially with the potential transition of the COVID-19 pandemic to an endemic state. Given the rising prevalence of Alzheimer's in an aging world-wide population, elucidating whether SARS-CoV-2 infection may induce or accelerate neurodegeneration becomes imperative.

Method: To investigate the neurodegenerative effects of SARS-CoV-2 infection, we generated brain organoids using human induced pluripotent stem lines from one non-demented control, one with sporadic Alzheimer's, and one with familial Alzheimer's.

View Article and Find Full Text PDF

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Genet Med

December 2024

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK; Division of Clinical Medicine, University of Sheffield, Sheffield, UK. Electronic address:

Article Synopsis
  • The TAOK proteins are important kinases involved in various cellular functions and are linked to neurodevelopmental disorders (NDDs) like those caused by TAOK1 and TAOK2 variants.
  • A study analyzed clinical and genetic data from individuals with these variants, revealing that TAOK1 variants lead to significant neurodevelopmental issues and some novel characteristics, while TAOK2 variants are tied to neurodevelopmental abnormalities, autism, and obesity.
  • This research expands the understanding of these disorders by presenting the largest cohort of individuals with TAOK1-NDD and identifying new variants and phenotypes associated with both TAOK1 and TAOK2.
View Article and Find Full Text PDF

Justification and objectives: The Spanish Academy of Dermatology and Venereology (AEDV) Psoriasis and Pediatric Working Groups (PSW and PWG) have developed a set of recommendations for the management of pediatric psoriasis based on the best available evidence and experts' opinion. Methodology: The methodology of nominal groups was followed, with help from a scoping review. A coordinator was designated, and a group of experts was selected based on their experience and knowledge on the management of psoriasis.

View Article and Find Full Text PDF

Protocol for flow cytometry immunophenotyping of human antigen-specific T cells by activation-induced marker and Th1 cytokine detection.

STAR Protoc

December 2024

Department of Internal Medicine, University of Genoa, 16132 Genoa, Italy; IRCCS Ospedale Policlinico San Martino, 16132 Genoa, Italy. Electronic address:

Flow cytometry characterization of antigen-specific polyfunctional T cells is a valuable tool to study adaptive immunity. Here, we present a protocol for flow cytometry immunophenotyping of human antigen-specific T cells by activation-induced marker (AIM) and Th1 cytokine detection. We describe steps for preparing peripheral blood mononuclear cells (PBMCs) for stimulation followed by washing and staining PBMCs for flow cytometry.

View Article and Find Full Text PDF

Unlabelled: Background Mental illnesses have been overlooked as a potential factor influencing antibody responses to COVID-19 vaccine. Associations between mental disorders and antibody response might vary by specific disorders, depend on the long-term course of the illness and relate to psychotropic treatment.

Methods: The association between mental illness diagnoses (mood affective disorders, anxiety disorders, other) over ten years and psychotropic drug prescription based on electronic health records with antibody levels (IgG and IgA) post COVID-19 vaccination was assessed in 939 vaccinated adults from Catalonia, Spain.

View Article and Find Full Text PDF

Detection of germline CNVs from gene panel data: benchmarking the state of the art.

Brief Bioinform

November 2024

Hereditary Cancer Program, Catalan Institute of Oncology, Institut d'Investigació Biomèdica de Bellvitge - IDIBELL-ONCOBELL, Avinguda de la Granvia de l'Hospitalet, 199, 08908 L'Hospitalet de Llobregat, Spain.

Germline copy number variants (CNVs) play a significant role in hereditary diseases. However, the accurate detection of CNVs from targeted next-generation sequencing (NGS) gene panel data remains a challenging task. Several tools for calling CNVs within this context have been published to date, but the available benchmarks suffer from limitations, including testing on simulated data, testing on small datasets, and testing a small subset of published tools.

View Article and Find Full Text PDF

First-in-class transactivator-free, doxycycline-inducible IL-18-engineered CAR-T cells for relapsed/refractory B cell lymphomas.

Mol Ther Nucleic Acids

December 2024

Department of Biochemistry and Molecular Biology III and Immunology, Faculty of Medicine, University of Granada, Av. de la Investigación, 11, 18006 Granada, Spain.

Although chimeric antigen receptor (CAR) T cell therapy has revolutionized type B cancer treatment, efficacy remains limited in various lymphomas and solid tumors. Reinforcing conventional CAR-T cells to release cytokines can improve their efficacy but also increase safety concerns. Several strategies have been developed to regulate their secretion using minimal promoters that are controlled by chimeric proteins harboring transactivators.

View Article and Find Full Text PDF

Objective: With HIV now a chronic condition and an aging population, understanding the evolving profiles of older people with HIV (PWH) is crucial. In this longitudinal study, we examined changes in epidemiological and mortality trends among aging PWH aged 60 and above from 1998 to 2021.

Design: The study constructed four retrospective cohorts based on our calendar periods, reflecting the changing epidemiology of HIV - 1998-2003, 2004-2008, 2009-2014, and 2015-2021.

View Article and Find Full Text PDF

Even though anti-PD-1/PD-L1 immune checkpoint inhibitors (ICIs) in non-small cell lung cancer (NSCLC) have improved survival, a high percentage of patients still do not respond to ICIs. Myeloid-derived suppressor cells (MDSCs) are circulating cells that express PD-L1 and can infiltrate and proliferate in the tumor microenvironment, inducing immunosuppression. By evaluating changes in PD-L1 expression of live peripheral blood MDSCs, we are able to define a new PD-L1 index, useful in predicting ICI escape in NSCLC patients before initiating anti-PD-1/PD-L1 immunotherapy.

View Article and Find Full Text PDF
Article Synopsis
  • Extracellular vesicles (EVs) from virus-infected cells could aid in vaccine development by encapsulating viral peptides and indicating tissue changes in infections.
  • Blood samples from severe COVID-19 patients, mild cases, and uninfected healthcare workers were collected to analyze the molecular characteristics of EVs and identify suitable vaccine peptides.
  • Despite the expectation to find viral peptides, the proteomic analysis revealed no such findings, but highlighted a diverse EV cargo linked to inflammation and viral replication, suggesting EVs play a significant role in COVID-19 pathology.
View Article and Find Full Text PDF

experimental model to test new antimicrobials: a methodological approach.

Front Microbiol

November 2024

Microbiology Department, Laboratori Clínic Metropolitana Nord, Germans Trias i Pujol University Hospital (HUGTP), Badalona, Catalonia, Spain.

Given the increasing concern about antimicrobial resistance among the microorganisms that cause infections in our society, there is an urgent need for new drug discovery. Currently, this process involves testing many low-quality compounds, resulting from the testing, on mammal models, which not only wastes time, resources, and money, but also raises ethical questions. In this review, we have discussed the potential of as an intermediary experimental model in this drug discovery timeline.

View Article and Find Full Text PDF

Aim: To compare the perspective of nurses, long-stay immigrants and cultural mediators on intercultural communication in care encounters.

Design: Qualitative secondary analysis of data obtained in two primary studies.

Methods: Two sets of data from two primary studies on nurses and long-stay immigrants (including in total two focus groups and 15 in-depth interviews) were merged.

View Article and Find Full Text PDF

Background: The World Health Organisation (WHO) has identified a range of symptomatic manifestations to aid in the clinical diagnosis of post-COVID conditions, herein referred to as post-acute COVID-19 symptoms. We conducted an international network cohort study to estimate the burden of these symptoms in North American, European, and Asian populations.

Methods: A federated analysis was conducted including 10 databases from the United Kingdom, Netherlands, Norway, Estonia, Spain, France, South Korea, and the United States, between September 1st 2020 and latest data availability (which varied from December 31st 2021 to February 28th 2023), covering primary and secondary care, nationwide registries, and claims data, all mapped to the Observational Medical Outcomes Partnership Common Data Model (OMOP CDM).

View Article and Find Full Text PDF

Background: Interstitial fibrosis and tubular atrophy (IFTA) is a critical factor in the prognosis of kidney health. Currently, IFTA quantitation in kidney biopsy samples is crucial for diagnosis and assessing disease severity, but the available non-invasive biomarkers are not satisfactory. Proteomic studies identified urinary vitronectin (VTN) as a potential biomarker for kidney fibrosis.

View Article and Find Full Text PDF

Clinical-Epidemiological Profile, and Treatment Response in Relation to Associated Atopic Comorbidity in Atopic Dermatitis. Experience From the BIOBADATOP Registry.

Actas Dermosifiliogr

November 2024

Servicio de Dermatología, Hospital Universitari Germans Trias i Pujol, Germans Trias i Pujol Research Institute (IGTP), Badalona, Barcelona, España; Departament de Medicina, Universitat Autònoma de Barcelona (UAB), Barcelona, España.

Article Synopsis
  • A study was conducted on patients with atopic dermatitis (AD) to explore the impact of atopic comorbidities like asthma and allergic rhinitis on their treatment response.
  • Data was collected from the BIOBADATOP registry, involving 509 patients, mostly adults with severe AD, and analyzed for associations between atopic comorbidities and clinical characteristics.
  • Results indicated that patients with personal atopic comorbidities had more severe symptoms and a higher history of treatments, but no significant differences in treatment response were found after 6 and 12 months, suggesting a need for longer follow-up.
View Article and Find Full Text PDF
Article Synopsis
  • 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.
View Article and Find Full Text PDF

The integration of quantitative trait loci (QTLs) with disease genome-wide association studies (GWASs) has proven successful in prioritizing candidate genes at disease-associated loci. QTL mapping has been focused on multi-tissue expression QTLs or plasma protein QTLs (pQTLs). We generated a cerebrospinal fluid (CSF) pQTL atlas by measuring 6,361 proteins in 3,506 samples.

View Article and Find Full Text PDF

Digital health interventions (DHIs) are being increasingly adopted to improve care outcomes and experiences for people living with HIV (PLHIV). Here, we highlight the importance of DHIs in the context of HIV management and recommendations for their equitable integration in the HIV care cascade.

View Article and Find Full Text PDF

DNA transactions introduce torsional constraints that pose an inherent risk to genome integrity. While topoisomerase 1 (TOP1) activity is essential for removing DNA supercoiling, aberrant stabilization of TOP1:DNA cleavage complexes (TOP1ccs) can result in cytotoxic DNA lesions. What protects genomic hot spots of topological stress from aberrant TOP1 activity remains unknown.

View Article and Find Full Text PDF

We aimed to identify plasma cell-free transcripts (cfRNA) associated with Parkinson's disease (PD) that also have a high predictive value to differentiate PD from healthy controls. Leveraging two independent populations from two different movement disorder centers we identified 2,188 differentially expressed cfRNAs after meta-analysis. The identified transcripts were enriched in PD relevant pathways, such as PD (p=9.

View Article and Find Full Text PDF

Background: Mesenchymal stem cell-derived extracellular vesicles (MSC-EVs) have emerged as key regulators of intercellular communication, orchestrating essential biological processes by delivering bioactive cargoes to target cells. Available evidence suggests that MSC-EVs can mimic the functions of their parental cells, exhibiting immunomodulatory, pro-regenerative, anti-apoptotic, and antifibrotic properties. Consequently, MSC-EVs represent a cell-free therapeutic option for patients with inflammatory bowel disease (IBD), overcoming the limitations associated with cell replacement therapy, including their non-immunogenic nature, lower risk of tumourigenicity, cargo specificity and ease of manipulation and storage.

View Article and Find Full Text PDF

Background: Human epidermal growth factor receptor 2 (HER2)-low has emerged as a potential new entity in breast cancer (BC). Data on this subset are limited, and prognostic results are controversial, evidencing the need of further data in a BC real-world cohort.

Methods: Patients with HER2-negative stage I-III BC diagnosed between 2006 and 2016 were retrospectively reviewed in a single cohort from the Catalan Institute of Oncology Badalona.

View Article and Find Full Text PDF

Background: Understanding genetic-metabolite associations has translational implications for informing cardiovascular risk assessment. Interrogating functional genetic variants enhances our understanding of disease pathogenesis and the development and optimization of targeted interventions.

Methods: In this study, a total of 187 plasma metabolite levels were profiled in 4974 individuals of European ancestry of the GCAT| Genomes for Life cohort.

View Article and Find Full Text PDF