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Hospital Universitari Vall d'Hebron - H... Publications | LitMetric

135 results match your criteria: "Hospital Universitari Vall d'Hebron - HUVH[Affiliation]"

Article Synopsis
  • TRAF3 is an adaptor protein involved in immune signaling pathways, and deficiencies in TRAF3 can lead to serious health issues, like recurrent infections and autoimmune conditions.
  • A recent study reanalyzed genetic data from patients with immune disorders and discovered three new cases of TRAF3 mutations, which had previously been misdiagnosed as common variable immunodeficiency (CVID).
  • These findings highlight the importance of targeted genetic reanalysis in understanding different clinical presentations of TRAF3 deficiency, and they provide new insights for further research on immune-related diseases.
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Expanding the landscape of systemic sclerosis-related autoantibodies through RNA immunoprecipitation coupled with massive parallel sequencing.

J Autoimmun

December 2024

Systemic Autoimmune Diseases Unit, Internal Medicine Department, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; Systemic Autoimmune Diseases Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.

Article Synopsis
  • The study focused on creating a new test to detect specific autoantibodies in patients with systemic sclerosis (SSc) using RNA immunoprecipitation and massive parallel sequencing techniques.
  • Researchers analyzed serum samples from 307 SSc patients, with 57 undergoing detailed testing that identified 30,966 RNA molecules, ultimately narrowing down to 197 significant molecules linked to SSc-related autoantibodies.
  • The new assay demonstrated high sensitivity and specificity in detecting autoantibodies, revealing not only known targets but also potential new ones associated with different clinical aspects of SSc.
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Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor ().

Int J Mol Sci

September 2024

Growth and Development Group, Vall d'Hebron Institut de Recerca (VHIR)-Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron (HUVH), 08035 Barcelona, Spain.

Article Synopsis
  • Genetic defects in the TSH receptor can lead to various thyroid issues, such as thyroid dysgenesis or dyshormonogenesis, resulting in a wide range of symptoms from severe congenital hypothyroidism to mild hormonal imbalances.
  • A study analyzed 160 pediatric patients with thyroid dyshormonogenesis using high-throughput gene panels and in vitro tests to assess the impact of recognized genetic variants on thyroid function.
  • The findings showed that out of the patients studied, 3.13% had significant genetic variants affecting their thyroid health, with different variants exhibiting varying levels of functional impact, underscoring the necessity of genetic testing for accurate diagnosis.
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Introduction: Diagnosis of cholangiocarcinoma (CCA) can be challenging due to unclear imaging criteria and difficulty obtaining adequate tissue biopsy. Although serum cancer antigen 19-9 and carcinoembryonic antigen have been proposed as potential diagnostic aids, their use remains limited by insufficient sensitivity and specificity. This exploratory analysis aimed to identify individual- and combinations of serum biomarkers to distinguish CCA from hepatocellular carcinoma (HCC) and chronic liver disease (CLD) controls using samples from a published study.

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Pituitary-Adrenal Axis and Peripheral Immune Cell Profile in Long COVID.

Biomedicines

March 2024

Systemic Autoimmune Diseases Research Unit, Vall d'Hebron Institut de Recerca (VHIR), 08035 Barcelona, Spain.

In Long COVID, dysfunction in the pituitary-adrenal axis and alterations in immune cells and inflammatory status are warned against. We performed a prospective study in a cohort of 42 patients who suffered COVID-19 at least 6 months before attending the Long COVID unit at Althaia Hospital. Based on Post-COVID Functional Status, 29 patients were diagnosed with Long COVID, while 13 were deemed as recovered.

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Article Synopsis
  • Common variable immunodeficiency (CVID) is a diverse group of disorders marked by low immunoglobulin levels, difficulty producing specific antibodies, and frequent infections, with complex genetic underpinnings that include both monogenic and polygenic factors.
  • This study focused on investigating the effects of skewed X-chromosome inactivation (XCI) in female CVID patients with rare X-linked gene variants, finding that 75% of the patients analyzed showed skewed XCI with the mutated allele predominantly expressed.
  • The findings suggest that skewed XCI plays a role in a small proportion of CVID cases among females, contributing to its intricate genetic landscape and supporting the idea of polygenic influences in the condition.
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Background: There is a need for new serum biomarkers for early detection of hepatocellular carcinoma (HCC). Haptoglobin (Hp) N-glycosylation is altered in HCC, but the diagnostic value of site-specific Hp glycobiomarkers is rarely reported. We aimed to determine the site-specific glycosylation profile of Hp for early-stage HCC diagnosis.

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In COVID-19, hyperinflammatory and dysregulated immune responses contribute to severity. Patients with pre-existing autoimmune conditions can therefore be at increased risk of severe COVID-19 and/or associated sequelae, yet SARS-CoV-2 infection in this group has been little studied. Here, we performed single-cell analysis of peripheral blood mononuclear cells from patients with three major autoimmune diseases (rheumatoid arthritis, psoriasis, or multiple sclerosis) during SARS-CoV-2 infection.

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Antiphospholipid antibodies (APLA) are strongly associated with thrombosis seen in patients with antiphospholipid syndrome. In COVID-19, thrombosis has been observed as one of the main comorbidities. In patients hospitalised for COVID-19, we want to check whether APLA positivity is associated with COVID-19-related thrombosis, inflammation, severity of disease, or long COVID-19.

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Proteomic Analysis of Dysfunctional Liver Sinusoidal Endothelial Cells Reveals Substantial Differences in Most Common Experimental Models of Chronic Liver Diseases.

Int J Mol Sci

July 2023

Liver Diseases, Vall d'Hebron Institut de Recerca (VHIR), Liver Unit, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.

Molecular markers of dedifferentiation of dysfunctional liver sinusoidal endothelial cells (LSEC) have not been fully elucidated. We aimed at deciphering the molecular profile of dysfunctional LSEC in different pathological scenarios. Flow cytometry was used to sort CD11b/CD32b and CD11b/CD32b LSEC from three rat models of liver disease (bile duct ligation-BDL; inhaled carbon tetrachloride-CCl4; and high fat glucose/fructose diet-HFGFD).

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Single cell transcriptomic analysis of Graves' disease thyroid glands reveals the broad immunoregulatory potential of thyroid follicular and stromal cells and implies a major re-interpretation of the role of aberrant HLA class II expression in autoimmunity.

J Autoimmun

September 2023

Translational Immunology Research Group, Vall D'Hebron Institute of Research (VHIR), Campus Vall D'Hebron, Barcelona, Passeig Vall D'Hebron 119-129, 08035, Spain; Immunology Division, Hospital Universitari Vall D'Hebron (HUVH), Barcelona, Passeig Vall D'Hebron 119-129, 08035, Spain; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Campus Vall D'Hebron, Barcelona, Hospital Universitari Vall D'Hebron and the Other Institutions in the Campus Vall D'Hebron Is, Passeig Vall D'Hebron 119-129, 08035, Spain; Vall d'Hebron Institute of Oncology (VHIO), Centre Cellex, C/ Natzaret, 115-117, 08035 Barcelona, Spain.

The study of the immune response in thyroid autoimmunity has been mostly focused on the autoantibodies and lymphocytes, but there are indications that intrinsic features of thyroid tissue cells may play a role in disrupting tolerance that needs further investigation. The overexpression of HLA and adhesion molecules by thyroid follicular cells (TFC) and our recent demonstration that PD-L1 is also moderately expressed by TFCs in autoimmune thyroid indicates that TFCs they may activate but also inhibit the autoimmune response. Intriguingly, we have recently found that in vitro cultured TFCs are able to suppress the proliferation of autologous lymphocyte T in a contact-dependent manner which is independent of the PD-1/PD-L1 signaling pathway.

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Thyroid cells from normal and autoimmune thyroid glands suppress T lymphocytes proliferation upon contact revealing a new regulatory inhibitory type of interaction independent of PD1/PDL1.

J Autoimmun

April 2023

Translational Immunology Research Group, Vall d'Hebron Institute of Research (VHIR), Campus Vall d'Hebron, Barcelona, Spain; Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Barcelona, Spain; Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Campus Vall d'Hebron, Barcelona, Spain.

Immune Checkpoint Receptors include a number of inhibitory receptors that limit tissue damage during immune responses; blocking PD-1/PD-L1 checkpoint receptor axis led to a paradigm shift in cancer immunotherapy but also to autoimmune adverse effects, prominently thyroid autoimmunity. Although PD-L1 is known to be expressed on thyroid follicular cells (TFCs) of autoimmune glands the role on PD-1/PD-L1 in the interaction between T cells and thyroid cells in the tissue has not been investigated. Here we report that autologous primary TFCs, but not transformed TFCs, inhibit CD4 and CD8 T cell proliferation but no cytokine production.

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Recent evidence suggests that the prognostic impact of gene mutations in patients with chronic lymphocytic leukemia (CLL) may differ depending on the immunoglobulin heavy variable (IGHV) gene somatic hypermutation (SHM) status. In this study, we assessed the impact of nine recurrently mutated genes (BIRC3, EGR2, MYD88, NFKBIE, NOTCH1, POT1, SF3B1, TP53, and XPO1) in pre-treatment samples from 4580 patients with CLL, using time-to-first-treatment (TTFT) as the primary end-point in relation to IGHV gene SHM status. Mutations were detected in 1588 (34.

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Autism spectrum disorder (ASD) is a neurodevelopmental condition with a so far unknown etiology. Increasing evidence suggests that a state of systemic low-grade inflammation may be involved in the pathophysiology of this condition. However, studies investigating peripheral blood levels of immune cells, and/or of immune cell activation markers such as neopterin are lacking and have provided mixed findings.

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Differences in Antiphospholipid Antibody Profile between Patients with Obstetric and Thrombotic Antiphospholipid Syndrome.

Int J Mol Sci

October 2022

Systemic Autoimmune Diseases Research Unit, Vall d'Hebron Institut de Recerca (VHIR), 08035 Barcelona, Catalonia, Spain.

Antiphospholipid syndrome (APS) is a systemic autoimmune condition characterised by the presence of antiphospholipid antibodies (aPL) associated with vascular thrombosis and/or pregnancy complications. In a cohort of 74 yet diagnosed APS individuals fulfilling Sydney laboratory criteria (twice positive for lupus anticoagulant, anticardiolipin, aCL, and/or anti-β2glycoprotein I, aβ2GPI), 33 out of 74 were obstetric APS (OAPS) and 41 thrombotic APS (TAPS) patients. 39% of TAPS patients were women.

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Gastric cancer and gastro-oesophageal junction cancer represent a global health-care challenge. Despite the efficacy of improved chemotherapy and surgical options, these patients still have a poor prognosis. In advanced disease, only trastuzumab and some immune checkpoint inhibitors, such as nivolumab and pembrolizumab in addition to chemotherapy, have demonstrated consistent and reliable efficacy in patients with HER2-positive and PDL1-positive tumours, respectively.

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Somatic genetic variation in healthy tissue and non-cancer diseases.

Eur J Hum Genet

January 2023

Genomics Core Facility, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, 08003, Barcelona, Spain.

Article Synopsis
  • * Recent research is exploring somatic variants in healthy tissues and how they affect cell lineages and various organs, as well as their contributions to monogenic and complex diseases.
  • * Advancements in next-generation sequencing have improved the study of these variants, but challenges remain, necessitating ongoing development in sampling and validation methods.
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Article Synopsis
  • This study explores risk factors for negative health outcomes in bronchiectasis patients in India, filling a gap left by previous research conducted mainly in Western countries.
  • It included 1,018 patients and found that frequent exacerbations, coexisting conditions like COPD, and factors such as age and smoking significantly increased the risk of mortality and severe exacerbations.
  • Infections from Gram-negative pathogens were notably linked to higher mortality rates, while the presence of other infections was associated with more frequent exacerbations.
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Background: It is crucial to assess the levels of protection generated by natural infection or SARS-CoV-2 vaccines, mainly in individuals professionally exposed and in vulnerable groups. Measuring T-cell responses may complement antibody tests currently in use as correlates of protection. Our aim was to assess the feasibility of a validated assay of T-cell responses.

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Erratum to "Digital tools for the assessment of pharmacological treatment for depressive disorder: State of the Art. [European Neuropsychopharmacology 60 (2022) 100-116]".

Eur Neuropsychopharmacol

October 2022

Department of Psychiatry, University of Tartu, Tartu, Estonia; Faculty of Medicine, Department of Medicine, Centre for Neuropsychopharmacology, Division of Brain Sciences, Imperial College London, London, UK; Documental Ltd, Tallin, Estonia; West Tallinn Central Hospital, Tallinn, Estonia.

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Tic disorders and premonitory urges: validation of the Spanish-language version of the Premonitory Urge for Tics Scale in children and adolescents.

Neurologia (Engl Ed)

June 2023

Servicio de Psiquiatría y Psicológica Clínica Infantil y Juvenil, Instituto de Neurociencias, Hospital Clínic Universitari, Barcelona, Spain; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

Introduction: Most people with persistent tics report an unpleasant sensation (premonitory urge) before the tic. In recent years, interest in these sensory phenomena has increased due to their important role in behavioural therapy. However, instruments for assessing these sensations remain scarce.

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Background: Most children and adolescents infected with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) remain asymptomatic or develop a mild coronavirus disease 2019 (COVID-19) that usually does not require medical intervention. However, a small proportion of pediatric patients develop a severe clinical condition, multisystem inflammatory syndrome in children (MIS-C). The involvement of epigenetics in the control of the immune response and viral activity prompted us to carry out an epigenomic study to uncover target loci regulated by DNA methylation that could be altered upon the appearance of MIS-C.

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Can we Train the Immune System of Patients With Cystic Fibrosis?

Arch Bronconeumol

November 2021

Institut de Recerca Vall d'Hebron (VHIR), Hospital Universitari Vall d'Hebron (HUVH), Universitat Autònoma de Barcelona, Spain; Department of Medicine and Surgery, Respiratory Diseases, Università dell'Insubria, Varese-Como, Italy; Immunology Division, Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Research Institute (VHIR), Barcelona, Spain; Department of Cell Biology, Physiology and Immunology, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Personal trainer DIR, Barcelona, Spain; Pneumology Department, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Research Institute (VHIR), CIBER, Barcelona, Spain. Electronic address:

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Digital tools for the assessment of pharmacological treatment for depressive disorder: State of the art.

Eur Neuropsychopharmacol

July 2022

Department of Psychiatry, University of Tartu, Tartu, Estonia; Faculty of Medicine, Department of Medicine, Centre for Neuropsychopharmacology, Division of Brain Sciences, Imperial College London, London, UK; Documental Ltd, Tallin, Estonia; West Tallinn Central Hospital, Tallinn, Estonia.

Depression is an invalidating disorder, marked by phenotypic heterogeneity. Clinical assessments for treatment adjustments and data-collection for pharmacological research often rely on subjective representations of functioning. Better phenotyping through digital applications may add unseen information and facilitate disentangling the clinical characteristics and impact of depression and its pharmacological treatment in everyday life.

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