162 results match your criteria: "Center for Biomedical Research on Rare Diseases (CIBERER)[Affiliation]"

Children interstitial lung disease: Assessment and management.

Pediatr Pulmonol

October 2024

Section of Pediatric Allergy and Pulmonology, Department of Pediatrics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, Barcelona, Spain.

Diffuse parenchymal lung diseases or children interstitial lung disease (chILD) in pediatrics are a heterogenous group of more than 200 rare diseases with an incidence and prevalence around 8.2 and 46.4 cases/million, respectively, higher than previously recognized, probably related to a greater understanding and increased clinical awareness of these diseases.

View Article and Find Full Text PDF

Purpose Of Review: Systemic sclerosis (SSc) and myositis are two different entities that may coexist as an overlap syndrome. Immunological biomarkers such as anti-PM/Scl or anti-Ku reinforce the syndrome. This review is focused on the treatment of different and characteristic manifestations of this syndrome.

View Article and Find Full Text PDF

Background: Histopathological and molecular features have been proposed to hold prognostic information, but few have been validated. The aim of this retrospective study was to validate the Genetic And Morphological Evaluation ('GAME') score and assess the impact of histological characteristics on the prognosis in patients with colorectal liver metastases.

Methods: Data were collected from 176 patients with metastatic colorectal cancer undergoing liver resection at Hospital de la Santa Creu i Sant Pau.

View Article and Find Full Text PDF

Arrangement of residence before hospital discharge for children on home-invasive mechanical ventilation.

Pediatr Pulmonol

August 2024

Pediatric Allergy and Pulmonology Section, Department of Pediatrics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, Barcelona, Spain.

Children on long-term home mechanical ventilation are a growing population due to clinical and technological advances and the benefit for the child's quality of life. Invasive home ventilation is one of the most complex therapies offered in the home setting, requiring adequate home environment and appropriate equipment and supplies before discharge. The transition from hospital to home represents a vulnerable period that can be facilitated with an established transition plan with multidisciplinary team involvement.

View Article and Find Full Text PDF

Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility.

Sci Rep

September 2023

Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, PCCB, 3rd Floor, Calle Santa Rosa 39-57, 08950, Barcelona, Spain.

Extracellular vesicles (EVs) are key mediators of cell-to-cell communication. Their content reflects the state of diseased cells representing a window into disease progression. Collagen-VI Related Muscular Dystrophy (COL6-RD) is a multi-systemic disease involving different cell types.

View Article and Find Full Text PDF

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Genome Med

April 2023

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.

Background: We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvaccinated patients. Therefore, the determinants of life-threatening COVID-19 remain to be identified in ~ 80% of cases.

Methods: We report here a genome-wide rare variant burden association analysis in 3269 unvaccinated patients with life-threatening COVID-19, and 1373 unvaccinated SARS-CoV-2-infected individuals without pneumonia.

View Article and Find Full Text PDF

Vitamin d deficiency with high parathyroid hormone levels is related to late onset SEPSIS among preterm infants.

BMC Pregnancy Childbirth

January 2023

Department of Pediatrics, Unit of Pediatric Research, Reina Sofia University Hospital, Maimonides Institute of Biomedical Research of Cordoba (IMIBIC), University of Córdoba, Córdoba, Spain.

Unlabelled: Preterm infants (PTs) are at greater risk for vitamin D deficiency, which relates to the possibility of a higher incidence of comorbidities. Our goal was twofold, 1) to monitor vitamin D, calcium, phosphorus, parathyroid hormone (PTH), matrix metalloproteinase-8 (MMP-8) serum levels at three-time points during hospitalization, and 2) to assess the association between 25-hydroxyvitamin D (25OHD) levels and outcomes in PTs.

Methods: We carried out a follow-up on 50 Caucasian PTs ≤ 32 weeks of gestational age (GA) and/or ≤ 1500 g birth weight at 28 days and at 4 months.

View Article and Find Full Text PDF

Thyroid hormone regulators in human cerebral cortex development.

J Endocrinol

December 2022

Immunology Frontier Research Center, Osaka University, Osaka, Japan.

Brain development is critically dependent on the timely supply of thyroid hormones. The thyroid hormone transporters are central to the action of thyroid hormones in the brain, facilitating their passage through the blood-brain barrier. Mutations of the monocarboxylate transporter 8 (MCT8) cause the Allan-Herndon-Dudley syndrome, with altered thyroid hormone concentrations in the blood and profound neurological impairment and intellectual deficit.

View Article and Find Full Text PDF

Epigenetic activation of antiviral sensors and effectors of interferon response pathways during SARS-CoV-2 infection.

Biomed Pharmacother

September 2022

Independent Clinical Epigenetics Laboratory, Pomeranian Medical University in Szczecin, Szczecin, Poland; Department of Biomedicine, Aarhus University, Aarhus, Denmark. Electronic address:

Recent studies have shown that methylation changes identified in blood cells of COVID-19 patients have a potential to be used as biomarkers of SARS-CoV-2 infection outcomes. However, different studies have reported different subsets of epigenetic lesions that stratify patients according to the severity of infection symptoms, and more importantly, the significance of those epigenetic changes in the pathology of the infection is still not clear. We used methylomics and transcriptomics data from the largest so far cohort of COVID-19 patients from four geographically distant populations, to identify casual interactions of blood cells' methylome in pathology of the COVID-19 disease.

View Article and Find Full Text PDF

Objective: The objective of this study was to analyse the clinico-serological and histological phenotypes of patients with SSc with associated myopathy.

Methods: From November 2002 to September 2020, 52 patients with SSc underwent a muscle biopsy for suspected myopathy. We established two subgroups according to the histological findings based on the presence of isolated fibrosis or fibrosis together with significant inflammation.

View Article and Find Full Text PDF

Gastrointestinal Involvement in Dermatomyositis.

Diagnostics (Basel)

May 2022

Muscle Research Unit, Department of Internal Medicine, Hospital Clínic de Barcelona, Universidad de Barcelona, Center for Biomedical Research on Rare Diseases (CIBERER), 08036 Barcelona, Spain.

Dermatomyositis is a systemic vasculopathy mainly affecting skin, muscle and lung, but may affect the gastrointestinal tract. We aim to describe clinical characteristics of patients with severe gastrointestinal involvement related to dermatomyositis in our center and medical literature. We retrospectively analysed these patients in our center, including cases of erosions/ulcers, perforation or digestive bleeding.

View Article and Find Full Text PDF

Health-related quality of life (HRQOL) in myasthenia gravis (MG) is frequently decreased. Further, there are many validated clinical scales and questionnaires to evaluate the clinical status in MG. We aimed to determine if there was an improvement in HRQOL following an intensive treatment for MG, identify which demographic and clinical features influenced patients' HRQOL, and investigate if the questionnaire MG-QOL15 correlated with other evaluation scales.

View Article and Find Full Text PDF

Accelerated biological aging in COVID-19 patients.

Nat Commun

April 2022

Guangdong Institute of Gastroenterology, Guangdong Provincial Key Laboratory of Colorectal and Pelvic Floor Disease, The Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China.

Chronological age is a risk factor for SARS-CoV-2 infection and severe COVID-19. Previous findings indicate that epigenetic age could be altered in viral infection. However, the epigenetic aging in COVID-19 has not been well studied.

View Article and Find Full Text PDF

Background Guselkumab is indicated for moderate-to-severe plaque psoriasis. Data from real-life clinical practice regarding its use are scarce, especially concerning patients who relapse after previous biologic therapies. Aim This study aimed to evaluate the effectiveness, safety, and adherence to guselkumab in psoriasis refractory to biologic therapies.

View Article and Find Full Text PDF

Incidence and Prevalence of Children's Diffuse Lung Disease in Spain.

Arch Bronconeumol

January 2022

Paediatric Allergy and Pulmonology Section, Department of Paediatrics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, Spain; Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, Spain; Department of Paediatrics, Obstetrics, Gynecology, Preventative Medicine and Public Health, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain; Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Spain. Electronic address:

Background: Children's diffuse lung disease, also known as children's Interstitial Lung Diseases (chILD), are a heterogeneous group of rare diseases with relevant morbidity and mortality, which diagnosis and classification are very complex. Epidemiological data are scarce. The aim of this study was to analyse incidence and prevalence of chILD in Spain.

View Article and Find Full Text PDF

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

Neurology

March 2022

From the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.

Background And Objectives: Genetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. We aimed to determine the clinical utility of singleton whole-exome sequencing and whole-genome sequencing (sWES-WGS) interpreted with a phenotype- and interactome-driven prioritization algorithm to diagnose GWMD while identifying novel phenotypes and candidate genes.

View Article and Find Full Text PDF

Introduction: Neuromuscular diseases include a large group of heterogeneous and rare pathologies that affect different components of the motor unit. It is essential to optimize resources to know the prevalence of comorbidities in the most frequent groups to establish an early multidisciplinary approach in a specialized setting.

Patients And Methods: Retrospective descriptive study of pediatric and adolescent patients with neuromuscular diseases (NMDs).

View Article and Find Full Text PDF

From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio.

J Invest Dermatol

December 2021

Department of Dermatology, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, Wisconsin, USA. Electronic address:

Despite thousands of reported patients with pandemic-associated pernio, low rates of seroconversion and PCR positivity have defied causative linkage to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Pernio in uninfected children is associated with monogenic disorders of excessive IFN-1 immunity, whereas severe COVID-19 pneumonia can result from insufficient IFN-1. Moreover, SARS-CoV-2 spike protein and robust IFN-1 response are seen in the skin of patients with pandemic-associated pernio, suggesting an excessive innate immune skin response to SARS-CoV-2.

View Article and Find Full Text PDF

Objective: Adverse event (AE) monitoring is central to assessing therapeutic safety. The lack of a comprehensive framework to define and grade maternal and fetal AEs in pregnancy trials severely limits understanding risks in pregnant women. We created AE terminology to improve safety monitoring for developing pregnancy drugs, devices and interventions.

View Article and Find Full Text PDF

Introduction: Irinotecan is a cytotoxic agent that is widely used in the treatment of several types of solid tumors. However, although it is generally well tolerated, approximately 20% to 35% of patients develop severe toxicity, particularly delayed-type diarrhea and neutropenia. As the incidence of such toxicities is often associated with the and genotypes, individualized dosing could reduce these adverse events.

View Article and Find Full Text PDF

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.

Sci Immunol

August 2021

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.

Article Synopsis
  • At least 10% of critical COVID-19 pneumonia cases are linked to genetic defects in type I interferon immunity and autoantibodies against these cytokines, with rare X-linked variants found in 16 male individuals aged 7 to 71 years.
  • In a study involving 1,202 males with unexplained critical COVID-19, none of the asymptomatically infected participants had these deleterious variants, indicating a significant genetic component to severe illness.
  • The research highlights that X-linked recessive TLR7 deficiency plays a crucial role in about 1.8% of critical COVID-19 cases in males under 60, as effective TLR7 and plasmacytoid dendritic cells are vital for
View Article and Find Full Text PDF

Purpose: Genetic variants in genes involved in the distribution, metabolism, accumulation or repair of lesions are likely to influence the response of drugs used in the treatment of Head and Neck Cancer (HNC). We examine the effect of 36 SNPs on clinical outcomes in patients with locally advanced HNC who were receiving platinum-based chemoradiotherapy (CRT).

Methods: These SNPs were genotyped in 110 patients using the iPLEX Gold assay on the MassARRAY method in blood DNA samples and used Kaplan-Meier and Cox regression analyses to compare genotype groups with the survival.

View Article and Find Full Text PDF