A5025395716- Legionella and Acanthamoeba research
- Antifungal resistance and susceptibility
- Genetics and Neurodevelopmental Disorders
- Water Treatment and Disinfection
- Epigenetics and DNA Methylation
- Cancer-related gene regulation
- Genomic variations and chromosomal abnormalities
- Vibrio bacteria research studies
- Bacterial biofilms and quorum sensing
- Signaling Pathways in Disease
- Congenital heart defects research
- Bacillus and Francisella bacterial research
- Indoor Air Quality and Microbial Exposure
- Ubiquitin and proteasome pathways
- Mycobacterium research and diagnosis
- Peptidase Inhibition and Analysis
- Biosensors and Analytical Detection
- RNA modifications and cancer
- Genomics and Chromatin Dynamics
- Insect Resistance and Genetics
- Cancer-related Molecular Pathways
- Protease and Inhibitor Mechanisms
- Ocular Oncology and Treatments
- Cellular transport and secretion
- Pleural and Pulmonary Diseases
Instituto de Salud Carlos III
2001-2025
National Institute of Infectious Diseases
2024
Instituto de Investigación de Enfermedades Raras
2020-2022
Centro Nacional de Microbiologia
2001-2008
Ajuntament de Barcelona
2001
An explosive outbreak of Legionnaires' disease occurred in Murcia, Spain, July 2001. More than 800 suspected cases were reported; 449 these confirmed, which made this the world's largest reported to date. Dates onset for confirmed ranged from June 26 19, with a case-fatality rate 1%. The epidemic curve and geographic pattern 600 competed epidemiologic questionnaires indicated an outdoor point-source exposure northern part city. A case-control study matching 85 patients living outside city...
SUMMARY An outbreak of Legionnaire's disease was detected in Pamplona, Spain, on 1 June 2006. Patients with pneumonia were tested to detect Legionella pneumophila antigen urine (Binax Now; Binax Inc., Scarborough, ME, USA), and all 146 confirmed cases interviewed. The related district 2 (22 012 inhabitants), where 45% the lived 50% had visited; 5% neighbouring districts. highest incidence found resident population (3/1000 section (14/1000). All 31 cooling towers analysed. L. Now) four...
To study the persistence of Legionella over time in different disinfected facilities and analysing whether failures bacterial eradication could be result a decrease susceptibility persistent strains to subsequent treatments.A long-term environmental surveillance was carried out three associated with cases Legionnaires' disease (a hospital, fishing boat hotel). Despite several hyperchlorination episodes, amplified fragment length polymorphism, pulsed field gel electrophoresis-SfiI arbitrarily...
It was reported that two mechanics working on a cargo ship under repair in the port of Barcelona had died after having fever. An investigation made into possibility any additional cases and presence Legionella pneumophila they were repairing their hotel. The contaminated water system treated with sodium hypochlorite. Both patients been repeatedly diagnosed as influenza. occurred among those who pump ship's system, while no observed other workers (p = 0.02). Various serogroups L. isolated...
<title>Abstract</title> The dysregulation of the epigenetic machinery has been linked to neurodevelopmental defects in humans. One such syndrome is Kleefstra (KS), which results from heterozygous alterations <italic>EHMT1</italic> gene, leading loss function. EHMT1 and EHMT2 are highly similar histone methyltransferases that play crucial roles development. Despite their similarity, <italic>EHMT2</italic> have not previously reported. In this study, we present a pediatric patient exhibiting...
Although cases of Legionnaires’ disease are notifiable, data on the phenotypic and genotypic characterisation clinical isolates limited. This retrospective study aims to report results Legionella in Spain from 2012 2022. Monoclonal antibodies Dresden panel were used for identification pneumophila. Genotypic sequence type assignment performed using Sequence-Based Typing scheme. Of 1184 samples, 569 identified as by culture. these, 561 L. pneumophila, which 521 serogroup 1. The most common...
Abstract Disruption of the autism susceptibility candidate 2 (AUTS2) gene through genomic rearrangements, copy number variations (CNVs), and intragenic deletions mutations, has been recurrently involved in syndromic forms developmental delay intellectual disability, known as AUTS2 syndrome. The plays an important role regulation neuronal migration, when altered, associates with a variable phenotype from severely to mildly affected patients. more severe phenotypes significantly correlate...
Pathogenic hemizygous or heterozygous mutations in the IQSEC2 gene cause X-linked intellectual developmental disorder-1 (XLID1), characterized by a variable phenotype including delay, disability, epilepsy, hypotonia, autism, microcephaly and stereotypies. It affects both males females typically through loss of function haploinsufficiency females. Females are generally less affected than males. Two novel unrelated cases, one male female, with de novo variants were detected trio-based whole...
Alpha-1 antitrypsin deficiency (AATD) is an inherited condition characterized by reduced levels of serum AAT due to mutations in the SERPINA1 (Serpin family A member 1) gene. The Pi*S (Glu264Val) one most frequent deficient alleles AATD, showing high incidence Iberian Peninsula. Herein, we describe two new carrying S mutation but producing a null phenotype: QOVigo and QOAachen. were identified sequencing gene three patients who had lower than expected for initial genotype. These are result...
Dysregulation of the epigenetic machinery is associated with neurodevelopmental defects in humans. Kleefstra syndrome (KS) a caused by heterozygous alterations gene EHMT1 that cause loss-of-function. EHTM1 and EHMT2 are highly similar histone methyltransferases play relevant roles development. Despite their similarity, individuals have never been described. Here, we describe pediatric patient KS overlapping phenotype single base de novo substitution causes amino acid change p.Ala1077Ser...
Alpha-1 Antitrypsin deficiency (AATD) is an inherited condition characterized by reduced levels of serum AAT due to mutations in SERPINA1 gene. Together, PiZ (Glu342Lys) and the PiS (Glu264Val) are most frequent deficient alleles AATD reduce protein level 80% 40% respectively. Genotyping patients, important step many diagnostic algorithms. However, there individuals with lower than expected for initial genotype. In these cases sample must be further analyzed sequencing coding exons gene,...