A5050928126- Protease and Inhibitor Mechanisms
- Peptidase Inhibition and Analysis
- Tuberculosis Research and Epidemiology
- Diagnosis and treatment of tuberculosis
- Blood Coagulation and Thrombosis Mechanisms
- Vascular Malformations and Hemangiomas
- Pulmonary Hypertension Research and Treatments
- Thyroid Disorders and Treatments
- Infectious Diseases and Tuberculosis
- Extracellular vesicles in disease
- Pneumonia and Respiratory Infections
- Genomic variations and chromosomal abnormalities
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Groundwater and Isotope Geochemistry
- MicroRNA in disease regulation
- Cystic Fibrosis Research Advances
- Circular RNAs in diseases
- Tumors and Oncological Cases
- Water Quality and Pollution Assessment
- Aquatic Ecosystems and Phytoplankton Dynamics
- Latin American history and culture
- Cellular transport and secretion
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Cardiac Fibrosis and Remodeling
- Genomics and Rare Diseases
Hospital Sierrallana
2012-2023
University of Zurich
2023
Universidad de La Frontera
2022
Brazilian Institute of Geography and Statistics
2016-2018
Centre for Biomedical Network Research on Rare Diseases
2014-2018
Instituto de Salud Carlos III
2017-2018
Universidad Autónoma de Madrid
2017-2018
Hospital Universitario Fundación Jiménez Díaz
2011-2018
Instituto de Investigación de Enfermedades Raras
2018
Centro de Investigación Biomédica en Red
2014-2018
Generalized lymphatic anomaly (GLA) is a vascular disorder characterized by diffuse or multifocal malformations (LMs). The etiology of GLA poorly understood. We identified four distinct somatic PIK3CA variants (Glu542Lys, Gln546Lys, His1047Arg, and His1047Leu) in tissue samples from five out nine patients with GLA. These same occur PIK3CA-related overgrowth spectrum cause hyperactivation the PI3K-AKT-mTOR pathway. found that mTOR inhibitor, rapamycin, prevented hyperplasia dysfunction mice...
Abstract Background Alpha-1 antitrypsin deficiency (AATD) is a rare disease that associated with an increased risk of pulmonary emphysema. The European AATD Research Collaboration (EARCO) international registry was founded the objective characterising individuals and investigating their natural history. Methods EARCO international, observational prospective study AATD, defined as AAT serum levels < 11 μM and/or proteinase inhibitor genotypes PI*ZZ, PI*SZ compound heterozygotes or...
With the aim of providing better clinical characterisation patients with α 1 -antitrypsin deficiency (AATD), we analysed data adult severe AATD enrolled in Spanish and Italian national registries. We assessed 745 subjects, 416 whom were registry 329 registry. 57.2% male 64.9% smokers or former a mean± sd age 49.9±13.8 years. Most (81.2%) index cases, mainly having PI*ZZ genotype (73.4%), diagnostic delay was 9.0±12.1 Patients chronic bronchitis younger, had preserved lung function lower...
Background The Spanish registry of α 1 -antitrypsin deficiency (AATD) integrated in the European Alpha-1 Research Collaboration (EARCO) provides information about characteristics patients, particular those with PI*SZ genotype, which is frequent Spain. Method Individuals severe AATD defined as proteinase inhibitor (PI) genotypes PI*ZZ, and other rare deficient variants were included from February 1, 2020, to 2022. analysis focused on a comparison PI*ZZ patients. Results 409 patients (53.8%...
Abstract Background Although bronchiectasis has been recognised as a feature of some patients with Alpha1-Antitrypsin deficiency the prevalence and characteristics are not widely known. We wished to determine patient characteristics. The first cohort recruited EARCO (European Alpha1 Research Collaboration) International Registry data base by end 2021 was analysed for radiological evidence both emphysema well baseline demographic features. Results Of 505 PiZZ genotype entered into 418 (82.8%)...
purpose. Choroideremia (CHM) is an X-linked ophthalmic disease. The gene associated with CHM (REP-1) encodes a ubiquitously expressed protein that indispensable for the posttranslational activation of retina-specific Rab protein. Different mutations, including large genomic rearrangements involving REP-1 gene, are responsible CHM, but they all cause to be truncated or absent. authors screened 20 Spanish families clinical diagnoses determine molecular methods. First, performed haplotype...
Climate change is currently one of agriculture’s main problems in achieving sustainability. It causes drought, increased rainfall, and diseases, causing a decrease food production. In order to combat these problems, Agricultural Big Data contributes with tools that improve the understanding complex, multivariate, unpredictable agricultural ecosystems through collection, storage, processing, analysis vast amounts data from diverse heterogeneous sources. This research aims discuss advancement...