A5015259923- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- BRCA gene mutations in cancer
- Mitochondrial Function and Pathology
- Occupational and environmental lung diseases
- Eosinophilic Disorders and Syndromes
- Genetic factors in colorectal cancer
- Trace Elements in Health
- Heavy Metal Exposure and Toxicity
- Tissue Engineering and Regenerative Medicine
- Genetics, Aging, and Longevity in Model Organisms
- Muscle Physiology and Disorders
- Eosinophilic Esophagitis
- Cystic Fibrosis Research Advances
- Biomedical and Engineering Education
- Amyotrophic Lateral Sclerosis Research
- Neurological disorders and treatments
- Inflammasome and immune disorders
- Genomic variations and chromosomal abnormalities
Instituto de Investigación de Enfermedades Raras
2017-2024
Instituto de Salud Carlos III
2017-2024
Many people living with rare disease (RD) report a difficult diagnostic process from the symptom onset until they obtain definitive diagnosis. The aim of this study was thus to ascertain in RDs, and explore determinants related having wait for more than one year (defined as “diagnostic delay”). We conducted case–control study, using purpose-designed form Spanish Rare Diseases Patient Registry data-collection purposes. A descriptive analysis performed multivariate backward logistic regression...
Abstract Background According to the International Rare Diseases Research Consortium (IRDiRC), a known rare disease (RD) should be diagnosable within year. This study sought: firstly, ascertain how long it takes obtain diagnosis of RD in Spain, along with its associated time trend; and secondly, identify measure diagnostic delay (defined by IRDiRC as any period exceeding year) reference characteristics RDs persons affected them. Methods Using data sourced from Spanish Patient Registry, we...
Over half of all persons with rare diseases (RDs) in Spain experience diagnostic delay (DD) but little is known about its consequences. This study therefore aimed to analyze the psychological impact obtaining a diagnosis an RD, and ascertain what social determinants are influenced personal consequences are, according whether or not patients experienced DD. Data were obtained from purpose-designed form completed by registered at Spanish Rare Diseases Patient Registry. The following performed:...
The etiology of motor neuron disease (MND) is still unknown. aims this study were to: (1) analyze MND mortality at a fine-grained level; and (2) explore associations heavy metals released into Spanish river basins. deaths extracted from the nationwide registry (2007–2016). Standardized ratios (SMRs) for estimated municipal level. Sites that emitted quantities above regulatory thresholds obtained European Pollutant Release Transfer Register database (2007–2015). relative risks non-exposed...
Familial Mediterranean Fever (FMF) is a rare, hereditary, auto-inflammatory disease. The aims of this study were to explore the time trend and geographical distribution hospitalizations in Spain from 2008 2015. We identified FMF Spanish Minimum Basic Data Set at hospital discharge, using ICD-9-CM code 277.31. Age-specific age-adjusted hospitalization rates calculated. average percentage change analyzed Joinpoint regression. Standardized morbidity ratios calculated mapped by province. A total...
<b><i>Background:</i></b> Huntington's disease (HD) is a progressive neurodegenerative condition characterized by chorea, dystonia, behavioral disturbances and cognitive decline. The aim of this study to assess temporal spatial changes on mortality attributable HD over 30 years in Spain. <b><i>Methods:</i></b> data were extracted from the nationwide registry for period 1984-2013. Annual 5-year gender- age-specific rates adjusted standard...
Toxic oil syndrome (TOS) is a multisystemic disease due to massive intoxication that occurred in Spain 1981 affecting >20 000 persons. This study aims evaluate the quality of life survivors' cohort after 38 years follow-up using Short Form 36 (SF-36) Health Survey.One thousand patients were selected among 14 084 alive TOS members 2018 stratified random sampling method. Stratification was performed by 2017 self-rated health status reported patients. SF-36 results compared directly and as...
Muscular dystrophies (MD) are a group of rare hereditary degenerative diseases. Our aim was to analyze the mortality pattern in Spain from 1981 2016 assess temporal trend and discern possible geographic differences using population-based data. Annual deaths related MD were obtained National Statistics Institute with codes 359.1 ICD-9 (1981-1998) G71.0 ICD-10 (1999-2016). Age-adjusted rates calculated changes trends identified. The standardized ratios (SMR) their respective 95% confidence...
Silicosis is an occupational respiratory disease linked to silica dust inhalation. The main driver was traditional coal mining, but in recent decades, new sources of exposure have emerged. Our aim this study assess the temporal and spatial distribution mortality due over a 22-year period Spain.