Medicina clinica
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Cystic fibrosis is a genetic and multisystemic disease. The main comorbidity in adulthood is respiratory involvement, with the presence of bronchiectasis, chronic bronchial infection and airflow obstruction. ⋯ This novel treatment goes a step further in the management of this disease, it is able to improve the production of defective CFTR protein and increase its expression on the cell surface, thus achieving a better functioning of ion exchange, fluidizing respiratory secretions and reducing airflow obstruction. In addition, there are currently different lines of research aimed at correcting the genetic defect that causes cystic fibrosis.
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Observational Study
Importance of genetic study in elderly patients with transthyretin cardiac amyloidosis.
Cardiac transthyretin amyloidosis (CA-ATTR) is a prevalent disease with age. Genetic study is recommended, even in eldest patients. We aim to analyze the prevalence of hereditary transthyretin amyloidosis (ATTRv) in elderly patients (≥75years) with CA-ATTR and its implications. ⋯ The prevalence of ATTRv in elderly patients with CA-ATTR was 6.5% without observing differential characteristics that allow guiding a selective indication of genetic analysis.
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Observational Study
Eosinophilic gastrointestinal diseases with esophageal involvement: Analysis of 212 patients.
Primary eosinophilic gastrointestinal diseases (EGID) are chronic inflammatory disorders of the gastrointestinal tract with unknown etiology. Features, utility, and evolution are still unknown in screening for EGID in adult patients with eosinophilic esophagitis (EoE). ⋯ EGID rarely coexist with EoE, even when gastrointestinal symptoms are present. These findings advise against routine gastric, duodenal, or colon biopsies in adult EoE patients with gastrointestinal symptoms. Most of the characteristics of EoE do not change due to having EGID except gastrointestinal symptoms, digestive comorbidities, and sensitizations to some foods. The evolution was generally favorable despite intermittent adherence to treatment, especially maintenance.
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Letter Case Reports
Pleural tuberculosis mimicking malignant pleural mesothelioma in 18F-FDG PET/CT.