Rare Respiratory Diseases: A Personal and a Public Health Problem
Dasí, Francisco (editor)
Dear Colleagues, A rare disease, also known as an orphan disease, is any disease that affects a small percentage of the population. Although definitions vary from continent to continent, according to the European Union, rare diseases are those with a prevalence of less than 1 in 2000 people. Rare diseases are, in general, chronic, debilitating diseases, which in many cases threaten patients’ lives. It is estimated that 1–2 million people in the European Union are affected by a rare respiratory disease, which is a public health problem. Due to the low prevalence and severity of many of these diseases, whose symptoms often initially manifest in childhood, combined efforts are needed to improve our knowledge of the pathophysiology of these diseases that will lead to the development of new, more effective treatments. Therefore, since rare respiratory diseases represent an important field in medicine, we propose this Special Issue to promote the dissemination of the latest advances in basic and clinical research in these diseases. Prof. Dr. Francisco Dasí Guest Editor
Keywordsstandard diagnosis; reference centres; clinical presentation; cilia; primary ciliary dyskinesia; alpha-1 antitrypsin deficiency; rare respiratory diseases; Mycobacterium avium; Mycobacterium intracellulare; nodular bronchiectasis; non-tuberculous mycobacteria; pulmonary aspergillosis; rare pulmonary disease; miRNA expression; exhaled breath condensate; sputum; severity; pulmonary exacerbation; alpha1 antitrypsin deficiency; augmentation therapy; replacement therapy; rare diseases; gene therapy; alpha-1-antitrypsin deficit; cystic fibrosis; neonatal respiratory distress; laterality defect; orphan diseases; PCD; immunofluorescence; antibody; ALI culture; bio-resource; primary nasal epithelium; diagnostics; Alpha-1 antitrypsin deficiency; liver disease; glutamate-oxaloacetate transaminase; glutamate-pyruvate transaminase; gamma-glutamyl transpeptidase; resilience; active lifestyle; stress levels; infection control measure; self-quarantine; flow cytometry; nasal epithelium; oxidative stress; reactive oxygen species; endoplasmic reticulum stress; antioxidant therapies; idiopathic pulmonary fibrosis; chronic obstructive pulmonary disease; bronchiectasis; asthma; emphysema; alpha1-antitrypsin deficiency; transient elastography; n/a
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Publication date and placeBasel, 2022