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Query: UMLS:C0037090 (Respiratory symptoms)
 467 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A better knowledge of cystic fibrosis of the pancreas has contributed to raise the detection of cystic fibrosis in adults. We describe nine Mexican patients older than 15 years with cystic fibrosis. Respiratory symptoms were predominant and they were secondary to bronchiectasis. All patients were infected by mucoid Pseudomona aeruginosa and in some cases, the finding of this microorganism in sputum suggested the diagnosis. In Mexican population the cystyc fibrosis of the pancreas can be found in adult patients, and it should be considered in the differential diagnosis of chronic respiratory diseases in adults.
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PMID:[Pancreatic cystic fibrosis in Mexicans over 15 years of age]. 212 56

Respiratory symptoms in cystic fibrosis are both local and systemic. The local symptoms include cough, sputum, wheezing, haemoptysis and breathlessness, while systemic symptoms of malaise and fever occur with pulmonary infection. There are also interactions between respiratory and gastrointestinal systems in producing symptoms of malaise and weakness and these also contribute to the secondary psychological and social problems that a number of patients with cystic fibrosis experience. These local respiratory symptoms can be attributed in part to lung damage, but are also a manifestation of the CF defect itself. Similarly, lung damage, allergy, haemodynamic and nutritional changes all contribute to the symptom of breathlessness. Further improvement in symptoms in the future will come not only from limiting the lung damage but also from therapy aimed at reversing the CF defect itself.
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PMID:Cystic fibrosis--from lung damage to symptoms. 270 25

Cystic fibrosis is the most frequently occurring lethal hereditary disorder among whites. Many persons with cystic fibrosis now live into their adult years, and some cases are not diagnosed until adulthood. As a result, the disorder is no longer rare in adults. Respiratory symptoms and findings usually predominate, but a host of other complications that arise in adults also present therapeutic challenges to physicians. While no cure is yet available for cystic fibrosis, genetic counseling can help couples determine their relative risk for parenting a child with the disorder.
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PMID:Cystic fibrosis. A disorder of adults too! 398 25

Respiratory symptoms, recurrent infectious exacerbations, and progressive lung destruction in cystic fibrosis can be attributed to bacterial persistence and the accumulation of viscous purulent secretions in the airways. Purulent secretions contain high concentrations of extracellular DNA, a viscous material released by leukocytes. To evaluate the potential clinical utility of recombinant human DNase I (rhDNase or Pulmozyme), the human enzyme was cloned, sequenced, and expressed. In in vitro studies, rhDNase has been shown to reduce the viscoelasticity, reduce the adhesiveness, and improve the mucociliary transportability of cystic fibrosis sputum. In short-term phase 1 and phase 2 clinical trials, rhDNase has been shown to be safely tolerated and to improve the FEV1, FVC, and symptoms of dyspnea. A long-term placebo-controlled phase 3 study was performed in 968 adults and children (> or = 5 years) with cystic fibrosis to determine the effect of rhDNase on the risk of respiratory exacerbations requiring parenteral antibiotics and on the FEV1. Compared with placebo-treated patients, patients treated with rhDNase once daily or twice daily experienced a reduced risk of respiratory exacerbations by 28% (p = 0.04) and 37% (p = 0.01), respectively, and had a mean improvement in FEV1 of 5.8% (p < 0.01) and 5.6% (p < 0.01), respectively. Compared with placebo-treated patients, patients treated with rhDNase spent 2.7 fewer days receiving parenteral antibiotics (p = 0.04) and spent 1.3 fewer days in the hospital (p = 0.06) over the 6-month treatment period. Inhalation of rhDNase did not cause anaphylaxis but was associated with upper airway symptoms (ie, voice alteration, hoarseness, pharyngitis) that were generally mild and transient. In conclusion, aerosol administration of rhDNase was safely tolerated, reduced the risk of infectious exacerbations requiring parenteral antibiotics, and improved pulmonary function and patient well-being.
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PMID:Aerosolized recombinant human DNase I for the treatment of cystic fibrosis. 784 16

The purpose of this paper is to give a brief overview of cystic fibrosis; its pathogenesis, diagnosis, treatment and prognosis. Cystic fibrosis is an autosomal recessive disorder, which is caused by a mutation in the CFTR protein, a chloride channel in epithelial cell membranes. More than 1500 mutations are known. The incidence is 1/2.000-3.000 in nations of European origin. The CFTR mutation influences the secretion and absorption by epithelium in various organs. The consequences are different depending on the organ, but there is a global tendency for obstruction of secretory glands. The primary organs affected are the respiratory tract, pancreas, gastrointestinal tract and sweat glands. The disease is most often diagnosed during the first months of life, with a common presentation of salty tasting sweat, failure to thrive and diverse faecal problems. Possible diagnostic tools are sweat test and DNA testing. Respiratory symptoms cause most morbidity, with chronic infections and an exaggerated inflammatory response. Abnormal water and electrolyte composition leads to thicker respiratory secretions compared to that of healthy individuals. The interaction of pathogens with the epithelium causes S. aureus, and later P. aeuruginosa, to transform into a mucoid form which is much more difficult to eradicate with antibiotics, making them a significant part of the disease burden of cystic fibrosis. The main respiratory medications are antibiotics, bronchodilators, mucolytic agents and anti-inflammatory agents. 90% of cystic fibrosis patients have pancreas insufficiency which is treated with pancreas enzymes. A good nutritional status is a necessary basis for any further treatment. The prognosis of cystic fibrosis patients has improved greatly over the last few decades in parallel with increased knowledge, and the average survival is currently 37 years in the United States.
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PMID:[Cystic fibrosis--review]. 1918 19

A case of a specialist senior non-commissioned officer with cystic fibrosis (CF) is described. Partial expression of the CF trait is well known and sporadic cases are detected from time to time at recruitment, during recruit training and service. Respiratory symptoms may be mis-diagnosed as self-limiting asthma until a sweat chloride or other specific test for CF is performed.
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PMID:Cystic fibrosis compatible with a full term army engagement. 2254 80

Cystic fibrosis (CF) is a life-threatening and common genetic disorder. Cystic fibrosis newborn screening (CF NBS) has been implemented in many countries over the last 30 years, becoming a widely accepted public health strategy in economically developed countries. False-negative (FN) cases can occur after CF NBS, with the number depending on the method. We evaluated the delayed diagnosis of CF, identifying the patients who had false-negative CF NBS results over 26 years (1992-2018) in Tuscany, Italy. The introduction of DNA analysis to the newborn screening protocol improved the sensitivity of the test and reduced the FNs. Our experience showed that, overall, at least 8.7% of cases of CF received FNs (18 cases) and were diagnosed later, with an average age of 6.6 years (range: 4 months to 22 years). Respiratory symptoms and salt-loss syndrome (metabolic hypochloremic alkalosis) are suggestive symptoms of CF and were commons events in FN patients. In Tuscany, a region with a high CFTR allelic heterogeneity, the salt-loss syndrome was a common event in FNs. Therefore, we provided evidence to support the claim that the FN patients had CFTR mutations rarer compared with the true-positive cases. We underline the importance of vigilance toward clinical manifestations suggestive of CF on the part of the primary care providers and hospital physicians in a region with an efficient newborn screening program.
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PMID:Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy. 3263 Feb 27