Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019079 (hemoptysis)
 6,129 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cystic fibrosis, an autosomal recessive disorder, is the most common genetic disease of Caucasians. One in 25 Caucasians are carriers of the gene. The gene is found far less commonly in other races. There are over 230 different alleles of the gene, located on the 7th chromosome. The gene encodes for a membrane protein that functions as an ion channel. The survival of cystic fibrosis patients has been gradually increasing, with a mean survival in 1990 of 28 years. If the current trend of improved survival continues, it is estimated that half of cystic fibrosis patients will be over 18 years old by 1996. Disease is found in many organs including the lungs, sinuses, pancreas, gastrointestinal tract, hepatobiliary system, sweat glands and reproductive tract. The majority of patients die of pulmonary disease. The airways become chronically colonized with bacteria that cannot be eradicated, leading to bronchitis, bronchiectasis, and finally, pulmonary fibrosis with respiratory failure. The pulmonary disease may be complicated by massive hemoptysis and pneumothorax. Patient survival rates have increased because of antibiotic therapy and improved nutrition with pancreatic enzyme replacements. New treatments for the pulmonary disease are under clinical trial and include antiproteases, amiloride, a sodium channel blocker, and DNase. The insertion of the normal cystic fibrosis allele into an animal model using a modified adenovirus with effective transcription suggests that gene therapy may be possible in the future, but safety and technical problems have to be addressed.
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PMID:Cystic fibrosis. 842 40

(Rh-DNase) and/or hydration (hypertonic saline) nebulisations, Moreover, treatment with inhaled antibiotics is indicated (tobramycin, colistine or aztreonam lysine) for chronic lung infection with Pseudomonas aeruginosa (PA). The treatment regimen also includes bronchodilators for bronchospasms and azithromycin. Regular physical activity is recommended. A treatment potentiating the CFTR protein, ivacaftor, is now indicated for patients with a class 3 mutation. Initial bronchial infection with PA must be treated as soon as possible in order to eradicate the pathogen. Pulmonary exacerbations require antibiotic courses, either orally or intravenously for PA infection. Complications require hospitalisation, with thoracic chest tube placement for a pneumothorax or bronchial artery embolisation for massive hemoptysis. Oxygen therapy and non-invasive ventilation with a nasal mask become necessary when respiratory insufficiency progresses, justifying the initiation of the lung transplant process. Lung disease affects the prognosis of cystic fibrosis, therefore its management in cystic fibrosis centres is of utmost importance. Maintenance treatment mainly relies on daily chest physiotherapy, which can be facilitated by mucolytic
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PMID:[CYSTIC FIBROSIS: CARE OF THE LUNG DISEASE]. 2674 16

Rheumatic pneumonia is a pulmonary complication of rheumatic fever, often with grave outcomes. It has been described sporadically in literature, most recently a decade ago. Here, we describe a case of a 12-year-old Native American girl presenting with chest pain, gastrointestinal complaints, and frequent nosebleeds. After the initial diagnosis with acute pericarditis, she was found to meet diagnostic criteria for rheumatic fever. Revised Jones criteria met included significantly elevated streptolysin O antibody and anti-DNase B, carditis, arthralgia, fever, and elevated inflammatory markers. Findings complicating the diagnosis were an elevated antinuclear antigen with a family history of systemic lupus erythematosus (SLE), hemoptysis, and a chest CT finding of right lower lobe alveolar hemorrhage as well as right-sided mediastinal adenopathy. The patient was discharged on day nine of admission after a course of high-dose methylprednisolone with prednisone taper, furosemide, enalapril, naproxen, monthly penicillin G injections, and multidisciplinary outpatient follow-up. A repeat chest CT scan three months later showed significant improvement. The pulmonary findings described in our patient are consistent with prior reports of rheumatic pneumonia, however, most prior cases described did not include high-resolution imaging. Our patient recovered well aside from complications secondary to mitral regurgitation, unlike many patients seen in our literature search who died due to early or later complications of pulmonary disease. Although acute rheumatic fever, and its pulmonary complications, is significantly less common than it once was, it remains a disease entity that should remain on the differential for multisystem rheumatic complaints.
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PMID:Pulmonary Involvement in Acute Rheumatic Fever: A Case Report and Literature Review. 3231 36