Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020440 (hypercapnia)
 7,939 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nineteen patients with cystic fibrosis were seen in the I Department of Tuberculosis and Lung Diseases during 3.5 years. There were 12 (63%) female, and 7 male, aged from 16 to 35 years (mean 23.2). Most patients were diagnosed in childhood, but 4 were diagnosed in their early adulthood. The diagnosis was confirmed by positive chloride sweat test in all cases. Molecular DNA analyses were performed in 16 cases. In 9 (56%) cases two mutations in the CFTR gene were identified. In 5 cases one mutation was identified. All patients had bronchiectases confirmed by CT. Spirometry showed lung function impairment with predominantly obstructive pattern. Mean VC was 2.57l, mean FEVI was 1.66l. In 7 (37%) cases FEVI was lower then 30% of predictive value. Hypoxemia was found in 11 (58%) cases and hypercapnia in 3 (16%) cases. Sputum cultures were positive for mucoid P. aeruginosa in 12 (63%) cases, for Staph. aureus in 16 (84%) cases. Persistent colonisation with nontuberculous mycobacteria was found in 2 (10.5%) cases. Aspergillus fumigatus was identified in sputum cultures in 2 subjects who had also positive precipitation test. Diabetes mellitus was diagnosed in 2 cases. Meconium ileus equivalent was seen in 1 case. Pneumothorax was seen in 1 case. One patient died in the endstage of the illness.
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PMID:[Cystic fibrosis in adults--clinical aspects]. 948 15

Numerous epidemiologic studies have indicated that there is a genetic basis to COPD. This result suggests that COPD develops in genetically susceptible individuals after sufficient exposure to cigarette smoke. At present, most of the genes that contribute to the genetic component to COPD are unknown. alpha 1-Antitrypsin deficiency is clearly a risk factor for COPD, but the other genetic associations with this disease must be considered as tentative. The key to establishing that a gene modifies the risk for a disease is replication of the association in different populations. This is a difficult task, however, because different genetic risk factors may be present in different populations. In addition, these genetic factors may interact with each other and with environmental risk factors, obscuring the effect of the gene on the phenotype. Apart from alpha 1-AT only the GST-M1, VDBP and CFTR genes have been implicated as risk factors in more than one population. Identification of other candidate genes awaits further understanding of the pathogenesis of COPD at the molecular level. There is good evidence that the propensity to smoke cigarettes and the likelihood of quitting smoking are influenced by genetic factors. This information may be useful in efforts directed toward cessation; however, most of the genetic studies so far have shown a rather small effect. The responses to hypoxia and hypercapnia also seem to be influenced by genetic factors. Identification of the genes involved could yield important insights into the pathogenesis of COPD and may highlight new targets for therapeutic intervention for this debilitating disease.
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PMID:Genetic risk factors for chronic obstructive pulmonary disease. 1119 75

Genetic mutations of sporadic hemiplegic migraine (SHM) are mostly unknown. SHM pathophysiology relies on cortical spreading depression (CSD), which might be responsible for ischemic brain infarction. Cystic fibrosis (CF) is caused by a monogenic mutation of the chlorine transmembrane conductance regulator (CFTR), possibly altering brain excitability. We describe the case of a patient with CF, who had a migrainous stroke during an SHM attack. A 32-year-old Caucasian male was diagnosed with CF, with heterozygotic delta F508/unknown CFTR mutation. The patient experiences bouts of coughing sometimes triggering SHM attacks with visual phosphenes, aphasia, right-sided paresthesia, and hemiparesis. He had a 48-hour hemiparesis triggered by a bout of coughing with hemoptysis, loss of consciousness, and severe hypoxia-hypercapnia. MRI demonstrated transient diffusion hyperintensity in the left frontal-parietal-occipital regions resulting in a permanent infarction in the primary motor area. Later, a brain perfusion SPECT showed persistent diffuse hypoperfusion in the territories involved in diffusion-weighted imaging alteration. Migrainous infarction, depending on the co-occurrence of 2 strictly related phenomena, CSD and hypoxia, appears to be the most plausible explanation. Brain SPECT hypoperfusion suggests a more extensive permanent neuronal loss in territories affected by aura. CF may be then a risk factor for hemiplegic migraine and stroke since bouts of coughing can facilitate brain hypoxia, triggering auras.
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PMID:Migrainous Infarction in a Patient With Sporadic Hemiplegic Migraine and Cystic Fibrosis: A 99mTc-HMPAO Brain SPECT Study. 3062 50