Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034067 (emphysema)
 11,506 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nutritional status and its relation to respiratory function and respiratory muscle strength were assessed in patients with pulmonary emphysema. Energy metabolism was also examined in order to elucidate the mechanism of their malnutrition. BCAA/AAA ratio of plasma amino acid was positively correlated with FEV1.0%. Resting energy expenditure (REE) was negatively correlated with FEV1.0%, and REE/REEpred ratio was also negatively correlated with BCAA/AAA and PImax. These findings suggest that increased mechanical work load, associated with airway obstruction and reduced respiratory muscle efficiency, contribute to the increased energy expenditure and amino acid imbalance. Oral nutritional supplementation using BCAA enriched-elemental diet was found to be effective, as assessed by nutritional parameters, PImax, D.O.E., and QOL index, in malnourished emphysema patients.
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PMID:[Nutritional assessment and the effect of supplementary oral nutrition in patients with pulmonary emphysema]. 143 21

Resting energy expenditure (REE) was assessed and its relationship to nutritional status, pulmonary function and respiratory muscle function was studied in 25 patients with pulmonary emphysema. The mean value of REE was 1413 +/- 251 Cal and the ratio of REE/REEpred was 1.398 +/- 0.23, suggesting the existence of a hypermetabolic state in these patients. REE/REEpred ratio was inversely correlated with plasma amino acid BCAA/AAA ratio and body muscle mass; and PImax. REE was inversely correlated with FEV1.0%. REE in the patient subgroup with severe hyperinflation (%RV > or = 200) was significantly higher than that in the subgroup with moderate hyperinflation. Malnourished patients showed significantly more severe hyperinflation than well-nourished patients. These findings suggest that augmented REE contributes to malnutrition in patients with emphysema, and that the increase in REE was related to the increase in mechanical work load on the basis of airway obstruction, respiratory muscle weakness and hyperinflation.
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PMID:[Relation of airway obstruction and respiratory muscle weakness to energy metabolism in pulmonary emphysema]. 144 42

We assessed nutritional status in 30 patients with pulmonary emphysema and 60 healthy controls. The relationship between nutritional status, pulmonary function and respiratory muscle function was also studied. Anthropometric measures, visceral proteins such as PA and RPB, and the Fischer ratio (BCAA/AAA), an index of imbalance of amino acids were significantly lower in the patients. The incidence of moderately malnourished patients with less than 80% of IBW was 40%. The incidence of hyporetinol-binding protein was 40%. 48% of the patients were found to show an amino acid imbalance. These findings suggested that protein-energy malnutrition in association with amino acid imbalance occurred commonly in patients with pulmonary emphysema. FEV1% correlated significantly with some anthropometric indices and the Fischer ratio. Respiratory muscle function, assessed by P1 max, correlated significantly with some anthropometric indices and grasp strength. These results suggested that the degree of airway obstruction and respiratory muscle function was associated with malnutrition characterized by the reduction of the Fischer ratio.
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PMID:[Nutritional assessment of chronic pulmonary emphysema and the significant relation of malnutrition to pulmonary function and respiratory muscle function]. 221 86

A recent association study suggested that the His113 variant of microsomal epoxide hydrolase (mEPHX) may confer a risk for development of emphysema, presumably by increasing susceptibility to smoking injury. Before considering a possible role of this enzyme in pulmonary disease, we attempted to characterize the genetic polymorphism further. The Tyr/His113 polymorphism within exon 3 of mEPHX was initially examined in 62 healthy individuals by conventional methods involving polymerase chain reaction (PCR)-based determination of a restriction fragment length polymorphism (RFLP). Genomic nucleotide sequences, including the polymorphic site and the downstream primer sequence, were further analyzed in 95 unrelated, healthy Japanese volunteers by single-stranded conformation polymorphism (SSCP) analysis and direct sequencing. Genotyping by the first method (PCR-RFLP) revealed that the allelic distribution in our test population apparently deviated from Hardy-Weinberg equilibrium. Sequence analysis showed that a synonymous nucleotide substitution, AAG to AAA (Lys119), was located just within the published primer site. The AAA at codon 119 was present only in alleles with Tyr113, and its frequency reached 0.31 in our panel of 190 Japanese alleles. This substitution potentially hampered PCR amplification because of the nucleotide mismatch, with the result that the frequency of the Tyr113 variation was underestimated. The frequency of His113, a possible emphysema susceptibility allele of the mEPHX gene, was thus overestimated when human DNA samples were genotyped in the conventional way. Depending on the population(s) tested, this anomaly could represent a pitfall for PCR-based association studies.
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PMID:Overestimated frequency of a possible emphysema-susceptibility allele when microsomal epoxide hydrolase is genotyped by the conventional polymerase chain reaction-based method. 1128 20

Alpha1-antitrypsin deficiency (AATD) is a common hereditary disorder associated with high risk of developing pulmonary emphysema early in life and, to a lesser extent, chronic liver disease and cirrhosis. Among Northern Europeans and Northern Americans, more than 95% of individuals with emphysema associated with AATD carry the most frequent AAT deficient gene variants, PI*Z and PI*S. Rare AAT deficient variants account for 2-4% of AATD individuals. We extend the sequence data on AAT by characterizing a novel Null allele detected in 3 subjects: a carrier belonging to an Italian/Egyptian family and 2 members of a family originating from Southern Italy. The mutation raised on a M1 (Ala213) base allele and it is characterized by an A-->T transversion at exon III, nt 218, codon 259 (AAA-->TAA) (GeneBank accession number AY 256958). The transversion results in a premature stop codon (Lys259AAA-->Stop259TAA). The proposed nomenclature of Q0cairo is from the birthplace of the father of first recognized subject. Serum levels and isoelectric focusing of AAT were consistent with the presence of the Null variant.
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PMID:Identification of a novel alpha1-antitrypsin null variant (Q0Cairo). 1590 97