43 research outputs found
Comparison of the modified gel disc electrophoresis of amniotic fluid cholinesterase with other methods in the prenatal diagnosis of neural tube defects
Referat Hinweise auf Schwangerschaftsgefährdung aus den Ergebnissen von Spezialuntersuchungen: Fruchtwasseruntersuchung
Quantitative variation in cystic fibrosis-associated proteins in cystic fibrosis patients, carriers, and controls
The global intellectual property landscape of induced pluripotent stem cell technologies
Correlation between genotype and phenotype in patients with cystic fibrosis
The members of the Cystic Fibrosis Genotype-Phenotype Consortium are listed in the AppendixBackground. Cystic fibrosis is the most common lethal autosomal recessive disorder among whites. Seventy-two percent of patients with this disease are homozygotes or compound heterozygotes for eight mutations of the cystic fibrosis transmembrane conductance regulator gene on chromosome 7: ΔF 508, G542X, R553X, W1282X, N1303K, 621 + 1G → T, 1717-1G → A, and R117H. We studied the relation between genotype and phenotype in patients from 14 countries. Methods. Each of 399 patients who were compound heterozygotes for ΔF 508 and one other mutation was matched with the ΔF 508 homozygote of the same sex who was the closest in age from the same center. A paired analysis was performed of the following outcome variables: age at diagnosis, sweat chloride concentration, growth percentiles, pulmonary-function values, chest-film score, pseudomonas colonization, nasal polyps, pancreatic sufficiency, pancreatitis, diabetes mellitus, meconium ileus, distal intestinal obstruction syndrome, rectal prolapse, cirrhosis, and gallbladder disease. Results. The compound heterozygotes having the genotype R117H/ΔF 508 clearly differed from the age- and sex-matched ΔF 508 homozygotes: they more often had pancreatic sufficiency (87 percent vs. 4 percent, P<0.001), were older when the diagnosis was first made (mean [±SD] age, 10.2±10.5 vs. 2.5±4.3 years; P = 0.002), and had lower sweat chloride concentrations (80±18 vs. 108±14 mmol per liter, P<0.001). There were no statistically significant differences between ΔF 508 homozygotes and other compound heterozygotes with regard to any variable tested. Conclusions. Prenatal and prognostic counseling for patients with the R117H/ΔF 508 genotype should include the likelihood that they will have long-term pancreatic sufficiency. Patients with the other genotypes should expect the early onset of pancreatic insufficiency. For none of the genotypes studied can predictions be made about the occurrence of common complications or the severity or course of pulmonary disease.link_to_OA_fulltex