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German cystic fibrosis patients were screened for mutations in exon 21 of the cystic fibrosis transmembrane conductance regulator gene by a non-radioactive variation of the single-strand conformation polymorphism technique. Asymetrie polymerase chain reaction amplification was used to produce single strands of exon-containing genomic sequences that were(More)
We have measured the frequency of the ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its association with cystic fibrosis (CF)-linked marker haplotypes in the German population. Based on the analysis of 400 CF chromosomes, the frequency of the ΔF508 mutation is estimated to be 77.3%, the vast majority being(More)
BACKGROUND Health-related and disease-specific quality of life (HRQoL) has been increasingly valued as relevant clinical parameter in cystic fibrosis (CF) clinical care and clinical trials. HRQoL measures should assess - among other domains - daily functioning from a patient's perspective. However, validation studies for the most frequently used HRQoL(More)
Patients with cystic fibrosis (CF) have recently been deemed highly susceptible for bacterial intestinal overgrowth (BIO). We aimed to define the prevalence of BIO in children with CF by applying the H2-glucose breath test. Forty children with CF and ten healthy children received 1 g/kg D-glucose orally. Breath samples for H2 content (ppm) were collected(More)
AIM To evaluate the safety and efficacy of Vitamin E in children with chronic hepatitis B. METHODS We randomly assigned patients with chronic hepatitis B, positive for hepatitis B e antigen (HBeAg), to receive either Vitamin E or placebo once daily for 6 mo in a 3:1 ratio and double-blind manner. The primary end point was HBeAg seroconversion, defined as(More)
Little is known about the long-term persistence of positive effects induced by a physical conditioning program. Therefore, this study determined the effects of a 6-months conditioning program on peak oxygen uptake (primary outcome), and other markers of fitness, physical activity, anthropometry, lung function, and quality of life (secondary outcomes) 18 and(More)
The aim of this study was to investigate whether the parenchymal lung damage in patients suffering from cystic fibrosis (CF) can be equivalently quantified by the Chrispin-Norman (CN) scores determined with low-field magnetic resonance imaging (MRI) and conventional chest radiography (CXR). Both scores were correlated with pulmonary function tests (PFT) and(More)
We investigated the molecular basis of hereditary fructose intolerance (HFI) in 80 patients from 72 families by means of a PCR-based mutation screening strategy, consisting of heteroduplex analysis, restriction enzyme digest, DNA single strand electrophoresis, and direct sequencing. For a subset of patients mutation screening with DHPLC was established(More)
PURPOSE Development of pulmonary arterial hypertension (PH) is a common problem in the course of patients suffering from cystic fibrosis (CF). This study was performed to evaluate MRI based flow measurements (MR(venc); Velocity ENCoding) to detect signs of an evolving PH in patients suffering from CF. MATERIALS AND METHODS 48 patients (median age: 16(More)
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