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  • 1
    ISSN: 1432-1076
    Keywords: Antigen handling ; Coeliac disease ; Family study ; Fluorescent antibody technique ; Gliadin antibodies ; Reticulin antibodies ; Monozygotic twins
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The familial occurence of coeliac disease is well known. In every day practice, however, diagnosis of coeliac disease is not frequently established in the relatives of patients. As it did not seem practicable to biopsy all relatives, several tests were investigated in selecting individuals for intestinal biopsy in a family study. 55 index patients out of 54 families with biopsy-proven coeliac disease and 165 of their first grade relatives underwent the study. Immunofluorescent gliadin and reticulin antibodies were determined, and additionally laboratory tests were done. These included haemoglobin, serum iron, serum protein and albumin, serum immunoglobulins and blood xylose. The immunofluorescent gliadin antibody assay using red cells coated with gliadin proved to be superior to the other methods. False negatives came to 8.7%, and false positives 10.9%, in healthy relatives. Gliadin antibodies could be found five times more frequently in healthy relatives than in normal controls. This finding indicates a genetic predisposition to the formation of gliadin antibodies in coeliac families. Ninety-one percent of index coeliac children had IgG-antigliadin in their sera while on a normal diet. During gluten-free diet, and in adult patients, results were less convincing. All relatives with antigliadin titres greater than 8 have been biopsied, and all with titres above 64 were shown to have coeliac disease. The prevalence of coeliac disease found in this study was 5.5%. In the active state of coeliac disease in children, gliadin antibody determination thus is a valuable diagnostic tool but in selecting relatives for biopsy there are limitations to the wide application of the test. Although reticulin antibodies are more specific for coeliac disease than gliadin antibodies, determination of antireticulin proved to be much less sensitive.
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Two adult sisters affected by cystic fibrosis were both shown to carry two different alterations within exon 11 of the CFTR gene, the nonsense mutation G542X and the missense mutation G551D. Both patients exhibit a relatively benign clinical course. In the described patients, G542X functions as a “mild” allele and is, in this respect, dominant to the “severe” G551D.
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  • 3
    ISSN: 1432-1076
    Keywords: Hereditary fructose intolerance ; Aldolase activity ; Small intestine ; Malabsorption states
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Determination of aldolase activity in intestinal biopsy material offers a diagnostic alternative to liver biopsy in hereditary fructose intolerance (HFI). This diagnostic method could be validated by analysis of intestinal biopsies from eight patients with HFI. With the substrate fructose-1-phosphate (fru-1-p) we found 0.3±0.3 (x±SD) U/g of protein, with the substrate fructose-1,6-diphosphate (fru-1,6-p) 3.8±2.7 U/g of protein were measured. These results differ clearly from control activities (substrate = fru-1-p: 7.4±1.9 U/g of protein; substrate=fru-1,6-p: 13.9±4.3 U/g of protein). As the performance of the intestinal biopsy—in contrast to the liver biopsy—is virtually free of complications, it is recommended as the diagnostic method of choice in this disease. Aldolase activities were also determined in 40 intestinal biopsies from children with different malabsorption states: celiac disease (n=13), cow's milk protein intolerance (n=9), postinfectious syndrome (n=10), giardiasis (n=8). The activities differed clearly from our results in hereditary fructose intolerance. In celiac disease, cow's milk protein intolerance and postinfectious syndrome characteristic activity patterns were obtained: activities with fru-1,6-p were increased (celiac disease 17.2±5.7 U/g of protein; cow's milk protein intolerance 19.5±7.0 U/g of protein) or in the normal range (postinfectious syndrome 14.0±3.1 U/g or protein); activities with fru-1-p were decreased (celiac disease 2.3±1.0 U/g of protein; cow's milk protein intolerance 3.4±1.3 U/g of protein; postinfectious syndrome 5.0±0.8 U/g of protein). These results are discussed on the basis of aldolase isoenzyme distribution in the small intestinal mucosa.
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  • 4
    ISSN: 1432-1076
    Keywords: Cystic fibrosis ; Ambroxol ; N-acetylcysteine ; Pulmonary function test
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The therapeutic efficacy of oral N-acetylcysteine (NAC) and ambroxol as compared with the effect of placebos was studied in 36 cystic fibrosis (CF) patients with mild to moderate pulmonary disease. The patients were randomly assigned to one of three regimens, matched on the basis of age and Chrispin-Norman scores. The trial was conducted over a period of 12 weeks. Patients were assessed clinically and by extensive pulmonary function techniques (body-plethysmography, maximal expiratory flow-volume curves, trapped air determination). Although no clinical differences could be observed between the three groups, significant impairment in the placebo group was found for trapped air and FEV1 when compared to the active groups, suggesting a therapeutic effect of ambroxol and NAC in CF.
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  • 5
    ISSN: 1432-1076
    Keywords: Tobramycin ; Pulmonary disease ; Pseudomonas aeruginosa ; Cystic fibrosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To nine cystic fibrosis patients with chronic bronchopulmonary infection of severely damaged lungs invaded by Pseudomonas aeruginosa, eleven courses of prolonged tobramycin treatment (5 mg/kg/day) for four to 16 weeks were administered. Pulmonary symptoms improved and a better quality of life was achieved in all but one patient. Objective parameters (chest X-ray, pulmonary function tests) changed to a lesser extent. In only one patient was Pseudomonas eradicated from the sputum but reappeared after discontinuation of therapy. In the rest of the patients Pseudomonas was significantly suppressed or replaced by other pathogens. Four patients showed rises of antibody titres to Candida and two to Aspergillus fumigatus. No nephrotoxic side effects were observed, but vestibular function was reversibly impaired in one patient without corresponding clinical symptoms. No bacterial resistance to tobramycin was observed during therapy.
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  • 6
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    ISSN: 1365-2222
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Thirty-one patients with cystic fibrosis (CF) were thoroughly evaluated for allergy. This included a clinical history, skin tests with twenty-three allergens and bronchial provocation with inhaled allergens and histamine. The bronchial response was measured by whole body plethysmography. Of the patients studied, 40% 0 showed a bronchoconstrictor response to inhaled allergens, despite the fact that none had reported asthma in their clinical history. Strong skin test reactions (3+ and 4+) and weak reactions (2+) were associated with 65% and 4% of positive reactions of the airways respectively. Weak skin reactions with Aspergillus fumigatus, however, were associated with 43% of positive bronchial challenges. In addition to Aspergillus, the mould Alternaria tenuis was found to be an important allergen causing a bronchial response in CF patients. There was no correlation between the thresholds of bronchial sensitivity to allergen and histamine. suggesting that the pathogenetic mechanisms of CF and bronchial asthma are different.
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  • 7
    ISSN: 1439-0973
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die Ciprofloxacinkinetik wurde an Patienten mit zystischer Fibrose (CF) und gesunden Probanden nach oraler Gabe von 500 mg sowie 1000 mg untersucht. Die Serumkinetik und Harnwiederfindungsrate wurden bestimmt. Da das Körpergewicht der CF-Patienten einerseits und gesunden Probanden andererseits signifikant unterschiedlich ist, wurden die kinetischen Parameter auf der Basis einer konstanten relativen Dosis in mg/kg Körpergewicht berechnet. Weder die Serumkinetik noch Urinwiederfindungsrate waren in den beiden Gruppen signifikant unterschiedlich. Die standardisierte Fläche unter der Serumspiegel-versus Zeitkurve betrug 1,1 bis 1,4 mg × h/l, die Eliminationshalbwertszeit schwankte zwischen 4,4 und 5,1 h, und die 24-Std.-Harnwiederfindungsrate belief sich auf 35 bis 41% der verabreichten Dosis. Die Serumkonzentrationen waren linear proportional zu den verabreichten Dosen. Die Sputumkonzentrationen wurden in CF-Patienten bestimmt. Wiederum waren die Sputumkonzentrationen linear proportional zur verabreichten Dosis und lagen im gleichen Konzentrationsbereich wie auch die Serumkonzentrationen. Somit ist die Ciprofloxacinkinetik in CF-Patienten im Vergleich zu gesunden Probanden nicht verändert.
    Notes: Summary The pharmacokinetics of ciprofloxacin were studied in cystic fibrosis patients and healthy volunteers following oral administration of 500 mg and 1000 mg. Serum kinetics as well as urinary recovery were monitored. As the body weights of cystic fibrosis patients and the healthy volunteers differed significantly, kinetic parameters were calculated on the basis of a constant relative dose in mg/kg body weight. Neither serum kinetics nor urinary recovery differed significantly between the two groups, as indicated by the serum concentration versus time curves ranging from 1.1 to 1.4 mg × h/l, the elimination half-life of 4.4 to 5.1 h and the 24 h urinary recovery which amounted to 35% to 41% of the dose administered. Serum concentrations were linearly proportional to the doses administered. Sputum concentrations were monitored in cystic fibrosis patients. Again, ciprofloxacin sputum levels were linearly proportional to the doses and were within the same range as serum concentrations. Thus, ciprofloxacin kinetics are not altered in cystic fibrosis patients as compared to healthy volunteers.
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