Biomedical subjects
Publications and source records attributed to R Kraemer.
One-hour blood-xylose concentrations after an oral xylose load were measured in children with cystic fibrosis (CF) and healthy controls. The mean of the 1-hour blood-xylose values was significantly increased in the group with CF. The finding confirms an earlier observation by Rolles et al. (1973). Its significance is not at present understood but it suggests that small intestinal function should be further investigated in CF.
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9 out of 204 unselected cystic fibrosis (CF) patients seen at the Department of Pediatrics, University of Berne, Switzerland, over the last 20 years had clinically overt liver disease. In 7 patients liver cirrhosis was demonstrated (3.4%). Focal biliary cirrhosis was the pertinent finding in 3 cases, whereas another 3 showed unspecific nodular cirrhosis. One infant presented with prolonged obstructive jaundice due to partial extrahepatic atresia and delayed passing of meconium. Two other patients had steatosis. A review of the literature dealing with clinical and laboratory findings in CF patients with liver disease is given.
The results of an evaluation over 4 years (1973-1976) of 16,620 BM-tests (Boehringer-Mannheim newborn screening for cystic fibrosis) at 8 hospitals in Switzerland are presented and the data from analysis of albumin, protein and alpha1-antitrypsin concentrations, and on trypsin-inhibitory capacity of the meconia are discussed. 99.5% of the tests were negative. Of the remaining 0.5% BM-positive tests, the diagnosis of cystic fibrosis required confirmation by sweat test and clinical course in 6 cases, or 0.04% of the total collective. The test was false-negative in 2 cases (0.012%), of which one had a primary pulmonary form of cystic fibrosis. The study shows that the BM-test, as screening test for cystic fibrosis, makes it possible to distinguish between "normal" and "suspect". By calculating the ratio albumin to alpha1-antitrypsin, it would be possible to verify the probability of a reliable diagnosis as early as a few days after birth. As before, however, it would be indispensable to confirm the diagnosis of cystic fibrosis by a sweat test with pilocarpin iontophoresis. By consistent screening in all obstetric and pediatric clinics it would be possible to improve early diagnosis still further.
In this study the clinical data and treatment concept in 197 patients with cystic fibrosis, seen during the past 20 years at the University Children's Hospital of Berne (Switzerland), are presented. The results showed that during recent years the median age of survival, the mean age at death and the cumulative survival rates have improved. Furthermore, this study demonstrates that by forming groups of patients with similar age at diagnosis the cumulative survival rate declined in the group with early diagnosis much more markedly than in the group of patients with later diagnosis. Further evaluation of these data revealed that most patients of the former group had a more severe form of cystic fibrosis than the latter group. Since there are different patterns of severity in this disease, it will be necessary to develop staging for the purpose of statistical comparisons.
The influence of alcohol in combination with the preparation Mobiletten on the psycho-physical efficiency was studied in 15 probands by way of various test methods. Under alcohol and, at the same time, Mobiletten influence, the probands showed significantly less efficiency loss in regard to single test parameters than under alcohol without intake of the substance to be tested. The changes were noted in a comparison of the test results obtained at respective points of time as well as those obtained when the blood ethanol concentrations were practically identical. As a cause for these changes, above all the reduced increase rate of blood ethanol levels already described earlier (see 1st communication) was discussed. Any specific sobering effect of the preparation, however, could not be demonstrated.
The survival rates in 204 patients suffering from cystic fibrosis observed between January 1956 and June 1976 were recorded. The patients were divided into five groups according to the symptoms present at the time of diagnosis and survival rates were recorded separately for each group. Survival was less good in the group of patients presenting initially with pulmonary symptoms compared to the group presenting with gastrointestinal symptoms. In the group presenting with meconium ileus survival was poor initially, but later in the course of the disease it became similar to that observed in the other groups. The differences in survival between the different categories occurred during the first two years after diagnosis. The study shows that, on clinical grounds, a severe form of the disease which is characterized by early manifestation of pulmonary symptoms and poor survival can be distinguished from a more protracted form with a better survival. Because of the great inter-individual variability large numbers of patients will have to be evaluated in order to achieve statistically significant results in studies which attempt to compare different therapeutic approaches. If such numbers cannot be reached, it may be necessary to compare only patients who belong to the same symptomatic category.
The interaction of the drug Mobiletten with the pharmacokinetics of ethanol was studied in 15 probands. In these experiments, the maximal ethanol concentrations in blood were found to be significantly decreased and delayed. The ethanol elimination remained unchanged. The uptake of Mobiletten resulted in a remarkable decrease of the urine volume. The quantitative determination of the ethanol content in the expired air by alcotest technique was not significantly affected.
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The relationship of physical conditioning to changes in static lung volumes (hyperinflation) and airway dynamics (bronchoconstriction) as well as to ventilatory gas exchange, heart rate reserve, breathing reserves, and working capacity at a heart rate of 170/min (WC 170) was evaluated in 23 children (16 girls, 7 boys) between 6 and 15 years of age who had perennial asthma. Lung function tests including incremental cycle ergooxymetry were performed before and after a 15-week period of regular physical training (RPT). Lung function data obtained after RPT showed a significant improvement (P less than 0.05) in both hyperinflation and specific airway conductance, whereas oxygen consumption only increased related to lean body mass and heart rate. However, WC 170 and work tolerance during the endurance phase of the exercise test were significantly increased (P less than 0.05 and less than 0.01, respectively). In view of the relationship that has recently been found between exercise tolerance and lung mechanics in adults, the decreased hyperinflation and bronchoconstriction observed in our population after RPT is striking. This finding was presumably a consequence of the effect of RPT on breathing technique and chest wall mechanics. Ventilation of the lungs may improve because of mobilization of the costovertebral articulations, inspiratory muscle relaxation, an optimized force-length relationship of the respiratory muscles, and closer linkage between the diaphragm and intercostal muscles. Therefore, RPT might be an effective addition to standard drug regimens in the management of childhood asthma.
UNLABELLED: Traditionally, cystic fibrosis (CF) is diagnosed either by measuring sweat electrolyte levels or by screening for mutations using genomic DNA isolated from leucocytes. The aim of this work was to develop a modified fast and non-invasive tool for the collection of cell samples and the genetic analysis of the entire coding region for the cystic fibrosis transmembrane conductance regulator (CFTR) in newborns, especially premature infants. Cell samples were taken by scraping the buccal mucus with tiny dental brushes, followed by DNA isolation and mutation analysis using SSCP-heteroduplex (single-strand conformation polymorphism) screening and sequencing. We have demonstrated that buccal cell DNA collected from premature and term newborns yields sufficient DNA (at least 60 ng) to perform a mutation screening of the complete CFTR coding region, independently of the patients' weight (mean 2200 g) or gestational age (mean 35 weeks). The high stability of the samples at room temperature admits the possibility of dry shipment of samples collected elsewhere to the diagnostic laboratory. CONCLUSION: This fast, non-invasive sampling and DNA isolation method allows for early diagnosis of CF, initiation of therapy and minimisation of parental uncertainty and offers a technique for mutation analysis in any other monogenic disorder.
The quantification of liver function is possible using the approach of salivary caffeine clearance. Hepatopathy sometimes complicates cystic fibrosis (CF), thus suggesting the use of this diagnostic tool in CF as well. Since in CF some compounds are poorly absorbed or abnormally metabolized, and the function of salivary glands or renal tubuli partly impaired, caffeine was measured in urine, blood, and saliva after a single oral dose of 3 mg/kg in CF patients. The urinary excretion rate of caffeine was normal in five CF patients. The caffeine levels in plasma or saliva, measured 4 to 5 h and 16 to 17 h after caffeine intake, were normal in 34 nonhepatopatic CF patients. The calculated salivary caffeine clearance was comparable in the 34 nonhepatopatic CF patients (1.88 +/- 0.46 ml/min/kg) and in the control group (1.88 +/- 0.44 ml/min/kg). In CF patients, no correlation was found between caffeine clearance and body weight, height, relative underweight, dosage of pancreatic enzymes, or Chrispin-Norman x-ray score. The salivary caffeine clearance was reduced in seven hepatopathic CF patients (1.32 +/- 0.63 ml/min/kg, p less than 0.01); nevertheless, the salivary caffeine clearance was reduced (boundary line at 1.1 ml/min/kg) in three CF patients with proven liver cirrhosis but not in four with hepatosplenomegaly and altered liver tests. These data indicate an unaltered caffeine metabolism in CF and open the way for the use of this diagnostic procedure in CF as well. This test might be valuable in CF patients with clinical or laboratory findings suggesting liver involvement.
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