Sissi Arleth

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We report on genetic counseling and investigations in 36 families with inherited balanced translocations ascertained in different ways, with special regard to the completeness and reasons for incompleteness of family investigation. Quantitative evaluation of the results of cytogenetic investigations shows that non-directive genetic counseling was very(More)
A cystic fibrosis patient with the genotype G542X/1717-1 (G----A) was identified by DNA sequencing of exon 11 of the CFTR gene. The available molecular and clinical data are presented. This is the first report of a patient with this rare genotype and may serve to improve our understanding of allele interactions.
Obstructive pulmonary disease is a typical feature of cystic fibrosis (CF) and is often associated with bronchial hyperreactivity. Positive skin-test reactions to Aspergillus fumigatus antigens are frequently seen even in nonatopic patients with CF. Full-fledged allergic bronchopulmonary aspergillosis (ABPA) has been estimated to occur in 10% of patients(More)
Adrenocortical tumours (ACT) are a rare but important cause of virilisation in infancy and childhood. Four cases of virilising ACT are presented. Two girls (age 0.9 years and 3.9 years) and two boys (age 6.2 years and 6.4 years) had symptoms and signs of virilisation before the age of 6 years. Diagnosis of a virilising adrenal tumour was confirmed by(More)
Bronchial hyperreactivity is often present in CF patients, but little is known about its causes. Therefore, in 80 outpatients with CF (age 5-34y) Aspergillus IgE antibodies, basic lung function parameters and bronchial reactivity to salbutamol inhalation were measured. Results were analysed using multiple regression for age, sex, weight as percentile for(More)
Fluid restriction in neonates reduces the incidence of patent ductus arteriosus and introcranial hemorrhage, enhances the elimination of excess lung water, but may cause hypovolemia with impaired renal and cerebral blood flow. We studied changes in blood volume (BV) during a loss of 10% of body weight in 10 AGA infants of 750-1500g after birth, at the time(More)
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