103 individuals from 16 families with cystic fibrosis and 87 individuals without family history of cystic fibrosis have been studied using the methods of cell culture. Skin fibroblast cultures derived from 19 affected children, and fibroblast cultures from 11 different organs obtained at autopsy from two affected children, showed cellular metachromasia. The morphological appearance and the intr...

UNLABELLED Malnutrition, delayed growth and puberty are commonly observed in children suffering from cystic fibrosis. The aim of this study was to assess the age of menarche in girls with CF using status quo analysis. The relationship between types of CFTR mutations and onset of the first menstruation was also evaluated. Material was based on somatic data gathered from medical history records o...

In a retrospective study, children with cystic fibrosis who were colonised with Pseudomonas cepacia were compared with a control group who were colonised with Pseudomonas maltophilia. Out of 216 children with cystic fibrosis seen between 1983 and 1990, P cepacia was recovered from 13 (median age at colonisation 12.2 years) and P maltophilia from 23 (median age at first colonisation 6.1 years), ...

Changes in the airway microbiome may be important in the pathophysiology of chronic lung disease in patients with cystic fibrosis. However, little is known about the microbiome in early cystic fibrosis lung disease and the relationship between the microbiomes from different niches in the upper and lower airways. Therefore, in this cross-sectional study, we examined the relationship between the ...

We have known of the increased risk of prematurely reduced bone mineral density (BMD) in children and young adults with cystic fibrosis since Mischler’s work of 20 years ago which documented significant deficiency in 44% of 27 patients. Bone metabolism, however, remained until recently an under-researched area of cystic fibrosis care, perhaps because patients were not expected to live long enou...

We have known of the increased risk of prematurely reduced bone mineral density (BMD) in children and young adults with cystic fibrosis since Mischler’s work of 20 years ago which documented significant deficiency in 44% of 27 patients. Bone metabolism, however, remained until recently an under-researched area of cystic fibrosis care, perhaps because patients were not expected to live long enou...

Essential fatty acids (EFA) have proved to be important for normal bone mineral density (BMD) and bone growth in animal studies. Patients with cystic fibrosis often have low serum EFA levels, and low BMD has also been reported in patients with normal anthropometry. The aim of the present study was to analyse if BMD during a 2-year period was related to fatty acid status in patients with cystic ...

Children with cystic fibrosis are usually admitted to the hospital many times through their lives. This study aims to know the perceptions of these children towards the multiple hospital admissions, as well to identify what they realize about the treatment and the care they get. This is a descriptive study with a qualitative approach. The study subjects were seven children who suffer from cysti...

We report our experience of heart-lung transplantation for the treatment of children with terminal respiratory disease. Between May 1987 and October 1988 we performed heart-lung transplantation in five children under the age of 16 (age range 11-15). All the patients were severely disabled by dyspnoea and hypoxia. Two had primary pulmonary hypertension, two cystic fibrosis, and one had Eisenmeng...

Screening for cystic fibrosis is highly controversial. Concerns have been expressed that newborn screening may cause mothers, who had considered their child to be healthy before diagnosis, to overprotect their child. Some critics of screening also suggest that a period of delay from onset of symptoms to diagnosis may help a mother adjust to the reality of the child's lethal condition. This stud...