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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 147 (1988), S. 663-663 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Cystic fibrosis ; 508 Gene mutation ; Genotype ; Phenotype
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In an attenmpt to ascertain a relationship between genotype and phenotype, we studied the pulmonary and nutritional status of 123 cystic fibrosis patients with known genotype at an age of 8.5–10 years. Patients represent a cohort as they are almost all those born and diagnosed in a given area and period. They were followed at a single centre using uniform diagnostic and treatment protocols. Pulmonary and nutritional status of homozygous ΔF508 patients did not differ from that of compound heterozygotes or of patients with other unspecified genotypes. Pulmonary manifestations varied widely in all genotype groups. With the given number of patients, a slightly higher mortality of ΔF508 homozygotes could have been coincidental. We conclude that up to the age of 8.5–10 years the severity of pulmonary lesions and nutritional deficiencies is not related to the
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 152 (1993), S. 265-266 
    ISSN: 1432-1076
    Keywords: Cystic fibrosis ; Nasal polyposis ; Hearing loss ; Paranasal sinuses
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Although upper respiratory tract involvement is a common finding in cystic fibrosis (CF), there is no agreement on whether hearing is affected in these patients. We studied 75 CF subjects and 50 healthy agematched children with the same audiological protocol. An original scoring system was used to quantify the degree of hearing involvement (normal, mild, moderate and severe) in each subject. Prevalence of ear involvement in children with CF was similar to that in agematched control subjects (25.4% and 18% respectively,P〉0.05). Ear disease in CF was not related to pulmonary disease, radiological sinusitis, nasal polyposis, or use of parenteral aminoglycosides. These data showed that the risk of ear disease in CF was not increased even if patients with severe audiological involvement were described only in the CF group.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Keywords: BT-Paba test ; Serum ; Urine ; Cystic fibrosis ; Children
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Urinary recovery and serum determination of Paba were carried out in 48 control children (C) and 53 paediatric patients with cystic fibrosis (CF) divided into three classes by age. Ninety and 120 min after the ingestion of 15 mg/kg of BT-Paba and of a standard meal, serum Paba was determined. In the same subjects the percentage Paba recovery was measured in the urine collected during an 8 h period after the same administration of BT-Paba. Correlation between urinary and serum Paba values was higher in the older children in respect to the 0–2-year-old infants. A urinary Paba test was less sensitive and specific than a serum Paba test in the evaluation of exocrine pancreatic function. The best discrimination between C and children with CF, using the maximal value of serum Paba at 90 or 120 min (peak), was obtained in the younger infants (0–2 years old). BT-Paba test with serum Paba peak determination is recommended as a substitute for the classical urinary Paba test in the evaluation of exocrine pancreatic function in paediatric patients, especially in the younger infants.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1076
    Keywords: Intractable diarrhoea in childhood ; Auto-immune enteropathy ; Parenteral nutrition
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Abstract A “quick” prevalence study of intractable diarrhoea (defined as diarrhoea lasting more than 3 weeks and dependent on parenteral nutrition [PN] for more than 50% of daily caloric intake) was conducted by FAX. All 35 paediatric gastroenterology services which had been contacted answered questionnaire sent by FAX. 20 cases of intractable diarrhoea were identified in 9 centres. In 12 cases PN was administered at home, the other 8 cases being treated as inpatients for an average duration of 9.5 months. A diagnosis had been established in 11 out of 20 cases. Auto-immune enteropathy was the most frequent diagnosis (5 cases); congenital microvillous atrophy (3 cases); chronic pseudo-obstruction (2 cases) and multiple food intolerance (1 case). Undefinied 9/20 cases presented atrophy of intestinal mucosa. The age of the beginning of diarrhoea varied from 2 days to 12 years, but was more than 16 months only in some cases with auto-immune enteropathy. Conclusion Intractable diarrhoea has a low prevalence in Italy and remains a rare but very intricating problem. Long-term PN is recommended in most cases: autoimmune enteropathy is the most frequent cause but in about half of the cases the aetiopathogenetic diagnosis is still not defined.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1076
    Keywords: Cystic fibrosis ; Pancreatic function ; Vitamin E ; Vitamin A ; Vitamin supplementation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Abstract The aim of this study was to evaluate to what extent serum vitamins A and E in cystic fibrosis are affected by the underlying disease, pancreatic sufficiency or insufficiency, meconium ileus, nutritional status, age and treatment (enzyme and vitamin supplementation). Serum vitamin A and E levels were determined by high performance liquid chromatography in 210 cystic fibrosis patients, subdivided according to clinical condition into four subgroups (unsupplemented pancreatic insufficiency, supplemented meconium ileus, pancreatic sufficiency, supplemented pancreatic insufficiency) and compared with 42 control subjects. Vitamin A and E levels were generally lower in cystic fibrosis patients than in controls (P〈0.002 andP〈0.001 respectively). Subjects with pancreatic insufficiency regularly receiving enzyme and vitamin supplementation had significantly lower vitamin A (P〈0.05) and vitamin E (P〈0.01) levels than controls. In subjects with pancreatic sufficiency only vitamin A was significantly lower than in controls (P〈0.01). Vitamin levels were not age-dependent in cystic fibrosis, and no significant correlation with standardized body weight (Z-score) was observed. Conclusion Cystic fibrosis patients show a clear tendency to vitamin A and E deficiency, irrespective of pancreatic function, body weight and standardized supplementation with pancreatic extract and liposoluble vitamins. Since the clinical significance of this deficiency is still not clear, longitudinal studies of cystic fibrosis patients with and without adequate vitamin supplementation are required.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1076
    Keywords: Key words Cystic fibrosis ; Pancreatic function ; Vitamin E ; Vitamin A ; Vitamin supplementation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The aim of this study was to evaluate to what extent serum vitamins A and E in cystic fibrosis are affected by the underlying disease, pancreatic sufficiency or insufficiency, meconium ileus, nutritional status, age and treatment (enzyme and vitamin supplementation). Serum vitamin A and E levels were determined by high performance liquid chromatography in 210 cystic fibrosis patients, subdivided according to clinical condition into four subgroups (unsupplemented pancreatic insufficiency, supplemented meconium ileus, pancreatic sufficiency, supplemented pancreatic insufficiency) and compared with 42 control subjects. Vitamin A and E levels were generally lower in cystic fibrosis patients than in controls (P 〈 0.002 and P 〈 0.001 respectively). Subjects with pancreatic insufficiency regularly receiving enzyme and vitamin supplementation had significantly lower vitamin A (P 〈 0.05) and vitamin E (P 〈 0.01) levels than controls. In subjects with pancreatic sufficiency only vitamin A was significantly lower than in controls (P 〈 0.01). Vitamin levels were not age-dependent in cystic fibrosis, and no significant correlation with standardized body weight (Z-score) was observed. Conclusion Cystic fibrosis patients show a clear tendency to vitamin A and E deficiency, irrespective of pancreatic function, body weight and standardized supplementation with pancreatic extract and liposoluble vitamins. Since the clinical significance of this deficiency is still not clear, longitudinal studies of cystic fibrosis patients with and without adequate vitamin supplementation are required.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Clinica Chimica Acta 94 (1979), S. 83-88 
    ISSN: 0009-8981
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biology of the Cell 64 (1988), S. 67-70 
    ISSN: 0248-4900
    Keywords: basal body ; ciliary aplasia ; ciliogenesis ; immotile cilia syndrome ; striated roots
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1573-7284
    Keywords: DNA fingerprinting ; P. cepacia ; Cystic Fibrosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Genome fingerprinting by field inversion gel electrophoresis (FIGE) was utilized to typify 129 isolates of Pseudomonas cepacia (Pc) from 59 patients with cystic fibrosis (CF) and from environmental cultures in the CF ward. The aim of this study was to assess whether a segregation policy avoided colonization of CF patients by nosocomial strains and contamination of the environment by colonized individuals, whether or not an ‘epidemic strain’ was present in the ward and whether cross-colonization occurred in CF individuals subjected to prolonged close contact. The Pc strains of each patient remained unchanged over time; 78% of the genome fingerprintings (GFP) were individual, whereas the others gave rise to 9 GFP groups. A spirometer was probably contaminated by a newly colonized patient. Adequate sanitary measures and avoidance of excessive promiscuity are helpful for limiting but are unable to eliminate Pc transmission in the CF ward. Direct or indirect transmission, however seems, more frequent in CF patients in contacts outside the hospital.
    Type of Medium: Electronic Resource
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