Validation of a predictive survival model in Italian patients with cystic fibrosis.

BACKGROUND: In 2001 Liou published a 5-year survival model using CFF Registry data. AIMS: To evaluate its validity in predicting survival in Italian CF patients. METHODS: In a retrospective study on 945 patients, the 9 variables selected by Liou were analyzed, vital status on December 2008 recorded and observed and expected deaths compared. To develop a new model, patients were randomly divided into a derivation (n=475) and a validation sample (n=470). RESULTS: A significant difference was found between observed and expected deaths based on Liou's model (62 vs 94), with a 34% reduction in mortality (p<0.05). A new model (based on FEV1, Staphylococcus aureus and Burkholderia cepacia complex infection, number of pulmonary exacerbations/year) was generated, that correctly predicted survival in the validation sample (31 observed vs 29 expected deaths, p=0.660). CONCLUSIONS: The Liou model did not adequately predict 5-year survival in our CF population that, compared to the one in which it was originally tested, could benefit from 10 years of improvement in treatments and practice patterns. A new generated model, based on only four variables, was more accurate in predicting 5-year survival in Italian CF patients.

Two successful pregnancies in a woman affected by cystic fibrosis: case report and review of the literature.

BACKGROUND: Pregnancies in patients with cystic fibrosis (CF) are subject to an increased risk of complications. METHODS: We have made a systematic review of the literature concerning pregnancies in women with CF to evaluate prognostic factors of pregnancy outcome such as lung function and nutritional status, also including and describing the case of a woman suffering from CF who had two pregnancies in her late thirties, both with a good outcome. RESULTS: Thirteen case series and 22 case reports involving 523 pregnancies in 401 women were extracted. 83.1% of 516 pregnancies whose outcome was known resulted in the delivery of live births, with preterm birth rate of 24%. Miscarriage occurred in 6.3% and therapeutic abortion in 10% of pregnancies. Indirect mother's death occurred in seven cases. In our case report, the course of the second pregnancy proved to be much more difficult than the first, with preterm delivery probably related to a worsening of lung disease in the third trimester of pregnancy. CONCLUSIONS: Pre-pregnant lung function as well as lung function deterioration, CF-related diabetes mellitus and weight gain in pregnancy, are parameters to consider in the counseling about the outcome of pregnancy.

A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.

BACKGROUND: The identification of cystic fibrosis (CF) patients who are at greater risk of lung damage could be clinically valuable. Thus, we attempted to replicate previous findings and verify the possible association between three single nucleotide polymorphisms (SNPs c.-52G>A, c.-44C>G and c.-20G>A) in the 5' untranslated region (5' UTR) of the ß defensin 1 (DEFB1) gene and the CF pulmonary phenotype. METHODS: Genomic DNA from 92 Italian CF patients enrolled in different regional CF centres was extracted from peripheral blood and genotyped for DEFB1 SNPs using TaqMan(®) allele specific probes. In order to avoid genetic confounding causes that can account for CF phenotype variability, all patients were homozygous for the F508del CFTR mutation, and were then classified on the basis of clinical and functional data as mild lung phenotype (Mp, n=50) or severe lung phenotype patients (Sp, n=42). RESULTS: For the c.-20G>A SNP, the frequency of the A allele, as well as the AA genotype, were significantly more frequent in Mp than in Sp patients, and thus this was associated with a protective effect against severe pulmonary disease (OR=0.48 and 0.28, respectively). The effect of the c.-20G>A A allele is consistent with a recessive model, and the protective effect against Sp is exerted only when it is present in homozygosis. For the other two SNPs, no differences were observed as allelic and genotypic frequency in the two subgroups of CF patients. CONCLUSIONS: Our results, although necessary to be confirmed in larger and multiethnic populations, reinforce DEFB1 as a candidate modifier gene of the CF pulmonary phenotype.

Evaluation of a home telemonitoring service for adult patients with cystic fibrosis: a pilot study.

We have conducted a pilot trial of a home telemonitoring system involving 60 adult patients with cystic fibrosis (CF) enrolled at four Italian CF centres. Thirty randomly selected patients received a home device to perform spirometry and to measure oxygen saturation. The data were transferred to a data centre which forwarded them to the patient's CF clinic. The telemonitoring system was evaluated using questionnaires completed by patients and their doctors. The doctors reported that telemonitoring was useful in monitoring their patients' health status and in decreasing the CF centre workload. The data transfer procedure posed no particular problems for the patients. The major difficulties reported by the patients were night-time saturimetry measurements, and in the first week of the study, data transmission to the data centre. The pilot trial was positive and therefore merits a larger study.