No abstract

No abstract

No abstract

Background-Patients with cystic fibrosis have several risk factors for the development of low bone mineral density (BMD).To identify the prevalence and clinical correlates of low BMD in adult patients with cystic fibrosis, densitometry was performed in 151 patients (83 men) aged 15-52 years. Methods-BMD was measured in the lumbar spine (L1-4) using dual energy x ray absorptiometry (DXA) and quantitative computed tomography (QCT). It was also measured in the proximal femur (total hip and femoral neck) using DXA, and in the distal and ultra distal forearm using single energy x ray absorptiometry (SXA). Biochemical markers of bone turnover, vitamin D levels, parathyroid hormone levels, and a variety of anthropometric variables were also assessed. Conclusions-Low bone density is prevalent in adult patients with cystic fibrosis. Current levels of vitamin D supplementation appear to be inadequate. (Thorax 1999;54:961-967)

Background-Polymorphisms in transforming growth factor (TGF)-1 associated with variations in cytokine levels are linked to fibrosis in a number of tissues. However, the contribution of this cytokine to organ fibrosis in patients with cystic fibrosis is presently unclear. This study was undertaken to examine the association between TGF-1 gene polymorphisms and the development of pulmonary dysfunction in patients with cystic fibrosis. Methods-Polymorphisms in the TGF-1 gene defining amino acids of codons 10 and 25 were determined by ARMS-PCR using DNA stored on 171 Caucasian patients who were homozygous for the F508 mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Clinical information on the patients was obtained from medical records. Results-Patients with cystic fibrosis of a TGF-1 high producer genotype for codon 10 had more rapid deterioration in lung function than those with a TGF-1 low producer genotype. The relative risk of accelerated decline in forced expiratory volume in one second (FEV 1 ) to 50% predicted and forced vital capacity (FVC) to 70% predicted of patients with a high producer genotype was 1.74 (95% CI 1.11 to 2.73) compared with 1.95 (95% CI 1.24 to 3.06) for those with a low producer genotype. Discussion-TGF-1 genotypes may have a role in mediating pulmonary dysfunction in patients with cystic fibrosis. Further work is required to determine whether inhibition of TGF-1 activity in these patients may slow disease progression. (Thorax 2000;55:459-462)

Background-Health related quality of life (HRQoL) measurement is important in determining the impact of disease on daily functioning and subsequently informing interventions. In cystic fibrosis (CF) generic HRQoL measures have been employed but these may not be suYciently specific. The aim of the current work was to develop and validate a disease specific HRQoL measure for adults and adolescents with cystic fibrosis. Methods-Areas of concern to adults and adolescents with CF were identified by unstructured interviews, selfadministered questionnaires, consultation with multidisciplinary specialist staV, a review of the relevant literature, and examination of other HRQoL measures. Advances in the care and treatment of cystic fibrosis (CF) have resulted in most patients surviving into adulthood.1 Despite these improvements, CF remains a progressive and ultimately fatal multisystem disease that has a heavy treatment regimen.2 Given this, a new goal for intervention in CF should be to measure and improve health related quality of life (HRQoL) in relation to medical and psychosocial interventions. The measurement of HRQoL complements clinical measures of disease status such as respiratory function tests. Once developed a questionnaire would be useful as (a) an outcome measure in clinical trials, (b) for the assessment of disease progression, and (c) for the monitoring of individual patients.To date, HRQoL in adults with CF has been measured using either generic scales 3-5 or disease specific respiratory measures.6-9 These measures were not developed for the CF population and are limited since they do not reflect areas of functioning that are particularly salient to the adult with CF. Because of this the data are likely to lack sensitivity and be problematic in their interpretation. This work aims to develop, test, and validate a disease specific measure of HRQoL for adults and adolescents with CF. The measure should include areas of functioning that are meaningful to adults with CF, be brief enough to be applied in a clinical setting (that is, completion time of about 10 minutes), be simple to administer and score (for use in clinical settings and postal surveys), and be sensitive enough to detect both changes in health within the individual and diVerences between levels of disease severity.The development, testing, and validation of the Cystic Fibrosis Quality of Life (CFQoL) questionnaire took place over four phases: (1) initial item generation and testing of a preliminary questionnaire; (2) testing and validation of a second version of the questionnaire including concurrent and discriminative validity; (3) test-retest reliability of a third and final version of the questionnaire; and (4) sensitivity testing of the final version of the questionnaire. The step by step development and validation of the CFQoL is reflected in the structure of this paper with the various methods and results sections reported in sequential order for each stage of development and testing. Thorax 2000;55:946-954 946

("about right") was physiotherapy 67%, exercise 37%, enzymes 78%, and vitamins 9%. Compliance was not influenced by demographic details nor by severity of disease, although patients producing large amounts of sputum and receiving help with physiotherapy were more compliant with physiotherapy. The physiotherapist and physician judged correctly the degree of compliance with physiotherapy in 83% and 75% of cases, respectively, and with exercise in 68% and 67% of cases, respectively. Conclusions -The reported degree of compliance and reasons for poor compliance were treatment specific. Demographic and disease severity variables were not associated with compliance. Those involved in the care of patients with cystic fibrosis were able to predict patient compliance. (Thorax 1994;49:115-120)

Abstracttus, 3 5 arterial P 2 , 4 6 Burkholderia cepacia colonisation, 7 8 and spirometric values 4 6 7 have Background -The assessment of prognosis is an important issue in cystic fib-been found to correlate with survival in cystic fibrosis. In a study of 673 patients Kerem et rosis. The prognostic value of exercise testing in comparison with other pre-al 4 found the forced expiratory volume in one second (FEV 1 ) to be the most significant predictors of mortality was examined. Methods -Ninety two adult patients with dictor, and that patients with an FEV 1 of less than 30% predicted had a 50% chance of dying cystic fibrosis performed progressive maximal exercise tests and outcome was as-within two years.The value of exercise testing in the assessed at five years. The results of exercise testing were examined along with spiro-sessment of prognosis in cystic fibrosis has been studied infrequently. 6 7 9 Patients attending the metric values, age, sex, body mass index (BMI), and sputum culture.adult cystic fibrosis unit in Manchester over the last decade have undergone routine maximal Results -Twenty two subjects died during the five year follow up period and 67 sur-exercise testing and we have investigated its prognostic value in comparison with previously vived. Five subjects received a lung transplant and were excluded from the analysis. described correlates of survival. This information may provide additional guidance in There were significant differences between those who survived and those who died: the assessment of prognosis in adults with cystic fibrosis. mean(SE) forced expiratory volume in one second (FEV 1 ) 68.9 (2.7) versus 39.7 (3.5)% predicted, BMI 19.0 (0.3) versus 17.1 (0.4) Methods kg/m 2 , peak oxygen uptake (V O 2 peak) 66. 6 The results of 92 patients who underwent ex-(2.2) versus 53.7 (3.7)% predicted, peak ercise testing between 1986 and 1989 in whom work rate (Wpeak) 89.4 (3.8) versus 71.2 the outcome at five years was known were (5.5)% predicted, peak minute ventilation retrospectively examined. Progressive in-(V Epeak) 51.3 (2.0) versus 43.3 (3.1) l/min, cremental exercise testing to a symptom limited and ventilatory equivalent for oxygen (V E/ maximum was performed using an elec-V O 2 ) 32.4 (0.6) versus 38.7 (1.7). Age, sex, tronically braked cycle ergometer (Corival 300, oxygen saturation and Burkholderia ceGould, The Netherlands). The work rate was pacia colonisation were not found to be increased each minute in either 15 or 25 watt significant predictors of mortality. When increments depending on the operator's assignificant independent factors were sessment of fitness and disease severity. Measentered into a multivariate logistic reurements taken included minute ventilation gression model only FEV 1 was found to be (V E), oxygen uptake (V  2 , Oxylog, P K Mora significant correlate of mortality. A cutgan, UK), work rate (W), oxygen saturation off for FEV 1 of 55% predicted gave the best (Sa 2 ; Ohmeda Biox 7300a), and heart rate combination of specificity and sensitivity (Hr; S ...