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PubMed2002

Physical training for cystic fibrosis.

BACKGROUND: Physical training may form an important part of the care package for patients with cystic fibrosis. OBJECTIVES: To determine whether a prescribed regime of physical training produces improvement or prevents deterioration in physiological and clinical outcomes in cystic fibrosis compared to no training. SEARCH STRATEGY: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group specialist trials register which comprises references identified from comprehensive electronic database searches, handsearching relevant journals and handsearching abstract books of conference proceedings. Date of the most recent search: August 2001. SELECTION CRITERIA: All randomised controlled clinical trials in which a prescribed regime of physical training is compared to no physical training in patients with cystic fibrosis. DATA COLLECTION AND ANALYSIS: Two reviewers independently selected trials for inclusion, assessed methodological quality and extracted data. MAIN RESULTS: Of the sixteen trials identified six trials, which included 184 patients, met the inclusion criteria. Exercise tolerance in the short term, during an acute admission was improved in patients who received physical training. In a three year study there was no improvement in exercise tolerance at the end of the study period. Over three years there was a significantly greater mean annual rate of decline in FVC in the control group compared to the exercise group WMD 2.17 (95%CI 0.47, 3.87). Changes in other lung function parameters showed a similar trend, but these were not statistically significant. REVIEWER'S CONCLUSIONS: Conclusions about the efficacy of physical training in cystic fibrosis are limited by the small size, short duration and incomplete reporting of most of the trials included in this review. Physical training is already part of the care package offered to most patients with cystic fibrosis and there is no evidence to actively discourage this. Further research is needed to assess comprehensively the net benefit of the addition of physical training to the care of cystic fibrosis patients.

Cystic Fibrosis↗

PubMed1990

Recombinant human DNase I reduces the viscosity of cystic fibrosis sputum.

Respiratory distress and progressive lung destruction in cystic fibrosis can be attributed to bacterial persistence and the accumulation of viscous purulent secretions in the airways. More than 30 yr ago it was suggested that the large amounts of DNA in purulent secretions contribute to its viscosity and that bovine pancreatic DNase I could reduce the viscosity. To evaluate the potential clinical utility of recombinant human DNase I (rhDNase) in the treatment of cystic fibrosis, we have cloned, sequenced, and expressed rhDNase. Catalytic amounts of rhDNase greatly reduce the viscosity of purulent cystic fibrosis sputum, transforming it within minutes from a nonflowing viscous gel to a flowing liquid. The reduction in viscosity is associated with a decrease in size of DNA in the sputum. Inhalation of a rhDNase aerosol may be a simple direct approach that will help individuals with cystic fibrosis and other patients with pneumonia or bronchitis to clear their airways of purulent secretions.

Amino Acid Sequence↗

PubMed2002

Cystic fibrosis: keeping it in the family.

Nearly all men with cystic fibrosis (CF) are infertile, although assisted conception has allowed an increasing number of women with CF to become pregnant. We report on the case of a couple investigated for infertility who conceived a child with CF. The father had previously undergone a laparotomy for meconium peritonitis as a neonate, and the mother had recently been given a diagnosis of asthma. Both parents fulfilled the United States Cystic Fibrosis Foundation diagnostic criteria for cystic fibrosis. We discuss the mild CF phenotype and the impact of the diagnosis on this family.

Adult↗

PubMed2004

Fertility and pregnancy outcomes in men and women with cystic fibrosis in the United Kingdom.

BACKGROUND: The survival of patients with cystic fibrosis (CF) now occurs into the fourth decade of life. Our aim was to evaluate the fertility and pregnancy outcomes of men and women with cystic fibrosis within a large British cohort. METHODS: A population based cohort study of 4659 males and females registered with the UK Cystic Fibrosis Database in 2001. RESULTS: Poor respiratory health (forced expiratory volume in 1 s FEV1 <50%) and CF-related diabetes increased significantly post-puberty compared with childhood. Few individuals with CF sought fertility treatment (1% men, 0.5% women) or achieved pregnancies (1.3% of partners of men, 5.7% women). However, the majority of pregnancies had a good outcome (67% live term birth among male partners, 74% among women). Women who achieved a pregnancy were less likely to suffer from poor respiratory health (FEV1 <50%), age adjusted Odds Ratio 0.6 (95% CI 0.3-0.9), less likely to be homozygous for the DF508 genotype OR 0.5 (95% CI 0.3-0.9) and had a significantly earlier median age at diagnosis (0 years vs 2 years, P=0.001). CONCLUSIONS: Increasing numbers of males and females with cystic fibrosis are reaching reproductive age but currently very few have a child. Optimal adult health should improve the reproductive prognosis for both men and women.

Cohort Studies↗

PubMed1985

Cystic fibrosis in New Zealand: incidence and mortality.

The incidence of and mortality from cystic fibrosis in New Zealand from 1960 to 1983, has been reviewed. Cystic fibrosis subjects have been located from data obtained from New Zealand paediatricians, the Cystic Fibrosis Association and hospital admission records. Mortality figures in the years 1960-1982 were also obtained. The incidence of cystic fibrosis of 1: 3179 non-Maori births was similar to that reported previously. Those born during 1970-1983, have a significantly better survival than those born before 1970. The survival figures are similar to those in England and Wales, but are considerably lower than those reported from Canada, or cystic fibrosis centres in the United States and Australia.

Adolescent↗

PubMed1996

Contracted gallbladder: a cause of false-positive hepatobiliary scan in patients with cystic fibrosis.

Gallbladder nonvisualization on hepatobiliary scintigraphy in cystic fibrosis is generally secondary to cystic duct obstruction from inspissated bile, mucus, or gallstones. We report gallbladder nonvisualization on hepatobiliary imaging in two patients with cystic fibrosis who had contracted gallbladders on ultrasonography. Repeat ultrasonography at 6 months revealed persistent gallbladder contraction. A contracted gallbladder therefore is a potential cause of a false-positive hepatobiliary scan which can be treated with conservative management.

Abdominal Pain↗

PubMed2005

[Evaluation of some anthropometric and clinical parameters in children with cystic fibrosis].

UNLABELLED: The aim of this study was to evaluate some antropometric and clinical parameters in children with cystic fibrosis. Studies involved 34 patients with cystic fibrosis: 13 girls (38.24%) and 21 boys (61.76%) in the age of 6 to 18 (x +/- SD = 12 +/- 3,12 lat). VARIABLES: antropometric measurements (height, body weight, circumference of the chest), spirometry, 6 minute walkin test (6MWT), pulse oximetry had been measured for 4 consecutive years. Significant difference was found in dynamics of change of body weight in boys with cystic fibrosis in comparison with healthy boys in the age: 9-11 and 12-14 ( p< 0,001 and p< 0,03 respectively). Analogous differences were found in: dynamics of change of height in girls with cystic fibrosis in comparison to healthy girls in the age 12-14 (p<0.05) and in boys with cystic fibrosis in comparision to healthy boys in the age 9-11 (p< 0.001). Significant changes were observed in values of FEV1 and FVC EX in consecutive 4 years of observation (p<0.002) and p<0.002 respectively). Loss of saturation in subjects during 6 MWT was significant (p< 0,001); (x=2.69%). The mean of oxygen arterial blood saturation was 96.44% (initial level); 93.75% (post-test levels). There was correlation between the post-test level of saturation and circumference of the chest in girls with cystic fibrosis.

Adolescent↗

PubMed2005

Crystallographic and single-particle analyses of native- and nucleotide-bound forms of the cystic fibrosis transmembrane conductance regulator (CFTR) protein.

Cystic fibrosis, one of the major human inherited diseases, is caused by defects in the CFTR (cystic fibrosis transmembrane conductance regulator), a cell-membrane protein. CFTR acts as a chloride channel which can be opened by ATP. Low-resolution structural studies of purified recombinant human CFTR are described in the present paper. Localization of the C-terminal decahistidine tag in CFTR was achieved by Ni2+-nitriloacetate nanogold labelling, followed by electron microscopy and single-particle analysis. The presence of the gold label appears to improve the single-particle-alignment procedure. Projection structures of CFTR from two-dimensional crystals analysed by electron crystallography displayed two alternative conformational states in the presence of nucleotide and nanogold, but only one form of the protein was observed in the quiescent (nucleotide-free) state.

Crystallography, X-Ray↗

PubMed2001

Perspectives on gene therapy for cystic fibrosis airway disease.

Since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene nearly 12 years ago, cystic fibrosis (CF) has become one of the most intensively investigated monogenetic disorders considered approachable by gene therapy. This has resulted in over 20 clinical trials currently under way, concluded or awaiting approval. Despite the initial promise of gene therapy for CF, and the demonstration of successful gene transfer to the nose and airways of individuals, it has not so far been as effective as initially projected. Here we discuss the rationale behind CF gene therapy and dissect the vast array of literature representing the work that ultimately brought about the current phase I/II clinical trials. In the context of human trials, we review the limitations of current vector systems for CF gene therapy. We come to the conclusion that at present none of the application methods and vector systems are able to achieve the level and persistence of CFTR gene expression in the affected epithelia of CF patients that is required for therapeutic success. We also outline the challenges that must be overcome and describe some of the novel approaches to be taken in order to attain the curative therapy that was originally envisaged for this disease.

Adenoviridae↗

PubMed1991

Molecular screening of cystic fibrosis patients.

A method for the direct direction of the delta F508 mutation in the cystic fibrosis gene has been developed and applied to the analysis of over 280 individuals including 104 individuals with cystic fibrosis. This technique allows the rapid analysis of DNA from whole blood, Guthrie card blood spots, and the antenatal diagnosis of cystic fibrosis from chorionic villus biopsy samples. Based on these analyses, the delta F508 mutation is found in 77.88% of cystic fibrosis chromosomes in New Zealand cystic fibrosis patients. Thus this test can be used to establish a direct DNA diagnosis in over 60% of cystic fibrosis patients. Approximately a further 30% are heterozygous for this mutation.

Alleles↗

PubMed2002

[Cystic fibrosis in a 70-year-old woman].

Cystic fibrosis is usually diagnosed in early childhood, and patients rarely live beyond the age of 40. We present a case of a 70-year-old woman, in whom cystic fibrosis was diagnosed with the rare mutation, R117C. Cystic fibrosis should therefore also be considered in older patients.

Age Factors↗

PubMedDate not supplied

Genetic analysis of cystic fibrosis in Denmark. Implications for genetic counselling, carrier diagnosis and prenatal diagnosis.

Cystic fibrosis is the most common, severe, inherited disease in the Caucasian population. As a consequence, the demand for genetic counselling of patients with cystic fibrosis and their families is large. In Denmark the incidence of cystic fibrosis is 1:4700, which is quite low compared to other European countries. We have investigated 268 Danish cystic fibrosis patients with respect to DNA markers (haplotypes) and the most common mutation delta F508. The delta F508 mutation is found on 88% of all cystic fibrosis chromosomes, the highest frequency reported so far. This had had an important impact on genetic counselling, prenatal diagnosis and eventually population screening. In the Danish population 78% of all couples at risk will be informative for delta F508 and will be identifiable by simple screening methods.

Cystic Fibrosis↗

PubMed1995

Chronic sinusitis.

Explore the source record for details and available documents.

Chronic Disease↗

PubMed2006

A new model of cystic fibrosis pathology: lack of transport of glutathione and its thiocyanate conjugates.

Many of the symptoms of cystic fibrosis are not explained by the current disease mechanisms. Therefore, the authors conducted an extensive literature review and present a new model of cystic fibrosis pathology, which is the culmination of this research. Understanding that the cystic fibrosis transmembrane conductance regulator (CFTR) is responsible for glutathione (GSH) transport, the authors hypothesize that mutations of the CFTR, which create abnormal GSH transport, will lead to aberrations of GSH levels in both the intracellular as well as the extracellular milieu. These alterations in normal cellular GSH levels affect the redox state of the cell, thereby affecting the intracellular stress protein, metallothionein. The authors describe how this disruption of the redox state caused by excess cellular GSH, will naturally prevent the delivery of zinc as a cofactor for various enzymatic processes, and how these disruptions in normal redox may cause alterations in both humoral and cell-mediated immunity. Moreover, the symptom of thick sticky mucus in these patients might be explained through the understanding that oversulfation of mucus is a direct result of elevated cellular GSH and cysteine. The issues of hyperinflammation, altered pH and the imbalance of fatty acids that are typical in cystic fibrosis are addressed-all of which may also be linked to disruptions in GSH homeostasis. Additionally, this new model of cystic fibrosis pathology, clarifies the relationship between the CFTR and the multi-drug resistance proteins, and the lack of cell-mediated immunity by predicting that the substrate of these proteins is a glutathione adduct of thiocyanate. Finally, a new therapeutic strategy by using isothiocyanates to rectify the GSH imbalance and restore the immune system is suggested for the treatment of cystic fibrosis patients.

Animals↗

PubMed1999

Management of adolescent and adult inpatients with cystic fibrosis.

A program in which pharmacists help care for cystic fibrosis patients is described. The Egleston Cystic Fibrosis Center at Emory University houses outpatient clinic facilities and a 10-bed inpatient unit and is affiliated with Egleston Children's Hospital. The center provides full-service care for nearly 500 patients. Patients with mild to moderate exacerbations of pulmonary problems can receive their entire course of therapy at the center, and those with severe illness may complete their hospital stay there. A care team consisting of pharmacists, physicians, nurses, and others provides preventive and acute care. Patients can choose a "care partner" who will assist them with their care during any hospitalizations and at home. Both patient and care partner are taught drug administration, nutrition, and physical therapy and meet regularly with the care team. Patients must receive their medication education from a pharmacist before they can administer their own drugs. Pharmacists at the center also evaluate serum drug concentrations, stock the automated dispensing device, monitor for drug interactions, answer drug information questions, and attend multidisciplinary rounds. Pharmacy residents can work with the care team through rotations and clinic experience. Pharmacists at a cystic fibrosis center provide clinical services to patients and promote self-care.

Adolescent↗

PubMed2004

Purification and crystallization of the cystic fibrosis transmembrane conductance regulator (CFTR).

The cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein that is mutated in patients suffering from cystic fibrosis. Here we report the purification and first crystallization of wild-type human CFTR. Functional characterization of the material showed it to be highly active. Electron crystallography of negatively stained two-dimensional crystals of CFTR has revealed the overall architecture of this channel for two different conformational states. These show a strong structural homology to two conformational states of another eukaryotic ATP-binding cassette transporter, P-glycoprotein. In contrast to P-glycoprotein, however, both conformational states can be observed in the presence of a nucleotide, which may be related to the role of CFTR as an ion channel rather than a transporter. The hypothesis that the two conformations could represent the "open" and "closed" states of the channel is considered.

ATP Binding Cassette Transporter, Subfamily B, Mem↗

PubMedDate not supplied

Cystic fibrosis and lung transplantation: ethical concerns.

Cystic fibrosis is a multisystem disorder affecting respiratory, digestive, integumentary, and reproductive systems. Despite the medical advancements treating cystic fibrosis, lung disease is the leading cause of morbidity and mortality in children and adults. A case study of a 21-year-old's struggle to undergo double lung transplantation is presented, and four ethical considerations are identified. An ethical decision-making model provides an avenue for discussing these concerns.

Adult↗

PubMed1997

Effect of sinus surgery on pulmonary function in patients with cystic fibrosis.

The impact of sinus surgery on the pulmonary status of cystic fibrosis patients is unknown. This retrospective study reviewed the charts of the cystic fibrosis patients presenting to our institution's cystic fibrosis center with nasal obstruction, recurrent sinusitis, and nasal polyposis. This group subsequently underwent endoscopic ethmoidectomy and antrostomy. Fourteen of the 15 patients, ages 5-24 years, received preoperative and postoperative pulmonary function testing obtained by spirometry. The data were compiled and analyzed statistically. Our results suggested no significant improvement in the pulmonary function of cystic fibrosis patients after sinus surgery.

Adolescent↗