PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “CYSTIC FIBROSIS”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 901 records · Page 50Linked to original sources
PubMed1982

Cardiomyopathy in cystic fibrosis: lymphoedema of the heart with focal myocardial fibrosis.

Cardiomyopathy in cystic fibrosis (CF) is an unusual heart disease, mainly characterized by a multifocal fibrosis of the left ventricle. The disorder chiefly occurs in the age group of 1-2 years and leads to fatal cardiac failure. The causal pathogenesis of the disease has not been discovered up to now. In two cases of CF-associated cardiomyopathy we found an oedema (mainly lymphoedema) of the myo- and epicardium and a lymph stasis in lymph vessels and lymph nodes of the heart. Based on a comparative study using animal models we speculate that a) CF may be complicated by a disorder of cardiac lymph circulation, and b) chronic cardiac lymphoedema of the heart in CF can cause focal myocardial damage with fibrosis.

Cardiomegaly↗
PubMed1991

Ion transport abnormalities in rectal suction biopsies from children with cystic fibrosis.

Abnormalities in transepithelial electrolyte transport in cystic fibrosis rectum were analyzed by short-circuit current measurements on 11 control subjects and 11 subjects with cystic fibrosis in a modified Ussing chamber. As judged by the amiloride-sensitive component of the short-circuit current, electrogenic sodium absorption appeared unmodified in cystic fibrosis. In contrast, the short-circuit current response to specific stimuli of both cyclic adenosine monophosphate (cAMP)- and calcium-mediated chloride secretion was drastically altered in all of the cystic fibrosis biopsy specimens examined. Stimulation of the cAMP pathway by 8-bromo cAMP or forskolin resulted in a sustained increase in short-circuit current in control tissues (+ 2.51 +/- 0.63 microA/cm2) but in a slight change in the opposite direction in cystic fibrosis (-0.56 +/- 0.49 microA/cm2; P less than 0.05). Carbachol, a calcium-linked secretagogue, provoked a transient increase in short-circuit current in all of the control tissues (peak response, + 26.69 +/- 3.63 microA/cm2) but a transient change in the opposite direction in 6 of 11 cystic fibrosis tissues (-12.46 +/- 4.64 microA/cm2; P less than 0.05). In 2 of 11 patients with cystic fibrosis, however, a significant but subnormal and transient increase in short-circuit current was observed (+ 2.62 +/- 0.04 microA/cm2; P less than 0.05), whereas in 3 of 11 patients with cystic fibrosis a transient change in the opposite direction (-9.83 +/- 2.20 microA/cm2; P less than 0.05) was followed by a small and transient increase (+ 2.89 +/- 0.83 microA/cm2; P less than 0.05). Using the calcium-mediated secretory response therefore, patients with cystic fibrosis could be divided into two categories: a major population showing defective anion secretion but active cation secretion and a subclass (including three siblings) showing residual but subnormal anion secretion. The easy accessibility of rectal samples and the inversed direction of the cAMP- or calcium-provoked short-circuit current is of considerable advantage in the diagnosis of cystic fibrosis.

Adolescent↗
PubMed2000

Home intravenous antibiotics for cystic fibrosis.

BACKGROUND: Recurrent endobronchial infection in cystic fibrosis requires treatment with intravenous antibiotics for several weeks, which is usually administered in hospital, affecting health costs and quality of life for patients and their families. It is not known whether patients receiving intravenous treatment at home have better or equivalent health outcomes, if costs are reduced or if it is preferred than in-hospital treatment. Home treatment requires training to patients and carers and usually needs a few previous days in hospital. OBJECTIVES: To determine whether home intravenous antibiotic therapy in cystic fibrosis is as effective as in-patient intravenous antibiotic therapy and if it is preferred by patients and/or families. SEARCH STRATEGY: References to trials were obtained from the specialist cystic fibrosis trials register held by the editorial base of the Cochrane Cystic Fibrosis and Genetic Disorders Group. Handsearching of the abstracts books of all Spanish Conferences on cystic fibrosis and the last European Conference (Stockholm, 2000) was carried out by authors. SELECTION CRITERIA: Randomised controlled trials where home intravenous antibiotic treatment for patients with cystic fibrosis was compared with in-hospital intravenous antibiotic treatment, including adults and children with cystic fibrosis. All kinds of antibiotics and regimens administered intravenous were included. DATA COLLECTION AND ANALYSIS: Three reviewers independently selected the trials to be included in the review, assessed methodological quality of each trial and extracted data using a standardised form. Because of several limitations, narrative synthesis was used at this stage. MAIN RESULTS: One study was included with 17 patients aged 10 to 41 years with an infective exacerbation by Pseudomonas aeruginosa. All their 31 admissions were analysed as independent events. Outcomes were measured at 21 days of follow-up after initiation of treatment. Home patients had fewer investigations performed than hospital patients (p<0.002) and general activity was higher in the home group. No differences were found for clinical outcomes, adverse events, complications of intravenous lines or line changes or time to next admission. Home patients received less low-dose home maintenance antibiotic. Quality of life measures showed no differences for dyspnoea and emotional state, but fatigue and mastery were worse for home patients, possibly due to a higher general activity and need of support. Personal, family, sleeping and eating disruptions were less important for home than hospital admissions. Home therapy was cheaper for families and the hospital. Indirect costs were not determined. REVIEWER'S CONCLUSIONS: The current evidence is restricted to one small study. It suggests that in the short term home therapy does not harm patients and in general reduces social disruptions. The decision to attempt home treatment should be based on an individual basis and appropriate local resources. More research is urgently required.

Adult↗
PubMed2003

Osteoporosis in Canadian adult cystic fibrosis patients: a descriptive study.

BACKGROUND: Cystic fibrosis is the most common fatal autosomal recessive genetic disease in the Caucasian population. Osteoporosis is increasingly being recognised as an important complication in people with cystic fibrosis. METHODS: A descriptive study of adult cystic fibrosis patients receiving care at a Canadian tertiary care hospital was conducted to evaluate the prevalence of osteoporosis, the prevalence of non-vertebral fractures, and the change in bone mineral density during the course of a year. Data on bone mineral density were obtained for 40 adult cystic fibrosis patients by reviewing dual x-ray absorptiometry scans taken at baseline (when annual scans became standard clinical practice) and one year prior to baseline. Data on prevalent fractures were obtained by reviewing all available patient charts. Clinical and laboratory data were collected from an existing clinic database. RESULTS: Over half of the 40 patients had reduced T- and Z-scores at baseline. For the 27 patients who had data available one year prior to baseline, total hip and lumbar spine bone mineral density had decreased by 3.04% and 0.86% after one year while total body bone mineral density had not changed significantly. Four prior non-vertebral fractures were reported in three patients (1,146 patient-years). CONCLUSION: This study confirms that osteoporosis is a significant problem in adult cystic fibrosis patients, and constitutes the first published evidence of cystic fibrosis bone disease in Canadians.

Adult↗
PubMed1997

A novel model for the first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator.

Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The most frequent mutation is the deletion of F508 in the first nucleotide binding fold (NBF1). It induces a perturbation in the folding of NBF1, which impedes posttranslational maturation of CFTR. Determination of the three-dimensional structure of NBF1 would help to understand this defect. We present a novel model for NBF1 built from the crystal structure of bovine mitochondrial F1-ATPase protein. This model gives a reasonable interpretation of the effect of mutations on the maturation of the protein and, in agreement with the CD data, leads to reconsideration of the limits of NBF1 within CFTR.

Amino Acid Sequence↗
PubMed2002

Domain-domain associations in cystic fibrosis transmembrane conductance regulator.

Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR is a chloride channel whose activity requires protein kinase A-dependent phosphorylation of an intracellular regulatory domain (R-domain) and ATP hydrolysis at the nucleotide-binding domains (NBDs). To identify potential sites of domain-domain interaction within CFTR, we expressed, purified, and refolded histidine (His)- and glutathione-S-transferase (GST)-tagged cytoplasmic domains of CFTR. ATP-binding to his-NBD1 and his-NBD2 was demonstrated by measuring tryptophan fluorescence quenching. Tryptic digestion of in vitro phosphorylated his-NBD1-R and in situ phosphorylated CFTR generated the same phosphopeptides. An interaction between NBD1-R and NBD2 was assayed by tryptophan fluorescence quenching. Binding among all pairwise combinations of R-domain, NBD1, and NBD2 was demonstrated with an overlay assay. To identify specific sites of interaction between domains of CFTR, an overlay assay was used to probe an overlapping peptide library spanning all intracellular regions of CFTR with his-NBD1, his-NBD2, and GST-R-domain. By mapping peptides from NBD1 and NBD2 that bound to other intracellular domains onto crystal structures for HisP, MalK, and Rad50, probable sites of interaction between NBD1 and NBD2 were identified. Our data support a model where NBDs form dimers with the ATP-binding sites at the domain-domain interface.

Amino Acid Sequence↗
PubMed1991

What do young people think about screening for cystic fibrosis?

We investigated the knowledge of cystic fibrosis and the views about neonatal and carrier screening in 216 school students aged 14 to 16 years. This work was completed before the published identification of the cystic fibrosis gene in September 1989. Although initial knowledge of cystic fibrosis was low (only 17% of the students knew that the disease affected the lungs), there was good recall of basic information about cystic fibrosis and of recessive inheritance after a brief lecture. A total of 86% considered that carrier detection should be offered routinely and 88% felt that an offer of prenatal diagnosis for cystic fibrosis should be made if both prospective parents were known to be carriers. We believe that pilot studies of cystic fibrosis carrier screening in schools should be undertaken.

Adolescent↗
PubMed1995

Analysis of restriction fragment length polymorphism and ribotyping of multiresistant Stenotrophomonas maltophilia isolated from persisting lung infection in a cystic fibrosis patient.

A cystic fibrosis patient was infected by Stenotrophomonas maltophilia over at least 15 months. The bacteria became increasingly resistant to antimicrobial agents. Determination of restriction fragment length polymorphism and ribotyping showed that resistance was due to changes in that S. maltophilia rather than to infection by another strain.

Adult↗
PubMed2006

Prolastin aerosol therapy and sputum taurine in cystic fibrosis.

BACKGROUND: Neutrophil elastase in the cystic fibrosis airways inhibits opsonophagocytosis and induces the expression of interleukin-8, a neutrophil chemoattractant. Prolastin is a therapeutic preparation of alpha-1 proteinase inhibitor (alpha1,-PI), a neutrophil elastase inhibitor. The objective of this study was to determine the effects of Prolastin aerosol therapy on airway inflammation in cystic fibrosis. METHODS: The primary endpoint of this study was sputum taurine, an amino-acid present in high concentrations in neutrophils. Sputum taurine correlates with respiratory exacerbations of cystic fibrosis. Seventeen patients with cystic fibrosis were each assigned to three sequential 10-day periods including first, aerosol therapy of 5 ml saline solution bid; second, aerosol therapy of 250 mg Prolastin bid; third, no aerosol therapy. On days 8, 9 and 10 of each period, early morning sputum was collected for the quantification of alpha1-PI, neutrophil elastase activity, IL-8 and taurine. RESULTS: During Prolastin therapy, a 3-fold increase in sputum alpha1-PI was observed (P = 0.002). Baseline values of sputum alpha1-PI correlated with the values obtained after Prolastin aerosol (R = 0.77, P < 0.01). Sputum neutrophil elastase activity remained unchanged but taurine decreased after Prolastin therapy (during therapy P = 0.052, after therapy P = 0.026). Prolastin aerosol therapy had no adverse effect on pulmonary function. CONCLUSIONS: Aerosol therapy with Prolastin in patients with cystic fibrosis leads to a progressive decrease in sputum taurine. This suggests that even in the absence of sustained elastase inhibition, Prolastin aerosol therapy may have a beneficial effect on airway inflammation in patients with cystic fibrosis.

Administration, Inhalation↗
PubMed1996

Regulation of epithelial sodium channels by the cystic fibrosis transmembrane conductance regulator.

Cystic fibrosis airway epithelia exhibit enhanced Na+ reabsorption in parallel with diminished Cl- secretion. We tested the hypothesis that the cystic fibrosis transmembrane conductance regulator (CFTR) directly affects epithelial Na+ channel activity by co-incorporating into planar lipid bilayers immunopurified bovine tracheal CFTR and either heterologously expressed rat epithelial Na+ channel ( alpha,b eta,gamma-rENaC) or an immunopurified bovine renal Na+ channel protein complex. The single channel open probability (Po) of rENaC was decreased by 24% in the presence of CFTR. Protein kinase A (PKA) plus ATP activated CFTR, but did not have any effect on rENaC. CFTR also decreased the extent of elevation of the renal Na+ channel Po following PKA-mediated phosphorylation. Moreover, the presence of CFTR prohibited the inward rectification of the gating of this renal Na+ channel normally induced by PKA-mediated phosphorylation, thus down-regulating inward Na+ current. This interaction between CFTR and Na+ channels occurs independently of whether or not wild-type CFTR is conducting anions. However, the nonconductive CFTR mutant, G551D CFTR, cannot substitute for the wild-type molecule. Our results indicate that CFTR can directly down-regulate single Na+ channel activity, thus accounting, at least in part, for the observed differences in Na+ transport between normal and cystic fibrosis-affected airway epithelia.

Adenosine Triphosphate↗
PubMedDate not supplied

Cystic fibrosis screening strategies.

Cystic fibrosis is the most common single gene disorder in Western populations. With the discovery of the principal genetic mutations responsible for the disease, screening has become feasible. The challenge is now to devise an effective screening strategy. Various approaches are possible, and each has its own merits, but on balance antenatal screening would appear to be the most practical.

Cystic Fibrosis↗
PubMed2002

Endocrine complications of cystic fibrosis.

Patients with cystic fibrosis (CF) are now living longer, with a median survival of 32 years in 2000. With longer life expectancy and improved treatments for pulmonary disease, other complications of CF are becoming more apparent. The primary endocrine complications affecting adolescents with CF include (1) poor growth and pubertal development, (2) CF-related diabetes, and (3) poor bone mineralization. This chapter discusses pathophysiology, screening, and treatment of endocrine complications of CF.

Adolescent↗
PubMed2004

Cystic fibrosis in a Bangladeshi child.

Cystic fibrosis is one of the common lives limiting inherited diseases in Caucasians population. Recent reports suggest that the diagnosis of cystic fibrosis in this part of the world is missed or delayed due to low index of suspicion. A case of cystic fibrosis is reported here who is a Bangladeshi girl of nine-month-old who presented with the complaints of persistent cough, respiratory distress and failure to thrive. Diagnosis was made on the basis of sweat chloride estimation and mutation analysis, both of which were done, from abroad. She was put on pancreatic enzyme supplementation and nebulized bronchodilators. Cystic fibrosis though rare in Bangladesh its possibility is to be kept in mind in appropriate clinical circumstances

Bangladesh↗
PubMed1985

[Surgical treatment of portal hypertension in patients with cystic fibrosis].

Patients with cystic fibrosis involving the liver may develop esophageal varices with the risk of major bleeding. As the pulmonary disease is progressive, treatment of the varices should achieve definite protection from bleeding by portal decompression. In three 17-18 year-olds splenectomy with splenorenal anastomosis was carried out without mortality or relevant morbidity. Two patients had had previous episodes of bleeding. The patients were followed up for 15, 15 and 42 months respectively. The varices disappeared or regressed in size, and no bleeding or side effects of the shunt were observed.

Adolescent↗
PubMed2006

Superior vena cava syndrome related to indwelling intravenous catheters in patients with cystic fibrosis.

Patients with cystic fibrosis (CF) often need long-term implanted vascular-access devices for intravenous antibiotics for chronic lower respiratory tract infections. These devices are not without complications, including infection, occlusion, and vascular thrombosis. Such thrombosis can result in superior vena cava (SVC) syndrome due to the position of the catheter proximal to the right atrium. SVC syndrome in CF patients, however, is rarely reported in the literature, suggesting that its incidence is uncommon. We describe three patients with SVC syndrome as a consequence of implanted vascular-access devices.

Adult↗