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Results for “CYSTIC FIBROSIS”

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PubMedDate not supplied

Prolactin action in cystic fibrosis.

The pathophysiology of cystic fibrosis (CF), the secretory properties of CF cells and conductance studies of CF cells and membranes suggest that the basic defect of CF is an abnormality of regulation affecting a broad spectrum of functions. Prolactin (PRL) was proposed as the putative regulatory factor, because the multifarious activities of PRL, especially the well documented osmo- and electrolyte regulatory effects, can be related to all of the symptoms of CF. These include salt loss in sweat, abnormal mucus production, impaired intestinal digestion and absorption, male infertility, delayed puberty, failure to thrive, etc. Additionally those tissues in lower vertebrates in which PRL activity has been demonstrated are phylogenetically related to many of the tissues affected in CF.

Chlorides↗

PubMed1992

Screening for cystic fibrosis.

Neonatal screening for cystic fibrosis (CF) reduces short-term morbidity but its long term effects remain to be demonstrated. The best available method is the assay of immunoreactive trypsin in dried blood spots, and specificity can be improved by adding direct or indirect genetic analysis. Pregnancies known to be at risk of CF can also be screened by molecular methods, and affected pregnancies terminated. The application of genetic testing to whole communities, to detect unknown heterozygotes, raises many questions which require consideration by society and the health professions. The development of effective treatment of the basic abnormality of cell function in CF would enhance the need for neonatal screening, and possibly reduce the requirement for abortion.

Cystic Fibrosis↗

PubMedDate not supplied

Cystic fibrosis: a current review.

Cystic fibrosis (CF) is the most common severe genetic disorder seen in Caucasians. Defective exocrine gland secretions result in chronic diseases of the respiratory and gastrointestinal systems. However, the CF gene recently has been located and cloned. Currently, genetic technology allows identification of sibling carriers and antenatal diagnosis within families. Oral implications associated with CF include enamel hypoplasia and tooth discoloration, salivary gland involvement, reduced incidence of dental caries, reservoir for potentially pathogenic respiratory bacteria, mouth breathing, and anterior open bite associated with nasal and sinus obstruction. Continued efforts to improve early diagnosis and treatment of CF should increase life expectancy. Affected patients are expected to seek regular dental care more frequently as they learn to view the disease as manageable.

Cystic Fibrosis↗

PubMed2003

Newborn screening for cystic fibrosis.

Early diagnosis of cystic fibrosis (CF) provides an opportunity to improve disease control and prevent early complications. Of patients with CF in the United States, 10% are identified early through newborn screening (including infants born in Colorado, Massachusetts, New Jersey, New York, Wisconsin, Wyoming, and parts of California, Connecticut, Pennsylvania, and Montana). Successful screening programs in these states have stimulated other states to consider adding CF screening to their newborn programs. Additionally, new technology permits expanded screening for numerous genetic conditions. Genetic screening, such as that used most frequently for CF, creates new challenges for the clinician, including atypical disease presentations and carrier detection. In this review, we examine the many advances in CF newborn screening and early care that were reported during the last few years.

Cystic Fibrosis↗

PubMed1994

Chloride deficiency as a presentation or complication of cystic fibrosis.

Thirteen children with cystic fibrosis (CF), aged 1.5 months-15 years, had 18 episodes of hypochloraemia and metabolic alkalosis over the period 1983-1991. Five patients were not known to have CF prior to developing these electrolyte disturbances. There were two distinct clinical presentations: 5 patients had an acute isolated picture of heat exhaustion while 8 patients (all infants) had a more chronic course associated with failure to thrive. Many episodes were not associated with particularly high environmental temperatures, although most occurred during the summer and early autumn months. Serum electrolytes should be assessed regularly in children with CF, and this diagnosis should be considered in any infant presenting with unexplained hypochloraemic metabolic alkalosis.

Acute Disease↗

PubMed1989

Relationship of hypergammaglobulinemia, circulating immune complexes, and histocompatibility antigen profiles in patients with cystic fibrosis.

Among patients with cystic fibrosis (CF), those in the subset who develop hypergammaglobulinemia and circulating immune complexes often have relatively severe disease and a decreased likelihood of survival. Because Fc receptors have an important role in the removal of immune complexes and because defective Fc receptor function has been associated with inheritance of the histocompatibility antigens HLA DR2 and HLA DR3, we postulated that HLA DR2 and/or HLA DR3 might be genetic markers for this subset of patients with CF. However, in a group of 20 carefully documented patients with CF, we found no association of HLA DR2 or HLA DR3 with serum immunoglobulin, immune complex levels, or evidence of rapidly progressive disease.

Adolescent↗

PubMed1994

Liver transplantation for hepatic cirrhosis in cystic fibrosis.

Five children with cystic fibrosis complicated by hepatic cirrhosis received liver grafts. They all had portal hypertension with varices and three had variceal bleeding; respiratory function was only moderately impaired, but four were colonised with pseudomonas and one with aspergillus. Liver transplantation was well tolerated and there was no increase in respiratory or other early postoperative complications. Four of the children were fully well from 14 to 35 months after transplantation; the most recently transplanted had problems from a biliary stricture. In spite of the need for immunosuppression there was no increase in infection and respiratory function improved or remained stable. Once the children were stabilised after transplantation their nutrition and general health were greatly improved.

Adolescent↗

PubMed1986

Immediate and prolonged clinical efficacy of ceftazidime versus ceftazidime plus tobramycin in chronic Pseudomonas aeruginosa infection in cystic fibrosis.

20 patients with cystic fibrosis and chronic bronchopulmonary infection due to Pseudomonas aeruginosa entered a randomized cross-over study comparing ceftazidime (150 mg/kg body weight/24 h) plus tobramycin (10 mg/kg body weight/24 h) to ceftazidime alone (150 mg/kg body weight/24 h), both given intravenously for 2 weeks. 17 patients completed the study; both treatment regimens improved lung function and decreased the WBC count. No difference in clinical efficacy was found between the treatments. Pulmonary function returned to pre-treatment levels 3 months later with no difference between the treatments. No changes were seen in minimal inhibitory concentrations during treatment. None of the patients developed hypersensitivity or experienced serious adverse reactions to the drugs.

Adult↗

PubMedDate not supplied

Feeding-induced changes in energy expenditure in children with cystic fibrosis.

Seven children with cystic fibrosis (aged 7 to 12 years) were studied in the fasted and fed states. Using a primed, constant, intravenous infusion of NaH13CO3, the rate of appearance of CO2 (RaCO2) was estimated. Net CO2 excretion (VCO2) was also measured. Energy expenditure was calculated using the food quotient. RaCO2 (mean +/- SD) (mumol.kg-1.min-1) in the fasted and fed states (297 +/- 59 and 359 +/- 67) was 117% and 105% of VCO2 (259 +/- 48 and 352 +/- 72). Feeding induced a 23% and a 37% increase in RaCO2 and VCO2, respectively, and respective 19% and 33% increases in energy expenditure (p < .05). Measurement of CO2 production by isotopic dilution is a useful index of group changes in energy expenditure, including those induced by feeding.

Body Temperature Regulation↗

PubMed1989

Increased bronchial chloride concentration in cystic fibrosis.

Ten patients with cystic fibrosis (CF) and 10 patients with severe chronic bronchitis were analysed for bronchial electrolyte composition. Samples aspirated from the left main bronchus by a fibre-optic bronchoscope were dissolved in an iso-osmolar solution of N-acetylcysteine, and separated from cells and bacteria by gentle centrifugation. The concentrations of potassium and calcium were measured by flame emission and atomic absorption spectrometry, and found to be similar in both groups of patients. The mean concentration of chloride, measured by coulometric titration, was significantly higher in patients with CF than in patients with chronic bronchitis (170 vs. 85 mmol l-1, p less than 0.01). The findings are consistent with a functional abnormality of the chloride channels of the airway epithelium in patients with CF.

Adult↗

PubMed1999

Carrier screening for cystic fibrosis: a perinatal perspective.

Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in the United States today. One in 29 Americans, greater than 10 million people of Caucasian ethnicity, is a carrier for this genetic condition. Although it has been 10 years since the discovery of the gene for CF, carrier screening is not yet a standard of practice. The ultimate goal of carrier testing is to provide individuals at risk with information and guidance that will permit them to make informed and independent decisions. It can be anticipated that perinatal nurses will be part of the process of carrier screening of CF for prenatal patients. This article describes the nature of CF, the options for testing, and the basics of the molecular testing so nurses can be instrumental in the education process when this becomes standard practice.

Adult↗

PubMed1984

Antibody to Pseudomonas aeruginosa mucoid exopolysaccharide and to sodium alginate in cystic fibrosis serum.

Antibodies in cystic fibrosis (CF) sera to Pseudomonas aeruginosa mucoid exopolysaccharide and to sodium alginate (a polysaccharide from seaweed chemically similar to mucoid exopolysaccharide) were measured in sera of CF patients to determine if the exopolysaccharide is immunogenic. An enzyme-linked immunosorbent assay was used to test sera from 26 CF patients (18 colonized with pseudomonas and eight non-colonized) and 26 healthy controls. CF patients colonized with pseudomonas had more antibody to mucoid exopolysaccharide (P = 0.0008) and to sodium alginate (P = 0.0008) than did non-colonized CF patients. Virtually none was found in healthy controls. Duration of colonization was correlated with the level of antibody to sodium alginate (P = 0.003) but not with antibody to mucoid exopolysaccharide. Mucoid exopolysaccharide is immunogenic in patients with CF.

Adolescent↗

PubMed1981

Azlocillin with and without an aminoglycoside against respiratory tract infections in children with cystic fibrosis.

Nine patients with cystic fibrosis have been treated with azlocillin alone and later with azlocillin combined with an aminoglycoside (gentamicin or tobramycin) for 50 treatment courses. In the initial series when azlocillin was employed alone, a gradual increase in MIC during successive courses was observed in Pseudomonas aeruginosa. When the beta-lactam antibiotic was combined with an aminoglycoside, the MIC was either maintained or reduced. Objective criteria like peak expiratory flow, erythrocyte sedimentation rate, fever, body weight or bacterial cultures could not clearly identify the combination therapy as better clinically than azlocillin monotherapy. However, the patients subjective and our clinical impression is that the combination therapy was better. The clinical course and the lack of increased resistance on combination therapy make a combination of azlocillin and an aminoglycoside preferable to the beta-lactam alone.

Aminoglycosides↗

PubMedDate not supplied

Acute lymphoblastic leukaemia in a child with cystic fibrosis.

The association of cystic fibrosis (CF) and acute lymphoblastic leukaemia (ALL) is extremely rare. Only three cases have been reported in the literature and all of them had a fatal outcome. In this paper we describe the case of a little girl who was diagnosed with CF (mild course) when she was five months old, and who presented at the age of five years with ALL (intermediate risk). Complete Remission (CR) was rapidly obtained with standard chemotherapy for ALL.; treatment was continued for two years without major complications and with no apparent influence on the course of CF. The patient remains alive and well and in continuous CR four years after discontinuing treatment, and six years after the diagnosis of ALL.

Antineoplastic Combined Chemotherapy Protocols↗

PubMed1991

Defective protein kinase C-mediated actions in cystic fibrosis neutrophils.

Neutrophils from cystic fibrosis (CF) patients have been shown previously to be defective in their response (beta-glucuronidase exocytosis, NADPH oxidase activation) to the chemotactic peptide FMLP. In this work, we attempted to identify the defective step in this response. We showed that stimulated CF and control neutrophils do not differ in the formation of inositol phosphates. On the other hand, direct stimulation of protein kinase C with phorbol myristate acetate (PMA) revealed a subnormal stimulation of beta-glucuronidase exocytosis in CF neutrophils. Furthermore, retroinhibition exerted by PMA-activated protein kinase C on stimulated inositol phosphates or on beta-glucuronidase exocytosis was marginal or absent in CF neutrophils, whereas it was significant in the case of control neutrophils. Our observations suggest that the CFTR gene is expressed in neutrophils and is involved in protein kinase C-mediated actions.

Cystic Fibrosis↗

PubMed1987

Correlates of psychosocial adjustment among young adults with cystic fibrosis.

Young adults with cystic fibrosis (CF) (n = 73) were found to have age-adequate psychological functioning. Psychological adjustment, as measured by the Psychological Screening Inventory (PSI) and the Tennessee Self-Concept Inventory (TSCI), correlated with coping style as measured by the Repression-Sensitization (R-S) scale. A repressive or avoidant coping style was associated with higher self-esteem, lower alienation and discomfort, and greater social activity, but not with employment status or school attendance. Severely ill patients were less likely to be employed or in school, and showed higher levels of psychological discomfort. Physicians' ratings of coping effectiveness were positively related to a repressive illness-related coping style. Prospective assessment of psychological functioning would yield useful information concerning the coping strategies used by young adults with CF to ameliorate the psychological distress associated with physical deterioration.

Adolescent↗

PubMed1993

Prospects for virus-based gene therapy for cystic fibrosis.

Gene therapy for cystic fibrosis (CF) could potentially be accomplished with one of several recombinant virus vectors, including a murine retrovirus (MMuLV), adenovirus, or adeno-associated virus (AAV). All these vectors take advantage of their respective viruses' mechanisms for delivery of viral DNA to cells, evasion of lysosomal degradation, and optimization of the levels and duration of expression of viral (or vector) DNA. Each has its own unique life cycle, however. The differences among these viruses result in certain advantages and disadvantages, such as the requirement of retroviruses for active cell division, and the potential pathogenic effects from expression of certain adenovirus genes present in adenovectors. While no single vector may be optimal for CF gene therapy in humans, new techniques, such as receptor-mediated gene transfer, seek to take advantage of the desirable properties of one or more of the virus-based systems while avoiding certain potential hazards.

Adenoviruses, Human↗

PubMed1998

Cystic fibrosis and lens opacity.

Cystic fibrosis (CF) is a fairly common lethal genetic disease in whites, inherited via an autosomal recessive pattern. Several clinically evident anomalies of the eye such as xerophthalmia, papilledema, retinal alterations and optic neuropathy have been described. In the present study we investigated lens changes in 40 patients affected by CF, to relate the results to the stage of digestive insufficiency. Each patient underwent an accurate ocular examination including visual acuity, slit-lamp examination, and measurement of lens transparency with the Opacity Lens Meter 701. The results were compared with those of an age- and sex-matched control group. The comparison between the lens opacity values obtained in the CF patients and those measured in the control group showed a statistically significant difference; moreover, lens transparency was more decreased in patients with severe digestive insufficiency.

Adolescent↗