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Sample records for adult cystic fibrosis

  1. Laparoscopic cholecystectomy in adult cystic fibrosis.

    LENUS (Irish Health Repository)

    McGrath, D S

    2012-02-03

    Two female patients with Cystic Fibrosis, attending the Adult Regional Cystic Fibrosis centre at the Cork University Hospital, were investigated for upper abdominal pain and found to have gallstones at ultrasonography. Laparoscopic cholecystectomy was performed successfully and, without complication, in both patients.

  2. Sarcoidosis in an adult with cystic fibrosis.

    OpenAIRE

    Rettinger, S D; Trulock, E. P.; MacKay, B.; Auerbach, H S

    1989-01-01

    Sarcoidosis in an adult patient with cystic fibrosis lung disease was diagnosed on the basis of pulmonary function and radiographic data. It should be considered in the differential diagnosis of new diffuse interstitial infiltrates or hilar adenopathy in a patient with cystic fibrosis; biopsy of lung, lymph node, or skin lesions and interleukin-2 receptor levels may help to obtain a diagnosis.

  3. Communicating with young adults with cystic fibrosis.

    OpenAIRE

    Webb, A. K.

    1995-01-01

    The care of the young adult with cystic fibrosis is complex, requiring a multidisciplinary input from different carers. Communication with and education of patients covers many areas; topics may include medical and personal problems, transplantation, survival, current scientific breakthroughs and the future. Communicating in these areas with knowledgeable young adults requires skill, tact and self-education upon the part of the cystic fibrosis team.

  4. Diagnosis of Adult Patients with Cystic Fibrosis.

    Science.gov (United States)

    Nick, Jerry A; Nichols, David P

    2016-03-01

    The diagnosis of cystic fibrosis (CF) is being made with increasing frequency in adults. Patients with CF diagnosed in adulthood typically present with respiratory complaints, and often have recurrent or chronic airway infection. At the time of initial presentation individuals may appear to have clinical manifestation limited to a single organ, but with subclinical involvement of the respiratory tract. Adult-diagnosed patients have a good response to CF center care, and newly available cystic fibrosis transmembrane receptor-modulating therapies are promising for the treatment of residual function mutation, thus increasing the importance of the diagnosis in adults with unexplained bronchiectasis. PMID:26857767

  5. Living with Cystic Fibrosis: A Guide for the Young Adult.

    Science.gov (United States)

    Cystic Fibrosis Foundation, Atlanta, GA.

    Intended for the young adult with cystic fibrosis, the booklet provides information on dealing with problems and on advances in treatment and detection related to the disease. Addressed are the following topics: description of cystic fibrosis; inheritance of cystic fibrosis; early diagnosis; friends, careers, and other matters; treatment;…

  6. Cystic fibrosis*

    OpenAIRE

    1985-01-01

    Cystic fibrosis represents a major health problem in developed countries. Although its distribution is worldwide, in most developing countries there is little awareness of its prevalence and little opportunity to provide treatment. The improvements in survival of cystic fibrosis patients in developed countries over the past two decades have brought mean life expectancy to 20 years or more, and many adult patients with cystic fibrosis at present are fully integrated in society and have an acce...

  7. The diffusing capacity in adult cystic fibrosis.

    Science.gov (United States)

    Espiritu, J D; Ruppel, G; Shrestha, Y; Kleinhenz, M E

    2003-06-01

    The value of adjusting the diffusing capacity for the lung volume has been demonstrated in a large number of patients with other lung diseases but has not been validated in patients with cystic fibrosis (CF). Pulmonary function test results on a cohort of 52 adult CF patients were analyzed to determine whether the diffusing capacity of carbon monoxide by single breath method (DLCO(SB)) when adjusted for alveolar volume (V(A)%), correlated with the severity of pulmonary dysfunction. The DLCO(SB) remained within the reference range except in those with severe lung impairment (61.88 +/- 15.48%). DLCO(SB) has a significant (P V/Q relationship due to claustration in CF. PMID:12814143

  8. Abdominal manifestations of cystic fibrosis in adults: a review

    International Nuclear Information System (INIS)

    Gastrointestinal manifestations of disease are present in most adults with cystic fibrosis. Radiologists are familiar with the classical imaging characteristics of end-stage pulmonary disease and the radiological findings of meconium ileus in neonates. As most patients now live into adulthood, recognition of the imaging appearances of abdominal disease is important to enable prompt diagnosis and treatment. Accordingly, this article presents typical imaging appearances of the adult gastrointestinal manifestations of cystic fibrosis. Copyright (2004) Blackwell Science Pty Ltd

  9. Ciprofloxacin-induced phototoxicity in an adult cystic fibrosis population.

    Science.gov (United States)

    Tolland, Julia P; Murphy, Bryan P; Boyle, Julie; Hall, Valerie; McKenna, Kevin E; Elborn, J Stuart

    2012-10-01

    The incidence of phototoxicity as a side effect of ciprofloxacin appears to be increased in patients with cystic fibrosis compared to the general population (approximately 2.4%). We used an interview-based questionnaire to determine the incidence of such phototoxic skin reactions in cystic fibrosis patients. Results from 105 respondents revealed the incidence of ciprofloxacin-induced phototoxicity in the adult cystic fibrosis population in Northern Ireland to be 48.4% with only 66% of the patients recalling being given sun care information beforehand. We concluded that the incidence of phototoxicity is increased in patients with cystic fibrosis and that it is important for all to receive good sun care information prior to taking ciprofloxacin given the high risk of developing phototoxic rash. PMID:22971191

  10. Fungal atopy in adult cystic fibrosis.

    LENUS (Irish Health Repository)

    Henry, M

    2012-02-03

    This study set out to estimate the prevalence of atopy to a variety of common ubiquitous fungi, including A. fumigatus, in cystic fibrosis (CF), and to evaluate the investigations by which the diagnosis was made. Particular attention was paid to the usefulness of skin testing and immunoassays in detecting which patients had simple fungal atopy, and which patients were at high risk of developing allergic bronchopulmonary mycoses. This cross-sectional study included 21 adult CF patients and 20 matched controls. Serum samples were taken for the measurement of total serum IgE and specific serum IgE to nine common fungi. Immediate hypersensitivity skin prick testing to each of the fungi was also performed. Simple fungal atopy was described in subjects fulfilling the following criteria: total serum IgE > 100 KU l(-1) with specific radioimmunoassay > or = grade 1 to at least one fungus and a positive skin prick test (SPT) > or = 3 mm to the same fungus. \\'High risk\\' for developing allergic bronchopulmonary mycosis (ABPM) was described in subjects fulfilling the following criteria: total serum IgE > 200 KU l(-1) with specific radioimmunoassay > or = grade 2 to at least one fungus and a positive skin prick test (SPT) > or = 6 mm to the same fungus. The adult CF group had a significantly higher total SPT score (P=0.005) and mean total serum IgE (P<0.05) than controls. Forty-three percent of CF patients fulfilled the criteria for fungal atopy to at least a single fungus. Over half this group had an atopic tendency to more than one fungus. Nineteen percent of the CF group were at least \\'high risk\\' of developing ABPM. Skin prick testing is a better marker of fungal atopy and a better predictor of those adult CF patients at higher risk of developing ABPM than specific radioimmunoassay serum testing. There is a high prevalence of fungal atopy in the adult CF population. Total serum IgE and skin prick testing are good predictors of fungal atopy and help predict those at

  11. Cystic fibrosis

    OpenAIRE

    2004-01-01

    In the 1930s, when cystic fibrosis (CF) was first clearly recognised, it was a disorder that inevitably led to death in early childhood from respiratory failure and malnutrition. Since that time, antibiotic treatment and improving nutrition have brought increasing hope to sufferers from the disorder, so that increasing numbers of children have lived on into adult life. Chaired by Professor John Walker-Smith, and attended by a group of leading experts in field at the time, this transcript disc...

  12. Compliance with treatment in adult patients with cystic fibrosis.

    OpenAIRE

    Conway, S P; Pond, M. N.; Hamnett, T.; Watson, A.

    1996-01-01

    BACKGROUND: Patients with chronic disease comply with about 50% of their treatment. The complex and time consuming daily drug regimens needed in the care of adult patients with cystic fibrosis encourage non-compliance with prescribed treatments. Understanding the reasons for, and the extent of, non-compliance is essential for a realistic appraisal of the patient's condition and sensible planning of future treatment programmes. METHODS: Patients were invited to complete a questionnaire which a...

  13. Expression of the cystic fibrosis gene in adult human lung.

    OpenAIRE

    Engelhardt, J F; Zepeda, M; Cohn, J.A.; Yankaskas, J R; Wilson, J. M.

    1994-01-01

    Critical to an understanding of the pulmonary disease in cystic fibrosis (CF) and the development of effective gene therapies is a definition of the distribution and regulation of CF gene expression in adult human lung. Previous studies have detected the product of the CF gene, the CF transmembrane conductance regulator (CFTR), in submucosal glands of human bronchi. In this report, we have characterized the distribution of CFTR RNA and protein in the distal airway and alveoli of human lungs. ...

  14. Cough in adult cystic fibrosis: diagnosis and response to fundoplication

    OpenAIRE

    Fathi, Hosnieh; Moon, Tanya; Donaldson, Jo; Jackson, Warren; Sedman, Peter; Morice, Alyn H

    2009-01-01

    Background Gastroesophageal reflux is one of the most common causes of chronic cough in the general population. Reflux occurs frequently in patients with cystic fibrosis (CF). We undertook laparoscopic Nissen fundoplication in adult CF patients with a clinical diagnosis of reflux cough who had failed conventional medical therapies. Objective We determined the response to the surgical route in the treatment of intractable reflux cough in CF. Method Patients with refractory cough were assessed ...

  15. Cystic Fibrosis

    Science.gov (United States)

    ... mucus and needs to spit it out. In gym class, she participates in sports but often gets ... make normal mucus, the body needs a special protein. This protein is defective in cystic fibrosis, producing ...

  16. Psychosocial functioning of young adults with cystic fibrosis and their families.

    OpenAIRE

    Blair, C; Cull, A; Freeman, C P

    1994-01-01

    BACKGROUND--The psychosocial functioning of adolescents and young adults with cystic fibrosis still living in the parental home was investigated. With its proven genetic aetiology cystic fibrosis is an ideal model with which to assess the impact of a chronic and life threatening disorder on family and individual psychological and social functioning. METHODS--Twenty nine patients with cystic fibrosis and their families were compared with those of 27 patients with anorexia nervosa and 31 well c...

  17. Non-Invasive Evaluation of Cystic Fibrosis Related Liver Disease in Adults with ARFI, Transient Elastography and Different Fibrosis Scores

    OpenAIRE

    Karlas, Thomas; Neuschulz, Marie; Oltmanns, Annett; Güttler, Andrea; Petroff, David; Wirtz, Hubert; Mainz, Jochen G.; Mössner, Joachim; Berg, Thomas; Tröltzsch, Michael; Keim, Volker; Wiegand, Johannes

    2012-01-01

    Background Cystic fibrosis-related liver disease (CFLD) is present in up to 30% of cystic fibrosis patients and can result in progressive liver failure. Diagnosis of CFLD is challenging. Non-invasive methods for staging of liver fibrosis display an interesting diagnostic approach for CFLD detection. Aim We evaluated transient elastography (TE), acoustic radiation force impulse imaging (ARFI), and fibrosis indices for CFLD detection. Methods TE and ARFI were performed in 55 adult CF patients. ...

  18. Living with Cystic Fibrosis

    Science.gov (United States)

    ... Most of these centers have pediatric and adult programs or clinics. For more information about CF Care Centers, go to the Cystic Fibrosis Foundation's Care Center Network Web page. It's standard to have CF checkups every 3 ...

  19. Multidimensional Clinical Phenotyping of an Adult Cystic Fibrosis Patient Population

    OpenAIRE

    Conrad, Douglas J.; Bailey, Barbara A.

    2015-01-01

    Background Cystic Fibrosis (CF) is a multi-systemic disease resulting from mutations in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene and has major manifestations in the sino-pulmonary, and gastro-intestinal tracts. Clinical phenotypes were generated using 26 common clinical variables to generate classes that overlapped quantiles of lung function and were based on multiple aspects of CF systemic disease. Methods The variables included age, gender, CFTR mutations, FEV1% predicted, FV...

  20. Individualised unsupervised exercise training in adults with cystic fibrosis: a 1 year randomised controlled trial

    OpenAIRE

    Moorcroft, A; Dodd, M; Morris, J; Webb, A

    2004-01-01

    Background: Short term studies of exercise training have shown benefits in cystic fibrosis. Transferring exercise programmes to the community and sustaining them long term is a challenge for the patient. The effectiveness of an individualised unsupervised home based exercise programme was examined in adults with cystic fibrosis over a 1 year period.

  1. Cystic Fibrosis Research

    Science.gov (United States)

    ... please turn Javascript on. Feature: Steady Advances Against Cystic Fibrosis Cystic Fibrosis Research Past Issues / Fall 2012 Table of Contents "Remarkable strides in cystic fibrosis research over the past two decades have culminated ...

  2. Cystic Fibrosis and Pregnancy

    Science.gov (United States)

    ... Complications & Loss > Pregnancy complications > Cystic fibrosis and pregnancy Cystic fibrosis and pregnancy E-mail to a friend Please ... this page It's been added to your dashboard . Cystic fibrosis (CF) is a condition that affects breathing and ...

  3. Liver and lung transplantation in cystic fibrosis: an adult cystic fibrosis centre's experience.

    Science.gov (United States)

    Sivam, S; Al-Hindawi, Y; Di Michiel, J; Moriarty, C; Spratt, P; Jansz, P; Malouf, M; Plit, M; Pleass, H; Havryk, A; Bowen, D; Haber, P; Glanville, A R; Bye, P T P

    2016-07-01

    Liver disease develops in one-third of patients with cystic fibrosis (CF). It is rare for liver disease to have its onset after 20 years of age. Lung disease, however, is usually more severe in adulthood. A retrospective analysis was performed on nine patients. Three patients required lung transplantation approximately a decade after liver transplant, and another underwent combined liver and lung transplants. Four additional patients with liver transplants are awaiting assessment for lung transplants. One patient is awaiting combined liver and lung transplants. With increased survival in CF, several patients may require more than single organ transplantation. PMID:27405894

  4. Subclinical anaemia of chronic disease in adult patients with cystic fibrosis.

    LENUS (Irish Health Repository)

    O'connor, T M

    2012-02-03

    Patients with chronic hypoxaemia develop secondary polycythaemia that improves oxygen-carrying capacity. Therefore, normal haemoglobin and haematocrit values in the presence of chronic arterial hypoxaemia in cystic fibrosis constitute \\'relative anaemia\\'. We sought to determine the cause of this relative anaemia in patients with cystic fibrosis. We studied haematological indices and oxygen saturation in healthy volunteers (n=17) and in adult patients with cystic fibrosis (n=15). Patients with cystic fibrosis had lower resting arterial oxygen saturation when compared with normal volunteers (P<0.0001), and exercise led to a greater reduction in arterial oxygen saturation (P<0.0001). However, haemoglobin and haematocrit values in patients with cystic fibrosis did not significantly differ from normal volunteers. Serum iron (P=0.002), transferrin (P=0.02), and total iron-binding capacity (P=0.01) were lower in patients with cystic fibrosis. There were no significant differences in serum ferritin, percentage iron saturation, serum erythropoietin or red cell volume between the groups. The data presented demonstrate a characteristic picture of anaemia of chronic disease in adult patients with cystic fibrosis, except for normal haemoglobin and haematocrit values. Normal haemoglobin and haematocrit values in patients with cystic fibrosis appear to represent a combination of the effects of arterial hypoxaemia promoting polycythaemia, counterbalanced by chronic inflammation promoting anaemia of chronic disease.

  5. Demographic and social characteristics of adults with cystic fibrosis in the United Kingdom.

    OpenAIRE

    Walters, S.; Britton, J.; Hodson, M E

    1993-01-01

    OBJECTIVE--To obtain information about social and demographic characteristics and lifestyle of adult patients with cystic fibrosis, including those who do not attend major specialist clinics. DESIGN--Confidential self completion postal questionnaire to adult patients with cystic fibrosis, asking about social and demographic characteristics, social class and occupation, employment, education, insurance and social security benefits, symptom severity, and medical care. SETTING--National associat...

  6. What Causes Cystic Fibrosis?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Causes Cystic Fibrosis? A defect in the CFTR gene causes cystic ... in the severity of the disease. How Is Cystic Fibrosis Inherited? Every person inherits two CFTR genes—one ...

  7. Severe Hypercapnia in Critically Ill Adult Cystic Fibrosis Patients

    OpenAIRE

    Sheikh, Hassan S.; Tiangco, Noel Dexter; Harrell, Christopher; Vender, Robert L.

    2011-01-01

    Background Cystic fibrosis (CF) is a monogenetic autosomal recessive multi-organ disease affecting approximately 50,000 patients worldwide. Overall median survival is continually increasing but pulmonary disease remains the most common cause of death. Guidelines have been published in relation to the outpatient maintenance of lung health for CF patients and treatment of acute lung exacerbations but little information exists about the management of the critically ill CF patient. Invasive mecha...

  8. Management of adolescent and adult inpatients with cystic fibrosis.

    Science.gov (United States)

    Sterner-Allison, J L

    1999-01-15

    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. PMID:10030531

  9. Qualitative dimensions of exertional dyspnea in adults with cystic fibrosis.

    Science.gov (United States)

    Quon, Bradley S; Wilkie, Sabrina S; Ramsook, Andrew H; Schaeffer, Michele R; Puyat, Joseph H; Wilcox, Pearce G; Guenette, Jordan A

    2016-08-01

    No studies of cystic fibrosis (CF) have systematically characterized the evolution of the qualitative dimensions of exertional dyspnea. Adults with CF (n = 25) and control individuals matched for sex, age, and body mass index (n = 25) underwent cardiopulmonary cycle exercise testing with a detailed evaluation of ventilatory and dyspnea responses. The qualitative dimensions of dyspnea were examined during each exercise stage by having subjects select phrases that best described their breathing (i.e., "work/effort," "unsatisfied inspiration," and "unsatisfied expiration"). Subjects also selected phrases that described the quality of their breathing at peak exercise using an established 15-item questionnaire, which was then clustered into different categories. Subjects with CF had greater ventilatory requirements, higher end-inspiratory and end-expiratory lung volumes (% total lung capacity), and an earlier inflection/plateau in tidal volume during exercise compared with control subjects. Increased work/effort was the dominant qualitative descriptor in both groups throughout exercise. Unsatisfied inspiration was selected by 48% of subjects with CF and 40% of controls at some point during exercise. The onset of unsatisfied inspiration in these subjects occurred at a significantly lower relative exercise intensity in subjects with CF vs. controls (72 ± 21 vs. 94 ± 11% Wmax, P < 0.01). Chest tightness was the only qualitative descriptor cluster that was selected more frequently by subjects with CF vs. controls (36 vs. 0%, respectively, P < 0.05) at peak exercise. Therapeutic interventions that reduce ventilatory requirements and improve lung volumes may delay the onset of distressing sensations such as unsatisfied inspiration and chest tightness in adults with CF. PMID:27311438

  10. Cystic fibrosis - nutritional considerations

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/002437.htm Cystic fibrosis - nutritional considerations To use the sharing features on this page, please enable JavaScript. Cystic fibrosis (CF) is a life-threatening disease that causes ...

  11. Cystic fibrosis - nutritional considerations

    Science.gov (United States)

    Cystic fibrosis (CF) is a life-threatening disease that causes thick, sticky mucus to build up in the lungs and digestive tract. Persons with cystic fibrosis need to eat high-calorie and high-protein ...

  12. Cystic fibrosis: case report

    International Nuclear Information System (INIS)

    Cystic fibrosis is a autosomal recessive genetic disease. Among caucasians, it is the most common cause of pulmonary insufficiency during the first three decades of life. The prevalence of cystic fibrosis varies according to ethnic origin: it is common among caucasians but rare among Asians. We report a case in which cystic fibrosis with bronchiectasis and hyperaeration was revealed by high-resolution CT, and mutation of the cystic fibrosis conductance transmembrane regulator gene (CFTR) by DNA analysis

  13. Cystic fibrosis: case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Si Hyun; Lee, Hyun Ju; Kim, Ji Hye; Park, Chol Heui [Gachon Medical School, Inchon (Korea, Republic of)

    2002-12-01

    Cystic fibrosis is an autosomal recessive genetic disease. Among Caucasians, it is the most common cause of pulmonary insufficiency during the first three decades of life. The prevalence of cystic fibrosis varies according to ethnic origin: it is common among Caucasians but rare among Asians. We report a case in which cystic fibrosis with bronchiectasis and hyperaeration was revealed by high-resolution CT, and mutation of the cystic fibrosis conductance transmembrane regulator gene (CFTR) by DNA analysis.

  14. An adult cystic fibrosis patient presenting with persistent dyspnea: case report

    Directory of Open Access Journals (Sweden)

    Farinet Catherine L

    2006-05-01

    Full Text Available Abstract Background Persistent dyspnea is a common finding in the cystic fibrosis patient that typically leads to further work up of an alternative pulmonary etiology. Adult cystic fibrosis patients; however, are growing in numbers and they are living into the ages in which coronary artery disease becomes prevalent. Coronary disease should be included in the consideration of diagnostic possibilities. Case presentation A 52-year-old white male with cystic fibrosis was evaluated for exertional dyspnea associated with vague chest discomfort. Diagnostic testing revealed normal white blood cell, hemoglobin and platelet count, basic metabolic panel, fasting lipid profile, HbA1c, with chest radiograph confirming chronic cystic findings unchanged from prior radiographs and an electrocardiogram that revealed sinus rhythm with left anterior fascicular block. Stress thallium testing demonstrated a reversible anteroseptal perfusion defect with a 55% left ventricular ejection fraction. Heart catheterization found a 99% occlusion of the left anterior descending artery extending into the two diagonal branches, with 100% obstruction of the left anterior descending artery at the trifurcation and 70% lesion affecting the first posterior lateral branch of the circumflex artery. Conclusion This case report represents the first description in the medical literature of a cystic fibrosis patient diagnosed with symptomatic coronary artery disease. Applying a standard clinical practice guide proved useful toward evaluating a differential diagnosis for a cystic fibrosis patient presenting with dyspnea and chest discomfort.

  15. Assessing disease disclosure in adults with cystic fibrosis: the Adult Data for Understanding Lifestyle and Transitions (ADULT survey Disclosure of disease in adults with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Modi Avani C

    2010-09-01

    Full Text Available Abstract Background As more patients with cystic fibrosis (CF reach adulthood and participate in age-appropriate activities (e.g. employment, dating, disclosure of medical status becomes more important. This study assessed rates of disclosure and its perceived impact on relationships using the Adult Data for Understanding Lifestyle and Transitions (ADULT online survey. Methods Adults with CF participated in the survey via the United States national network of CF Centers. Descriptive and inferential statistics were utilized. Results Participants (n = 865 were more likely to disclose to relatives (94% and close friends (81% than to dating partners (73%, bosses/supervisors/teachers (51% or co-workers (39%. Respondents generally reported a neutral/positive effect on relationships following disclosure. Negative effects of disclosure were infrequent, but more likely with dating partners or bosses/supervisors/teachers. Results also indicated that disclosure may be influenced by severity of lung disease and gender, with those having normal/mild lung disease less likely to disclose their diagnosis to both co-workers (p Conclusions Most adults with CF disclosed their disease to relatives and close friends. Individuals with severe CF lung disease were more likely to disclose their diagnosis to coworkers and supervisors/teachers. It may be helpful to provide support for disclosure of disease in situations such as employment and dating.

  16. Poetry, Music, Writing and Painting; Developing the artistic talents of Adults with Cystic Fibrosis.

    Science.gov (United States)

    Webb, Anthony Kevin; Fitzjohn, Joan

    2016-01-01

    Art is an expressive outlet for the physical limitations and emotional frustrations of living with a life limiting condition such cystic fibrosis. In the Manchester Adult Cystic Fibrosis Centre we have facilitated the sharing of the inherent artistic talent of our patients with the support of painters, musicians, potters, creative writers, photographers and textile specialists and our own ward staff in our dedicated 22 bed CF inpatient unit. The programme has provided some splendid works that enliven our ward and, more importantly, continue to inspire our patients as they attempt to overcome the socially limiting consequences of hospital admission. PMID:26527357

  17. Parenting adolescents with cystic fibrosis: the adolescents' and young adults' perspectives

    DEFF Research Database (Denmark)

    Bregnballe, Vibeke; Schiøtz, Peter Oluf; Lomborg, Kirsten

    2011-01-01

    Background: When suffering from cystic fibrosis (CF), a number of problems may arise during adolescence; for example, poor adherence. The problems may be attributed to the adolescent being insufficiently prepared for adult life. Research on different ways of parenting adolescents with CF and the...

  18. How Is Cystic Fibrosis Diagnosed?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. How Is Cystic Fibrosis Diagnosed? Doctors diagnose cystic fibrosis (CF) based on ... tested to see whether the baby has CF. Cystic Fibrosis Carrier Testing People who have one normal CFTR ...

  19. Genetics Home Reference: cystic fibrosis

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions cystic fibrosis cystic fibrosis Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Cystic fibrosis is an inherited disease characterized by the buildup ...

  20. How Is Cystic Fibrosis Treated?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. How Is Cystic Fibrosis Treated? Cystic fibrosis (CF) has no cure. However, ... help oral pancreatic enzymes work better. Treatments for Cystic Fibrosis Complications A common complication of CF is diabetes . ...

  1. Three cases of pulmonary aspergilloma in adult patients with cystic fibrosis.

    OpenAIRE

    Maguire, C. P.; Hayes, J. P.; Hayes, M.; Masterson, J.; FitzGerald, M X

    1995-01-01

    Pulmonary aspergillomas usually occur when Aspergillus fungi colonise lung tissue previously damaged by disease. Pulmonary aspergillomas in three adult patients with cystic fibrosis are reported--an association not previously described. At the time of diagnosis all three patients had previous long term colonisation with Aspergillus fumigatus and severe advanced destructive lung disease with lung function less than 25% of the predicted normal values. It is likely that, with increasing survival...

  2. Effect of exercise and physiotherapy in aiding sputum expectoration in adults with cystic fibrosis.

    OpenAIRE

    Salh, W; Bilton, D.; Dodd, M.; Webb, A K

    1989-01-01

    The role of exercise in aiding sputum expectoration in patients with cystic fibrosis and the comparative roles of exercise and physiotherapy in sputum expectoration were assessed in two studies. In the first study 19 adult patients undertook a two month programme of home exercise using a cycle ergometer. In the 12 patients completing the study peak work capacity, maximum oxygen consumption, and maximum minute ventilation had increased significantly by the end of the exercise programme; the in...

  3. Preferences for Prenatal Tests for Cystic Fibrosis: A Discrete Choice Experiment to Compare the Views of Adult Patients, Carriers of Cystic Fibrosis and Health Professionals

    OpenAIRE

    Melissa Hill; Ranjan Suri; Nash, Edward F; Stephen Morris; Chitty, Lyn S.

    2014-01-01

    As new technologies enable the development of non-invasive prenatal diagnosis (NIPD) for cystic fibrosis (CF), research examining stakeholder views is essential for the preparation of implementation strategies. Here, we compare the views of potential service users with those of health professionals who provide counselling for prenatal tests. A questionnaire incorporating a discrete choice experiment examined preferences for key attributes of NIPD and explored views on NIPD for CF. Adult patie...

  4. Ceramide mediates lung fibrosis in cystic fibrosis

    OpenAIRE

    Ziobro, Regan; Henry, Brian; Edwards, Michael J.; Lentsch, Alex B.; Gulbins, Erich

    2013-01-01

    Fibrosis of the lung is one of the major clinical problems of cystic fibrosis and chronic obstructive pulmonary disease. However, the molecular mechanisms leading to pulmonary fibrosis are poorly characterized and require definition. Here, we demonstrate that chronic accumulation of ceramide in the lung contributes to the development of fibrosis in aged cystic fibrosis mice. Genetic or pharmacological normalization of ceramide in cystic fibrosis mice, which was achieved by heterozygosity of a...

  5. Forced oscillations and respiratory system modeling in adults with cystic fibrosis

    OpenAIRE

    Lima, Adma N; Faria, Alvaro C D; Agnaldo J. Lopes; Jansen, José M; Melo, Pedro L

    2015-01-01

    Background The Forced Oscillation Technique (FOT) has the potential to increase our knowledge about the biomechanical changes that occur in Cystic Fibrosis (CF). Thus, the aims of this study were to investigate changes in the resistive and reactive properties of the respiratory systems of adults with CF. Methods The study was conducted in a group of 27 adults with CF over 18 years old and a control group of 23 healthy individuals, both of which were assessed by the FOT, plethysmography and sp...

  6. The adult cystic fibrosis patient with abdominal pain: what the radiologist needs to know

    Energy Technology Data Exchange (ETDEWEB)

    Liong, S.Y.; Awad, D. [Department of Radiology, University Hospital of South Manchester, Wythenshawe Hospital, Manchester (United Kingdom); Jones, A.M. [Department of Respiratory Medicine, University Hospital of South Manchester, Wythenshawe Hospital, Manchester (United Kingdom); Manchester Academic Health Science Centre, University of Manchester, Manchester (United Kingdom); Sukumar, S.A., E-mail: Sathi.Sukumar@uhsm.nhs.u [Department of Radiology, University Hospital of South Manchester, Wythenshawe Hospital, Manchester (United Kingdom)

    2011-02-15

    As the life expectancy of cystic fibrosis (CF) patients continues to increase, abdominal manifestations of CF are increasingly being encountered by clinicians and radiologists. Imaging plays an important role in the evaluation of adult CF patients with abdominal pain as a cause is often not discernable clinically. Accurate diagnosis is crucial in these patients as some causes may be managed conservatively, whilst others may require surgical intervention. In this review, we describe clinical presentation, imaging findings, and management of adult CF patients presenting with abdominal pain.

  7. The adult cystic fibrosis patient with abdominal pain: what the radiologist needs to know

    International Nuclear Information System (INIS)

    As the life expectancy of cystic fibrosis (CF) patients continues to increase, abdominal manifestations of CF are increasingly being encountered by clinicians and radiologists. Imaging plays an important role in the evaluation of adult CF patients with abdominal pain as a cause is often not discernable clinically. Accurate diagnosis is crucial in these patients as some causes may be managed conservatively, whilst others may require surgical intervention. In this review, we describe clinical presentation, imaging findings, and management of adult CF patients presenting with abdominal pain.

  8. Non-invasive evaluation of cystic fibrosis related liver disease in adults with ARFI, transient elastography and different fibrosis scores.

    Directory of Open Access Journals (Sweden)

    Thomas Karlas

    Full Text Available BACKGROUND: Cystic fibrosis-related liver disease (CFLD is present in up to 30% of cystic fibrosis patients and can result in progressive liver failure. Diagnosis of CFLD is challenging. Non-invasive methods for staging of liver fibrosis display an interesting diagnostic approach for CFLD detection. AIM: We evaluated transient elastography (TE, acoustic radiation force impulse imaging (ARFI, and fibrosis indices for CFLD detection. METHODS: TE and ARFI were performed in 55 adult CF patients. In addition, AST/Platelets-Ratio-Index (APRI, and Forns' score were calculated. Healthy probands and patients with alcoholic liver cirrhosis served as controls. RESULTS: Fourteen CF patients met CFLD criteria, six had liver cirrhosis. Elastography acquisition was successful in >89% of cases. Non-cirrhotic CFLD individuals showed elastography values similar to CF patients without liver involvement. Cases with liver cirrhosis differed significantly from other CFLD patients (ARFI: 1.49 vs. 1.13 m/s; p = 0.031; TE: 7.95 vs. 4.16 kPa; p = 0.020 and had significantly lower results than individuals with alcoholic liver cirrhosis (ARFI: 1.49 vs. 2.99 m/s; p = 0.002. APRI showed the best diagnostic performance for CFLD detection (AUROC 0.815; sensitivity 85.7%, specificity 70.7%. CONCLUSIONS: ARFI, TE, and laboratory based fibrosis indices correlate with each other and reliably detect CFLD related liver cirrhosis in adult CF patients. CF specific cut-off values for cirrhosis in adults are lower than in alcoholic cirrhosis.

  9. A case of cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Maria Alice Monti

    2009-09-01

    Full Text Available As the expected survival improves for patients with cystic fibrosis (CF, there is a growing population of adults with this disease. We describe a case of a 33-year-old woman with CF presenting with recurrent pancreatitis, malnutrition, borderline sweat test and respiratory diseases. The case report underlines the importance of diagnosis and management of CF in adults, and the important role played by the Family Physician in developing an adult care program.

  10. Piperacillin-Induced Immune Hemolytic Anemia in an Adult with Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    Mahesh Bandara

    2010-01-01

    Full Text Available We report a case of drug-induced immune hemolytic anemia (DIIHA in an adult female with cystic fibrosis (CF, complicating routine treatment of a pulmonary exacerbation with intravenous piperacillin-tazobactam. Workup revealed a positive direct antiglobulin test (DAT due to red blood cell (RBC-bound IgG and C3 and piperacillin antibodies detectable in the patient's serum. The potential influence of CF transmembrane conductance regulator mutations on the severity of DIIHA is discussed. This report illustrates the importance of early identification of DIIHA, a rare complication of a commonly utilized medication in CF.

  11. Effect of different breathing aids on ventilation distribution in adults with cystic fibrosis.

    Directory of Open Access Journals (Sweden)

    Markus Wettstein

    Full Text Available BACKGROUND AND OBJECTIVES: We investigated the effect of different breathing aids on ventilation distribution in healthy adults and subjects with cystic fibrosis (CF. METHODS: In 11 healthy adults and 9 adults with CF electrical impedance tomography measurements were performed during spontaneous breathing, continuous positive airway pressure (CPAP and positive expiratory pressure (PEP therapy randomly applied in upright and lateral position. Spatial and temporal ventilation distribution was assessed. RESULTS: The proportion of ventilation directed to the dependent lung significantly increased in lateral position compared to upright in healthy and CF. This effect was enhanced with CPAP but neutralised with PEP, whereas the effect of PEP was larger in the healthy group. Temporal ventilation distribution showed exactly the opposite with homogenisation during CPAP and increased inhomogeneity with PEP. CONCLUSIONS: PEP shows distinct differences to CPAP with respect to its impact on ventilation distribution in healthy adults and CF subjects EIT might be used to individualise respiratory physiotherapy.

  12. Cystic Fibrosis: Symptoms, Diagnosis, Treatment

    Science.gov (United States)

    ... please turn Javascript on. Feature: Steady Advances Against Cystic Fibrosis Symptoms, Diagnosis, Treatment Past Issues / Fall 2012 Table ... both of the baby's CFTR genes are normal. Cystic Fibrosis Carrier Testing People who have one normal and ...

  13. Intestinal disease in cystic fibrosis.

    OpenAIRE

    Baxter, P S; Dickson, J. A.; Variend, S; Taylor, C J

    1988-01-01

    Three children with cystic fibrosis developed steatorrhoea unresponsive to changes in pancreatic supplements. The final diagnoses were chronic giardiasis, stagnant loop syndrome, and Crohn's disease. Refractory intestinal symptoms in cystic fibrosis merit further investigation.

  14. Chest CT abnormalities and quality of life: relationship in adult cystic fibrosis

    Science.gov (United States)

    Kilcoyne, Aoife; Lavelle, Lisa P.; McCarthy, Colin J.; McEvoy, Sinead H.; Fleming, Hannah; Gallagher, Annika; Loeve, Martine; Tiddens, Harm; McKone, Edward; Gallagher, Charles C.

    2016-01-01

    Background To evaluate the relationship between lung parenchymal abnormalities on chest CT and health-related quality of life in adult cystic fibrosis (CF). Methods The chest CT scans of 101 consecutive CF adults (mean age 27.8±7.9, 64 males) were prospectively scored by two blinded radiologists in consensus using a modified Bhalla score. Health-related quality of life was assessed using the revised Quittner Cystic Fibrosis Questionnaire (CFQ-R). Multiple regressions were performed with each of the CFQ-R domains and all clinical and imaging findings to assess independent correlations. Results There were 18 inpatients and 83 outpatients. For the cohort of inpatients, CT abnormalities were significantly (P<0.005 for all) associated with Respiratory Symptoms (Air Trapping), and also with Social Functioning (Consolidation) and Role Functioning (Consolidation). For outpatients, CT abnormalities were significantly (P<0.005 for all) associated with Respiratory Symptoms (Consolidation) and also with Physical Functioning (Consolidation), Vitality (Consolidation, Severity of Bronchiectasis), Eating Problems (airway wall thickening), Treatment Burden (Total CT Score), Body Image (Severity of Bronchiectasis) and Role Functioning (Tree-in-bud nodules). Consolidation was the commonest independent CT predictor for both inpatients (predictor for 2 domains) and outpatients (predictor in 3 domains). Several chest CT abnormalities excluded traditional measures such as FEV1 and BMI from the majority of CFQ-R domains. Conclusions Chest CT abnormalities are significantly associated with quality of life measures in adult CF, independent of clinical or spirometric measurements. PMID:27047946

  15. Sinonasal Manifestations in Cystic Fibrosis

    OpenAIRE

    Oomen, Karin P. Q.; Max M. April

    2012-01-01

    Cystic fibrosis is a genetic disease, characterized by accumulation of thickened mucous secretions in exocrine glands. Although the major clinical manifestations of the disease are pancreatic and pulmonary disease, the majority of cystic fibrosis patients will develop sinonasal manifestations as well. This paper outlines the etiology, evaluation, and management of the nasal and sinus manifestations in patients with cystic fibrosis.

  16. Arthritis in cystic fibrosis.

    OpenAIRE

    Schidlow, D V; Goldsmith, D P; Palmer, J; Huang, N N

    1984-01-01

    We have confirmed previous observations of a transient, non-disabling recurrent arthritis in patients with cystic fibrosis. This arthritis differs from classic rheumatoid arthritis, is frequently associated with skin arthritis lesions, and its occurrence is unrelated to the severity of lung disease.

  17. Long-Term Effects of Exercise Training and Hyperalimentation in Adult Cystic Fibrosis Patients with Severe Pulmonary Dysfunction.

    Science.gov (United States)

    Heijerman, Harry G. M.; And Others

    1992-01-01

    This study, with 10 adult patients with cystic fibrosis, found that the improvement in lung function and ergometry parameters obtained by a short in-patient training program could be maintained on an out-patient basis through a voluntary self-treatment program. (DB)

  18. Spirometry-related pain and distress in adolescents and young adults with cystic fibrosis: The role of acceptance

    OpenAIRE

    Casier, Annabelle; Goubert, Liesbet; Vervoort, Tine; Theunis, Marleen; Huse, Danielle; De Baets, Frans; Matthys, Dirk; Crombez, Geert

    2013-01-01

    OBJECTIVE: To investigate the occurrence of spirometry-related pain and distress in adolescents and young adults with cystic fibrosis (CF), and to investigate the role of acceptance of illness in spirometry-related pain and distress.METHODS: A total of 36 adolescents and young adults with CF (12 to 22 years of age) completed a questionnaire assessing acceptance of illness. Spirometry-related distress was assessed using self-report (ie, anxiety/worry about the procedure) and physiological outc...

  19. Eosinophilic activation in cystic fibrosis.

    OpenAIRE

    Koller, D. Y.; Götz, M.; Eichler, I; Urbanek, R

    1994-01-01

    BACKGROUND--The neutrophil is a potent contributor to pulmonary destruction in cystic fibrosis. Since eosinophils also possess destructive potential the involvement of eosinophils in cystic fibrosis has been investigated. METHODS--Eosinophil numbers and levels of eosinophil cationic protein (ECP), a marker of eosinophil activation, were determined in the serum of 42 patients with cystic fibrosis and in the sputum of 10 of them. To determine neutrophil activation levels of myeloperoxidase (MPO...

  20. Barriers to adherence in adolescents and young adults with cystic fibrosis

    DEFF Research Database (Denmark)

    Bregnballe, Vibeke; Schiøtz, Peter Oluf; Boisen, Kirsten A;

    2011-01-01

    Treatment adherence is crucial in patients with cystic fibrosis, but poor adherence is a problem, especially during adolescence. Identification of barriers to treatment adherence and a better understanding of how context shapes barriers is of great importance in the disease. Adolescent reports of...... barriers to adherence have been studied, but studies of their parents' experience of such barriers have not yet been carried out. The aim of the present study was to explore barriers to treatment adherence identified by young patients with cystic fibrosis and by their parents....

  1. Cystic Fibrosis: Diet and Nutrition

    Science.gov (United States)

    ... a Friend Who Cuts? Cystic Fibrosis: Diet and Nutrition KidsHealth > For Teens > Cystic Fibrosis: Diet and Nutrition Print A A A Text Size What's in ... or the flu. With the right balance of nutrition, extra fat and calories , and prescribed supplements, though, ...

  2. Imaging from cystic fibrosis

    International Nuclear Information System (INIS)

    Cystic fibrosis (CF) is the most frequent metabolic disorder with autosomal recessive inheritance in the Caucasian population. The gene defect is located on the long arm of chromosome 7. In Germany today, the actual median survival is 37 years. The genetic defect caused by chloride anion disturbances affects multiple body systems but the morbidity and mortality is due to lung disease. The secretion of highly viscous mucus promotes viral and bacterial pulmonary infections leading to airway obstruction and consecutive destruction of the lung parenchyma. This article will review and discuss both the clinical aspects of the disease and the diagnostic methods, referring in particular to new imaging strategies. (orig.)

  3. Epidemic of Pseudomonas cepacia in an adult cystic fibrosis unit: evidence of person-to-person transmission.

    OpenAIRE

    Smith, D. L.; Gumery, L B; Smith, E. G.; Stableforth, D. E.; Kaufmann, M. E.; Pitt, T L

    1993-01-01

    An epidemic of Pseudomonas cepacia occurred in an adult cystic fibrosis center in the United Kingdom, despite a policy of segregation of infected and noninfected patients within the hospital. Investigation of the outbreak by ribotyping and pulsed-field gel electrophoresis to characterize P. cepacia strain genomes together with inquiry into social contacts between patients revealed evidence of person-to-person transmission outside the hospital environment. Segregation policies aimed at reducin...

  4. Antibiotic allergy in cystic fibrosis

    OpenAIRE

    Parmar, J.; Nasser, S.

    2005-01-01

    Allergic reactions to antibiotics are more common in cystic fibrosis (CF) than in the general population. This in part is due to the improving survival in adults with CF and the increased use of high dose intravenous antibiotics. While some are immediate anaphylaxis type (IgE mediated) reactions, the majority are late onset and may have non-specific features such as rash and fever. Piperacillin has consistently been found to have the highest rate of reported reactions (30–50%). There is a low...

  5. High prevalence of azole-resistant Aspergillus fumigatus in adults with cystic fibrosis exposed to itraconazole.

    Science.gov (United States)

    Burgel, Pierre-Régis; Baixench, Marie-Thérèse; Amsellem, Michaël; Audureau, Etienne; Chapron, Jeanne; Kanaan, Reem; Honoré, Isabelle; Dupouy-Camet, Jean; Dusser, Daniel; Klaassen, Corné H; Meis, Jacques F; Hubert, Dominique; Paugam, André

    2012-02-01

    Aspergillus fumigatus is the most frequent fungus found in the sputum of cystic fibrosis (CF) subjects. Itraconazole is prescribed for allergic bronchopulmonary aspergillosis (ABPA) or Aspergillus bronchitis in CF subjects. We hypothesized that A. fumigatus isolates in the sputum of CF subjects with previous exposure to itraconazole was associated with higher prevalence of azole resistance. From June 2010 to April 2011, sputum samples from adult CF subjects at Cochin University Hospital (France) were examined systematically for the detection of A. fumigatus. MICs of A. fumigatus isolates against azoles were screened using Etest, and reduced susceptibility to azoles was confirmed using the CLSI broth microdilution method. A. fumigatus was isolated from the sputum of 131/249 (52.6%) adult CF subjects, and 47/131 (35.9%) subjects had received previous treatment with itraconazole. Reduced A. fumigatus susceptibility to itraconazole (MIC, ≥2 mg/liter) was confirmed in 6/131 (4.6%) subjects. All 6 isolates also had reduced susceptibility to posaconazole (MIC, ≥0.5 mg/liter), and 3/6 isolates had reduced susceptibility to voriconazole (MIC, ≥2 mg/liter). Mutations in the cyp51A gene were detected at positions previously implicated to cause resistance in 5 isolates. Azole-resistant A. fumigatus isolates were found in 5/25 (20%) subjects exposed to itraconazole within the previous 3 years. High rates of azole-resistant A. fumigatus isolates were present in adult CF subjects and were associated with recent itraconazole exposure. Although the clinical implications of these findings will require further studies, the cautious use of itraconazole in adult CF subjects can be recommended. PMID:22123701

  6. Cystic fibrosis from the gastroenterologist's perspective.

    Science.gov (United States)

    Ooi, Chee Y; Durie, Peter R

    2016-03-01

    Cystic fibrosis is a life-limiting, recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Increased survival outcomes and the multisystem nature of the disease, including the involvement of hepatobiliary and gastrointestinal tracts, now require the need for more extensive knowledge and expertise in cystic fibrosis among gastroenterologists. Manifestations are either a direct consequence of the primary defect in cystic fibrosis or a secondary complication of the disease or therapy. Adult patients with cystic fibrosis also have an increased risk of malignancy in the gastrointestinal and pancreatico-biliary tracts compared with the general population. Novel treatments that target the basic defects in the CFTR protein have emerged, but to date not much is known about their effects on the gastrointestinal and hepatobiliary systems. The introduction of such therapies has provided new opportunities for the application of intestinal endpoints in clinical trials and the understanding of underlying disease mechanisms that affect the gut in cystic fibrosis. PMID:26790364

  7. Time course and recovery of arterial blood gases during exacerbations in adults with Cystic Fibrosis.

    LENUS (Irish Health Repository)

    Waterhouse, D F

    2012-02-01

    INTRODUCTION: Hypoxia and hypercapnia are closely linked to morbidity and mortality in patients with Cystic Fibrosis (CF). The aims of this study were to describe the changes in blood gases during and following an acute pulmonary exacerbation in adults with CF. METHODS: We performed a prospective observational study of patients with CF admitted for management of an acute exacerbation. Blood gas and spirometric analysis was performed on admission, throughout the treatment period, and 31 days after discharge (day 45). RESULTS: At presentation, eight of nineteen patients had evidence of either hypoxia (PaO(2)<8 kPa) and\\/or hypercapnia (PaCO(2)>6.6 kPa). Blood gas parameters stabilized following two weeks of intravenous antibiotic therapy, with little difference evident in between treatment completion and subsequent review following discharge. Hypercapnia reversed in three patients, with persistent hypercapnia evident in two patients. CONCLUSION: In our study group, hypoxemia and hypercapnia were frequently observed at presentation of the acute exacerbation. Blood gases stabilized following two weeks of intravenous antibiotic therapy, with arterial PCO(2) one month following hospital discharge generally similar to that at time of discharge.

  8. Antibiotic susceptibility and molecular mechanisms of macrolide resistance in streptococci isolated from adult cystic fibrosis patients.

    Science.gov (United States)

    Thornton, Christina S; Grinwis, Margot E; Sibley, Christopher D; Parkins, Michael D; Rabin, Harvey R; Surette, Michael G

    2015-11-01

    The cystic fibrosis (CF) airways are colonized by polymicrobial communities with high bacterial load and are influenced by frequent antibiotic exposures. This community includes diverse streptococci, some of which have been directly or indirectly associated with pulmonary exacerbations. As many streptococci are naturally competent, horizontal transfer of antibiotic-resistant determinants coupled with frequent and/or chronic antibiotic exposure may contribute to high resistance rates. In this study, we assessed antibiotic resistance in 413 streptococcal isolates from adult CF patients against nine antibiotics relevant in CF treatment. We observed very low rates of cephalosporin resistance [cefepime and ceftriaxone ( genes. The majority of isolates were, however, found to have point mutations at position 2058 or 2059 of the 23S ribosomal subunit - a molecular mechanism of resistance not commonly reported in the non-pyogenic and non-pneumococcal streptococci, and unique in comparison with previous studies. The high rates of resistance observed here may result in poor outcomes where specific streptococci are contributing to CF airway disease and serve as a reservoir of resistance genes within the CF airway microbiome. PMID:26408040

  9. Cystic Fibrosis: Prenatal Screening and Diagnosis

    Science.gov (United States)

    ... Management Education & Events Advocacy For Patients About ACOG Cystic Fibrosis: Prenatal Screening and Diagnosis Home For Patients Search ... Screening and Diagnosis FAQ171, February 2016 PDF Format Cystic Fibrosis: Prenatal Screening and Diagnosis Pregnancy What is cystic ...

  10. Cardiorespiratory and sensory responses to exercise in adults with mild cystic fibrosis.

    Science.gov (United States)

    Quon, Bradley S; Wilkie, Sabrina S; Molgat-Seon, Yannick; Schaeffer, Michele R; Ramsook, Andrew H; Wilcox, Pearce G; Guenette, Jordan A

    2015-12-01

    The purpose of this study was to evaluate cardiorespiratory fitness and reasons for exercise curtailment in a contemporary adult cystic fibrosis (CF) cohort with mild lung disease. Adults with mild CF (n = 19, forced expiratory volume in 1 s = 95 ± 17% predicted) were age-, sex-, ethnicity-, and body mass index-matched to healthy controls (n = 19) and underwent a detailed cardiopulmonary cycle exercise test. While CF subjects had a reduced peak oxygen uptake compared with controls, the values were normal when expressed as %predicted in 14/19 (74%) of subjects. Both groups demonstrated a normal cardiovascular limitation to exercise and stopped exercise primarily because of leg fatigue. Despite not being exercise-limited by respiratory factors, there was some evidence of ventilatory abnormalities as patients with mild CF had increased end-inspiratory lung volumes and reached an inflection/plateau in tidal volume relative to minute ventilation at lower exercise intensities compared with controls. Subjects with CF were not more likely to demonstrate expiratory flow limitation compared with controls and did not have evidence of dynamic hyperinflation during exercise. Despite increased end-inspiratory lung volumes and an earlier tidal volume inflection/plateau, CF subjects did not experience higher levels of dyspnea. In an exploratory analysis, a significant inverse correlation was observed between sweat chloride and peak work rate. Adult CF subjects with relatively well preserved spirometry have normal exercise performance relative to reference values and are primarily limited by nonrespiratory factors. However, ventilatory abnormalities were detected even in this mild CF cohort and should be evaluated in future therapeutic trials focused on disease-modifying therapies in mild CF. PMID:26429870

  11. Cystic fibrosis adults' perception and management of the risk of infection with Burkholderia cepacia complex

    OpenAIRE

    Lowton, Karen; Gabe, Jonathan

    2006-01-01

    The risk of infection for cystic fibrosis patients from Burkholderia cepacia complex pathogens is of increasing concern to doctors and scientists. This paper reports on how these patients perceive and manage the risk of cepacia infection using Douglas and Calvez's (1990) typology of four cultures of the community (the central community, dissenting enclaves, isolates, and individualists) and Douglas' works on pollution, risk, and culture. We attempt to develop Douglas's cultural theory in the ...

  12. [Rhinosinusitis in cystic fibrosis].

    Science.gov (United States)

    Mainz, J G; Gerber, A; Arnold, C; Baumann, J; Baumann, I; Koitschev, A

    2015-11-01

    In cystic fibrosis (CF) mucociliary clearance of the entire respiratory system is impaired. This allows pathogens, such as Pseudomonas aeruginosa to persist and proliferate, which by progressive pulmonary destruction causes 90 % of premature deaths due to this inherited disease. The dramatic improvement in life expectation of patients due to intensive therapy has resulted in the inevitable but variably expressed sinonasal involvement coming into the clinical and scientific focus. Thereby, almost all CF patients reveal sinonasal pathology and many suffer from chronic rhinosinusitis. Recently, the sinonasal niche has been recognized as a site of initial and persistent colonization by pathogens. This article presents the pathophysiological background of this multiorgan disease as well as general diagnostic and therapeutic standards. The focus of this article is on sinonasal involvement and conservative and surgical options for treatment. Prevention of pathogen acquisition is an essential issue in the otorhinolaryngological treatment of CF patients. PMID:26495450

  13. Neutrophils in cystic fibrosis.

    Science.gov (United States)

    Laval, Julie; Ralhan, Anjali; Hartl, Dominik

    2016-06-01

    Cystic fibrosis (CF) lung disease is characterized by chronic infection and inflammation. Among inflammatory cells, neutrophils represent the major cell population accumulating in the airways of CF patients. While neutrophils provide the first defensive cellular shield against bacterial and fungal pathogens, in chronic disease conditions such as CF these short-lived immune cells release their toxic granule contents that cause tissue remodeling and irreversible structural damage to the host. A variety of human and murine studies have analyzed neutrophils and their products in the context of CF, yet their precise functional role and therapeutic potential remain controversial and incompletely understood. Here, we summarize the current evidence in this field to shed light on the complex and multi-faceted role of neutrophils in CF lung disease. PMID:26854289

  14. Profile of cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Mona M. El-Falaki

    2014-09-01

    Full Text Available It was generally believed that Cystic fibrosis (CF is rare among Arabs; however, the few studies available from Egypt and other Arabic countries suggested the presence of many undiagnosed patients. The aim of the present study was to determine the frequency of CF patients out of the referred cases in a single referral hospital in Egypt. A total of 100 patients clinically suspected of having CF were recruited from the CF clinic of the Allergy and Pulmonology Unit, Children’s Hospital, Cairo University, Egypt, throughout a 2 year period. Sweat chloride testing was done for all patients using the Wescor macroduct system for collection of sweat. Quantitative analysis for chloride was then done by the thiocyanate colorimetric method. Patients positive for sweat chloride (⩾60 mmol/L were tested for the ΔF508 mutation using primer specific PCR for cystic fibrosis transmembrane conductance regulator (CFTR gene. Thirty-six patients (36% had a positive sweat chloride test. The main clinical presentations in patients were chronic cough in 32 (88.9%, failure to thrive in 27 (75%, steatorrhea in 24 (66.7%, and hepatobiliary involvement in 5 (13.9%. Positive consanguinity was reported in 50% of CF patients. Thirty-two patients were screened for ΔF508 mutation. Positive ΔF508 mutation was detected in 22 (68.8% patients, 8 (25% were homozygous, 14 (43.8% were heterozygous, and 10 (31.3% tested were negative. CF was diagnosed in more than third of patients suspected of having the disease on clinical grounds. This high frequency of CF among referred patients indicates that a high index of suspicion and an increasing availability of diagnostic tests lead to the identification of a higher number of affected individuals.

  15. Steady Advances Against Cystic Fibrosis

    Science.gov (United States)

    ... age 2, he grew up playing everything from football and lacrosse to ice hockey and golf. And ... Who's at Risk? Cystic fibrosis affects males and females from all racial and ethnic groups. It is ...

  16. Cystic fibrosis in premature infants

    OpenAIRE

    Lu, KD; Engmann, C.; Moya, F. (Francina); Muhlebach, M

    2011-01-01

    There are few reports of cystic fibrosis (CF) diagnosed in premature infants. We describe the clinical course of three patients, from our neonatal intensive care units, who were diagnosed with CF, and discuss the existing literature and treatment considerations.

  17. Alveolar inflammation in cystic fibrosis

    DEFF Research Database (Denmark)

    Ulrich, Martina; Worlitzsch, Dieter; Viglio, Simona;

    2010-01-01

    BACKGROUND: In infected lungs of the cystic fibrosis (CF) patients, opportunistic pathogens and mutated cystic fibrosis transmembrane conductance regulator protein (CFTR) contribute to chronic airway inflammation that is characterized by neutrophil/macrophage infiltration, cytokine release and...... accumulated in type II alveolar epithelial cells, lacking CFTR. P. aeruginosa organisms were rarely present in inflamed alveoli. CONCLUSIONS: Chronic inflammation and remodeling is present in alveolar tissues of the CF lung and needs to be addressed by anti-inflammatory therapies....

  18. Nutritional management of cystic fibrosis.

    OpenAIRE

    A MacDonald

    1996-01-01

    Nutritional support is an integral part of the management of cystic fibrosis patients. It is arguably best provided by a qualified dietitian and nutritional care sister working in conjunction with the rest of the cystic fibrosis team. The patient's nutritional needs should be assessed, regularly reviewed, and nutritional treatment tailored to meet the changing clinical and psychosocial needs of the patient. Nutritional intervention is not without complications, and in particular attention to ...

  19. Accurate reporting of adherence to inhaled therapies in adults with cystic fibrosis: methods to calculate normative adherence

    Directory of Open Access Journals (Sweden)

    Hoo ZH

    2016-05-01

    Full Text Available Zhe Hui Hoo,1,2 Rachael Curley,1,2 Michael J Campbell,1 Stephen J Walters,1 Daniel Hind,3 Martin J Wildman1,2 1School of Health and Related Research (ScHARR, University of Sheffield, 2Sheffield Adult Cystic Fibrosis Centre, Northern General Hospital, 3Sheffield Clinical Trials Research Unit, University of Sheffield, Sheffield, UK Background: Preventative inhaled treatments in cystic fibrosis will only be effective in maintaining lung health if used appropriately. An accurate adherence index should therefore reflect treatment effectiveness, but the standard method of reporting adherence, that is, as a percentage of the agreed regimen between clinicians and people with cystic fibrosis, does not account for the appropriateness of the treatment regimen. We describe two different indices of inhaled therapy adherence for adults with cystic fibrosis which take into account effectiveness, that is, “simple” and “sophisticated” normative adherence. Methods to calculate normative adherence: Denominator adjustment involves fixing a minimum appropriate value based on the recommended therapy given a person’s characteristics. For simple normative adherence, the denominator is determined by the person’s Pseudomonas status. For sophisticated normative adherence, the denominator is determined by the person’s Pseudomonas status and history of pulmonary exacerbations over the previous year. Numerator adjustment involves capping the daily maximum inhaled therapy use at 100% so that medication overuse does not artificially inflate the adherence level. Three illustrative cases: Case A is an example of inhaled therapy under prescription based on Pseudomonas status resulting in lower simple normative adherence compared to unadjusted adherence. Case B is an example of inhaled therapy under-prescription based on previous exacerbation history resulting in lower sophisticated normative adherence compared to unadjusted adherence and simple normative adherence

  20. Evaluating Adult Cystic Fibrosis Care in BC: Disparities in Access to a Multidisciplinary Treatment Centre

    Directory of Open Access Journals (Sweden)

    James M. Roberts

    2016-01-01

    Full Text Available Background. Cystic fibrosis (CF care that is delivered through dedicated, multidisciplinary CF clinics is believed to be partly responsible for improvements in the length and quality of life of persons with CF. We hypothesized patients living farthest from a CF clinic would be seen less frequently than recommended, which would result in reduced access to guideline-recommended care and poorer health outcomes. Methods. We performed a retrospective chart review of 168 patients who accessed CF care primarily through the St. Paul’s Hospital Adult CF Clinic. Subjects were stratified into four geographical groups according to the estimated one-way travel time by automobile from their home address to the clinic (360 mins. Results. There were no significant differences in pulmonary function, nutritional status, CF-related complications, or access to guideline-recommended CF pulmonary therapies between the four groups. Compared to the reference (150 mins were less likely to be seen in the clinic quarterly as recommended by current CF care guidelines (p=0.002. Those in the farthest group (>360 mins were at risk for more rapid decline in lung function compared to the reference group (FEV1% predicted annual change: −3.1%/year [95% CI −5.1 to −1.1] versus −0.9%/year [95% CI −1.6 to 0.1], resp., p=0.04. Conclusions. Access to CF care is a challenge for individuals who live outside Metro Vancouver and has health policy implications. Further initiatives should be undertaken to ensure equitable care for people living with CF.

  1. Evaluating Adult Cystic Fibrosis Care in BC: Disparities in Access to a Multidisciplinary Treatment Centre.

    Science.gov (United States)

    Roberts, James M; Wilcox, Pearce G; Quon, Bradley S

    2016-01-01

    Background. Cystic fibrosis (CF) care that is delivered through dedicated, multidisciplinary CF clinics is believed to be partly responsible for improvements in the length and quality of life of persons with CF. We hypothesized patients living farthest from a CF clinic would be seen less frequently than recommended, which would result in reduced access to guideline-recommended care and poorer health outcomes. Methods. We performed a retrospective chart review of 168 patients who accessed CF care primarily through the St. Paul's Hospital Adult CF Clinic. Subjects were stratified into four geographical groups according to the estimated one-way travel time by automobile from their home address to the clinic (360 mins). Results. There were no significant differences in pulmonary function, nutritional status, CF-related complications, or access to guideline-recommended CF pulmonary therapies between the four groups. Compared to the reference (150 mins) were less likely to be seen in the clinic quarterly as recommended by current CF care guidelines (p = 0.002). Those in the farthest group (>360 mins) were at risk for more rapid decline in lung function compared to the reference group (FEV1% predicted annual change: -3.1%/year [95% CI -5.1 to -1.1] versus -0.9%/year [95% CI -1.6 to 0.1], resp., p = 0.04). Conclusions. Access to CF care is a challenge for individuals who live outside Metro Vancouver and has health policy implications. Further initiatives should be undertaken to ensure equitable care for people living with CF. PMID:27445568

  2. Adult Non-Cystic Fibrosis Bronchiectasis Is Characterised by Airway Luminal Th17 Pathway Activation

    Science.gov (United States)

    Chen, Alice C.-H.; Martin, Megan L.; Lourie, Rohan; Rogers, Geraint B.; Burr, Lucy D.; Hasnain, Sumaira Z.; Bowler, Simon D.; McGuckin, Michael A.; Serisier, David J.

    2015-01-01

    Background Non-cystic fibrosis (CF) bronchiectasis is characterised by chronic airway infection and neutrophilic inflammation, which we hypothesised would be associated with Th17 pathway activation. Methods Th17 pathway cytokines were quantified in bronchoalveolar lavage fluid (BALF), and gene expression of IL-17A, IL-1β, IL-8 and IL-23 determined from endobronchial biopsies (EBx) in 41 stable bronchiectasis subjects and 20 healthy controls. Relationships between IL-17A levels and infection status, important clinical measures and subsequent Pseudomonas aeruginosa infection were determined. Results BALF levels of all Th17 cytokines (median (IQR) pg/mL) were significantly higher in bronchiectasis than control subjects, including IL-17A (1.73 (1.19, 3.23) vs. 0.27 (0.24, 0.35), 95% CI 1.05 to 2.21, p, 15.75) vs. 0.70 (0.43, 1.79), 95% CI 4.68 to 11.21, p, 8.05) vs 1 (0.13, 2.95), 95% CI 0.05 to 4.07, p = 0.04) and IL-8 (3.75 (1.64, 11.27) vs 1 (0.54, 3.89), 95% CI 0.32 to 4.87, p = 0.02) and BALF IL-8 and IL-1α levels showed significant relationships with clinical measures and airway microbiology. P. aeruginosa infection was associated with increased levels of IL-8 while Haemophilus influenzae was associated with increased IL-1α. Conclusions and Clinical Relevance Established adult non-CF bronchiectasis is characterised by luminal Th17 pathway activation, however this pathway may be relatively less important than activation of non-antigen-specific innate neutrophilic immunity. PMID:25822228

  3. What Are the Signs and Symptoms of Cystic Fibrosis?

    Science.gov (United States)

    ... Twitter. What Are the Signs and Symptoms of Cystic Fibrosis? The signs and symptoms of cystic fibrosis (CF) ... respiratory, digestive, or reproductive systems of the body. Cystic Fibrosis Figure A shows the organs that cystic fibrosis ...

  4. Respiratory bacterial infections in cystic fibrosis

    DEFF Research Database (Denmark)

    Ciofu, Oana; Hansen, Christine R; Høiby, Niels

    2013-01-01

    PURPOSE OF REVIEW: Bacterial respiratory infections are the main cause of morbidity and mortality in patients with cystic fibrosis (CF). Pseudomonas aeruginosa remains the main pathogen in adults, but other Gram-negative bacteria such as Achromobacter xylosoxidans and Stenotrophomonas maltophilia...

  5. Surgical management of pneumothorax in cystic fibrosis.

    OpenAIRE

    Seddon, D. J.; Hodson, M E

    1988-01-01

    Twenty seven adults with cystic fibrosis who had had either a surgical pleurodesis or pleurectomy for the management of pneumothorax were studied. There were no significant differences in postoperative respiratory function, incidence of recurrent pneumothorax, or incidence of major postoperative complications between the two groups.

  6. Intestinal organoids as model for cystic fibrosis

    NARCIS (Netherlands)

    Dekkers, J.F.

    2015-01-01

    Recent advances in adult stem cell culture technology have enabled long-term in vitro expansion of intestinal organoids or ‘mini-guts’. In this thesis, we used the organoid model to develop a novel assay to measure function of CFTR, the protein mutated in subjects with cystic fibrosis (CF). This met

  7. Symptoms of depression impact the course of lung function in adolescents and adults with cystic fibrosis

    OpenAIRE

    Fidika, Astrid; Herle, Marion; Goldbeck, Lutz

    2014-01-01

    Background Epidemiological studies report high rates of depression among patients with cystic fibrosis (CF). Assuming a causal relationship between depression and the progression of CF, our hypothesis is that elevated symptoms of depression would be a predictor of worse lung function after two years. Methods In the context of the TIDES study, 473 German patients with CF (age 12–53 years, FEV1% predicted M = 66.2, range 13–137) completed the Hospital Anxiety and Depression Scale (HADS). Lung f...

  8. Tracheomalacia in adults with cystic fibrosis: determination of prevalence and severity with dynamic cine CT.

    LENUS (Irish Health Repository)

    McDermott, Shaunagh

    2012-02-01

    PURPOSE: To determine the prevalence and severity of tracheomalacia in adults with cystic fibrosis (CF) by using dynamic cine multidetector computed tomography (CT) and to correlate these findings with pulmonary function test (PFT) results and the severity of parenchymal lung disease. MATERIALS AND METHODS: In this institutional review board-approved HIPAA-compliant study, 40 patients with CF (22 men, 18 women; mean age, 28 years +\\/- 8 [standard deviation]; age range, 18-54 years) prospectively underwent PFTs, standard thin-section CT, and two dynamic cine multidetector CT acquisitions. Ten control subjects underwent dynamic cine multidetector CT. After standard thin-section CT was completed, dynamic cine multidetector CT was performed during a forced expiratory maneuver and during coughing. Dynamic cine multidetector CT images in nine patients were excluded. Maximal inspiratory, dynamic expiratory, and end-expiratory tracheal luminal areas were compared (Student t test) and correlated (Spearman rank) with PFT results and severity of parenchymal lung disease. RESULTS: Mean predicted forced expiratory volume in 1 second (FEV(1)) was 70.6% +\\/- 20.7, and mean Bhalla CT score was 41.8% +\\/- 13.6. In patients with CF, dynamic cine mean tracheal cross-sectional area reduction was 51.7% +\\/- 18.4 (range, 9%-89%) for forced expiratory maneuvers and 68.8% +\\/- 11.7 (range, 18%-88%) for coughing (P = .001). Tracheomalacia was demonstrated in 24 (69%) patients and no control subjects during forced expiratory maneuvers (P = .001) and in 10 (29%) patients and one (10%) control subject during coughing. For end-expiration images, mean tracheal luminal reduction was 16.1% +\\/- 14.0% (range, 0.0%-53.0%), with one patient demonstrating tracheal luminal reduction of more than 50%. There was no correlation between tracheal cross-sectional luminal reduction and either predicted FEV(1) or CT Bhalla score. CONCLUSION: Tracheomalacia depicted at dynamic cine multidetector CT is a

  9. Mucolytics in cystic fibrosis.

    Science.gov (United States)

    Henke, Markus O; Ratjen, Felix

    2007-03-01

    Mucus accumulation in the lower airways is a key feature of cystic fibrosis (CF) lung disease. The major component of mucus in CF is not mucin derived from mucus producing cells but rather pus that includes viscous material such as polymerized DNA derived from degraded neutrophils. This has important implications for mucolytic therapy aiming to improve mucus clearance from the airways, since degradation of mucin may not be a suitable treatment strategy. In addition, thinning of secretions may not always be beneficial, since it may negatively affect certain aspects of mucus transport such as cough clearance. While inhaled N-acetylcysteine has been used as a mucolytic drug in CF for decades, there is little evidence that it has any beneficial effect. Dornase alfa has been shown to reduce pulmonary exacerbations and improve lung function and is currently the only mucolytic agent with proven efficacy in CF. Newer agents targeting other components of CF mucus, such as filamentous actin, are currently in development. Ultimately, drugs that are mucokinetic, which preserve viscoelasticity, rather than mucolytic may prove to be beneficial for CF lung disease in the future. PMID:17419975

  10. 78 FR 26681 - Medical Criteria for Evaluating Cystic Fibrosis

    Science.gov (United States)

    2013-05-07

    ... ADMINISTRATION RIN 0960-AF58 Medical Criteria for Evaluating Cystic Fibrosis AGENCY: Social Security... we published in the Federal Register on February 4, 2013 (78 FR 7968). We use Listings 3.04 and 103.04 to evaluate claims involving cystic fibrosis in adults and children under titles II and XVI of...

  11. Computed tomography of cystic pancreatic fibrosis

    International Nuclear Information System (INIS)

    The computer tomographic appearances of atrophic and lipomatous degeneration of the pancreas in cystic pancreatic fibrosis are described. CT exploration of the pancreas in recommended, particularly in differential diagnostic aspects of cystic fibrosis. (orig.)

  12. Cystic Fibrosis (CF) Respiratory Screen: Sputum

    Science.gov (United States)

    ... Tropical Delight: Melon Smoothie Pregnant? Your Baby's Growth Cystic Fibrosis (CF) Respiratory Screen: Sputum KidsHealth > For Parents > Cystic Fibrosis (CF) Respiratory Screen: Sputum Print A A A ...

  13. Serum pancreatic lipase activity in cystic fibrosis.

    OpenAIRE

    Junglee, D; Penketh, A; Katrak, A; Hodson, M.E.; Batten, J C; Dandona, P

    1983-01-01

    Patients with cystic fibrosis have been found to have abnormal serum concentrations of immunoreactive trypsin and abnormal activities of pancreatic isoamylase. A study was undertaken to discover whether activity of pancreatic lipase is also altered in cystic fibrosis. Serum from 23 patients with cystic fibrosis was assayed for immunoreactive trypsin and pancreatic lipase. Median serum pancreatic lipase activity was significantly lower in patients with cystic fibrosis than in controls, as was ...

  14. Diagnostic Testing in Cystic Fibrosis.

    Science.gov (United States)

    Brewington, John; Clancy, J P

    2016-03-01

    Cystic Fibrosis (CF) is a rare, multisystem disease leading to significant morbidity and mortality. CF is caused by defects in the cystic fibrosis transmembrane conductance regulator protein (CFTR), a chloride and bicarbonate transporter. Early diagnosis and access to therapies provides benefits in nutrition, pulmonary health, and cognitive ability. Several screening and diagnostic tests are available to support a diagnosis. We discuss the characteristics of screening and diagnostic tests for CF and guideline-based algorithms using these tools to establish a diagnosis. We discuss classification and management of common "diagnostic dilemmas," including the CFTR-related metabolic syndrome and other CFTR-associated diseases. PMID:26857766

  15. Self-esteem and its relationship to mental health and quality of life in adults with cystic fibrosis.

    Science.gov (United States)

    Platten, Melanie Jane; Newman, Emily; Quayle, Ethel

    2013-09-01

    Research from the general population indicates an important role for self-esteem in mental health, but limited research in this area exists in the cystic fibrosis (CF) literature. This study aimed to explore the predictive value of self-esteem and health-related quality of life (HRQoL) in mental health symptoms in adults with CF. Seventy-four participants, recruited online, completed the Clinical Outcomes in Routine Evaluation-Outcome Measure 34 (CORE-OM), Rosenberg Self-esteem Scale and Cystic Fibrosis Questionnaire-Revised (CFQ-R). Comparably high levels of self-esteem were found, but HRQoL was lower than previous research. Thirty percent of participants scored within the clinical range for mental health difficulty. Hierarchical regression, controlling for gender, explored the value of four CFQ-R subscales (physical, social, emotional and role functioning) and self-esteem in predicting CORE-OM total score. Gender accounted for 8.2% of the variance in mental health scores while the five independent variables accounted for a further 73.0% of variance. Of the five variables, CFQ-R emotional functioning and self-esteem were significant predictors of mental health symptoms. Results are discussed in relation to clinical implications and potential uses for internet technologies to promote socialisation. PMID:23264083

  16. Assessment of nutritional status in adult patients with cystic fibrosis: whole-body bioimpedance vs body mass index, skinfolds, and leg-to-leg bioimpedance

    NARCIS (Netherlands)

    Hollander, F.M.; Roos, de N.M.; Vries, de J.H.M.; Berkhout, van F.T.

    2005-01-01

    Objective: To investigate whether body mass index (BMI) or body fat percentage estimated from BMI, skinfolds, or leg-to-leg bioimpedance are good indicators of nutritional status in adult patients with cystic fibrosis. Body fat percentage measured by whole-body bioimpedance was used as the reference

  17. Lactate in cystic fibrosis sputum

    DEFF Research Database (Denmark)

    Bensel, Tobias; Stotz, Martin; Borneff-Lipp, Marianne;

    2011-01-01

    Antibiotic therapy is thought to improve lung function in patients with cystic fibrosis (CF) by decreasing neutrophil-derived inflammation. We investigated the origin and clinical significance of lactate in the chronically inflamed CF lung. Methods Lactate was measured in sputa of 18 exacerbated...

  18. Anxiety and depression in adults with cystic fibrosis: a comparison between patients and the general population in Sweden and three other European countries

    OpenAIRE

    Backström-Eriksson, Lena; Sorjonen, Kimmo; Bergsten-Brucefors, Agneta; Hjelte, Lena; Melin, Bo

    2015-01-01

    Background Cystic fibrosis (CF) is the most common autosomal recessive life-shortening disease among Caucasians. Studies exploring the prevalence of anxiety and depression in adult CF patients are few, show inconsistent findings and rarely include comparisons with general populations. Prevalence and degree of anxiety and depression were investigated in adult CF patients in Sweden, Belgium, Germany and the UK, and compared to corresponding general population data. Methods Adult non-transplante...

  19. Behavioral interventions and stress management training for hospitalized adolescents and young adults with cystic fibrosis.

    Science.gov (United States)

    Spirito, A; Russo, D C; Masek, B J

    1984-07-01

    Recent studies have demonstrated that the majority of cystic fibrosis (CF) patients are not at high risk for developing psychological problems. Clinical studies emphasizing the development of adaptive coping mechanisms in these patients have been suggested as a more appropriate line of research. The purpose of the present paper is to describe our experience in teaching various behavioral and stress management strategies to help CF patients. Behavioral counseling, relaxation training, and biofeedback have all been used with these patients to help them manage a number of problems more effectively. The predominant presenting problems have included elevated anxiety levels, sleeping difficulties, pain, and hyperventilation episodes. The typical treatment course with these patients is described and a case example is given to help elucidate the nature of behavioral interventions. Patient satisfaction ratings indicate that most patients view these techniques positively. Clinical observations suggest that the acquisition of behavioral coping skills may enhance the CF patient's perceived control of his/her situation, reduce the level of pain and anxiety, and enhance the quality of life. PMID:6378718

  20. Antibiotic allergy in cystic fibrosis.

    Science.gov (United States)

    Parmar, J S; Nasser, S

    2005-06-01

    Allergic reactions to antibiotics are more common in cystic fibrosis (CF) than in the general population. This in part is due to the improving survival in adults with CF and the increased use of high dose intravenous antibiotics. While some are immediate anaphylaxis type (IgE mediated) reactions, the majority are late onset and may have non-specific features such as rash and fever. Piperacillin has consistently been found to have the highest rate of reported reactions (30-50%). There is a low risk of cross reactions between penicillins and other non-beta-lactam classes of antibiotics in penicillin skin prick positive patients. Carbapenems should only be used with extreme caution in patients with positive skin prick tests to penicillin. However, aztreonam can be used safely in patients who are penicillin allergic with positive skin prick reactions. The aminoglycosides are a relatively uncommon cause of allergic reactions, but patients who react to one member of the family may cross react with other aminoglycosides. Desensitisation relies on the incremental introduction of small quantities of the allergen and has been used for penicillins, ceftazidime, tobramycin and ciprofloxacin and must be repeated before each course. Personalized cards should be regularly updated for patients who develop allergic reactions. Written instructions on the emergency treatment of allergic reactions should be provided to patients self-administering intravenous antibiotics at home. Further research is required to identify risk factors and predictors for antibiotic allergy. PMID:15923254

  1. Pharmacogenetics of cystic fibrosis treatment.

    Science.gov (United States)

    Carter, Suzanne C; McKone, Edward F

    2016-08-01

    Cystic fibrosis (CF) is genetic autosomal recessive disease caused by reduced or absent function of CFTR protein. Treatments for patients with CF have primarily focused on the downstream end-organ consequences of defective CFTR. Since the discovery of the CFTR gene that causes CF in 1989 there have been tremendous advances in our understanding of the genetics and pathophysiology of CF. This has recently led to the development of new CFTR mutation-specific targeted therapies for select patients with CF. This review will discuss the characteristics of the CFTR gene, the CFTR mutations that cause CF and the new mutation specific pharmacological treatments including gene therapy that are contributing to the dawning of a new era in cystic fibrosis care. PMID:27490265

  2. MRI in mucoviscidosis (cystic fibrosis)

    International Nuclear Information System (INIS)

    Cystic fibrosis (CF) is a multi-systemic disease with major impact on the lungs. Pulmonary manifestation is crucial for the prognosis and life expectancy of patients. Imaging modalities and lung function tests reflect the pulmonary status in these patients. The standard imaging modality for diagnosis and follow-up of pulmonary changes is chest x-ray. The gold standard for the detection of parenchymal lung changes remains high resolution computed tomography (HRCT), but this is not used routinely for CF-patients due to radiation exposure. Magnetic resonance imaging (MRI) used to be of no importance in monitoring cystic fibrosis lung disease, as shown in studies from the 1980s and early 1990s. The continuing improvement of MRI techniques, however, has allowed for an adequate application of this non-radiation method in diagnosing the major pulmonary findings in CF, in addition to the assessment of lung function. (orig.)

  3. [Cystic fibrosis and associated complications].

    Science.gov (United States)

    Schwarz, C; Staab, D

    2015-03-01

    Cystic fibrosis (CF) is an autosomal recessive inherited metabolic disease. The mutation is located on the long arm of chromosome 7. Due to a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, chloride ion transport is reduced across the cell membrane. As a result, the disease can be described as an exocrinopathy. In all organs with exocrine glands, disorders occur in association with the defective chloride transport. The main impact of this defect is manifested in the lungs. Therefore, the most common cause of death is pulmonary disease with respiratory insufficiency due to recurrent infections. Unfortunately, a cure for the disease is still not available. However, new therapies that may affect the CFTR mutation more specifically give new hope for better therapeutic options in the future. The long-term goal of therapy is to develop a causal therapy for all six different mutation classes and thus for about 2000 mutations. PMID:25693903

  4. Finger clubbing in cystic fibrosis.

    OpenAIRE

    Pitts-Tucker, T J; Miller, M G; Littlewood, J M

    1986-01-01

    Finger clubbing was measured in 73 of 105 patients with cystic fibrosis undergoing full assessment. The sign correlated well with the chest x ray score and indices of pulmonary function and infection but not with weight, height, age, liver function, or degree of fat malabsorption. The presence of clubbing suggests appreciable pulmonary involvement. Most probably its progression indicates a deterioration in pulmonary state. In both instances increased efforts should be made to treat the infect...

  5. Breakdown in Breathing: The Complexities of Cystic Fibrosis

    Science.gov (United States)

    ... Subscribe A Breakdown in Breathing The Complexities of Cystic Fibrosis Cystic fibrosis (CF) is an inherited illness that ravages the ... B. Guggino, a researcher with the Johns Hopkins Cystic Fibrosis Center. But in CF, “the mucus gets sticky, ...

  6. Cystic Fibrosis Research | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... turn Javascript on. Feature: Steady Advances Against Cystic Fibrosis Cystic Fibrosis Research Past Issues / Fall 2012 Table of Contents "Remarkable strides in cystic fibrosis research over the past two decades have culminated ...

  7. Factors influencing quality of life and disease severity in Hungarian children and young adults with cystic fibrosis

    OpenAIRE

    Bodnar, Reka; Kadar, Laszlo; Holics, Klara; Ujhelyi, Rita; Kovacs, Lajos; Bolbas, Katalin; Szekely, Gyongyi; Gyurkovits, Kalman; Solyom, Eniko; Meszaros, Agnes

    2014-01-01

    Background The aim of our study was to evaluate factors affecting cystic fibrosis (CF) patients’ health-related quality of life (HRQoL) and to assess the level of agreement on HRQol between children and their parents. Methods Fifty-nine patients (mean age: 14.03 ± 4.81 years) from 5 Hungarian CF centres completed the survey. HRQoL was measured using The Cystic Fibrosis Questionnaire-Revised (CFQ-R). Parents were asked to fill out a questionnaire about their smoking habits, educational level a...

  8. The Sociology and Entrenchment. A Cystic Fibrosis Test for Everyone?

    DEFF Research Database (Denmark)

    Koch, Lene; Stemerding, Dirk

    1994-01-01

    Socialmedicine, genetic screening, cystic fibrosis, ethics, political regulation, sociology of technology......Socialmedicine, genetic screening, cystic fibrosis, ethics, political regulation, sociology of technology...

  9. Impact of Long-Term Tiotropium Bromide Therapy on Annual Lung Function Decline in Adult Patients with Cystic Fibrosis.

    Directory of Open Access Journals (Sweden)

    Claudia Brandt

    Full Text Available Chronic lung disease is the leading cause of death in patients with Cystic Fibrosis (CF and is often treated with bronchodilators. It is not known whether long-term tiotropium bromide treatment may have a positive impact on lung function.This retrospective cohort study estimated annual lung function decline utilizing longitudinal data for forced expiratory volume in 1 s (FEV1.A total of 160 adult patients with CF were analyzed. The subjects treated for 24 months with tiotropium bromide had a significantly slower decline of mean annual change of FEV1 (treated: -0.3±4.0%; control: -2.3±5.0%; p = 0.0130. In patients with FEV1 ≥70% predicted, long-term tiotropium bromide treatment was associated with greater improvements in annual lung function decline (FEV1 ≥70% predicted: treated: +0.5±4.7%; control: -4.0±6.3%; p = 0.0132; FEV1 50-69% predicted: treated: -0.5±4.4%; control: -0.8±3.8%; p = 0.7142; FEV1 ≤49% predicted: treated: -0.6±3.4%; control: -2.4±4.8%; p = 0.0898.This study suggests that long-term tiotropium bromide treatment may be associated with reduced annual decline of FEV1 in patients with CF, particularly in adults with a mild degree of severity.

  10. The month of July: an early experience with pandemic influenza A (H1N1 in adults with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    McMahon Tracy L

    2010-02-01

    Full Text Available Abstract Background Pandemic Influenza A (H1N1 2009 is a novel viral infection that emerged in March 2009. This is the first report addressing the clinical course of patients with cystic fibrosis (CF and H1N1 infection. Methods All patients with an influenza-like illness (ILI attending our adult centre during July 2009 were identified. Baseline respiratory function, nutritional status, approach to management and short-term clinical course were recorded. Results Most patients experienced a mild course and were able to be managed with antiviral agents as an outpatient. Robust infection control policies were implemented to limit transmission of H1N1 infection within our CF centre. Patients with severe lung disease, poor baseline nutritional reserve and presenting with more than 48 hours of ILI experienced a more severe course. Prompt antiviral therapy within the first 48 hours of illness may have been important in improving outcomes. Conclusions This observational study demonstrates that most adults with CF with H1N1 infection had mild clinical courses and recovered rapidly.

  11. Cystic fibrosis Delta F508 heterozygotes, smoking, and reproduction

    DEFF Research Database (Denmark)

    Dahl, Morten; Tybjaerg-Hansen, A; Wittrup, H H;

    1998-01-01

    Cystic fibrosis is the most common fatal autosomal recessive disease affecting Caucasian populations. It remains a puzzle how this disease is maintained at such a remarkably high incidence, however, it could be due to a reproductive advantage in cystic fibrosis heterozygotes. We tested this...... hypothesis. An adult Danish general population sample of 9141 individuals was screened for cystic fibrosis DeltaF508 heterozygotes; 250 carriers of this mutation were identified (2.7%). In the total sample DeltaF508 heterozygotes did not have more children than noncarriers; however, smoking interacted with.......001). In conclusion, overall these results do not support a reproductive advantage for cystic fibrosis DeltaF508 heterozygotes. However, the data cannot totally exclude the possibility that nonsmoking DeltaF508 heterozygotes experience a reproductive advantage while smoking DeltaF508 heterozygotes...

  12. HOME CARE IN CYSTIC-FIBROSIS PATIENTS

    NARCIS (Netherlands)

    VANAALDEREN, WMC; MANNES, GPM; BOSMA, ES; ROORDA, RJ; HEYMANS, HSA

    1995-01-01

    Intravenous antibiotics and enteral tube feeding at home for the treatment of pulmonary exacerbations and underweight condition in cystic fibrosis (CF) patients have become tools that are used in many cystic fibrosis centres, The experience with home care programmes from different countries is quite

  13. Outcome in cystic fibrosis liver disease.

    LENUS (Irish Health Repository)

    Rowland, Marion

    2011-01-01

    Evidence suggests that cystic fibrosis liver disease (CFLD) does not affect mortality or morbidity in patients with cystic fibrosis (CF). The importance of gender and age in outcome in CF makes selection of an appropriate comparison group central to the interpretation of any differences in mortality and morbidity in patients with CFLD.

  14. Self-management education for cystic fibrosis.

    LENUS (Irish Health Repository)

    Savage, Eileen

    2011-01-01

    Self-management education may help patients with cystic fibrosis and their families to choose, monitor and adjust treatment requirements for their illness, and also to manage the effects of illness on their lives. Although self-management education interventions have been developed for cystic fibrosis, no previous systematic review of the evidence of effectiveness of these interventions has been conducted.

  15. Endocrine Disorders in Cystic Fibrosis.

    Science.gov (United States)

    Blackman, Scott M; Tangpricha, Vin

    2016-08-01

    Cystic fibrosis is frequently complicated by endocrine disorders. Diabetes can be expected to affect most with CF and pancreatic insufficiency and varies widely in age of onset, but early identification and treatment improve morbidity and mortality. Short stature can be exacerbated by relative delay of puberty and by use of inhaled corticosteroids. Bone disease in CF causes fragility fractures and should be assessed by monitoring bone mineral density and optimizing vitamin D status. Detecting and managing endocrine complications in CF can reduce morbidity and mortality in CF. These complications can be expected to become more common as the CF population ages. PMID:27469183

  16. Pulmonary complications of cystic fibrosis

    International Nuclear Information System (INIS)

    The life expectancy of patients with cystic fibrosis (CF) has steadily increased over recent decades with a corresponding increase in the frequency of complications of the disease. Radiologists are increasingly involved with managing and identifying the pulmonary complications of CF. This article reviews the common manifestations of CF lung disease as well as updating radiologists with a number of less well-known complications of the condition. Early and accurate detection of the pulmonary effects of CF are increasingly important to prevent irreversible lung damage and give patients the greatest possibility of benefiting from the new therapies becoming available, which correct the underlying defect causing CF

  17. Liver manifestations of cystic fibrosis

    International Nuclear Information System (INIS)

    Chronic liver disease is one of the major complications of cystic fibrosis (CF). Significant liver disease is seen in 13-25% of children with CF. Improved life expectancy and prolonged follow-up have favored better characterization of the hepatic manifestations of CF and allowed direct observation of an increasing number of liver-related events. Liver disease typically develops in the first decade of life, with the incidence dropping rapidly after the age of 10 years. The wide spectrum of liver disease ranging from asymptomatic gallbladder abnormalities to biliary cirrhosis will be reviewed in this article

  18. The Irish cystic fibrosis database.

    OpenAIRE

    Cashman, S M; Patino, A; Delgado, M G; Byrne, L; Denham, B; de Arce, M

    1995-01-01

    We have found records of 1014 Irish cystic fibrosis patients alive by December 1994, belonging to 883 families. Prevalence in the population is 1/3475 and incidence at birth 1/1461, with a gene frequency of 2.6%. Twenty percent of the patients are aged over 20 years, but at present survival rate falls rapidly after that age. We have identified 85% of the mutations on the CFTR gene in a sample of 29% of the families (506 CF chromosomes). Mutation delta F508 is found in 72% of Irish CF chromoso...

  19. Cystic Fibrosis Diagnosis and Newborn Screening.

    Science.gov (United States)

    Rosenfeld, Margaret; Sontag, Marci K; Ren, Clement L

    2016-08-01

    The diagnosis of cystic fibrosis (CF) has evolved over the past decade as newborn screening has become universal in the United States and elsewhere. The heterogeneity of phenotypes associated with CF transmembrane conductance regulator (CFTR) dysfunction and mutations in the CFTR gene has become clearer, ranging from classic pancreatic-insufficient CF to manifestations in only 1 organ system to indeterminate diagnoses identified by newborn screening. The tools available for diagnosis have also expanded. This article reviews the newest diagnostic criteria for CF, newborn screening, prenatal screening and diagnosis, and indeterminate diagnoses in newborn-screened infants and symptomatic adults. PMID:27469178

  20. Characteristics and consequences of airway colonization by filamentous fungi in 201 adult patients with cystic fibrosis in France.

    Science.gov (United States)

    Paugam, André; Baixench, Marie-Thérèse; Demazes-Dufeu, Nadine; Burgel, Pierre-Régis; Sauter, Elise; Kanaan, Reem; Dusser, Daniel; Dupouy-Camet, Jean; Hubert, Dominique

    2010-11-01

    A total of 657 sputum samples from 201 cystic fibrosis adult patients were collected during a 24-month period (2005-2006). We retrospectively analyzed the fungal colonization of the respiratory tract of these individuals by linking medical records and microbiological data. Filamentous fungi were isolated from specimens of 65.6% of the patients, with Aspergillus fumigatus being the predominant species recovered as it was found in specimens of 56.7% of the patients. We observed no difference for gender, pancreatic status and cirrhosis in patients with or without A. fumigatus colonization. We found a higher percentage of recovery of Pseudomonas aeruginosa, Stenotrophomonas maltophilia and nontuberculous mycobacteria in patients with A. fumigatus colonization. During the follow-up period of the study, 8.9% of the patients were diagnosed with allergic bronchopulmonary aspergillosis (ABPA). By a multivariate analysis we demonstrated that Scedosporium apiospermum was significantly associated with ABPA (Odds ratio = 13 [2-80]) as opposed to A. fumigatus (Odds ratio = 1.58 [0.49-5.05]). PMID:21067327

  1. Development, validation, and implementation of a questionnaire assessing disease knowledge and understanding in adult cystic fibrosis patients.

    LENUS (Irish Health Repository)

    Siklosi, Karen R

    2012-02-01

    BACKGROUND: The number of adults living with cystic fibrosis (CF) is increasing, necessitating an assessment of knowledge in this growing population. METHODS: A questionnaire assessing CF knowledge was completed by 100 CF patients (median age: 26.0 years, range 17-49 years; median FEV: 57.0% predicted, range 20-127% predicted). Level of knowledge was correlated with clinical and sociodemographic characteristics. RESULTS: Questionnaire validation showed acceptable internal consistency (alpha=0.75) and test-retest reliability (0.94). Patients had fair overall understanding of CF (mean=72.4%, SD=13.1), with greater knowledge of lung and gastrointestinal topics (mean=81.6%, SD=11.6) than reproduction and genetics topics (mean=57.9%, SD=24.1). Females and those with post-secondary education scored significantly higher (p<0.05). CONCLUSIONS: This study validated a questionnaire that can be utilized to assess CF knowledge. Although CF patients understand most aspects of their disease, knowledge deficits are common - particularly regarding genetics and reproduction - and should be considered when developing CF education programs.

  2. Interspecific small molecule interactions between clinical isolates of Pseudomonas aeruginosa and Staphylococcus aureus from adult cystic fibrosis patients.

    Directory of Open Access Journals (Sweden)

    Alexandre Fugère

    Full Text Available Pseudomonas aeruginosa and Staphylococcus aureus are the most prevalent pathogens in airway infections of cystic fibrosis (CF patients. We studied how these pathogens coexist and interact with each other. Clinical isolates of both species were retrieved from adult CF patients. Culture supernatants from 63 P. aeruginosa isolates triggered a wide range of biofilm-stimulatory activities when added to the culture of a control S. aureus strain. The extent of biofilm formation by S. aureus was positively correlated to the levels of the 2-alkyl-4-(1H-quinolones (AQs Pseudomonas Quinolone Signal (PQS and 2-heptyl-4-hydroxy quinoline N-oxide (HQNO produced by the P. aeruginosa isolates. Supernatants from P. aeruginosa isogenic mutants deficient in PQS and HQNO production stimulated significantly less biofilm formation by S. aureus than that seen with the parental strain PA14. When studying co-isolated pairs of P. aeruginosa and S. aureus retrieved from patients showing both pathogens, P. aeruginosa supernatants stimulated less biofilm production by the S. aureus counterparts compared to that observed using the control S. aureus strain. Accordingly, some P. aeruginosa isolates produced low levels of exoproducts and also some of the clinical S. aureus isolates were not stimulated by their co-isolates or by PA14 despite adequate production of HQNO. This suggests that colonization of the CF lungs promotes some type of strain selection, or that co-existence requires specific adaptations by either or both pathogens. Results provide insights on bacterial interactions in CF.

  3. Dietary intake and nutritional status of micronutrients in adults with cystic fibrosis in relation to current recommendations.

    Science.gov (United States)

    Li, Li; Somerset, Shawn

    2016-08-01

    An increased prevalence of cystic fibrosis (CF) related complications such as impaired bone health and diabetes has accompanied increased survival of patients with CF. This review was conducted to determine the extent to which adults with CF are meeting current nutrition recommendations for micronutrients in association with CF-related complications management. Although dietary intake and nutritional status in CF has improved significantly in recent decades, micronutrient status seems to have diverged. While vitamin A and E intakes appear adequate, frequent vitamin D and K deficiency/insufficiency and compromised bone health in CF, occurs despite supplementation. Although deficiency of water-soluble vitamins and minerals is uncommon, ongoing surveillance will enhance overall health outcomes, particularly in cases of CF-related liver disease and deteriorated lung function and bone health. Salt and fluid status in CF may also need attention due to diminished thirst sensation and voluntary rehydration. Further investigation in micronutrient status optimisation in CF will inform the development of more effective and targeted nutrition therapies to enable integration of more refined recommendations for micronutrient intakes in CF based on individual needs and disease progression. PMID:26159903

  4. Aspergillus infections in cystic fibrosis.

    Science.gov (United States)

    King, Jill; Brunel, Shan F; Warris, Adilia

    2016-07-01

    Patients with cystic fibrosis (CF) suffer from chronic lung infection and airway inflammation. Respiratory failure secondary to chronic or recurrent infection remains the commonest cause of death and accounts for over 90% of mortality. Bacteria as Staphylococcus aureus, Pseudomonas aeruginosa and Burkholderia cepacia complex have been regarded the main CF pathogens and their role in progressive lung decline has been studied extensively. Little attention has been paid to the role of Aspergillus spp. and other filamentous fungi in the pathogenesis of non-ABPA (allergic bronchopulmonary aspergillosis) respiratory disease in CF, despite their frequent recovery in respiratory samples. It has become more apparent however, that Aspergillus spp. may play an important role in chronic lung disease in CF. Research delineating the underlying mechanisms of Aspergillus persistence and infection in the CF lung and its link to lung deterioration is lacking. This review summarizes the Aspergillus disease phenotypes observed in CF, discusses the role of CFTR (cystic fibrosis transmembrane conductance regulator)-protein in innate immune responses and new treatment modalities. PMID:27177733

  5. Symposium 6: Young people, artificial nutrition and transitional care. The nutritional challenges of the young adult with cystic fibrosis: transition.

    Science.gov (United States)

    Morton, Alison M

    2009-11-01

    Cystic fibrosis (CF) is a complex multisystem disorder affecting mainly the gastrointestinal tract and respiratory system. Intestinal malabsorption occurs in approximately 90% of patients. In the past, malnutrition was an inevitable consequence of disease progression, leading to poor growth, impaired respiratory muscle function, decreased exercise tolerance and immunological impairment. A positive association between body weight and height and survival has been widely reported. The energy requirements of patients with CF vary widely and generally increase with age and disease severity. For many young adults requirements will be 120-150% of the age-related estimated average requirement. To meet these energy needs patients are encouraged to eat a high-fat high-energy diet with appropriate pancreatic enzyme supplements. Many patients are unable to achieve an adequate intake as a result of a variety of factors including chronic poor appetite, infection-related anorexia, gastro-oesophageal reflux and abdominal pain. Oral energy supplements and enteral tube feeding are widely used. Nutritional support has been shown to improve nutritional status and stabilise or slow the rate of decline in lung function. With such emphasis on nutritional intake and nutritional status throughout life, poor adherence to therapies and issues relating to body image are emerging. The median survival of patients with CF is increasing. CF is now considered a life-limiting disease of adulthood rather than a terminal childhood illness. With increased longevity new challenges are emerging that include the transition of young adults with CF to adult services, CF-related diabetes, disordered eating, osteoporosis, liver disease and transplantation. PMID:19698200

  6. Symposium 6: Young people, artificial nutrition and transitional care. The nutritional challenges of the young adult with cystic fibrosis: transition.

    LENUS (Irish Health Repository)

    Morton, Alison M

    2012-02-01

    Cystic fibrosis (CF) is a complex multisystem disorder affecting mainly the gastrointestinal tract and respiratory system. Intestinal malabsorption occurs in approximately 90% of patients. In the past, malnutrition was an inevitable consequence of disease progression, leading to poor growth, impaired respiratory muscle function, decreased exercise tolerance and immunological impairment. A positive association between body weight and height and survival has been widely reported. The energy requirements of patients with CF vary widely and generally increase with age and disease severity. For many young adults requirements will be 120-150% of the age-related estimated average requirement. To meet these energy needs patients are encouraged to eat a high-fat high-energy diet with appropriate pancreatic enzyme supplements. Many patients are unable to achieve an adequate intake as a result of a variety of factors including chronic poor appetite, infection-related anorexia, gastro-oesophageal reflux and abdominal pain. Oral energy supplements and enteral tube feeding are widely used. Nutritional support has been shown to improve nutritional status and stabilise or slow the rate of decline in lung function. With such emphasis on nutritional intake and nutritional status throughout life, poor adherence to therapies and issues relating to body image are emerging. The median survival of patients with CF is increasing. CF is now considered a life-limiting disease of adulthood rather than a terminal childhood illness. With increased longevity new challenges are emerging that include the transition of young adults with CF to adult services, CF-related diabetes, disordered eating, osteoporosis, liver disease and transplantation.

  7. A pilot investigation into the effects of electrical muscle stimulation training on physical fitness in an adult cystic fibrosis population

    OpenAIRE

    Holcroft, Lorna; Coughlan, Garrett; Crowe, Louis; Caulfield, Brian; Nicholson, T.; Barry, P.; Gallagher, C. G.

    2010-01-01

    Cystic Fibrosis (CF) is the most common life-limiting genetic disease in Caucasians. [1] Progressive respiratory and gastro intestinal disease are the predominant clinical manifestations of the disease. As a consequence of general de-conditioning, skeletal muscle weakness and exercise intolerance is prevalent among patients with CF. [2] Although higher levels of fitness have been associated with better quality of wellbeing and eight-year survival, training among individuals with CF is limited...

  8. Vitamin D deficiency as a risk factor for cystic fibrosis-related diabetes in the Scandinavian Cystic Fibrosis Nutritional Study

    DEFF Research Database (Denmark)

    Pincikova, T; Nilsson, Kristine Kahr; Moen, I E;

    2011-01-01

    Many cystic fibrosis patients are vitamin D-insufficient. Cystic fibrosis-related diabetes is a major complication of cystic fibrosis. The literature suggests that vitamin D might possess certain glucose-lowering properties. We aimed to assess the relationship between vitamin D and cystic fibrosis...

  9. Plasma lactoferrin levels in pregnancy and cystic fibrosis

    International Nuclear Information System (INIS)

    Plasma lactoferrin levels have been determined by radioimmunoassay for the different weeks of normal pregnancy, in normal healthy adults and in children with and without cystic fibrosis. The lactoferrin levels were higher in pregnancy than in both male and female normal adults and showed a slight progressive increase up to week 29 and thereafter remained high. Five out of seven children with cystic fibrosis had markedly raised plasma lactoferrin levels from six to 16 times higher than the mean of a control group of children. (Auth.)

  10. Self-Efficacy, Pulmonary Function, Perceived Health and Global Quality of Life of Cystic Fibrosis Patients

    Science.gov (United States)

    Wahl, Astrid K.; Rustoen ,Tone; Hanestad, Berit R.; Gjengedal, Eva; Moum, Torbjorn

    2005-01-01

    This study examined the extent that pulmonary function is related to perceived health status and global quality of life in adults suffering from cystic fibrosis, and the extent that self-efficacy modifies these relationships. Our sample comprised 86 adults (48% female; mean age, 29 years; age range, 18-54 years) with cystic fibrosis, recruited…

  11. Pulmonary changes in cystic fibrosis

    International Nuclear Information System (INIS)

    Pulmonary abnormalities in cystic fibrosis result from the obstruction of small bronchi by highly viscous mucus. Chronic obstructive lung disease and recurrent pulmonary infections result in a typical radiographic pattern later in the disease. Most patients can now be expected to survive into adulthood. The radiologist must make a careful comparison of serial films in order to detect complications early. By far the most important imaging modality is the conventional chest radiograph. CT is more sensitive for detection of structural abnormalities of the lung. Bronchography is a dangerous procedure and can lead to rapid deterioration of lung function. Lung scanning is a very sensitive method for demonstrating regional disturbances of ventilation and may reveal abnormalities earlier than conventional radiographs. In severe hemoptysis, selective bronchial arteriography with embolization of the bleeding vessel can be a life-saving procedure. (orig.)

  12. Pathohistological changes in fetuses with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Đolai Matilda

    2012-01-01

    Full Text Available Introduction. Cystic fibrosis or mucoviscidosis is a genetically caused disease. The intensity of disease and histopathological changes grow throughout the life. According to the literature, pathological changes characteristic of cystic fibrosis become noticeable around the sixth month of life. Case Report. After amniocentesis of a 5-lunar month-old fetus had been done, which confirmed cystic fibrosis, the Ethics Commission approved the preterm labor. The autopsy and histopathological analysis demonstrated the existence of typical histopathological changes in the pancreas and intestines. Discussion. In the late fetal period or during the period around the delivery, cystic fibrosis is usually manifested as meconial cap with or without obstruction of the intestinal lumen. Morphological changes in the exocrine glands usually develop only after birth. In this case, the existence of meconial obstruction, as well as the typical acidofil content in the secretory ducts and acini of the pancreas was confirmed, which is unusual for the fetal age of five months.

  13. Nutrition in Cystic Fibrosis: Macro- and Micronutrients

    NARCIS (Netherlands)

    Oudshoorn, Johanna Hermiena

    2006-01-01

    Cystic fibrosis (CF) is the most common life-threatening autosomal recessive inherited disease in Caucasians, and is characterized by progressive lung disease, pancreatic insufficiency, malnutrition, hepatobiliary disease and elevated sweat electrolyte levels. The increased survival of CF patients d

  14. Immunoreactive trypsin and neonatalscreening for cystic fibrosis

    International Nuclear Information System (INIS)

    Immunoreactive trypsin (IRT) was measured in dried blood spots from 160.822 five-day-old babies as a part of a regionwide neonatal screening program for cystic fibrosis. A second test was performed for 492 babies in whom blood IRT levels were found greater than 900 μg/l; retesting revealed persistent elevation in 55. Sweat testing confirmed cystic fibrosis in 43 babies, but results were normal in 12. During the course of this study, a total of 51 cystic fibrosis babies were identified: 43 by newborn screening, 6 because they had meconium ileus; so, early diagnosis was achieved in 49 cases out of 51. Two newborn babies did not have elevated IRT and they were missed by the screening test. Our results confirm that elevated blood IRT is characteristic of newborn babies with cystic fibrosis and show that this test has an excellent specificity (99.7%) and a good sensitivity (95%) when used as a neonatal screening test

  15. Global impact of bronchiectasis and cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Margarida Redondo

    2016-09-01

    To understand variation in the aetiology, microbiology and burden of bronchiectasis and cystic fibrosis across different global healthcare systems.; Bronchiectasis is the term used to refer to dilatation of the bronchi that is usually permanent and is associated with a clinical syndrome of cough, sputum production and recurrent respiratory infections. It can be caused by a range of inherited and acquired disorders, or may be idiopathic in nature. The most well recognised inherited disorder in Western countries is cystic fibrosis (CF, an autosomal recessive condition that leads to progressive bronchiectasis, bacterial infection and premature mortality. Both bronchiectasis due to CF and bronchiectasis due to other conditions are placing an increasing burden on healthcare systems internationally. Treatments for CF are becoming more effective leading to more adult patients with complex healthcare needs. Bronchiectasis not due to CF is becoming increasingly recognised, particularly in the elderly population. Recognition is important and can lead to identification of the underlying cause, appropriate treatment and improved quality of life. The disease is highly diverse in its presentation, requiring all respiratory physicians to have knowledge of the different “bronchiectasis syndromes”. The most common aetiologies and presenting syndromes vary depending on geography, with nontuberculous mycobacterial disease predominating in some parts of North America, post-infectious and idiopathic disease predominating in Western Europe, and post-tuberculosis bronchiectasis dominating in South Asia and Eastern Europe. Ongoing global collaborative studies will greatly advance our understanding of the international impact of bronchiectasis and CF.

  16. Sexual and reproductive health in cystic fibrosis: a life-course perspective.

    Science.gov (United States)

    Frayman, Katherine B; Sawyer, Susan M

    2015-01-01

    Adolescents and adults with cystic fibrosis now approach developmental milestones, including sexual and reproductive ones, at a similar time to their healthy peers. Yet, their sexual and reproductive health (SRH) is profoundly affected by their disease, and their SRH decisions can substantially affect their health. Navigation of SRH milestones in the context of cystic fibrosis needs education, guidance, and access to SRH services. In this Review, we discuss scientific knowledge of SRH in patients with cystic fibrosis across the life course and clinical practices for SRH within cystic fibrosis care. We identify crucial gaps in SRH education of patients and their access to resources and then present a model of care for provision of developmentally appropriate SRH education and care within cystic fibrosis services across the life course. This model emphasises the central importance of the cystic fibrosis team and service links to primary and specialist SRH care. PMID:25529340

  17. Fibrose cística no adulto: aspectos diagnósticos e terapêuticos Cystic fibrosis in adults: diagnostic and therapeutic aspects

    Directory of Open Access Journals (Sweden)

    Paulo de Tarso Roth Dalcin

    2008-02-01

    Full Text Available A fibrose cística, que já foi considerada uma doença da infância, é agora também uma doença do adulto. O aumento da longevidade resultou em mais problemas médicos relacionados com a idade e com a própria doença. O crescente número de adultos com fibrose cística resultou em aumento da necessidade de cuidados médicos. Essa necessidade tem sido suprida por um crescente número de pneumologistas de adultos e outros especialistas. O objetivo dessa revisão é sumarizar o conhecimento corrente sobre o diagnóstico e tratamento no adulto com fibrose cística. Na maioria dos casos, o diagnóstico é sugerido por manifestações de doença sinopulmonar crônica e insuficiência pancreática exócrina, e, então, confirmado por um teste do suor positivo. Pacientes adultos podem, entretanto, apresentar suficiência pancreática e características clínicas atípicas, às vezes, associadas com teste do suor normal ou limítrofe. Em tais casos, a possibilidade de realizar pesquisa de mutações para fibrose cística e de medir a diferença de potencial nasal pode ser de utilidade diagnóstica. A abordagem terapêutica padrão para a doença pulmonar inclui: antibióticos, higiene das vias aéreas, exercício, mucolíticos, broncodilatadores, oxigênio, agentes anti-inflamatórios e suporte nutricional. A utilização adequada dessas terapias resulta em mais pacientes com fibrose cística sobrevivendo na vida adulta com uma aceitável qualidade de vida.Once considered a childhood disease, cystic fibrosis is now also a disease of adults. Increased longevity has resulted in the aging of the cystic fibrosis population. The consequent age-related medical problems among adults with cystic fibrosis have increased medical care needs. These needs are being met by a growing number of non-pediatric pulmonologists and other non-pediatric specialists. The objective of this review was to summarize the current knowledge about diagnosis and treatment in adult

  18. Male fertility in cystic fibrosis.

    LENUS (Irish Health Repository)

    Chotirmall, S H

    2011-04-05

    Infertility rates among males with cystic fibrosis (CF) approximate 97%. No information is currently available within Ireland determining an understanding of fertility issues and the best methods of information provision to this specialized group. This study aimed to determine understanding and preferred approaches to information provision on fertility issues to Irish CF males. A Descriptive Study utilizing prospective coded questionnaires was mailed to a male CF cohort (n=50). Sections included demographics, fertility knowledge & investigation. Response rate was 16\\/50 (32%). All were aware that CF affected their fertility. More than two-thirds (n=11) were able to provide explanations whilst only one-third (n=5) provided the correct explanation. Significant numbers stated thoughts of marriage and a future family. Half have discussed fertility with a healthcare professional (HCP). Mean age of discussion was 21.9 years. One third preferred an earlier discussion. The commonest first source for information was written material which was also the preferred source. Three-quarters requested further information preferring again, written material. Significant gaps in sex education of Irish CF males exist. Discussion should be initiated by HCPs and centre-directed written material devised to address deficiencies.

  19. Lung function in adult patients with cystic fibrosis after using the eFlow® rapid for one year

    Directory of Open Access Journals (Sweden)

    Naehrig S

    2011-02-01

    Full Text Available Abstract Background The new generation nebuliser PARI eFlow® rapid allows a highly efficient aerosol delivery at reduced inhalation time. However, lung function data during long-term use of this device are not available until now. Methods 70 clinically stable adult cystic fibrosis patients participated in this observation study. Lung function tests were performed prospectively 12 weeks after and again 9 to 12 months after switching the inhalation device from a conventional jet nebulizer to the PARI eFlow® rapid. Lung function data were collected retrospectively from the visits 1 year as well as 12 weeks prior to the switch-over. Lung function data for all time points were only available for 59 patients. Treatment time and patient's satification were recorded for both conventional and new nebuliser in all 70 patients. Results After 1 year of inhalation with eFlow® rapid, the mean change in FEV1% was -- 1.4% (n = 59 patients. The decrease in FEV1 was smaller than the change in FEV1 after 1 year of inhalation with the conventional jet nebuliser (control period, -3.1%, although this difference was not statistically significant. The same effect was seen in MEF25[%] '(-2.6% with conventional nebuliser compared to --1.6% after eFlow® rapid. Concerning the FVC, there was a greater improvement after 1 year of inhalation with the eFlow® rapid than with the jet nebuliser (+ 2.9% vs. +1.1%. For PEF%, there was an increase during the control period, whereas after inhalation with eFlow® rapid there was a decrease (+1.1% vs. --2.9%. All changes were not significantly different. The eFlow® rapid reduced total daily inhalation time by two-thirds (conventional nebuliser: 31.1 min/day; eFlow® rapid: 10.2 min/day, n = 70 patients Conclusion Inhalation with the new nebuliser eFlow rapid does not alter FEV1, FVC or PEF significantly after 1 year of inhalation. The treatment time could be reduced significantly by the eFlow® rapid.

  20. Microbial ecology and adaptation in cystic fibrosis airways

    DEFF Research Database (Denmark)

    Yang, Lei; Jelsbak, Lars; Molin, Søren

    2011-01-01

    Chronic infections in the respiratory tracts of cystic fibrosis (CF) patients are important to investigate, both from medical and from fundamental ecological points of view. Cystic fibrosis respiratory tracts can be described as natural environments harbouring persisting microbial communities with...

  1. Nitric oxide metabolites in cystic fibrosis lung disease

    OpenAIRE

    Grasemann, H; Ioannidis, I.; Tomkiewicz, R; de Groot, H.; Rubin, B; Ratjen, F

    1998-01-01

    Although the activity of nitric oxide (NO) synthases are increased in lung tissue of patients with cystic fibrosis, the concentrations of nasal and exhaled NO have recently been found to be decreased in cystic fibrosis. This could either be due to reduced NO formation or metabolism of NO within airway fluids. In this study, the stable NO metabolites, nitrate and nitrite, were determined in the saliva and sputum of 18 stable cystic fibrosis patients, 21 cystic fibrosis pat...

  2. Vitamin K and the management of patients with cystic fibrosis.

    OpenAIRE

    Durie, P R

    1994-01-01

    OBJECTIVE: To assess the advisability of routine vitamin K supplementation in patients with cystic fibrosis (CF). DATA SOURCES: Studies identified through a MEDLINE search with the use of MeSH terms vitamin K, cystic fibrosis, PIVKA-II (protein induced by vitamin K absence-II), coagulation abnormality and cystic fibrosis, and hepatic disorder and cystic fibrosis. STUDY SELECTION: Six articles published between January 1981 and December 1992 were selected: one general review of vitamin K in in...

  3. Acute Scedosporium apiospermum Endobronchial Infection in Cystic Fibrosis.

    Science.gov (United States)

    Padoan, Rita; Poli, Piercarlo; Colombrita, Domenico; Borghi, Elisa; Timpano, Silviana; Berlucchi, Marco

    2016-06-01

    Fungi are known pathogens in cystic fibrosis patients. A boy with cystic fibrosis boy presented with acute respiratory distress. Bronchoscopy showed airways obstruction by mucus plugs and bronchial casts. Scedosporium apiospermum was identified as the only pathogen. Bronchoalveolar lavage successfully resolved the acute obstruction. Plastic bronchitis is a new clinical picture of acute Scedosporium endobronchial colonization in cystic fibrosis patients. PMID:26967814

  4. Endocytosis and intracellular protein degradation in cystic fibrosis fibroblasts

    International Nuclear Information System (INIS)

    Normal rates of pinocytosis of [3H]sucrose were measured in cystic fibrosis fibroblasts, and were not affected by the addition of cystic fibrosis serum. Bulk protein degradation (a significant proportion of which occurs intralysosomally following autophagy) and its regulation by growth state were apparently identical in normal and cystic fibrosis cultures. (Auth.)

  5. Dyspnea perception in cystic fibrosis patients

    Directory of Open Access Journals (Sweden)

    B. Ziegler

    2013-09-01

    Full Text Available We evaluated dyspnea perception in cystic fibrosis patients compared with normal subjects, during an inspiratory resistive loading test and 6-min walk test. We also evaluated the correlation between dyspnea scores induced by resistive loads and by the 6-min walk test. In this prospective, cross-sectional study, 31 patients with cystic fibrosis (≥15 years of age and 31 age-, gender-, and ethnicity-matched healthy volunteers (20 females and 11 males per group underwent inspiratory resistive loading, spirometry, and the 6-min walk test. As the magnitude of the inspiratory loads increased, dyspnea scores increased (P<0.001, but there was no difference between groups in dyspnea score (P=0.654. Twenty-six (84% normal subjects completed all the resistive loads, compared with only 12 (39% cystic fibrosis patients (P<0.001. Dyspnea scores were higher after the 6-min walk test than at rest (P<0.001, but did not differ between groups (P=0.080. Post-6-min walk test dyspnea scores correlated significantly with dyspnea scores induced by resistive loads. We conclude that dyspnea perception induced in cystic fibrosis patients by inspiratory resistive loading and by 6-min walk test did not differ from that induced in normal subjects. However, cystic fibrosis patients discontinued inspiratory resistive loading more frequently. There were significant correlations between dyspnea perception scores induced by inspiratory resistance loading and by the 6-min walk test. This study should alert clinicians to the fact that some cystic fibrosis patients fail to discriminate dyspnea perception and could be at risk for delay in seeking medical care.

  6. Atrophic-appearing Pancreas on Magnetic Resonance Cholangiopancreatography as Initial Presentation of Cystic Fibrosis

    OpenAIRE

    Stratton, Amy; Murphy, Thomas; Laczek, Jeffrey

    2012-01-01

    Cystic fibrosis is an autosomal recessive disease typically diagnosed in early childhood secondary to pulmonary manifestations. We present the unusual case of a 20-year-old man being diagnosed with cystic fibrosis after he was incidentally noted to have an atrophic pancreas on magnetic resonance cholangiopancreatography. He had no sign of chronic pancreatitis or symptoms of exocrine pancreatic insufficiency. As pancreatic atrophy is rare in young adults, the patient was evaluated for cystic f...

  7. Genetics of Cystic Fibrosis: Clinical Implications.

    Science.gov (United States)

    Egan, Marie E

    2016-03-01

    Cystic fibrosis (CF) is a common life-shortening autosomal recessive genetic disorder caused by mutations in the gene that encodes for the cystic fibrosis transmembrane conductance regulator protein (CFTR). Almost 2000 variants in the CFTR gene have been identified. The mutational classes are based on the functional consequences on CFTR. New therapies are being developed to target mutant CFTR and restore CFTR function. Understanding specific CF genotypes is essential for providing state-of-the art care to patients. In addition to the variation in CFTR genotype, there are several modifier genes that contribute to the respiratory phenotype. PMID:26857764

  8. Cystic fibrosis, intravenous antibiotics, and home therapy.

    Science.gov (United States)

    Hammond, L J; Caldwell, S; Campbell, P W

    1991-01-01

    The survival rate of patients with cystic fibrosis has improved considerably in the last 20 years. Although not all of the factors accounting for this change are understood, aggressive nutritional management and treatment of pulmonary exacerbations certainly play a role. Home intravenous (IV) antibiotic delivery for pulmonary exacerbation has proved to be as effective as hospital treatment and offers significant advantages to the patient and family. This article examines the microbiology of pulmonary infections in patients with cystic fibrosis, as well as antimicrobial therapy, methods of IV administration, home IV therapy, and the nurse practitioner's role in this home program in the future. PMID:1990112

  9. Qulaity of Life in Cystic Fibrosis Children

    OpenAIRE

    Hamid-Reza Kianifar; Banafsheh Bakhshoodeh; Paria Hebrani; Fatemeh Behdani

    2013-01-01

    Objective: Cystic fibrosis (CF) is a chronic, multisystem genetic disease with a wide variability in clinical severity. The measurement of quality of life in CF provides additional information about the impact of this disease. This article tries to assess quality of life (QoL) in children and adolescents with CF and to compare it with control group.Methods: Patients 2-18 years old with admission diagnosis of cystic fibrosis entered the study. QoL was observed in CF patients and compared with ...

  10. Zinc supplementation in children with cystic fibrosis

    Science.gov (United States)

    Cystic fibrosis (CF) leads to malabsorption of macro- and micronutrients. Symptomatic zinc deficiency has been reported in CF but little is known about zinc homeostasis in children with CF. Zinc supplementation (Zn suppl) is increasingly common in children with CF but it is not without theoretcial r...

  11. Nutritional assessment in children with cystic fibrosis

    Science.gov (United States)

    Optimal nutrition, including consuming 35–40% of calories (kcal) as fat, is a vital part of the management of cystic fibrosis (CF), and involves accurate assessment of dietary intake. We compared 3 methods of nutritional assessment in 8– to 14-year-old children (n=20) with CF: 1) a 24-h Dietary Reca...

  12. Pseudomonas aeruginosa biofilms in cystic fibrosis

    DEFF Research Database (Denmark)

    Høiby, Niels; Ciofu, Oana; Bjarnsholt, Thomas

    2010-01-01

    The persistence of chronic Pseudomonas aeruginosa lung infections in cystic fibrosis (CF) patients is due to biofilm-growing mucoid (alginate-producing) strains. A biofilm is a structured consortium of bacteria, embedded in a self-produced polymer matrix consisting of polysaccharide, protein and...

  13. Barriers to adherence in cystic fibrosis

    DEFF Research Database (Denmark)

    Bregnballe, Vibeke; Schiøtz, Peter Oluf

    2012-01-01

    Danish patients with cystic fibrosis aged 14 to 25 years and their parents. Conclusions: The present study showed that the majority of adolescents with CF and their parents experienced barriers to treatment adherence. Patients and parents agreed that the three most common barriers encountered lack of...

  14. Inhalation of antibiotics in cystic fibrosis

    NARCIS (Netherlands)

    Touw, D J; Brimicombe, R W; Hodson, M E; Heijerman, H G; Bakker, W

    1995-01-01

    Aerosol administration of antipseudomonal antibiotics is commonly used in cystic fibrosis. However, its contribution to the improvement of lung function, infection and quality of life is not well-established. All articles published from 1965 until the present time concerning the inhalation of antibi

  15. Cystic fibrosis, are we missing in India?

    Directory of Open Access Journals (Sweden)

    Pramila Menon

    2012-09-01

    Full Text Available Introduction: This study was undertaken to evaluate and improve the availability and accessibility of CF services in Maharashtra, Pune,India. Material and methods: Tool used was a questionnaire (Annexure I which was prevalidated by the departmental faculty with 15 items which included experience regarding CF patients in relation to knowledge about diagnosis and prognosis of CF patients, availability about diagnostic and management services of CF wasadministered to the pediatricians who participated in the training workshop at Pune Regional centre, Aundh, Pune, Maharashtra, India. ( n = 40. Results: 92.5% agreed that Cystic fibrosis (CF, is now a pan ethnic disease. 100% accepted that the factors that are associated with decreased survival in CF patients from developing countries are early age of onset of symptoms, severe malnutrition at the time of diagnosis and frequent episodes of pneumonia. Severemalnutrition, not responding to nutritional therapy , neonatal meconium ileus and recurrent pneumonia , 87.5% 100% and 85% suspect cystic fibrosis respectively. 90% do not have facilities for diagnosis of cystic fibrosis like sweat chloride test and 87.5% felt absence of facilities makes the diagnosis of cystic fibrosis difficult. 90% agreed that the education of pediatricians about the disease, can improve the quality of life and survival in CF. Conclusion: Inadequacy of diagnostic services for CF may be reason for missing CF cases in India and we need to sensitize the health professionals for CF diagnosis and develop better diagnostic and patient support services for CF.

  16. The cystic fibrosis of exocrine pancreas

    DEFF Research Database (Denmark)

    Wilschanski, Michael; Novak, Ivana

    2013-01-01

    The cystic fibrosis transmembrane conductance regulator (CFTR) protein is highly expressed in the pancreatic duct epithelia and permits anions and water to enter the ductal lumen. This results in an increased volume of alkaline fluid allowing the highly concentrated proteins secreted by the acina...... (CF) and pancreatitis, and outline present and potential therapeutic approaches in CF treatment relevant to the pancreas....

  17. [Macrolides, Pseudomonas aeruginosa and cystic fibrosis].

    Science.gov (United States)

    Guillot, M; Amiour, M; El Hachem, C; Harchaoui, S; Ribault, V; Paris, C

    2006-10-01

    Long-term low dose azithromycin treatment in cystic fibrosis patients with chronic Pseudomonas aeruginosa infection is safe and reduces the decline in lung function, the number of acute exacerbations and improves nutritional status; underlying efficacy mechanisms are multiple and synergistic. PMID:17370396

  18. Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis *

    OpenAIRE

    Dal'Maso, Vinícius Buaes; Mallmann, Lucas; Siebert, Marina; Simon, Laura; Saraiva-Pereira, Maria Luiza; Dalcin, Paulo de Tarso Roth

    2013-01-01

    OBJECTIVE: To evaluate the diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients suspected of having mild or atypical cystic fibrosis (CF). METHODS: This was a cross-sectional study involving adolescents and adults aged ≥ 14 years. Volunteers underwent clinical, laboratory, and radiological evaluation, as well as spirometry, sputum microbiology, liver ultrasound, sweat tests, and molecular analysis of the CFTR gene. We...

  19. US Cystic Fibrosis Foundation and European Cystic Fibrosis Society consensus recommendations for the management of non-tuberculous mycobacteria in individuals with cystic fibrosis: executive summary

    OpenAIRE

    Floto, R. Andres; Olivier, Kenneth N.; Saiman, Lisa; Daley, Charles L.; Herrmann, Jean-Louis; Nick, Jerry A.; Noone, Peadar G; Bilton, Diana; Corris, Paul; Gibson, Ronald L.; Hempstead, Sarah E.; Koetz, Karsten; Sabadosa, Kathryn A; Sermet-Gaudelus, Isabelle; Smyth, Alan R

    2016-01-01

    Non-tuberculous mycobacteria (NTM) are ubiquitous environmental organisms that can cause chronic pulmonary infection, particularly in individuals with pre-existing inflammatory lung disease, such as cystic fibrosis (CF). Pulmonary disease (PD) caused by NTM has emerged as a major threat to the health of individuals with CF, but remains difficult to diagnose and problematic to treat. In response to this challenge, the US Cystic Fibrosis Foundation (CFF) and the European Cystic Fibrosis Society...

  20. US Cystic Fibrosis Foundation and European Cystic Fibrosis Society consensus recommendations for the management of non-tuberculous mycobacteria in individuals with cystic fibrosis

    OpenAIRE

    Floto, R. Andres; Olivier, Kenneth N.; Saiman, Lisa; Daley, Charles L.; Herrmann, Jean-Louis; Nick, Jerry A.; Noone, Peadar G; Bilton, Diana; Corris, Paul; Gibson, Ronald L.; Hempstead, Sarah E.; Koetz, Karsten; Sabadosa, Kathryn A; Sermet-Gaudelus, Isabelle; Smyth, Alan R

    2015-01-01

    Non-tuberculous mycobacteria (NTM) are ubiquitous environmental organisms that can cause chronic pulmonary infection, particularly in individuals with pre-existing inflammatory lung disease such as cystic fibrosis (CF). Pulmonary disease caused by NTM has emerged as a major threat to the health of individuals with CF but remains difficult to diagnose and problematic to treat. In response to this challenge, the US Cystic Fibrosis Foundation (CFF) and the European Cystic Fibrosis Society (ECFS)...

  1. Exercise Testing and Training with the Young Cystic Fibrosis Patient

    OpenAIRE

    Daniel Stevens; Craig A. Williams

    2007-01-01

    The purpose of the article is to review the literature related to exercise and Cystic fibrosis (CF), with particular focus on the young CF patient. Exercise intolerance is a characteristic of CF, however, recent studies in adults have advanced our understanding of how exercise can be used effectively as a prognostic marker and for rehabilitation purposes. New analyses from exercise testing have shown to have prognostic value, and different methods of exercise training have been reported to im...

  2. Emergence of Respiratory Streptococcus agalactiae Isolates in Cystic Fibrosis Patients

    OpenAIRE

    Vera Eickel; Barbara Kahl; Beatrice Reinisch; Angelika Dübbers; Peter Küster; Claudia Brandt; Barbara Spellerberg

    2009-01-01

    Streptococcus agalactiae is a well-known pathogen for neonates and immunocompromized adults. Beyond the neonatal period, S. agalactiae is rarely found in the respiratory tract. During 2002–2008 we noticed S. agalactiae in respiratory secretions of 30/185 (16%) of cystic fibrosis (CF) patients. The median age of these patients was 3–6 years older than the median age CF patients not harboring S. agalactiae. To analyze, if the S. agalactiae isolates from CF patients were clonal, further characte...

  3. Infertility Management in Men with Cystic Fibrosis

    Institute of Scientific and Technical Information of China (English)

    Nikita Rawal; Rafit Gazvani; Roger Mountford

    2009-01-01

    Cystic fibrosis (CF) is a multisystem autosomal recessive disorder. CF has a reported incidence of 1 in 2 500 and a carrier frequency of 1 in 25. It is caused by mutations in a gene located on the long arm of chromosome 7. With almost 50% of patients with CF now in the adult population, and a very high interest in future parenting (78% of men wanting children), there is an increasing need to be proactive in terms of advice about reproductive health. Discussion on reproduction should start in early adolescence and be regularly updated by medical staff. The recent advances in reproductive techniques have allowed the development of sperm aspiration coupled with intra-cytoplasmic sperm injection (ICSI). Spermatozoa can be retrieved from either the epididymis or the testes. Genetic counselling is strongly recommended for both partners when congenital bilateral aplasia of vas deferens (CBA VD) is diagnosed as there is the inevitability of transmitting a mutated CFTR gene, and an increased risk of producing an affected child with serious long-term implications. Most treatment centres, with the introduction of ICSI, routinely screen all males with azoospermia caused by obstruction (other than that caused by vasectomy) or germ cell failure. Protocols usually involve screening for 28 relatively common CFTR mutations. Further advanced testing may be necessary up to a final detection level of approximately 98.5%. Before considering any assisted reproduction treatment, it is pertinent that CF patients receive medical and psychological counselling.

  4. European Cystic Fibrosis Society Standards of Care

    DEFF Research Database (Denmark)

    Stern, Martin; Bertrand, Dominique Pougheon; Bignamini, Elisabetta;

    2014-01-01

    therapies, approaches to care and indeed data recording. The quality of care for individuals with CF has become a focus at several levels: patient, centre, regional, national and international. This paper reviews the quality management and improvement issues at each of these levels with particular reference......Since the earliest days of cystic fibrosis (CF) treatment, patient data have been recorded and reviewed in order to identify the factors that lead to more favourable outcomes. Large data repositories, such as the US Cystic Fibrosis Registry, which was established in the 1960s, enabled successful...... to indicators of health, the role of CF Centres, regional networks, national health policy, and international data registration and comparisons....

  5. "Bong lung" in cystic fibrosis: a case report

    Directory of Open Access Journals (Sweden)

    Hauser Jenny

    2010-11-01

    Full Text Available Abstract Introduction Marijuana or "bong" lung has been recently described. Subjects typically develop large peripheral paraseptal lung bullae and are predisposed to spontaneous pneumothoraces. The underlying mechanism for bullae formation is uncertain, but probably relates to direct lung toxicity and repeated barotrauma as the smoker performs frequent valsalva manoeuvres in an attempt to derive a greater drug effect. Case presentation We describe a case of probable "bong lung" occurring in a 23-year-old Caucasian man with cystic fibrosis who had a history of recurrent pneumothoraces and unusual findings on sputum cytology. Conclusion Our case highlights the importance of questioning young adult cystic fibrosis patients about illicit drug use and the utility of sputum cytology and computed tomography scanning when patients present with pneumothoraces and deteriorations in clinical status.

  6. Pregnancy and cystic fibrosis: Approach to contemporary management.

    Science.gov (United States)

    Geake, James; Tay, George; Callaway, Leonie; Bell, Scott C

    2014-12-01

    Over the previous 50 years survival of patients with cystic fibrosis has progressively increased. As a result of improvements in health care, increasing numbers of patients with cystic fibrosis are now considering starting families of their own. For the health care professionals who look after these patients, the assessment of the potential risks, and the process of guiding prospective parents through pregnancy and beyond can be both challenging and rewarding. To facilitate appropriate discussions about pregnancy, health care workers must have a detailed understanding of the various important issues that will ultimately need to be considered for any patient with cystic fibrosis considering parenthood. This review will address these issues. In particular, it will outline pregnancy outcomes for mothers with cystic fibrosis, issues that need to be taken into account when planning a pregnancy and the management of pregnancy for mothers with cystic fibrosis or mothers who have undergone organ transplantation as a result of cystic fibrosis. PMID:27512443

  7. Exacerbations in cystic fibrosis: 2 · Prevention

    OpenAIRE

    Bell, Scott C; Robinson, Philip J

    2007-01-01

    The life span of people with cystic fibrosis (CF) has increased dramatically over the past 50 years. Many factors have contributed to this improvement. Respiratory exacerbations of CF lung disease are associated with the need for hospitalisation and antibiotic treatment, reduction in the quality of life, fragmented sleep and mortality. A number of preventive treatment strategies have been developed to reduce the frequency and severity of respiratory exacerbations in CF including mucolytic age...

  8. Cystic Fibrosis in a Hispanic Adolescent

    OpenAIRE

    Lin, Jenny H.; Collaco, Joseph M.; Paranjape, Shruti M.

    2013-01-01

    We describe the presentation of a Hispanic adolescent with chronic respiratory symptoms and poor growth that led to a diagnosis of cystic fibrosis (CF) based on an indeterminate sweat chloride result and DNA sequence analysis that revealed a single new frameshift mutation, Nt3878insATCAG, which results in a premature stop codon in exon 20 of the CFTR gene. This case, highlighted by the identification of a deleterious, disease-causing mutation, illustrates the importance of maintaining both a ...

  9. MR imaging of pancreas in cystic fibrosis

    International Nuclear Information System (INIS)

    The pancreatic regions of 18 patients with cystic fibrosis were analyzed with a 1.5 Tesla MR unit. Signal intensity of the pancreas was correlated with clinical data and ultrasound. A hyperintense pancreas on T1-weighted image was consistent with fatty replacement of pancreatic insufficiency. A pancreas of normal soft tissue intensity was found in two asymptomatic and one symptomatic patient. A very hypointense pancreas on any pulse sequence was considered to be an intermediate stage of pancreatic degeneration. (orig.)

  10. Reversible airway obstruction in cystic fibrosis.

    OpenAIRE

    Ormerod, L P; Thomson, R A; Anderson, C. M.; Stableforth, D. E.

    1980-01-01

    Fourteen (29%) of 48 children with cystic fibrosis had a greater than 15% improvement in forced expiratory volume in one second, or in forced vital capacity after inhalation of salbutamol. All these children were atopic (one or more positive prick tests) and had a significantly higher mean serum IgE than either non-atopic subjects or those atopic subjects without airways reversibility (p less than 0.02). Half of those with airways reversibility had or subsequently developed the clinical pictu...

  11. Vitamin D Deficiency in Cystic Fibrosis

    OpenAIRE

    Hall, William B.; Sparks, Amy A.; Aris, Robert M

    2010-01-01

    Cystic Fibrosis is the most common inherited genetic respiratory disorder in the Western World. Hypovitaminosis D is almost universal in CF patients, likely due to a combination of inadequate absorption, impaired metabolism, and lack of sun exposure. Inadequate levels are associated with the high prevalence of bone disease or osteoporosis in CF patients, which is associated with increased morbidity including fractures, kyphosis, and worsening pulmonary status. Treatment goals include regular ...

  12. [Molecular epidemiology of cystic fibrosis in Tunisia].

    Science.gov (United States)

    Messaoud, T; Bel Haj Fredj, S; Bibi, A; Elion, J; Férec, C; Fattoum, S

    2005-01-01

    Cystic fibrosis is the most frequent autosomal recessive genetic disease in North European population. This pathology seems to not be rare in Tunisia. On another hand, development of molecular biology techniques has largely contributed to implement the study of the different mutations in the CFTR gene where over 1,300 mutations were reported. Herein, we describe the strategy used to detect molecular defects responsible of cystic fibrosis on 390 children (383 families) in Tunisian population. Several techniques were performed for genotype diagnosis: DNA extraction was from peripheral blood. Polymerase chain reaction (PCR) and polyacylamide gel electrophoresis, and reverse dot blot procedures were used to detect known point mutations. Denaturant gradient gel electrophoresis (DGGE) were used in a next step searching for the unknown point mutations that are later identified by automated sequencing on ABIprism 310. This strategy allowed us to detect 17 different mutations located on the different exons of the CFTR gene. The most frequent was the F508del (50.74%) followed by three other mutations (G542X, W1282X and N1303K) known to be common in the Mediterranean area. For mutations (T665S, 2766 del8, F1166C, L1043R) were exclusively found, up to now, in the Tunisian population. Our results permitted to establish cystic fibrosis mutations and their distribution in Tunisia and to implement an appropriate prevention program of these diseases through the genetic council and prenatal diagnosis. PMID:16330381

  13. Progress in therapies for cystic fibrosis.

    Science.gov (United States)

    De Boeck, Kris; Amaral, Margarida D

    2016-08-01

    Standard follow-up and symptomatic treatment have allowed most patients with cystic fibrosis to live to young adulthood. However, many patients still die prematurely from respiratory insufficiency. Hence, further investigations to improve these therapies are important and might have relevance for other diseases-eg, exploring how to increase airway hydration, how to safely downscale the increased inflammatory response in the lung, and how to better combat lung infections associated with cystic fibrosis. In parallel, development of modulators that target the underlying dysfunction in the cystic fibrosis transmembrane conductance regulator (CFTR) is fast moving forward. Existing treatments are specific to certain mutations, or mutation class, in CFTR. An effective, although not yet entirely corrective, treatment is available for patients with class III mutations, and a treatment with modest effectiveness is available for patients who are homozygous for Phe508del, albeit at a very high cost. Corrective treatments that are non-specific to mutation class and thus applicable to all patients-eg, gene therapy, cell-based therapies, and activation of alternative ion channels that bypass CFTR-are being explored, but they are still in early stages of development. In view of the large number of patients with very rare mutations, a plan to advance personalised biomarkers to predict treatment effect is also being investigated and validated. PMID:27053340

  14. Hypertonic Saline in Treatment of Pulmonary Disease in Cystic Fibrosis

    OpenAIRE

    Reeves, Emer P; Kevin Molloy; Kerstin Pohl; McElvaney, Noel G

    2012-01-01

    The pathogenesis of lung disease in cystic fibrosis is characterised by decreased airway surface liquid volume and subsequent failure of normal mucociliary clearance. Mucus within the cystic fibrosis airways is enriched in negatively charged matrices composed of DNA released from colonizing bacteria or inflammatory cells, as well as F-actin and elevated concentrations of anionic glycosaminoglycans. Therapies acting against airway mucus in cystic fibrosis include aerosolized hypertonic saline....

  15. Pulmonary abnormalities in obligate heterozygotes for cystic fibrosis.

    OpenAIRE

    Davis, P B; Vargo, K

    1987-01-01

    Parents of children with cystic fibrosis have been reported to have a high prevalence of increased airway reactivity, but these studies were done in a select young, healthy, symptomless population. In the present study respiratory symptoms were examined in 315 unselected parents of children with cystic fibrosis and 162 parents of children with congenital heart disease (controls). The cardinal symptom of airway reactivity, wheezing, was somewhat more prevalent in cystic fibrosis parents than i...

  16. Effects of ursodeoxycholic acid treatment on nutrition and liver function in patients with cystic fibrosis and longstanding cholestasis.

    OpenAIRE

    Cotting, J; Lentze, M J; Reichen, J

    1990-01-01

    The prevalence of biliary and hepatic diseases is increasing in patients with cystic fibrosis as more of them reach adult life. There is no effective treatment or method of preventing cholestasis in cystic fibrosis, although beneficial effects have been ascribed to the tertiary bile acid, ursodeoxycholate, in other forms of chronic cholestasis. We evaluated prospectively the effects of a six month course of ursodeoxycholate (15-20 mg/kg per day) in eight, mostly adult, patients with cystic fi...

  17. Characterizing Mucous Cell Remodeling in Cystic Fibrosis: Relationship to Neutrophils

    OpenAIRE

    Hays, Steven R.; John V Fahy

    2006-01-01

    Rationale: Relatively few studies have characterized mucous cells or mucins in detail in cystic fibrosis (CF), and the relationship between mucous cell abnormalities and neutrophilic inflammation is uncertain.

  18. Genetic modifiers of nutritional status in cystic fibrosis1234

    OpenAIRE

    Bradley, Gia M; Blackman, Scott M.; Christopher P Watson; Doshi, Vishal K.; Cutting, Garry R

    2012-01-01

    Background: Improved nutrition early in life is associated with better pulmonary function for patients with cystic fibrosis (CF). However, nutritional status is poorly correlated with the CFTR genotype.

  19. Lack of correlation between pulmonary disease and cystic fibrosis transmembrane conductance regulator dysfunction in cystic fibrosis: a case report

    OpenAIRE

    Cleveland Robert H; García Christopher; Asher Daniel; Cannon Carolynn L; Levy Hara; Pier Gerald B; Knowles Michael R; Colin Andrew A

    2010-01-01

    Abstract Introduction Mutations in both alleles of the cystic fibrosis transmembrane conductance regulator gene result in the disease cystic fibrosis, which usually manifests as chronic sinopulmonary disease, pancreatic insufficiency, elevated sodium chloride loss in sweat, infertility among men due to agenesis of the vas deferens and other symptoms including liver disease. Case presentation We describe a pair of African-American brothers, aged 21 and 27, with cystic fibrosis. They were homoz...

  20. Lack of correlation between pulmonary disease and cystic fibrosis transmembrane conductance regulator dysfunction in cystic fibrosis: a case report

    Directory of Open Access Journals (Sweden)

    Cleveland Robert H

    2010-04-01

    Full Text Available Abstract Introduction Mutations in both alleles of the cystic fibrosis transmembrane conductance regulator gene result in the disease cystic fibrosis, which usually manifests as chronic sinopulmonary disease, pancreatic insufficiency, elevated sodium chloride loss in sweat, infertility among men due to agenesis of the vas deferens and other symptoms including liver disease. Case presentation We describe a pair of African-American brothers, aged 21 and 27, with cystic fibrosis. They were homozygous for a rare frameshift mutation in the cystic fibrosis transmembrane conductance regulator 3791delC, which would be expected to cause significant morbidity. Although 80% of cystic fibrosis patients are colonized with Pseudomonas aeruginosa by eight years of age, the older brother had no serum opsonic antibody titer to P. aeruginosa by age 13 and therefore would have failed to mount an effective antibody response to the alginate (mucoid polysaccharide capsule of P. aeruginosa. He was not colonized with P. aeruginosa until 24 years of age. Similarly, the younger brother was not colonized with P. aeruginosa until age 20 and had no significant lung disease. Conclusion Despite a prevailing idea in cystic fibrosis research that the amount of functional cystic fibrosis transmembrane conductance regulator predicts clinical status, our results indicated that respiratory disease severity in cystic fibrosis exhibits phenotypic heterogeneity. If this heterogeneity is, in part, genetic, it is most likely derived from genes outside the cystic fibrosis transmembrane conductance regulator locus.

  1. Co-morbidity of cystic fibrosis and celiac disease in Scandinavian cystic fibrosis patients

    DEFF Research Database (Denmark)

    Fluge, Gjermund; Olesen, Hanne Vebert; Giljam, Marita;

    2009-01-01

    Background: The co-morbidity of cystic fibrosis (CF) and celiac disease (CD) has been reported sporadically since the 1960s. To our knowledge, this is the first time a systematic screening is performed in a large cohort of CF patients. Methods: Transglutaminase-IgA (TGA), endomysium-IgA (EMA) and...

  2. Co-morbidity of cystic fibrosis and celiac disease in Scandinavian cystic fibrosis patients

    DEFF Research Database (Denmark)

    Fluge, G; Olesen, H V; Gilljam, M;

    2009-01-01

    BACKGROUND: The co-morbidity of cystic fibrosis (CF) and celiac disease (CD) has been reported sporadically since the 1960s. To our knowledge, this is the first time a systematic screening is performed in a large cohort of CF patients. METHODS: Transglutaminase-IgA (TGA), endomysium-IgA (EMA) and...

  3. Typing of Pseudomonas aeruginosa strains in Norwegian cystic fibrosis patients

    DEFF Research Database (Denmark)

    Fluge, G; Ojeniyi, B; Høiby, N;

    2001-01-01

    OBJECTIVES: Typing of Pseudomonas aeruginosa isolates from Norwegian cystic fibrosis (CF) patients with chronic Pseudomonas lung infection in order to see whether cross-infection might have occurred. METHODS: Isolates from 60 patients were collected during the years 1994-98, and typed by pulsed...... between cystic fibrosis patients has occurred....

  4. LUNG TRANSPLANTATION IN PATIENTS WITH CYSTIC-FIBROSIS

    NARCIS (Netherlands)

    MANNES, GPM; VANDERBIJ, W

    1995-01-01

    Worldwide more than 600 heart-lung or lung transplantations have been performed in patients with cystic fibrosis and end-stage respiratory disease. At the University Hospital in Groningen 10 patients with cystic fibrosis underwent bilateral sequential lung transplantation until April 1994. The 1-yea

  5. Infectious and nutritional mechanisms in children with cystic fibrosis

    OpenAIRE

    Diaconu Ramona; Bozomitu Laura; Anton Emil; Popovici Paula; Anton Carmen; Timofte Daniel; Alin Ciobica; Moraru Evelina

    2015-01-01

    Cystic fibrosis is a polymorphic disease characterized by severe genetic dysfunctions. Besides the complex genetic background, most patients with cystic fibrosis also have increased susceptibility to infections and and their nutritional status is affected. Chronic pulmonary infection and gastrointestinal or nutritional abnormalities are characteristics of this disorder. Of our selected 56 subjects, 21.28% presented a pulmonary condition, and 28.57% digestiv...

  6. New insights into pulmonary inflammation in cystic fibrosis

    OpenAIRE

    Rao, S; Grigg, J

    2006-01-01

    Persistent lower airway infection with inflammation is the major cause of morbidity and mortality in cystic fibrosis. This review examines the recent advances in the understanding of airway inflammation in cystic fibrosis, and focuses on the evidence that pulmonary inflammation is, under some circumstances, disassociated from infection, and the potential implications for therapeutic intervention.

  7. Microbiological surveillance in patients with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Paola Gualdi

    2010-06-01

    Full Text Available Pulmonary infections in patients with cystic fibrosis (CF, are a major cause of morbidity and mortality. Prevention, diagnosis and therapy in cystic fibrosis, lead to the necessary collaboration between clinical and laboratory to identify effective strategies and appropriate solutions to address the problems inherent isolation micro-organisms, antibiotic strategies, overcoming of bacterial resistance and other problems management of these patients. The task of the microbiology laboratory and research in quickly and accurately, the agents responsible for these infectious processes, in order to isolate them from material, identify and determine their sensitivity antibiotics. A microbiological surveillance on 34 patients (13 males and 21 females with CF and related to the “Support Services Provincial Trento for the treatment of cystic fibrosis “in the period July 2005 - August 2008, was carried out. 180 Gram positive and 278 of Gram negative bacteria as well as 235 fungi wre collected. Staphylococcus aureus was the most frequently organism found in patients with CF with an incidence of 23% on 156 strains isolated, Pseudomonas aeruginosa was collected 19% of all microorganisms isolated corresponding to 131 strains, Candida albicans is the yeast often isolated with a frequency 22% equal to 149 isolates, Aspergillus fumigatus was isolated at a rate of 8%. From the data we collected and processed has been noted that the local epidemiology of CF patients reflects as reported in the scientific literature and national international consulting, both as a type microorganisms that frequency also isolated compared to age groups. Considering the score of Bartlett as discriminating respiratory fitness of the material, it has been observed that only 32 samples over 327 total (10% would materials insignificant. It follows therefore that the time of sample collection, followed by personnel (physiotherapists dedicated to CF patients, represents a crucial step

  8. The distinctly visible right upper lobe bronchus on the lateral chest: A clue to adolescent cystic fibrosis

    International Nuclear Information System (INIS)

    Radiographic differentiation between cystic fibrosis and asthma presenting in teenagers and young adults can be difficult. Many patients with a late presentation of cystic fibrosis display minimal changes on a chest radiograph. However, a large majority (90%) of cystic fibrosis patients with an essentially normal PA chest radiograph will have a distinctly outlined orifice of right upper lobe bronchus on a lateral chest film as opposed to a small number of asthmatics (25%) or normal patients (18%). This observation correlates well with the pathologic finding that the initial pulmonary involvement in cystic fibrosis is typically in the right upper lobe in adolescents. Teenager or young adult patients presenting with a history of repeated respiratory infections, asthma-like symptoms and a distinctly visible right upper lobe bronchus on a lateral chest film should be sweat-tested to exclude cystic fibrosis. (orig.)

  9. Nutrition and Growth in Cystic Fibrosis.

    Science.gov (United States)

    Lusman, Sarah; Sullivan, Jillian

    2016-08-01

    Close attention to nutrition and growth is essential in caring for children with cystic fibrosis (CF). Growth and nutritional status should be monitored as part of routine CF care. Children with CF should achieve growth and nutritional status comparable with that of well-nourished children without CF. Children with CF are at risk for nutritional deficiencies. Optimal nutritional and growth status may be difficult to attain in this population given risk of insufficient caloric intake and likelihood of increased caloric expenditure. Various methods to attain optimal nutritional status may be used, including oral supplementation, behavioral treatment, pharmacotherapy, and enteral nutrition. PMID:27469181

  10. Nontuberculous Mycobacterial Infections in Cystic Fibrosis.

    Science.gov (United States)

    Martiniano, Stacey L; Nick, Jerry A; Daley, Charles L

    2016-03-01

    Nontuberculous mycobacteria (NTM) are important emerging cystic fibrosis (CF) pathogens, with estimates of prevalence ranging from 6% to 13%. Diagnosis of NTM disease in patients with CF is challenging, as the infection may remain indolent in some, without evidence of clinical consequence, whereas other patients suffer significant morbidity and mortality. Treatment requires prolonged periods of multiple drugs and varies depending on NTM species, resistance pattern, and extent of disease. The development of a disease-specific approach to the diagnosis and treatment of NTM infection in CF patients is a research priority, as a lifelong strategy is needed for this high-risk population. PMID:26857770

  11. Cystic Fibrosis: Microbiology and Host Response.

    Science.gov (United States)

    Zemanick, Edith T; Hoffman, Lucas R

    2016-08-01

    The earliest descriptions of lung disease in people with cystic fibrosis (CF) showed the involvement of 3 interacting pathophysiologic elements in CF airways: mucus obstruction, inflammation, and infection. Over the past 7 decades, our understanding of CF respiratory microbiology and inflammation has evolved with the introduction of new treatments, increased longevity, and increasingly sophisticated laboratory techniques. This article reviews the current understanding of infection and inflammation and their roles in CF lung disease. It also discusses how this constantly evolving information is used to inform current therapeutic strategies, measures and predictors of disease severity, and research priorities. PMID:27469179

  12. Targeting the Root Cause of Cystic Fibrosis.

    Science.gov (United States)

    Trescott, Laura; Holcomb, Joshua; Spellmon, Nicholas; Mcleod, Cathy; Aljehane, Leala; Sun, Fei; Li, Chunying; Yang, Zhe

    2015-01-01

    Cystic Fibrosis (CF) is a serious genetic condition caused by CF transmembrane conductance regulator (CFTR) mutation. CF patients have shortened lifespan due to airway obstruction, infection, and end-stage lung failure. However, recent development in CF therapy suggests a brighter future for CF patients. Targeting specific CFTR mutations aims to potentiate the channel gating activity of impaired CFTR and restore protein trafficking to the plasma membrane. Gene therapy introduces correct CFTR gene into the affected airway epithelium leading to the functional expression of CFTR in CF patients. This review will sum up the current status in CF-cause targeting therapy. PMID:25316272

  13. Vitamin D Deficiency in Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    William B. Hall

    2010-01-01

    Full Text Available Cystic Fibrosis is the most common inherited genetic respiratory disorder in the Western World. Hypovitaminosis D is almost universal in CF patients, likely due to a combination of inadequate absorption, impaired metabolism, and lack of sun exposure. Inadequate levels are associated with the high prevalence of bone disease or osteoporosis in CF patients, which is associated with increased morbidity including fractures, kyphosis, and worsening pulmonary status. Treatment goals include regular monitoring 25 hydroxyvitamin D (25OHD levels with aggressive treatment for those with levels <75 nmol/L (<30 ng/mL. More research is needed to determine optimal supplementation goals and strategies.

  14. Vaccines for preventing infection with Pseudomonas aeruginosa in cystic fibrosis

    DEFF Research Database (Denmark)

    Johansen, H.K.; Gøtzsche, Peter C.; Johansen, Helle Krogh

    2008-01-01

    BACKGROUND: Chronic pulmonary infection in cystic fibrosis results in progressive lung damage. Once colonisation of the lungs with Pseudomonas aeruginosa occurs, it is almost impossible to eradicate. Vaccines, aimed at reducing infection with Pseudomonas aeruginosa, have been developed. OBJECTIVES......: To assess the effectiveness of vaccination against Pseudomonas aeruginosa in cystic fibrosis. SEARCH STRATEGY: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register using the terms vaccines AND pseudomonas (last search May 2008) and PubMed using the terms vaccin* AND...... cystic fibrosis (last search May 2008). SELECTION CRITERIA: Randomised trials (published or unpublished) comparing Pseudomonas aeruginosa vaccines (oral, parenteral or intranasal) with control vaccines or no intervention in cystic fibrosis. DATA COLLECTION AND ANALYSIS: The authors independently selected...

  15. Cystic fibrosis in adults. Short-term and long-term reproducibility of the Brody score for lung morphology in low-dose MDCT scans

    Energy Technology Data Exchange (ETDEWEB)

    Weber, K.; Paolini, M.; Schmitz, M.; Coppenrath, E.; Reiser, M.; Mueller-Lisse, U.G. [Ludwig-Maximilians-Univ. Muenchen (Germany). Inst. fuer Klinische Radiologie; Fischer, R.; Huber, R. [Ludwig-Maximilians-Univ. Muenchen (Germany). Medical Hospital V

    2014-01-15

    Purpose: The semi-quantitative Brody score measures the severity of cystic fibrosis (CF)-related lung disease. We investigated the short-term (28 - 60 days) and long-term (2 - 7 years) intra- and inter-observer reproducibility of the Brody score in low-dose multidetector row computed tomography examinations performed in inspiration (LDCTs) of adult CF patients. Materials and Methods: Composite Brody scores and respective underlying bronchiectasis, mucus plugging, peribronchial thickening, parenchymal opacity, and hyperinflation subscores were evaluated twice (time interval, 1 - 84 months) by each of 3 independent radiologists (1 - 20 years of professional diagnostic radiology experience) in LDCTs (4 - 64 rows, 120 KVp, 10 - 15 mAs/slice, CTDIw approx. 1.0 mGy, effective dose approx. 0.5 mSv) of 15 adult patients with CF-related lung disease (8 female, 7 male, age, 18 - 50 years, mean, 33 years). Results: The average reproducibility of the Brody score was within +/-7 % (range, 2 - 30 %) between radiologists, and +/-6 % (3 - 12 %) within radiologists (short-term, 28 - 60 days, 4 %, 0 - 12 %, long-term, 2 - 7 years, 12 %, 1 - 36 %). For the different subscores, the reproducibility was within +/-25 % (15 - 41 %) between radiologists and +/-23 % (12 - 46 %) within radiologists. Conclusion: The Brody score shows high average inter-observer reproducibility in LDCTs of adult CF patients. The Brody score also demonstrates high average intra-observer reproducibility if subsequent assessments are made within 28 - 61 days. With time intervals of 2 - 7 years between subsequent evaluations, however, intra-observer reproducibility decreases. Respective subscores each demonstrate lower intra- and inter-observer reproducibility than does the composite Brody score. (orig.)

  16. Cystic fibrosis in adults. Short-term and long-term reproducibility of the Brody score for lung morphology in low-dose MDCT scans

    International Nuclear Information System (INIS)

    Purpose: The semi-quantitative Brody score measures the severity of cystic fibrosis (CF)-related lung disease. We investigated the short-term (28 - 60 days) and long-term (2 - 7 years) intra- and inter-observer reproducibility of the Brody score in low-dose multidetector row computed tomography examinations performed in inspiration (LDCTs) of adult CF patients. Materials and Methods: Composite Brody scores and respective underlying bronchiectasis, mucus plugging, peribronchial thickening, parenchymal opacity, and hyperinflation subscores were evaluated twice (time interval, 1 - 84 months) by each of 3 independent radiologists (1 - 20 years of professional diagnostic radiology experience) in LDCTs (4 - 64 rows, 120 KVp, 10 - 15 mAs/slice, CTDIw approx. 1.0 mGy, effective dose approx. 0.5 mSv) of 15 adult patients with CF-related lung disease (8 female, 7 male, age, 18 - 50 years, mean, 33 years). Results: The average reproducibility of the Brody score was within +/-7 % (range, 2 - 30 %) between radiologists, and +/-6 % (3 - 12 %) within radiologists (short-term, 28 - 60 days, 4 %, 0 - 12 %, long-term, 2 - 7 years, 12 %, 1 - 36 %). For the different subscores, the reproducibility was within +/-25 % (15 - 41 %) between radiologists and +/-23 % (12 - 46 %) within radiologists. Conclusion: The Brody score shows high average inter-observer reproducibility in LDCTs of adult CF patients. The Brody score also demonstrates high average intra-observer reproducibility if subsequent assessments are made within 28 - 61 days. With time intervals of 2 - 7 years between subsequent evaluations, however, intra-observer reproducibility decreases. Respective subscores each demonstrate lower intra- and inter-observer reproducibility than does the composite Brody score. (orig.)

  17. The Impact of Pulmonary Arterial Pressure on Exercise Capacity in Mild-to-Moderate Cystic Fibrosis: A Case Control Study

    OpenAIRE

    Katerina Manika; Pitsiou, Georgia G.; Boutou, Afroditi K.; Vassilis Tsaoussis; Nikolaos Chavouzis; Marina Antoniou; Maria Fotoulaki; Ioannis Stanopoulos; Ioannis Kioumis

    2012-01-01

    Background. Pulmonary hypertension (PH) is an often complication of severe cystic fibrosis (CF); however, data on the presence and impact of pulmonary vasculopathy in adult CF patients with milder disease, is very limited. Aim. To investigate, for the first time, the impact of systolic pulmonary arterial pressure (PASP) on maximal exercise capacity in adults with mild-to-moderate cystic fibrosis, without PH at rest. Methods. This is a Case Control study. Seventeen adults with mild-to-moderate...

  18. Qulaity of Life in Cystic Fibrosis Children

    Directory of Open Access Journals (Sweden)

    Hamid-Reza Kianifar

    2013-04-01

    Full Text Available Objective: Cystic fibrosis (CF is a chronic, multisystem genetic disease with a wide variability in clinical severity. The measurement of quality of life in CF provides additional information about the impact of this disease. This article tries to assess quality of life (QoL in children and adolescents with CF and to compare it with control group.Methods: Patients 2-18 years old with admission diagnosis of cystic fibrosis entered the study. QoL was observed in CF patients and compared with control group.Findings: Based on children's reports, significant differences between the CF patients and control group were noted for emotional, physical, social, school performance, and total scores (P<0.05. Based on parents’ reports, quality of life score in CF patients from the physical point of view as well as social and total scores were decreased (P<0.05.Conclusion: QoL in CF patients seems to be low, and therapy programs should take into account the suggestive perceived quality of life.

  19. Cystic fibrosis chronic rhinosinusitis: A comprehensive review

    Science.gov (United States)

    Chaaban, Mohamad R.; Kejner, Alexandra; Rowe, Steven M.

    2013-01-01

    Background: Advances in the care of patients with cystic fibrosis (CF) have improved pulmonary outcomes and survival. In addition, rapid developments regarding the underlying genetic and molecular basis of the disease have led to numerous novel targets for treatment. However, clinical and basic scientific research focusing on therapeutic strategies for CF-associated chronic rhinosinusitis (CRS) lags behind the evidence-based approaches currently used for pulmonary disease. Methods: This review evaluates the available literature and provides an update concerning the pathophysiology, current treatment approaches, and future pharmaceutical tactics in the management of CRS in patients with CF. Results: Optimal medical and surgical strategies for CF CRS are lacking because of a dearth of well-performed clinical trials. Medical and surgical interventions are supported primarily by level 2 or 3 evidence and are aimed at improving clearance of mucus, infection, and inflammation. A number of novel therapeutics that target the basic defect in the cystic fibrosis transmembrane conductance regulator channel are currently under investigation. Ivacaftor, a corrector of the G551D mutation, was recently approved by the Food and Drug Administration. However, sinonasal outcomes using this and other novel drugs are pending. Conclusion: CRS is a lifelong disease in CF patients that can lead to substantial morbidity and decreased quality of life. A multidisciplinary approach will be necessary to develop consistent and evidence-based treatment paradigms. PMID:24119602

  20. Targeting ion channels in cystic fibrosis.

    Science.gov (United States)

    Mall, Marcus A; Galietta, Luis J V

    2015-09-01

    Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause a characteristic defect in epithelial ion transport that plays a central role in the pathogenesis of cystic fibrosis (CF). Hence, pharmacological correction of this ion transport defect by targeting of mutant CFTR, or alternative ion channels that may compensate for CFTR dysfunction, has long been considered as an attractive approach to a causal therapy of this life-limiting disease. The recent introduction of the CFTR potentiator ivacaftor into the therapy of a subgroup of patients with specific CFTR mutations was a major milestone and enormous stimulus for seeking effective ion transport modulators for all patients with CF. In this review, we discuss recent breakthroughs and setbacks with CFTR modulators designed to rescue mutant CFTR including the common mutation F508del. Further, we examine the alternative chloride channels TMEM16A and SLC26A9, as well as the epithelial sodium channel ENaC as alternative targets in CF lung disease, which remains the major cause of morbidity and mortality in patients with CF. Finally, we will focus on the hurdles that still need to be overcome to make effective ion transport modulation therapies available for all patients with CF irrespective of their CFTR genotype. PMID:26115565

  1. Cystic fibrosis, molecular genetics for all life

    Directory of Open Access Journals (Sweden)

    Ausilia Elce

    2015-10-01

    Full Text Available Cystic fibrosis (CF is the most frequent lethal autosomal recessive disorder among Caucasians (incidence: 1:2,500 newborn. In the last two decades CF prognosis considerably improved and many patients well survive into their adulthood. Furthermore, milder CF with a late onset was described. CF is a challenge for laboratory of molecular genetics that greatly contributes to the natural history of the disease since fetal age. Carrier screening and prenatal diagnosis, also by non-invasive analysis of maternal blood fetal DNA, are now available, and many labs offer preimplantation diagnosis. The major criticism in prenatal medicine is the lack of an effective multidisciplinary counseling that helps the couples to plan their reasoned reproductive choice. Most countries offer newborn screening that significantly reduce CF morbidity but different protocols based on blood trypsin, molecular analysis and sweat chloride cause a variable efficiency of the screening programs. Again, laboratory is crucial for CF diagnosis in symptomatic patients: sweat chloride is the diagnostic golden standard, but different methodologies and the lack of quality control in most labs reduce its effectiveness. Molecular analysis contributes to confirm diagnosis in symptomatic subjects; furthermore, it helps to predict the disease outcome on the basis of the mutation (genotype-phenotype correlation and mutations in a myriad of genes, inherited independently by CF transmembrane conductance regulator (CFTR, which may modulate the clinical expression of the disease in each single patient (modifier genes. More recently, the search of the CFTR mutations gained a role in selecting CF patients that may benefit from biological therapy based on correctors and potentiators that are effective in patients bearing specific mutations (personalized therapy. All such applications of molecular diagnostics confirm the “uniqueness” of each CF patient, offering to laboratory medicine the

  2. Intestinal permeability to [51Cr]EDTA in children with cystic fibrosis

    International Nuclear Information System (INIS)

    Intestinal permeability was investigated in 14 children with cystic fibrosis making use of [51Cr]EDTA as probe molecule. Ten normal young adults and 11 children served as controls. After oral administration of [51Cr]EDTA, 24 h urine was collected. Urinary radioactivity was calculated and results expressed as percentage of oral dose excreted in 24 h urine. Mean and SEM were as follows: 2.51 +/- 0.21, 2.35 +/- 0.24, and 13.19 +/- 1.72 for control children, normal adults, and cystic fibrosis patients, respectively. The permeability differences between cystic fibrosis patients and either control children or control adults are significant (p less than 0.001)

  3. Cystic fibrosis with normal sweat chloride concentration: case report

    Directory of Open Access Journals (Sweden)

    Silva Filho Luiz Vicente Ferreira da

    2003-01-01

    Full Text Available Cystic fibrosis is a genetic disease usually diagnosed by abnormal sweat testing. We report a case of an 18-year-old female with bronchiectasis, chronic P. aeruginosa infection, and normal sweat chloride concentrations who experienced rapid decrease of lung function and clinical deterioration despite treatment. Given the high suspicion ofcystic fibrosis, broad genotyping testing was performed, showing a compound heterozygous with deltaF508 and 3849+10kb C->T mutations, therefore confirming cystic fibrosis diagnosis. Although the sweat chloride test remains the gold standard for the diagnosis of cystic fibrosis, alternative diagnostic tests such as genotyping and electrophysiologic measurements must be performed if there is suspicion of cystic fibrosis, despite normal or borderline sweat chloride levels.

  4. Quantitative immunoassays for diagnosis and carrier detection in cystic fibrosis

    International Nuclear Information System (INIS)

    Quantitative immunoprecipitation and immunoradiometric assays have been developed for a protein present in the serum of cystic fibrosis homozygotes, and to a lesser extent in the serum of heterozygotes. When tested on a panel of sera from 14 cystic fibrosis patients, 29 heterozygotes and 23 controls, the immunoprecipitation assay allowed correct assignments to be made on 94% of occasions with one batch of antiserum and 95% with another. With the same panel of sera, the immunoradiometric assay allowed 94% correct assignments. It is suggested that such accuracy is the maximum that can be expected in the present state of knowledge of cystic fibrosis. (author)

  5. Diabetes mellitus in childhood cystic fibrosis.

    LENUS (Irish Health Repository)

    Rauf, F

    2012-02-03

    Since 1984, five patients in the cystic fibrosis (CF) clinic at Cork Regional Hospital have developed diabetes mellitus (DM) and were treated with Insulin. None had received systemic corticosteroids but two had high calorie naso-gastric feeding regimes. Two died from lung disease. A fifteen year old boy developed bilateral cataracts. In nine other paediatric CF clinics in the Republic of Ireland (total: 420 patients), three patients have DM, two receiving Insulin. Abnormal glucose tolerance is becoming more common in CF as patients survive longer. The possible role of corticosteroid treatment and intensive carbohydrate feeding regimes in development of glucose intolerance must be considered. DM in CF differs from the usual childhood DM. Regular screening and early Insulin supplementation may be beneficial.

  6. Psychosocial problems in children with cystic fibrosis

    DEFF Research Database (Denmark)

    Bregnballe, V; Thastum, M; Schiøtz, P O

    2007-01-01

    AIM: To compare the well-being of children (7-14 years) with cystic fibrosis (CF) (n = 43) with the well-being of healthy controls (n = 1121). METHODS: The self-report questionnaire Beck Youth Inventories (BYI) was used to study depression, anxiety, anger, disruptive behaviour and self-concept in...... children with CF. A measure of social desirability was included as well as body mass index (BMI) and percentage of predicted forced expiratory volume in one second (FEV(1)) as measures of health status. RESULTS: The children with CF did not differ from the norm group concerning depression, disruptive...... behaviour and self-concept. Young children with CF (7-10 years) and boys with CF scored significantly higher on anxiety. Girls with CF scored significantly lower on anger than controls. BMI was not associated with any of the BYI subscales. In patients aged 11-14 years, there was a significant correlation...

  7. Paediatric nasal polyps in cystic fibrosis.

    Science.gov (United States)

    Mohd Slim, Mohd Afiq; Dick, David; Trimble, Keith; McKee, Gary

    2016-01-01

    Patients with cystic fibrosis (CF) are at increased risk of nasal polyps. We present the case of a 17-month-old Caucasian patient with CF who presented with hypertelorism causing cycloplegic astigmatism, right-sided mucoid discharge, snoring and noisy breathing. Imaging suggested bilateral mucoceles in the ethmoid sinuses. Intraoperatively, bilateral soft tissue masses were noted, and both posterior choanae were patent. Polypectomy and bilateral mega-antrostomies were performed. Histological examination revealed inflammatory nasal polyposis typical of CF. The role of early functional endoscopic sinus surgery (FESS) in children with CF nasal polyposis remains questionable as the recurrence rate is higher, and no improvement in pulmonary function has been shown. Our case, however, clearly demonstrates the beneficial upper airway symptom relief and normalisation of facial appearance following FESS in a child with this condition. PMID:27329094

  8. Scoliosis in cystic fibrosis - an appraisal

    International Nuclear Information System (INIS)

    An unusually high prevalence (10%) of scoliosis is described in a series of 151 patients aged four years and older with cystic fibrosis. The scolioses were of the late onset (juvenile and adolescent) type, being typically thoracic with the curve convex to the right, although there was no significant preference for either sex. No direct relationship was found between the spinal curvature and the severity or distribution of the lung disease, although the worse scolioses tended to occur in patients with relatively severe pulmonary involvement. There was no evidence of metabolic bone disease as a predisposing cause. Some indication of a familial tendency towards scoliosis was apparent, and a genetic or constitutional basis is postulated with an unknown precipitating factor. (orig.)

  9. Chronic Rhinosinusitis in Patients with Cystic Fibrosis.

    Science.gov (United States)

    Hamilos, Daniel L

    2016-01-01

    Chronic rhinosinusitis (CRS) is highly prevalent in patients with cystic fibrosis (CF) and accounts for significant morbidity and contribution to CF lung disease. Mutations of the cystic fibrosis transmembrane regulator gene occur with increased prevalence in patients with CRS without CF, suggesting some contribution to CRS pathophysiology. Nasal polyps (NPs) occur with increased prevalence in patients with CF of all ages and have a more neutrophilic appearance with fewer eosinophils and increased submucosal glandular elements in comparison to NPs from patients without CF. Mainstays of medical treatment include isotonic saline irrigations and topical intranasal glucocorticoids, with some evidence that topical intranasal glucocorticoids reduce NP size. Although inhaled hypertonic saline (7%) has been widely studied as a mucolytic agent for CF lung disease, there are no reports of its use in CF CRS. Mucolytics have also not been studied as a treatment for CRS in CF, and most evidence does not support their use for CF lung disease. Nasally nebulized dornase alfa (recombinant human deoxyribonuclease) following sinus surgery shows promise for treatment. Other unproven therapies include addition of baby shampoo to isotonic saline to potentially thin mucus and help prevent biofilm formation. There are no data to support the use of low-dose oral macrolide antibiotics or the use of prophylactic oral antibiotics for CRS in patients with CF. However, there is some support for the use of topical antibiotics, including colistimethate sodium or tobramycin, administered as a sinus irrigation or antral lavage in patients following sinus surgery when susceptible bacteria are cultured. Key components of CF sinus surgical management include extensive surgery to ensure that the maxillary, frontal, sphenoid, and ethmoid sinuses are all widely opened with smoothing of bony overhangs to prevent mucus retention and bacterial recolonization, postoperative meticulous daily nasal irrigations

  10. Population pharmacokinetics of tobramycin administered thrice daily and once daily in children and adults with cystic fibrosis

    NARCIS (Netherlands)

    Touw, D J; Knox, A J; Smyth, A

    2007-01-01

    BACKGROUND: Tobramycin pharmacokinetics have not been evaluated previously in a large series of data collected in children and adults with CF receiving once (OD) or three times daily (TD) tobramycin. METHODS: Therapeutic drug monitoring data in children and adults with CF who participated in a rando

  11. Transient in utero disruption of Cystic Fibrosis Transmembrane Conductance Regulator causes phenotypic changes in Alveolar Type II cells in adult rats

    Directory of Open Access Journals (Sweden)

    Larson Janet E

    2009-03-01

    Full Text Available Abstract Background Mechanicosensory mechanisms regulate cell differentiation during lung organogenesis. We have previously demonstrated that cystic fibrosis transmembrane conductance regulator (CFTR was integral to stretch-induced growth and development and that transient expression of antisense-CFTR (ASCFTR had negative effects on lung structure and function. In this study, we examined adult alveolar type II (ATII cell phenotype after transient knock down of CFTR by adenovirus-directed in utero expression of ASCFTR in the fetal lung. Results In comparison to (reporter gene-treated Controls, ASCFTR-treated adult rat lungs showed elevated phosphatidylcholine (PC levels in the large but not in the small aggregates of alveolar surfactant. The lung mRNA levels for SP-A and SP-B were lower in the ASCFTR rats. The basal PC secretion in ATII cells was similar in the two groups. However, compared to Control ATII cells, the cells in ASCFTR group showed higher PC secretion with ATP or phorbol myristate acetate. The cell PC pool was also larger in the ASCFTR group. Thus, the increased surfactant secretion in ATII cells could cause higher PC levels in large aggregates of surfactant. In freshly isolated ATII cells, the expression of surfactant proteins was unchanged, suggesting that the lungs of ASCFTR rats contained fewer ATII cells. Gene array analysis of RNA of freshly isolated ATII cells from these lungs showed altered expression of several genes including elevated expression of two calcium-related genes, Ca2+-ATPase and calcium-calmodulin kinase kinase1 (CaMkk1, which was confirmed by real-time PCR. Western blot analysis showed increased expression of calmodulin kinase I, which is activated following phosphorylation by CaMkk1. Although increased expression of calcium regulating genes would argue in favor of Ca2+-dependent mechanisms increasing surfactant secretion, we cannot exclude contribution of alternate mechanisms because of other phenotypic

  12. AEROSOL DEPOSITION AS A FUNCTION OF AIRWAY DISEASE: CYSTIC FIBROSIS

    Science.gov (United States)

    Progressive lung disease associated with cystic fibrosis (CF) is a continuous interaction of the processes of airway obstruction, infection and inflammation. ecent literature has suggested that the manifestation of CF could compromise the successful administration of pharmacologi...

  13. Immunisation in the current management of cystic fibrosis patients

    DEFF Research Database (Denmark)

    Malfroot, Anne; Adam, Georgios; Ciofu, Oana;

    2005-01-01

    Although no special recommendations exist, clearly patients with cystic fibrosis (CF) can benefit from immunisation. We reviewed the literature regarding vaccination in CF and other chronic diseases. CF subjects should follow national immunisation programmes without delay to obtain optimal...

  14. Modular microfluidic system as a model of cystic fibrosis airways

    DEFF Research Database (Denmark)

    Skolimowski, Maciej; Weiss Nielsen, Martin; Abeille, Fabien;

    2012-01-01

    pumps, bubble traps, gas exchange chip, and cell culture chambers. We have successfully applied this system for studying the antibiotic therapy of Pseudomonas aeruginosa, the bacteria mainly responsible for morbidity and mortality in cystic fibrosis, in different oxygen environments. Furthermore, we...... have mimicked the bacterial reinoculation of the aerobic compartments (lower respiratory tract) from the anaerobic compartments (cystic fibrosis sinuses) following an antibiotic treatment. This effect is hypothesised as the one on the main reasons for recurrent lung infections in cystic fibrosis......A modular microfluidic airways model system that can simulate the changes in oxygen tension in different compartments of the cystic fibrosis (CF) airways was designed, developed, and tested. The fully reconfigurable system composed of modules with different functionalities: multichannel peristaltic...

  15. Changes in Cystic Fibrosis Airway Microbiota at Pulmonary Exacerbation

    OpenAIRE

    Carmody, Lisa A.; Zhao, Jiangchao; Schloss, Patrick D.; Petrosino, Joseph F; Murray, Susan; Young, Vincent B.; Li, Jun Z.; LiPuma, John J.

    2013-01-01

    Rationale: In persons with cystic fibrosis (CF), repeated exacerbations of pulmonary symptoms are associated with a progressive decline in lung function. Changes in the airway microbiota around the time of exacerbations are not well understood.

  16. Cystic fibrosis in a retro-positive child

    OpenAIRE

    Praveen Sharma; N Arthi; Sagar Bhattad; Kim Vaiphei

    2015-01-01

    We present a rare association of cystic fibrosis and retro positivity in a grossly malnutrited child. The child had pulmonary, pancreatic and colonic manifestations with superadded herpes simplex virus interstitial pneumonia and lymphocytic meningitis.

  17. Sarcoidosis in two patients with cystic fibrosis: a fortuitous association?

    OpenAIRE

    Cooper, T J; Day, A. J.; Weller, P H; Geddes, D. M.

    1987-01-01

    Two cases of cystic fibrosis complicated by sarcoidosis are described. Possible pathogenetic interactions between the two diseases are discussed. The diagnosis of sarcoidosis in patients with chronic pulmonary inflammation is difficult, and if overlooked may lead to inappropriate treatment.

  18. Association between Pulmonary Function and Sputum Biomarkers in Cystic Fibrosis

    OpenAIRE

    Mayer-Hamblett, Nicole; Aitken, Moira L.; Accurso, Frank J.; Kronmal, Richard A.; Konstan, Michael W.; Burns, Jane L.; Sagel, Scott D.; Ramsey, Bonnie W.

    2007-01-01

    Rationale: Sputum biomarkers of infection and inflammation are noninvasive measures that enable quantification of the complex pathophysiology of cystic fibrosis (CF) lung disease. Validation of these biomarkers as correlates of disease severity is a key step for their application.

  19. Adeno-associated virus for cystic fibrosis gene therapy

    Directory of Open Access Journals (Sweden)

    S.V. Martini

    2011-11-01

    Full Text Available Gene therapy is an alternative treatment for genetic lung disease, especially monogenic disorders such as cystic fibrosis. Cystic fibrosis is a severe autosomal recessive disease affecting one in 2500 live births in the white population, caused by mutation of the cystic fibrosis transmembrane conductance regulator (CFTR. The disease is classically characterized by pancreatic enzyme insufficiency, an increased concentration of chloride in sweat, and varying severity of chronic obstructive lung disease. Currently, the greatest challenge for gene therapy is finding an ideal vector to deliver the transgene (CFTR to the affected organ (lung. Adeno-associated virus is the most promising viral vector system for the treatment of respiratory disease because it has natural tropism for airway epithelial cells and does not cause any human disease. This review focuses on the basic properties of adeno-associated virus and its use as a vector for cystic fibrosis gene therapy.

  20. Hydrator Therapies for Chronic Bronchitis. Lessons from Cystic Fibrosis.

    Science.gov (United States)

    Bennett, William D; Henderson, Ashley G; Donaldson, Scott H

    2016-04-01

    Patients with the chronic bronchitis form of chronic obstructive pulmonary disease and cystic fibrosis share similar clinical features, including mucus obstruction of airways and the development of chronic/recurrent airways infections that often manifest as disease exacerbations. There is growing evidence that these diseases may have parallels in disease pathogenesis as well, including cystic fibrosis transmembrane conductance regulator dysfunction, mucus dehydration, and defective mucociliary clearance. As progress is made in the development of therapies that target the basic defects that lead to cystic fibrosis lung disease, it is possible that similar approaches could also benefit patients with chronic bronchitis. A deeper understanding of how tobacco smoke and other triggers of chronic bronchitis actually lead to disease, and exploration of the concept that therapies that restore cystic fibrosis transmembrane conductance regulator function, mucus hydration, and/or mucociliary clearance may benefit patients with chronic bronchitis, hold the prospect of significant progress in treating this prevalent disease. PMID:27115955

  1. Abdominal manifestations of cystic fibrosis in children

    International Nuclear Information System (INIS)

    Pulmonary complications remain the main cause of mortality in cystic fibrosis, but the presenting symptoms in children are often related to gastrointestinal or pancreaticobiliary disease. Furthermore, abdominal manifestations are now seen throughout childhood, from infancy to adolescence. The child might present in the neonatal period with meconium ileus or its attendant complications. The older child might present with distal intestinal obstruction syndrome or colonic stricture secondary to high doses of pancreatic enzyme replacement. Less-common gastrointestinal manifestations include intussusception, duodenitis and fecal impaction of the appendix. Most children also show evidence of exocrine pancreatic deficiency. Radiologically, the combination of fat deposition and pancreatic fibrosis leads to varying CT and MR appearances. A higher than normal incidence of pancreatic cysts and calcification is also seen. Decreased transport of water and chloride also increases the viscosity of bile, with subsequent obstruction of the biliary ductules. If extensive, this can progress to obstructive cirrhosis, portal hypertension and esophageal varices. Diffuse fatty infiltration, hypersplenism and gallstones are also commonly seen in these patients. We present a pictorial review of the radiological appearance of these abdominal manifestations. The conditions are dealt with individually, together with typical appearances in various imaging modalities. (orig.)

  2. Abdominal manifestations of cystic fibrosis in children

    Energy Technology Data Exchange (ETDEWEB)

    Chaudry, Gulraiz; Navarro, Oscar M.; Levine, Daniel S.; Oudjhane, Kamaldine [University of Toronto, Department of Diagnostic Imaging, Hospital for Sick Children, Toronto, ON (Canada)

    2006-03-15

    Pulmonary complications remain the main cause of mortality in cystic fibrosis, but the presenting symptoms in children are often related to gastrointestinal or pancreaticobiliary disease. Furthermore, abdominal manifestations are now seen throughout childhood, from infancy to adolescence. The child might present in the neonatal period with meconium ileus or its attendant complications. The older child might present with distal intestinal obstruction syndrome or colonic stricture secondary to high doses of pancreatic enzyme replacement. Less-common gastrointestinal manifestations include intussusception, duodenitis and fecal impaction of the appendix. Most children also show evidence of exocrine pancreatic deficiency. Radiologically, the combination of fat deposition and pancreatic fibrosis leads to varying CT and MR appearances. A higher than normal incidence of pancreatic cysts and calcification is also seen. Decreased transport of water and chloride also increases the viscosity of bile, with subsequent obstruction of the biliary ductules. If extensive, this can progress to obstructive cirrhosis, portal hypertension and esophageal varices. Diffuse fatty infiltration, hypersplenism and gallstones are also commonly seen in these patients. We present a pictorial review of the radiological appearance of these abdominal manifestations. The conditions are dealt with individually, together with typical appearances in various imaging modalities. (orig.)

  3. Natural Compounds as Therapeutic Agents in the Treatment Cystic Fibrosis

    OpenAIRE

    Dey, Isha; Shah, Kalpit; Bradbury, Neil A.

    2016-01-01

    The recent FDA approval of two drugs to treat the basic defect in cystic fibrosis has given hope to patients and their families battling this devastating disease. Over many years, with heavy financial investment from Vertex Pharmaceuticals and the Cystic Fibrosis Foundation, pre-clinical evaluation of thousands of synthetic drugs resulted in the production of Kalydeco and Orkambi. Yet, despite the success of this endeavor, many other compounds have been proposed as therapeutic agents in the t...

  4. Vaccines for preventing infection with Pseudomonas aeruginosa in cystic fibrosis

    DEFF Research Database (Denmark)

    Johansen, Helle Krogh; Gøtzsche, Peter C

    2013-01-01

    Chronic pulmonary infection in cystic fibrosis results in progressive lung damage. Once colonisation of the lungs with Pseudomonas aeruginosa occurs, it is almost impossible to eradicate. Vaccines, aimed at reducing infection with Pseudomonas aeruginosa, have been developed.......Chronic pulmonary infection in cystic fibrosis results in progressive lung damage. Once colonisation of the lungs with Pseudomonas aeruginosa occurs, it is almost impossible to eradicate. Vaccines, aimed at reducing infection with Pseudomonas aeruginosa, have been developed....

  5. Phenotypes selected during chronic lung infection in cystic fibrosis patients

    DEFF Research Database (Denmark)

    Ciofu, Oana; Mandsberg, Lotte F; Wang, Hengzhuang;

    2012-01-01

    During chronic lung infection of patients with cystic fibrosis, Pseudomonas aeruginosa can survive for long periods of time under the challenging selective pressure imposed by the immune system and antibiotic treatment as a result of its biofilm mode of growth and adaptive evolution mediated by...... importance of biofilm prevention strategies by early aggressive antibiotic prophylaxis or therapy before phenotypic diversification during chronic lung infection of patients with cystic fibrosis....

  6. [Isolation of Geosmithia argillacea in a cystic fibrosis patient].

    Science.gov (United States)

    Labbé, F; Babchia, S; Evreux, F; Chenal, P

    2013-09-01

    We report the case of an 11-year-old child with cystic fibrosis where Geosmithia argillacea has been isolated from sputum. This is a filamentous fungus (mold) recently described as emergent infectious agent in cystic fibrosis patients. In our case, the presence of G. argillacea was not associated with clinical disorder. However, recent evidence shows that it can be responsible for very serious invasive infection, especially in chronic granulomatous disease and may be, after lung transplantation. PMID:23856446

  7. Fluoroquinolones in the treatment of bronchopulmonary disease in cystic fibrosis

    OpenAIRE

    2012-01-01

    Fluoroquinolones are commonly used to treat lung infections in those with cystic fibrosis. Patients with cystic fibrosis are susceptible to lung infection with common bacteria such as Staphylococcus aureus and Haemophilus influenzae, but also are prone to infection by opportunistic bacteria, including Pseudomonas aeruginosa. The good oral bioavailability and broad antimicrobial spectrum of activity, including anti-pseudomonal properties make this class of antimicrobial attractive. We review t...

  8. Assessment of hyperinflation in children with cystic fibrosis.

    OpenAIRE

    Marchant, J; Hansell, D M; Bush, A

    1994-01-01

    BACKGROUND--Radiological estimates of hyperinflation are used in several clinical and radiographic scoring systems for cystic fibrosis, but it is not known if these estimates of hyperinflation are related to measured total lung capacity. METHODS--Comparison was made of independent clinical estimates of hyperinflation from chest radiographs with objective plethysmographic and radiographic measurements of total lung capacity in 25 children with cystic fibrosis. RESULTS--There was good agreement...

  9. Allergic bronchopulmonary aspergillosis complicating cystic fibrosis in childhood.

    OpenAIRE

    Brueton, M. J.; Ormerod, L P; Shah, K J; Anderson, C. M.

    1980-01-01

    Allergic bronchopulmonary aspergillosis, known to be associated with cystic fibrosis in older patients, occurred in 7 young atopic children with cystic fibrosis. The diagnosis was suggested by the onset of, or the increase in, asthmatic symptoms accompanied by major chest x-ray changes ranging from total collapse of a lung or lobe to extensive but changing areas of consolidation. Each of the children had a blood eosinophilia, positive type I skin tests to Aspergillus fumigatus, and reversible...

  10. Increased oral bioavailability of ciprofloxacin in cystic fibrosis patients.

    OpenAIRE

    Christensson, B A; Nilsson-Ehle, I; Ljungberg, B; Lindblad, A.; Malmborg, A. S.; Hjelte, L; Strandvik, B

    1992-01-01

    The altered pharmacokinetic properties of, e.g., aminoglycosides in cystic fibrosis patients have to be considered when pulmonary exacerbations are treated. Since reported data on ciprofloxacin, a fluorinated quinolone, are conflicting, we compared intravenous and oral administration in cystic fibrosis patients when treating them for mild symptoms of pulmonary infection. All of the patients were colonized with Pseudomonas species. Ciprofloxacin was administered orally (15 mg/kg of body weight...

  11. Cepacia Syndrome in a Non-Cystic Fibrosis Patient

    OpenAIRE

    Naomi Hauser; Jose Orsini

    2015-01-01

    Burkholderia (formerly Pseudomonas) cepacia complex is a known serious threat to patients with cystic fibrosis, in whom it has the potential to cause the fatal combination of necrotizing pneumonia, worsening respiratory failure, and bacteremia, known as Cepacia syndrome. The potential for this pathogen to infect non-cystic fibrosis patients is limited and its epidemiology is poorly understood. Previously reported cases of severe Burkholderia cepacia complex lung infection in immunocompetent h...

  12. Fecal isolation of Pseudomonas aeruginosa from patients with cystic fibrosis.

    OpenAIRE

    Agnarsson, U; Glass, S; Govan, J R

    1989-01-01

    Fecal isolation of Pseudomonas aeruginosa was observed in 8 of 10 patients with cystic fibrosis who at the time of sampling also exhibited colonization of the respiratory tract. In contrast, P. aeruginosa cells were isolated at low frequency (9.1%) from the stools of 44 patients with cystic fibrosis with no previous history of chronic colonization. The results of this study suggest that the gastrointestinal tract is not a significant chronic reservoir of P. aeruginosa prior to pulmonary colon...

  13. Serum antibodies to Pseudomonas aeruginosa in cystic fibrosis.

    OpenAIRE

    Brett, M M; Ghoneim, A T; Littlewood, J M

    1986-01-01

    Serum IgG antibodies to Pseudomonas aeruginosa cell surface antigens were determined by enzyme linked immunosorbent assay. Titres in patients without cystic fibrosis were low (140-235). Those in patients with cystic fibrosis who were chronically infected by P. aeruginosa were very high (1100-20,500), while patients who grew the organism intermittently had lower titres (160-4400). Longitudinal studies showed that raised titres were observed at a very early stage of infection. High titres were ...

  14. Increased PIVKA-II concentrations in patients with cystic fibrosis.

    OpenAIRE

    de Montalembert, M; Lenoir, G; Saint-Raymond, A.; Rey, J.; Lefrère, J J

    1992-01-01

    Serum vitamin K concentrations and prothrombin induced by absence of vitamin K (PIVK-II) concentrations were assayed in 43 patients with cystic fibrosis. Twenty nine showed a normal PIVKA-II and vitamin K concentrations; 14 showed an increased PIVKA-II concentration, in one of whom serum vitamin K was decreased. Although their vitamin K concentrations were normal, some patients with cystic fibrosis still had an increased PIVKA-II. There was a significant correlation between PIVKA-II concentra...

  15. Defective fluid transport by cystic fibrosis airway epithelia.

    OpenAIRE

    Smith, J.J.; Karp, P H; Welsh, M J

    1994-01-01

    Cystic fibrosis (CF) airway epithelia exhibit defective transepithelial electrolyte transport: cAMP-stimulated Cl- secretion is abolished because of the loss of apical membrane cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channels, and amiloride-sensitive Na+ absorption is increased two- to threefold because of increased amiloride-sensitive apical Na+ permeability. These abnormalities are thought to alter respiratory tract fluid, thereby contributing to airway disease, the m...

  16. Excessive faecal losses of vitamin A (retinol) in cystic fibrosis.

    OpenAIRE

    Ahmed, F; Ellis, J.; Murphy, J.; Wootton, S.; Jackson, A A

    1990-01-01

    Vitamin A (retinol) deficiency is a recognised complication of cystic fibrosis and is presumed to be a consequence of an impairment in the digestion and absorption of dietary fats. The dietary intake of fat and retinol was assessed from a seven day weighed food intake in 11 subjects with cystic fibrosis and 12 matched controls. Faecal excretion of retinol and fat were measured from three day stool collections. There was little difference between the two groups in the intake of fat or retinol ...

  17. Serum pancreatic lipase as a screening test for cystic fibrosis.

    OpenAIRE

    Adriaenssens, K; Van Riel, L

    1982-01-01

    Pancreatic lipase catalyses the hydrolysis of emulsified triglycerides to form a transparent solution of monoglycerides and fatty acids. Levels of serum pancreatic lipase were measured in neonates known to have cystic fibrosis and compared with levels in control infants. During the first weeks of life infants with cystic fibrosis had raised serum pancreatic lipase values in parallel with raised serum trypsin values. A simple and specific turbidimetric dried blood spot assay for serum pancreat...

  18. The role of hepatobiliary scintigraphy in cystic fibrosis.

    Science.gov (United States)

    O'Connor, P J; Southern, K W; Bowler, I M; Irving, H C; Robinson, P J; Littlewood, J M

    1996-02-01

    This was a prospective open study that examined the quantitative and qualitative analysis of hepatobiliary scintigraphy (DISIDA) in detecting liver involvement in cystic fibrosis (CF). Forty-four adult and pediatric patients (median age, 12.1 years; range, 1.1-36.3 years) were divided into three groups: group 1, no evidence of liver involvement (n = 8); group 2, biochemical evidence of liver involvement on two or more occasions (n = 26); and group 3, clinical evidence of liver disease (n = 10). In groups 1 and 2, the most common qualitative scintigraphic finding was focal intrahepatic retention of tracer (26/34 patients, 12 of whom had normal findings on ultrasonography). This finding corresponds to focal cholestasis and may warrant treatment with the choleretic agent ursodeoxycholic acid (UDCA). In the group 3 patients, the abnormal qualitative scintigraphic appearances (heterogeneous uptake of tracer and nodular liver outline) added little to the findings on ultrasonography; however, these patients had a prolonged mean hepatic clearance time compared with those in groups 1 and 2 (one-way ANOVA; P < .015). It is proposed that scintigraphy with DISIDA has a role in the detection of early liver involvement in cystic fibrosis. PMID:8591853

  19. Targeted therapies to improve CFTR function in cystic fibrosis.

    Science.gov (United States)

    Brodlie, Malcolm; Haq, Iram J; Roberts, Katie; Elborn, J Stuart

    2015-01-01

    Cystic fibrosis is the most common genetically determined, life-limiting disorder in populations of European ancestry. The genetic basis of cystic fibrosis is well established to be mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that codes for an apical membrane chloride channel principally expressed by epithelial cells. Conventional approaches to cystic fibrosis care involve a heavy daily burden of supportive treatments to combat lung infection, help clear airway secretions and maintain nutritional status. In 2012, a new era of precision medicine in cystic fibrosis therapeutics began with the licensing of a small molecule, ivacaftor, which successfully targets the underlying defect and improves CFTR function in a subgroup of patients in a genotype-specific manner. Here, we review the three main targeted approaches that have been adopted to improve CFTR function: potentiators, which recover the function of CFTR at the apical surface of epithelial cells that is disrupted in class III and IV genetic mutations; correctors, which improve intracellular processing of CFTR, increasing surface expression, in class II mutations; and production correctors or read-through agents, which promote transcription of CFTR in class I mutations. The further development of such approaches offers great promise for future therapeutic strategies in cystic fibrosis. PMID:26403534

  20. Exercise and quality of life in patients with cystic fibrosis: A 12-week intervention study

    DEFF Research Database (Denmark)

    Schmidt, Anne Mette; Jacobsen, Ulla; Bregnballe, Vibeke;

    2011-01-01

    It was hypothesised that increased exercise capacity is related to improved quality of life (QoL) in patients with cystic fibrosis (CF). A 12-week individually tailored unsupervised aerobic exercise programme was offered to 42 patients with CF. At the start and at the end of the exercise programme...... patients declined to be enrolled in the exercise programme but completed the Cystic Fibrosis Questionnaire for Adolescents and Adults (CFQ-R 14+). Four patients did not want to participate at all. The 14 patients completing the exercise programme had a significantly increased VO(2max), but they showed no...

  1. Mapping the EQ-5D index from the cystic fibrosis questionnaire-revised using multiple modelling approaches.

    OpenAIRE

    Acaster, S.; Pinder, B.; Mukuria, C.; Copans, A.

    2015-01-01

    BACKGROUND: This study was designed to develop a mapping algorithm to estimate EQ-5D utility values from Cystic Fibrosis Questionnaire-Revised (CFQ-R) data. METHODS: A cross-sectional survey of adults with cystic fibrosis (CF) was conducted in the UK. The survey consisted of the CFQ-R, the EQ-5D and a background questionnaire. Eight regression models, exploring item and domain level predictors, were evaluated using three different modelling approaches: ordinary least squares (OLS), Tobit, and...

  2. Mapping the EQ-5D index from the cystic fibrosis questionnaire-revised using multiple modelling approaches

    OpenAIRE

    Acaster, Sarah; Pinder, Binny; Mukuria, Clara; Copans, Amanda

    2015-01-01

    Background This study was designed to develop a mapping algorithm to estimate EQ-5D utility values from Cystic Fibrosis Questionnaire-Revised (CFQ-R) data. Methods A cross-sectional survey of adults with cystic fibrosis (CF) was conducted in the UK. The survey consisted of the CFQ-R, the EQ-5D and a background questionnaire. Eight regression models, exploring item and domain level predictors, were evaluated using three different modelling approaches: ordinary least squares (OLS), Tobit, and a...

  3. Lessons learned from the cystic fibrosis pig.

    Science.gov (United States)

    Meyerholz, David K

    2016-07-01

    Deficient function in the anion channel cystic fibrosis (CF) transmembrane conductance regulator is the fundamental cause for CF. This is a monogenic condition that causes lesions in several organs including the respiratory tract, pancreas, liver, intestines, and reproductive tract. Lung disease is most notable, given it is the leading cause of morbidity and mortality in people with CF. Shortly after the identification of CF transmembrane conductance regulator, CF mouse models were developed that did not show spontaneous lung disease as seen in humans, and this spurred development of additional CF animal models. Pig models were considered a leading choice for several reasons including their similarity to humans in respiratory anatomy, physiology, and in size for translational imaging. The first CF pig models were reported in 2008 and have been extremely valuable to help clarify persistent questions in the field and advance understanding of disease pathogenesis. Because CF pigs are susceptible to lung disease like humans, they have direct utility in translational research. In addition, CF pig models are useful to compare and contrast with current CF mouse models, human clinical studies, and even newer CF animal models being characterized. This "triangulation" strategy could help identify genetic differences that underlie phenotypic variations, so as to focus and accelerate translational research. PMID:27142487

  4. Computed Tomography in pulmonary cystic fibrosis

    International Nuclear Information System (INIS)

    This study was aimed at evaluating CT sensitivity in identifying the signs of pulmonary cystic fibrosis (CF). The chests of 39 patients (16 males and 23 females, mean age 19.1 years) were examined by CT: all patients had been given a clinical score according to Schwachman and Kulckzycki criteria. Thickened bronchial walls were observed in all cases, which are typical of peribronchitis. Bronchiectases were present in 87% of cases; their extent, pattern and localization were exactly shown on CT scans. Bronchoceles were seen on CT scans in 64% of patients; less frequent was the finding of atelectases and subpleural bullous emphysema. In a great number of patients (64% and 82%, respectively) pleural thickening and hilar adenopathy were demonstrated on CT scans. In conclusion, our results confirm CT as a more sensitive method than conventional radiography to identify and locate the signs of pulmonary CF. The early identification of the lesions of high prognostic value, since the early detection and treatment of bronchoceles may prevent permanent bronchiectasis

  5. Cystic fibrosis on the African continent.

    Science.gov (United States)

    Stewart, Cheryl; Pepper, Michael S

    2016-07-01

    Cystic fibrosis (CF; OMIM 219700) is a life-shortening and costly autosomal recessive disease that has been most extensively studied in individuals of Caucasian descent. There is ample evidence, however, that it also affects other ethnicities. In Africa there have been several reports of CF, but there has been no concerted effort toward establishing the molecular epidemiology of this disease on the continent, which is the first step toward outlining a public health strategy to effectively address the needs of these patients. A literature search revealed reports from only 12 of the 54 African states on the molecular analysis of the mutations present in suspected CF patients, resulting in the identification of 79 mutations. Based on previous functional investigations, 39 of these cause CF, 10 are of varying clinical consequence, 4 have no associated evidence regarding whether they cause CF, 4 are synonymous, 5 are novel, and 21 are unique to Africa. We propose that CF be more thoroughly investigated on the continent to ensure that the public health needs of African CF patients-both those in Africa and those of African descent living elsewhere-are met.Genet Med 18 7, 653-662. PMID:26656651

  6. Vitamin K status in cystic fibrosis patients

    Directory of Open Access Journals (Sweden)

    Patrycja Krzyżanowska

    2010-12-01

    Full Text Available Vitamin K belongs to the family of fat-soluble vitamins and plays an important role in hemostasis, bone metabolism and may affect cerebral sphingolipid synthesis. It is a cofactor necessary for posttranslational γ-carboxylation of glutamyl residues in selected proteins such as the osteocalcin, and procoagulation factors II, VII, IX, X. Vitamin K deficient individuals appear to have more undercarboxylated proteins, which are functionally defective. The vitamin K deficiency has been frequently documented in patients with cystic fibrosis. The main possible causes of this deficiency include: fat malabsorption due to pancreatic exocrine insufficiency, cholestatic or  noncholestatic liver disease, reduced production of vitamin K by colonic flora related to chronic antibiotic treatments, bowel resections and increased mucous accumulation in the bowel. CF patients are more prone to osteopenia, caused by chronic vitamin K shortage, than to coagulopathy. Despite available evidence, which strongly suggests that all CF patients are at risk for developing vitamin K deficiency, its supplementation doses have not been established. Recent recommendations from Europe and the UK have suggested varied doses ranging from 0.3 mg/day to 10 mg/week. Further studies, both cross sectional and longitudinal interventional, are still required to determine routine and therapeutic supplementation doses.

  7. New and Emerging Treatments for Cystic Fibrosis.

    Science.gov (United States)

    Barry, Peter J; Jones, Andrew M

    2015-07-01

    Recently, a significant number of additional key medications have become licensed in Europe for the treatment of patients with cystic fibrosis (CF), including a number of inhaled antibiotics, such as nebulised aztreonam and dry powder versions of colistin and tobramycin for inhalation; dry powder inhaled mannitol, an agent to improve airway hydration and aid airway clearance; and ivacaftor, an oral therapy that directly acts on dysfunctional CFTR to correct the basic defect encountered in CF patients with the G551D CF gene mutation. The marked success of ivacaftor both in clinical trials and in post-licensing evaluation studies in treating patients with G551D and other gating mutations has greatly encouraged the ongoing development of similar therapies that can directly target the underlying cause of CF. Other therapies, including a number of anti-infectives, anti-inflammatories and replacement pancreatic enzymes, are currently undergoing clinical studies. This article reviews those treatments that have been recently licensed for CF and highlights some of the exciting emerging therapies presently under evaluation in clinical trials. In addition, it discusses some of the potential challenges being encountered by research and clinical teams in developing and delivering treatments for this condition. PMID:26091951

  8. The Evolution of Cystic Fibrosis Care.

    Science.gov (United States)

    Pittman, Jessica E; Ferkol, Thomas W

    2015-08-01

    Cystic fibrosis (CF) is the most common life-limiting inherited illness of whites. Most of the morbidity and mortality in CF stems from impaired mucociliary clearance leading to chronic, progressive airways obstruction and damage. Significant progress has been made in the care of patients with CF, with advances focused on improving mucociliary clearance, minimizing inflammatory damage, and managing infections; these advances include new antimicrobial therapies, mucolytic and osmotic agents, and antiinflammatory treatments. More recently, researchers have targeted disease-causing mutations using therapies to promote gene transcription and improve channel function, which has led to impressive physiologic changes in some patients. As we develop more advanced, allele-directed therapies for the management of CF, it will become increasingly important to understand the specific genetic and environmental interactions that cause the significant heterogeneity of lung disease seen in the CF population. This understanding of CF endotypes will allow for more targeted, personalized therapies for future patients. This article reviews the genetic and molecular basis of CF lung disease, the treatments currently available, and novel therapies that are in development. PMID:25764168

  9. Lentiviral Vectors and Cystic Fibrosis Gene Therapy

    Directory of Open Access Journals (Sweden)

    Massimo Conese

    2010-01-01

    Full Text Available Cystic fibrosis (CF is a chronic autosomic recessive syndrome, caused by mutations in the CF Transmembrane Conductance Regulator (CFTR gene, a chloride channel expressed on the apical side of the airway epithelial cells. The lack of CFTR activity brings a dysregulated exchange of ions and water through the airway epithelium, one of the main aspects of CF lung disease pathophysiology. Lentiviral (LV vectors, of the Retroviridae family, show interesting properties for CF gene therapy, since they integrate into the host genome and allow long-lasting gene expression. Proof-of-principle that LV vectors can transduce the airway epithelium and correct the basic electrophysiological defect in CF mice has been given. Initial data also demonstrate that LV vectors can be repeatedly administered to the lung and do not give rise to a gross inflammatory process, although they can elicit a T cell-mediated response to the transgene. Future studies will clarify the efficacy and safety profile of LV vectors in new complex animal models with CF, such as ferrets and pigs.

  10. Asthma and cystic fibrosis: A tangled web.

    LENUS (Irish Health Repository)

    Kent, Brian D

    2014-03-01

    Successfully diagnosing concomitant asthma in people with cystic fibrosis (CF) is a challenging proposition, and the utility of conventional diagnostic criteria of asthma in CF populations remains uncertain. Nonetheless, the accurate identification of individuals with CF and asthma allows appropriate tailoring of therapy, and should reduce the unnecessary use of asthma medication in broader CF cohorts. In this review, we discuss the diagnostic challenge posed by asthma in CF, both in terms of clinical evaluation, and of interpretation of pulmonary function testing and non-invasive markers of airway inflammation. We also examine how the role of cross-sectional thoracic imaging in CF and asthma can assist in the diagnosis of asthma in these patients. Finally, we critically appraise the evidence base behind the use of asthma medications in CF populations, with a particular focus on the use of inhaled corticosteroids and bronchodilators. As shall be discussed, the gaps in the current literature make further high-quality research in this field imperative. Pediatr Pulmonol. 2014; 49:205-213. © 2014 Wiley Periodicals, Inc.

  11. Cystic fibrosis: newborn screening in America.

    Science.gov (United States)

    Kleven, Daniel T; McCudden, Christopher R; Willis, Monte S

    2008-07-01

    Cystic fibrosis is the most common lethal genetic disease in Caucasians, manifesting as progressive lung dysfunction, pancreatic insufficiency, and intestinal disease. CF was traditionally diagnosed clinically, either because of a family history or occurrence of meconium ileus, or as a result of intestinal malabsorption and chronic pulmonary disease. In 1979, it was discovered that immunoreactive trypsinogen was increased in neonatal dried-blood specimens on Guthrie cards, making it possible to screen neonates. During the past decades, survival rates of patients with CF have improved significantly (see Figure 5). To continue this progress, universal newborn screening has been implemented in many states as an addition to the arsenal of therapies and strategies to improve survival. National newborn-screening programs to identify CF patients after birth have been adopted for a number of years in Europe, Australia, and Canada. As expected, many benefits have been seen due to the early identification of CF patients, including improved survival, better lung function and growth with less intensive therapy, and reduced cost of therapy. To date, 37 states in the United States have adopted similar programs, in the hopes of improving CF outcomes. This welcome trend should help improve the lives of CF patients living in America. PMID:18717498

  12. Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis.

    Science.gov (United States)

    Derichs, Nico

    2013-03-01

    Cystic fibrosis (CF) is caused by genetic mutations that affect the cystic fibrosis transmembrane conductance regulator (CFTR) protein. These mutations can impact the synthesis and transfer of the CFTR protein to the apical membrane of epithelial cells, as well as influencing the gating or conductance of chloride and bicarbonate ions through the channel. CFTR dysfunction results in ionic imbalance of epithelial secretions in several organ systems, such as the pancreas, gastrointestinal tract, liver and the respiratory system. Since discovery of the CFTR gene in 1989, research has focussed on targeting the underlying genetic defect to identify a disease-modifying treatment for CF. Investigated management strategies have included gene therapy and the development of small molecules that target CFTR mutations, known as CFTR modulators. CFTR modulators are typically identified by high-throughput screening assays, followed by preclinical validation using cell culture systems. Recently, one such modulator, the CFTR potentiator ivacaftor, was approved as an oral therapy for CF patients with the G551D-CFTR mutation. The clinical development of ivacaftor not only represents a breakthrough in CF care but also serves as a noteworthy example of personalised medicine. PMID:23457166

  13. Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Nico Derichs

    2013-03-01

    Full Text Available Cystic fibrosis (CF is caused by genetic mutations that affect the cystic fibrosis transmembrane conductance regulator (CFTR protein. These mutations can impact the synthesis and transfer of the CFTR protein to the apical membrane of epithelial cells, as well as influencing the gating or conductance of chloride and bicarbonate ions through the channel. CFTR dysfunction results in ionic imbalance of epithelial secretions in several organ systems, such as the pancreas, gastrointestinal tract, liver and the respiratory system. Since discovery of the CFTR gene in 1989, research has focussed on targeting the underlying genetic defect to identify a disease-modifying treatment for CF. Investigated management strategies have included gene therapy and the development of small molecules that target CFTR mutations, known as CFTR modulators. CFTR modulators are typically identified by high-throughput screening assays, followed by preclinical validation using cell culture systems. Recently, one such modulator, the CFTR potentiator ivacaftor, was approved as an oral therapy for CF patients with the G551D-CFTR mutation. The clinical development of ivacaftor not only represents a breakthrough in CF care but also serves as a noteworthy example of personalised medicine.

  14. Rehabilitation in Patients with Chronic Respiratory Disease Other than Chronic Obstructive Pulmonary Disease: Exercise and Physical Activity Interventions in Cystic Fibrosis and Non-Cystic Fibrosis Bronchiectasis

    OpenAIRE

    Burtin, Chris; Hebestreit, Helge

    2015-01-01

    A relevant proportion of children and adults with cystic fibrosis (CF) have a marked decrease in exercise tolerance, which can be partly related to impaired muscle function and decreased physical activity levels in daily life, in addition to lung disease. Preliminary findings suggest that patients with non-CF bronchiectasis face the same problems. These patients might be excellent candidates for exercise and physical activity interventions. This review elaborates on the rationale for exercise...

  15. Phagocytosis of Pseudomonas aeruginosa by polymorphonuclear leukocytes and monocytes: effect of cystic fibrosis serum.

    OpenAIRE

    Thomassen, M J; Demko, C A; Wood, R E; Sherman, J. M.

    1982-01-01

    It has been shown previously that serum from chronically infected patients with cystic fibrosis inhibits the phagocytosis of Pseudomonas aeruginosa by both normal and cystic fibrosis alveolar macrophages. In the present study, the ability of peripheral monocytes and polymorphonuclear leukocytes from normal volunteers and cystic fibrosis patients to phagocytize P. aeruginosa was shown not to be inhibited in the presence of serum from cystic fibrosis patients.

  16. Clinical and Genetic Correlates of Exercise Performance in Young Children with Cystic Fibrosis1,2

    OpenAIRE

    McBride, Michael G.; Schall, Joan I.; Zemel, Babette S.; Stallings, Virginia A.; Ittenbach, Richard F.; Paridon, Stephen M.

    2010-01-01

    Exercise performance in individuals with cystic fibrosis has been shown to be related to the degree of pulmonary dysfunction and undernutrition and genetic profile. The aim of this study was to examine these relationships in young children with cystic fibrosis. The participants were 64 children ages 8 to 11 years (M = 9.3, SD = 0.9) with cystic fibrosis and pancreatic insufficiency recruited from 13 different U.S. Cystic Fibrosis Centers. Assigned to one of three groups by Δ...

  17. Hypertonic Saline in Treatment of Pulmonary Disease in Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    Emer P. Reeves

    2012-01-01

    Full Text Available The pathogenesis of lung disease in cystic fibrosis is characterised by decreased airway surface liquid volume and subsequent failure of normal mucociliary clearance. Mucus within the cystic fibrosis airways is enriched in negatively charged matrices composed of DNA released from colonizing bacteria or inflammatory cells, as well as F-actin and elevated concentrations of anionic glycosaminoglycans. Therapies acting against airway mucus in cystic fibrosis include aerosolized hypertonic saline. It has been shown that hypertonic saline possesses mucolytic properties and aids mucociliary clearance by restoring the liquid layer lining the airways. However, recent clinical and bench-top studies are beginning to broaden our view on the beneficial effects of hypertonic saline, which now extend to include anti-infective as well as anti-inflammatory properties. This review aims to discuss the described therapeutic benefits of hypertonic saline and specifically to identify novel models of hypertonic saline action independent of airway hydration.

  18. Night blindness in a teenager with cystic fibrosis.

    LENUS (Irish Health Repository)

    Roddy, Marie Frances

    2011-12-01

    This article describes the case of a 16-year-old boy with cystic fibrosis who presented with difficulty seeing in the dark. He had a history of bowel surgery at birth, and he developed cystic fibrosis liver disease and osteopenia during his teenage years. He always had good lung function. When his serum vitamin A level was checked, it was undetectable in sample. He was diagnosed with night blindness and commenced on high-dose vitamin A. His symptoms resolved within 3 days. However, it took over 1 year for his vitamin A level to return to normal. This case emphasizes the importance of monitoring vitamin levels in cystic fibrosis to detect deficiency and prevent long-term consequences, and it highlights the challenges encountered during the course of night blindness treatment.

  19. Mechanisms of the noxious inflammatory cycle in cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Freyssinet Jean-Marie

    2009-03-01

    Full Text Available Abstract Multiple evidences indicate that inflammation is an event occurring prior to infection in patients with cystic fibrosis. The self-perpetuating inflammatory cycle may play a pathogenic part in this disease. The role of the NF-κB pathway in enhanced production of inflammatory mediators is well documented. The pathophysiologic mechanisms through which the intrinsic inflammatory response develops remain unclear. The unfolded mutated protein cystic fibrosis transmembrane conductance regulator (CFTRΔF508, accounting for this pathology, is retained in the endoplasmic reticulum (ER, induces a stress, and modifies calcium homeostasis. Furthermore, CFTR is implicated in the transport of glutathione, the major antioxidant element in cells. CFTR mutations can alter redox homeostasis and induce an oxidative stress. The disturbance of the redox balance may evoke NF-κB activation and, in addition, promote apoptosis. In this review, we examine the hypotheses of the integrated pathogenic processes leading to the intrinsic inflammatory response in cystic fibrosis.

  20. Hypertonic saline in treatment of pulmonary disease in cystic fibrosis.

    LENUS (Irish Health Repository)

    Reeves, Emer P

    2012-01-01

    The pathogenesis of lung disease in cystic fibrosis is characterised by decreased airway surface liquid volume and subsequent failure of normal mucociliary clearance. Mucus within the cystic fibrosis airways is enriched in negatively charged matrices composed of DNA released from colonizing bacteria or inflammatory cells, as well as F-actin and elevated concentrations of anionic glycosaminoglycans. Therapies acting against airway mucus in cystic fibrosis include aerosolized hypertonic saline. It has been shown that hypertonic saline possesses mucolytic properties and aids mucociliary clearance by restoring the liquid layer lining the airways. However, recent clinical and bench-top studies are beginning to broaden our view on the beneficial effects of hypertonic saline, which now extend to include anti-infective as well as anti-inflammatory properties. This review aims to discuss the described therapeutic benefits of hypertonic saline and specifically to identify novel models of hypertonic saline action independent of airway hydration.

  1. Breakthrough therapies: Cystic fibrosis (CF) potentiators and correctors.

    Science.gov (United States)

    Solomon, George M; Marshall, Susan G; Ramsey, Bonnie W; Rowe, Steven M

    2015-10-01

    Cystic Fibrosis is caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene resulting in abnormal protein function. Recent advances of targeted molecular therapies and high throughput screening have resulted in multiple drug therapies that target many important mutations in the CFTR protein. In this review, we provide the latest results and current progress of CFTR modulators for the treatment of cystic fibrosis, focusing on potentiators of CFTR channel gating and Phe508del processing correctors for the Phe508del CFTR mutation. Special emphasis is placed on the molecular basis underlying these new therapies and emerging results from the latest clinical trials. The future directions for augmenting the rescue of Phe508del with CFTR modulators are also emphasized. PMID:26097168

  2. Preimplantation genetic diagnosis for cystic fibrosis: a case report.

    Science.gov (United States)

    Biazotti, Maria Cristina Santoro; Pinto Junior, Walter; Albuquerque, Maria Cecília Romano Maciel de; Fujihara, Litsuko Shimabukuro; Suganuma, Cláudia Haru; Reigota, Renata Bednar; Bertuzzo, Carmen Sílvia

    2015-01-01

    Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This disorder produces a variable phenotype including lung disease, pancreatic insufficiency, and meconium ileus plus bilateral agenesis of the vas deferens causing obstructive azoospermia and male infertility. Preimplantation genetic diagnosis is an alternative that allows identification of embryos affected by this or other genetic diseases. We report a case of couple with cystic fibrosis; the woman had the I148 T mutation and the man had the Delta F508 gene mutation. The couple underwent in vitro fertilization, associated with preimplantation genetic diagnosis, and with subsequent selection of healthy embryos for uterine transfer. The result was an uneventful pregnancy and delivery of a healthy male baby. PMID:25993078

  3. Aerosol scintigraphy in the assessment of therapy for cystic fibrosis

    International Nuclear Information System (INIS)

    This paper evaluates respiration therapy, counselling, and antibiotic therapy in the treatment of exacerbations of cystic fibrosis. Thirteen patients with cystic fibrosis, aged 11-32 years, who were hospitalized for exacerbation and who had sputum cultures positive for Pseudomonas were treated initially for 3 days with respiration therapy and counselling followed by 14 days of therapy with antibiotics (n = 7) or placebo (n = 6). Tc-99m-DTPA aerosol scintigraphy was performed on days, 1, 4, and 17. Scintigrams were evaluated for change in number of nonventilated segments, change in number of bronchial deposits of aerosol, and subjective overall change

  4. Computed tomography of the thorax in children with cystic fibrosis

    International Nuclear Information System (INIS)

    We studied retrospectively the value of computed tomography of the thorax in patients suffering from cystic fibrosis. Twenty-six patients were studied, which showed as the most frequency pulmonary findings bronchial wall thickening in 22 patients (84.6), followed by bronchiectasis in 16 patients (61.5%). Less frequent finding were ill-defined patch consolidation, mucoid impaction, bullaes and atelectasis. We found a predominant distribution of bronchial wall thickening and bronchiectasis in the upper lobes of the lungs. Computed tomography is the more sensitive technique for early visualization and location of the manifestations of cystic fibrosis bronchopathy. (author)

  5. Airway inflammatory markers in individuals with cystic fibrosis and non-cystic fibrosis bronchiectasis

    Directory of Open Access Journals (Sweden)

    Bergin DA

    2013-01-01

    Full Text Available David A Bergin, Killian Hurley, Adwait Mehta, Stephen Cox, Dorothy Ryan, Shane J O’Neill, Emer P Reeves*, Noel G McElvaney*Respiratory Research Division, Department of Medicine, Royal College of Surgeons in Ireland, Education and Research Centre, Beaumont Hospital, Dublin, Ireland*These authors share joint senior authorshipAbstract: Bronchiectasis is an airway disease characterized by thickening of the bronchial wall, chronic inflammation, and destruction of affected bronchi. Underlying etiologies include severe pulmonary infection and cystic fibrosis (CF; however, in a substantial number of patients with non-CF-related bronchiectasis (NCFB, no cause is found. The increasing armamentarium of therapies now available to combat disease in CF is in stark contrast to the limited tools employed in NCFB. Our study aimed to evaluate similarities and differences in airway inflammatory markers in patients with NCFB and CF, and to suggest potential common treatment options. The results of this study show that NCFB bronchoalveolar lavage fluid samples possessed significantly increased NE activity and elevated levels of matrix metalloproteinases 2 (MMP-2 and MMP-9 compared to healthy controls (P < 0.01; however, the levels detected were lower than in CF (P < 0.01. Interleukin-8 (IL-8 concentrations were significantly elevated in NCFB and CF compared to controls (P < 0.05, but in contrast, negligible levels of IL-18 were detected in both NCFB and CF. Analogous concentrations of IL-10 and IL-4 measured in NCFB and CF were statistically elevated above the healthy control values (P < 0.05 and P < 0.01, respectively. These results indicate high levels of important proinflammatory markers in both NCFB and CF and support the use of appropriate anti-inflammatory therapies already employed in the treatment of CF bronchiectasis in NCFB.Keywords: bronchiectasis, cystic fibrosis, proteases, inflammation

  6. Pancreatic changes in cystic fibrosis: CT and sonographic appearances

    International Nuclear Information System (INIS)

    The computed tomographic (CT) and sonographic appearances of the late stages of pancreatic damage in three patients with cystic fibrosis are illustrated. All three had severe exocrine pancreatic insufficiency with steatorrhea. In two patients CT revealed complete fatty replacement of the entire pancreas. In the third, increased echogenicity of the pancreas on sonography and the inhomogeneous attenuation on CT were interpreted as being the result of a combination of fibrosis, fatty replacement, calcification, and probable cyst formation

  7. Cystic fibrosis transmembrane conductance regulator (CFTR allelic variants relate to shifts in faecal microbiota of cystic fibrosis patients.

    Directory of Open Access Journals (Sweden)

    Serena Schippa

    Full Text Available INTRODUCTION: In this study we investigated the effects of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR gene variants on the composition of faecal microbiota, in patients affected by Cystic Fibrosis (CF. CFTR mutations (F508del is the most common lead to a decreased secretion of chloride/water, and to mucus sticky secretions, in pancreas, respiratory and gastrointestinal tracts. Intestinal manifestations are underestimated in CF, leading to ileum meconium at birth, or small bowel bacterial overgrowth in adult age. METHODS: Thirty-six CF patients, fasting and under no-antibiotic treatment, were CFTR genotyped on both alleles. Faecal samples were subjected to molecular microbial profiling through Temporal Temperature Gradient Electrophoresis and species-specific PCR. Ecological parameters and multivariate algorithms were employed to find out if CFTR variants could be related to the microbiota structure. RESULTS: Patients were classified by two different criteria: 1 presence/absence of F508del mutation; 2 disease severity in heterozygous and homozygous F508del patients. We found that homozygous-F508del and severe CF patients exhibited an enhanced dysbiotic faecal microbiota composition, even within the CF cohort itself, with higher biodiversity and evenness. We also found, by species-specific PCR, that potentially harmful species (Escherichia coli and Eubacterium biforme were abundant in homozygous-F508del and severe CF patients, while beneficial species (Faecalibacterium prausnitzii, Bifidobacterium spp., and Eubacterium limosum were reduced. CONCLUSIONS: This is the first report that establishes a link among CFTR variants and shifts in faecal microbiota, opening the way to studies that perceive CF as a 'systemic disease', linking the lung and the gut in a joined axis.

  8. Genistein-induced fluid accumulation in ovariectomised rats' uteri is associated with increased cystic fibrosis transmembrane regulator expression

    Directory of Open Access Journals (Sweden)

    Asma Chinigarzadeh

    2014-02-01

    Full Text Available OBJECTIVE: High genistein doses have been reported to induce fluid accumulation in the uteri of ovariectomised rats, although the mechanism underlying this effect remains unknown. Because genistein binds to the oestrogen receptor and the cystic fibrosis transmembrane regulator mediates uterine fluid secretion, we hypothesised that this genistein effect involves both the oestrogen receptor and cystic fibrosis transmembrane regulator. METHODS: Ovariectomised adult female Sprague-Dawley rats were treated with 25, 50, or 100 mg/kg/day genistein for three consecutive days with and without the ER antagonist ICI 182780. One day after the final drug injection, the animals were humanely sacrificed, and the uteri were removed for histology and cystic fibrosis transmembrane regulator mRNA and protein expression analysis using real-time polymerase chain reaction and Western blotting, respectively. The cystic fibrosis transmembrane regulator protein distribution was analysed visually by immunohistochemistry. RESULTS: The histological analysis revealed an increase in the circumference of the uterine lumen with increasing doses of genistein, which was suggestive of fluid accumulation. Moreover, genistein stimulated a dose-dependent increase in the expression of cystic fibrosis transmembrane regulator protein and mRNA, and high-intensity cystic fibrosis transmembrane regulator immunostaining was observed at the apical membrane of the luminal epithelium following 50 and 100 mg/kg/day genistein treatment. The genistein-induced increase in uterine luminal circumference and cystic fibrosis transmembrane regulator expression was antagonised by treatment with ICI 182780. CONCLUSION: Genistein-induced luminal fluid accumulation in ovariectomised rats' uteri involves the oestrogen receptor and up-regulation of cystic fibrosis transmembrane regulator expression, and these findings reveal the mechanism underlying the effect of this compound on changes in fluid volume in

  9. Use of cough swabs in a cystic fibrosis clinic

    OpenAIRE

    Equi, A; Pike, S.; Davies, J; Bush, A

    2001-01-01

    We audited prospectively 322 cough swabs taken from cystic fibrosis children and compared cough swabs with concomitant sputum samples in 30 expectorating patients. A positive cough swab is a strong predictor of sputum culture. However, a negative cough swab does not rule out infection. Persistent symptoms should be further investigated.



  10. New and emerging targeted therapies for cystic fibrosis

    Science.gov (United States)

    Rowe, Steven M

    2016-01-01

    Cystic fibrosis (CF) is a monogenic autosomal recessive disorder that affects about 70 000 people worldwide. The clinical manifestations of the disease are caused by defects in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The discovery of the CFTR gene in 1989 has led to a sophisticated understanding of how thousands of mutations in the CFTR gene affect the structure and function of the CFTR protein. Much progress has been made over the past decade with the development of orally bioavailable small molecule drugs that target defective CFTR proteins caused by specific mutations. Furthermore, there is considerable optimism about the prospect of gene replacement or editing therapies to correct all mutations in cystic fibrosis. The recent approvals of ivacaftor and lumacaftor represent the genesis of a new era of precision medicine in the treatment of this condition. These drugs are having a positive impact on the lives of people with cystic fibrosis and are potentially disease modifying. This review provides an update on advances in our understanding of the structure and function of the CFTR, with a focus on state of the art targeted drugs that are in development. PMID:27030675

  11. Diagnosis of allergic bronchopulmonary aspergillosis (ABPA) in cystic fibrosis

    DEFF Research Database (Denmark)

    Skov, M; Koch, C; Reimert, C M;

    2000-01-01

    The diagnosis of allergic bronchopulmonary aspergillosis (ABPA) in cystic fibrosis (CF) patients may be difficult to establish because ABPA shares many characteristics with coexisting atopy or other lung infections in these patients. This study aimed to evaluate the sensitivity and specificity of...

  12. Students as Technicians: Screening Newborns for Cystic Fibrosis

    Science.gov (United States)

    Gusky, Sharon

    2014-01-01

    In this activity, freshman college students learn biotechnology techniques while playing the role of a laboratory technician. They perform simulations of three diagnostic tests used to screen newborns for cystic fibrosis. By performing an ELISA, a PCR analysis, and a conductivity test, students learn how biotechnology techniques can be used to…

  13. Treatment of lung infection in patients with cystic fibrosis

    DEFF Research Database (Denmark)

    Döring, Gerd; Flume, Patrick; Heijerman, Harry;

    2012-01-01

    In patients with cystic fibrosis (CF) lung damage secondary to chronic infection is the main cause of death. Treatment of lung disease to reduce the impact of infection, inflammation and subsequent lung injury is therefore of major importance. Here we discuss the present status of antibiotic...

  14. Serodiagnosis of Mycobacterium abscessus complex infection in cystic fibrosis

    DEFF Research Database (Denmark)

    Qvist, Tavs; Pressler, Tania; Taylor-Robinson, David;

    2015-01-01

    Early signs of pulmonary disease with Mycobacterium abscessus complex (MABSC) can be missed in patients with cystic fibrosis (CF). A serological method could help stratify patients according to risk. The objective of this study was to test the diagnostic accuracy of a novel method for investigating...

  15. Bacteriocin-mediated competition in cystic fibrosis lung infections

    DEFF Research Database (Denmark)

    Ghoul, Melanie; West, Stuart A.; Johansen, Helle Krogh;

    2015-01-01

    , especially human pathogens, remains to be tested. We examined the role of bacteriocins in competition using Pseudomonas aeruginosa strains infecting lungs of humans with cystic fibrosis (CF). We assessed the ability of different strains to kill each other using phenotypic assays, and sequenced their genomes...

  16. Cystic fibrosis heterozygotes do not have increased platelet activation

    DEFF Research Database (Denmark)

    Tarnow, Inge; Michelson, Alan D.; Frelinger III, Andrew L.;

    2007-01-01

    Introduction: We have previously demonstrated platelet hyperreactivity in cystic fibrosis (CF) patients. Carriers of one CF m utation (heterozygotes) have been shown to have abnormalities related to the presence of only one-half the normal amount of CF transmembrane conductance regulator protein...

  17. Shifting paradigms of nontuberculous mycobacteria in cystic fibrosis

    DEFF Research Database (Denmark)

    Qvist, Tavs; Pressler, Tania; Høiby, Niels;

    2014-01-01

    Important paradigms of pulmonary disease with nontuberculous mycobacteria (NTM) are currently shifting based on an increasing attention within the field of cystic fibrosis (CF). These shifts are likely to benefit the management of all patients with pulmonary NTM, regardless of underlying pathology...

  18. Pseudomonas aeruginosa host-adaptation in cystic fibrosis patients

    DEFF Research Database (Denmark)

    Rau, Martin Holm

    Pseudomonas aeruginosa is an opportunistic pathogen capable of transition from an environmental lifestyle to a host-associated lifestyle, as exemplified in the life-long airway infection of cystic fibrosis (CF) patients. Long-term infection is associated with extensive genetic adaptation of P...

  19. THE METABOLIC EFFECTS OF PREGNANCY IN CYSTIC FIBROSIS

    Science.gov (United States)

    Our purpose was to determine glucose tolerance in pregnant women with cystic fibrosis (CF) and to relate glucose tolerance to insulin sensitivity, hepatic glucose production, and protein turnover. We studied 8 CF women during pregnancy (CFPreg). Results were compared with those from 9 pregnant contr...

  20. Mycobacterium chimaera pulmonary infection complicating cystic fibrosis: a case report

    Directory of Open Access Journals (Sweden)

    Rolain Jean-Marc

    2011-09-01

    Full Text Available Abstract Background Mycobacterium chimaera is a recently described species within the Mycobacterium avium complex. Its pathogenicity in respiratory tract infection remains disputed. It has never been isolated during cystic fibrosis respiratory tract infection. Case presentation An 11-year-old boy of Asian ethnicity who was born on Réunion Island presented to our hospital with cystic fibrosis after a decline in his respiratory function over the course of seven years. We found that the decline in his respiratory function was correlated with the persistent presence of a Mycobacterium avium complex organism further identified as M. chimaera. Conclusion Using sequencing-based methods of identification, we observed that M. chimaera organisms contributed equally to respiratory tract infections in patients with cystic fibrosis when compared with M. avium subsp. hominissuis isolates. We believe that M. chimaera should be regarded as an emerging opportunistic respiratory pathogen in patients with cystic fibrosis, including young children, and that its detection warrants long-lasting appropriate anti-mycobacterial treatment to eradicate it.

  1. Treatment of pulmonary exacerbations in cystic fibrosis - could do better?

    Science.gov (United States)

    Smyth, Alan

    2016-08-01

    This article describes the nature and significance of pulmonary exacerbations in cystic fibrosis (CF). The effectiveness and safety of current exacerbation treatment are explored. The article concludes with a summary of clinical trials (completed and ongoing) which aim to improve the efficacy and safety of exacerbation treatment. PMID:27349725

  2. Hypertonic saline releases the attached small intestinal cystic fibrosis mucus

    NARCIS (Netherlands)

    A. Ermund (Anna); L.N. Meiss (Lauren N.); B.J. Scholte (Bob); G.C. Hansson (Gunnar)

    2015-01-01

    textabstractSummary: Hypertonic saline inhalation has become a cornerstone in the treatment of cystic fibrosis (CF), but its effect on CF mucus is still not understood. In CF, mucus stagnates in the airways, causing mucus plugging, and forming a substrate for bacterial invasion. Using horizontal Uss

  3. Transcellular sodium transport in cultured cystic fibrosis human nasal epithelium

    DEFF Research Database (Denmark)

    Willumsen, Niels J.; Boucher, Richard C.

    1991-01-01

    Cystic fibrosis (CF) airway epithelia exhibit raised transepithelial Na+ transport rates, as determined by open-circuit isotope fluxes and estimates of the amiloride-sensitive equivalent short-circuit current (Ieq). To study the contribution of apical and basolateral membrane paths to raised Na+ ...

  4. Microprobe analysis in studies and diagnosis of cystic fibrosis

    International Nuclear Information System (INIS)

    This review summarizes X-ray microanalysis studies of cystic fibrosis (CF) with emphasis on our own work, especially on fibroblasts and the activity of the CF factors. The possible use of X-ray microanalysis in diagnosis of CF will be considered, and we will attempt to put our data in a more general perspective with regard to the basic defect in CF

  5. Neonatal small left colon in an infant with cystic fibrosis

    International Nuclear Information System (INIS)

    A small left colon has been observed in neonates due to several causes: aganglionosis, meconium plug, and neonatal small left colon syndrome. We report a case of small left colon in an infant with cystic fibrosis, underscoring the need to consider this diesease in the diagnostic work up. (orig.)

  6. Pancreatic Cystosis in Two Adolescents with Cystic Fibrosis

    OpenAIRE

    Elpis Hatziagorou; Asterios Kampouras; Maria Sidiropoulou; Andreas Markou; Athanasia Anastasiou; John Tsanakas

    2016-01-01

    We present pancreatic cystosis in two adolescents with cystic fibrosis, a 13-year-old girl and an 18-year-old boy. In pancreatic cystosis, which is a rare manifestation of CF, the pancreatic parenchyma is replaced with multiple cysts of different sizes. Pancreatic cystosis is mainly an imaging based diagnosis and frequent follow-up should be recommended.

  7. Lung resection in cystic fibrosis patients with localised pulmonary disease.

    OpenAIRE

    Lucas, J; Connett, G J; Lea, R.; Rolles, C J; Warner, J. O.

    1996-01-01

    The results of lobar resection to treat severe localised bronchiectasis in six children with cystic fibrosis are described. Sustained clinical improvements occurred in children undergoing this surgical approach to treatment. Detailed assessment and intensive preoperative and postoperative medical treatment are essential to a favourable outcome in carefully selected patients.

  8. Chronic Melioidosis in a Patient with Cystic Fibrosis

    OpenAIRE

    Schülin, Tanja; Steinmetz, Ivo

    2001-01-01

    Burkholderia pseudomallei, the causative agent of melioidosis, is endemic in Southeast Asia and northern Australia, where it can be found in soil and surface water. We report a case of chronic pulmonary melioidosis in a patient with cystic fibrosis who had traveled to an area where B. pseudomallei is endemic.

  9. A functional CFTR assay using primary cystic fibrosis intestinal organoids

    NARCIS (Netherlands)

    Dekkers, Johanna F.; Wiegerinck, Caroline L.; de Jonge, Hugo R.; Bronsveld, Inez; Janssens, Hettie M.; de Winter-de Groot, Karin M.; Brandsma, Arianne M.; de Jong, Nienke W. M.; Bijvelds, Marcel J. C.; Scholte, Bob J.; Nieuwenhuis, Edward E. S.; van den Brink, Stieneke; Clevers, Hans; van der Ent, Cornelis K.; Middendorp, Sabine; Beekman, Jeffrey M.

    2013-01-01

    We recently established conditions allowing for long-term expansion of epithelial organoids from intestine, recapitulating essential features of the in vivo tissue architecture. Here we apply this technology to study primary intestinal organoids of people suffering from cystic fibrosis, a disease ca

  10. Vaccines for preventing infection with Pseudomonas aeruginosa in cystic fibrosis

    DEFF Research Database (Denmark)

    Johansen, Helle Krogh; Gøtzsche, Peter C

    2015-01-01

    update of a previously published review. OBJECTIVES: To assess the effectiveness of vaccination against Pseudomonas aeruginosa in cystic fibrosis. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register using the terms vaccines AND pseudomonas (last search 30...... fibrosis. DATA COLLECTION AND ANALYSIS: The authors independently selected trials, assessed them and extracted data. MAIN RESULTS: Six trials were identified. Two trials were excluded since they were not randomised and one old, small trial because it was not possible to assess whether is was randomised....... The three included trials comprised 483, 476 and 37 patients, respectively. No data have been published from one of the large trials, but the company stated in a press release that the trial failed to confirm the results from an earlier study and that further clinical development was suspended. In the...

  11. Transitions in Health Care: What Can We Learn from Our Experience with Cystic Fibrosis.

    Science.gov (United States)

    West, Natalie E; Mogayzel, Peter J

    2016-10-01

    Numerous individuals with chronic disease age into adulthood each year, necessitating transition from a pediatric to an adult medical care team. Transition should start early in adolescence and occur gradually over years, preparing the individual for the transfer to the adult team. Cystic fibrosis (CF) has a growing population of adults, as survival over the past several decades has increased. The CF Foundation has implemented guidelines for the transition process. The transition process for individuals with CF provides an example that could be adapted into other chronic disease populations, to provide a successful and meaningful transition into adult care. PMID:27565366

  12. Low Levels of IGF-1 Contribute to Alveolar Macrophage Dysfunction in Cystic Fibrosis1

    OpenAIRE

    Bessich, Jamie L.; Nymon, Amanda B.; Moulton, Lisa A; Dorman, Dana; Ashare, Alix

    2013-01-01

    Alveolar macrophages are major contributors to lung innate immunity. Although alveolar macrophages from CFTR−/− mice have impaired function, no study has investigated primary alveolar macrophages in adults with cystic fibrosis (CF). CF patients have low levels of insulin-like growth factor 1 (IGF-1), and our prior studies demonstrate a relationship between IGF-1 and macrophage function. We hypothesize that reduced IGF-1 in CF leads to impaired alveolar macrophage function and chronic infectio...

  13. Coincidence of Cystic Fibrosis in Mother and her Child Related to Infertility

    OpenAIRE

    Alireza Nikzad Jamnani; Mehri Najafi Sani; Armen Malekiyan

    2010-01-01

    Cystic fibrosis (CF), the most common life-shortening, hereditary disease in whites, manifestsitself principally in childhood. Patients presenting with CF as adults appear to be different whencompared to patients diagnosed with CF during childhood. Often these patients have been previouslydiagnosed with asthma, chronic bronchitis or emphysema.We present a case of a woman diagnosed with CF at age 37 years. We noticed her finger clubbingduring her son’s hospital admission for CF decompensation....

  14. Determinants of exercise capacity in cystic fibrosis patients with mild-to-moderate lung disease

    OpenAIRE

    Pastré, Jean; Prévotat, Anne; Tardif, Catherine; Langlois, Carole; Duhamel, Alain; Wallaert, Benoit

    2014-01-01

    Background Adult patients with cystic fibrosis (CF) frequently have reduced exercise tolerance, which is multifactorial but mainly due to bronchial obstruction. The aim of this retrospective analysis was to determine the mechanisms responsible for exercise intolerance in patients with mild-to-moderate or severe disease. Methods Cardiopulmonary exercise testing with blood gas analysis at peak exercise was performed in 102 patients aged 28 ± 11 years: 48 patients had severe lung disease (FEV1 ...

  15. Intestinal lesions are associated with altered intestinal microbiome and are more frequent in children and young adults with cystic fibrosis and cirrhosis.

    Directory of Open Access Journals (Sweden)

    Thomas Flass

    Full Text Available Cirrhosis (CIR occurs in 5-7% of cystic fibrosis (CF patients. We hypothesized that alterations in intestinal function in CF contribute to the development of CIR.Determine the frequency of macroscopic intestinal lesions, intestinal inflammation, intestinal permeability and characterize fecal microbiome in CF CIR subjects and CF subjects with no liver disease (CFnoLIV.11 subjects with CFCIR (6 M, 12.8 yrs ± 3.8 and 19 matched with CFnoLIV (10 M, 12.6 yrs ± 3.4 underwent small bowel capsule endoscopy, intestinal permeability testing by urinary lactulose: mannitol excretion ratio, fecal calprotectin determination and fecal microbiome characterization.CFCIR and CFnoLIV did not differ in key demographics or CF complications. CFCIR had higher GGT (59±51 U/L vs 17±4 p = 0.02 and lower platelet count (187±126 vs 283±60 p = 0.04 and weight (-0.86 ± 1.0 vs 0.30 ± 0.9 p = 0.002 z scores. CFCIR had more severe intestinal mucosal lesions on capsule endoscopy (score ≥4, 4/11 vs 0/19 p = 0.01. Fecal calprotectin was similar between CFCIR and CFnoLIV (166 μg/g ±175 vs 136 ± 193 p = 0.58, nl <120. Lactulose:mannitol ratio was elevated in 27/28 subjects and was slightly lower in CFCIR vs CFnoLIV (0.08±0.02 vs 0.11±0.05, p = 0.04, nl ≤0.03. Small bowel transit time was longer in CFCIR vs CFnoLIV (195±42 min vs 167±68 p<0.001, nl 274 ± 41. Bacteroides were decreased in relative abundance in CFCIR and were associated with lower capsule endoscopy score whereas Clostridium were more abundant in CFCIR and associated with higher capsule endoscopy score.CFCIR is associated with increased intestinal mucosal lesions, slower small bowel transit time and alterations in fecal microbiome. Abnormal intestinal permeability and elevated fecal calprotectin are common in all CF subjects. Disturbances in intestinal function in CF combined with changes in the microbiome may contribute to the development of hepatic fibrosis and intestinal lesions.

  16. Hemoglobin oxygen affinity in patients with cystic fibrosis.

    Directory of Open Access Journals (Sweden)

    Dieter Böning

    Full Text Available In patients with cystic fibrosis lung damages cause arterial hypoxia. As a typical compensatory reaction one might expect changes in oxygen affinity of hemoglobin. Therefore position (standard half saturation pressure P50st and slope (Hill's n of the O2 dissociation curve as well as the Bohr coefficients (BC for CO2 and lactic acid were determined in blood of 14 adult patients (8 males, 6 females and 14 healthy controls (6 males, 8 females. While Hill's n amounted to approximately 2.6 in all subjects, P50st was slightly increased by 1 mmHg in both patient groups (controls male 26.7 ± 0.2, controls female 27.0 ± 0.1, patients male 27.7 ± 0.5, patients female 28.0 ± 0.3 mmHg; mean and standard error, overall p<0.01. Main cause was a rise of 1-2 µmol/g hemoglobin in erythrocytic 2,3-biphosphoglycerate concentration. One patient only, clearly identified as an outlier and with the mutation G551D, showed a reduction of both P50st (24.5 mmHg and [2,3-biphosphoglycerate] (9.8 µmol/g hemoglobin. There were no differences in BCCO2, but small sex differences in the BC for lactic acid in the controls which were not detectable in the patients. Causes for the right shift of the O2 dissociation curve might be hypoxic stimulation of erythrocytic glycolysis and an increased red cell turnover both causing increased [2,3-biphosphoglycerate]. However, for situations with additional hypercapnia as observed in exercising patients a left shift seems to be a more favourable adaptation in cystic fibrosis. Additionally when in vivo PO2 values were corrected to the standard conditions they mostly lay left of the in vitro O2 dissociation curve in both patients and controls. This hints to unknown fugitive factors influencing oxygen affinity.

  17. [Insights into cystic fibrosis-related bone disease].

    Science.gov (United States)

    Braun, C; Bacchetta, J; Reix, P

    2016-08-01

    With the increasing life expectancy of patients with cystic fibrosis (CF), prevalence of late complications such as CF-related bone disease (CFBD) has increased. It was initially described in 24% of the adult population with CF and has also been reported in the pediatric population. CFBD is multifactorial and progresses in different steps. Both decreased bone formation and increased bone resorption (in different amounts) are observed. CFBD is likely primitive (directly related to the CFTR defect itself), but is also worsened by acquired secondary factors such as lung infections, chronic inflammation, denutrition, vitamin deficiency, and decreased physical activity. CFBD may be clinically apparent (i.e., mainly vertebral and costal fractures), or clinically asymptomatic (therefore corresponding to abnormalities in bone density and architecture). CFBD management mainly aims to prevent the occurrence of fractures. Prevention and regular monitoring of bone disease as early as 8 years of age is of the utmost importance, as is the control of possible secondary deleterious CFBD factors. New radiological tools, such as high-resolution peripheral quantitative computed tomography, allow an accurate evaluation of cortical and trabecular bone micro-architecture in addition to compartmental density; as such, they will likely improve the assessment of the bone fracture threat in CF patients in the near future. PMID:27345551

  18. Emergence of respiratory Streptococcus agalactiae isolates in cystic fibrosis patients.

    Directory of Open Access Journals (Sweden)

    Vera Eickel

    Full Text Available Streptococcus agalactiae is a well-known pathogen for neonates and immunocompromized adults. Beyond the neonatal period, S. agalactiae is rarely found in the respiratory tract. During 2002-2008 we noticed S. agalactiae in respiratory secretions of 30/185 (16% of cystic fibrosis (CF patients. The median age of these patients was 3-6 years older than the median age CF patients not harboring S. agalactiae. To analyze, if the S. agalactiae isolates from CF patients were clonal, further characterization of the strains was achieved by capsular serotyping, surface protein determination and multilocus sequence typing (MLST. We found a variety of sequence types (ST among the isolates, which did not substantially differ from the MLST patterns of colonizing strains from Germany. However serotype III, which is often seen in colonizing strains and invasive infections was rare among CF patients. The emergence of S. agalactiae in the respiratory tract of CF patients may represent the adaptation to a novel host environment, supported by the altered surfactant composition in older CF patients.

  19. Fibrose cística em adultos: aspectos clínicos e espirométricos Cystic fibrosis in adults clinical and spirometric aspects

    Directory of Open Access Journals (Sweden)

    Antônio Carlos M. Lemos

    2004-02-01

    Full Text Available INTRODUÇÃO: A fibrose cística é diagnosticada usualmente na infância. No Brasil, poucos estudos abordam seu diagnóstico na idade adulta. OBJETIVO: Descrever as características demográficas, clínicas e os achados de espirometria dos pacientes com fibrose cística diagnosticados na idade adulta, na Bahia (Brasil. MÉTODO: Foram avaliados 28 pacientes com fibrose cística diagnosticada na idade adulta no Centro de Referência de Fibrose Cística do Estado da Bahia. As variáveis de interesse foram: idade, gênero, cor, índice de massa corpórea (IMC, cultivo do escarro, porcentagem do previsto da capacidade vital forçada (% CVF, porcentagem do previsto do volume expiratório forçado no primeiro segundo (% VEF1 e resposta ao broncodilatador. RESULTADOS: A média de idade dos pacientes foi de 31,1±12,4 anos. A proporção de negros e mulatos foi de 53,7%, e a média de IMC foi 18,7±3,0Kg/m2. Em doze pacientes (43% foi confirmada P. aeruginosa no escarro. As médias ±DP dos percentuais do previsto da CVF e do VEF1 foram de 58,9±21,6% e 44,1±23% respectivamente. No grupo colonizado por P. aeruginosa as médias dos parâmetros espirométricos foram inferiores às do grupo não colonizado. Entretanto, somente em relação à CVF esta diferença alcançou significância estatística (p= 0,007. CONCLUSÃO: Concordante com a literatura, este estudo reforça que o diagnóstico de fibrose cística deve ser investigado em pacientes com infecções respiratórias de repetição, sinusite e bronquiectasias, mesmo na idade adulta. Os valores dos percentuais da CVF e VEF1 em relação ao previsto foram menores nos pacientes colonizados por P aeruginosa, evidenciando uma maior deterioração da função pulmonar.INTRODUCTION: Cystic Fibrosis is usually diagnosed in childhood. In Brazil, few studies have approached CF diagnosed in adulthood. OBJECTIVE: The aim of this study was to describe demographic and clinical characteristics and spirometric

  20. Activated MCTC mast cells infiltrate diseased lung areas in cystic fibrosis and idiopathic pulmonary fibrosis

    OpenAIRE

    Andersson, Cecilia K; Andersson Sjöland, Annika; Mori, Michiko; Hallgren, Oskar; Pardo, Annie; Eriksson, Leif; Bjermer, Leif; Löfdahl, Claes-Göran; Selman, Moises; Westergren-Thorsson, Gunilla; Erjefält, Jonas

    2011-01-01

    Background: Although mast cells are regarded as important regulators of inflammation and tissue remodelling, their role in cystic fibrosis (CF) and idiopathic pulmonary fibrosis (IPF) has remained less studied. This study investigates the densities and phenotypes of mast cell populations in multiple lung compartments from patients with CF, IPF and never smoking controls. Methods: Small airways, pulmonary vessels, and lung parenchyma were subjected to detailed immunohistochemical analyses usin...

  1. Animal Models of Cystic Fibrosis Pathology: Phenotypic Parallels and Divergences

    Science.gov (United States)

    McElvaney, Noel G.

    2016-01-01

    Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The resultant characteristic ion transport defect results in decreased mucociliary clearance, bacterial colonisation, and chronic neutrophil-dominated inflammation. Much knowledge surrounding the pathophysiology of the disease has been gained through the generation of animal models, despite inherent limitations in each. The failure of certain mouse models to recapitulate the phenotypic manifestations of human disease has initiated the generation of larger animals in which to study CF, including the pig and the ferret. This review will summarise the basic phenotypes of three animal models and describe the contributions of such animal studies to our current understanding of CF. PMID:27340661

  2. Multifunctional superparamagnetic nanoparticles for enhanced drug transport in cystic fibrosis

    Science.gov (United States)

    Armijo, Leisha M.; Brandt, Yekaterina I.; Rivera, Antonio C.; Cook, Nathaniel C.; Plumley, John B.; Withers, Nathan J.; Kopciuch, Michael; Smolyakov, Gennady A.; Huber, Dale L.; Smyth, Hugh D.; Osinski, Marek

    2012-10-01

    Iron oxide colloidal nanoparticles (ferrofluids) are investigated for application in the treatment of cystic fibrosis lung infections, the leading cause of mortality in cystic fibrosis patients. We investigate the use of iron oxide nanoparticles to increase the effectiveness of administering antibiotics through aerosol inhalation using two mechanisms: directed particle movement in the presence of an inhomogeneous static external magnetic field and magnetic hyperthermia. Magnetic hyperthermia is an effective method for decreasing the viscosity of the mucus and biofilm, thereby enhancing drug, immune cell, and antibody penetration to the affected area. Iron oxide nanoparticles of various sizes and morphologies were synthesized and tested for specific losses (heating power). Nanoparticles in the superparamagnetic to ferromagnetic size range exhibited excellent heating power. Additionally, iron oxide / zinc selenide core/shell nanoparticles were prepared, in order to enable imaging of the iron oxide nanoparticles. We also report on synthesis and characterization of MnSe/ZnSeS alloyed quantum dots.

  3. Cystic Fibrosis-Related Diabetes in Children: An Update.

    Science.gov (United States)

    Kim, Roy J

    2016-09-01

    Cystic fibrosis-related diabetes mellitus (CFRD) is the most common endocrine complication of cystic fibrosis (CF), affecting more than 50% of patients by the 4th decade of life. CFRD is often preceded by worsening pulmonary status and nutritional decline. Treatment of CFRD is associated with improvements in body weight and pulmonary function and a reduction in pulmonary exacerbations. Because of the clinical significance of CFRD, diabetes screening with an oral glucose tolerance test (OGTT) is recommended annually for all patients with CF starting at age 10 years. The OGTT detects CFRD with greater sensitivity than random glucose or hemoglobin A1c testing. The first-line treatment for CFRD is insulin. The use of other treatments such as oral medications remains under study. [Pediatr Ann. 2016;45(9):e321-e326.]. PMID:27622916

  4. Animal Models of Cystic Fibrosis Pathology: Phenotypic Parallels and Divergences

    Directory of Open Access Journals (Sweden)

    Gillian M. Lavelle

    2016-01-01

    Full Text Available Cystic fibrosis (CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR gene. The resultant characteristic ion transport defect results in decreased mucociliary clearance, bacterial colonisation, and chronic neutrophil-dominated inflammation. Much knowledge surrounding the pathophysiology of the disease has been gained through the generation of animal models, despite inherent limitations in each. The failure of certain mouse models to recapitulate the phenotypic manifestations of human disease has initiated the generation of larger animals in which to study CF, including the pig and the ferret. This review will summarise the basic phenotypes of three animal models and describe the contributions of such animal studies to our current understanding of CF.

  5. Glycosylation and the cystic fibrosis transmembrane conductance regulator

    Directory of Open Access Journals (Sweden)

    Glick Mary Catherine

    2001-08-01

    Full Text Available Abstract The cystic fibrosis transmembrane conductance regulator (CFTR has been known for the past 11 years to be a membrane glycoprotein with chloride channel activity. Only recently has the glycosylation of CFTR been examined in detail, by O'Riordan et al in Glycobiology. Using cells that overexpress wild-type (wtCFTR, the presence of polylactosamine was noted on the fully glycosylated form of CFTR. In the present commentary the results of that work are discussed in relation to the glycosylation phenotype of cystic fibrosis (CF, and the cellular localization and processing of ΔF508 CFTR. The significance of the glycosylation will be known when endogenous CFTR from primary human tissue is examined.

  6. Gastric Sarcina organisms in a patient with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Michael A. DiMaio

    2014-09-01

    Full Text Available Sarcina are large Gram positive anaerobic bacteria which grow in recognizable tetrads and octets. Less than 10 cases of human infection with Sarcina have been reported, many of these in the setting of delayed gastric transit. Here, we present the first reported case of gastric Sarcina in a patient with cystic fibrosis, a known cause of gastroparesis. Following a 2 week history of intermittent epigastric pain, endoscopic and histologic examination revealed numerous Sarcina organisms in association with linear gastric ulcerations. Yeast forms morphologically compatible with Candida were also identified. The occurrence of Sarcina in cystic fibrosis further confirms the association of this organism with delayed gastric emptying and suggests a possible predisposition in patients with genetic disorders of chloride ion transport, as one previous report occurred in a patient with congenital chloride diarrhea. Recognition of this unique organism in endoscopic biopsies should prompt several diagnostic considerations.

  7. Neonatal Giant Cell Hepatitis in an Infant with Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    Maedeh Ahmadi

    2009-04-01

    Full Text Available Background: Cystic fibrosis is a hereditary disease of mucus and sweat glands characterized by respiratory infections and pancreatic insufficiency. Case presentation: We describe a girl infant with cholestasis as of the first clinical presentation at the age of 1 month. She developed severe anemia which required transfusion for several times. High level of direct bilirubin, low level of albumin and positive sweat tests were detected in laboratory tests. Histopathology report of liver biopsy indicated giant cell neonatal hepatitis. Conclusion: Although neonatal hepatitis is common cause of neonatal cholestasis, such condition is quite rare in cystic fibrosis, which easily could be misdiagnosed. Early diagnosis and appropriate treatment could prevent further complications of the disease.

  8. Towards the identification of biomarkers for cystic fibrosis by proteomics

    OpenAIRE

    Charro, Nuno Miguel Antunes Garcia, 1983-

    2011-01-01

    The scope of the work presented in this thesis is to provide identification and characterization of proteins that might contribute to the development and/or progression of the pulmonary disease Cystic Fibrosis (CF), aiming to a better understanding on the proteinaceous environment in several biological samples with influence in the disease. The objectives of this work were in accordance with the actual and to-date Portuguese National Health Plan and were developed in the National Institute of...

  9. Cystic Fibrosis%囊性纤维化

    Institute of Scientific and Technical Information of China (English)

    李海潮

    2006-01-01

    囊性纤维化(Cystic Fibrosis,CF)的主要病生理改变为外分泌腺功能紊乱,可引起慢性肺部疾病、胰腺外分泌功能低下以及汗液氯化钠含量增高等特征性病变,好发于白种人.

  10. Impact of respiratory viral infections on cystic fibrosis

    OpenAIRE

    Wat, D

    2003-01-01

    The life expectancy for patients with cystic fibrosis has improved remarkably over the last 20 years. Progressive deterioration of pulmonary function continues despite the aggressive use of antimicrobials. The absence of fever, neutrophilia, and systemic symptoms suggest that during pulmonary exacerbations other non-bacterial factors may have played a part. Some have suggested respiratory viruses as main suspects. So far, few data have illustrated the relationship of respiratory viruses and c...

  11. Outpatient parenteral antimicrobial therapy (OPAT) in patients with cystic fibrosis

    OpenAIRE

    Pedersen, Maya Graham; Jensen-Fangel, Søren; Olesen, Hanne Vebert; Tambe, San deep Prataprao; Petersen, Eskild

    2015-01-01

    Background To determine complications during outpatient parenteral antimicrobial therapy (OPAT) administrated through a peripheral venous line, PICC-line or PORT-A-CATH (PAC). Methods Catheter related complications in patients with cystic fibrosis during OPAT were identified through a retrospective review of patient files supplemented by an interview. Results In 64 treatment episodes with a peripheral venous line, 51 (79.7 %) used bolus injection and 13 (20.3 %) used infusion pump. 27 out of ...

  12. Immunoassay of serum conjugates of cholic acid in cystic fibrosis.

    OpenAIRE

    Davidson, G P; Corey, M; Morad-Hassel, F; Sondheimer, J M; Crozier, D; Forstner, G G

    1980-01-01

    Pre- and post-prandial serum conjugates of cholic acid (SCCA) were measured by radioimmunoassay (RIA) in 83 patients with cystic fibrosis (CF), 14 of whom did not have steatorrhoea, and in 25 controls. Of the CF patients with steatorrhoea, 38% had fasting SCCA levels greater than 3 standard deviations above mean fasting control values, whereas no CF patient without steatorrhoea had elevated fasting SCCA levels. Steatorrhoeic patients with palpable livers had higher pre- and post-prandial SCCA...

  13. Exercise hyperemia and vasoconstrictor responses in humans with cystic fibrosis

    OpenAIRE

    Schrage, William G.; Wilkins, Brad W.; Dean, Vicki L.; Scott, John P.; Henry, Nancy K.; Wylam, Mark E.; Joyner, Michael J.

    2005-01-01

    ATP released from circulating erythrocytes is a potential signal regulating muscle blood flow during exercise (exercise hyperemia), and intravascular ATP appears to blunt sympathetic vasoconstriction during exercise. Erythrocytes from patients with cystic fibrosis (CF) do not release ATP. The goal of the present study was to determine whether increases in forearm blood flow during exercise are blunted in CF patients and whether CF patients exhibit greater vasoconstrictor responsiveness during...

  14. Correlates of prepubertal bone mineral density in cystic fibrosis

    OpenAIRE

    Haslam, R.; Borovnicar, D; Stroud, D.; Strauss, B.; Bines, J

    2001-01-01

    AIM—To examine early factors in bone mineral accretion in cystic fibrosis (CF).
METHODS—In 22 prepubertal children with CF and mild lung disease, the relation between total body bone mineral density (BMD) and measures of body composition, biochemistry, lung function, and physical activity was studied.
RESULTS—There was a non-significant mild reduction in mean total body BMD. No relation was found between BMD and anthropometric indices, fat free soft tissue, degree of lung ...

  15. Lung function from infancy to school age in cystic fibrosis.

    OpenAIRE

    Beardsmore, C S

    1995-01-01

    The aim was to investigate pulmonary mechanics in patients with cystic fibrosis during infancy and again in early childhood to see whether infant tests predicted status at school age. Plethysmographic measurements of thoracic gas volume and airways resistance were made in 29 patients at 6 months and again at 5 years 10 months. Maximum flow at functional residual capacity was measured during infancy for comparison with maximum expiratory flow rates during childhood. While many patients had nor...

  16. Multifocal Scedosporium apiospermum spondylitis in a cystic fibrosis patient.

    Science.gov (United States)

    Guignard, S; Hubert, D; Dupont, B; Anract, P; Alioua, D; Guerini, H; Paugam, A; Dougados, M

    2008-01-01

    We report the first case of multifocal Scedosporium apiospermum spondylitis in a cystic fibrosis patient. The infection, which occurred during voriconazole prophylaxis, disseminated contiguously from the base of the left lung and pleura and spread to vertebrae via the epidural space. S. apiospermum osteoarticular infections are rare, and are difficult to diagnose and cure because of their resistance to anti-fungal drugs. PMID:17567545

  17. Pulmonary Tuberculosis in a Patient with Cystic Fibrosis

    OpenAIRE

    Naveen Patil; Asween Marco; Maria Theresa Montales; Nutan Bhaskar; Penchala Mittadodla; Mukasa, Leonard N.

    2015-01-01

    Context: Mycobacterium tuberculosis (MTB) infection is rarely seen in cystic fibrosis (CF) patients. Case Report: We report a 24-year-old CF patient with fever, cough, hemoptysis, and weight loss of 1week duration prior to admission. Past sputum cultures grew methicillin-resistant Staphylococcus aureus and Pseudomonas aeruginosa. The patient was treated with broad spectrum antibiotics based on previous culture data, but failed to improve. Chest radiograph and computed tomography (CT) chest re...

  18. Neonatal Bartter syndrome associated with ileal atresia and cystic fibrosis

    OpenAIRE

    Akuma, A. O.; Mittal, S K; Sambo, A. A.

    2013-01-01

    A rare case of neonatal Bartter syndrome presenting with severe hyperkalemia is reported in a preterm child born to consanguineous parents. This child also had ileal atresia, and meconium plugs were found at laparotomy. The diagnosis of cystic fibrosis was subsequently made on genetic testing. Despite full intensive care management and surgical interventions, he died of respiratory failure after 70 days. This is the first reported case of such conglomeration of pathologies in a newborn child....

  19. Outcome of Cystic Fibrosis in Patients with Bronchiectasis

    OpenAIRE

    Nemat Bilan; Mitra Agakhani; Mahmood Goldost

    2014-01-01

    Introduction: Bronchiectasis is a common problem in children especially under 5 years. Early diagnosis of disease and its causes could be useful in early treatment and preventing probable complications. This study aimed at evaluating the cystic fibrosis (CF) in patients with  bronchiectasis. Methods: In a cross-sectional study, 374 children with bronchiectasis were studied. The diagnosis was made according to clinical (chronic cough and persistent sputum) and CT scan findings. Demographic fin...

  20. Exacerbations in cystic fibrosis · 1: Epidemiology and pathogenesis

    OpenAIRE

    Goss, Christopher H.; Burns, Jane L.

    2007-01-01

    With the improving survival of patients with cystic fibrosis (CF), the clinical spectrum of this complex multisystem disease continues to evolve. One of the most important clinical events for patients with CF in the course of this disease is an acute pulmonary exacerbation. Clinical and microbial epidemiology studies of CF pulmonary exacerbations continue to provide important insight into the course, prognosis and complications of the disease. This review provides a summary of the pathophysio...

  1. Pulmonary Nocardiosis in an Immunocompetent Patient with Cystic Fibrosis

    OpenAIRE

    Lucy Schoen; Santoro, Jonathan D.; Carlos Milla; Sumit Bhargava

    2015-01-01

    Nocardia spp. are bacteria of low virulence that cause infection classically in immunocompromised hosts with the lungs as the primary site of infection in the majority of cases. Patients with cystic fibrosis have pulmonary disease characterized by frequent and progressive bacterial infections. Reports of Nocardia spp. isolation in CF are rare in the literature and may represent colonization or active infection, the significance and optimal treatment of which are unknown. We report the second ...

  2. Isolation of Pseudomonas cepacia in cystic fibrosis patient

    OpenAIRE

    Elizabeth Andrade Marques; Rosa Maria Carvalho Pinto; Ludma Trotta Dallallana; Elsa Fuchshuber Rodrigues de Oliveira; Italo Suassuna

    1993-01-01

    Pulmonary infection on cystic fibrosis (CF) patients are associated with a limited qualitative number of microorganisms. During the colonization process, Staphylococcus aureus usually preceedes Pseudomonas aeruginosa. This latter is at first non-mucoid, being replaced or associated to a mucoid morphotype which is rare in other diseases. In 1980, Pseudomonas cepacia appeared as an important agent in CF pulmonary infections with a mean frequency of about 6.1% isolations in different parts of th...

  3. Cystic fibrosis heterozygote screening in 5,161 pregnant women.

    OpenAIRE

    Witt, D. R.; Schaefer, C.; Hallam, P.; Wi, S.; Blumberg, B; Fishbach, A.; Holtzman, J.; Kornfeld, S; Lee, R.; Nemzer, L.; Palmer, R.

    1996-01-01

    A screening program for cystic fibrosis (CF) heterozygotes was conducted in a large HMO prenatal population, to evaluate the level of interest among eligible patients, the effectiveness of prescreening education, attitudes toward the screening process, psychological effects, and utilization of prenatal diagnosis and its outcomes. The heterozygote identification rate and frequency of specific CFTR mutations were also assessed. Identified carriers were offered genetic counseling and testing of ...

  4. Genetic determination of exocrine pancreatic function in cystic fibrosis

    OpenAIRE

    Kristidis, P; Bozon, D; Corey, M; Markiewicz, D; Rommens, J; Tsui, L C; Durie, P

    1992-01-01

    We showed elsewhere that the pancreatic function status of cystic fibrosis (CF) patients could be correlated to mutations in the CF transmembrane conductance regulator (CFTR) gene. Although the majority of CF mutations--including the most common, delta F508--strongly correlated with pancreatic insufficiency (PI), approximately 10% of the mutant alleles may confer pancreatic sufficiency (PS). To extend this observation, genomic DNA of 538 CF patients with well-documented pancreatic function st...

  5. Metabolomic analysis of bronchoalveolar lavage fluid from cystic fibrosis patients

    OpenAIRE

    Wolak, Justyna E.; Esther, Charles R.; O’Connell, Thomas M.

    2009-01-01

    Metabolite profiles of bronchoalveolar lavage fluid (BALF) from pediatric patients with cystic fibrosis (CF) were correlated to the degree of airway inflammation using nuclear magnetic resonance spectroscopy-based metabolomics. BALF was collected from 11 children with CF during clinically indicated bronchoscopy. The spectra from BALF with high levels of neutrophilic airway inflammation displayed signals from numerous metabolites, whereas the spectra from subjects with low levels of inflammati...

  6. The Role of Anaerobic Bacteria in Cystic Fibrosis Lung Disease.

    OpenAIRE

    Murray, Michelle

    2014-01-01

    Recurrent bacterial infections in Cystic Fibrosis (CF) are the primary cause for morbidity and mortality in CF. Advancements in second generation sequencing and evolution of the lung microbiome has prompted greater interest in other bacteria present in the lung. Anaerobic bacteria have been one of the most common bacteria found on molecular sequencing, their cause and role is as of yet unknown. In our project, we recruited 450 patients prospectively and followed them at both stable and exacer...

  7. Vitamin K status in young children with cystic fibrosis

    OpenAIRE

    Patrycja Krzyżanowska; Aleksandra Lisowska; Halina Woś; Maria Trawińska-Bartnicka; Lyudmyla Bober; Nataliya Rohovyk; Marta Rachel; Jarosław Walkowiak

    2011-01-01

      Introduction. Cystic fibrosis (CF) patients are at risk of developing vitamin K deficiency. However, there is no clinical data clearly describing vitamin K status in the youngest age group. Therefore, in the present study we aimed to assess body resources of vitamin K in children aged up to 3 years and to correlate vitamin K status with selected clinical factors. Material and methods. The study comprised 52 CF patients receiving and not receiving vitamin K supplementation. In all s...

  8. The Dynamics of Disease Progression in Cystic Fibrosis

    Science.gov (United States)

    Adler, Frederick R.; Liou, Theodore G.

    2016-01-01

    In cystic fibrosis, statistical models have been more successful in predicting mortality than the time course of clinical status. We develop a system of partial differential equations that simultaneously track mortality and patient status, with all model parameters estimated from the extensive and carefully maintained database from the Cystic Fibrosis Foundation. Cystic fibrosis is an autosomal recessive disease that leads to loss of lung function, most commonly assessed using the Forced Expiratory Volume in 1 second (FEV1%). This loss results from inflammation secondary to chronic bacterial infections, particularly Pseudomonas aeruginosa, methicillin-sensitive Staphylococcus aureus (MSSA) and members of the virulent Burkholderia complex. The model tracks FEV1% and carriage of these three bacteria over the course of a patient’s life. Analysis of patient state changes from year to year reveals four feedback loops: a damaging positive feedback loop between P. aeruginosa carriage and lower FEV1%, negative feedback loops between P. aeruginosa and MSSA and between P. aeruginosa and Burkholderia, and a protective positive feedback loop between MSSA carriage and higher FEV1%. The partial differential equations built from this data analysis accurately capture the life-long progression of the disease, quantify the key role of high annual FEV1% variability in reducing survivorship, the relative unimportance of short-term bacterial interactions for long-term survival, and the potential benefits of eradicating the most harmful bacteria. PMID:27248696

  9. Improving care at cystic fibrosis centers through quality improvement.

    Science.gov (United States)

    Kraynack, Nathan C; McBride, John T

    2009-10-01

    Quality improvement (QI) using a clinical microsystems approach provides cystic fibrosis (CF) centers the opportunity to make a significant positive impact on the health of their patients. The availability of center-specific outcomes data and the support of the Cystic Fibrosis Foundation are important advantages for these quality improvement efforts. This article illustrates how the clinical microsystems methodology can improve care delivery and outcomes by describing the gradual application of quality improvement principles over the past 5 years by the CF team at the Lewis Walker Cystic Fibrosis Center at Akron Children's Hospital in Akron, Ohio. Using the example of a project to improve the pulmonary function of the pediatric patients at our center as a framework, we describe the QI process from the initial team-building phase, through the assessment of care processes, standardization of care, and developing a culture of continuous improvement. We outline how enthusiastic commitment from physician leadership, clinical managers and central administration, the availability of coaches, and an appreciation of the importance of measurement, patient involvement, communication, and standardization are critical components for successful process improvement. PMID:19760542

  10. Anaesthesia for parturients with severe cystic fibrosis: a case series.

    LENUS (Irish Health Repository)

    Deighan, M

    2014-02-01

    Cystic fibrosis affects 1 in 1600-2500 live births and is inherited in an autosomal recessive manner. It primarily involves the respiratory, gastrointestinal and reproductive tracts, with impaired clearance of, and obstruction by, increasingly viscous secretions. Severe respiratory disease, diabetes and gastro-oesophageal reflux may result. Improvements in medical management and survival of cystic fibrosis patients means more are committing to pregnancies. Although guidance for anaesthesia in this patient group is available, management and outcome data associated with more severe cases are sparse. Patients with severe cystic fibrosis require multidisciplinary input and should be managed in a tertiary referral centre. Close monitoring of respiratory function and preoperative optimisation during pregnancy are mandatory. The risk of preterm labour and delivery is increased. Pregnancy and delivery can be managed successfully, even in patients with FEV1 <40% predicted. Neuraxial anaesthesia and analgesia should be the technique of choice for delivery. Postoperative care should be carried out in a critical care setting with the provision of postoperative ventilation if necessary.

  11. CFTR and Ca2+ signaling in cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Fabrice eAntigny

    2011-10-01

    Full Text Available Among the diverse physiological functions exerted by calcium signaling in living cells, its role in the regulation of protein biogenesis and trafficking remains incompletely understood. In cystic fibrosis (CF disease the most common CFTR (Cystic Fibrosis Transmembrane conductance Regulator mutation, F508del-CFTR generates a misprocessed protein that is abnormally retained in the endoplasmic reticulum (ER compartment, rapidly degraded by the ubiquitine/proteasome pathway and hence absent at the plasma membrane of CF epithelial cells. Recent studies have demonstrated that intracellular calcium signals consequent to activation of apical G protein-coupled receptors (GPCRs by different agonists are increased in CF airway epithelia. Moreover, the regulation of various intracellular calcium storage compartments, such as ER is also abnormal in CF cells. Although the molecular mechanism to explain this increase remains puzzling in epithelial cells, the F508del-CFTR mutation is proposed to be the origin of abnormal Ca2+ influx linking the calcium signaling to CFTR pathobiology. This article reviews the relationships between CFTR and calcium signaling in the context of the genetic disease cystic fibrosis.

  12. Cystic Fibrosis Gene Therapy in the UK and Elsewhere.

    Science.gov (United States)

    Griesenbach, Uta; Pytel, Kamila M; Alton, Eric W F W

    2015-05-01

    The cystic fibrosis transmembrane conductance regulator (CFTR) gene was identified in 1989. This opened the door for the development of cystic fibrosis (CF) gene therapy, which has been actively pursued for the last 20 years. Although 26 clinical trials involving approximately 450 patients have been carried out, the vast majority of these trials were short and included small numbers of patients; they were not designed to assess clinical benefit, but to establish safety and proof-of-concept for gene transfer using molecular end points such as the detection of recombinant mRNA or correction of the ion transport defect. The only currently published trial designed and powered to assess clinical efficacy (defined as improvement in lung function) administered AAV2-CFTR to the lungs of patients with CF. The U.K. Cystic Fibrosis Gene Therapy Consortium completed, in the autumn of 2014, the first nonviral gene therapy trial designed to answer whether repeated nonviral gene transfer (12 doses over 12 months) can lead to clinical benefit. The demonstration that the molecular defect in CFTR can be corrected with small-molecule drugs, and the success of gene therapy in other monogenic diseases, is boosting interest in CF gene therapy. Developments are discussed here. PMID:25838137

  13. Model of mucociliary clearance in cystic fibrosis lungs.

    Science.gov (United States)

    Kurbatova, P; Bessonov, N; Volpert, V; Tiddens, H A W M; Cornu, C; Nony, P; Caudri, D

    2015-05-01

    Mucus clearance is a primary innate defense mechanism in the human airways. Cystic fibrosis (CF) is a genetic disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CF is characterized by dehydration of airway surface liquid and impaired mucociliary clearance. As a result, microorganisms are not efficiently removed from the airways, and patients experience chronic pulmonary infections and inflammation. We propose a new physiologically based mathematical model of muco-ciliary transport consisting of the two major components of the mucociliary clearance system: (i) periciliary liquid layer (PCL) and (ii) mucus layer. We study mucus clearance under normal conditions and in CF patients. Restoring impaired clearance of airway secretions in one of the major goals of therapy in patients with CF. We consider the action of the aerosolized and inhaled medication dornase alfa, which reduces the viscosity of cystic fibrosis mucus, by selectively cleaving the long DNA strands it contains. The results of the model simulations stress the potential relevance of the location of the drug deposition in the central or peripheral airways. Mucus clearance was increased in case the drug was primarily deposited peripherally, i.e. in the small airways. PMID:25746843

  14. Sputum Glucose and Glycemic Control in Cystic Fibrosis-Related Diabetes: A Cross-Sectional Study

    OpenAIRE

    Van Sambeek, Lindsey; Cowley, Elise S.; Newman, Dianne K.; Kato, Roberta

    2015-01-01

    Cystic fibrosis-related diabetes affects up to half of cystic fibrosis patients and is associated with increased mortality and more frequent pulmonary exacerbations. However, it is unclear to what degree good glycemic control might mitigate these risks and clinical outcomes have not previously been studied in relation to glucose from the lower airways, the site of infection and CF disease progression. We initially hypothesized that diabetic cystic fibrosis patients with glycosylated hemoglobi...

  15. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

    OpenAIRE

    Sosnay, Patrick R.; Siklosi, Karen R; Van Goor, Fredrick; Kaniecki, Kyle; Yu, Haihui; Sharma, Neeraj; Ramalho, Anabela S; Amaral, Margarida D.; Dorfman, Ruslan; Zielenski, Julian; Masica, David L.; Karchin, Rachel; Millen, Linda; Thomas, Philip J.; George P. Patrinos

    2013-01-01

    Allelic heterogeneity in disease-causing genes presents a substantial challenge to the translation of genomic variation to clinical practice. Few of the almost 2,000 variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have empirical evidence that they cause cystic fibrosis. To address this gap, we collected both genotype and phenotype data for 39,696 cystic fibrosis patients in registries and clinics in North America and Europe. Among these patients, 159 CFTR varia...

  16. Cystic fibrosis-related liver disease: a single-center experience

    OpenAIRE

    Paula Catarino Costa; Celeste Canha Barreto; Luisa Pereira; Maria Luisa Lobo; Maria Adília Costa; Ana Isabel Gouveia Lopes

    2011-01-01

    Prospective studies concerning liver disease in pediatric cystic fibrosis patients are scarce. The present study aimed to describe the prevalence and clinical expression of cystic fibrosis - related liver disease, in a cohort of 62 pediatric patients. Descriptive study, resulting from the prospective evaluation, between 1994 and 2009, of 62 pediatric patients (age <18 years) with cystic fibrosis. The follow-up protocol included a clinical assessment every 2 months, liver function tests eve...

  17. Once Daily Dosing of Aminoglycosides in Pediatric Cystic Fibrosis Patients: A Review of the Literature

    OpenAIRE

    Wassil, Sarah K.; Fox, Kristie M.; White, James W.

    2008-01-01

    Patients with cystic fibrosis receive many courses of antibiotic therapy throughout their lifetime. Dosing aminoglycosides once daily has become common practice in many of these individuals. Due to ease of home administration, decreased nursing time, and improved quality of life, this regimen is being increasingly explored in the cystic fibrosis population. Because patients with cystic fibrosis have increased aminoglycoside clearance, once daily dosing may result in a prolonged time during th...

  18. Inflammation and CFTR: Might Neutrophils be the Key in Cystic Fibrosis?

    OpenAIRE

    Witko-Sarsat, V; Sermet-Gaudelus, I; Lenoir, G.; Descamps-Latscha, B

    1999-01-01

    The aim of this hypothesis is to provide new insights into the still unclear mechanisms governing airway inflammation in cystic fibrosis. Although the genetic basis of cystic fibrosis as well as the molecular structure of cystic fibrosis transmembrane regulator (CFTR), the mutated protein which causes the disease, have been well defined, a clear relationship between the genetic defect and the pulmonary pathophysiology, especially chronic infections and neutrophil-dominated airway inflammation...

  19. Pulmonary bacterial pathogens in cystic fibrosis patients and antibiotic therapy: a tool for the health workers

    OpenAIRE

    2008-01-01

    Cystic fibrosis is the most common and best known genetic disease involving a defect in transepithelial Cl- transport by mutations in the CF gene on chromosome 7, which codes for the cystic fibrosis transmembrane conductance regulator protein (CFTR). The most serious symptoms are observed in the lungs, augmenting the risk of bacterial infection. The objective of this review was to describe the bacterial pathogens colonizing patients with cystic fibrosis. A systematic search was conducted usin...

  20. Description and validation of a scoring system for tomosynthesis in pulmonary cystic fibrosis.

    OpenAIRE

    Vult von Steyern, Kristina; Björkman-Burtscher, Isabella; Höglund, Peter; Bozovic, Gracijela; Wiklund, Marie; Geijer, Mats

    2012-01-01

    OBJECTIVES: To design and validate a scoring system for tomosynthesis (digital tomography) in pulmonary cystic fibrosis. METHODS: A scoring system dedicated to tomosynthesis in pulmonary cystic fibrosis was designed. Three radiologists independently scored 88 pairs of radiographs and tomosynthesis examinations of the chest in 60 patients with cystic fibrosis and 7 oncology patients. Radiographs were scored according to the Brasfield scoring system and tomosynthesis examination...

  1. Microvascular Complications in Cystic Fibrosis-Related Diabetes Mellitus: a Case Report.

    OpenAIRE

    Scott AIR; Clarke BE; Healy H; D'Emden M; Bell SC

    2000-01-01

    CONTEXT, The prevalence of cystic fibrosis-related diabetes mellitus is increasing and is associated with increased survival from cystic fibrosis. CASE REPORT, This study describes a case of the premature onset of disabling and widespread microvascular complications resulting from cystic fibrosis-related diabetes mellitus. Previously asymptomatic retinopathy was diagnosed on recognition of diabetic nephropathy. CONCLUSIONS, The treatment of pulmonary exacerbations has become more complex due ...

  2. The Role of Sphingolipids and Ceramide in Pulmonary Inflammation in Cystic Fibrosis

    OpenAIRE

    Becker, Katrin Anne; Riethmüller, Joachim; Zhang, Yang; Gulbins, Erich

    2010-01-01

    Sphingolipids and in particular ceramide have been shown to be critically involved in the response to many receptor-mediated, but also receptor-independent, mainly stress stimuli. Recent studies demonstrate that ceramide plays an important role in the pathogenesis of cystic fibrosis, a hereditary metabolic disorder caused by mutations of the Cystic Fibrosis Transmembrane Conductance Regulator. Patients with cystic fibrosis suffer from chronic pulmonary inflammation and microbial lung infectio...

  3. Secretin pancreozymin stimulation test and confirmation of the diagnosis of cystic fibrosis.

    OpenAIRE

    Wong, L. T.; Turtle, S; Davidson, A. G.

    1982-01-01

    We have studied the secretin-pancreozymin stimulation test of pancreatic function with particular regard to its usefulness in the diagnosis of cystic fibrosis patients without gastrointestinal symptoms. We have compared the test results in 38 control individuals, 14 patients with cystic fibrosis and five other patients with problems affecting pancreatic function. Of the cystic fibrosis patients tested, six had no gastrointestinal symptoms and were shown to have normal or raised output of panc...

  4. Human Amnion Epithelial Cells Induced to Express Functional Cystic Fibrosis Transmembrane Conductance Regulator

    OpenAIRE

    Murphy, Sean V.; Rebecca Lim; Philip Heraud; Marian Cholewa; Mark Le Gros; de Jonge, Martin D.; Howard, Daryl L.; David Paterson; Courtney McDonald; Anthony Atala; Graham Jenkin; Wallace, Euan M

    2012-01-01

    Cystic fibrosis, an autosomal recessive disorder caused by a mutation in a gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), remains a leading cause of childhood respiratory morbidity and mortality. The respiratory consequences of cystic fibrosis include the generation of thick, tenacious mucus that impairs lung clearance, predisposing the individual to repeated and persistent infections, progressive lung damage and shortened lifespan. Currently there is no cure fo...

  5. Microvascular Complications in Cystic Fibrosis-Related Diabetes Mellitus: a Case Report.

    Directory of Open Access Journals (Sweden)

    Scott AIR

    2000-11-01

    Full Text Available CONTEXT, The prevalence of cystic fibrosis-related diabetes mellitus is increasing and is associated with increased survival from cystic fibrosis. CASE REPORT, This study describes a case of the premature onset of disabling and widespread microvascular complications resulting from cystic fibrosis-related diabetes mellitus. Previously asymptomatic retinopathy was diagnosed on recognition of diabetic nephropathy. CONCLUSIONS, The treatment of pulmonary exacerbations has become more complex due to the nephrotoxic potential of intravenous aminoglycoside drugs which are frequently used to control chronic Pseudomonas infection in cystic fibrosis.

  6. Improving performance in the detection and management of cystic fibrosis-related diabetes in the Mountain West Cystic Fibrosis Consortium

    OpenAIRE

    Theodore G Liou; Jensen, Judith L; Allen, Sarah E; Brayshaw, Sara J.; Brown, Mark A; Chatfield, Barbara; Koenig, Joni; McDonald, Catherine; Packer, Kristyn A; Peet, Kimberly; Radford, Peggy; Reineke, Linda M; Otsuka, Kim; Wagener, Jeffrey S.; Young, David

    2016-01-01

    Objective Cystic fibrosis (CF)-related diabetes (CFRD) is associated with increased morbidity and mortality. Improved detection and management may improve outcomes; however, actual practice falls short of published guidelines. We studied efforts to improve CFRD screening and management in the Mountain West CF Consortium (MWCFC). Research design and methods This is a prospective observational cohort study evaluating quality improvement by accredited CF centers in Arizona, Colorado, New Mexico,...

  7. [Cystic Fibrosis Cloud database: An information system for storage and management of clinical and microbiological data of cystic fibrosis patients].

    Science.gov (United States)

    Prieto, Claudia I; Palau, María J; Martina, Pablo; Achiary, Carlos; Achiary, Andrés; Bettiol, Marisa; Montanaro, Patricia; Cazzola, María L; Leguizamón, Mariana; Massillo, Cintia; Figoli, Cecilia; Valeiras, Brenda; Perez, Silvia; Rentería, Fernando; Diez, Graciela; Yantorno, Osvaldo M; Bosch, Alejandra

    2016-01-01

    The epidemiological and clinical management of cystic fibrosis (CF) patients suffering from acute pulmonary exacerbations or chronic lung infections demands continuous updating of medical and microbiological processes associated with the constant evolution of pathogens during host colonization. In order to monitor the dynamics of these processes, it is essential to have expert systems capable of storing and subsequently extracting the information generated from different studies of the patients and microorganisms isolated from them. In this work we have designed and developed an on-line database based on an information system that allows to store, manage and visualize data from clinical studies and microbiological analysis of bacteria obtained from the respiratory tract of patients suffering from cystic fibrosis. The information system, named Cystic Fibrosis Cloud database is available on the http://servoy.infocomsa.com/cfc_database site and is composed of a main database and a web-based interface, which uses Servoy's product architecture based on Java technology. Although the CFC database system can be implemented as a local program for private use in CF centers, it can also be used, updated and shared by different users who can access the stored information in a systematic, practical and safe manner. The implementation of the CFC database could have a significant impact on the monitoring of respiratory infections, the prevention of exacerbations, the detection of emerging organisms, and the adequacy of control strategies for lung infections in CF patients. PMID:26895996

  8. Open randomised prospective comparative multi-centre intervention study of patients with cystic fibrosis and early diagnosed diabetes mellitus

    OpenAIRE

    Ballmann, Manfred; Hubert, Dominique; Assael, Barouk M; Kronfeld, Kai; Honer, Marguerite; Holl, Reinhard W.

    2014-01-01

    Background Diabetes mellitus may be present in patients with cystic fibrosis starting in the second decade of life. The prevalence increases rapidly with increasing age. As life-expectancy increases in cystic fibrosis, cystic fibrosis related diabetes will be diagnosed more frequently in the future. Up to date, no data are available to answer the question if cystic fibrosis related diabetes should always initially be treated by insulin therapy. Missing data regarding oral antidiabetic treatme...

  9. Azithromycin reduces spontaneous and induced inflammation in ΔF508 cystic fibrosis mice

    NARCIS (Netherlands)

    R. Legssyer (Rachida); F. Huaux (François); J. Lebacq (Jean); M. Delos (Monique); E. Marbaix (Etienne); P. Lebecque (Patrick); D. Lison (Dominique); B.J. Scholte (Bob); P. Wallemacq (Pierre); T. Leal (Teresinha)

    2006-01-01

    textabstractBackground: Inflammation plays a critical role in lung disease development and progression in cystic fibrosis. Azithromycin is used for the treatment of cystic fibrosis lung disease, although its mechanisms of action are poorly understood. We tested the hypothesis that azithromycin modul

  10. Early treatment with inhaled antibiotics postpones next occurrence of Achromobacter in cystic fibrosis

    DEFF Research Database (Denmark)

    Wang, Mikala; Ridderberg, W; Hansen, Christine Rønne;

    2013-01-01

    In this nationwide retrospective study, we analysed species distribution, antimicrobial susceptibility and time to next occurrence of Achromobacter in Danish cystic fibrosis (CF) patients from 2000 to 2011.......In this nationwide retrospective study, we analysed species distribution, antimicrobial susceptibility and time to next occurrence of Achromobacter in Danish cystic fibrosis (CF) patients from 2000 to 2011....

  11. Epidemiological evaluation regarding the role of cystic fibrosis as a risk factor for child malnutrition.

    Science.gov (United States)

    Florescu, Laura; Paduraru, Dana Teodora Anton; Mîndru, Dana Elena; Temneanu, Oana Raluea; Petrariu, F D; Matei, Mioara Calipsoana

    2014-01-01

    Cystic fibrosis (CF) is the most common monogenic autosomal recessive disorder with progressive chronic evolution which is potentially lethal. Poor growth is a characteristic of children suffering from cystic fibrosis. A poor nutritional status is an independent risk factor for inadequate survival in cystic fibrosis and is associated with disease complications. The appropriate nutritional management is an important part of the treatment so that the patient with cystic fibrosis can achieve normal growth and development and maintain the best possible health status. A balanced diet supplemented with snacks high in fat and calories is necessary to increase the caloric intake in children with cystic fibrosis. Children with cystic fibrosis have higher caloric needs than healthy children of the same age and sex. Malnutrition in CF is multifactorial. Cystic fibrosis is a complex multisystem disorder affecting mainly the gastrointestinal tract and respiratory system. In the past, malnutrition was an inevitable consequence of disease progression, leading to poor growth, impaired respiratory muscle function, decreased exercise tolerance and immunological impairment. A positive association between body weight and height and survival has been widely reported. The energy requirements of patients with CF vary widely and generally increase with age and disease severity. Cystic fibrosis remains a paediatric disorder which is often underdiagnosed but which, if therapeutically managed properly (by means of drug therapy as well as by appropriate physiotherapy techniques), can lead to improved quality of life and, thus, to a bigger life expectancy. PMID:25076714

  12. Sodium and chlorine concentrations in mixed saliva of healthy and cystic fibrosis children

    International Nuclear Information System (INIS)

    Sodium and chlorine concentrations in mixed saliva were simultaneously measured by neutron activation analysis in nine normal children and in nine patients with cystic fibrosis. Sodium levels showed a significant difference (P < 0.01) between patients and controls. The concentration of chlorine was similar in both the control and the cystic fibrosis groups. (author)

  13. Treatment of pulmonary aspergilloma in cystic fibrosis by percutaneous instillation of amphotericin B via indwelling catheter.

    OpenAIRE

    Ryan, P. J.; Stableforth, D E; Reynolds, J.; Muhdi, K. M.

    1995-01-01

    Pulmonary aspergilloma is a rare complication of cystic fibrosis and is a contraindication to transplantation. The elimination of an aspergilloma in a 24 year old patient with cystic fibrosis by percutaneous instillation of amphotericin B is described, enabling her to be accepted on a lung transplantation programme.

  14. Critical Role of Cystic Fibrosis Transmembrane Conductance Regulation(CFTR)in Female Reproduction

    Institute of Scientific and Technical Information of China (English)

    Hsiao Chang CHAN

    2003-01-01

    @@ Cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP-activated Cl- channel, mutations of which are responsible for defective Cl- and/or HCO-3 secretions seen in cystic fibrosis (CF), a common lethal genetic disease affecting most exocrine glands/organs, including the lungs, intestine, pancreas and reproductive tracts of both sexes.

  15. Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis

    NARCIS (Netherlands)

    Dekkers, Johanna F; Berkers, Gitte; Kruisselbrink, Evelien; Vonk, Annelotte; de Jonge, Hugo R; Janssens, Hettie M; Bronsveld, Inez; van de Graaf, Eduard A; Nieuwenhuis, Edward E S; Houwen, Roderick H J; Vleggaar, Frank P; Escher, Johanna C; de Rijke, Yolanda B; Majoor, Christof J; Heijerman, Harry G M; de Winter-de Groot, Karin M; Clevers, Hans; van der Ent, Cornelis K; Beekman, Jeffrey M

    2016-01-01

    Identifying subjects with cystic fibrosis (CF) who may benefit from cystic fibrosis transmembrane conductance regulator (CFTR)-modulating drugs is time-consuming, costly, and especially challenging for individuals with rare uncharacterized CFTR mutations. We studied CFTR function and responses to tw

  16. Lumacaftor/Ivacaftor: A Review in Cystic Fibrosis.

    Science.gov (United States)

    Deeks, Emma D

    2016-08-01

    Lumacaftor/ivacaftor (Orkambi™) is a fixed-dose tablet containing a corrector (lumacaftor) and potentiator (ivacaftor) of the cystic fibrosis transmembrane conductance regulator (CFTR) and is the first therapy approved to treat the underlying cause of cystic fibrosis in patients (aged ≥12 years) homozygous for the most common CFTR mutation, F508del. Lumacaftor improves the processing of F508del CFTR and its transport to the cell surface, while ivacaftor increases the channel's open probability and transport of chloride. In two 24-week trials in the approved patient population (TRAFFIC and TRANSPORT), lumacaftor 400 mg plus ivacaftor 250 mg, administered every 12 h in combination with standard therapy, was associated with an ≈3 % statistically significant improvement in lung function relative to placebo (as measured by the percent predicted forced expiratory volume in 1 s). Lumacaftor plus ivacaftor did not significantly improve respiratory symptoms, although reduced pulmonary exacerbations to a clinically meaningful extent and, in one trial (TRANSPORT), significantly improved body mass index (BMI). In an ongoing extension of these studies (PROGRESS), lumacaftor plus ivacaftor provided clinical benefit over a further 72 weeks of treatment. Lumacaftor plus ivacaftor had an acceptable tolerability profile, with the most common adverse events being respiratory or gastrointestinal in nature. Thus, lumacaftor/ivacaftor expands the treatment options available for patients with cystic fibrosis homozygous for the F508del-CFTR mutation, although its precise place in clinical practice remains to be determined. PMID:27394157

  17. Gene therapy for the treatment of cystic fibrosis.

    Science.gov (United States)

    Burney, Tabinda J; Davies, Jane C

    2012-01-01

    Gene therapy is being developed as a novel treatment for cystic fibrosis (CF), a condition that has hitherto been widely-researched yet for which no treatment exists that halts the progression of lung disease. Gene therapy involves the transfer of correct copies of cystic fibrosis transmembrane conductance regulator (CFTR) DNA to the epithelial cells in the airways. The cloning of the CFTR gene in 1989 led to proof-of-principle studies of CFTR gene transfer in vitro and in animal models. The earliest clinical trials in CF patients were conducted in 1993 and used viral and non-viral gene transfer agents in both the nasal and bronchial airway epithelium. To date, studies have focused largely on molecular or bioelectric (chloride secretion) outcome measures, many demonstrating evidence of CFTR expression, but few have attempted to achieve clinical efficacy. As CF is a lifelong disease, turnover of the airway epithelium necessitates repeat administration. To date, this has been difficult to achieve with viral gene transfer agents due to host recognition leading to loss of expression. The UK Cystic Fibrosis Gene Therapy Consortium (Imperial College London, University of Edinburgh and University of Oxford) is currently working on a large and ambitious program to establish the clinical benefits of CF gene therapy. Wave 1, which has reached the clinic, uses a non-viral vector. A single-dose safety trial is nearing completion and a multi-dose clinical trial is shortly due to start; this will be powered for clinically-relevant changes. Wave 2, more futuristically, will look at the potential of lentiviruses, which have long-lasting expression. This review will summarize the current status of translational research in CF gene therapy. PMID:23776378

  18. Hepatocellular carcinoma complicating cystic fibrosis related liver disease.

    LENUS (Irish Health Repository)

    O'Donnell, D H

    2012-02-01

    Early diagnosis and treatment of the respiratory and gastrointestinal complications of cystic fibrosis (CF) have led to improved survival with many patients living beyond the fourth decade. Along with this increased life expectancy is the risk of further disease associated with the chronic manifestations of their condition. We report a patient with documented CF related liver disease for which he was under routine surveillance that presented with histologically proven hepatocellular carcinoma (HCC). It is important that physicians are aware of this association as increased vigilance may lead to earlier diagnosis and perhaps, a better outcome.

  19. Imaging from cystic fibrosis; Bildgebung bei zystischer Fibrose

    Energy Technology Data Exchange (ETDEWEB)

    Schmidt, H. [Frankfurt Univ. (Germany). Funktionsbereich Paediatrische Radiologie; Posselt, H.G. [Frankfurt Univ. (Germany). Zentrum fuer Paediatrische Gastroenterologie und Mukoviszidose

    2008-06-15

    Cystic fibrosis (CF) is the most frequent metabolic disorder with autosomal recessive inheritance in the Caucasian population. The gene defect is located on the long arm of chromosome 7. In Germany today, the actual median survival is 37 years. The genetic defect caused by chloride anion disturbances affects multiple body systems but the morbidity and mortality is due to lung disease. The secretion of highly viscous mucus promotes viral and bacterial pulmonary infections leading to airway obstruction and consecutive destruction of the lung parenchyma. This article will review and discuss both the clinical aspects of the disease and the diagnostic methods, referring in particular to new imaging strategies. (orig.)

  20. Jejunoileal atresia and cystic fibrosis: don’t miss it

    OpenAIRE

    Siersma Carolien L; Rottier Bart L; Hulscher Jan BF; Bouman Katelijne; van Stuijvenberg Margriet

    2012-01-01

    Abstract Background While an increased prevalence of cystic fibrosis (CF) in patients with jejunal atresia and ileal atresia (JIA) has been described previously, it still may not be a practice routine to indicate a sweat test or DNA test for CFTR mutations in newborns presenting with JIA. Leading textbooks do not mention JIA as a possible presenting clinical feature of CF. We describe two cases of JIA with a delayed diagnosis of CF (4 months [post mortem] and 19 months). This led to a retrosp...

  1. Nasal Potential Difference in Cystic Fibrosis considering Severe CFTR Mutations

    OpenAIRE

    2015-01-01

    The gold standard for diagnosing cystic fibrosis (CF) is a sweat chloride value above 60 mEq/L. However, this historical and important tool has limitations; other techniques should be studied, including the nasal potential difference (NPD) test. CFTR gene sequencing can identify CFTR mutations, but this method is time-consuming and too expensive to be used in all CF centers. The present study compared CF patients with two classes I-III CFTR mutations (10 patients) (G1), CF patients with class...

  2. State of progress in treating cystic fibrosis respiratory disease

    Directory of Open Access Journals (Sweden)

    Flume Patrick A

    2012-08-01

    Full Text Available Abstract Since the discovery of the gene associated with cystic fibrosis (CF, there has been tremendous progress in the care of patients with this disease. New therapies have entered the market and are part of the standard treatment of patients with CF, and have been associated with marked improvement in survival. Now there are even more promising therapies directed at different components of the pathophysiology of this disease. In this review, our current knowledge of the pathophysiology of lung disease in patients with CF is described, along with the current treatment of CF lung disease, and the therapies in development that offer great promise to our patients.

  3. Taking stock of gene therapy for cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Alton Eric WFW

    2000-09-01

    Full Text Available Abstract The identification of the cystic fibrosis (CF gene opened the way for gene therapy. In the ten years since then, proof of principle in vitro and then in animal models in vivo has been followed by numerous clinical studies using both viral and non-viral vectors to transfer normal copies of the gene to the lungs and noses of CF patients. A wealth of data have emerged from these studies, reflecting enormous progress and also helping to focus and define key difficulties that remain unresolved. Gene therapy for CF remains the most promising possibility for curative rather than symptomatic therapy.

  4. [National French guidelines for management of infants with cystic fibrosis].

    Science.gov (United States)

    Sermet-Gaudelus, I; Couderc, L; Vrielynck, S; Brouard, J; Weiss, L; Wizla, N; Llerena, C; Lebourgeois, M; Bailly, C; Dirou, A; Renouil, M; Dalphin, M-L; Rault, G; Munck, A; Roussey, M

    2014-06-01

    These guidelines aim to standardize the care of infants diagnosed with a typical form of cystic fibrosis (CF) at neonatal screening. They have been implemented by the National Working Group for Neonatal Screening of the French Federation for CF and have been validated using the Delphi methodology by a large group of clinicians involved in the care of CF infants. These guidelines encompass management and organization of care at diagnosis and describe nutritional, digestive, and respiratory monitoring and treatment during the first 2 years of life. PMID:24815598

  5. Life-threatening systemic symptoms in a cystic fibrosis patient

    OpenAIRE

    Gohy, Sophie; Froidure, Antoine; Lebecque, Patrick; ECFS

    2014-01-01

    Case report A 20-year-old male patient with cystic fibrosis (CF) (F508del/F508del, last FEV1: 92% predicted) was admitted for the sudden occurrence of high-grade fever, FEV1 drop (72% predicted) without increased cough, malaise, diffuse pain and generalized lymphadenopathies. Initial check-up revealed the presence of very recent bilateral hilar lymphadenopathies along with a marked inflammatory syndrome (WBC: 35,680/µl, neutrophils: 28,220/µl, CRP: 163mg/L). Within 24 hours, the patient devel...

  6. Gastrointestinal, Pancreatic, and Hepatobiliary Manifestations of Cystic Fibrosis.

    Science.gov (United States)

    Sathe, Meghana Nitin; Freeman, Alvin Jay

    2016-08-01

    Pulmonary disease is the primary cause of morbidity and mortality in people with cystic fibrosis (CF), but significant involvement within gastrointestinal, pancreatic, and hepatobiliary systems occurs as well. As in the airways, defects in CFTR alter epithelial surface fluid, mucus viscosity, and pH, increasing risk of stasis through the various hollow epithelial-lined structures of the gastrointestinal tract. This exerts secondary influences that are responsible for most gastrointestinal, pancreatic, and hepatobiliary manifestations of CF. Understanding these gastrointestinal morbidities of CF is essential in understanding and treating CF as a multisystem disease process and improving overall patient care. PMID:27469182

  7. Developing a handheld record for patients with cystic fibrosis

    Science.gov (United States)

    Narayan, Omendra; Davies, Siobhan; Tibbins, Carly; Rees, JH Martyn; Lenney, Warren; Gilchrist, Francis J

    2015-01-01

    Patient handheld records (PHHRs) promote self-management and empower the holder to take a more active role in the management of their disease. They have been used successfully in improving preventative care for children and have contributed to improved adherence in a number of chronic illnesses. Despite the potential advantages, there are no standard PHHRs for patients with cystic fibrosis (CF). We report the consultation process that led to the development of a CF PHHR, describe the final document, and analyze the feedback from their use at our center. We have made the CF PHHR freely available online. PMID:26316833

  8. Gene therapy for the treatment of cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Burney TJ

    2012-05-01

    Full Text Available Tabinda J Burney1,2, Jane C Davies1,2,31Department of Gene therapy, Imperial College London, 2UK CF Gene Therapy Consortium London, 3Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Foundation Trust, London, UKAbstract: Gene therapy is being developed as a novel treatment for cystic fibrosis (CF, a condition that has hitherto been widely-researched yet for which no treatment exists that halts the progression of lung disease. Gene therapy involves the transfer of correct copies of cystic fibrosis transmembrane conductance regulator (CFTR DNA to the epithelial cells in the airways. The cloning of the CFTR gene in 1989 led to proof-of-principle studies of CFTR gene transfer in vitro and in animal models. The earliest clinical trials in CF patients were conducted in 1993 and used viral and non-viral gene transfer agents in both the nasal and bronchial airway epithelium. To date, studies have focused largely on molecular or bioelectric (chloride secretion outcome measures, many demonstrating evidence of CFTR expression, but few have attempted to achieve clinical efficacy. As CF is a lifelong disease, turnover of the airway epithelium necessitates repeat administration. To date, this has been difficult to achieve with viral gene transfer agents due to host recognition leading to loss of expression. The UK Cystic Fibrosis Gene Therapy Consortium (Imperial College London, University of Edinburgh and University of Oxford is currently working on a large and ambitious program to establish the clinical benefits of CF gene therapy. Wave 1, which has reached the clinic, uses a non-viral vector. A single-dose safety trial is nearing completion and a multi-dose clinical trial is shortly due to start; this will be powered for clinically-relevant changes. Wave 2, more futuristically, will look at the potential of lentiviruses, which have long-lasting expression. This review will summarize the current status of translational

  9. Maintenance of nutritional status in patients with cystic fibrosis: new and emerging therapies

    Directory of Open Access Journals (Sweden)

    Kalnins D

    2012-06-01

    Full Text Available Daina Kalnins,1 Michael Wilschanski21Clinical Dietetics, Respiratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada; 2Pediatric Gastroenterology Unit, Hadassah University Hospitals, Jerusalem, IsraelAbstract: Poor clinical outcomes in cystic fibrosis are often associated with undernutrition. Normal growth and development should be achieved in cystic fibrosis, and nutritional counseling is paramount at all ages. Prevention and early detection of growth failure is the key to successful nutritional intervention. The advance in nutritional management is certainly one factor that has contributed to the improved survival in recent decades. This review outlines the major nutritional parameters in the management of the patient with cystic fibrosis, including recent advances in pancreatic enzyme replacement therapy and fat-soluble vitamin therapy. There are sections on complicated clinical situations which directly affect nutrition, for example, before and after lung transplantation, cystic fibrosis-related diabetes, and bone health.Keywords: cystic fibrosis, nutrition, fat-soluble vitamins, pancreatic enzymes

  10. Health Human Resources Guidelines: Minimum Staffing Standards and Role Descriptions for Canadian Cystic Fibrosis Healthcare Teams

    Directory of Open Access Journals (Sweden)

    Ian D. McIntosh

    2016-01-01

    Full Text Available In cystic fibrosis clinics across Canada, the most common barrier that healthcare workers face when providing care to their patients is having too little time. The Health Human Resources Guidelines were developed to define specifically what amounts of time should be allocated for each discipline of cystic fibrosis clinical care and to provide a description of all the roles involved, reinforcing how these work together to provide comprehensive multidisciplinary care. With involvement from all cystic fibrosis clinics in Canada, through the use of a tailored survey, the Health Human Resources Guidelines are an exclusively Canadian document that has been developed for implementation across the country. The guidelines have been incorporated into a national Accreditation Site Visit program for use in evaluating and improving care across the country and have been distributed to all Canadian cystic fibrosis clinics. The guidelines provide hospital administrators with clear benchmarks for allocating personnel resources to the cystic fibrosis clinics hosted within their institutions.

  11. Antioxidant supplementation for lung disease in cystic fibrosis

    DEFF Research Database (Denmark)

    Ciofu, Oana; Lykkesfeldt, Jens

    2014-01-01

    Fibrosis Trials Register: 29 August 2013. SELECTION CRITERIA: Randomized controlled studies and quasi-randomized controlled studies of people with cystic fibrosis comparing antioxidants as listed above (individually or in combination) in more than a single administration to placebo or standard care. DATA...... COLLECTION AND ANALYSIS: Two authors independently selected studies, extracted data and assessed the risk of bias in the included studies. We contacted trial investigators to obtain missing information. Primary outcomes are lung function and quality of life; secondary outcomes are oxidative stress......, inflammation, nutritional status, days on antibiotics and adverse events during supplementation. If meta-analysed, studies were subgrouped according to method of administration and the duration of supplementation. MAIN RESULTS: One quasi-randomized and nine randomized controlled studies were included, with a...

  12. Key findings of the US Cystic Fibrosis Foundation's clinical practice benchmarking project.

    Science.gov (United States)

    Boyle, Michael P; Sabadosa, Kathryn A; Quinton, Hebe B; Marshall, Bruce C; Schechter, Michael S

    2014-04-01

    Benchmarking is the process of using outcome data to identify high-performing centres and determine practices associated with their outstanding performance. The US Cystic Fibrosis Foundation (CFF) Patient Registry contains centre-specific outcomes data for all CFF-certified paediatric and adult cystic fibrosis (CF) care programmes in the USA. The CFF benchmarking project analysed these registry data, adjusting for differences in patient case mix known to influence outcomes, and identified the top-performing US paediatric and adult CF care programmes for pulmonary and nutritional outcomes. Separate multidisciplinary paediatric and adult benchmarking teams each visited 10 CF care programmes, five in the top quintile for pulmonary outcomes and five in the top quintile for nutritional outcomes. Key practice patterns and approaches present in both paediatric and adult programmes with outstanding clinical outcomes were identified and could be summarised as systems, attitudes, practices, patient/family empowerment and projects. These included: (1) the presence of strong leadership and a well-functioning care team working with a systematic approach to providing consistent care; (2) high expectations for outcomes among providers and families; (3) early and aggressive management of clinical declines, avoiding reliance on 'rescues'; and (4) patients/families that were engaged, empowered and well informed on disease management and its rationale. In summary, assessment of practice patterns at CF care centres with top-quintile pulmonary and nutritional outcomes provides insight into characteristic practices that may aid in optimising patient outcomes. PMID:24608546

  13. Effect of selective phosphodiesterase 4 inhibitor,rolipram, on cytokine and gelatinase B (MMP-9) release in the whole blood from adult patients with cystic fibrosis.

    Institute of Scientific and Technical Information of China (English)

    JouneauSTEPHANE; BelleguicCHANTAL; EpinceALEXANDRAD; BrinchaultORAZIELLA; DesruesBENOIT; CamusCHRISTOPHE; MichelROUSSEY; LagenteVINCENT; CorinneAEMartin-CHOULY

    2004-01-01

    AIM: Inflammation plays a critical role in lung disease progression in cystic fibrosis being able to be associated with the development of tissue remodeling. These processes are mainly due to pro-inflammatory cytokines release and to an imbalance between proteases and antiproteases involving matrix metalloproteinases (MMP). Phosphodiesterase 4 (PDE4) inhibitors, by elevating intracellular cAMP, are known to be potent inhibitors of

  14. Correlation between HRCT and pulmonary functional tests in cystic fibrosis

    International Nuclear Information System (INIS)

    Purpose. To compare the HRCT score by Oikonottlou and air trapping in expiratory scans with pulmonary functional tests and evaluate which radiological criteria are more useful to predict clinical impairment. Materials and methods. From January to September 2003, pulmonary HRCT study was performed in 37 patients (23 males), aged between 7 and 41 years, with cystic fibrosis. In the same day of CT examination they also received a complete functional evaluation. HRCT studies were evaluated by three radiologists blinded to the clinical data and were correlated with the lung function tests. Results. We obtained a high correlation (p=0.01) for two of the HRCT signs: extent of mucus plugging and mosaic perfusion pattern and all function tests. Discussion. Previous studies have demonstrated good correlation between lung function tests, in particular with FEV1 and HRCT signs. Our study differed from previous ones in that we analysed the correlation between lung function tests and with both single and combined CT criteria. Conclusion. Our results suggest that a simplified HRCT store could be useful to evaluate patients with cystic fibrosis

  15. Fungi in the cystic fibrosis lung: bystanders or pathogens?

    Science.gov (United States)

    Chotirmall, Sanjay H; McElvaney, Noel G

    2014-07-01

    Improvement to the life expectancy of people with cystic fibrosis (PWCF) brings about novel challenges including the need for evaluation of the role of fungi in the cystic fibrosis (CF) lung. To determine if such organisms represent bystanders or pathogens affecting clinical outcomes we review the existing knowledge from a clinical, biochemical, inflammatory and immunological perspective. The prevalence and importance of fungi in the CF airway has likely been underestimated with the most frequently isolated filamentous fungi being Aspergillus fumigatus and Scedosporium apiospermum and the major yeast Candida albicans. Developing non-culture based microbiological methods for fungal detection has improved both our classification and understanding of their clinical consequences including localized, allergic and systemic infections. Cross-kingdom interaction between bacteria and fungi are discussed as is the role of biofilms further affecting clinical outcome. A combination of host and pathogen-derived factors determines if a particular fungus represents a commensal, colonizer or pathogen in the setting of CF. The underlying immune state, disease severity and treatment burden represent key host variables whilst fungal type, form, chronicity and virulence including the ability to evade immune recognition determines the pathogenic potential of a specific fungus at a particular point in time. Further research in this emerging field is warranted to fully elucidate the spectrum of disease conferred by the presence of fungi in the CF airway and the indications for therapeutic interventions. PMID:24625547

  16. Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess

    Directory of Open Access Journals (Sweden)

    Khalid Zahraldin

    2015-01-01

    Full Text Available Cystic fibrosis (CF and apparent mineralocorticoid excess (AME syndrome are both autosomal recessive disorders that result from mutations of specific identified genes for each condition. CF is caused by defects in the Cystic fibrosis trans membrane conductance regulator (CFTR gene which encodes for a protein that functions as a chloride channel and regulates the flow of other ions across the apical surface of epithelial cells. AME is due to the deficiency of 11β-hydroxysteroid dehydrogenase type 2 enzyme (11βHSD2, which is responsible for the peripheral inactivation of cortisol to cortisone. Cortisol excess stimulates the mineralocoritoid receptors (MR resulting in intense sodium retention, hypokalemia and hypertension. We report on a consanguineous Arab family, in which two sibs inherited both CF and AME. Gene testing for AME revealed previously unreported mutation in the 11βHSD2 gene. This report draws attention to the importance of recognizing the possibility of two recessive disorders in the same child in complex consanguineous families. Moreover, it provides a unique opportunity to highlight the implications of the coexistence of two genetic disorders on patient care and genetic counseling of the family.

  17. Developing a handheld record for patients with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Narayan O

    2015-08-01

    Full Text Available Omendra Narayan,1 Siobhan Davies,1 Carly Tibbins,2 JH Martyn Rees,3 Warren Lenney,1,4 Francis J Gilchrist1,4 1Academic Department of Child Health, Royal Stoke University Hospital, Stoke-on-Trent, 2West Midlands Medicines for Children Research Network, Royal Stoke University Hospital, Stoke-on-Trent, 3Department of Paediatrics, Royal Shrewsbury Hospital, Shrewsbury, 4Institute for Science and Technology in Medicine, Keele University, Guy Hilton Research Centre, Stoke-on-Trent, UK Abstract: Patient handheld records (PHHRs promote self-management and empower the holder to take a more active role in the management of their disease. They have been used successfully in improving preventative care for children and have contributed to improved adherence in a number of chronic illnesses. Despite the potential advantages, there are no standard PHHRs for patients with cystic fibrosis (CF. We report the consultation process that led to the development of a CF PHHR, describe the final document, and analyze the feedback from their use at our center. We have made the CF PHHR freely available online.Keywords: cystic fibrosis, pediatrics, patient and public involvement, patient handheld records

  18. Evidence of Inhaled Tobramycin in Non-Cystic Fibrosis Bronchiectasis

    Science.gov (United States)

    Vendrell, Montserrat; Muñoz, Gerard; de Gracia, Javier

    2015-01-01

    There is currently less experience with inhaled tobramycin in non-cystic fibrosis bronchiectasis than in cystic fibrosis (CF). Intravenous formulation and solution for inhalation (TSI) have been studied in non-CF bronchiectasis patients with chronic P. aeruginosa bronchial infection. An improvement in clinical parameters and a reduction in bacterial density have been shown with both inhaled solutions in these patients. However, further trials are needed to determine the most effective dose and administration protocol in these patients. Based on the current evidence, recommendations cannot be made regarding the use of TSI to treat exacerbations. Although no systemic toxicity has been reported in studies specifically investigating this treatment, patients with known kidney disease or ear disorders should be treated with caution. Adverse respiratory effects are reported to be more common in non-CF patients than in CF patients, who tend to be non-smokers and younger. Research is being conducted into the possibility of combining tobramycin with other antibiotics to increase its antibacterial activity. In this review we will present and discuss the published evidence regarding the use of inhaled tobramycin in non–CF bronchiectasis. PMID:25893022

  19. A Metagenomic approach to characterize temperate bacteriophage populations from cystic fibrosis and non-cystic fibrosis bronchiectasis patients

    Directory of Open Access Journals (Sweden)

    Mohammad Adnan Tariq

    2015-02-01

    Full Text Available Pseudomonas aeruginosa (Pa, normally a soil commensal, is an important opportunistic pathogen in Cystic Fibrosis (CF and non-Cystic Fibrosis Bronchiectasis (nCFBR. Persistent infection correlates with accelerated decline in lung function and early mortality. The horizontal transfer of DNA by temperate bacteriophages can add gene function and selective advantages to their bacterial host within the constrained environment of the lower lung. In this study, we chemically induce temperate bacteriophages from clonal cultures of Pa and identify their mixed viral communities employing metagenomic approaches. We compared 92 temperate phage metagenomes stratified from these clinical backgrounds (47 CF and 45 nCFBR Pa isolates using MG-RAST and GeneWise2. KEGG analysis shows the complexity of temperate phage accessory gene carriage increases with duration and severity of the disease. Furthermore we identify the presence of Ig-like motifs within phage structural genes linked to bacterial adhesion and carbohydrate binding including Big_2, He_Pig and Fn3. This study provides the first clinical support to the proposed bacteriophage adherence to mucus (BAM model and the evolution of phages interacting at these mucosal surfaces over time.

  20. A metagenomic approach to characterize temperate bacteriophage populations from Cystic Fibrosis and non-Cystic Fibrosis bronchiectasis patients.

    Science.gov (United States)

    Tariq, Mohammad A; Everest, Francesca L C; Cowley, Lauren A; De Soyza, Anthony; Holt, Giles S; Bridge, Simon H; Perry, Audrey; Perry, John D; Bourke, Stephen J; Cummings, Stephen P; Lanyon, Clare V; Barr, Jeremy J; Smith, Darren L

    2015-01-01

    Pseudomonas aeruginosa (Pa), normally a soil commensal, is an important opportunistic pathogen in Cystic Fibrosis (CF) and non-Cystic Fibrosis Bronchiectasis (nCFBR). Persistent infection correlates with accelerated decline in lung function and early mortality. The horizontal transfer of DNA by temperate bacteriophages can add gene function and selective advantages to their bacterial host within the constrained environment of the lower lung. In this study, we chemically induce temperate bacteriophages from clonal cultures of Pa and identify their mixed viral communities employing metagenomic approaches. We compared 92 temperate phage metagenomes stratified from these clinical backgrounds (47 CF and 45 nCFBR Pa isolates) using MG-RAST and GeneWise2. KEGG analysis shows the complexity of temperate phage accessory gene carriage increases with duration and severity of the disease. Furthermore, we identify the presence of Ig-like motifs within phage structural genes linked to bacterial adhesion and carbohydrate binding including Big_2, He_Pig, and Fn3. This study provides the first clinical support to the proposed bacteriophage adherence to mucus (BAM) model and the evolution of phages interacting at these mucosal surfaces over time. PMID:25741327

  1. Dysregulated proinflammatory and fibrogenic phenotype of fibroblasts in cystic fibrosis.

    Directory of Open Access Journals (Sweden)

    François Huaux

    Full Text Available Morbi-mortality in cystic fibrosis (CF is mainly related to chronic lung infection and inflammation, uncontrolled tissue rearrangements and fibrosis, and yet the underlying mechanisms remain largely unknown. We evaluated inflammatory and fibrosis responses to bleomycin in F508del homozygous and wild-type mice, and phenotype of fibroblasts explanted from mouse lungs and skin. The effect of vardenafil, a cGMP-specific phosphodiesterase type 5 inhibitor, was tested in vivo and in culture. Responses of proinflammatory and fibrotic markers to bleomycin were enhanced in lungs and skin of CF mice and were prevented by treatment with vardenafil. Purified lung and skin fibroblasts from CF mice proliferated and differentiated into myofibroblasts more prominently and displayed higher sensitivity to growth factors than those recovered from wild-type littermates. Under inflammatory stimulation, mRNA and protein expression of proinflammatory mediators were higher in CF than in wild-type fibroblasts, in which CFTR expression reached similar levels to those observed in other non-epithelial cells, such as macrophages. Increased proinflammatory responses in CF fibroblasts were reduced by half with submicromolar concentrations of vardenafil. Proinflammatory and fibrogenic functions of fibroblasts are upregulated in CF and are reduced by vardenafil. This study provides compelling new support for targeting cGMP signaling pathway in CF pharmacotherapy.

  2. Rapid detection and immune characterization of Mycobacterium abscessus infection in cystic fibrosis patients.

    Directory of Open Access Journals (Sweden)

    Mathis Steindor

    Full Text Available Cystic fibrosis patients are highly susceptible to infections with non-tuberculous mycobacteria. Especially Mycobacterium abscessus infections are common but reliable diagnosis is hampered by non-specific clinical symptoms and insensitive mycobacterial culture. In the present study we established novel methods for rapid detection and immune characterization of Mycobacterium abscessus infection in cystic fibrosis patients. We performed Mycobacterium abscessus specific DNA-strip- and quantitative PCR-based analyses of non-cultured sputum samples to detect and characterize Mycobacterium abscessus infections. Concomitantly in vitro T-cell reactivation with purified protein derivatives (PPDs from different mycobacterial species was used to determine Mycobacterium abscessus specific T-cell cytokine expression of infected cystic fibrosis patients. Four of 35 cystic fibrosis patients (11.4% were Mycobacterium abscessus culture positive and showed concordant DNA-strip-test results. Quantitative PCR revealed marked differences of mycobacterial burden between cystic fibrosis patients and during disease course. Tandem-repeat analysis classified distinct Mycobacterium abscessus strains of infected cystic fibrosis patients and excluded patient-to-patient transmission. Mycobacterium abscessus specific T-cells were detected in the blood of cystic fibrosis patients with confirmed chronic infection and a subgroup of patients without evidence of Mycobacterium abscessus infection. Comparison of cytokine expression and phenotypic markers revealed increased proportions of CD40L positive T-cells that lack Interleukin-2 expression as a marker for chronic Mycobacterium abscessus infections in cystic fibrosis patients. Direct sputum examination enabled rapid diagnosis and quantification of Mycobacterium abscessus in cystic fibrosis patients. T-cell in vitro reactivation and cytokine expression analyses may contribute to diagnosis of chronic Mycobacterium abscessus

  3. Blunted perception of neural respiratory drive and breathlessness in patients with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Charles C. Reilly

    2016-03-01

    Full Text Available The electromyogram recorded from the diaphragm (EMGdi and parasternal intercostal muscle using surface electrodes (sEMGpara provides a measure of neural respiratory drive (NRD, the magnitude of which reflects lung disease severity in stable cystic fibrosis. The aim of this study was to explore perception of NRD and breathlessness in both healthy individuals and patients with cystic fibrosis. Given chronic respiratory loading and increased NRD in cystic fibrosis, often in the absence of breathlessness at rest, we hypothesised that patients with cystic fibrosis would be able to tolerate higher levels of NRD for a given level of breathlessness compared to healthy individuals during exercise. 15 cystic fibrosis patients (mean forced expiratory volume in 1 s (FEV1 53.5% predicted and 15 age-matched, healthy controls were studied. Spirometry was measured in all subjects and lung volumes measured in the cystic fibrosis patients. EMGdi and sEMGpara were recorded at rest and during incremental cycle exercise to exhaustion and expressed as a percentage of maximum (% max obtained from maximum respiratory manoeuvres. Borg breathlessness scores were recorded at rest and during each minute of exercise. EMGdi % max and sEMGpara % max and associated Borg breathlessness scores differed significantly between healthy subjects and cystic fibrosis patients at rest and during exercise. The relationship between EMGdi % max and sEMGpara % max and Borg score was shifted to the right in the cystic fibrosis patients, such that at comparable levels of EMGdi % max and sEMGpara % max the cystic fibrosis patients reported significantly lower Borg breathlessness scores compared to the healthy individuals. At Borg score 1 (clinically significant increase in breathlessness from baseline corresponding levels of EMGdi % max (20.2±12% versus 32.15±15%, p=0.02 and sEMGpara % max (18.9±8% versus 29.2±15%, p=0.04 were lower in the healthy individuals compared to the cystic

  4. Poly Thymidine Polymorphism and Cystic Fibrosis in a Non-Caucasian Population

    OpenAIRE

    Reza Tabaripour; Haleh Akhavan Niaki; Mohammad Reza Esmaeeli Douki; Javad Tavakkoly Bazzaz; Bagher Larijani; Parichehr Yaghmaei

    2012-01-01

    Background: Cystic fibrosis is a monogenic recessive disorder found predominantly in Caucasian population. This disease arises from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In this study we consider poly T polymorphism c.1210-12T[5], c.1210-12T[7], c.1210-12T[9] (T5, T7, T9) in the intron 8 of CFTR gene in normal individuals and cystic fibrosis patients in the north of Iran. Material and methods: 40 CF patients and 40 normal individuals were screened f...

  5. Radiologic findings of cystic fibrosis in a Korean child at follow up study: case report

    International Nuclear Information System (INIS)

    Cystic fibrosis is a hereditary disease involving recessive transmission. The fundamental abnormality consists of the production of abnormal secretion from a variety of exocrine glands such as salivary and sweat glands and those of the pancreas, colon, and tracheobronchial trees. Cystic fibrosis is the most common lethal genetically transmitted disease among whites, but is uncommon in Asians, including Koreans. Although a case involving a Korean was reported in 1988, the focus was diagnosis rather than the radiological findings. In the case of cystic fibrosis we now describe, the focus is inverted: we emphasise the reported in 1988, focusing on radiologic findings

  6. Serum interleukin-1 alpha and soluble interleukin-2 receptor concentrations in cystic fibrosis.

    OpenAIRE

    Greally, P; Hussain, M J; Vergani, D.; Price, J F

    1993-01-01

    Interleukin (IL)-1 and IL-2 may participate in the systemic inflammatory response and hypergammaglobulinaemia observed in patients with cystic fibrosis. Thirty seven patients with cystic fibrosis were compared with 25 normal controls. High IgG and IgM concentrations were associated with more severe pulmonary disease. IL-1 alpha and soluble IL-2 receptor concentrations were higher in the cystic fibrosis group than in the controls and also correlated with concentrations of IgG and IgM. These re...

  7. Lumbar disc herniation in three patients with cystic fibrosis: a case series

    OpenAIRE

    Gruebl Armin; Spaeth Manfred; Steinborn Marc; Wurmser Harald; Vogl-Voswinckel Anna E; Denne Christian; Burdach Stefan

    2011-01-01

    Abstract Introduction To date, lumbar disc herniation has not been reported in the context of cystic fibrosis even though back pain and musculoskeletal problems are very common in patients with cystic fibrosis. Case presentation We report on three patients with cystic fibrosis who experienced lumbar disc herniation in the course of their disease at ages 19 to 21 years (a 22-year-old Caucasian man, a 23-year-old Caucasian man, and a 21-year-old Caucasian woman). Our third patient eventually di...

  8. Toll-like receptors as therapeutic targets in cystic fibrosis.

    LENUS (Irish Health Repository)

    Greene, Catherine M

    2008-12-01

    Background: Toll-like receptors (TLRs) are pattern recognition receptors that act as a first-line of defence in the innate immune response by recognising and responding to conserved molecular patterns in microbial factors and endogenous danger signals. Cystic fibrosis (CF)-affected airways represent a milieu potentially rich in TLR agonists and the chronic inflammatory phenotype evident in CF airway epithelial cells is probably due in large part to activation of TLRs. Objective\\/methods: To examine the prospects of developing novel therapies for CF by targeting TLRs. We outline the expression and function of TLRs and explore the therapeutic potential of naturally-occurring and synthetic TLR inhibitors for CF. Results\\/conclusion: Modulation of TLRs has therapeutic potential for the inflammatory lung manifestations of CF.

  9. The cystic fibrosis neutrophil: a specialized yet potentially defective cell.

    LENUS (Irish Health Repository)

    Hayes, Elaine

    2011-04-01

    Cystic fibrosis (CF) is one of the commonest genetically inherited diseases in the world. It is characterized by recurrent respiratory tract infections eventually leading to respiratory failure. One of the hallmarks of this disease is a persistent and predominantly neutrophil driven inflammation. Neutrophils provide the first line of defence by killing and digesting phagocytosed bacteria and fungi, yet despite advances in our understanding of the molecular and cellular basis of CF, there remains a paradox of why recruited CF neutrophils fail to eradicate bacterial infections in the lung. This review describes mechanisms involved in neutrophil migration, microbial killing and apoptosis leading to inflammatory resolution. We discuss dysregulated neutrophil activity and consider genetic versus inflammatory neutrophil reprogramming in CF and ultimately pharmacological modulation of the CF neutrophil for therapeutic intervention.

  10. A Roadmap to the Brittle Bones of Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    Ashwini P. Gore

    2011-01-01

    Full Text Available Cystic fibrosis (CF is an autosomal recessive disorder which despite advances in medical care continues to be a life-limiting and often fatal disease. With increase in life expectancy of the CF population, bone disease has emerged as a common complication. Unlike the osteoporosis seen in postmenopausal population, bone disease in CF begins at a young age and is associated with significant morbidity due to fractures, kyphosis, increased pain, and decreased lung function. The maintenance of bone health is essential for the CF population during their lives to prevent pain and fractures but also as they approach lung transplantation since severe bone disease can lead to exclusion from lung transplantation. Early recognition, prevention, and treatment are key to maintaining optimal bone health in CF patients and often require a multidisciplinary approach. This article will review the pathophysiology, current clinical practice guidelines, and potential future therapies for treating CF-related bone disease.

  11. Tuberculosis reinfection in a pregnant cystic fibrosis patient

    Directory of Open Access Journals (Sweden)

    Asween Marco

    2015-01-01

    Full Text Available Cystic Fibrosis (CF is a multisystem disease predominantly affecting the airways and predisposing patients to recurrent infections with various multidrug resistant organisms. Mycobacterium tuberculosis (MTB infection is rarely seen, but considered a potential pathogen in CF patients. We report a 26 year old pregnant CF patient on Ivacaftor who was admitted with symptoms suggestive of tuberculosis. Three years prior to the current admission, she had completed four drug anti- MTB therapy for pulmonary tuberculosis and was considered cured as her sputum cultures after six months of treatment were negative. Genotype analysis revealed the current MTB strain to be different from the strain causing the previous infection. After receiving first line anti-tuberculous regimen for nine months, the patient's condition markedly improved culminating in an uneventful pregnancy and delivery. To our knowledge, this is the only reported case of reinfection tuberculosis in a CF patient.

  12. Lifestyle treatments in cystic fibrosis: The NHS should pay.

    Science.gov (United States)

    Ketchell, Robert Ian

    2016-08-01

    With the NHS under increasing financial pressure and healthcare costs soaring year on year, it is perhaps not surprising that assessment agencies focus on cost-effectiveness analysis when assessing new therapies. Such an approach does not however, always take sufficient account of treatment burden, lifestyle and patient choice and therefore new equally effective but perhaps "easier to take" formulations and faster delivery systems for current therapies do not always take precedence in current treatment guidelines. In arguing that the NHS should pay for so-called lifestyle treatments in cystic fibrosis the counterintuitive nature of some of the current decision making is discussed and a more holistic approach to improve NHS efficiency is presented. PMID:27373763

  13. Pulmonary tuberculosis in a patient with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Naveen Patil

    2015-01-01

    Full Text Available Context: Mycobacterium tuberculosis (MTB infection is rarely seen in cystic fibrosis (CF patients. Case Report: We report a 24-year-old CF patient with fever, cough, hemoptysis, and weight loss of 1week duration prior to admission. Past sputum cultures grew methicillin-resistant Staphylococcus aureus and Pseudomonas aeruginosa. The patient was treated with broad spectrum antibiotics based on previous culture data, but failed to improve. Chest radiograph and computed tomography (CT chest revealed chronic collapse of the anterior subsegment of right upper lobe and multiple bilateral cavitary lesions which were worse compared to prior films. MTB was suspected and was confirmed by positive acid-fast bacilli (AFB smears and cultures. After receiving first-line antituberculous drugs, the patient′s condition markedly improved. Conclusion: MTB is an infrequent finding, but considered a potential pathogen in CF patients, and may lead to serious pulmonary complications if there is a delay in diagnosis and treatment.

  14. Gastrointestinal transit times and motility in patients with cystic fibrosis

    DEFF Research Database (Denmark)

    Hedsund, Caroline; Gregersen, Tine; Jønsson, Iben;

    2012-01-01

    AND METHODS: Ten CF patients (five women, median age 23) with pancreatic insufficiency were studied. Total gastrointestinal transit time (GITT) and segmental colonic transit times (SCTT) were assessed by radiopaque markers. Gastric emptying and small intestinal transit were evaluated using the magnet......OBJECTIVE: Patients with cystic fibrosis (CF) often suffer from gastrointestinal (GI) dysfunction including obstructive symptoms, malabsorption and pain, but the underlying pathophysiology remains obscure. AIM: To compare GI motility and transit times in CF patients and healthy controls. MATERIAL......-based motility tracking system (MTS-1). With each method patients were compared with 16 healthy controls. RESULTS: Basic contraction frequencies of the stomach and small intestine were normal, but the pill reached the cecum after 7 h in only 20% of CF patients while in 88% of controls (p = 0.001). Paradoxically...

  15. The cystic fibrosis neutrophil: a specialized yet potentially defective cell.

    LENUS (Irish Health Repository)

    Hayes, Elaine

    2012-02-01

    Cystic fibrosis (CF) is one of the commonest genetically inherited diseases in the world. It is characterized by recurrent respiratory tract infections eventually leading to respiratory failure. One of the hallmarks of this disease is a persistent and predominantly neutrophil driven inflammation. Neutrophils provide the first line of defence by killing and digesting phagocytosed bacteria and fungi, yet despite advances in our understanding of the molecular and cellular basis of CF, there remains a paradox of why recruited CF neutrophils fail to eradicate bacterial infections in the lung. This review describes mechanisms involved in neutrophil migration, microbial killing and apoptosis leading to inflammatory resolution. We discuss dysregulated neutrophil activity and consider genetic versus inflammatory neutrophil reprogramming in CF and ultimately pharmacological modulation of the CF neutrophil for therapeutic intervention.

  16. Mucus Distribution Model in a Lung with Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    Sara Zarei

    2012-01-01

    Full Text Available Cystic fibrosis (CF is the most common autosomal recessive disease in Caucasians with a reported incidence of 1 in every 3200 live births. Most strikingly, CF is associated with early mortality. Host in flammatory responses result in airway mucus plugging, airway wall edema, and eventual destruction of airway wall support structure. Despite aggressive treatment, the median age of survival is approximately 38 years. This work is the first attempt to parameterize the distributions of mucus in a CF lung as a function of time. By default, the model makes arbitrary choices at each stage of the construction process, whereby the simplest choice is made. The model is sophisticated enough to fit the average CF patients' spirometric data over time and to identify several interesting parameters: probability of colonization, mucus volume growth rate, and scarring rate. Extensions of the model appropriate for describing the dynamics of single patient MRI data are also discussed.

  17. Mucoid impaction presenting as multiple pulmonary nodules in cystic fibrosis

    International Nuclear Information System (INIS)

    Mucoid impaction has been described as a complication of asthma and more commonly in patients with allergic bronchopulmonary aspergillosis. In such cases, the impacted pools of mucus may present as discrete nodules on chest X-ray and hence simulate the appearance of metastatic malignancy. A case of mucoid impaction presenting as multiple pulmonary nodules in a patient with cystic fibrosis is described. The chest X-ray showed hyperinfiltration and scattered changes consistent with bronchiectasis. Computed tomography scan confirmed these and additional intra-pulmonary nodular densities. This report illustrates that mucus impaction as a cause of pulmonary nodules should be considered in any patient with chronic lung disease characterised by excess mucus production. 6 refs., 3 figs

  18. High resolution CT in children with cystic fibrosis

    International Nuclear Information System (INIS)

    High resolution CT (HRCT) was performed in 24 children (median age 57.9 months) suffering from cystic fibrosis (CF). In 23 patients (one examination unacceptable because of motion artifacts) the most frequent finding was bronchial wall thickening, shown in 21 patients (91%), followed by bronchiectasis in 15 patients (65%). Less frequent findings were mucus plugging and patchy consolidations, which could be demonstrated in 11 patients each (48%). Findings were classified using a CT scoring system and including only irreversible pulmonary changes; a statistically significant correlation with lung function tests could be established. HRCT to date seems to be the most valuable method to determine extent and severity of lung involvement in children with CF and should therefore be routinely used for the staging of this disease. (orig.)

  19. Catamenial Hemoptysis and Pneumothoraces in a Patient with Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    Chris M Parker

    2007-01-01

    Full Text Available Hemoptysis or pneumothorax that recurs with the onset of menses is strongly suggestive of thoracic endometriosis syndrome (TES. TES is a rare disorder, with relatively few cases reported in the literature. A 32-year-old woman with cystic fibrosis, who over a period of several months had experienced recurrent catamenial hemoptysis and pneumothoraces, including an episode of life-threatening hemoptysis that coincided with menstruation, is presented. Thoracic computed tomography and magnetic resonance imaging scans, as well as a bronchosopic evaluation that demonstrated endobronchial lesions that disappeared after menses, support the diagnosis of TES in the present patient. The patient was treated empirically with danazol and subsequently underwent a successful double-lung transplantation. Danazol was discontinued postoperatively, and she was started on an oral contraceptive. Eighteen months post-transplant, she has not experienced a recurrence of her catamenial symptoms, despite having resumed a regular menstrual cycle.

  20. Dictamine Stimulates Cystic Fibrosis Transmembrane Conductance Regulator Cl- Transport

    Institute of Scientific and Technical Information of China (English)

    LIU Jun; YANG Hong; LIU Li-dan; WANG Su-mei; XU Li-na; YU Bo; LIN Sen; HOU Shu-guang; ZHOU Na; JIN Ling-ling

    2007-01-01

    Dictamine is a furoquinoline alkaloid isolated from Dictamus dasycarpus Turcz. In the present study, we found that dictamine is able to stimulate the chloride transport activity of wild-type and △F508 mutant CFTR. The activity is cAMP-dependent and can be completely reversed by specific CFTR inhibitor CFTRinh-172. In addition, dictamine can further increase the chloride transport activity when CFTR is maximally activated by the combination of cAMP stimulators forskolin(FSK) and IBMX, suggesting direct interaction of dictamine with CFTR. Dictamine may be useful for probing CFTR channel gating mechanisms and used as a lead compound to develop the pharmacological therapy of CFTR-related diseases such as idiopathic chronic pancreatitis and keratoconjunctivitis sicca and cystic fibrosis.

  1. Computed tomography dose optimisation in cystic fibrosis: A review.

    LENUS (Irish Health Repository)

    Ferris, Helena

    2016-04-28

    Cystic fibrosis (CF) is the most common autosomal recessive disease of the Caucasian population worldwide, with respiratory disease remaining the most relevant source of morbidity and mortality. Computed tomography (CT) is frequently used for monitoring disease complications and progression. Over the last fifteen years there has been a six-fold increase in the use of CT, which has lead to a growing concern in relation to cumulative radiation exposure. The challenge to the medical profession is to identify dose reduction strategies that meet acceptable image quality, but fulfil the requirements of a diagnostic quality CT. Dose-optimisation, particularly in CT, is essential as it reduces the chances of patients receiving cumulative radiation doses in excess of 100 mSv, a dose deemed significant by the United Nations Scientific Committee on the Effects of Atomic Radiation. This review article explores the current trends in imaging in CF with particular emphasis on new developments in dose optimisation.

  2. Cumulative radiation exposure in children with cystic fibrosis.

    LENUS (Irish Health Repository)

    O'Reilly, R

    2010-02-01

    This retrospective study calculated the cumulative radiation dose for children with cystic fibrosis (CF) attending a tertiary CF centre. Information on 77 children with a mean age of 9.5 years, a follow up time of 658 person years and 1757 studies including 1485 chest radiographs, 215 abdominal radiographs and 57 computed tomography (CT) scans, of which 51 were thoracic CT scans, were analysed. The average cumulative radiation dose was 6.2 (0.04-25) mSv per CF patient. Cumulative radiation dose increased with increasing age and number of CT scans and was greater in children who presented with meconium ileus. No correlation was identified between cumulative radiation dose and either lung function or patient microbiology cultures. Radiation carries a risk of malignancy and children are particularly susceptible. Every effort must be made to avoid unnecessary radiation exposure in these patients whose life expectancy is increasing.

  3. Patient and parent perceptions of the diagnosis and management of cystic fibrosis-related diabetes

    OpenAIRE

    Kate Millington; Victoria Miller; Rubenstein, Ronald C.; Andrea Kelly

    2014-01-01

    Background: Cystic Fibrosis Related Diabetes (CFRD) is an increasingly common complication in CF. CFRD introduces an additional complex chronic disease to individuals already attending to demanding treatment regimens. An improved understanding of the reaction to and coping mechanisms surrounding CFRD may facilitate management of CFRD. Methods: Semi-structured interviews completed by 10 children with CFRD, 10 adults with CFRD and 10 parents of children with CFRD in a single large CF Care Ce...

  4. Enteric coated microspheres of pancreatin in the treatment of cystic fibrosis: comparison with a standard enteric coated preparation.

    OpenAIRE

    Stead, R J; Skypala, I; Hodson, M.E.; Batten, J C

    1987-01-01

    In an open, randomised crossover study enteric coated microspheres of pancreatin were compared with a standard preparation of enteric coated pancreatin over two consecutive 28 day treatment periods in 23 adults with steatorrhoea due to cystic fibrosis. Lipase intake was equal to the patients' previous requirements and was the same during the two months. Patients performed 72 hour faecal collections at the end of each month and completed diary cards daily throughout. Comparison of the month of...

  5. In vitro antimicrobial susceptibility of single and mixed populations in cystic fibrosis: the role of novel microorganisms

    OpenAIRE

    Lopes, Susana Patrícia; Ceri, H.; Azevedo, N. F.; Pereira, Maria Olívia

    2011-01-01

    Pseudomonas aeruginosa is the dominant pathogen associated with bacterial infections occurring in Cystic Fibrosis (CF) patients, resulting in 80% of mortality in adults. However, pulmonary infection has recently been defined as polymicrobial, involving classical and other unusual bacteria, which may play a crucial role when associated with the conventional ones. This work aims to evaluate the susceptibility patterns of mono and dual-species biofilms encompassing traditional and emerging micro...

  6. MRI in mucoviscidosis (cystic fibrosis); MRT bei Mukoviszidose

    Energy Technology Data Exchange (ETDEWEB)

    Eichinger, M.; Puderbach, M.; Kauczor, H.-U. [Deutsches Krebsforschungszentrum (DKFZ), Abteilung Radiologie, Heidelberg (Germany); Heussel, C.-P. [Universitaetsklinikum Mainz (Germany). Klinik und Poliklinik fuer Radiologie

    2006-04-15

    Cystic fibrosis (CF) is a multi-systemic disease with major impact on the lungs. Pulmonary manifestation is crucial for the prognosis and life expectancy of patients. Imaging modalities and lung function tests reflect the pulmonary status in these patients. The standard imaging modality for diagnosis and follow-up of pulmonary changes is chest x-ray. The gold standard for the detection of parenchymal lung changes remains high resolution computed tomography (HRCT), but this is not used routinely for CF-patients due to radiation exposure. Magnetic resonance imaging (MRI) used to be of no importance in monitoring cystic fibrosis lung disease, as shown in studies from the 1980s and early 1990s. The continuing improvement of MRI techniques, however, has allowed for an adequate application of this non-radiation method in diagnosing the major pulmonary findings in CF, in addition to the assessment of lung function. (orig.) [German] Die Lunge ist Hauptmanifestationsort der Mukoviszidose (zystischen Fibrose, CF) und entscheidend fuer Prognose und Lebenserwartung der Betroffenen. Bildgebende Verfahren spielen in der Diagnostik und Verlaufsbeurteilung der Lungenveraenderungen sowie dem Monitoring pulmonaler Komplikationen bei zystischer Fibrose eine wichtige Rolle. Obwohl die hochaufloesende Computertomographie (HRCT) als Goldstandard zur Beurteilung morphologischer Lungenveraenderungen bei zystischer Fibrose gilt, ist die Roentgenthoraxaufnahme aufgrund der geringeren Strahlenbelastung bei den meist jungen Patienten das derzeit eingesetzte Standardverfahren zur Diagnostik und Verlaufsbeurteilung. Die Magnetresonanztomographie (MRT) spielte bislang in der Diagnostik und Verlaufsbeobachtung der zystischen Fibrose keine Rolle, da Arbeiten aus den 80er und fruehen 90er Jahren keinen sinnvollen Beitrag der MRT zeigen konnten. Durch die kontinuierliche Verbesserung der Technik ist es seit neuestem erstmals moeglich, die MRT als Alternative fuer die Lungenbildgebung bei zystischer

  7. Mast cells and gastrointestinal dysmotility in the cystic fibrosis mouse.

    Directory of Open Access Journals (Sweden)

    Robert C De Lisle

    Full Text Available BACKGROUND: Cystic fibrosis (CF has many effects on the gastrointestinal tract and a common problem in this disease is poor nutrition. In the CF mouse there is an innate immune response with a large influx of mast cells into the muscularis externa of the small intestine and gastrointestinal dysmotility. The aim of this study was to evaluate the potential role of mast cells in gastrointestinal dysmotility using the CF mouse (Cftr(tm1UNC, Cftr knockout. METHODOLOGY: Wild type (WT and CF mice were treated for 3 weeks with mast cell stabilizing drugs (ketotifen, cromolyn, doxantrazole or were treated acutely with a mast cell activator (compound 48/80. Gastrointestinal transit was measured using gavage of a fluorescent tracer. RESULTS: In CF mice gastric emptying at 20 min post-gavage did not differ from WT, but was significantly less than in WT at 90 min post-gavage. Gastric emptying was significantly increased in WT mice by doxantrazole, but none of the mast cell stabilizers had any significant effect on gastric emptying in CF mice. Mast cell activation significantly enhanced gastric emptying in WT mice but not in CF mice. Small intestinal transit was significantly less in CF mice as compared to WT. Of the mast cell stabilizers, only doxantrazole significantly affected small intestinal transit in WT mice and none had any effect in CF mice. Mast cell activation resulted in a small but significant increase in small intestinal transit in CF mice but not WT mice. CONCLUSIONS: The results indicate that mast cells are not involved in gastrointestinal dysmotility but their activation can stimulate small intestinal transit in cystic fibrosis.

  8. Cystic Fibrosis James Lind Alliance Priority Setting Partnership PROTOCOL [5 February 2016

    OpenAIRE

    Smyth, Alan R; Rowbotham, Nicola J.; McPhee, Margaret; Smith, Sherie

    2016-01-01

    The purpose of this protocol is to set out the aims, objectives and commitments of the Cystic Fibrosis Priority Setting Partnership (PSP) and the basic roles and responsibilities of the partners therein.

  9. Inflammation in Achromobacter xylosoxidans infected cystic fibrosis patients

    DEFF Research Database (Denmark)

    Hansen, C. R.; Pressler, T.; Nielsen, K. G.;

    2010-01-01

    BACKGROUND: Achromobacter xylosoxidans infection may cause conspicuous chronic pulmonary inflammation in cystic fibrosis (CF) patients similar to Pseudomonas aeruginosa and the Burkholderia cepacia complex (Bcc). Evolution in lung function was compared in chronically infected patients. Cytokine...

  10. Parenting adolescents with cystic fibrosis: an interpretive description of the adolescent point of view

    DEFF Research Database (Denmark)

    Bregnballe, Vibeke; Schiøtz, Peter Oluf; Lomborg, Kirsten

    2011-01-01

    Background: Decreases in disease-related physiological and quality of life parameters are often seen in adolescents with cystic fibrosis. The aim of this study was to identify the types of parental support that adolescents with cystic fibrosis find helpful in terms of preventing these decreases....... Methods: Sixteen Danish adolescents with cystic fibrosis, aged 14 to 25, participated in the study. Two focus group interviews were carried out, one for 14- to 18- year-olds and one for 19- to 25-year-olds. Individual interviews were conducted with three subjects. Using interpretive description strategy...... the adolescents’ medical treatment. Conclusion: Parenting an adolescent with cystic fibrosis is a challenge, and the adolescents felt that their parents need to learn skills to help the adolescents better manage their disease. These findings indicate that health professionals may need to educate...

  11. Viral and atypical bacterial infections in the outpatient pediatric cystic fibrosis clinic

    DEFF Research Database (Denmark)

    Olesen, Hanne Vebert; Nielsen, Lars P; Schiotz, Peter Oluf

    2006-01-01

    BACKGROUND: Respiratory viral and atypical bacterial infections are associated with pulmonary exacerbations and hospitalisations in cystic fibrosis patients. We wanted to study the impact of such infections on children attending the outpatient clinic. METHODS: Seventy-five children were followed...

  12. Cystic Fibrosis James Lind Alliance Priority Setting Partnership PROTOCOL [updated 13 July 2016

    OpenAIRE

    Smyth, Alan R; Rowbotham, Nicola J.; McPhee, Margaret; Smith, Sherie

    2016-01-01

    The purpose of this protocol is to set out the aims, objectives and commitments of the Cystic Fibrosis Priority Setting Partnership (PSP) and the basic roles and responsibilities of the partners therein.

  13. Molecular detection of an atypical, highly resistant, clonal Pseudomonas aeruginosa isolate in cystic fibrosis patients.

    LENUS (Irish Health Repository)

    Keating, Deirdre

    2013-03-01

    The identification of Pseudomonas aeruginosa (P. aeruginosa) isolates in sputum from cystic fibrosis (CF) patients can be challenging due to the multitude of phenotypic changes isolates undergo during adaptation to the microenvironment of the CF lung.

  14. Sodium and chlorine levels in hair and nails of healthy and cystic fibrosis children

    International Nuclear Information System (INIS)

    Sodium and chlorine values are reported in μ/g, as determined by neutron activation analysis in washed hair and nails from healthy and cystic fibrosis children. The values thus determined in cystic fibrosis tended to be higher than those in controls, however statistical differences were not significant (p>0.01). Additional experiments were carried out for comparison between washed and unwashed samples of the cystic fibrosis and control group and only the differences between washed and unwashed cystic fibrosis nails were significant (p<0.01) in both sodium and chlorine values. Analysis of a standard reference milk sample, A-11 from IAEA, for the elements mentioned above gave a good agreement with the certified values. (author) 24 refs.; 6 figs.; 2 tabs

  15. Classifying Severity of Cystic Fibrosis Lung Disease Using Longitudinal Pulmonary Function Data

    OpenAIRE

    Schluchter, Mark D.; Konstan, Michael W.; Drumm, Mitchell L.; Yankaskas, James R.; Knowles, Michael R.

    2006-01-01

    Rationale: The study of genetic modifiers in cystic fibrosis (CF) lung disease requires rigorous phenotyping. One type of genetic association study design compares polymorphisms in patients at extremes of phenotype, requiring accurate classification of pulmonary disease at varying ages.

  16. Preferential reduction of quadriceps over respiratory muscle strength and bulk after lung transplantation for cystic fibrosis

    OpenAIRE

    Pinet, C; Scillia, P; Cassart, M; Lamotte, M; Knoop, C.; Melot, C; Estenne, M.

    2004-01-01

    Background: In the absence of complications, recipients of lung transplants for cystic fibrosis have normal pulmonary function but the impact of the procedure on the strength and bulk of respiratory and limb muscles has not been studied.

  17. Improvement of nutrient absorption may enhance systemic oxidative stress in cystic fibrosis patients

    Directory of Open Access Journals (Sweden)

    Galina V. Shmarina

    2001-01-01

    Full Text Available Background: The life expectancy of patients with cystic fibrosis (CF is largely dependent on the pulmonary disease severity and progress. Malnutrition may be an important complicating factor in active and chronic lung disease.

  18. Rnaseq As A Method To Study Microbial Interactions Arising In The Cystic Fibrosis Airways

    DEFF Research Database (Denmark)

    Amador Hierro, Cristina Isabel; Jelsbak, Lars

    Introduction: In previous studies from our laboratory, a Pseudomonas aeruginosa lineage, named DK2, has been identified and characterized as highly successful, transmissible and persistent over four decades in cystic fibrosis (CF) patients. This lineage underwent substantial phenotypic and geneti...

  19. Iron accumulates in the lavage and explanted lungs of cystic fibrosis patients.

    Science.gov (United States)

    Abstract Oxidative stress participates in the pathophysiology of cystic fibrosis (CF). An underlying disruption in iron homeostasis can frequently be demonstrated in injuries and diseases associated with an oxidative stress. We tested the hypothesis that iron accumulation and ...

  20. Steady Advances Against Cystic Fibrosis | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... being active in sports. Photo: Boomer Esiason Foundation Fast Facts Cystic fibrosis (CF) is a genetic disease ... 2; his parents launched a foundation to raise money for CF research and to support the CF ...

  1. A pilot study comparing two physiotherapy techniques in patietnts with cystic fibrosis

    OpenAIRE

    S. M. Milne; C. J. Eales

    2004-01-01

    The flutter is a simple hand held device designed to facilitate the mobilisation of excess bronchial secretions by means of oscillating positive pressure. Traditionally patients at the Johannesburg Hospital Cystic Fibrosis clinic used the active cycle of breathing technique as a means of facilitating secretion mobilisation and clearance. When the flutter became available in South Africa in 1999 many cystic fibrosis patients wanted to change to this technique. Minimal research has been conduct...

  2. Effect of chest physiotherapy on oxygen saturation in patients with cystic fibrosis.

    OpenAIRE

    Pryor, J A; Webber, B. A.; Hodson, M E

    1990-01-01

    Decreasing arterial oxygen saturation has been reported in patients with cystic fibrosis during postural drainage when this was combined with other manoeuvres, which did not, however, include thoracic expansion exercises or pauses for relaxation and breathing control. When these features were included in an active cycle of breathing techniques during postural drainage in 20 patients with cystic fibrosis there was no fall in arterial oxygen saturation during the procedure (mean values 87.1%, 8...

  3. Cystic fibrosis and Crohn’s disease:Successful treatment and long term remission with infliximab

    Institute of Scientific and Technical Information of China (English)

    Francesca; Vincenzi; Barbara; Bizzarri; Alessia; Ghiselli; Nicola; de; Angelis; Fabiola; Fornaroli; Gian; Luigi; de; Angelis

    2010-01-01

    The association of cystic fibrosis and Crohn's disease (CD) is well known, but to date, there are very few cas-es in the literature of patients suffering from mucovisci-dosis who have required treatment with infliximab. We report the case of a 23-year-old patient suffering from cystic fibrosis and severe CD treated successfully with infliximab without any infective complications or wors-ening of the pulmonary disease and with a long term (2 years) complete remission.

  4. Individualized unsupervised exercise programs and chest physiotherapy in children with cystic fibrosis

    OpenAIRE

    Bogdan ALMĂJAN-GUȚĂ; Ornela CLUCI; Alexandra RUSU; Oana CIUCA

    2013-01-01

    Traditionally, physiotherapy for cystic fibrosis focused mainly on airway clearance (clearing mucus from the lungs). This still makes up a large part of daily treatment, but the role of the physiotherapist in cystic fibrosis has expanded to include daily exercise, inhalation therapy, posture awareness and, for some, the management of urinary incontinence. The purpose of this study is to demonstrate the necessity and the efficiency of various methods of chest physiotherapy and individualized u...

  5. Progress toward generating a ferret model of cystic fibrosis by somatic cell nuclear transfer

    OpenAIRE

    Engelhardt John F; Li Ziyi

    2003-01-01

    Abstract Mammalian cloning by nuclear transfer from somatic cells has created new opportunities to generate animal models of genetic diseases in species other than mice. Although genetic mouse models play a critical role in basic and applied research for numerous diseases, often mouse models do not adequately reproduce the human disease phenotype. Cystic fibrosis (CF) is one such disease. Targeted ablation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in mice does not...

  6. Relationship between functional and X-ray alterations in patients with cystic fibrosis

    OpenAIRE

    Fernandes Andréia Kist; Mallmann Felipe; John Ângela Beatriz; Faccin Carlo Sasso; Dalcin Paulo de Tarso Roth; Barreto Sérgio Saldanha Menna

    2003-01-01

    BACKGROUND: Cystic fibrosis (CF) is a disease marked by airway inflammation and airflow obstruction, resulting in air trapping in the lungs. OBJECTIVE: To assess the associations between airflow limitation, pulmonary volume and X-ray findings in patients with cystic fibrosis. METHOD: A cross-sectional retrospective study. Review of spirometric, plethysmographic, and chest X-ray findings of outpatients (age ³ 16 years). The airflow findings were classified as within normal limits or as airflow...

  7. Future Directions in Early Cystic Fibrosis Lung Disease Research: An NHLBI Workshop Report

    OpenAIRE

    Ramsey, Bonnie W.; Banks-Schlegel, Susan; Accurso, Frank J.; Boucher, Richard C.; Cutting, Garry R.; Engelhardt, John F.; Guggino, William B.; Karp, Christopher L.; Knowles, Michael R.; Kolls, Jay K; LiPuma, John J.; Lynch, Susan; McCray, Paul B.; Rubenstein, Ronald C.; Pradeep K Singh

    2012-01-01

    Since the 1989 discovery that mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF), there has been substantial progress toward understanding the molecular basis for CF lung disease, leading to the discovery and development of new therapeutic approaches. However, the earliest impact of the loss of CFTR function on airway physiology and structure and its relationship to initial infection and inflammation are poorly understood. Universal new...

  8. Intestinal Obstruction Syndromes in Cystic Fibrosis: Meconium Ileus, Distal Intestinal Obstruction Syndrome, and Constipation

    OpenAIRE

    van der Doef, Hubert P. J.; Kokke, Freddy T. M.; van der Ent, Cornelis K; Houwen, Roderick H. J.

    2011-01-01

    Meconium ileus at birth, distal intestinal obstruction syndrome (DIOS), and constipation are an interrelated group of intestinal obstruction syndromes with a variable severity of obstruction that occurs in cystic fibrosis patients. Long-term follow-up studies show that today meconium ileus is not a risk factor for impaired nutritional status, pulmonary function, or survival. DIOS and constipation are frequently seen in cystic fibrosis patients, especially later in life; genetic, dietary, and ...

  9. Clinical impact of Achromobacter xylosoxidans colonization/infection in patients with cystic fibrosis

    OpenAIRE

    Firmida, M.C.; R.H.V. Pereira; E.A.S.R. Silva; E.A. Marques; A.J. Lopes

    2016-01-01

    The rate of diagnosis of colonization/infection of the airways with Achromobacter xylosoxidans has increased in cystic fibrosis patients, but its clinical significance is still controversial. This retrospective, case-control study aimed to evaluate the clinical impact of A. xylosoxidans colonization/infection in cystic fibrosis patients. Individuals who were chronically colonized/infected (n=10), intermittently colonized/infected (n=15), and never colonized/infected with A. xylosoxidans (n=18...

  10. Emerging role of cystic fibrosis transmembrane conductance regulator - an epithelial chloride channel in gastrointestinal cancers

    OpenAIRE

    Hou, Yuning; Guan, Xiaoqing; Yang, Zhe; Li, Chunying

    2016-01-01

    Cystic fibrosis transmembrane conductance regulator (CFTR), a glycoprotein with 1480 amino acids, has been well established as a chloride channel mainly expressed in the epithelial cells of various tissues and organs such as lungs, sweat glands, gastrointestinal system, and reproductive organs. Although defective CFTR leads to cystic fibrosis, a common genetic disorder in the Caucasian population, there is accumulating evidence that suggests a novel role of CFTR in various cancers, especially...

  11. Rapid Detection and Immune Characterization of Mycobacterium abscessus Infection in Cystic Fibrosis Patients

    OpenAIRE

    Steindor, Mathis; Nkwouano, Vanesa; MAYATEPEK, Ertan; Mackenzie, Colin R.; Schramm, Dirk; Jacobsen, Marc

    2015-01-01

    Cystic fibrosis patients are highly susceptible to infections with non-tuberculous mycobacteria. Especially Mycobacterium abscessus infections are common but reliable diagnosis is hampered by non-specific clinical symptoms and insensitive mycobacterial culture. In the present study we established novel methods for rapid detection and immune characterization of Mycobacterium abscessus infection in cystic fibrosis patients. We performed Mycobacterium abscessus specific DNA-strip- and quantitati...

  12. Phenotype-Optimized Sequence Ensembles Substantially Improve Prediction of Disease-Causing Mutation in Cystic Fibrosis

    OpenAIRE

    Masica, David L.; Sosnay, Patrick R.; Cutting, Garry R; Karchin, Rachel

    2012-01-01

    Cystic fibrosis transmembrane conductance regulator (CFTR) mutation is associated with a phenotypic spectrum that includes cystic fibrosis (CF). The disease liability of some common CFTR mutations is known, but rare mutations are seen in too few patients to categorize unequivocally, making genetic diagnosis difficult. Computational methods can predict the impact of mutation, but prediction specificity is often below that required for clinical utility. Here, we present a novel supervised learn...

  13. Predictors of deterioration of lung function in Polish children with cystic fibrosis

    OpenAIRE

    Olszowiec-Chlebna, Małgorzata; Koniarek-Maniecka, Agnieszka; Stelmach, Włodzimierz; Smejda, Katarzyna; Jerzyńska, Joanna; Majak, Paweł; Białas, Monika; Stelmach, Iwona

    2016-01-01

    Introduction Severity of lung disease varies in patients with the same CFTR genotype. It suggests that other factors affect the severity of cystic fibrosis (CF). The aim of the study was to identify risk factors that determine lung function decline in Polish cystic fibrosis children. Material and methods The follow-up time was no less than 5 years of respiratory status observation based on the forced expiratory volume in 1 s value (FEV1). The socio-economic data, perinatal interview, presence...

  14. Rare large homozygous CFTR gene deletion in an Iranian patient with cystic fibrosis

    OpenAIRE

    Farjadian, Shirin; Moghtaderi, Mozhgan; Zuntini, Roberta; Ferrari, Simona

    2014-01-01

    Cystic fibrosis, a common autosomal recessive genetic disorder among Caucasians, is caused by defects in the transmembrane conductance regulatory (CFTR) gene. The analysis of CFTR gene mutations is useful to better characterize the disease, and for preconceptional screening, prenatal and preimplantation genetic diagnosis. Here we report the results of a genetic analysis in a 16-year-old boy from southwestern Iran diagnosed as having cystic fibrosis in infancy based on gastrointestinal and pul...

  15. Diabetes in Cystic Fibrosis: Multicenter Screening Results Based on Current Guidelines

    OpenAIRE

    Scheuing , Nicole; Holl, Reinhard W.; Dockter, Gerd; Fink, Katharina; Junge, Sibylle; Naehrlich, Lutz; Smaczny, Christina; Staab, Doris; Thalhammer, Gabriela; van Koningsbruggen-Rietschel, Silke; Ballmann, Manfred

    2013-01-01

    Background: Published estimates on age-dependent frequency of diabetes in cystic fibrosis (CF) vary widely, and are based mostly on older data. However, CF treatment and prevention of comorbidities changed over recent years. In many studies, definition of cystic fibrosis-related diabetes (CFRD) is not in line with current guideline recommendations. Therefore, we evaluated age-dependent occurrence of glucose abnormalities and associated risk factors in CF patients who participated in a multice...

  16. Computed Tomography (CT) Scanning Facilitates Early Identification of Neonatal Cystic Fibrosis Piglets

    OpenAIRE

    Guillon, Antoine; Chevaleyre, Claire; Barc, Céline; Berri, Mustapha; Adriaensen, Hans; Lecompte, François; Villemagne, Thierry; Pezant, Jérémy; Delaunay, Rémi; Moënne-Loccoz, Joseph; Berthon, Patricia; Bähr, Andrea; Wolf, Eckhard; Klymiuk, Nikolai; Attucci, Sylvie

    2015-01-01

    Background Cystic Fibrosis (CF) is the most prevalent autosomal recessive disease in the Caucasian population. A cystic fibrosis transmembrane conductance regulator knockout (CFTR-/-) pig that displays most of the features of the human CF disease has been recently developed. However, CFTR -/- pigs presents a 100% prevalence of meconium ileus that leads to death in the first hours after birth, requiring a rapid diagnosis and surgical intervention to relieve intestinal obstruction. Identificati...

  17. The Role of Computed Tomography in Monitoring Patients with Cystic Fibrosis

    OpenAIRE

    Rybacka, Anna; Karmelita-Katulska, Katarzyna

    2016-01-01

    Summary Cystic fibrosis is the most common lethal autosomal recessive disorder in the Caucasian population. Although the survival rate in patients constantly improves, lung damage is still the major cause of morbidity and mortality in patients with cystic fibrosis. In clinical practice, evaluation of patients’ pulmonary state is made by combination of monitoring of lung function and more directly by assessing the lung structure in imaging studies. Studies showed that computed tomography findi...

  18. Burkholderia cepacia and cystic fibrosis: do natural environments present a potential hazard?

    OpenAIRE

    Butler, S. L.; DOHERTY, C.J; Hughes, J. E.; Nelson, J W; Govan, J R

    1995-01-01

    An environmental survey of 55 sites yielded only 12 Burkholderia cepacia isolates, none of which displayed the phenotypic properties of a multiresistant epidemic strain associated with pulmonary colonization in patients with cystic fibrosis. Although the environment probably poses a low risk for patients with cystic fibrosis as a source of B. cepacia, the pathogenic potential of individual environmental strains remains unclear. We advise caution in the development of B. cepacia as a biocontro...

  19. Interventions for the eradication of meticillin-resistant Staphylococcus aureus (MRSA) in people with cystic fibrosis

    OpenAIRE

    Smyth, Alan R

    2015-01-01

    Background: Cystic fibrosis is an inherited recessive disorder of chloride transport that is characterised by recurrent and persistent pulmonary infections from resistant organisms that result in lung function deterioration and early mortality in sufferers. Meticillin-resistant Staphylococcus aureus (MRSA) has emerged as, not only an important infection in long-term hospitalised patients, but also as a potentially harmful pathogen in cystic fibrosis, and has been increasing steadily in pr...

  20. Ceftaroline Fosamil for Methicillin-Resistant Staphylococcus aureus Pulmonary Exacerbation in a Pediatric Cystic Fibrosis Patient

    OpenAIRE

    Molloy, Leah; Snyder, Ashley Hall; Srivastava, Ruma; Rybak, Michael J.; McGrath, Eric

    2014-01-01

    Ceftaroline, an advanced generation cephalosporin with activity against methicillin-resistant Staphylococcus aureus (MRSA), may present a new therapeutic alternative for treating lung infections among patients with cystic fibrosis. We report a case of ceftaroline therapy in a pediatric patient with cystic fibrosis, whose dose was increased from 9.7 mg/kg/dose every 12 hours to 10.8 mg/kg/dose every 8 hours by using pharmacokinetic analyses.

  1. Cystic fibrosis and Crohn’s disease: Successful treatment and long term remission with infliximab

    OpenAIRE

    Vincenzi, Francesca; Bizzarri, Barbara; Ghiselli, Alessia; de’ Angelis, Nicola; Fornaroli, Fabiola; de’ Angelis, Gian Luigi

    2010-01-01

    The association of cystic fibrosis and Crohn’s disease (CD) is well known, but to date, there are very few cases in the literature of patients suffering from mucoviscidosis who have required treatment with infliximab. We report the case of a 23-year-old patient suffering from cystic fibrosis and severe CD treated successfully with infliximab without any infective complications or worsening of the pulmonary disease and with a long term (2 years) complete remission.

  2. Production of mucoid microcolonies by Pseudomonas aeruginosa within infected lungs in cystic fibrosis.

    OpenAIRE

    Lam, J; Chan, R.; Lam, K.; Costerton, J W

    1980-01-01

    Direct electron microscopic examination of postmortem lung material from cystic fibrosis patients infected with Pseudomonas aeruginosa has shown that these bacterial cells form distinct fiber-enclosed microcolonies in the infected alveoli. Similar examination of bronchoscopy material from infected cystic fibrosis patients showed that the fibres of the enveloping matrix are definitely associated with the bacterial cells. The fibers of the extracellular matrix stain with ruthenium red and are t...

  3. Colonic wall thickness measured by ultrasound: striking differences in patients with cystic fibrosis versus healthy controls.

    OpenAIRE

    Haber, H P; Benda, N; Fitzke, G; Lang, A.; Langenberg, M; Riethmüller, J; Stern, M.

    1997-01-01

    BACKGROUND: Colonic strictures represent an advanced stage of fibrosing colonopathy in patients with cystic fibrosis. AIMS: To clarify whether ultrasonography can identify patients with an early stage of fibrosing colonopathy and to determine clinical factors that influence bowel wall thickening. PATIENTS: Ninety patients with cystic fibrosis, median age 10 years, and 46 healthy controls, median age 13 years, were investigated. METHODS: Bowel wall thickness was measured by ultrasound in a pro...

  4. Selective Activation of Cystic Fibrosis Transmembrane Conductance Regulator Cl- and HCO3- Conductances

    OpenAIRE

    Reddy MM; Quinton PM

    2001-01-01

    While cystic fibrosis transmembrane conductance regulator (CFTR) is well known to function as a Cl(-) channel, some mutations in the channel protein causing cystic fibrosis (CF) disrupt another vital physiological function, HCO(3)(-) transport. Pathological implications of derailed HCO(3)(-) transport are clearly demonstrated by the pancreatic destruction that accompany certain mutations in CF. Despite the crucial role of HCO(3)(-) in buffering pH, little is known about the relationship betwe...

  5. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis.

    OpenAIRE

    Miller, P. W.; Hamosh, A.; Macek, M.; Greenberger, P. A.; MacLean, J; Walden, S M; Slavin, R G; Cutting, G R

    1996-01-01

    The etiology of allergic bronchopulmonary aspergillosis (ABPA) is not well understood. A clinical phenotype resembling the pulmonary disease seen in cystic fibrosis (CF) patients can occur in some individuals with ABPA. Reports of familial occurrence of ABPA and increased incidence in CF patients suggest a possible genetic basis for the disease. To test this possibility, the entire coding region of the cystic fibrosis transmembrane regulator (CFTR) gene was analyzed in 11 individuals who met ...

  6. Role of Pseudomonas aeruginosa exoenzymes in lung infections of patients with cystic fibrosis.

    OpenAIRE

    Döring, G; Goldstein, W; A. Röll; Schiøtz, P O; Høiby, N; Botzenhart, K.

    1985-01-01

    We investigated the role of Pseudomonas aeruginosa exoenzymes in cystic fibrosis lung infection in the presence and absence of specific serum antibodies. In sputa of 21 cystic fibrosis patients, concentrations of P. aeruginosa proteases and exotoxin A were determined by sensitive radioimmunoassays. In all sputa, detection of exoenzymes was negative (less than or equal to 10 ng). Positive serum antibody titers to bacterial exoenzymes were found in the majority of patients. Purified immunoglobu...

  7. Child With Cystic Fibrosis And Pyopneumothorax For Emergency Thoracotomy For Decortication

    OpenAIRE

    Rakesh Garg; Ashwani Kumar; Mridu Paban Nath; Dilip Shende; Rajib Bhattacharyya

    2008-01-01

    We describe a child of cystic fibrosis for emergency thoracotomy. A 7 year female diagnosed as cystic fibrosis, pyopneumothorax with pneumonia was posted for emergency left thoracotomy. On examination, child had decreased air entry on left side of chest and bilateral crepts. Anaesthesia was induced with fentanyl, propofol, vecuronium and sevoflurane in oxygen/air. Airway was secured with tracheal tube. Central venous line and caudal epidural catheter was placed. There were multiple episodes o...

  8. Asthma and COPD in cystic fibrosis intron-8 5T carriers. A population-based study

    DEFF Research Database (Denmark)

    Dahl, Morten; Tybjaerg-Hansen, Anne; Lange, Peter; Nordestgaard, Børge G

    2005-01-01

    Carriers of cystic fibrosis intron-8 5T alleles with high exon-9 skipping could have increased annual lung function decline and increased risk for asthma or chronic obstructive pulmonary disease (COPD).......Carriers of cystic fibrosis intron-8 5T alleles with high exon-9 skipping could have increased annual lung function decline and increased risk for asthma or chronic obstructive pulmonary disease (COPD)....

  9. The Role of Vitamin D Supplementation in Cystic Fibrosis: A Systematic Review

    OpenAIRE

    M Asadi; A Najarzadeh; A Rajizadeh

    2016-01-01

    Cystic fibrosis (CF) is the most common genetic respiratory disease in the west, which is due to a malfunction in protein of cystic fibrosis transmembrane regulator (CFTR). Since some studies showed the effect of vitamin D supplementation and increment in 25OHD serum level in these patients, this study aimed to conduct a review in this scope. For reaching the available studies, a search was conducted on the studies published between2009 to 2014 in English language with the key words of vitami...

  10. An Approach for Treating the Hepatobiliary Disease of Cystic Fibrosis by Somatic Gene Transfer

    Science.gov (United States)

    Yang, Yiping; Raper, Steven E.; Cohn, Jonathan A.; Engelhardt, John F.; Wilson, James M.

    1993-05-01

    Cystic fibrosis (CF) is an inherited disease of epithelial cell ion transport that is associated with pathology in multiple organ systems, including lung, pancreas, and liver. As treatment of the pulmonary manifestations of CF has improved, management of CF liver disease has become increasingly important in adult patients. This report describes an approach for treating CF liver disease by somatic gene transfer. In situ hybridization and immunocytochemistry analysis of rat liver sections indicated that the endogenous CFTR (cystic fibrosis transmembrane conductance regulator) gene is primarily expressed in the intrahepatic biliary epithelial cells. To specifically target recombinant genes to the biliary epithelium in vivo, recombinant adenoviruses expressing lacZ or human CFTR were infused retrograde into the biliary tract through the common bile duct. Conditions were established for achieving recombinant gene expression in virtually all cells of the intrahepatic bile ducts in vivo. Expression persisted in the smaller bile ducts for the duration of the experiment, which was 21 days. These studies suggest that it may be feasible to prevent CF liver disease by genetically reconstituting CFTR expression in the biliary tract, using an approach that is clinically feasible.

  11. Interleukin-17 Pathophysiology and Therapeutic Intervention in Cystic Fibrosis Lung Infection and Inflammation.

    Science.gov (United States)

    Hsu, Daniel; Taylor, Patricia; Fletcher, Dave; van Heeckeren, Rolf; Eastman, Jean; van Heeckeren, Anna; Davis, Pamela; Chmiel, James F; Pearlman, Eric; Bonfield, Tracey L

    2016-09-01

    Cystic fibrosis (CF) is characterized by an excessive neutrophilic inflammatory response within the airway as a result of defective cystic fibrosis transmembrane receptor (CFTR) expression and function. Interleukin-17A induces airway neutrophilia and mucin production associated with Pseudomonas aeruginosa colonization, which is associated with the pathophysiology of cystic fibrosis. The objectives of this study were to use the preclinical murine model of cystic fibrosis lung infection and inflammation to investigate the role of IL-17 in CF lung pathophysiology and explore therapeutic intervention with a focus on IL-17. Cftr-deficient mice (CF mice) and wild-type mice (WT mice) infected with P. aeruginosa had robust IL-17 production early in the infection associated with a persistent elevated inflammatory response. Intratracheal administration of IL-17 provoked a neutrophilic response in the airways of WT and CF animals which was similar to that observed with P. aeruginosa infection. The neutralization of IL-17 prior to infection significantly improved the outcomes in the CF mice, suggesting that IL-17 may be a therapeutic target. We demonstrate in this report that the pathophysiological contribution of IL-17 may be due to the induction of chemokines from the epithelium which is augmented by a deficiency of Cftr and ongoing inflammation. These studies demonstrate the in vivo contribution of IL-17 in cystic fibrosis lung disease and the therapeutic validity of attenuating IL-17 activity in cystic fibrosis. PMID:27271746

  12. Decreased coenzyme Q10 concentration in plasma of children with cystic fibrosis

    NARCIS (Netherlands)

    Oudshoorn, J.H.; Lecluse, A.L.Y.; Berg, R. van den; Vaes, W.H.J.; Laag, J. van der; Houwen, R.H.J.

    2006-01-01

    OBJECTIVES: Coenzyme Q10 (CoQ10) is an effective lipophilic antioxidant and protects against lipid peroxidation by scavenging radicals. Patients with cystic fibrosis generally have fat malabsorption; thus, we hypothesized that overall plasma CoQ10 concentration in pediatric patients with cystic fibr

  13. Optimisation and assessment of airway clearance in children with cystic fibrosis

    NARCIS (Netherlands)

    L.J. van der Giessen (Lianne)

    2009-01-01

    markdownabstract__Abstract__ Cystic Fibrosis (CF) is the most common life-shortening genetic disorder in the white population.1 It affects approximately 1300 individuals in the Netherlands2 and 60.000 individuals worldwide. CF is caused by mutations in the cystic fi brosis transmembrane conductance

  14. Effects of chest physiotherapy and aerobic exercise training on physical fitness in young children with cystic fibrosis

    OpenAIRE

    Elbasan Bulent; Tunali Nur; Duzgun Irem; Ozcelik Ugur

    2012-01-01

    Abstract Background Cystic fibrosis is a multisystem disease where the main problems are existing in the respiratory system. Aerobic exercise programs are effective in increasing physical fitness and muscle endurance in addition to chest physiotherapy. Objective The aim of this study was to evaluate the effects of chest physiotherapy and aerobic exercise training on physical fitness in young children with cystic fibrosis. Methods Sixteen patients with cystic fibrosis, between the ages 5-13 ye...

  15. Rhinovirus‐associated pulmonary exacerbations show a lack of FEV 1 improvement in children with cystic fibrosis

    OpenAIRE

    Cousin, Mathias; Molinari, Nicolas; Foulongne, Vincent; Caimmi, Davide; Vachier, Isabelle; Abely, Michel; Chiron, Raphael

    2016-01-01

    Background Respiratory viral infections lead to bronchial inflammation in patients with cystic fibrosis, especially during pulmonary exacerbations. The aim of this study was to determine the impact of viral‐associated pulmonary exacerbations in children with cystic fibrosis and failure to improve forced expiratory volume in 1 s (FEV 1) after an appropriate treatment. Methods We lead a pilot study from January 2009 until March 2013. Children with a diagnosis of cystic fibrosis were longitudina...

  16. Small intestine bacterial overgrowth and fat digestion and absorption in cystic fibrosis patients

    Directory of Open Access Journals (Sweden)

    Aleksandra Lisowska

    2010-12-01

    Full Text Available Background. Available data suggests that small intestine bacterial overgrowth (SIBO may frequently occur in cystic fibrosis (CF subjects. SIBO may result in synthesis of enterotoxic and unabsorbable metabolites which may cause mucosal damage and – additionally – interfere with digestion and absorption. Such a relationship was documented in CF mouse model. Therefore, in the present study we aimed to assess the influence of bacterial overgrowth in small intestine in CF patients on lipid digestion and absorption. Material and methods. The study comprised 60 pancreatic insufficient CF patients, 30 children and 30 adults. All enrolled CF subjects were tested for the presence of SIBO using hydrogen/methane breath test with glucose loading. According to the obtained results CF patients were divided into SIBO positive and negative subgroups. Subsequently, 13C-labelled mixed triglyceride breath test was performed to assess lipid digestion and absorption. Cumulative percentage dose recovery (cPDR was considered to reflect digestion and absorption of lipids. Results. SIBO was detected in 12 (40.0% children and 11 (36.7% adults with CF. The cPDR did not differ between SIBO positive and negative subgroups, neither when assessed separately for children (mean ±SEM: 5.5 ±0.8 vs. 7.4 ±1.0% and adults (4.9 ±0.8 vs. 7.1 ±0.7% nor for the entire studied population. Conclusions. Small intestine bacterial overgrowth does not seem to play a key role in lipid digestion and absorption in cystic fibrosis patients.

  17. Prevalence of depression and anxiety in patients with cystic fibrosis and parent caregivers: results of The International Depression Epidemiological Study across nine countries

    NARCIS (Netherlands)

    Quittner, A.L.; Goldbeck, L.; Abbott, J.; Duff, A.; Lambrecht, P.; Sole, A.; Tibosch, M.M.; Bergsten Brucefors, A.; Yuksel, H.; Catastini, P.; Blackwell, L.; Barker, D.

    2014-01-01

    BACKGROUND: Individuals with chronic diseases and parent caregivers are at increased risk for symptoms of depression and anxiety. Prevalence of psychological symptoms was evaluated in adolescents and adults with cystic fibrosis (CF) and parent caregivers across nine countries. METHODS: Patients with

  18. Intrinsic pro-angiogenic status of cystic fibrosis airway epithelial cells

    International Nuclear Information System (INIS)

    Cystic fibrosis is a common genetic disorder characterized by a severe lung inflammation and fibrosis leading to the patient's death. Enhanced angiogenesis in cystic fibrosis (CF) tissue has been suggested, probably caused by the process of inflammation, as similarly described in asthma and chronic bronchitis. The present study demonstrates an intrinsic pro-angiogenic status of cystic fibrosis airway epithelial cells. Microarray experiments showed that CF airway epithelial cells expressed several angiogenic factors such as VEGF-A, VEGF-C, bFGF, and PLGF at higher levels than control cells. These data were confirmed by real-time quantitative PCR and, at the protein level, by ELISA. Conditioned media of these cystic fibrosis cells were able to induce proliferation, migration and sprouting of cultured primary endothelial cells. This report describes for the first time that cystic fibrosis epithelial cells have an intrinsic angiogenic activity. Since excess of angiogenesis is correlated with more severe pulmonary disease, our results could lead to the development of new therapeutic applications

  19. Facilitating Positive Psychosocial Adaptation in Children with Cystic Fibrosis by Increasing Family Communication and Problem-Solving Skills. A Research Report to the Cystic Fibrosis Foundation.

    Science.gov (United States)

    Stabler, Brian; And Others

    This study tested the effects of two group-oriented supportive and educational approaches on the parents of children with cystic fibrosis (CF). Thirteen families were randomly assigned either to a group which received information on medical and technical aspects of CF or to a group which received instruction in communication skills in addition to…

  20. LONG-TERM PROGNOSIS OF PATIENTS WITH CYSTIC-FIBROSIS IN RELATION TO EARLY DETECTION BY NEONATAL SCREENING AND TREATMENT IN A CYSTIC-FIBROSIS CENTER

    NARCIS (Netherlands)

    DANKERTROELSE, JE; MEERMAN, GJT

    1995-01-01

    Background - A study was undertaken to evaluate whether an early diagnosis by neonatal screening may improve the long term prognosis of patients with cystic fibrosis and to assess the influence of expert management started immediately after the diagnosis. Methods - Comparative clinical follow up in

  1. Long term prognosis of patients with cystic fibrosis in relation to early detection by neonatal screening and treatment in a cystic fibrosis centre

    NARCIS (Netherlands)

    Dankert-Roelse, J E; te Meerman, G J

    1995-01-01

    BACKGROUND: A study was undertaken to evaluate whether an early diagnosis by neonatal screening may improve the long term prognosis of patients with cystic fibrosis and to assess the influence of expert management started immediately after the diagnosis. METHODS: Comparative clinical follow up in th

  2. Sleep-disordered breathing in patients with cystic fibrosis *

    Science.gov (United States)

    Veronezi, Jefferson; Carvalho, Ana Paula; Ricachinewsky, Claudio; Hoffmann, Anneliese; Kobayashi, Danielle Yuka; Piltcher, Otavio Bejzman; Silva, Fernando Antonio Abreu e; Martinez, Denis

    2015-01-01

    Abstract Objective: To test the hypothesis that disease severity in patients with cystic fibrosis (CF) is correlated with an increased risk of sleep apnea. Methods: A total of 34 CF patients underwent clinical and functional evaluation, as well as portable polysomnography, spirometry, and determination of IL-1β levels. Results: Mean apnea-hypopnea index (AHI), SpO2 on room air, and Epworth Sleepiness Scale score were 4.8 ± 2.6, 95.9 ± 1.9%, and 7.6 ± 3.8 points, respectively. Of the 34 patients, 19 were well-nourished, 6 were at nutritional risk, and 9 were malnourished. In the multivariate model to predict the AHI, the following variables remained significant: nutritional status (β = −0.386; p = 0.014); SpO2 (β = −0.453; p = 0.005), and the Epworth Sleepiness Scale score (β = 0.429; p = 0.006). The model explained 51% of the variation in the AHI. Conclusions: The major determinants of sleep apnea were nutritional status, SpO2, and daytime sleepiness. This knowledge not only provides an opportunity to define the clinical risk of having sleep apnea but also creates an avenue for the treatment and prevention of the disease. PMID:26398755

  3. Pathogenesis and management of nasal polyposis in cystic fibrosis.

    Science.gov (United States)

    Mainz, Jochen G; Koitschev, Assen

    2012-04-01

    Beginning in preschool age, during their lives, upto 50% of cystic fibrosis (CF) patients experience obstructing nasal polyposis (NP), which is rare in non-CF children. Pathogenetic factors of NP in general and especially in CF are still obscure. However, defective epithelial ion transport from mucosal glands plays a central role in CF, and viscous secretions impair mucociliary clearance, promoting chronic pathogen colonization and neutrophil-dominated chronic inflammation.Presently, CF-NP is not curable but can be clinically stabilized,though the large variety of proposed treatment modalities indicates a lack of standardization and of evidence of treatment efficacy. When conservative measures are exhausted, surgical intervention combining individually adapted endoscopic sinus surgery and supportive conservative treatment is performed. Topical steroids, approved as the gold standard for non-CF NP, may be beneficial, but they are discussed to be less effective in neutrophilic inflammation,and CF-specific antimicrobial and mucolytic therapy, as is true of all treatment modalities, urgently requires evaluation by controlled clinical trials within interdisciplinary networks. PMID:23520643

  4. Skeletal Muscle Oxidative Capacity in Patients with Cystic Fibrosis

    Science.gov (United States)

    Erickson, Melissa L.; Seigler, Nichole; McKie, Kathleen T.; McCully, Kevin K.; Harris, Ryan A.

    2016-01-01

    Introduction Exercise intolerance predicts mortality in patients with cystic fibrosis (CF); however, the mechanisms have yet to be fully elucidated. Using near infrared spectroscopy (NIRS), this study compared skeletal muscle oxidative capacity in patients with CF to healthy controls. Methods Thirteen patients and 16 demographically-matched controls participated in this study. NIRS was utilized to measure the recovery rate of oxygen consumption (musVO2max) of the vastus lateralis muscle after 15 s of electrical stimulation (4 Hz) and subsequent repeated transient arterial occlusions. Results musVO2max was reduced in patients with CF (1.82 ± 0.4 min−1) compared to controls (2.13 ± 0.5 min−1, p = 0.04). A significant inverse relationship between age and musVO2max was observed in patients (r = −0.676, p = 0.011), but not controls (r = −0.291, p = 0.274). Discussion Patients with CF exhibit a reduction in skeletal muscle oxidative capacity compared to controls. It appears as the reduced skeletal muscle oxidative capacity is accelerated by age and could likely contribute to exercise intolerance in patients with CF. PMID:25758606

  5. Impact of gene editing on the study of cystic fibrosis.

    Science.gov (United States)

    Harrison, Patrick T; Sanz, David J; Hollywood, Jennifer A

    2016-09-01

    Cystic fibrosis (CF) is a chronic and progressive autosomal recessive disorder of secretory epithelial cells, which causes obstructions in the lung airways and pancreatic ducts of 70,000 people worldwide (for recent review see Cutting Nat Rev Genet 16(1):45-56, 2015). The finding that mutations in the CFTR gene cause CF (Kerem et al. Science 245(4922):1073-1080, 1989; Riordan et al. Science 245(4922):1066-1073, 1989; Rommens et al. Science 245(4922):1059-1065, 1989), was hailed as the very happy middle of a story whose end is a cure for a fatal disease (Koshland Science 245(4922):1029, 1989). However, despite two licensed drugs (Ramsey et al. N Engl J Med 365(18):1663-1672, 2011; Wainwright et al. N Engl J Med 373(3):220-231, 2015), and a formal demonstration that repeated administration of CFTR cDNA to patients is safe and effects a modest but significant stabilisation of disease (Alton et al. Lancet Respir Med 3(9):684-691, 2015), we are still a long way from a cure, with many patients taking over 100 tablets per day, and a mean age at death of 28 years. The aim of this review is to discuss the impact on the study of CF of gene-editing techniques as they have developed over the last 30 years, up to and including the possibility of editing as a therapeutic approach. PMID:27325484

  6. Ibuprofen regulation of microtubule dynamics in cystic fibrosis epithelial cells.

    Science.gov (United States)

    Rymut, Sharon M; Kampman, Claire M; Corey, Deborah A; Endres, Tori; Cotton, Calvin U; Kelley, Thomas J

    2016-08-01

    High-dose ibuprofen, an effective anti-inflammatory therapy for the treatment of cystic fibrosis (CF), has been shown to preserve lung function in a pediatric population. Despite its efficacy, few patients receive ibuprofen treatment due to potential renal and gastrointestinal toxicity. The mechanism of ibuprofen efficacy is also unclear. We have previously demonstrated that CF microtubules are slower to reform after depolymerization compared with respective wild-type controls. Slower microtubule dynamics in CF cells are responsible for impaired intracellular transport and are related to inflammatory signaling. Here, it is identified that high-dose ibuprofen treatment in both CF cell models and primary CF nasal epithelial cells restores microtubule reformation rates to wild-type levels, as well as induce extension of microtubules to the cell periphery. Ibuprofen treatment also restores microtubule-dependent intracellular transport monitored by measuring intracellular cholesterol transport. These effects are specific to ibuprofen as other cyclooxygenase inhibitors have no effect on these measures. Effects of ibuprofen are mimicked by stimulation of AMPK and blocked by the AMPK inhibitor compound C. We conclude that high-dose ibuprofen treatment enhances microtubule formation in CF cells likely through an AMPK-related pathway. These findings define a potential mechanism to explain the efficacy of ibuprofen therapy in CF. PMID:27317686

  7. Analysis of Cystic Fibrosis in Federation of Bosnia and Herzegovina

    Science.gov (United States)

    Selimovic, Amina; Mujicic, Ermina; Milisic, Selma; Mesihovic-Dinarevic, Senka; Dzinovic, Amra; Cengic, Selma; Bakalovic, Ganimeta; Moro, Mahir; Djozic, Meliha; Lukic-Bilela, Lada

    2015-01-01

    Aim: The aim of this study is to present the first total number of tested children in the Federation of Bosnia and Herzegovina and the number of children with positive sweat test. During the study we determined the number of ill children, the median age of children with cystic fibrosis, date of initial diagnosis, an average amount of chloride in the sweat. Material and methods: The study was a retrospective, conducted at the Department of Pulmonology Pediatric Clinic of University Clinical Center of Sarajevo. Results: In the period from March 2003 to December 2014, we have tested 625 children. 351 child were from Sarajevo Canton and 272 children from other cantons. Female children were more affected then male children, in the ratio of 1: 1,105. An average age of female children was 4.19±4.26 years, and the male 2.15±3.11 years. The median concentration of chloride in the sweat measured by sweat test was for male children 103.05±21.29 mmol/L, and for the female children 96.05±28.85 mmol/L. Conclusion: Most of children in Federation of Bosnia and Herzegovina have ∆F508 gene mutation. In the post-war period we started to use a sweat test. Male children tend to live longer than female children with CF. PMID:26543305

  8. Drug management of noninfective complications of cystic fibrosis.

    Science.gov (United States)

    Sanchez, I; Guiraldes, E

    1995-10-01

    Cystic fibrosis (CF) is the commonest lethal hereditary disease in Caucasians. The disease involves a gene mutation located at the long arm of chromosome 7, and more than 300 mutations have been identified. CF is a systemic illness affecting the upper respiratory tract and airways, sweat and salivary glands, pancreas, gastrointestinal tract, liver and male reproductive system. The course is highly variable depending on the specific molecular abnormalities in the mutant gene. The current approach to therapy now involves the use of: (i) chest physiotherapy; (ii) bronchodilators when there is evidence of airways hyperreactivity; (iii) oral and intravenous antibiotics for acute pulmonary exacerbations and aerosolised antibiotics for prevention; (iv) recombinant human deoxyribonuclease I (dornase alfa) to promote airways clearance; (v) amiloride to improve sputum viscosity; (vi) pancreatic enzyme replacement therapy along with nutritional support and supplements; (vi) vitamins; and (vii) ursodeoxycholic acid in selected patients. The use of antiprotease and anti-inflammatory agents has been shown to be useful in preventing the damage secondary to chronic lung infection. In patients with severely impaired lung function, lung transplantations have been performed with good results. Finally, it seems probable that lung disease in CF patients will be ameliorated or prevented in the future with early gene therapy, using vectors such as recombinant adenoviruses, adeno-associated virus, lipofection or retrovirus. However, this require extensive basic and clinical research. PMID:8536551

  9. Evidence of microvascular dysfunction in patients with cystic fibrosis.

    Science.gov (United States)

    Rodriguez-Miguelez, Paula; Thomas, Jeffrey; Seigler, Nichole; Crandall, Reva; McKie, Kathleen T; Forseen, Caralee; Harris, Ryan A

    2016-06-01

    Cystic fibrosis (CF) is a genetic, multisystemic disorder with broad clinical manifestations apart from the well-characterized pulmonary dysfunction. Recent findings have described impairment in conduit vessel function in patients with CF; however, whether microvascular function is affected in this population has yet to be elucidated. Using laser-Doppler imaging, we evaluated microvascular function through postocclusive reactive hyperemia (PORH), local thermal hyperemia (LTH), and iontophoresis with acetylcholine (ACh). PORH [518 ± 174% (CF) and 801 ± 125% (control), P = 0.039], LTH [1,338 ± 436% (CF) and 1,574 ± 620% (control), P = 0.045], and iontophoresis with ACh [416 ± 140% (CF) and 617 ± 143% (control), P = 0.032] were significantly lower in patients with CF than control subjects. In addition, the ratio of PORH to LTH was significantly (P = 0.043) lower in patients with CF (55.3 ± 5.1%) than control subjects (68.8 ± 3.1%). Significant positive correlations between LTH and forced expiratory volume in 1 s (%predicted) (r = 0.441, P = 0.013) and between the PORH-to-LTH ratio and exercise capacity (r = 0.350, P = 0.049) were observed. These data provide evidence of microvascular dysfunction in patients with CF compared with control subjects. In addition, our data demonstrate a complex relationship between microvascular function and classical markers of disease severity (i.e., pulmonary function and exercise capacity) in CF. PMID:27084387

  10. Nasal Potential Difference in Cystic Fibrosis considering Severe CFTR Mutations

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    Ronny Tah Yen Ng

    2015-01-01

    Full Text Available The gold standard for diagnosing cystic fibrosis (CF is a sweat chloride value above 60 mEq/L. However, this historical and important tool has limitations; other techniques should be studied, including the nasal potential difference (NPD test. CFTR gene sequencing can identify CFTR mutations, but this method is time-consuming and too expensive to be used in all CF centers. The present study compared CF patients with two classes I-III CFTR mutations (10 patients (G1, CF patients with classes IV-VI CFTR mutations (five patients (G2, and 21 healthy subjects (G3. The CF patients and healthy subjects also underwent the NPD test. A statistical analysis was performed using the Mann-Whitney, Kruskal-Wallis, χ2, and Fisher’s exact tests, α=0.05. No differences were observed between the CF patients and healthy controls for the PDMax, Δamiloride, and Δchloride + free + amiloride markers from the NPD test. For the finger value, a difference between G2 and G3 was described. The Wilschanski index values were different between G1 and G3. In conclusion, our data showed that NPD is useful for CF diagnosis when classes I-III CFTR mutations are screened. However, if classes IV-VI are considered, the NPD test showed an overlap in values with healthy subjects.

  11. Proton MRI appearance of cystic fibrosis: Comparison to CT

    International Nuclear Information System (INIS)

    Cystic fibrosis (CF) is the most frequent inherited disorder leading to premature death in the Caucasian population. As life expectancy is limited by pulmonary complications, repeated imaging [chest X-ray, multislice high-resolution computed tomography (MS-HRCT)] is required in the follow-up. Magnetic resonance imaging (MRI) of the lung parenchyma is a promising new diagnostic tool. Its value for imaging lung changes caused by CF compared with CT is demonstrated. MRI performs well when compared with CT, which serves as the gold standard. Its lack in spatial resolution is obvious, but advantages in contrast and functional assessment compensate for this limitation. Thus, MRI is a reasonable alternative for imaging the CF lung and should be introduced as a radiation-free modality for follow-up studies in CF patients. For further evaluation of the impact of MRI, systematic studies comparing MRI and conventional imaging modalities are necessary. Furthermore, the value of the additional functional MRI (fMRI) information has to be studied, and a scoring system for the morphological and functional aspect of MRI has to be established. (orig.)

  12. CT characterization of inflammatory paranasal sinus disease in cystic fibrosis

    International Nuclear Information System (INIS)

    Purpose: In patients with cystic fibrosis (CF) the prevalence of paranasal sinus affection approaches 100%. We hypothesized that the hyper viscous mucus reducing mucociliary clearance in CF patients could give sinonasal inflammatory patterns different from those in non-CF patients. We wanted to compare the extent and distribution of paranasal sinus disease and the inflammatory patterns in these two groups of patients. Material and Methods: One-hundred-and-eight CF patients (3-54 years old) and 79 controls (7-51 years old) with paranasal sinus disease confirmed at coronal CT were compared. The extent of disease was noted for each sinus and summed for all sinuses. Inflammatory patterns were identified and classified into: 1) routine surgery group (sporadic, infundibular and ostiomeatal complex (OMC) patterns) and 2) complex surgery group (sinonasal polyposis and sphenoethmoid recess (SER) patterns). Results: CF patients had more widespread sinonasal inflammatory changes and more advanced disease for each sinus. Most CF patients displayed sinonasal polyposis and SER patterns while most controls displayed sporadic, infundibular or OMC patterns. As a result, 67% of CF patients were classified to the complex surgery group, compared to only 19% of controls. Conclusion: The impaired mucociliary clearance in CF causes widespread inflammatory paranasal sinus disease, with inflammatory patterns more often requiring extensive surgery, with a higher risk of cerebrospinal fluid leak or bleeding, or involving areas that are more difficult to reach with the endoscope

  13. Physiologic endpoints for clinical studies for cystic fibrosis.

    Science.gov (United States)

    Stanojevic, Sanja; Ratjen, Felix

    2016-07-01

    The cystic fibrosis (CF) drug development pipeline promises many exciting new treatments for patients with CF, all which will require clinical studies to prove their benefits on CF lung disease. Historically many pivotal CF studies have used the Forced Expiratory Volume in 1s (FEV1) as the primary outcome measure, and after demonstrating significant improvements in the treatment group relative to placebo have led to regulatory approval of therapies for routine clinical care. Widespread implementation of these therapies has subsequently led to significant improvements in outcomes for patients with CF. While preserving lung function has obvious benefits to CF patients, as more patients maintain FEV1 in the normal range, it has become increasingly difficult to conduct clinical trials using FEV1 as the primary outcome measure. With multiple concurrent trials competing to enroll from the same pool of patients, there is a need for novel approaches to study end points as well as new physiological outcomes for CF therapeutic trials. In this review we will discuss some of the limitations of FEV1 in the current era of CF care, describe alternative physiological endpoints and outline areas for further research. PMID:27316663

  14. Nocturnal hypoxemia in children and adolescents with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Regina Terse Trindade Ramos

    2013-12-01

    Full Text Available OBJECTIVE: To determine the prevalence of nocturnal hypoxemia and its association with pulmonary function, nutritional status, sleep macrostructure, and obstructive respiratory events during sleep in a population of clinically stable children and adolescents with cystic fibrosis (CF.METHODS: This was a cross-sectional study involving 67 children and adolescents with CF between 2 and 14 years of age. All of the participants underwent polysomnography, and SpO2 was measured by pulse oximetry. We also evaluated the Shwachman-Kulczycki (S-K scores, spirometry findings, and nutritional status of the patients.RESULTS: The study involved 67 patients. The mean age of the patients was 8 years. The S-K scores differed significantly between the patients with and without nocturnal hypoxemia, which was defined as an SpO2 < 90% for more than 5% of the total sleep time (73.75 ± 6.29 vs. 86.38 ± 8.70; p < 0.01. Nocturnal hypoxemia correlated with the severity of lung disease, FEV1 (rs= −0.42; p = 0.01, FVC (rs= −0.46; p = 0.01, microarousal index (rs= 0.32; p = 0.01, and apnea-hypopnea index (rs = 0.56; p = 0.01.CONCLUSIONS: In this sample of patients with CF and mild-to-moderate lung disease, nocturnal oxygenation correlated with the S-K score, spirometry variables, sleep macrostructure variables, and the apnea-hypopnea index.

  15. Ferrokinetic and hematologic studies in cystic fibrosis patients

    International Nuclear Information System (INIS)

    We investigated 28 cystic fibrosis (CF) patients to determine why hypoxia from their obstructive pulmonary disease does not produce polycythemia. Oxygen saturation was lower and erythropoietin levels were higher in CF patients than in 25 age-comparable reference subjects (90.8% and 47 mimu vs. 94.7% and 29 mimu, p less than 0.01). Hematocrit and red blood cell (RBC) indices were not different between groups. Serum vitamin and iron levels, ferrokinetics, RBC volume, and RBC survival were studied in 10 of the 28 CF patients. Total iron-binding capacity and vitamin E levels were low, and serum iron, ferritin, vitamin B12, and folate levels were normal in these patients. Red blood cell survival was minimally decreased in six patients although there was no other evidence for hemolysis. Ferrokinetics (59Fe) indicated a reduction in total erythropoiesis in only two patients. Plasma volume was high-normal in five and above normal in four CF patients; RBC mass was increased appropriately for each patient's degree of hypoxia, when compared to healthy individuals living at different altitudes. These results suggest that CF patients are able to compensate for hypoxia by increasing RBC mass; however, an expanded plasma volume prevents a detectable rise in hematocrit

  16. Glucose tolerance during pulmonary exacerbations in children with cystic fibrosis.

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    John Widger

    Full Text Available BACKGROUND: Patients with Cystic Fibrosis (CF are relatively insulinopenic and are at risk of diabetes, especially during times of stress. There is a paucity of data in the literature describing glucose tolerance during CF pulmonary exacerbations. We hypothesised that glucose tolerance would be worse during pulmonary exacerbations in children with CF than during clinical stability. METHODS: Patients with CF, 10 years or older, admitted with a pulmonary exacerbation underwent an OGTT within 48 hours of admission. A repeat OGTT was performed 4 to 6 weeks post discharge when the patients were well. RESULTS: Nine patients completed the study. Four patients were found to have normal glucose tolerance, 3 with impaired and 2 with CF related diabetes during the exacerbation. Mean change in 2-hour glucose was 1.1 mmol (SD = 0.77. At the follow up OGTT, 8 of 9 (89% remained within their respective glucose tolerance status groupings. CONCLUSION: The findings of this study show that there is little difference in glucose tolerance during CF exacerbations compared to clinical stability in the majority of patients.

  17. Body composition and pulmonary function in Cystic Fibrosis

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    Saba eSheikh

    2014-04-01

    Full Text Available Background: Lower body mass index (BMI is associated with worse pulmonary function in cystic fibrosis (CF. Hypothesis: Lean body mass (LBM is more strongly associated with pulmonary function than BMI is.Methods: Anthropometrics, body composition by dual x-ray absorptiometry, and pulmonary function were determined in pancreatic insufficient CF (PI-CF youth. Sex and age-adjusted Z-scores (BMI-Z, LBMI-Z, FMI-Z were generated for CF and controls. 1 Associations of BMI-Z with LBMI-Z and FMI-Z and 2 age-adjusted associations of BMI-Z, LBMI-Z, and FMI-Z with FEV1%-predicted were tested. Results: 208 PI-CF subjects had lower BMI-Z, LBMI-Z, FMI-Z compared to 390 controls. BMI-Z was associated with lower LBMI-Z (pConclusions: In PI-CF youth, deficits in LBM were apparent. At lower BMI percentiles, BMI may not accurately depict LBM in PI-CF. In under-nourished PI-CF youth this preservation of FM in preference to LBM is relevant since LBMI-Z, but not FMI-Z, is positively associated with FEV1%-predicted. LBMI is more strongly associated with lung function compared to BMI, especially in the undernourished child and adolescent with PI-CF.

  18. Isolation of Pseudomonas cepacia in cystic fibrosis patient

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    Elizabeth de Andrade Marques

    1993-03-01

    Full Text Available Pulmonary infection on cystic fibrosis (CF patients are associated with a limited qualitative number of microorganisms. During the colonization process, Staphylococcus aureus usually preceedes Pseudomonas aeruginosa. This latter is at first non-mucoid, being replaced or associated to a mucoid morphotype which is rare in other diseases. In 1980, Pseudomonas cepacia appeared as an important agent in CF pulmonary infections with a mean frequency of about 6.1% isolations in different parts of the world. The primus colonization mainly occurs in the presence of pre-existent tissue lesions and the clinical progress of the disease is variable. In some patients it can be fulminant; in others it can cause a gradual and slow decrease in their pulmonary functions. The concern with this germ isolation is justified by its antibiotic multiple resistence and the possibility of direct transmission from a colonized patient to a non-colonized one. We reported the first case of P. cepacia infection in a CF patient in our area. The microbiological attendance to this patient had been made from 1986 to 1991 and the first positive culture appeared in 1988. The sensitivity profile showed that the primus colonization strain was sensitive to 9 of 17 tested antibiotics, however in the last culture the strain was resistent to all antibiotics. These data corroborate the need for monitoring the bacterial flora on CF patients respiratory system.

  19. Expression of Cystic Fibrosis Transmembrane Conductance Regulator in Rat Ovary

    Institute of Scientific and Technical Information of China (English)

    Lei JIN; Ruiling TANG

    2008-01-01

    Summary: The protein expression of cystic fibrosis transmembrane conductance regulator (CFTR), a cAMP-activated Cl- channel, in ovarian stimulated premature female rat ovary during a cycle of follicle development and corpus luteum formation was investigated. Animals were injected with 10 U pregnant Mare's serum gonadotropin (PMSG) and subsequently 10U hCG 48h later. Time-dependent immunohistochemistry and Western blotting experiments were performed before and 24, 48, 72h after hCG treatment. The immnnohistochemistry revealed that administration of PMSG stimulated the CFTR expression in theeal cell layer and granulosa cell layer of mature follicles 48 h post injection, coincident with the PMSG-induced peak in follicular estradiol. However, the expression of CFTR in the granuiose lutein cell layer and theeal lutein cell layer was time-dependently reduced following hCG injection, in accordance with the gradually increased progestogen level during luteum corpus formation. Western blotting analysis demonstrated that rat ovarian tissue expressed the special CFTR band at 170kD. It is concluded that cAMP-dependent Cl- channels are involved in regulation of follicle development and luteum formation.

  20. Structure and function of the cystic fibrosis transmembrane conductance regulator

    Directory of Open Access Journals (Sweden)

    M.M. Morales

    1999-08-01

    Full Text Available Cystic fibrosis (CF is a lethal autosomal recessive genetic disease caused by mutations in the CF transmembrane conductance regulator (CFTR. Mutations in the CFTR gene may result in a defective processing of its protein and alter the function and regulation of this channel. Mutations are associated with different symptoms, including pancreatic insufficiency, bile duct obstruction, infertility in males, high sweat Cl-, intestinal obstruction, nasal polyp formation, chronic sinusitis, mucus dehydration, and chronic Pseudomonas aeruginosa and Staphylococcus aureus lung infection, responsible for 90% of the mortality of CF patients. The gene responsible for the cellular defect in CF was cloned in 1989 and its protein product CFTR is activated by an increase of intracellular cAMP. The CFTR contains two membrane domains, each with six transmembrane domain segments, two nucleotide-binding domains (NBDs, and a cytoplasmic domain. In this review we discuss the studies that have correlated the role of each CFTR domain in the protein function as a chloride channel and as a regulator of the outwardly rectifying Cl- channels (ORCCs.

  1. Cystic fibrosis heterozygote screening in 5,161 pregnant women

    Energy Technology Data Exchange (ETDEWEB)

    Witt, D.R.; Hallam, P.; Blumberg, B.; Fishbach, A. [Kaiser Permanente Medical Care Program of Northern California, San Jose, CA (United States)] [and others

    1996-04-01

    A screening program for cystic fibrosis (CF) heterozygotes was conducted in a large HMO prenatal population, to evaluate the level of interest among eligible patients, the effectiveness of prescreening education, attitudes toward the screening process, psychological effects, and utilization of prenatal diagnosis and its outcomes. The heterozygote identification rate and frequency of specific CFTR mutations were also assessed. Identified carriers were offered genetic counseling and testing of male partners. Prenatal diagnosis was offered if both partners were identified as carriers. A total of 5,161 women underwent carrier testing; 947 others completed survey instruments only. The acceptance rate of screening was high (78%), and pretest education by videotape was generally effective. Adverse psychological effects were not reported. Participants generally found screening to be desirable and useful. Screening identified 142 female heterozygotes, 109 couples in which the male partner was not a carrier, and 7 high-risk couples. The incidence of R117H mutations was much higher than expected. The number of identified carriers was much lower in Hispanics than in Caucasians. We conclude that large-scale prenatal screening for CF heterozygotes in the absence of a family history of CF is an acceptable method for identifying couples at risk for affected fetuses. Sufficient pretest education can be accomplished efficiently, test insensitivity is well accepted, adverse psychological events are not observed, and general patient satisfaction is high. 66 refs., 1 fig., 8 tabs.

  2. Inhaled corticosteroids and Aspergillus fumigatus isolation in cystic fibrosis.

    Science.gov (United States)

    Noni, Maria; Katelari, Anna; Dimopoulos, George; Kourlaba, Georgia; Spoulou, Vana; Alexandrou-Athanassoulis, Helen; Doudounakis, Stavros-Eleftherios; Tzoumaka-Bakoula, Chryssa

    2014-10-01

    Aspergillus fumigatus isolation in cultures from respiratory specimens of patients with cystic fibrosis (CF) is quite common; however, the role of A. fumigatus as a pathogen and whether its presence is associated with progression of pulmonary disease remain unclear. We investigated the association between inhaled corticosteroids and the recovery of A. fumigatus by performing a retrospective cohort study of CF patients born between 1988 and 1996. The patients' medical records from their first visit to the CF Center until December 2010 were reviewed. Outcomes were the occurrence of A. fumigatus first isolation, chronic colonization, or the last visit at the CF Center. A number of possible confounders were included in the multivariate logistic regression analysis in order to identify an independent association between inhaled corticosteroids and colonization status. A total of 121 patients were included in the study. Thirty-nine patients (32.2%) had at least one positive culture and 14 (11.6%) developed chronic colonization. Multivariate logistic regression analysis was used to determine the independent effect of inhaled corticosteroids on the odds of first isolation (odds ratio [OR], 1.165; 95% confidence interval [CI], 1.015-1.337; P = 0.029) and chronic colonization (OR, 1.180; 95% CI, 1.029-1.353; P = 0.018). In conclusion, A. fumigatus first isolation and chronic colonization are associated with the duration of inhaled corticosteroid treatment. PMID:25056962

  3. Allergic bronchopulmonary aspergillosis in patients with cystic fibrosis.

    Science.gov (United States)

    Mroueh, S; Spock, A

    1994-01-01

    In order to determine the incidence of allergic bronchopulmonary aspergillosis (ABPA) in patients with cystic fibrosis (CF), we reviewed the records of 236 patients followed up at the Duke CF Center. Sixty patients (25 percent) had colonies of Aspergillus fumigatus. These patients were older and had more severe disease as assessed by lower Shwachman-Kulczycki (S-K) scores than the patients who did not have evidence of A fumigatus. In 15 of the patients with A fumigatus (6.5 percent of the total population), the diagnosis was ABPA. Age and S-K scores were not significantly different from those of the patients with A fumigatus without ABPA. Diagnostic features of the affected patients included wheezing refractory to bronchodilator therapy, persistent pulmonary infiltrates, peripheral eosinophilia, positive skin reactivity to an A fumigatus antigen and elevated total serum IgE levels. Steroid therapy was started for all patients, and clinical improvement was noted within 1 month as evidenced by decreased symptoms and weight gain. Chest x-ray films usually showed improvement. Vital capacity improved in all but two patients. Total IgE did not consistently decrease in response to therapy. Although the diagnosis of ABPA may be difficult to establish, ABPA commonly is associated with CF. Most patients respond to steroid therapy; however, the effect of therapy on the course of the disease is difficult to assess. PMID:8275769

  4. Effects of calcium on intestinal mucin: implications for cystic fibrosis.

    Science.gov (United States)

    Forstner, J F; Forstner, G G

    1976-06-01

    A major feature of the disease cystic fibrosis is the excessive concentration of mucus within ducts and glands of mucous-producing organs. Some mucous secretions also show an elevation in calcium concentration. Using purified rat intestinal goblet cell mucin as a model mucin, we have investigated the effect of millimolar additions (1-25 mM) of CaCl2 on the physical properties of the mucin. Isotonicity of incubation media was preserved in order to mimic in vivo conditions. CaCl2 (8-15mM) caused a 15-33% decrease in viscosity, no change in electrophoretic mobility in acrylamide gels, and a 20-30% decrease in solubility of the mucin. Solubility changes were reversed by the addition of EDTA (20 mM) to incubations. Insolubility was also produced in incubations of mucin with a mixture of soluble intestinal contents (NaCl washings). These findings strongly suggest that the mucin became smaller and more dense as calcium was added, a process most probably achieved by loss of intramolecular water. PMID:1272637

  5. Changing the Paradigm - Treating the Basic Defect in Cystic Fibrosis.

    Science.gov (United States)

    Guglani, Lokesh

    2015-08-01

    Since the first description of Cystic fibrosis (CF) more than 75 y ago, significant advances have been made in understanding its pathogenesis and in developing specific therapies. The pace of these developments was further accelerated after the discovery of CF gene in 1989 and since then, CF has been transformed from being a pediatric illness into a chronic life-limiting genetic disorder with survival up to the fourth decade. The development of mutation-specific therapies in the first decade of the 21st century has the potential to change the natural history of CF and has now ushered in the era of 'Precision Medicine'. The ability to revert the basic defect in CF by using Personalized Medicine approach based on each individual's genetic profile will serve as a model for other chronic disorders as well. This review highlights the recent advances in the field of CF research that have led to a paradigm shift in its management and outcomes. PMID:26077199

  6. Translating the genetics of cystic fibrosis to personalized medicine.

    Science.gov (United States)

    Corvol, Harriet; Thompson, Kristin E; Tabary, Olivier; le Rouzic, Philippe; Guillot, Loïc

    2016-02-01

    Cystic fibrosis (CF) is the most common life-threatening recessive genetic disease in the Caucasian population. This multiorgan disease is caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein, a chloride channel recognized as regulating several apical ion channels. The gene mutations result either in the lack of the protein at the apical surface or in an improperly functioning protein. Morbidity and mortality because of the mutation of CFTR are mainly attributable to lung disease resulting from chronic infection and inflammation. Since its discovery as the causative gene in 1989, much progress has been achieved not only in clinical genetics but also in basic science studies. Recently, combinations of these efforts have been successfully translated into development and availability for patients of new therapies targeting specific CFTR mutations to correct the CFTR at the protein level. Current technologies such as next gene sequencing and novel genomic editing tools may offer new strategies to identify new CFTR variants and modifier genes, and to correct CFTR to pursue personalized medicine, which is already developed in some patient subsets. Personalized medicine or P4 medicine ("personalized," "predictive," "preventive," and "participatory") is currently booming for CF. The various current and future challenges of personalized medicine as they apply to the issues faced in CF are discussed in this review. PMID:25940043

  7. Thioredoxin liquefies and decreases the viscoelasticity of cystic fibrosis sputum.

    Science.gov (United States)

    Rancourt, Raymond C; Tai, Shusheng; King, Malcolm; Heltshe, Sonya L; Penvari, Churee; Accurso, Frank J; White, Carl W

    2004-05-01

    The persistent and viscous nature of airway secretions in cystic fibrosis (CF) disease leads to airway obstruction, opportunistic infection, and deterioration of lung function. Thioredoxin (Trx) is a protein disulfide reductase that catalyzes numerous thiol-dependent cellular reductive processes. To determine whether Trx can alter the rheological properties of mucus, sputum obtained from CF patients was treated with TRX and its reducing system (0.1 microM thioredoxin reductase + 2 mM NADPH), and liquid phase-gel phase ratio (percent liquid phase) was assessed by compaction assay. Exposure to low Trx concentrations (1 microM) caused significant increases in the percentage of liquid phase of sputum. Maximal increases in percent liquid phase occurred with 30 microM Trx. Additional measurements revealed that sputum liquefaction by the Trx reducing system is dependent on NADPH concentration. The relative potency of the Trx reducing system also was compared with other disulfide-reducing agents. In contrast with Trx, glutathione and N-acetylcysteine were ineffective in liquefying sputum when used at concentrations mucus, we suggest that Trx alters sputum rheology by enzymatic reduction of glycoprotein polymers present in sputum. PMID:14695120

  8. Severe bone demineralisation is associated with higher mortality in children with cystic fibrosis.

    LENUS (Irish Health Repository)

    O'Reilly, R

    2009-02-01

    Decreased bone mineral density (BMD) is an emerging problem for clinicians who care for children with Cystic fibrosis (CF). The aim of this study was to determine prevalence and assess risk factors for reduced BMD in our adolescent population with CF. All bone densitometry scans (n=99) performed on children (n=79) with a mean age 13.6 (10-19.2) years over a 7 year period (2000-2007) were reviewed. Patient records were reviewed for correlating clinical data. Low BMD is frequently present in adults and children with variable reports (36-66%). In our study, BMD expressed as z score of L2-L4 spine was reduced in a total of 50% children with a preponderance of males. Bone demineralization was strongly associated with increasing age (p=0.03), diminished lung function (p=0.027), reduced body mass index (p=0.001) and treatment with oral corticosteroids (p=0.02).

  9. Treatment compliance in adults with cystic fibrosis.

    OpenAIRE

    J. Abbott; Dodd, M.; Bilton, D; Webb, A. K.

    1994-01-01

    BACKGROUND--The study comprised three interrelated aims: (1) to ascertain (a) patient compliance with physiotherapy, exercise, enzyme and vitamin regimens, (b) how compliance was perceived by patients, and (c) the reasons for poor compliance (2) to identify demographic and clinical variables associated with compliance; and (3) to determine how accurately patient compliance can be predicted by carers. METHODS--Demographic and medical history data were obtained from medical records and a patien...

  10. T helper cell subsets specific for Pseudomonas aeruginosa in healthy individuals and patients with cystic fibrosis.

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    Hannah K Bayes

    Full Text Available BACKGROUND: We set out to determine the magnitude of antigen-specific memory T helper cell responses to Pseudomonas aeruginosa in healthy humans and patients with cystic fibrosis. METHODS: Peripheral blood human memory CD4(+ T cells were co-cultured with dendritic cells that had been infected with different strains of Pseudomonas aeruginosa. The T helper response was determined by measuring proliferation, immunoassay of cytokine output, and immunostaining of intracellular cytokines. RESULTS: Healthy individuals and patients with cystic fibrosis had robust antigen-specific memory CD4(+ T cell responses to Pseudomonas aeruginosa that not only contained a Th1 and Th17 component but also Th22 cells. In contrast to previous descriptions of human Th22 cells, these Pseudomonal-specific Th22 cells lacked the skin homing markers CCR4 or CCR10, although were CCR6(+. Healthy individuals and patients with cystic fibrosis had similar levels of Th22 cells, but the patient group had significantly fewer Th17 cells in peripheral blood. CONCLUSIONS: Th22 cells specific to Pseudomonas aeruginosa are induced in both healthy individuals and patients with cystic fibrosis. Along with Th17 cells, they may play an important role in the pulmonary response to this microbe in patients with cystic fibrosis and other conditions.

  11. Coagulopathy as initial manifestation of concomitant celiac disease and cystic fibrosis: a case report

    Directory of Open Access Journals (Sweden)

    Zdraveska Nikolina

    2011-03-01

    Full Text Available Abstract Introduction Celiac disease and cystic fibrosis have many common manifestations, such as malabsorption, steatorrhea and growth failure, and were for many years recognized as one clinical entity. Since their recognition as two separate diseases, their co-existence in a patient has been described sporadically; around 20 cases have been described in the literature. Taking into consideration the incidences of the two diseases, the chance of them occurring together is one in 2,000,000 in the general population. Case presentation We describe the case of a five-year-old boy of Turkish ethnicity with both celiac disease and cystic fibrosis, who presented initially with a skin hemorrhage. The diagnosis of celiac disease was made with a positive serum anti-tissue transglutaminase antibody test and the presence of HLA-DQ2 heterodimer, and confirmed on histology with small intestinal villous atrophy. A positive sweat test confirmed the diagnosis of associated cystic fibrosis. To the best of our knowledge there has been no previous report of this rare presentation of associated celiac disease and cystic fibrosis. Conclusion The clinical significance of this case is the consideration of malabsorption with both celiac disease and cystic fibrosis in patients who present with unexplained coagulopathy.

  12. Human amnion epithelial cells induced to express functional cystic fibrosis transmembrane conductance regulator.

    Directory of Open Access Journals (Sweden)

    Sean V Murphy

    Full Text Available Cystic fibrosis, an autosomal recessive disorder caused by a mutation in a gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR, remains a leading cause of childhood respiratory morbidity and mortality. The respiratory consequences of cystic fibrosis include the generation of thick, tenacious mucus that impairs lung clearance, predisposing the individual to repeated and persistent infections, progressive lung damage and shortened lifespan. Currently there is no cure for cystic fibrosis. With this in mind, we investigated the ability of human amnion epithelial cells (hAECs to express functional CFTR. We found that hAECs formed 3-dimensional structures and expressed the CFTR gene and protein after culture in Small Airway Growth Medium (SAGM. We also observed a polarized CFTR distribution on the membrane of hAECs cultured in SAGM, similar to that observed in polarized airway cells in vivo. Further, hAECs induced to express CFTR possessed functional iodide/chloride (I(-/Cl(- ion channels that were inhibited by the CFTR-inhibitor CFTR-172, indicating the presence of functional CFTR ion channels. These data suggest that hAECs may be a promising source for the development of a cellular therapy for cystic fibrosis.

  13. Nutrición, fibrosis quística y aparato digestivo Nutrition, cystic fibrosis and the digestive tract

    Directory of Open Access Journals (Sweden)

    Gabriel Olveira

    2008-05-01

    empleo no está avalado en evidencias científicas sólidas. Los preparados más empleados suelen ser poliméricos e hipercalóricos. Las indicaciones de soporte nutricional enteral por sonda (especialmente gastrostomía o parenteral son similares a las empleadas en otras patologías. El control dietético y nutricional debe incluirse en un programa multidisciplinar que permita mejorar la capacidad funcional, la calidad de vida y reducir, al menos teóricamente, la morbi-mortalidad asociada a la malnutrición en estos pacientes.The prevalence of hyponutrition in cystic fibrosis is high although it may vary according to the different studies. Detection of hyponutrition should be done by combining different methods, depending on their availability. However, the simplest and most validated criterion is to measure at each visit the weight (and height in children in order to calculate the body mass index and categorizing hyponutrition according to absolute criteria: in adults < 18.5 kg/m², and in children as percentiles of the body mass index. Worsening of the nutritional status is directly related with the decrease in lung function parameters and it has been proposed as a morbidity (and even mortality predictive factor in people with cystic fibrosis, independently of the level of pulmonary dysfunction. Exocrine pancreatic insufficiency is present is approximately 70-90% of the patients with cystic fibrosis and the genotype-phenotype correlation is high. Most of the patients with exocrine pancreatic insufficiency tolerate a high-fat diet provided that they are treated with pancreatic enzymes at appropriate doses. The prevalence of diabetes increases with age, reaching up 40% of the cases in patients older than 30 years. Clinical liver involvement is less prevalent (it approximately affects 1/3 of the patients. Other intestinal complications such as meconial ileus, gastroesophageal reflux, obstruction of the distal intestine, or fibrosing colon disease may also condition

  14. Inflammation and airway microbiota during cystic fibrosis pulmonary exacerbations.

    Directory of Open Access Journals (Sweden)

    Edith T Zemanick

    Full Text Available BACKGROUND: Pulmonary exacerbations (PEx, frequently associated with airway infection and inflammation, are the leading cause of morbidity in cystic fibrosis (CF. Molecular microbiologic approaches detect complex microbiota from CF airway samples taken during PEx. The relationship between airway microbiota, inflammation, and lung function during CF PEx is not well understood. OBJECTIVE: To determine the relationships between airway microbiota, inflammation, and lung function in CF subjects treated for PEx. METHODS: Expectorated sputum and blood were collected and lung function testing performed in CF subjects during early (0-3d. and late treatment (>7d. for PEx. Sputum was analyzed by culture, pyrosequencing of 16S rRNA amplicons, and quantitative PCR for total and specific bacteria. Sputum IL-8 and neutrophil elastase (NE; and circulating C-reactive protein (CRP were measured. RESULTS: Thirty-seven sputum samples were collected from 21 CF subjects. At early treatment, lower diversity was associated with high relative abundance (RA of Pseudomonas (r = -0.67, p<0.001, decreased FEV(1% predicted (r = 0.49, p = 0.03 and increased CRP (r = -0.58, p = 0.01. In contrast to Pseudomonas, obligate and facultative anaerobic genera were associated with less inflammation and higher FEV₁. With treatment, Pseudomonas RA and P. aeruginosa by qPCR decreased while anaerobic genera showed marked variability in response. Change in RA of Prevotella was associated with more variability in FEV₁ response to treatment than Pseudomonas or Staphylococcus. CONCLUSIONS: Anaerobes identified from sputum by sequencing are associated with less inflammation and higher lung function compared to Pseudomonas at early exacerbation. CF PEx treatment results in variable changes of anaerobic genera suggesting the need for larger studies particularly of patients without traditional CF pathogens.

  15. Quantitative deposition of aerosolized gentamicin in cystic fibrosis

    International Nuclear Information System (INIS)

    In cystic fibrosis (CF), the clinical effectiveness of aerosolized antibiotics is controversial. Previous investigators have not considered the type of nebulizer, droplet size, and dose to the lung in assessing the results of aerosol therapy. The present study tests the importance of these factors by standardizing an aerosol system for delivery of antibiotics and other agents to patients with CF. Particle size, distribution, and output from a commercially available nebulizer were measured. Thirteen patients with CF inhaled aerosol (MMAD = 1.1 micron) containing gentamicin (160 mg in nebulizer) and /sup 99m/Tc-labeled human serum albumin. Patients' sputum and serum were analyzed for gentamicin levels by immunoenzymatic assay. Using a gamma camera and suitable filters, central versus peripheral deposition (C/P ratio) and whole lung deposition were measured and related to sputum gentamicin levels. Gentamicin deposit averaged 12.3 mg +/- 5.9 (SD) or 7.69% of the original amount placed in the nebulizer. Peak sputum levels averaged 376.6 micrograms/ml +/- 275, whereas serum levels were undetectable in all patients. When peak sputum levels were normalized for the amount deposited, a close correlation with C/P ratio was obtained (r = 0.88, p less than 0.05). Furthermore, an inverse relationship was found between the C/P ratio and the %FEV1 (r = 0.76, p less than 0.05). Finally, a bell-shaped relationship between deposited dose and minute ventilation was seen in the patients (r = 0.88, p less than 0.05), i.e., an optimal minute ventilation was shown. These relationships may be important when designing future clinical studies

  16. Comparison of immunoreactive serum trypsinogen and lipase in Cystic Fibrosis

    International Nuclear Information System (INIS)

    The incidence of Cystic Fibrosis (CF) is 1 in 2,000. Early detection and treatment of CF may necessitate newborn screening with a reliable and cost-effective test. Serum immunoreactive trypsinogen (IRT) an enzyme produced by the pancreas, is detectable by radioimmunoassay (RIA) techniques. Recently, it has been shown that IRT is elevated in CF infants for the first few months of life and levels become subnormal as pancreatic insufficiency progresses. Other enzymes produced by the pancreas, such as lipase, are also elevated during this time. The author's earlier work confirmed previous reports of elevated IRT levels in CF infants. The development of a new RIA for lipase (nuclipase) has enabled comparison of these 2 pancreatic enzymes in C.F. Serum IRT and lipase determinations were performed on 2 groups of CF patients; infants under 1 year of age, and children between 1 and 18 years of age. Control populations of the same age groups were included. The results showed that both trypsin (161 +- 92 ng/ml, range 20 to 400) and lipase (167 +- 151 ng/ml, range 29 to 500) are elevated in CF in the majority of infants. Control infants had values of IRT ranging from 20 to 29.5 ng/ml and lipase values ranging from 23 to 34 ng/ml. IRT becomes subnormal in most CF patients by 8 years of age as pancreatic function insufficiency increases. Lipase levels and IRT levels correlate well in infancy, but IRT is a more sensitive indicator of pancreatic insufficiency in older patients with CF

  17. Vitamin K status in young children with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Patrycja Krzyżanowska

    2011-09-01

    Full Text Available   Introduction. Cystic fibrosis (CF patients are at risk of developing vitamin K deficiency. However, there is no clinical data clearly describing vitamin K status in the youngest age group. Therefore, in the present study we aimed to assess body resources of vitamin K in children aged up to 3 years and to correlate vitamin K status with selected clinical factors. Material and methods. The study comprised 52 CF patients receiving and not receiving vitamin K supplementation. In all subjects, the concentration of the undercarboxylated prothrombin (PIVKA-II, as a marker of vitamin K deficiency, was determined. Results. PIVKA-II concentrations were pathological in 24 (46.2% CF children, in remaining 28 (53.8% patients vitamin K status was found to be normal. No statistical differences in clinical parameters (Z-score for body height and weight, number of hospitalizations and sweat chloride concentrations neither in distribution of Pseudomonas aeruginosa colonization nor in pancreatic status between selected subgroups with normal and abnormal PIVKA-II concentrations were documented. Normal vitamin K status was more frequent in patients receiving proper vitamin K supplementation (p < 0.0078. However, vitamin K deficiency appeared in 5 out of 21 patients receiving at least 2.5 mg vitamin K/week. In logistic regression model, no clinical parameter was proven to be a risk factor for vitamin K deficiency. Conclusion. Vitamin K deficiency is frequent in CF infants and toddlers, and may also appear in those receiving recommended supplementation. There is no strong relationship between clinical expression of the disease and vitamin K status.  

  18. [Polymethoxylated flavonoids activate cystic fibrosis transmembrane conductance regulator chloride channel].

    Science.gov (United States)

    Cao, Huan-Huan; Fang, Fang; Yu, Bo; Luan, Jian; Jiang, Yu; Yang, Hong

    2015-04-25

    Cystic fibrosis transmembrane conductance regulator (CFTR), a cAMP-dependent chloride channel, plays key roles in fluid secretion in serous epithelial cells. Previously, we identified two polymethoxylated flavonoids, 3',4',5,5',6,7-hexamethoxyflavone (HMF) and 5-hydroxy-6,7,3',4'-tetramethoxyflavone (HTF) which could potentiate CFTR chloride channel activities. The present study was aimed to investigate the potentiation effects of HMF and HTF on CFTR Cl(-) channel activities by using a cell-based fluorescence assay and the short circuit Ussing chamber assay. The results of cell-based fluorescence assay showed that both HMF and HTF could dose-dependently potentiate CFTR Cl(-) channel activities in rapid and reversible ways, and the activations could be reversed by the CFTR blocker CFTRinh-172. Notably, HMF showed the highest affinity (EC50 = 2 μmol/L) to CFTR protein among the flavonoid CFTR activators identified so far. The activation of CFTR by HMF or HTF was forskolin (FSK) dependent. Both compounds showed additive effect with FSK and 3-Isobutyl-1-methylx (IBMX) in the activation of CFTR, while had no additive effect with genistein (GEN). In ex vivo studies, HMF and HTF could stimulate transepithelial Cl(-) secretion in rat colonic mucosa and enhance fluid secretion in mouse trachea submucosal glands. These results suggest that HMF and HTF may potentiate CFTR Cl(-) channel activities through both elevation of cAMP level and binding to CFTR protein pathways. The results provide new clues in elucidating structure and activity relationship of flavonoid CFTR activators. HMF might be developed as a new drug in the therapy of CFTR-related diseases such as bronchiectasis and habitual constipation. PMID:25896054

  19. Emotional health in children and adolescents with cystic fibrosis.

    Science.gov (United States)

    Pop-Jordanova, Nada; Demerdzieva, Aneta

    2016-01-01

    Although modern therapeutic procedures have considerably improved the survival and the quality of life of children with cystic fibrosis, the relevant psychological aspects have been still insufficiently considered similarly to the other chronic diseases. The aim of this research was to evaluate the emotional health: psychological characteristics and adjustment of CF children and their family coping. The study comprises 25 CF children, mean age 13.13 ± 2.29 years (23 boys and only 2 girls), selected from total 60 actually treated children for CF. Children were examined in the period of improved health conditions (without superinfection, wheezing or gastrointestinal problems). Obtained results are compared with a control group of 25 healthy children of the same age, selected by random from primary schools. The psychometric instruments used were: Kohs Design Test, Child Behavior Checklist, Eysenck Personality Questionnaire, General Anxiety Scale, Emotional Profile Index, MMPI-201 and Human Values Test, together with two projective tests of drawing (Machover and Corman). The unexpected good psychological results obtained from psychometric instruments could be explained by the fact that CF children accept the real situation and express vivacity. However, their deep feelings of fear impose on them high level of self-control and resistance. The results obtained for CBCL presented CF children as immature, with accentuated aggressiveness in interpersonal relations. The most important problem is related to the delay of puberty changes, leading to low self-esteem. Generally, family members cope relatively well with the disease in children, in spite to discrepancies in mother/child reports for child psychopathology. Divorces also occurred in some families. Psychological support for both, children and family members are necessary. The need for a holistic approach in the assessment and treatment, including biofeedback techniques was pointed out. PMID:27442418

  20. Draft Genome Sequences of Burkholderia contaminans, a Burkholderia cepacia Complex Species That Is Increasingly Recovered from Cystic Fibrosis Patients

    OpenAIRE

    Bloodworth, Ruhi A M; Selin, Carrie; López De Volder, Maria Agustina; Drevinek, Pavel; Galanternik, Laura; Degrossi, José; Cardona, Silvia T.

    2015-01-01

    Burkholderia contaminans belongs to the Burkholderia cepacia complex (BCC), a group of bacteria that are ubiquitous in the environment and capable of infecting the immunocompromised and people with cystic fibrosis. We report here draft genome sequences for the B. contaminans type strain LMG 23361 and an Argentinian cystic fibrosis sputum isolate.