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Sample records for fibrosis cf patients

  1. Fatty acyltranferases in serum in cystic fibrosis (CF) patients

    International Nuclear Information System (INIS)

    Zielenski, J.; Newman, L.J.; Slomiany, B.L.; Slomiany, A.

    1987-01-01

    Studies on serum and gastrointestinal secretion from CF patient is suggest that defective accumulation of mucus in gastrointestinal tract and excessive amount of a protease resistant peptides in serum are related to the abnormal activity of enzymes responsible for fatty acylation of proteins. Here, the authors investigated the fatty acyltransferase activities in serum of normal and CF patients. A 15μl of serum was mixed with 0.85 nmol [ 14 C]palmitoyl CoA, 200μg of serine and threonine and incubated at 37 0 C for 30 min. The incubates were immediately frozen, dried extracted with C/M and chromatographed in chloroform/methanol/water. The incorporation of [ 14 C]palmitate was determined using linear radioscanner and authoradiography. The results of HPTLC revealed that CF serum in addition of ACAT and LCAT contained enzymes responsible for the transfer of [ 14 C]palmitate to monoacylphosphoglycerides, and serine and threonine. In normal serum the formation of a small amount of palmitoyl serine and palmitoyl threonine was also observed but the acylation of monoacylphosphoglycerides was not detectable. The authors conclude that in cystic fibrosis the abnormal fatty acyltransferases are responsible for the occurrence of protease resistant glycoprotein, unusual peptides in serum and possibly for the modification of membrane proteins and lipids

  2. Cystic Fibrosis (CF): Chloride Sweat Test

    Science.gov (United States)

    ... on this topic for: Parents Kids Teens Cystic Fibrosis Cystic Fibrosis and Nutrition Cystic Fibrosis (CF) Respiratory Screen: Sputum Cystic Fibrosis: Diet and Nutrition Cystic Fibrosis Cystic Fibrosis: Diet and Nutrition View more Partner Message ...

  3. Cystic Fibrosis (CF) Respiratory Screen: Sputum

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Cystic Fibrosis (CF) Respiratory Screen: Sputum KidsHealth / For Parents / Cystic Fibrosis (CF) Respiratory Screen: Sputum What's in this article? ...

  4. Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis (CF).

    Science.gov (United States)

    Henneman, L; Bramsen, I; Van Os, T A; Reuling, I E; Heyerman, H G; van der Laag, J; van der Ploeg, H M; ten Kate, L P

    2001-01-01

    Assessing the reproductive choices of parents of children with cystic fibrosis (CF) is important in getting a greater insight into the possible needs for counselling of carrier couples in the reproductive decision-making process. Also, parents' reproductive attitudes might indicate critical issues for discussion with regard to introducing general population screening programmes. Data were available from two groups of subjects: 287 adult patients with CF (mean age 27.5 years) and 288 parents of a child with CF (mean age of child 7.7 years) who participated in a Dutch national survey. Attitudes towards reproductive issues and carrier screening and parents' reproductive behaviour were analysed in terms of responses to questionnaires. To avoid having another child with CF, most parents decided against further pregnancies or used other reproductive options. Prenatal diagnosis was used by 72% of parents, whereas 76% of parents planning more children intended using this option. Intention to use prenatal diagnosis was associated with the strength of religious conviction, and was not associated with perceived severity of CF, health of the child, or future therapeutic possibilities. Respondents demonstrated difficulties in deciding to abort for CF. A majority of parents and adult patients supported carrier couple identification within CF families. The results suggest that those most closely involved with CF will accept the reproductive choices of carrier couples identified in population screening programmes. Copyright 2001 John Wiley & Sons, Ltd.

  5. Physiological response during activity programs using Wii-based video games in patients with cystic fibrosis (CF).

    Science.gov (United States)

    del Corral, Tamara; Percegona, Janaína; Seborga, Melisa; Rabinovich, Roberto A; Vilaró, Jordi

    2014-12-01

    Patients with cystic fibrosis (CF) are characterized by an abnormal ventilation response that limits the exercise capacity. Exercise training increases exercise capacity, decreases dyspnea and improves health-related quality of life in CF. Adherence to pulmonary rehabilitation programs is a key factor to guarantee optimal benefits and a difficult goal in this population. The aim of this study was to determine the physiological response during three Nintendo Wii™ video game activities (VGA) candidates to be used as training modalities in patients with CF. 24 CF patients (age 12.6±3.7 years; BMI 18.8±2.9kgm(-2); FEV1 93.8±18.8%pred) were included. All participants performed, on two separate days, 3 different VGA: 1) Wii Fit Plus (Wii-Fit); 2) Wii Active (Wii-Acti), and 3) Wii Family Trainer (Wii-Train), in random order during 5min. The obtained results were compared with the 6-min walk test (6MWT). The physiological variables [oxygen uptake (VO2), minute ventilation (VE), and heart rate (HR)] were recorded using a portable metabolic analyzer. During all VGA and 6MWT, VO2 reached a plateau from the 3rd min. Compared with the 6MWT (1024.2±282.2mLm(-1)), Wii-Acti (1232.2±427.2mLm(-1)) and Wii-Train (1252.6±360.2mLm(-1)) reached higher VO2 levels during the last 3min (pvideo game are well tolerated by patients with CF. All the modalities evaluated imposed a constant load but were associated with different physiological responses reflecting the different intensities imposed. Wii-Acti and Wii-Train impose a significantly high metabolic demand comparable to the 6MWT. Further research is needed to evaluate the effects of VGA as a training program to increase exercise capacity for CF patients. Copyright © 2014 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  6. Population structure and characterization of viridans group streptococci (VGS) including Streptococcus pneumoniae isolated from adult patients with cystic fibrosis (CF).

    Science.gov (United States)

    Maeda, Yasunori; Elborn, J Stuart; Parkins, Michael D; Reihill, James; Goldsmith, Colin E; Coulter, Wilson A; Mason, Charlene; Millar, B Cherie; Dooley, James S G; Lowery, Colm J; Ennis, Madeleine; Rendall, Jacqueline C; Moore, John E

    2011-03-01

    A study was undertaken to examine the population structure of viridans group streptococci (VGS) in the sputum of adult patients with cystic fibrosis (CF). Freshly expectorated sputa (n=58) from 45 adult CF patients were examined by selective conventional culture on Mitis-Salivarius agar and yielded 190 isolates of VGS. Sequence analyses of the rpnB and 16-23S rRNA ITS genes identified these isolates to belong to 12 species of VGS and included S. anginosus, S. australis, S. cristatus, S. gordonii, S. infantis, S. mitis, S. mutans, S. oralis, S. parasanguinis, S. pneumoniae, S. salivarius and S. sanguinis. The most frequently VGS organism isolated was S. salivarius (47/190; 24.7%), followed by S. mitis (36/190; 19%), S. sanguinis (25/190; 13.2%), S. oralis (20/190; 11.0%), S. pneumoniae (19/190; 10.0%), S. parasanguinis (16/190; 8.4%), S. infantis (11/190; 5.8%), S. gordonii (7/190; 3.7%), S. anginosus (4/190; 2.1%), S. cristatus (2/190; 1.1%), S. australis (1/190; 0.5%), S. mutans (1/190; 0.5%) and S. agalactiae (1/190; 0.5%). All, but four, patients harboured at least one VGS species, which ranged from one to five streptococcal species, with a mean of 2.85 species per patient. There was no clonality at the subspecies level employing ERIC RAPD PCR. Antibiotic susceptibility was determined by Minimum Inhibitory Concentration (MIC) testing against penicillin, erythromycin and ciprofloxacin. Overall, resistance to penicillin with all VGS was 73/190 (38.4%) and 167/190 (87.9%) for erythromycin. With regard to ciprofloxacin, 27/190 (14.2%) were fully resistant, whilst a further 21/190 (11.1%) showed intermediate resistance, which equated to approximately three quarters (74.7%) of isolates being fully sensitive to this agent. In addition, as a comparator control population, we examined antibiotic susceptibility, as above, in a non-CF population comprising 12 individuals (50 VGS isolates), who were not receiving chronic antibiotics. In comparison, 8% and 38% of VGS

  7. Exercise and Cystic Fibrosis (CF)

    Science.gov (United States)

    ... life-long” activities, like biking or hiking. Watching TV and playing video games keep kids from being ... and Longevity. CF Services Newsletter, HomeLine Guest Author Series, May 2002, www.cfservicespharmacy.com Exercise - The Facts. ...

  8. Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients.

    Science.gov (United States)

    Kilinç, Mehmet Okyay; Ninis, Vasiliki Ninidu; Dağli, Elif; Demirkol, Mübeccel; Ozkinay, Ferda; Arikan, Zeliha; Coğulu, Ozgür; Hüner, Gülden; Karakoç, Fazilet; Tolun, Aslihan

    2002-12-01

    We analyzed the CFTR locus in 83 Turkish cystic fibrosis patients to identify mutations, haplotypes, and the carrier frequency in the population. We detected 36 different mutations in 125 (75%) of the total 166 CF chromosomes. Seven novel mutations were identified: four missense (K68E, Q493P, E608G, and V1147I), two splice-site (406 -3T > C and 3849 +5G > A), and one deletion (CFTRdele17b,18). The data showed that the Turkish population has the highest genetic heterogeneity at the CFTR locus reported so far. The results of this thorough molecular analysis at the CFTR locus of a population not of European descent shows that CF is not uncommon in all such populations. The large number of mutations present, as well as the high heterogeneity in haplotypes associated with the mutations suggests that most of the mutations have persisted for a long time in the population. Consistently, the carrier frequency is assessed to be high, indicating that the disease in the population is ancient. Copyright 2002 Wiley-Liss, Inc.

  9. Laboratory Diagnosis and Characterization of Fungal Disease in Patients with Cystic Fibrosis (CF): A Survey of Current UK Practice in a Cohort of Clinical Microbiology Laboratories.

    Science.gov (United States)

    Boyle, Maeve; Moore, John E; Whitehouse, Joanna L; Bilton, Diana; Downey, Damian G

    2018-03-02

    There is much uncertainty as to how fungal disease is diagnosed and characterized in patients with cystic fibrosis (CF). A 19-question anonymous electronic questionnaire was developed and distributed to ascertain current practice in clinical microbiology laboratories providing a fungal laboratory service to CF centres in the UK. Analyses of responses identified the following: (1) current UK laboratory practice, in general, follows the current guidelines, but the scope and diversity of what is currently being delivered by laboratories far exceeds what is detailed in the guidelines; (2) there is a lack of standardization of fungal tests amongst laboratories, outside of the current guidelines; (3) both the UK CF Trust Laboratory Standards for Processing Microbiological Samples from People with Cystic Fibrosis and the US Cumulative Techniques and Procedures in Clinical Microbiology (Cumitech) Guidelines 43 Cystic Fibrosis Microbiology need to be updated to reflect both new methodological innovations, as well as better knowledge of fungal disease pathophysiology in CF; (4) there is a need for clinical medicine to decide upon a stratification strategy for the provision of new fungal assays that will add value to the physician in the optimal management of CF patients; (5) there is also a need to rationale what assays should be performed at local laboratory level and those which are best served at National Mycology Reference Laboratory level; and (6) further research is required in developing laboratory assays, which will help ascertain the clinical importance of 'old' fungal pathogens, as well as 'emerging' fungal pathogens.

  10. Scandinavian Nurse Specialist Group/Cystic Fibrosis (SNSG/CF)

    DEFF Research Database (Denmark)

    Bregnballe, Vibeke; Erwander, Inger

    2006-01-01

    /CF comprises one CF nurse from each of the centers. The board meets twice a year to plan workshops and courses. SNSG/CF is part of the International Nurse Specialist Group/Cystic Fibrosis (INSG/CF). Results: Within the framework of SNSG/CF a 2-day workshop is held every second year for approximately 40...

  11. Influence of breathing pattern on pulmonary aerosol deposition in patients with cystic fibrosis (CF): A pharmacokinetic approach

    NARCIS (Netherlands)

    Van Velzen, A.J.; Uges, J.W.F.; Le Brun, P.P.H.; Shahbabai, P.; Touw, D.J.; Heijerman, H.G.M.

    2014-01-01

    The therapeutic effect of inhaled antibiotics on lung infection in CF patients is dependent on the aerosol deposition achieved in the lungs. Objectives: To evaluate the influence of two breathing patterns on pulmonary aerosol deposition using pharmacokinetic parameters as surrogate for deposition.

  12. Early detection of Pseudomonas aeruginosa – comparison of conventional versus molecular (PCR detection directly from adult patients with cystic fibrosis (CF

    Directory of Open Access Journals (Sweden)

    Moore John E

    2004-10-01

    Full Text Available Abstract Background Pseudomonas aeruginosa (PA is the most important bacterial pathogen in patients with cystic fibrosis (CF patients. Currently, routine bacteriological culture on selective/non- selective culture media is the cornerstone of microbiological detection. The aim of this study was to compare isolation rates of PA by conventional culture and molecular (PCR detection directly from sputum. Methods Adult patients (n = 57 attending the regional adult CF centre in Northern Ireland, provided fresh sputum following airways clearance exercise. Following processing of the specimen with sputasol (1:1 vol, the specimen was examined for the presence of PA by plating onto a combination of culture media (Pseudomonas isolation agar, Blood agar & McConkey agar. In addition, from the same specimen, genomic bacterial DNA was extracted (1 ml and was amplified employing two sequence-specific targets, namely (i the outer membrane protein (oprL gene locus and (ii the exotoxin A (ETA gene locus. Results By sputum culture, there were 30 patients positive for PA, whereas by molecular techniques, there were 35 positive patients. In 39 patients (22 PA +ve & 17 PA -ve, there was complete agreement between molecular and conventional detection and with both PCR gene loci. The oprL locus was more sensitive than the ETA locus, as the former was positive in 10 more patients and there were no patients where the ETA was positive and the oprL target negative. Where a PCR +ve/culture -ve result was recorded (10 patients, we followed these patients and recorded that 5 of these patients converted to being culture-positive at times ranging from 4–17 months later, with a mean lag time of 4.5 months. Conclusions This study indicates that molecular detection of PA in sputum employing the oprL gene target, is a useful technique in the early detection of PA, gaining on average 4.5 months over conventional culture. It now remains to be established whether aggressive antibiotic

  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. Gastrointestinal transit times and motility in patients with cystic fibrosis

    DEFF Research Database (Denmark)

    Hedsund, Caroline; Gregersen, Tine; Jønsson, Iben

    2012-01-01

    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...

  15. Rehabilitation Programs for Cystic Fibrosis ? View from a CF Center

    OpenAIRE

    Griese, M; Busch, P; Caroli, D; Mertens, B; Eismann, C; Harari, M; Staudter, H; Kappler, M

    2010-01-01

    Background: Rehabilitation programs are comprehensive interventions which effectively improve the health status and reduce costs in chronic respiratory illnesses. Because patients with cystic fibrosis have been discouraged to participate for concerns of microbial cross infection, the efficacy of systematic rehabilitation is unknown for this group. Methods: We retrospectively studied 142 cystic fibrosis patients aged 2-46 years who participated in rehabilitation programs taking place in German...

  16. Molecular characterization of macrolide resistance determinants [erm(B) and mef(A)] in Streptococcus pneumoniae and viridans group streptococci (VGS) isolated from adult patients with cystic fibrosis (CF).

    Science.gov (United States)

    Tazumi, Akihiro; Maeda, Yasunori; Goldsmith, Colin E; Coulter, Wilson A; Mason, Charlene; Millar, B Cherie; McCalmont, Mark; Rendall, Jackie; Elborn, J Stuart; Matsuda, Motoo; Moore, John E

    2009-09-01

    Although long-term use of azithromycin has shown a significant clinical improvement for patients with cystic fibrosis (CF), its long-term effect on the susceptibility of commensal flora within CF airways has not yet been examined. We therefore suggest that long-term use of azithromycin increases macrolide resistance in commensal streptococci. Erythromycin susceptibility in naturally colonizing viridans group streptococci (VGS) was characterized, as well as macrolide resistance gene determinants through sequence analysis, in pneumococci (n = 15) and VGS [n = 84; i.e. Streptococcus salivarius (n = 30), Streptococcus mitis (n = 17), Streptococcus sanguinis (n = 11), Streptococcus oralis (n = 10), Streptococcus parasanguinis (n = 6), Streptococcus gordonii (n = 3), Streptococcus infantis (n = 3), Streptococcus cristatus (n = 2), Streptococcus anginosus (n = 1) and Streptococcus australis (n = 1)] isolated from sputum from 24 adult CF patients, who were on oral azithromycin therapy for at least the previous 7 months. Almost three-quarters of isolates (74; 74.7%) were resistant to erythromycin, whilst a further 15 (15.2%) had reduced susceptibility, leaving only 10 (10.1%) isolates susceptible to erythromycin. The majority (89.8%) were not susceptible to erythromycin, as demonstrated by possession of the erm(B) gene in 25/99 (25.3%), the mef(A) gene in 1/99 (1.0%), the mef(E) gene in 75/99 (75.8%) and both erm(B) and mef(E) genes simultaneously in 11/99 (11.1%). These results indicate that genotypic resistance for macrolides is common in VGS in adult CF patients, with efflux being over three times more frequent. Long-term treatment with azithromycin in CF patients may reduce antibiotic susceptibility in commensal VGS, where these organisms may potentially act as a reservoir of macrolide resistance determinants for newly acquired and antibiotic-susceptible pathogens.

  17. 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. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. Evolution and Pathoadaptation of Pseudomonas aeruginosa in Cystic Fibrosis Patients

    DEFF Research Database (Denmark)

    Marvig, Rasmus Lykke

    is the dominating pathogen of chronic airway infections in patients with cystic fibrosis (CF), and the bacterial long-term persistence in CF hosts involves mutation and selection of genetic variants with increased fitness in the CF airways. We performed a retrospective study of the P. aeruginosa DK2 clone type...

  19. 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...

  20. Persistent fat malabsorption in cystic fibrosis; lessons from patients and mice

    NARCIS (Netherlands)

    Wouthuyzen-Bakker, M; Bodewes, F A J A; Verkade, H J

    Fat malabsorption in pancreatic insufficient cystic fibrosis (CF) patients is classically treated with pancreatic enzyme replacement therapy (PERT). Despite PERT, intestinal fat absorption remains insufficient in most CF patients. Several factors have been suggested to contribute to the persistent

  1. 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....

  2. What Makes Pseudomonas Aeruginosa Persist in the Lungs of CF Patients?

    DEFF Research Database (Denmark)

    Johansen, H.; Madsen Sommer, Lea Mette; Marvig, Rasmus Lykke

    2015-01-01

    The most important problem for cystic fibrosis (CF) patients is the airway infections responsible for the gradually decreasing lung function as the infections persist. We have investigated properties that may be involved in persistence of P. aeruginosa (PA) in the lungs of young CF children...

  3. 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...

  4. 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...

  5. Breakthrough Therapies: Cystic Fibrosis (CF) Potentiators and Correctors

    Science.gov (United States)

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

    2015-01-01

    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 is also emphasized. PMID:26097168

  6. Tuberculosis reinfection in a pregnant cystic fibrosis patient

    OpenAIRE

    Marco, Asween; Montales, Maria Theresa; Mittadodla, Penchala; Mukasa, Leonard; Bhaskar, Nutan; Bates, Joseph; Patil, Naveen

    2015-01-01

    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 ...

  7. Inspiratory muscle training in patients with cystic fibrosis

    NARCIS (Netherlands)

    de Jong, W.; van Aalderen, W. M.; Kraan, J.; Koëter, G. H.; van der Schans, C. P.

    2001-01-01

    Little information is available about the effects of inspiratory muscle training in patients with cystic fibrosis (CF). In this study the effects of inspiratory-threshold loading in patients with CF on strength and endurance of the inspiratory muscles, pulmonary function, exercise capacity, dyspnoea

  8. Inspiratory muscle training in patients with cystic fibrosis

    NARCIS (Netherlands)

    de Jong, W.; van Aalderen, W.M.C.; Kraan, J.; Koeter, G.H.; van der Schans, C.P.

    Little information is available about the effects of inspiratory muscle training in patients with cystic fibrosis (CF). In this study the effects of inspiratory-threshold loading in patients with CF on strength and endurance of the inspiratory muscles, pulmonary function, exercise capacity, dyspnoea

  9. 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.

  10. Diagnosis of cystic fibrosis in a patient of Egyptian background.

    Science.gov (United States)

    Yoshida, Rie; Ruge, Bobby

    2016-10-20

    Cystic fibrosis (CF) is the most common genetically inherited condition in European-derived populations. However, it is being increasingly recognised in other populations, including people of Asian, Black African and Caribbean descent. We present a case detailing the diagnosis of CF in a 12-year-old patient of Egyptian background who had been treated for difficult asthma. In doing so, we aim to highlight the importance of considering CF in all patients, regardless of ethnicity. 2016 BMJ Publishing Group Ltd.

  11. Uptake of genetic counselling services by patients with cystic fibrosis ...

    African Journals Online (AJOL)

    2011-05-09

    May 9, 2011 ... Original Research: Uptake of genetic counselling services by patients with cystic fibrosis and their families. 250. Vol 54 No 3. S Afr Fam Pract 2012. Introduction. Cystic fibrosis (CF) is a chronic, inherited disorder that affects the respiratory tract, pancreas, gastrointestinal system, exocrine sweat glands, and ...

  12. Viruses in cystic fibrosis patients' airways.

    Science.gov (United States)

    Billard, Lisa; Le Berre, Rozenn; Pilorgé, Léa; Payan, Christopher; Héry-Arnaud, Geneviève; Vallet, Sophie

    2017-11-01

    Although bacteria have historically been considered to play a major role in cystic fibrosis (CF) airway damage, a strong impact of respiratory viral infections (RVI) is also now recognized. Emerging evidence confirms that respiratory viruses are associated with deterioration of pulmonary function and exacerbation and facilitation of bacterial colonization in CF patients. The aim of this review is to provide an overview of the current knowledge on respiratory viruses in CF airways, to discuss the resulting inflammation and RVI response, to determine how to detect the viruses, and to assess their clinical consequences, prevalence, and interactions with bacteria. The most predominant are Rhinoviruses (RVs), significantly associated with CF exacerbation. Molecular techniques, and especially multiplex PCR, help to diagnose viral infections, and the coming rise of metagenomics will extend knowledge of viral populations in the complex ecosystem of CF airways. Prophylaxis and vaccination are currently available only for Respiratory syncytial and Influenza virus (IV), but antiviral molecules are being tested to improve CF patients' care. All the points raised in this review highlight the importance of taking account of RVIs and their potential impact on the CF airway ecosystem.

  13. 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

  14. Nasal polyposis and cystic fibrosis(CF): review of the literature.

    Science.gov (United States)

    Feuillet-Fieux, M N; Lenoir, G; Sermet, I; Elie, C; Djadi-Prat, J; Ferrec, M; Magen, M; Couloigner, V; Manach, Y; Lacour, B; Bonnefont, J P

    2011-08-01

    The aim of this study was to address whether NP might be a predictive factor for severity of CF. The authors collected data from the literature on NP as a unique or associated sign in CF and reviewed the clinical and molecular aspects of CF associated with NP. CF genotypes and clinical severity in NP(+) vs. NP(-) patients were reviewed, taking into account pulmonary function, frequency of P. aeruginosa lung infection, frequency of allergy, nutritional status, and exocrine pancreatic function. The CFTR gene was also analyzed in a patient with isolated severe NP as the unique feature of CF. This review of the literature showed a `milder` phenotype in `NP+` vs. `NP-` CF patients, contrasting with a marked association between NP and `severe` CF mutations. In addition, a complex genotype was identified, associating four heterozygous variants, namely p.Q493X (a severe mutation) on the paternal allele, and p.V562I, p.A1006E, and (TG)11(T)5 (IVS8-5T) on the maternal allele, in a case of CF presenting as isolated NP. The authors speculate that genetic/environmental factors associated with NP might attenuate the functional impact of `severe` CF mutations. The overrepresentation of CF carriers among patients with isolated NP also advocates the need for CFTR molecular screening in such populations for genetic counselling purposes.

  15. Relative contribution of Prevotella intermedia and Pseudomonas aeruginosa to lung pathology in airways of patients with cystic fibrosis

    DEFF Research Database (Denmark)

    Ulrich, Martina; Beer, Isabelle; Braitmaier, Peter

    2010-01-01

    Patients with cystic fibrosis (CF) with Pseudomonas aeruginosa lung infections produce endobronchial mucus plugs allowing growth of obligate anaerobes including Prevotella spp. Whether obligate anaerobes contribute to the pathophysiology of CF lung disease is unknown....

  16. EXERCISE TESTING AND TRAINING WITH THE YOUNG CYSTIC FIBROSIS PATIENT

    Directory of Open Access Journals (Sweden)

    Daniel Stevens

    2007-09-01

    Full Text Available 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 improve the functional capacity and quality of life of the young CF patient. There is a growing awareness and belief among clinicians of the benefits of exercise testing and training, however, recent work suggests that exercise is being underused in the healthcare management of the CF patient. More research is needed to identity which exercise tests and training programmes would be most feasible to incorporate into CF centres routine clinical procedures

  17. Respiratory muscle function in patients with cystic fibrosis.

    Science.gov (United States)

    Dassios, Theodore; Katelari, Anna; Doudounakis, Stavros; Mantagos, Stefanos; Dimitriou, Gabriel

    2013-09-01

    Respiratory muscle function in patients with cystic fibrosis (CF) can be assessed by measurement of maximal inspiratory pressure (Pimax ), maximal expiratory pressure (Pemax ), and pressure-time index of the respiratory muscles (PTImus ). We investigated the differences in maximal respiratory pressures and PTImus between CF patients with no gross hyperinflation and healthy controls and described the effects of pulmonary function and nutrition impairment on respiratory muscle function in this group of CF patients. Forced expiratory volume in 1 sec (FEV1 ), forced vital capacity (FVC) and maximal expiratory flow between 25% and 75% of VC (MEF25-75 ), body mass index (BMI), upper arm muscle area (UAMA), Pimax , Pemax , and PTImus were assessed in 140 CF patients and in a control group of 140 healthy subjects matched for age and gender. Median Pimax and Pemax were significantly lower in CF patients compared to the controls [Pimax  = 74 (57-94) in CF vs. 84 (66-102) in controls, P = 0.009], [Pemax  = 71 (50-95) in CF vs. 84 (66-102) in controls, P function. In CF patients, PTImus was significantly negatively related to upper arm muscle area (r = 0.184, P = 0.031). These findings suggest that CF patients with no severe lung disease compared to healthy subjects exhibit impaired respiratory muscle function, while CF patients with impaired pulmonary function and nutrition indices exhibit higher PTImus values. Copyright © 2012 Wiley Periodicals, Inc.

  18. Determinants of respiratory pump function in patients with cystic fibrosis.

    Science.gov (United States)

    Dassios, Theodore

    2015-01-01

    Respiratory failure constitutes the major cause of morbidity and mortality in patients with Cystic Fibrosis (CF). Respiratory failure could either be due to lung parenchyma damage or to insufficiency of the respiratory pump which consists of the respiratory muscles, the rib cage and the neuromuscular transmission pathways. Airway obstruction, hyperinflation and malnutrition have been historically recognised as the major determinants of respiratory pump dysfunction in CF. Recent research has identified chronic infection, genetic predisposition, dietary and pharmaceutical interventions as possible additional determinants of this impairment. Furthermore, new methodological approaches in assessing respiratory pump function have led to a better understanding of the pathogenesis of respiratory pump failure in CF. Finally, respiratory muscle function could be partially preserved in CF patients with structured interventions such as aerobic exercise, inspiratory muscle training and non-invasive ventilation and CF patients could consequently be relatively protected from respiratory fatigue and respiratory failure. Copyright © 2014 Elsevier Ltd. All rights reserved.

  19. The psychometric properties of the Leicester Cough Questionnaire and Respiratory Symptoms in CF tool in cystic fibrosis: A preliminary study.

    Science.gov (United States)

    Ward, Nathan; Stiller, Kathy; Rowe, Hilary; Holland, Anne E

    2017-05-01

    There are few tools to quantify the impact of cough in cystic fibrosis (CF). The psychometric properties of the Leicester Cough Questionnaire (LCQ) and Respiratory Symptoms in CF (ReS-CF) tool were investigated in adults with CF. Validity and reliability were assessed in clinically stable participants who completed the questionnaires twice, along with the Cystic Fibrosis Questionnaire - Revised (CFQ-R). Responsiveness was assessed by change in questionnaires following treatment for an acute respiratory exacerbation. Correlations between the LCQ and CFQ-R respiratory domain were moderate (n=59, r s =0.78, p<0.001). Correlations between ReS-CF and CFQ-R respiratory domain were fair (r s =-0.50, p<0.001). The LCQ total score was repeatable (ICC 0.92, 95%CI 0.87-0.96, n=50). In those reporting improvement in symptoms following treatment (n=36), LCQ total score had a mean change of 4.6 (SD 3.7) and effect size of 1.2. The LCQ and ReS-CF appear to be valid, reliable and responsive in CF. www.anzctr.org.au: ACTRN12615000262505. Copyright © 2016 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  20. The Use of Home Spirometry in Pediatric Cystic Fibrosis Patients

    Directory of Open Access Journals (Sweden)

    Aarti Shakkottai MD

    2017-02-01

    Full Text Available Medication adherence is poor among pediatric cystic fibrosis (CF patients, with adolescents having one of the lowest adherence rates. We wanted to identify an adherence intervention that would be acceptable to CF adolescents and assess its feasibility. We surveyed 40 adolescents with CF and asked about barriers to and motivators for their own adherence and to generate ideas for potential adherence interventions. Since most of the respondents chose frequent spirometry at home and medication reminders for interventions, we selected 5 subjects, 10 to 14 years of age, with CF to test the feasibility of home spirometry and medication reminders in pediatric CF patients. This article summarizes the results of both the survey and the feasibility pilot study.

  1. 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...

  2. 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...

  3. Chronic pulmonary infection with Stenotrophomonas maltophilia and lung function in patients with cystic fibrosis

    DEFF Research Database (Denmark)

    Dalbøge, C S; Hansen, C R; Pressler, T

    2011-01-01

    Background The clinical consequences of chronic Stenotrophomonas maltophilia infection in cystic fibrosis (CF) patient are still unclear. Method All patients treated in the Copenhagen CF centre (N=278) from 1 January 2008 to 31 December 2009 were included. Each patient chronically infected with S...

  4. Relationship between dyspnoea, pulmonary function and exercise capacity in patients with cystic fibrosis

    NARCIS (Netherlands)

    deJong, W; vanderSchans, CP; Mannes, GPM; vanAalderen, WMC; Grevink, RG; Koeter, GH

    The median age of survival in patients with cystic fibrosis (CF) has improved considerably. Despite this improvement, deterioration of pulmonary function and decrease in exercise capacity are still the main problems for many patients. Although dyspnoea is a common complaint in CF patients,

  5. Relationship between dyspnoea, pulmonary function and exercise capacity in patients with cystic fibrosis

    NARCIS (Netherlands)

    de Jong, W.; van der Schans, C. P.; Mannes, G. P.; van Aalderen, W. M.; Grevink, R. G.; Koëter, G. H.

    1997-01-01

    The median age of survival in patients with cystic fibrosis (CF) has improved considerably. Despite this improvement, deterioration of pulmonary function and decrease in exercise capacity are still the main problems for many patients. Although dyspnoea is a common complaint in CF patients,

  6. Data Mining of Lung Microbiota in Cystic Fibrosis Patients.

    Science.gov (United States)

    Li, Jianguo; Hao, Chunyan; Ren, Lili; Xiao, Yan; Wang, Jianwei; Qin, Xuemei

    2016-01-01

    The major therapeutic strategy used to treat exacerbated cystic fibrosis (CF) is antibiotic treatment. As this approach easily generates antibiotic-resistant strains of opportunistic bacteria, optimized antibiotic therapies are required to effectively control chronic and recurrent bacterial infections in CF patients. A promising future for the proper use of antibiotics is the management of lung microbiota. However, the impact of antibiotic treatments on CF microbiota and vice versa is not fully understood. This study analyzed 718 sputum samples from 18 previous studies to identify differences between CF and uninfected lung microbiota and to evaluate the effects of antibiotic treatments on exacerbated CF microbiota. A reference-based OTU (operational taxonomic unit) picking method was used to combine analyses of data generated using different protocols and platforms. Findings show that CF microbiota had greater richness and lower diversity in the community structure than uninfected control (NIC) microbiota. Specifically, CF microbiota showed higher levels of opportunistic bacteria and dramatically lower levels of commensal bacteria. Antibiotic treatment affected exacerbated CF microbiota notably but only transiently during the treatment period. Limited decrease of the dominant opportunistic bacteria and a dramatic decrease of commensal bacteria were observed during the antibiotic treatment for CF exacerbation. Simultaneously, low abundance opportunistic bacteria were thriving after the antibiotic treatment. The inefficiency of the current antibiotic treatment against major opportunistic bacteria and the detrimental effects on commensal bacteria indicate that the current empiric antibiotic treatment on CF exacerbation should be reevaluated and optimized.

  7. 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.

  8. Tuberculosis reinfection in a pregnant cystic fibrosis patient.

    Science.gov (United States)

    Marco, Asween; Montales, Maria Theresa; Mittadodla, Penchala; Mukasa, Leonard; Bhaskar, Nutan; Bates, Joseph; Patil, Naveen

    2015-01-01

    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.

  9. The Effect of Strict Segregation on Pseudomonas aeruginosa in Cystic Fibrosis Patients

    NARCIS (Netherlands)

    van Mansfeld, Rosa; de Vrankrijker, Angelica; Brimicombe, Roland; Heijerman, Harry; Teding van Berkhout, Ferdinand; Spitoni, Cristian|info:eu-repo/dai/nl/304625957; Grave, Sanne; van der Ent, Cornelis; Wolfs, Tom; Willems, Rob; Bonten, Marc

    2016-01-01

    INTRODUCTION: Segregation of patients with cystic fibrosis (CF) was implemented to prevent chronic infection with epidemic Pseudomonas aeruginosa strains with presumed detrimental clinical effects, but its effectiveness has not been carefully evaluated. METHODS: The effect of strict segregation on

  10. Allergic bronchopulmonary aspergillosis in patients with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Ibrahim Ahmed Janahi

    2017-01-01

    Full Text Available Allergic bronchopulmonary aspergillosis (ABPA is a pulmonary disorder that often occurs in patients with asthma or cystic fibrosis (CF and is characterized by a hypersensitivity response to the allergens of the fungus Aspergillus fumigatus. In patients with CF, growth of A. fumigatus hyphae within the bronchial lumen triggers an immunoglobulin E (IgE-mediated hypersensitivity response that results in airway inflammation, bronchospasm, and bronchiectasis. In most published studies, the prevalence of ABPA is about 8.9% in patients with CF. Since the clinical features of this condition overlap significantly with that of CF, ABPA is challenging to diagnose and remains underdiagnosed in many patients. Diagnosis of ABPA in CF patients should be sought in those with evidence of clinical and radiologic deterioration that is not attributable to another etiology, a markedly elevated total serum IgE level (while off steroid therapy and evidence of A. fumigatus sensitization. Management of ABPA involves the use of systemic steroids to reduce inflammation and modulate the immune response. In patients who do not respond to steroids or cannot tolerate them, antifungal agents should be used to reduce the burden of A. fumigatus allergens. Recent studies suggest that omalizumab may be an effective option to reduce the frequency of ABPA exacerbations in patients with CF. Further randomized controlled trials are needed to better establish the efficacy of omalizumab in managing patients with CF and ABPA.

  11. SERS detection of the biomarker hydrogen cyanide from Pseudomonas aeruginosa cultures isolated from cystic fibrosis patients

    DEFF Research Database (Denmark)

    Lauridsen, Rikke Kragh; Madsen Sommer, Lea Mette; Johansen, Helle Krogh

    2017-01-01

    Pseudomonas aeruginosa is the primary cause of chronic airway infections in cystic fibrosis (CF) patients. Persistent infections are seen from the first P. aeruginosa culture in about 75% of young CF patients, and it is important to discover new ways to detect P. aeruginosa at an earlier stage...

  12. Epidemiology of nontuberculous mycobacteria among patients with cystic fibrosis in Scandinavia

    DEFF Research Database (Denmark)

    Qvist, Tavs; Gilljam, Marita; Jönsson, Bodil

    2015-01-01

    BACKGROUND: Nontuberculous mycobacteria (NTM) are an emerging threat to cystic fibrosis (CF) patients but their epidemiology is not well described. METHODS: In this retrospective observational study we identified all Scandinavian CF patients with a positive NTM culture from airway secretions from...

  13. EFFECT OF A HOME EXERCISE TRAINING-PROGRAM IN PATIENTS WITH CYSTIC-FIBROSIS

    NARCIS (Netherlands)

    DEJONG, W; GREVINK, RG; ROORDA, RJ; KAPTEIN, AA; VANDERSCHANS, CP

    Physical training in patients with pulmonary diseases, including cystic fibrosis (CF), may improve exercise tolerance in these patients. Most training programs are performed in a clinical setting. Little information is available concerning the effect of home exercise training programs in CF

  14. Evolutionary insight from whole-genome sequencing of Pseudomonas aeruginosa from cystic fibrosis patients

    DEFF Research Database (Denmark)

    Marvig, Rasmus Lykke; Madsen Sommer, Lea Mette; Jelsbak, Lars

    2015-01-01

    The opportunistic pathogen Pseudomonas aeruginosa causes chronic airway infections in patients with cystic fibrosis (CF), and it is directly associated with the morbidity and mortality connected with this disease. The ability of P. aeruginosa to establish chronic infections in CF patients is sugg...

  15. Oxygen-assisted exercise training in adult cystic fibrosis patients with pulmonary limitation to exercise

    NARCIS (Netherlands)

    Heijerman, H. G.; Bakker, W.; Sterk, P. J.; Dijkman, J. H.

    1991-01-01

    Exercise training has been considered suitable only in cystic fibrosis (CF) patients with mild to moderate pulmonary dysfunction without progressive hypoxaemia during exercise. We trained 16 CF patients, all with advanced lung disease (mean standardized forced expiratory volume in 1 s (FEV1), 30%

  16. Patient factors associated with lung transplant referral and waitlist for patients with cystic fibrosis and pulmonary fibrosis.

    Science.gov (United States)

    Liu, Yuan; Vela, Monica; Rudakevych, Tanya; Wigfield, Christopher; Garrity, Edward; Saunders, Milda R

    2017-03-01

    Since 2005, the Lung Allocation Score (LAS) has prioritized patient benefit and post-transplant survival, reducing waitlist to transplant time to fibrosis (CF) and pulmonary fibrosis (PF). We analyzed the times from transplant eligibility to referral, work-up and waitlisting using Kaplan-Meier curves and log-rank tests. Overall, the referral rate for transplant-eligible patients was 64%. Of those referred, approximately 36% reach the lung transplant waitlist. Referred CF patients were significantly more likely to reach the transplant waitlist than PF patients (CF 60% vs PF 22%, p < 0.05). In addition, CF patients had a shorter wait from transplant eligibility to waitlist than PF patients (329 vs 2,369 days, respectively [25th percentile], p < 0.05). Patients with PF and CF both faced delays from eligibility to referral and waitlist. Quality improvement efforts are needed to better identify and refer appropriate patients for lung transplant evaluation. Targeted interventions may facilitate more efficient evaluation completion and waitlist appearance. Copyright © 2017 International Society for Heart and Lung Transplantation. Published by Elsevier Inc. All rights reserved.

  17. Genetic testing for cystic fibrosis in adult patients

    Directory of Open Access Journals (Sweden)

    Marina Mencinger

    2006-02-01

    Full Text Available Background: Cystic fibrosis (CF is an autosomal recessive disease caused by mutations in gene encoding cystic fibrosis transmembrane regulator (CFTR protein. Over 1400 mutations found in the gene contribute to the complexity of the CF phenotypes ranging from a classic multiorgan disease commonly involving respiratory, gastrointestinal and reproductive tract to mild and monosymptomatic presentations. Pilocarpine iontophoresis is considered as standard diagnostic test for CF, but it often fails in atypical forms of CF.Methods: In order to provide an additional diagnostic test to assure the diagnosis and provide patients with a proper medical care, we performed a genetic testing on 16 adults suspected to have atypical form of CF. Following counselling, parents of patients with possible homozygote variant of mutations were tested. On a personal request testing was also performed in an adult sibling of a patient with two known mutations to investigate possible carrier hood. The allele specific polymerase chain reaction method (PCR was used to detect 29 most common mutations in the cftr gene.Results: The diagnosis was proved in 3 individuals, a homozygote for Δ F508, and two compound heterozygotes Δ F508/R1162X and Δ F508/3849+10kbC>T. In three cases only one mutation was found: I148T, 2789+5G>A and Δ F508 in a heterozygote form.Conclusions: The genetic testing for CF is a valuable diagnostic tool in atypical forms of CF. Exclusion of possible differential diagnosis is warranted because of a variable CF phenotype. In cases where only one or no mutation was detected a necessity of whole gene sequencing is indicated to exclude rare mutations and polymorphisms that could be implicated in the pathogenesis of atypical CF.

  18. Practical Guidelines: Lung Transplantation in Patients with Cystic Fibrosis

    Science.gov (United States)

    Hirche, T. O.; Knoop, C.; Hebestreit, H.; Shimmin, D.; Solé, A.; Elborn, J. S.; Ellemunter, H.; Aurora, P.; Hogardt, M.; Wagner, T. O. F.; ECORN-CF Study Group

    2014-01-01

    There are no European recommendations on issues specifically related to lung transplantation (LTX) in cystic fibrosis (CF). The main goal of this paper is to provide CF care team members with clinically relevant CF-specific information on all aspects of LTX, highlighting areas of consensus and controversy throughout Europe. Bilateral lung transplantation has been shown to be an important therapeutic option for end-stage CF pulmonary disease. Transplant function and patient survival after transplantation are better than in most other indications for this procedure. Attention though has to be paid to pretransplant morbidity, time for referral, evaluation, indication, and contraindication in children and in adults. This review makes extensive use of specific evidence in the field of lung transplantation in CF patients and addresses all issues of practical importance. The requirements of pre-, peri-, and postoperative management are discussed in detail including bridging to transplant and postoperative complications, immune suppression, chronic allograft dysfunction, infection, and malignancies being the most important. Among the contributors to this guiding information are 19 members of the ECORN-CF project and other experts. The document is endorsed by the European Cystic Fibrosis Society and sponsored by the Christiane Herzog Foundation. PMID:24800072

  19. Pseudomonas aeruginosa biofilms in the respiratory tract of cystic fibrosis patients

    DEFF Research Database (Denmark)

    Bjarnsholt, Thomas; Jensen, Peter Østrup; Fiandaca, Mark J

    2009-01-01

    The present study was undertaken to investigate the appearance and location of Pseudomonas aeruginosa in the cystic fibrosis (CF) lung and in sputum. Samples include preserved tissues of CF patients who died due to chronic P. aeruginosa lung infection prior to the advent of intensive antibiotic...

  20. Simulation of the Cystic Fibrosis patient airway habitats using microfluidic devices

    DEFF Research Database (Denmark)

    Skolimowski, Maciej

    2013-01-01

    affecting human airways is cystic fibrosis. Cystic fibrosis (CF) patients suffer from a genetic defect that influences the salt transport over the cell membranes. Due to this effect, the mucus layer becomes very viscous as the defect in salt transport inhibit diffusion of and establishment of the important...... of treating infections in CF patients. Therefore, in this work we propose novel microfluidic devices that on one hand can mimic different airway environments by controlling the oxygen levels and on the other hand can mimic the microenvironment of the cystic fibrosis bronchi....

  1. Autoantibodies in serum and sputum from patients with cystic fibrosis.

    Science.gov (United States)

    Schiøtz, P O; Egeskjold, E M; Høiby, N; Permin, H

    1979-10-01

    Sera from 89 patients with cystic fibrosis (CF) and 88 control persons were examined for the occurrence of rheumatoid factors (RF) of the IgG, IgA and IgM classes by an indirect immunofluorescence method and by the latex fixation slide test. The prevalence of RF-IgG was significantly higher (88%) (p less than 0.0005) among the CF patients than among the control persons (7%), while no difference was found between the two groups with regard to RF of the IgA or IgM classes. Fifty-five of the CF patients had chronic Pseudomonas aeruginosa infection in their lungs and two or more precipitins against these bacteria in their sera determined by crossed immunoelectrophoresis. These CF patients did not differ from the 34 CF patients without chronic P. aeruginosa infection, neither with regard to prevalence nor titer of RFs, but there was a positive correlation between the number of P. aeruginosa precipitins in the 55 chronically infected CF patients and their titers of IgG-RF. Nineteen CF patients were examined also for RFs, antinuclear antibodies (ANA) and anti-DNA antibodies in their sputum sol phase and corresponding sera. RFs were demonstrated in the sputum sol phase from 6 of the patients by the latex fixation test, whereas their sera were negative in this test, possibly indicating a local production of RF. Positive reactions for ANA and anti-DNA antibodies were found in 7 and 10 of the sputa respectively, and in higher titers than in the corresponding sera, also suggesting a local production. Titers of autoantibodies in sputum were low and no difference was found between patients with chronic P. aeruginosa infection and patients without P. aeruginosa infection. The possible role of autoantibodies in the patogenesis of pulmonary tissue damage in CF patients is discussed.

  2. Quality assessment of expert answers to lay questions about cystic fibrosis from various language zones in Europe: the ECORN-CF project

    Directory of Open Access Journals (Sweden)

    d'Alquen Daniela

    2012-02-01

    Full Text Available Abstract Background The European Centres of Reference Network for Cystic Fibrosis (ECORN-CF established an Internet forum which provides the opportunity for CF patients and other interested people to ask experts questions about CF in their mother language. The objectives of this study were to: 1 develop a detailed quality assessment tool to analyze quality of expert answers, 2 evaluate the intra- and inter-rater agreement of this tool, and 3 explore changes in the quality of expert answers over the time frame of the project. Methods The quality assessment tool was developed by an expert panel. Five experts within the ECORN-CF project used the quality assessment tool to analyze the quality of 108 expert answers published on ECORN-CF from six language zones. 25 expert answers were scored at two time points, one year apart. Quality of answers was also assessed at an early and later period of the project. Individual rater scores and group mean scores were analyzed for each expert answer. Results A scoring system and training manual were developed analyzing two quality categories of answers: content and formal quality. For content quality, the grades based on group mean scores for all raters showed substantial agreement between two time points, however this was not the case for the grades based on individual rater scores. For formal quality the grades based on group mean scores showed only slight agreement between two time points and there was also poor agreement between time points for the individual grades. The inter-rater agreement for content quality was fair (mean kappa value 0.232 ± 0.036, p Conclusions The quality assessment tool described in this study was feasible and reliable when content quality was assessed by a group of raters. Within ECORN-CF, the tool will help ensure that CF patients all over Europe have equal possibility of access to high quality expert advice on their illness.

  3. 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.

  4. Cystic Fibrosis Foundation Pulmonary Guidelines. Use of Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapy in Patients with Cystic Fibrosis.

    Science.gov (United States)

    Ren, Clement L; Morgan, Rebecca L; Oermann, Christopher; Resnick, Helaine E; Brady, Cynthia; Campbell, Annette; DeNagel, Richard; Guill, Margaret; Hoag, Jeffrey; Lipton, Andrew; Newton, Thomas; Peters, Stacy; Willey-Courand, Donna Beth; Naureckas, Edward T

    2018-03-01

    Cystic fibrosis (CF) transmembrane conductance regulator (CFTR) modulators are a new class of medications targeting the underlying defect in CF. Ivacaftor (IVA) and IVA combined with lumacaftor (LUM; IVA/LUM) have been approved by the U.S. Food and Drug Administration (FDA) for use in patients with CF. However, the FDA label for these medications encompasses patient groups that were not studied as part of the drug approval process. CF clinicians, patients, and their families have recognized a need for recommendations to guide the use of these medications. Develop evidence-based guidelines for CFTR modulator therapy in patients with CF. A multidisciplinary committee of CF caregivers and patient representatives was assembled. A methodologist, an epidemiologist, a medical librarian, and a biostatistician were recruited to assist with the literature search, evidence grading, and generation of recommendations. The committee developed clinical questions using the Patient-Intervention-Comparison-Outcome format. A systematic review was conducted to find relevant publications. The evidence was then evaluated using the GRADE (Grading of Recommendations, Assessment, Development, and Evaluation) approach, and recommendations were made based on this analysis. For adults and children aged 6 years and older with CF due to gating mutations other than G551D or R117H, the guideline panel made a conditional recommendation for treatment with IVA. For those with the R117H mutation, the guideline panel made a conditional recommendation for treatment with IVA for 1) adults aged 18 years or older, and 2) children aged 6-17 years with a forced expiratory volume in 1 second (FEV 1 ) less than 90% predicted. For those with the R117H mutation, the guideline panel made a conditional recommendation against treatment with IVA for 1) children aged 12-17 years with an FEV 1 greater than 90% predicted, and 2) children less than 6 years of age. Among those with two copies of F508del, the guideline

  5. Infertility and abnormal cervical mucus in two sisters who are compound heterozygotes for the cystic fibrosis (CF) DeltaF508 and R117H/7T mutations.

    Science.gov (United States)

    Schoyer, Katherine D; Gilbert, Fred; Rosenwaks, Zev

    2008-10-01

    To describe two cases of infertile sisters who are compound heterozygote carriers of the cystic fibrosis (CF) DeltaF508 and R117H/7T mutations and who were found to have significantly abnormal cervical mucus. Case reports and review of literature. Infertility practice based in an academic medical center. Two sisters (ages 34 and 42), compound heterozygote carriers of CF mutations, who presented with involuntary infertility. The partners of both patients tested negative for CF. The evaluation of both sisters did not indicate other causes of infertility aside from advanced maternal age in the 42-year-old patient. Both sisters underwent natural-cycle intrauterine insemination. Pregnancy conception. The 34-year-old patient has subsequently conceived twice through natural-cycle inseminations. This is the first reported case of infertility due to a cervical mucus factor in a patient who is a compound heterozygote of the DeltaF508 and R117H/7T mutations. This case is important not only because of the distinct phenotypic abnormality seen with specific CF mutations but also because of the associated genotype.

  6. Four case reports of Chinese cystic fibrosis patients and literature review.

    Science.gov (United States)

    Xu, Juan; Yin, Yong; Zhang, Lei; Zhang, Jing; Yuan, Shuhua; Zhang, Hao

    2017-08-01

    Cystic fibrosis (CF) is an extremely rare disease in Asians. Here, we report four Chinese children with CF and review the literature about Chinese CF patients. The cystic fibrosis transmembrane conductance regulator (CFTR) gene testing was performed on four suspected patients for CF screening. We also reviewed the literature about Chinese CF patients from 1970s. The clinical data of all these CF patients were summarized. We diagnosed four CF patients who had mutations in the CFTR gene. We identified six different mutations in the four patients. The c.1766+5G>T, c.595C>T, c.2909G>A, and c.4056G>C had been reported already. The two splicing mutations of c.579+1_579+2insACAT and c.1117-1G>C were novel mutations. There have been 46 Chinese CF patients reported in literature from 1974 up to present (2016.12). The clinical manifestations of CF involved several systems. The most common symptom was recurrent pulmonary infections. Thirty-three different mutations were identified; c.1766 + 5G>T was the most common mutation among Chinese CF patients. Only one of these mutations (R553X) was in the Caucasian CF screening panel. The spectrum of CFTR mutations in Chinese was highly different from that of Caucasian. There was a high risk of misdiagnosis or delayed diagnosis of CF even in suspected cases in China. It is necessary to educate Chinese clinicians about the signs, symptoms, and diagnosis of cystic fibrosis and promote the implementation of the sweat chloride test. © 2017 Wiley Periodicals, Inc.

  7. Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis.

    Science.gov (United States)

    Furgeri, Daniela Tenório; Marson, Fernando Augusto Lima; Correia, Cyntia Arivabeni Araújo; Ribeiro, José Dirceu; Bertuzzo, Carmen Sílvia

    2018-01-30

    Nearly 2000 mutations in the cystic fibrosis transmembrane regulator (CFTR) gene have been reported. The F508del mutation occurs in approximately 50-65% of patients with cystic fibrosis (CF). However, molecular diagnosis is not always possible. Therefore, silent polymorphisms can be used to label the mutant allele in households of patients with CF. To verify the haplotypes of four polymorphisms at the CFTR locus in households of patients with CF for pre-fertilization, pre-implantation, and prenatal indirect mutation diagnosis to provide better genetic counseling for families and patients with CF and to associate the genotypes/haplotypes with the F508del mutation screening. GATT polymorphism analysis was performed using direct polymerase chain reaction amplification, and the MP6-D9, TUB09 and TUB18 polymorphism analyses were performed using restriction fragment length polymorphism. Nine haplotypes were found in 37 CFTR alleles, and of those, 24 were linked with the F508del mutation and 13 with other CFTR mutations. The 6 (GATT), C (MP6-D9), G (TUB09), and C (TUB18) haplotypes showed the highest prevalence (48%) of the mutant CFTR allele and were linked to the F508del mutation (64%). In 43% of households analyzed, at least one informative polymorphism can be used for the indirect diagnostic test. CFTR polymorphisms are genetic markers that are useful for identifying the mutant CFTR alleles in households of patients with CF when it is not possible to establish the complete CFTR genotype. Moreover, the polymorphisms can be used for indirect CFTR mutation identification in cases of pre-fertilization, pre-implantation and prenatal analysis. Copyright © 2017 Elsevier B.V. All rights reserved.

  8. Emphysema Is Common in Lungs of Cystic Fibrosis Lung Transplantation Patients: A Histopathological and Computed Tomography Study

    OpenAIRE

    Mets, Onno M.; Roothaan, Suzan M.; Bronsveld, Inez; Luijk, Bart; van de Graaf, Ed A.; Vink, Aryan; de Jong, Pim A.

    2015-01-01

    Background Lung disease in cystic fibrosis (CF) involves excessive inflammation, repetitive infections and development of bronchiectasis. Recently, literature on emphysema in CF has emerged, which might become an increasingly important disease component due to the increased life expectancy. The purpose of this study was to assess the presence and extent of emphysema in endstage CF lungs. Methods In explanted lungs of 20 CF patients emphysema was semi-quantitatively assessed on histology speci...

  9. Nutritional Assesment in Cystic Fibrosis Patients( Iran and Newzeland

    Directory of Open Access Journals (Sweden)

    V Moeeni

    2014-04-01

    Full Text Available Introduction: Patients with Cystic Fibrosis have increased risk of malnutrition. Early detection of nutritional deterioration enables prompt intervention and correction. The aims of this project were to: - Define the nutritional status of CF patients in Iran and New Zealand -    Compare and contrast the MacDonald Nutritional Screening tool  with the Australasian guidelines for Nutrition in Cystic Fibrosis -    Validate these results in comparison with patient’s evaluation by their CF clinical team.   Materials and Methods: 69 CF patients (2-18 years were assessed during routine outpatient visits over one year. Anthropometric measurements were obtained. Both tools were applied for each patient and the results compared to their clinical evaluation (as gold standard with calculation of specificity and sensitivity. Results: Under-nutrition was more frequent in Iranian than NZ patients (39% versus 0%, p=0.0001, whereas over-nutrition was more prevalent in NZ children (9% versus 17%, p=0.05. At the first visit, MacDonald and Australasian guidelines were able to recognize 77% and 61% of under-nourished Iranian patients, respectively. The mean sensitivity and specificity for all visits for the MacDonald tool were 83% & 73% (Iran and 65% & 86% (NZ. Sensitivity and specificity for the Australasian guidelines were 79% & 79% (Iran and 70% & 90% (NZ. Conclusions: Both tools successfully recognised patients at risk of malnutrition. The MacDonald tool had comparable sensitivity and specificity to that described previously, especially in Iranian patients. This tool may be helpful in recognizing at risk CF patients, particularly in developing countries with fewer resources. Key words: Iran, Cystic Fibrosis Patient, Newzeland, Nutritional Assesment.

  10. Pandoraea pnomenusa Isolated from an Australian Patient with Cystic Fibrosis.

    Science.gov (United States)

    Ambrose, Mark; Malley, Roslyn C; Warren, Sanchia J C; Beggs, Sean A; Swallow, Oliver F E; McEwan, Belinda; Stock, David; Roddam, Louise F

    2016-01-01

    Pandoraea species are considered as emerging pathogens in people with cystic fibrosis (CF). The contribution of these organisms to disease progression in CF patients is not fully understood owing in large measure to the scant reports in clinical and research literature describing their colonization of CF patients and their associated virulence determinants. In an effort to increase awareness and evidence for Pandoraea spp. infection in people with CF, and to stimulate research aimed at unraveling the pathogenic properties of Pandoraea, we report a case of a 26-year-old Australian (Tasmanian) man with CF who was chronically infected with Pandoraea pnomenusa for at least one year prior to his death from respiratory failure. In addition, we describe for the first time evidence suggesting that this bacterium is a facultative anaerobe and report on the availability of a whole genome sequence for this organism. To the best of our knowledge, this report represents only the second clinical case study of P. pnomenusa infection in the world, and the first in an Australian CF patient.

  11. 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.

    Science.gov (United States)

    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 training and activity behaviour changes and summarizes the existing evidence for these rehabilitation strategies in patients with bronchiectasis, both CF and non-CF bronchiectasis. Furthermore, practical considerations and safety aspects are discussed.

  12. Development of low-dose protocols for thin-section CT assessment of cystic fibrosis in pediatric patients.

    LENUS (Irish Health Repository)

    O'Connor, Owen J

    2010-12-01

    To develop low-dose thin-section computed tomographic (CT) protocols for assessment of cystic fibrosis (CF) in pediatric patients and determine the clinical usefulness thereof compared with chest radiography.

  13. Effects of High Frequency Chest Compression on Respiratory System Mechanics in Normal Subjects and Cystic Fibrosis Patients

    Directory of Open Access Journals (Sweden)

    Richard L Jones

    1995-01-01

    Full Text Available OBJECTIVE: To investigate the short term effects of high frequency chest compression (HFCC on several indices of respiratory system mechanics in normal subjects and patients with cystic fibrosis (CF.

  14. 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...

  15. Validation of a Nutrition Screening Tool for Pediatric Patients with Cystic Fibrosis.

    Science.gov (United States)

    Souza Dos Santos Simon, Miriam Isabel; Forte, Gabriele Carra; da Silva Pereira, Juliane; da Fonseca Andrade Procianoy, Elenara; Drehmer, Michele

    2016-05-01

    In cystic fibrosis (CF), nutrition diagnosis is of critical relevance because the early identification of nutrition-related compromise enables early, adequate intervention and, consequently, influences patient prognosis. Up to now, there has not been a validated nutrition screening tool that takes into consideration clinical variables. To validate a specific nutritional risk screening tool for patients with CF based on clinical variables, anthropometric parameters, and dietary intake. Cross-sectional study. The nutrition screening tool was compared with a risk screening tool proposed by McDonald and the Cystic Fibrosis Foundation criteria. Patients aged 6 to 18 years, with a diagnosis of CF confirmed by two determinations of elevated chloride level in sweat (sweat test) and/or by identification of two CF-associated genetic mutations who were receiving follow-up care through the outpatient clinic of a Cystic Fibrosis Treatment Center. Earlier identification of nutritional risk in CF patients aged 6 to 18 years when a new screening tool was applied. Agreement among the tested methods was assessed by means of the kappa coefficient for categorical variables. Sensitivity, specificity, and accuracy values were calculated. The significance level was set at 5% (PCystic Fibrosis Foundation criteria was lower (κ=0.418; P<0.001), and the sensitivity and specificity were both 72%. The proposed screening tool with defined clinical variables promotes earlier identification of nutritional risk in pediatric patients with CF. Copyright © 2016 Academy of Nutrition and Dietetics. Published by Elsevier Inc. All rights reserved.

  16. High-resolution CT of nontuberculous mycobacterium infection in adult CF patients: diagnostic accuracy

    Energy Technology Data Exchange (ETDEWEB)

    McEvoy, Sinead; Lavelle, Lisa; Kilcoyne, Aoife; McCarthy, Colin; Dodd, Jonathan D. [St. Vincent' s University Hospital, Department of Radiology, Dublin (Ireland); DeJong, Pim A. [University Medical Center Utrecht, Department of Radiology, Utrecht (Netherlands); Loeve, Martine; Tiddens, Harm A.W.M. [Erasmus MC-Sophia Children' s Hospital, Department of Radiology, Department of Pediatric Pulmonology and Allergology, Rotterdam (Netherlands); McKone, Edward; Gallagher, Charles G. [St. Vincent' s University Hospital, Department of Respiratory Medicine and National Referral Centre for Adult Cystic Fibrosis, Dublin (Ireland)

    2012-12-15

    To determine the diagnostic accuracy of high-resolution computed tomography (HRCT) for the detection of nontuberculous mycobacterium infection (NTM) in adult cystic fibrosis (CF) patients. Twenty-seven CF patients with sputum-culture-proven NTM (NTM+) underwent HRCT. An age, gender and spirometrically matched group of 27 CF patients without NTM (NTM-) was included as controls. Images were randomly and blindly analysed by two readers in consensus and scored using a modified Bhalla scoring system. Significant differences were seen between NTM (+) and NTM (-) patients in the severity of the bronchiectasis subscore [45 % (1.8/4) vs. 35 % (1.4/4), P = 0.029], collapse/consolidation subscore [33 % (1.3/3) vs. 15 % (0.6/3)], tree-in-bud/centrilobular nodules subscore [43 % (1.7/3) vs. 25 % (1.0/3), P = 0.002] and the total CT score [56 % (18.4/33) vs. 46 % (15.2/33), P = 0.002]. Binary logistic regression revealed BMI, peribronchial thickening, collapse/consolidation and tree-in-bud/centrilobular nodules to be predictors of NTM status (R{sup 2} = 0.43). Receiver-operator curve analysis of the regression model showed an area under the curve of 0.89, P < 0.0001. In adults with CF, seven or more bronchopulmonary segments showing tree-in-bud/centrilobular nodules on HRCT is highly suggestive of NTM colonisation. (orig.)

  17. Assessment of the Microbial Constituents of the Home Environment of Individuals with Cystic Fibrosis (CF and Their Association with Lower Airways Infections.

    Directory of Open Access Journals (Sweden)

    Alya Heirali

    Full Text Available Cystic fibrosis (CF airways are colonized by a polymicrobial community of organisms, termed the CF microbiota. We sought to define the microbial constituents of the home environment of individuals with CF and determine if it may serve as a latent reservoir for infection.Six patients with newly identified CF pathogens were included. An investigator collected repeat sputum and multiple environmental samples from their homes. Bacteria were cultured under both aerobic and anaerobic conditions. Morphologically distinct colonies were selected, purified and identified to the genus and species level through 16S rRNA gene sequencing. When concordant organisms were identified in sputum and environment, pulsed-field gel electrophoresis (PFGE was performed to determine relatedness. Culture-independent bacterial profiling of each sample was carried out by Illumina sequencing of the V3 region of the 16s RNA gene.New respiratory pathogens prompting investigation included: Mycobacterium abscessus(2, Stenotrophomonas maltophilia(3, Pseudomonas aeruginosa(3, Pseudomonas fluorescens(1, Nocardia spp.(1, and Achromobacter xylosoxidans(1. A median 25 organisms/patient were cultured from sputum. A median 125 organisms/home were cultured from environmental sites. Several organisms commonly found in the CF lung microbiome were identified within the home environments of these patients. Concordant species included members of the following genera: Brevibacterium(1, Microbacterium(1, Staphylococcus(3, Stenotrophomonas(2, Streptococcus(2, Sphingomonas(1, and Pseudomonas(4. PFGE confirmed related strains (one episode each of Sphinogomonas and P. aeruginosa from the environment and airways were identified in two patients. Culture-independent assessment confirmed that many organisms were not identified using culture-dependent techniques.Members of the CF microbiota can be found as constituents of the home environment in individuals with CF. While the majority of isolates from

  18. Rationale and prospects of targeting bacterial two-component systems for antibacterial treatment of cystic fibrosis patients

    NARCIS (Netherlands)

    Velikova, Nadya; Wells, Jerry M.

    2016-01-01

    Bacterial respiratory infections are the main reason of morbidity and mortality among cystic fibrosis (CF) patients. In early childhood, the respiratory infections are due to Staphylococcus aureus and Haemophilus influenzae. In older CF patients, pathogenic Gram-negative bacteria like Achromobacter

  19. Assessment of microbiological diagnostic procedures for respiratory specimens from cystic fibrosis patients in German laboratories by use of a questionnaire.

    Science.gov (United States)

    Häfner, Laura; Peters, Georg; Kahl, Barbara C

    2014-03-01

    Respiratory specimens from cystic fibrosis (CF) patients challenge microbiological laboratories with their complexity of pathogens and atypical variants. We evaluated the diagnostic procedures in German laboratories by use of a questionnaire. Although most laboratories followed guidelines, some of them served only a small number of patients, while others did not use the recommended selective agars to culture the particular CF-relevant species.

  20. CT of the paranasal sinuses is not a valid indicator for sinus surgery in CF patients

    DEFF Research Database (Denmark)

    Rasmussen, Jacob; Aanæs, Kasper; Norling, Rikke

    2012-01-01

    BACKGROUND: No guidelines comprise when or to what extent sinus surgery should be done in patients with cystic fibrosis (CF) or how a CT scan of the paranasal sinuses should influence the decision. Symptoms of rhinosinusitis and/or eradication of pathogenic bacteria from the sinuses are reasons......: There was no significant correlation between the CT score and detection of pus, pathogenic bacteria or symptoms. Pus and pathogenic bacteria were found in several cases without sinus opacification on the CT scan. Non pathogenic and sterile cultures were also found in sinuses with opacification. CONCLUSIONS: A CT scan...

  1. Cystic fibrosis patients and families support cross-infection measures.

    Science.gov (United States)

    Griffiths, A L; Armstrong, D; Carzino, R; Robinson, P

    2004-09-01

    A clonal strain of Pseudomonas aeruginosa (PA) was isolated in 1999 at the Royal Children's Hospital, Melbourne, Australia, after five unrelated children with cystic fibrosis (CF) died from severe lung disease aged parent and patient responses to the segregation measures to determine overall support. A questionnaire was sent out to the families of 291 CF children treated at the centre. A 65% response rate was obtained. The majority of parents (85%) and patients > or=12 yrs old (63%) were positive about the segregation measures instituted. A total of 11% of parents and 25% of patients were unsure, and 4% of parents and 12% of children gave negative responses. Those who were not happy listed reasons such as concerns about the emotional impact of not socialising with other CF children, inconclusive evidence about person-person spread of infection and feelings of alienation created in the clinic by the separation. In conclusion, the majority of responding cystic fibrosis patients and their families understand and are supportive of infection control measures instituted at the Royal Children's Hospital, Melbourne, Australia.

  2. 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.

  3. Isolation of Pseudomonas cepacia in cystic fibrosis patient

    Directory of Open Access Journals (Sweden)

    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.

  4. Pulmonary exacerbation due to colistin-resistant Stenotrophomonas maltophilia in a Bulgarian cystic fibrosis patient

    Directory of Open Access Journals (Sweden)

    Stoyanova Gergana P.

    2016-06-01

    Full Text Available 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. As Pseudomonas aeruginosa is the dominant pathogen in CF patients it has been the major target of all treatment strategies, possible antibiotic regimens and recommendations for years. More sophisticated antibiotic therapies introduced over the last decades have helped to improve the prognosis in cystic fibrosis, but then new multidrug-resistant pathogens emerged.

  5. 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...

  6. The effect of sinus surgery with intensive follow-up on pathogenic sinus bacteria in patients with cystic fibrosis

    DEFF Research Database (Denmark)

    Aanaes, Kasper; von Buchwald, Christian; Hjuler, Thomas

    2013-01-01

    Most patients with cystic fibrosis (CF) have chronic rhinosinusitis; their sinuses are often colonized with bacteria that can initiate and maintain deleterious pulmonary infections. Theoretically, eradication of the sinus bacteria should reduce the frequency of lung infections and thereby reduce...... pulmonary morbidity. This article addressed whether bacteria in CF sinuses are eligible for eradication by sinus surgery and postoperative treatment....

  7. Quality assessment of expert answers to lay questions about cystic fibrosis from various language zones in Europe: the ECORN-CF project.

    Science.gov (United States)

    d'Alquen, Daniela; De Boeck, Kris; Bradley, Judy; Vávrová, Věra; Dembski, Birgit; Wagner, Thomas O F; Pfalz, Annette; Hebestreit, Helge

    2012-02-06

    The European Centres of Reference Network for Cystic Fibrosis (ECORN-CF) established an Internet forum which provides the opportunity for CF patients and other interested people to ask experts questions about CF in their mother language. The objectives of this study were to: 1) develop a detailed quality assessment tool to analyze quality of expert answers, 2) evaluate the intra- and inter-rater agreement of this tool, and 3) explore changes in the quality of expert answers over the time frame of the project. The quality assessment tool was developed by an expert panel. Five experts within the ECORN-CF project used the quality assessment tool to analyze the quality of 108 expert answers published on ECORN-CF from six language zones. 25 expert answers were scored at two time points, one year apart. Quality of answers was also assessed at an early and later period of the project. Individual rater scores and group mean scores were analyzed for each expert answer. A scoring system and training manual were developed analyzing two quality categories of answers: content and formal quality. For content quality, the grades based on group mean scores for all raters showed substantial agreement between two time points, however this was not the case for the grades based on individual rater scores. For formal quality the grades based on group mean scores showed only slight agreement between two time points and there was also poor agreement between time points for the individual grades. The inter-rater agreement for content quality was fair (mean kappa value 0.232 ± 0.036, p value 0.105 ± 0.024, p change over time. The quality assessment tool described in this study was feasible and reliable when content quality was assessed by a group of raters. Within ECORN-CF, the tool will help ensure that CF patients all over Europe have equal possibility of access to high quality expert advice on their illness. © 2012 d’Alquen et al; licensee BioMed Central Ltd.

  8. Clostridium difficile Infection and Proton Pump Inhibitor Use in Hospitalized Pediatric Cystic Fibrosis Patients

    Directory of Open Access Journals (Sweden)

    John F. Pohl

    2011-01-01

    Full Text Available Children with cystic fibrosis (CF often take proton pump inhibitors (PPIs, which helps improve efficacy of fat absorption with pancreatic enzyme replacement therapy. However, PPI use is known to be associated with Clostridium difficile-(C. diff- associated diarrhea (CDAD. We retrospectively evaluated the incidence of C. diff infection from all pediatric hospital admissions over a 5-year period at a single tertiary children's hospital. We found significantly more C. diff-positive stool tests in hospitalized patients with CF compared to patients with no diagnosis of CF. However, use of a PPI was not associated with an increased risk of CDAD in hospitalized CF patients. In summary, C. diff infection is more common in hospitalized pediatric CF patients although PPI use may not be a risk factor for CDAD development in this patient population.

  9. Increased serum concentration of G-CSF in cystic fibrosis patients with chronic Pseudomonas aeruginosa pneumonia

    DEFF Research Database (Denmark)

    Jensen, Peter Østrup; Moser, C; Kharazmi, A

    2006-01-01

    BACKGROUND: Chronic Pseudomonas aeruginosa lung infection is the major reason for premature death in patients with cystic fibrosis (CF). Infected patients experience a progressive deterioration of the lung tissue caused by a persistent accumulation of PMNs. We investigated if the pulmonary accumu...

  10. [Relation between gene mutations and pancreatic exocrine function in patients with cystic fibrosis].

    Science.gov (United States)

    Radivojević, D; Guć-Sćekić, M; Djurisić, M; Lalić, T; Minić, P; Kanavakis, E

    2001-01-01

    Cystic fibrosis (CF), is the most common autosomal-recessive disease in Caucasians, with an incidence of approximately 1:2500 live births and a carrier frequency of approximately 4-5%. Causes of the disease are mutations in the CF gene which is located on chromosome 7 (region 7q31). Although a single mutation, a deletion of phenylalanine at position 508 (DF508) in exon 10, accounts for almost 70% of all CF chromosomes, over 900 other mutations have been identified in this large gene. CF gene encodes a membrane protein, which functions as aion channel- CFTR (cystic fibrosis transmembrane regulator protein). The exocrine pancreas is a gland that secretes water, enzymes and electrolytes into the intestinal lumen. These enzymes are needed for the normal digestion of food, and their reduced secretion in cystic fibrosis will cause malabsortion and malnutrition in CF patients. Pancreatic dysfunction in CF begins in uteri. Most patients with CF typically present insufficient pancreatic exocrine function (PI phenotype) and 10-15% of CF patients are pancreatic sufficient (PS phenotype). It has been shown elsewhere that the pancreatic function status in CF could be correlated to mutations in the CFTR gene. To determine the relation between genotype and pancreatic status, we analyzed 32 CF patients in whom both CF gene mutant alleles were identified (Table 1). Patients included in this study attended the Paediatric Department of Mother and Child Health Institute in Belgrade. The diagnosis was based on typical clinical manifestations and high levels of sweat chloride concentration (higher than 60 mmol/L). Of the 32 patients studied, only one (3.12%) was PS and the rest (96.88%) had PI phenotype. For each CF genotype the number of patients who were PI or PS is given in Table 1. The most striking observation was that all given genotypes correlated with either PI or PS, but not with both. On the basis of both preceding hypotheses and our present data (Table 2 and Table 3), it was

  11. Longevity of Patients With Cystic Fibrosis in 2000 to 2010 and Beyond: Survival Analysis of the Cystic Fibrosis Foundation Patient Registry

    Science.gov (United States)

    MacKenzie, Todd; Gifford, Alex H.; Sabadosa, Kathryn A.; Quinton, Hebe B.; Knapp, Emily A.; Goss, Christopher H.; Marshall, Bruce C.

    2015-01-01

    Background Advances in treatments for cystic fibrosis (CF) continue to extend survival. An updated estimate of survival is needed for better prognostication and to anticipate evolving adult care needs. Objective To characterize trends in CF survival between 2000 and 2010 and to project survival for children born and diagnosed with the disease in 2010. Design Registry-based study. Setting 110 Cystic Fibrosis Foundation–accredited care centers in the United States. Patients All patients represented in the Cystic Fibrosis Foundation Patient Registry (CFFPR) between 2000 and 2010. Measurements Survival was modeled with respect to age, age at diagnosis, gender, race or ethnicity, F508del mutation status, and symptoms at diagnosis. Results Between 2000 and 2010, the number of patients in the CFFPR increased from 21 000 to 26 000, median age increased from 14.3 to 16.7 years, and adjusted mortality decreased by 1.8% per year (95% CI, 0.5% to 2.7%). Males had a 19% (CI, 13% to 24%) lower adjusted risk for death than females. Median survival of children born and diagnosed with CF in 2010 is projected to be 37 years (CI, 35 to 39 years) for females and 40 years (CI, 39 to 42 years) for males if mortality remains at 2010 levels and more than 50 years if mortality continues to decrease at the rate observed between 2000 and 2010. Limitations The CFFPR does not include all patients with CF in the United States, and loss to follow-up and missing data were observed. Additional analyses to address these limitations suggest that the survival projections are conservative. Conclusion Children born and diagnosed with CF in the United States in 2010 are expected to live longer than those born earlier. This has important implications for prognostic discussions and suggests that the health care system should anticipate greater numbers of adults with CF. Primary Funding Source Cystic Fibrosis Foundation. PMID:25133359

  12. Rectal prolapse and cystic fibrosis.

    Science.gov (United States)

    El-Chammas, Khalil I; Rumman, Nisreen; Goh, Vi Lier; Quintero, Diana; Goday, Praveen S

    2015-01-01

    Screening for cystic fibrosis (CF) is suggested in patients with rectal prolapse (RP). Little is known about the association between CF and RP in the era of newborn screening for CF. Our retrospective review showed that 3.6% of patients with RP had CF, and 3.5% of patients with CF had RP. No demographic or clinical factors appear to predict the likelihood of RP in patients with CF. Sweat chloride testing for patients with RP has a low yield in the era of newborn screening but may still need to be considered in children with RP to avoid missing the rare child with CF.

  13. Spread of colistin resistant non-mucoid Pseudomonas aeruginosa among chronically infected Danish cystic fibrosis patients

    DEFF Research Database (Denmark)

    Johansen, Helle Krogh; Moskowitz, Samuel M; Ciofu, Oana

    2008-01-01

    BACKGROUND: Colistin resistant Pseudomonas aeruginosa have rarely been reported in cystic fibrosis (CF) patients. METHODS: We performed a 17-year prospective study on colistin susceptibility and compared our findings with clinical variables. RESULTS: The first outbreak started in 1995 and lasted ...... that the colistin resistant clones do not spread to non-infected patients since colistin is an important antibiotic for eradication of initial and intermittent P. aeruginosa colonisation.......BACKGROUND: Colistin resistant Pseudomonas aeruginosa have rarely been reported in cystic fibrosis (CF) patients. METHODS: We performed a 17-year prospective study on colistin susceptibility and compared our findings with clinical variables. RESULTS: The first outbreak started in 1995 and lasted 5...... years. It involved 27 CF patients who had inhaled colistin twice daily for a median of 10 years. Colistin resistant isolates persisted in individual patients for a median of 75 days after colistin was withdrawn. A second outbreak started in 2004. It involved 40 patients, 17 of whom were the same...

  14. Congenital bilateral absence of the vas deferens (CBAVD): Possible correlation between cystic fibrosis (CF) genotype and antisperm antibodies (ASA) phenotype

    Energy Technology Data Exchange (ETDEWEB)

    Kupchick, G.S. [Maimonides Medical Center, Brooklyn, NY (United States)]|[UniGen, Buenos Aires (Argentina); Vazquez-Levin, M.H. [UniGen, Buenos Aires (Argentina); Nagler, H.M. [Beth Israel Medical Center, New York, NY (United States)

    1994-09-01

    A large number of CBAVD patients have been found to carry at least one known CF mutation. Several of these individuals have been shown to be compound heterozygotes. It is likely that most CBAVD cases represent the milder end of the CF spectrum. However, in a given CBAVD patient with no known mutations found (within current screening capabilities), it is not possible to conclude a CF relationship. Since CBAVD patients have been successfully treated for infertility with epididymal aspiration techniques, there are reproductive and clinical implications regarding CF. We have studied seven CBAVD patients (P{sub 1}-P{sub 7}) with regards to presence and levels of ASA and their CF genotypes. An indirect immunobead binding test was used to measure ASA. ASA were found in 5/7 (71%) patients studied. High levels of IgG binding to sperm tail-tip were found in two cases (P{sub 2}, P{sub 4}); IgG binding to all sperm regions and IgA binding to sperm head were found in one case (P{sub 5}); IgM binding to tail-tip was found in two cases (P{sub 1}, P{sub 3}). Three patients (P{sub 1}, P{sub 3}, P{sub 4}) had a {triangle}F308 / ? and two (P{sub 2}, P{sub 5}) a W1282X / ? genotype. Interestingly, the two patients with no known mutation found (P{sub 6}, P{sub 7}) had negative ASA. The study of more patients could yield ASA as a potential indirect marker for relatedness of CBAVD to CF gene mutations.

  15. Modeling cystic fibrosis disease progression in patients with the rare CFTR mutation P67L.

    Science.gov (United States)

    MacKenzie, Isobel E R; Paquette, Valerie; Gosse, Frances; George, Sheenagh; Chappe, Frederic; Chappe, Valerie

    2017-05-01

    The progression of cystic fibrosis (CF) in patients with the rare mutation P67L was examined to determine if it induced a milder form of CF compared to the common severe ΔF508 mutation. Parameters of lung function, level of bacterial infection, nutritional status and hospitalization were used to represent CF progression. Age at diagnosis and pancreatic status were used to assess CF presentation. Analysis of data from the CF Canada Registry collected over a 15-year period included 266 ΔF508/ΔF508 homozygote patients from CF clinics in Atlantic Canada and 26 compound heterozygote patients with the rare P67L mutation from clinics across Canada. Late age at diagnosis, high incidence of pancreatic sufficiency, maintained Body Mass Index (BMI) with age, delayed life-threatening bacterial infection, and fewer days in hospital were observed for P67L heterozygote patients included in this study. Although the decline of lung function did not differ from ΔF508 homozygotes, the fact that a greater proportion of P67L heterozygotes live to an older age suggests that lung function is not the primary factor determining CF progression for P67L heterozygote patients. The P67L mutation is associated with a mild disease, even when combined with the severe ΔF508 mutation. Copyright © 2017 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  16. Evaluation of Teriparatide for Treatment of Osteoporosis in Four Patients with Cystic Fibrosis: A Case Series

    Directory of Open Access Journals (Sweden)

    Oranan Siwamogsatham

    2014-01-01

    Full Text Available Introduction. Bone disease is a common complication of cystic fibrosis (CF. To date, there have been no reports on the effectiveness of teriparatide, recombinant human parathyroid hormone, to treat CF-related bone disease. Case Presentation. We report on four patients with CF-related bone disease who were treated with teriparatide. Three patients completed two years of therapy with teriparatide, and all had significant improvements in their bone mineral density (BMD. One patient was unable to tolerate teriparatide and discontinued treatment 1 week into therapy. Conclusion. Teriparatide may be a potential treatment option for CF-related bone disease. This report highlights the need for further investigation into the use of teripartide in the CF population.

  17. Chromosomal mechanisms of aminoglycoside resistance in Pseudomonas aeruginosa isolates from cystic fibrosis patients

    DEFF Research Database (Denmark)

    Islam, S; Oh, H; Jalal, S

    2009-01-01

    In total, 40 Pseudomonas aeruginosa isolates from cystic fibrosis (CF) patients were included in this study. Twenty of these were collected in 1994 and 1997, from six CF patients, and the rest were collected from different CF patients in 2000 and 2001. The relative expression of mRNA for the efflux....... aeruginosa, were analysed. MexY mRNA overproduction was found in 17/20 isolates collected in 1994 and 1997, and was correlated with decreased susceptibility to aminoglycosides. Alteration of the MexXY-OprM efflux system has been the main mechanism of resistance to aminoglycoside antibiotics in CF P...... not in the CF environment, as rplY and galU were unaltered in all isolates, and nuoG was not expressed in only one isolate. No 16S rRNA A-site mutations were found in any of the four copies of the gene in 13 investigated isolates....

  18. 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

  19. Cystic fibrosis : a hereditary inflammatory process

    NARCIS (Netherlands)

    Terheggen-Lagro, S.W.J.

    2006-01-01

    Cystic fibrosis (CF) lung disease is characterized by an exaggerated, and extended inflammation, with a massive influx of neutrophils and high concentrations of interleukin (IL)-8 in bronchoalveolar lavage fluid (BALF). Furthermore, patients with CF have chronic bacterial airway infection,

  20. Estimating body composition from skinfold thicknesses and bioelectrical impedance analysis in cystic fibrosis patients.

    Science.gov (United States)

    Alicandro, Gianfranco; Battezzati, Alberto; Bianchi, Maria Luisa; Loi, Silvana; Speziali, Chiara; Bisogno, Arianna; Colombo, Carla

    2015-11-01

    The accuracy of body composition estimates based on skinfold thickness measurements and bioelectrical impedance analysis (BIA) is not yet adequately explored in cystic fibrosis (CF). Using DXA as reference method we verified the accuracy of these techniques and identified predictors of body composition specific for CF. One hundred forty-two CF patients (age range: 8-31 years) underwent a DXA scan. Body fat percentage (BF%) was estimated from skinfolds, while fat free mass (FFM) from single-frequency 50 kHz BIA. Bland-Altman analysis showed poor intra-individual agreement between body composition data provided by DXA and BF% estimated from skinfolds or FFM estimated from BIA. The skinfolds of the upper arm were better predictors of BF% than BMI, while compared to other BIA measurements the best predictor of FFM was the R-index (Height(2)/Resistance). Due to poor accuracy at individual level, the estimates of body composition obtained from these techniques cannot be part of the standard nutritional assessment of CF patients until reliable CF-specific equations will become available. BMI has limited value in predicting body fatness in CF patients and should be used in combination with other predictors. Skinfolds of the upper arm and R-index are strongly related to BF% and FFM and should be tested in a large CF population to develop specific predictive equations. Copyright © 2015 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  1. Cedecea davisae’s Role in a Polymicrobial Lung Infection in a Cystic Fibrosis Patient

    Directory of Open Access Journals (Sweden)

    Thayer G. Ismaael

    2012-01-01

    Full Text Available Chronic airway colonization and infection are the hallmark of cystic fibrosis (CF. Staphylococcus aureus, Pseudomonas aeruginosa, and Burkholderia cepacia are well-documented bacterial culprits in this chronic suppurative airway disease. Advanced molecular diagnostics have uncovered a possible role of a larger group of microorganisms in CF. Cedecea is a member of the family Enterobacteriaceae and is an emerging pathogen. We present a case of a polymicrobial healthcare-associated pneumonia in a CF patient caused by Cedecea davisae, among other bacteria.

  2. The genome of Burkholderia cenocepacia J2315, an epidemic pathogen of cystic fibrosis patients

    DEFF Research Database (Denmark)

    Holden, Matthew T G; Seth-Smith, Helena M B; Crossman, Lisa C

    2009-01-01

    Bacterial infections of the lungs of cystic fibrosis (CF) patients cause major complications in the treatment of this common genetic disease. Burkholderia cenocepacia infection is particularly problematic since this organism has high levels of antibiotic resistance, making it difficult to eradica...

  3. Within-host microevolution of Pseudomonas aeruginosa in Italian cystic fibrosis patients

    DEFF Research Database (Denmark)

    Marvig, Rasmus Lykke; Dolce, Daniela; Madsen Sommer, Lea Mette

    2015-01-01

    Chronic infection with Pseudomonas aeruginosa is a major cause of morbidity and mortality in cystic fibrosis (CF) patients, and a more complete understanding of P. aeruginosa within-host genomic evolution, transmission, and population genomics may provide a basis for improving intervention...

  4. Decreased mucosal oxygen tension in the maxillary sinuses in patients with cystic fibrosis

    DEFF Research Database (Denmark)

    Aanæs, Kasper; Rickelt, Lars Fledelius; Johansen, Helle Krogh

    2011-01-01

    Pseudomonas aeruginosa in the sinuses plays a role in the lungs in cystic fibrosis (CF) patients, but little is known about the sinus environment where the bacteria adapt. Anoxic areas are found in the lower respiratory airways but it is unknown if the same conditions exist in the sinuses....

  5. Nontuberculous Mycobacterial Disease Is Not a Contraindication to Lung Transplantation in Patients With Cystic Fibrosis

    DEFF Research Database (Denmark)

    Qvist, Tavs; Pressler, Tanja; Thomsen, V O

    2013-01-01

    Whether nontuberculous mycobacterial (NTM) disease is a contraindication to lung transplantation remains controversial. We conducted a nationwide study to evaluate the clinical importance of NTM infection among lung transplant patients with cystic fibrosis (CF) in Denmark and to determine if NTM...

  6. Aspergillus species and other molds in respiratory samples from patients with cystic fibrosis:

    DEFF Research Database (Denmark)

    Mortensen, Klaus Leth; Jensen, Rasmus Hare; Johansen, Helle Krogh

    2011-01-01

    Respiratory tract colonization by molds in patients with cystic fibrosis (CF) were analyzed, with particular focus on the frequency, genotype, and underlying mechanism of azole resistance among Aspergillus fumigatus isolates. Clinical and demographic data were also analyzed. A total of 3,336 resp...

  7. Respiratory muscle strength in stable adolescent and adult patients with cystic fibrosis

    NARCIS (Netherlands)

    Dunnink, M A; Doeleman, W R; Trappenburg, J C A; de Vries, W R

    BACKGROUND: Since available studies have provided conflicting results, this study investigated respiratory muscle function and its relationship with exercise capacity, degree of dyspnoea and leg discomfort, and quality of life in patients with Cystic Fibrosis (CF). METHODS: Using a cross-sectional

  8. Uptake of genetic counselling services by patients with cystic fibrosis ...

    African Journals Online (AJOL)

    Background: Although cystic fibrosis (CF) is a common genetic condition, genetic counselling services appear to be underutilised by affected families. The aim of this study was to determine the uptake of genetic counselling and mutation testing for CF by relatives of affected individuals, and the impact of introducing ...

  9. Azithromycin maintenance therapy in patients with cystic fibrosis : A dose advice based on a review of pharmacokinetics, efficacy, and side effects

    NARCIS (Netherlands)

    Wilms, Erik B.; Touw, Daniel J.; Heijerman, Harry G.M.; Van Der Ent, Cornelis K.

    Azithromycin maintenance therapy results in improvement of respiratory function in patients with cystic fibrosis (CF). In azithromycin maintenance therapy, several dosing schemes are applied. In this review, we combine current knowledge about azithromycin pharmacokinetics with the dosing schedules

  10. Bronchopulmonary infection-colonization patterns in Spanish cystic fibrosis patients: Results from a national multicenter study.

    Science.gov (United States)

    de Dios Caballero, Juan; Del Campo, Rosa; Royuela, Ana; Solé, Amparo; Máiz, Luis; Olveira, Casilda; Quintana-Gallego, Esther; de Gracia, Javier; Cobo, Marta; de la Pedrosa, Elia Gómez G; Oliver, Antonio; Cantón, Rafael

    2016-05-01

    Clinical and demographical knowledge on Spanish cystic fibrosis (CF) patients is incomplete as no national registry exists. CF-microbiology has not been studied at national level. The results of the first Spanish multicenter study on CF microbiology are presented. 24 CF-Units for adult (n=12) and pediatric (n=12) patients from 17 hospitals provided sputa and clinical data from 15 consecutive patients. Cultures and susceptibility testing were performed. Colonization impact on pulmonary function was assessed. 341 patients [mean (SD) age 21 (11) years, 180≥18years, mean (SD) FEV1=68 (25)%] were included. Pseudomonas aeruginosa was reported as chronic, intermittent or absent in 46%, 22% and 32% of patients, respectively. The annual prevalence was 62%. Positive P. aeruginosa and methicillin-resistant Staphylococcus aureus cultures were significantly associated with lower FEV1 (pSpanish CF-population which has been clinically, demographically and microbiologically characterized will serve as a reference for future CF studies in Spain. Copyright © 2015 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  11. PRAGMA-CF. A quantitative structural lung disease CT outcome in young children with cystic fibrosis

    DEFF Research Database (Denmark)

    Rosenow, Tim; Oudraad, Merel C.J.; Murray, Conor P.

    2015-01-01

    on ten axial slices for the presence of bronchiectasis, mucous plugging or other airway abnormalities (inspiratory scans) and trapped air (expiratory scans). The separate proportions of total disease (%Dis), bronchiectasis (%Bx) and trapped air (%TA) were determined. Thirty scans were used for observer.......85 - 0.96) and 0.96 (0.91 - 0.98), respectively. The change in %Dis (p = 0.004) and %Bx (p = 0.001) with PRAGMA-CF was related to neutrophil elastase (NE) presence at age 3, whereas only the change in bronchiectasis score was related to NE (p

  12. Molecular typing of Burkholderia cepacia complex isolated from patients attending an Italian Cystic Fibrosis Centre.

    Science.gov (United States)

    Teri, Antonio; Sottotetti, Samantha; Biffi, Arianna; Girelli, Daniela; D'Accico, Monica; Arghittu, Milena; Colombo, Carla; Corti, Fabiola; Pizzamiglio, Giovanna; Cariani, Lisa

    2018-03-02

    Bacteria from the Burkholderia cepacia complex (Bcc) are capable of causing severe infections in patients with cystic fibrosis (CF). Bcc infection is often extremely difficult to treat due to its intrinsic resistance to multiple antibiotics. In addition, it seems to speed up the decline of lung function and is considered a contraindication for lung transplantation in CF. This study investigates the species of the Bcc strains recovered from chronically infected CF subjects by means of: isolation, identification methods and complete recA nucleotide sequences of 151 samples. Molecular typing showed that B. cenocepacia III is the dominant strain found in the group of subjects being treated at the Milan CF Centre (Italy) and that the infection is chronically maintained by the same species. Defining species by means of molecular analysis yields important information for the clinician in order to establish the most appropriate therapy and implement correct measures for prevention of transmission among CF subjects.

  13. Molecular Detection of Multiple Emerging Pathogens in Sputa from Cystic Fibrosis Patients

    Science.gov (United States)

    Bittar, Fadi; Richet, Hervé; Dubus, Jean-Christophe; Reynaud-Gaubert, Martine; Stremler, Nathalie; Sarles, Jacques; Raoult, Didier; Rolain, Jean-Marc

    2008-01-01

    Background There is strong evidence that culture-based methods detect only a small proportion of bacteria present in the respiratory tracts of cystic fibrosis (CF) patients. Methodology/Principal Findings Standard microbiological culture and phenotypic identification of bacteria in sputa from CF patients have been compared to molecular methods by the use of 16S rDNA amplification, cloning and sequencing. Twenty-five sputa from CF patients were cultured that yield 33 isolates (13 species) known to be pathogens during CF. For molecular cloning, 760 clones were sequenced (7.2±3.9 species/sputum), and 53 different bacterial species were identified including 16 species of anaerobes (30%). Discrepancies between culture and molecular data were numerous and demonstrate that accurate identification remains challenging. New or emerging bacteria not or rarely reported in CF patients were detected including Dolosigranulum pigrum, Dialister pneumosintes, and Inquilinus limosus. Conclusions/Significance Our results demonstrate the complex microbial community in sputa from CF patients, especially anaerobic bacteria that are probably an underestimated cause of CF lung pathology. Metagenomic analysis is urgently needed to better understand those complex communities in CF pulmonary infections. PMID:18682840

  14. Development and validation of a cystic fibrosis patient and family member experience of care survey.

    Science.gov (United States)

    Homa, Karen; Sabadosa, Kathryn A; Nelson, Eugene C; Rogers, William H; Marshall, Bruce C

    2013-01-01

    The purpose of this study was to develop a cystic fibrosis (CF)-specific patient and family experience of care survey that CF care centers could use to inform quality improvement efforts. A literature search and query of CF care centers was conducted to identify existing surveys. Individuals with CF, their families, and health care professionals were also asked what to include. Following this process, a draft survey was developed and then reviewed by focus groups. Finally, a version was piloted at 25 CF care centers to validate and further refine the instrument. No CF-specific surveys were found in the literature. Focus group participants stated that they understood the survey questions and that they covered important aspects of care, particularly infection control. The pilot test of the instrument with 485 participants supported its validity by demonstrating significant differences across centers and that most of the 3 care dimensions had acceptable internal consistency (Cronbach α: adults, 0.71-0.85; children, 0.68-0.79). A CF-specific patient and family experience of care survey was developed with input from individuals with CF, their families, and health care professionals. The instrument was validated and has been deployed to CF care centers.

  15. Ceftaroline pharmacokinetics and pharmacodynamics in patients with cystic fibrosis.

    Science.gov (United States)

    Barsky, Emily E; Pereira, Luis M; Sullivan, Keri J; Wong, Alanna; McAdam, Alexander J; Sawicki, Gregory S; Priebe, Gregory P; Goobie, Susan M

    2017-11-02

    Methicillin-resistant Staphylococcus aureus (MRSA) is a prevalent pathogen in patients with cystic fibrosis (CF) associated with increased morbidity. Ceftaroline fosamil is an intravenous (IV) cephalosporin with activity against MRSA. There are minimal data regarding dosing in the CF population. The objective of this study was to determine the pharmacokinetic and pharmacodynamic profile of IV ceftaroline in patients with CF. We conducted a single-center prospective study of children and young adults with CF receiving ceftaroline (15mg/kg IV up to 600mg every 8h) as part of treatment for a CF pulmonary exacerbation between June 2016 and April 2017. Seven patients were enrolled for a total of 10 treatment courses. For each treatment course, up to 8 plasma samples were assayed for ceftaroline using ultra-high performance liquid chromatography with mass spectrometry. Maximum plasma concentration, systemic clearance, and elimination half-life were calculated. The area under the curve (AUC) above the minimum inhibitory concentration (MIC) and the percent time above the MIC (%fT>MIC) were determined for each subject using MICs of 0.5, 1, and 2μg/mL and the measured MIC if available. The mean (SD) age for the 7 patients was 20.3 (8.0) years. Mean (SD) maximum plasma concentration of ceftaroline was 22.7 (9.6) μg/mL, systemic clearance 7.9 (3.3) L/h, and half-life 1.1 (0.4) hours. Using a MIC of 1 μg/mL, accepted as the MIC 90 of MRSA isolates, AUC above MIC mean (SD) was 53.6 (19.5) μg·h/mL, mean (SD) %fT>MIC was 75.7 (10.4), and all subjects had >60%fT>MIC. In this cohort of CF patients, mean ceftaroline half-life was 1.1h, which is notably lower than the general population. The dosing regimen studied, which exceeds the recommended dosing in the non-CF population, was adequate to achieve >60% time above the MIC in all patients. Copyright © 2017. Published by Elsevier B.V.

  16. Amoxicillin-clavulanic acid resistance in fecal Enterobacteriaceae from patients with cystic fibrosis and healthy siblings.

    Science.gov (United States)

    Duytschaever, Gwen; Huys, Geert; Boulanger, Linda; De Boeck, Kris; Vandamme, Peter

    2013-12-01

    The present study set out to detect and identify amoxicillin-clavulanic acid (AMC)-resistant Enterobacteriaceae in fecal samples of two patients with cystic fibrosis (CF) and their respective siblings. Fecal Enterobacteriaceae were enumerated onto EMB agar containing amoxicillin (AMX). A total of 173 CF isolates and 41 sibling isolates were grouped into seven Matrix-Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometry (MALDI-TOF MS) clusters and identified through 16S rRNA and rpoB sequence analysis. The fecal microbiota of patients with CF revealed a higher prevalence of AMX resistant Enterobacteriaceae compared to that of their healthy siblings. Whereas all selected isolates of healthy siblings were assigned to Escherichia coli, isolates of patients with CF belonged to Klebsiella oxytoca (58.4%), E. coli (28.3%), Klebsiella variicola (7.5%) or Citrobacter sp. (5.8%). All tested CF isolates showed a high resistance rate to AMX, and a lower level of resistance to the combination with clavulanic acid. In contrast, all tested sibling isolates were susceptible for both AMX and AMC. The higher abundance of AMX resistance in the investigated patients with CF suggests that frequent AMC administration may be one of the major contributing factors in the proliferation of Enterobacteriaceae and the development of resistant strains in the gastrointestinal tract. © 2013. Published by Elsevier B.V. on behalf of European Cystic Fibrosis Society. All rights reserved.

  17. Distribution of Burkholderia cepacia complex species among isolates recovered from persons with or without cystic fibrosis.

    Science.gov (United States)

    Reik, Rebecca; Spilker, Theodore; Lipuma, John J

    2005-06-01

    We analyzed Burkholderia cepacia complex isolates recovered from 1,218 cystic fibrosis (CF) patients and 90 patients without CF. Although all B. cepacia complex species were found, some were rarely identified. The distribution of species differed between the CF and non-CF populations and appears to be changing over time among CF patients.

  18. Calcium Stone Growth in Urine from Cystic Fibrosis Patients and Healthy Controls

    Science.gov (United States)

    McSorley, Anita; Jones, Andrew M.; Webb, A. Kevin; Rao, P. Nagaraj; Kavanagh, John P.

    2007-04-01

    Cystic fibrosis patients have an increased risk of renal stone disease. There is some evidence that this may be related to a different excretory pattern of stone risk factors, but an alternative hypothesis, that the urine of cystic fibrosis patients is deficient in urinary inhibitors of crystallization and stone formation has not been tested. Here we have grown calcium stones, in vitro, in the presence of urine from healthy controls and compared this with growth in the presence of urine from cystic fibrosis patients. A stone farm was used to grow twelve calcium stones simultaneously, firstly in artificial urine for about 200 hours and then in 90% whole human urine for another 500 hours. Six of the stones received urine from healthy controls and six received urine from adult cystic fibrosis patients. There were no significant differences in stone mass at any of the key time points or in the overall growth pattern (p>0.05) between stones destined for, or treated with, urine from CF patients and the controls. Human urine greatly inhibited stone growth in vitro but there was no difference in the growth rate in urine from healthy controls and CF patients. This refutes the hypothesis that a tendency for a higher prevalence of urinary stones in CF patients is related to a deficiency in inhibitory activity.

  19. A case report of a cystic fibrosis patient with repeated isolation of Trichosporon mycotoxinivorans identified by a novel short-extraction method

    OpenAIRE

    Goldenberger, Daniel; Hini?, Vladimira; Prince, Spasenija Savic; Tamm, Michael; Balestra, Anna-Maria; Hohler, Doris; Frei, Reno

    2016-01-01

    Abstract Background Trichosporon mycotoxinivorans is a recently described yeast-like fungal organism and its association as a pathogen for patients with cystic fibrosis (CF) was reported previously. We show the clinical course of a CF patient over 9 years as well as the applications of modern molecular and proteomic identification techniques of this rare fungus. Case presentation We present the case of a 32-year-old male CF patient with sputum cultures continuously positive with the anamorphi...

  20. Within-Host evolution of the Dutch high-prevalent pseudomonas aeruginosa clone ST406 during Chronic colonization of a patient with cystic fibrosis

    NARCIS (Netherlands)

    Van Mansfeld, Rosa; De Been, Mark; Paganelli, Fernanda; Yang, Lei; Bonten, Marc; Willems, Rob

    2016-01-01

    This study investigates adaptation of ST406, a prevalent P. aeruginosa clone, present in 15% of chronically infected cystic fibrosis (CF) patients in the Netherlands, in a newly infected CF patient during three years using whole genome sequencing (WGS), transcriptomics, and phenotypic assays,

  1. Nebulized hypertonic saline decreases IL-8 in sputum of patients with cystic fibrosis.

    LENUS (Irish Health Repository)

    Reeves, Emer P

    2012-02-01

    RATIONALE: Inflammation within the cystic fibrosis (CF) lung is mediated by inflammatory chemokines, such as IL-8. IL-8 is protected from proteolytic degradation in the airways by binding to glycosaminoglycans, while remaining active. Evidence that increased hypertonicity of airway secretions induced by hypertonic saline treatment alters levels of IL-8 is lacking. OBJECTIVES: To investigate the antiinflammatory effect of hypertonic saline (HTS) treatment within the CF lung by focusing on IL-8. METHODS: Degradation of IL-8 in CF lung secretions after treatment with glycosaminoglycan lyases and HTS was analyzed by Western blot analysis and ELISA. The ex vivo chemotactic activity of purified neutrophils in response to CF airway secretions was evaluated post nebulization of HTS (7% saline). MEASUREMENTS AND MAIN RESULTS: In vivo CF bronchoalveolar lavage fluid (BALF) IL-8 levels were significantly higher than the control group (P < 0.05). Digesting glycosaminoglycans in CF BALF displaced IL-8 from glycosaminoglycan matrices, rendering the chemokine susceptible to proteolytic cleavage. High sodium concentrations also liberate IL-8 in CF BALF in vitro, and in vivo in CF sputum from patients receiving aerosolized HTS, resulting in degradation of IL-8 and decreased neutrophil chemotactic efficiency. CONCLUSIONS: Glycosaminoglycans possess the ability to influence the chemokine profile of the CF lung by binding and stabilizing IL-8, which promotes neutrophil chemotaxis and activation. Nebulized hypertonic saline treatment disrupts the interaction between glycosaminoglycans and IL-8, rendering IL-8 susceptible to proteolytic degradation with subsequent decrease in neutrophil chemotaxis, thereby facilitating resolution of inflammation.

  2. Non-aspergillus allergic bronchopulmonary mycosis in a pediatric patient with cystic fibrosis.

    Science.gov (United States)

    Gondor, M; Michaels, M G; Finder, J D

    1998-12-01

    This article describes a child with cystic fibrosis (CF) and allergic bronchopulmonary mycosis caused by Tricosporon beigelii. An 11-year-old boy with CF failed to respond to conventional treatment for a pulmonary exacerbation. Bronchial washings contained copious budding yeast forms, subsequently identified as T beigelii. Total serum immunoglobulin E was elevated and precipitating antibodies to T beigelii were positive. Together these findings support the diagnosis of allergic bronchopulmonary mycosis. The patient improved with antifungal therapy and systemic glucocorticoid therapy. The pathologic potential of yeast in the airways of patients with CF is unclear. The diagnosis of non-Aspergillus allergic bronchopulmonary mycosis requires a high degree of suspicion and has potentially important implications for the management of patients with CF.

  3. 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.

  4. Functional Gene Correction for Cystic Fibrosis in Lung Epithelial Cells Generated from Patient iPSCs

    Directory of Open Access Journals (Sweden)

    Amy L. Firth

    2015-09-01

    Full Text Available Lung disease is a major cause of death in the United States, with current therapeutic approaches serving only to manage symptoms. The most common chronic and life-threatening genetic disease of the lung is cystic fibrosis (CF caused by mutations in the cystic fibrosis transmembrane regulator (CFTR. We have generated induced pluripotent stem cells (iPSCs from CF patients carrying a homozygous deletion of F508 in the CFTR gene, which results in defective processing of CFTR to the cell membrane. This mutation was precisely corrected using CRISPR to target corrective sequences to the endogenous CFTR genomic locus, in combination with a completely excisable selection system, which significantly improved the efficiency of this correction. The corrected iPSCs were subsequently differentiated to mature airway epithelial cells where recovery of normal CFTR expression and function was demonstrated. This isogenic iPSC-based model system for CF could be adapted for the development of new therapeutic approaches.

  5. Prevalence and Severity of Dysphonia in Patients with Cystic Fibrosis: A Pilot Study.

    Science.gov (United States)

    Willis, John; Michael, Deirdre D; Boyer, Holly; Misono, Stephanie

    2015-07-01

    To assess the prevalence and severity of dysphonia in patients with cystic fibrosis sinusitis. We hypothesized that patients with CF sinusitis, compared with 2 control groups, would have higher self-reported prevalence of dysphonia and greater severity of dysphonia, according to patient-reported outcome measures as well as auditory-perceptual evaluation by expert listeners. Cross-sectional comparative pilot study. Academic tertiary care clinic. Analysis included 37 study participants: 17 patients with CF sinusitis, 10 healthy individuals, and 10 patients with non-CF sinusitis. All participants completed the 10-item Voice Handicap Index (VHI-10) questionnaire and provided voice samples. On all samples, 6 blinded speech-language pathologists independently performed auditory-perceptual evaluation, using Consensus Auditory-Perceptual Evaluation of Voice. To assess severity of sinonasal symptoms, we used the 20-item Sinonasal Outcome Test (SNOT-20). Standard parametric and nonparametric statistical analysis was performed. The differences between the 3 groups in prevalence of abnormal VHI-10 scores were not statistically significant. SNOT-20 scores were similar in the 2 sinusitis patient groups. VHI-10 scores were highest in patients with CF sinusitis, intermediate in patients with non-CF sinusitis, and lowest in healthy individuals (P = .005). Auditory-perceptual evaluation demonstrated greater overall severity of dysphonia in patients with CF sinusitis compared with the 2 control groups (P = .0005). Cystic fibrosis sinusitis appeared to be associated with worse vocal function as measured by patient self-report as well as auditory-perceptual evaluation of voice compared with patients with non-CF sinusitis and healthy controls. Further investigation in this area is warranted. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2015.

  6. Challenges with current inhaled treatments for chronic Pseudomonas aeruginosa infection in patients with cystic fibrosis.

    LENUS (Irish Health Repository)

    Greally, Peter

    2012-06-01

    Pseudomonas aeruginosa (Pa) is the predominant pathogen infecting the airways of patients with cystic fibrosis (CF). Initial colonization is usually transient and associated with non-mucoid strains, which can be eradicated if identified early. This strategy can prevent, or at least delay, chronic Pa infection, which eventually develops in the majority of patients by their late teens or early adulthood. This article discusses the management and latest treatment developments of Pa lung infection in patients with CF, with a focus on nebulized antibiotic therapy.

  7. 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...... no significant change in total QoL score. However, the scores in the domain of treatment burden and emotional functioning increased significantly. There was no significant difference in QoL and lung function between patients participating in the exercise programme (n = 24) and non-participants (n = 14). A 12...

  8. Bone subtraction radiography in adult patients with cystic fibrosis.

    Science.gov (United States)

    Obmann, Verena C; Christe, Andreas; Ebner, Lukas; Szucs-Farkas, Zsolt; Ott, Sebastian R; Yarram, Sai; Stranzinger, Enno

    2017-08-01

    Background Bone subtraction radiography allows reading pulmonary changes of chest radiographs more accurately without superimposition of bones. Purpose To evaluate the value of bone subtraction chest radiography using dual energy (DE) bone subtracted lung images compared to conventional radiographs (CR) in adult patients with cystic fibrosis (CF). Material and Methods Forty-nine DE radiographs of 24 patients (16 men) with CF (mean age, 32 years; age range, 18-71 years) were included. Lung function tests were performed within 10 days of the radiographs. Two radiologists evaluated all CR, DE, and CR + DE radiographs using the modified Chrispin-Norman score (CNS) and a five-point score for the confidence. Findings were statistically evaluated by Friedman ANOVA and Wilcoxon matched-pairs test. Results There was significant difference of CNS between CR and DE ( P = 0.044) as well as CR and CR + DE ( P < 0.001). CNS of CR images showed moderate correlation with FEV1% (R = 0.287, P = 0.046) while DE and CR + DE correlated poorly with FEV1% (R = 0.023, P = 0.874 and R = 0.04, P = 0.785). A higher confidence was achieved with bone-subtracted radiographs compared to radiographs alone (median, CR 3.3, DE 3.9, CR + DE 4.1, for both P < 0.001). Conclusion DE radiographs are reliable for the evaluation of adult patients with CF in acute exacerbation. For yearly surveillance, CR and DE radiographs may play a limited role. However, in clinical routine, DE radiographs are useful for adult CF patients and may depict more accurately inflammatory changes than CR.

  9. Pretransplant HRCT Characteristics Are Associated with Worse Outcome of Lung Transplantation for Cystic Fibrosis Patients.

    Directory of Open Access Journals (Sweden)

    Gerdien Belle-van Meerkerk

    Full Text Available Peri- and postoperative complications diminish the outcome of lung transplantation (LTx in patients with cystic fibrosis (CF. We hypothesized that the degree of pathological findings on pre-LTx high resolution computed tomography (HRCT is associated with higher morbidity and mortality in CF.All our CF patients undergoing LTx between 2001 and 2011 were included. HRCT examinations were evaluated according to a scoring system for pulmonary disease in CF patients, the Severe Advanced Lung Disease (SALD score and for pleural involvement.Fifty-three patients were included. Dominant infectious/inflammatory disease according to the SALD score was observed in 10 patients (19%. Five (50% of those patients died within one week after LTx, compared to 2 (5% patients without dominant infectious/inflammatory disease (p<0.001. This difference in survival percentage remained also significant in multivariate analysis. Patients with infectious/inflammatory disease received more packed red blood cells; 26 versus 8 in the first week (p<0.001. Pleural thickening was associated with higher requirement (10 units for blood transfusion during LTx, compared to patients with normal pleura (4 units.The analysis of HRCT in CF patients according to the SALD score showed that dominant infectious/inflammatory disease is associated with a higher mortality after LTx. If confirmed in other studies, HRCT might aid estimation of surgical risk in some adult CF patients.

  10. Pulmonary exacerbation due to colistin-resistant Stenotrophomonas maltophilia in a Bulgarian cystic fibrosis patient.

    Science.gov (United States)

    Stoyanova, Gergana P; Strateva, Tanya V; Atanasova, Svetlana T; Miteva, Dimitrinka S; Papochieva, Vera E; Perenovska, Penka I

    2016-01-01

    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. As Pseudomonas aeruginosa is the dominant pathogen in CF patients it has been the major target of all treatment strategies, possible antibiotic regimens and recommendations for years. More sophisticated antibiotic therapies introduced over the last decades have helped to improve the prognosis in cystic fibrosis, but then new multidrug-resistant pathogens emerged. We present a case of cystic fibrosis in a 16-year-old boy with pulmonary exacerbation due to colistin-resistant Stenotrophomonas maltophilia. This case raises some interesting questions regarding the antibiotic policy and treatment options in our country for patients with CF and multidrug-resistant strains. Colistin is used at present in Bulgaria as a strategic last option for the CF patients but with the advent of new more drug-resistant strains therapeutic approach should change - for instance, there should be restrictions imposed on the use of levofloxacin and trimethoprim/sulfamethoxazole which are regarded as "cheap and not so potent" antibiotics suitable for any infection and use them only in strict dependence on the respective culture results.

  11. Suggestions for the optimization of the initial tobramycin dose in adolescent and adult patients with cystic fibrosis

    NARCIS (Netherlands)

    Touw, D J; Vinks, A A; Heijerman, H G; Hermans, J; Bakker, W

    Clinical pharmacokinetic data of intravenously administered tobramycin in 34 patients with cystic fibrosis (CF) were correlated with patient parameters. Patients began tobramycin therapy with 10 mg/kg/day in three divided doses. Peak and trough serum concentrations were measured. Tobramycin dose was

  12. Lack of standardization in the procedures for mycological examination of sputum samples from CF patients: a possible cause for variations in the prevalence of filamentous fungi.

    Science.gov (United States)

    Borman, Andrew M; Palmer, Michael D; Delhaes, Laurence; Carrère, Jacqueline; Favennec, Loïc; Ranque, Stéphane; Gangneux, Jean-Pierre; Horré, Regine; Bouchara, Jean-Philippe

    2010-11-01

    Filamentous fungi and yeasts are increasingly isolated from respiratory secretions of patients with cystic fibrosis (CF), and persistent fungal colonization of the airways of such patients is thought to exacerbate lung damage. While many independent studies have identified Aspergillus fumigatus complex as the principal colonizing fungus in CF, increased awareness of the role of fungi in CF pathology coupled with improved mycological culture and identification methods have resulted in a number of other fungi being isolated and reported from CF sputum samples, including A. terreus, members of the Pseudallescheria boydii/Scedosporium apiospermum complex, Exophiala dermatitidis, Paecilomyces and Penicillium species. However, the range of fungal pathogens isolated and the relative prevalence of individual species vary widely between reports from different geographical CF centres, and as yet no standardized method for the mycological examination of CF sputum samples has been adopted. Here, we examine the potential contribution of the mycological methods employed to examine CF respiratory secretions relative to the variability in the fungal biota reported. The role of direct microscopic examination of respiratory samples and the impact of the culture conditions used on the detection of specific fungal pathogens are addressed, and the potential significance of isolation of yeast species from CF patient airways is discussed.

  13. Genetic modifiers of nutritional status in cystic fibrosis1234

    OpenAIRE

    Bradley, Gia M; Blackman, Scott M; Watson, Christopher P; 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.

  14. Isolation and characterization of microparticles in sputum from cystic fibrosis patients.

    Science.gov (United States)

    Porro, Chiara; Lepore, Silvia; Trotta, Teresa; Castellani, Stefano; Ratclif, Luigi; Battaglino, Anna; Di Gioia, Sante; Martínez, Maria C; Conese, Massimo; Maffione, Angela B

    2010-07-09

    Microparticles (MPs) are membrane vesicles released during cell activation and apoptosis. MPs have different biological effects depending on the cell from they originate. Cystic fibrosis (CF) lung disease is characterized by massive neutrophil granulocyte influx in the airways, their activation and eventually apoptosis. We investigated on the presence and phenotype of MPs in the sputum, a rich non-invasive source of inflammation biomarkers, of acute and stable CF adult patients. Spontaneous sputum, obtained from 21 CF patients (10 acute and 11 stable) and 7 patients with primary ciliary dyskinesia (PCD), was liquefied with Sputasol. MPs were counted, visualized by electron microscopy, and identified in the supernatants of treated sputum by cytofluorimetry and immunolabelling for leukocyte (CD11a), granulocyte (CD66b), and monocyte-macrophage (CD11b) antigens. Electron microscopy revealed that sputum MPs were in the 100-500 nm range and did not contain bacteria, confirming microbiological tests. CF sputa contained higher number of MPs in comparison with PCD sputa. Levels of CD11a+-and CD66b+-, but not CD11b+-MPs were significantly higher in CF than in PCD, without differences between acute and stable patients. In summary, MPs are detectable in sputa obtained from CF patients and are predominantly of granulocyte origin. This novel isolation method for MPs from sputum opens a new opportunity for the study of lung pathology in CF.

  15. Sinus bacteriology in patients with cystic fibrosis or primary ciliary dyskinesia

    DEFF Research Database (Denmark)

    Møller, Maria E.; Alanin, Mikkel C.; Grønhøj, Christian

    2017-01-01

    Background: A correlation exists between the microbial flora of the upper and lower airways in patients with cystic fibrosis (CF) or with primary ciliary dyskinesia (PCD). The sinuses can function as a bacterial reservoir where gram-negative bacteria adapt to the airways and repeatedly are aspira......Background: A correlation exists between the microbial flora of the upper and lower airways in patients with cystic fibrosis (CF) or with primary ciliary dyskinesia (PCD). The sinuses can function as a bacterial reservoir where gram-negative bacteria adapt to the airways and repeatedly...... flora in the sinuses and nasal cavities of patients with CF or PCD.  Methods: A number of medical literature data bases were systematically searched between January 1960 and July 2016. We applied the following inclusion criteria: a minimum of one case of PCD (or Kartagener syndrome) or CF......, and microbiology analyses from the nose or paranasal sinuses.  Results: We included 46 studies (1823 patients) from 16 countries. Staphylococcus aureus was found in 30% of the noses and sinuses of patients with CF. Other common bacteria found included Pseudomonas aeruginosa, coagulase negative staphylococci...

  16. [Peripherally inserted central catheter antibiotic therapy for cystic fibrosis patients].

    Science.gov (United States)

    Betegnie, A-L; Cracowski, C; Bedouch, P; Segond, C; Robein-Dobremez, M-J; Pin, I; Allenet, B

    2014-11-01

    Peripherally inserted central catheters (PICC) are more and more used for intravenous antibiotic infusions in cystic fibrosis (CF) patients in the Grenoble area (France). The aim of this study was to assess the use of this technique in this indication. 1. Retrospective evaluation of 102 consecutive PICC insertions over 3years and the incidence of adverse events during the therapy. 2. Prospective evaluation of 12 patient's satisfaction and their nurses over a 3-month period. 3. Comparative analysis of single domiciliary treatment costs using PICC versus peripheral catheter (PC). 102 PICC insertions were attempted in 31 patients. Seven failures and 7 complications occurred during the treatment requiring removal of the PICC, i.e. an overall success rate of 86.2% (88/102). Pain during PICC introduction was 4.2/10 (visual analogical scale). Mean satisfaction levels during therapy were 9.3/10 for patients and 8.7/10 for nurses. Compared with PC, all the patients said that PICC was "more comfortable". Differential costs of treatment with PC and with PICC at home were estimated at 57.15€ and 590.16€ respectively. PICC is an alternative to CP for intravenous antibiotherapy in CF patients, providing better safety and comfort. PICC use should be promoted in this indication. Copyright © 2013 SPLF. Published by Elsevier Masson SAS. All rights reserved.

  17. Ten years' of experience in patient education of families with a child/adolescent suffering from cystic fibrosis

    DEFF Research Database (Denmark)

    Bregnballe, Vibeke

    2007-01-01

    of six lessons of 3−4 hours every second month in one year. For the 5-year-olds it is three lessons of three hours in three successive months. For the parents with newly diagnosed children we have meetings three times a year. The CF school is rooted in practice and experiences. Two books have been made......Aims: The patient education programme for families with children or adolescents with cystic fibrosis (the CF school) was established ten years ago to enable patients to make choices in their lives as CF patients. The CF school provides patients with knowledge about cystic fibrosis (CF), teaches...... them how to cope with the disease and how to take responsibility for the treatment. Methods: The CF school has developed during the last ten years. Now we have a CF school for 5-, 10- and 14-year-olds and annual meetings for each group in between. The CF school for the 10- and 14-year-olds consists...

  18. [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. Copyright © 2015 Asociación Argentina de Microbiología. Publicado por Elsevier España, S.L.U. All rights reserved.

  19. True microbiota involved in chronic lung infection of cystic fibrosis patients found by culturing and 16S rRNA gene analysis

    DEFF Research Database (Denmark)

    Rudkjøbing, Vibeke Børsholt; Thomsen, Trine R; Alhede, Morten

    2011-01-01

    Patients suffering from cystic fibrosis (CF) develop chronic lung infection. In this study, we investigated the microorganisms present in transplanted CF lungs (n = 5) by standard culturing and 16S rRNA gene analysis. A correspondence between culturing and the molecular methods was observed. In c...

  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...

  1. Therapies for Cystic Fibrosis

    Science.gov (United States)

    ... Search What Is CF? X close ABOUT CYSTIC FIBROSIS Learn about cystic fibrosis, a genetic disorder that affects the lungs, pancreas, ... or your child has just been diagnosed with cystic fibrosis, or your doctor has recommended testing for CF, ...

  2. Neonatal cystic fibrosis screening test

    Science.gov (United States)

    Cystic fibrosis screening - neonatal; Immunoreactive trypsinogen; IRT test; CF - screening ... Cystic fibrosis is a disease passed down through families. CF causes thick, sticky mucus to build up in ...

  3. Functional lung MRI for regional monitoring of patients with cystic fibrosis.

    Directory of Open Access Journals (Sweden)

    Till F Kaireit

    Full Text Available To test quantitative functional lung MRI techniques in young adults with cystic fibrosis (CF compared to healthy volunteers and to monitor immediate treatment effects of a single inhalation of hypertonic saline in comparison to clinical routine pulmonary function tests.Sixteen clinically stable CF patients and 12 healthy volunteers prospectively underwent two functional lung MRI scans and pulmonary function tests before and 2h after a single treatment of inhaled hypertonic saline or without any treatment. MRI-derived oxygen enhanced T1 relaxation measurements, fractional ventilation, first-pass perfusion parameters and a morpho-functional CF-MRI score were acquired.Compared to healthy controls functional lung MRI detected and quantified significantly increased ventilation heterogeneity in CF patients. Regional functional lung MRI measures of ventilation and perfusion as well as the CF-MRI score and pulmonary function tests could not detect a significant treatment effect two hours after a single treatment with hypertonic saline in young adults with CF (p>0.05.This study shows the feasibility of functional lung MRI as a non-invasive, radiation-free tool for monitoring patients with CF.

  4. Iodine deficiency and subclinical hypothyroidism are common in cystic fibrosis patients.

    Science.gov (United States)

    Naehrlich, Lutz; Dörr, Helmuth-Günther; Bagheri-Behrouzi, Azadeh; Rauh, Manfred

    2013-04-01

    Disorders of thyroid function have been inconsistently described in cystic fibrosis (CF) patients and in CF transmembrane regulator protein knockout animals. The literature lacks reports on iodine status of CF individuals. We hypothesize, that iodine deficiency is common in CF and account for abnormal thyroid function in CF patients. We investigated 129 children, adolescents, and adults with CF, who were living in the northern part of Bavaria/Germany. Malnutrition and lung function were analyzed. Urinary iodine excretion, TSH (thyroid-stimulating hormone), and ft4 (free thyroxine) were measured and set in relation to population-based, age-adjusted reference ranges. Subclinical hypothyroidism (normal fT4, elevated TSH) was found in 11.6% of subjects, and iodine deficiency in 83.7%. No correlations were found with age, BMI, status of malnutrition, or lung function. Dramatic iodine deficiency was found in our cohort of CF patients. This condition can cause subclinical hypothyroidism; therefore, an individual iodine supplementation program is necessary and should be started immediately. Crown Copyright © 2012. Published by Elsevier GmbH. All rights reserved.

  5. Insights into the respiratory tract microbiota of patients with cystic fibrosis during early Pseudomonas aeruginosa colonization

    Energy Technology Data Exchange (ETDEWEB)

    Keravec, Marlene; Mounier, Jerome; Prestat , Emmanuel; Vallet, Sophie; Jansson, Janet K.; Bergaud , Gaetaqn; Rosec, Silvain; Gourious, Stephanie; Rault, Gilles; Coton, Emmanuel; Barbier, George; Hery-Arnaud, Geneveieve

    2015-08-09

    Abstract Pseudomonas aeruginosa plays a major role in cystic fibrosis (CF) progression. Therefore, it is important to understand the initial steps of P. aeruginosa infection. The structure and dynamics of CF respiratory tract microbial communities during the early stages of P. aeruginosa colonization were characterized by pyrosequencing and cloning-sequencing. The respiratory microbiota showed high diversity, related to the young age of the CF cohort (mean age 10 years). Wide inter- and intra-individual variations were revealed. A common core microbiota of 5 phyla and 13 predominant genera was found, the majority of which were obligate anaerobes. A few genera were significantly more prevalent in patients never infected by P. aeruginosa. Persistence of an anaerobic core microbiota regardless of P. aeruginosa status suggests a major role of certain anaerobes in the pathophysiology of lung infections in CF. Some genera may be potential biomarkers of pulmonary infection state.

  6. Sinus biofilms in patients with cystic fibrosis: is adjusted eradication therapy needed?

    DEFF Research Database (Denmark)

    Aanaes, Kasper; Eickhardt, Steffen; Johansen, Helle Krogh

    2015-01-01

    The paranasal sinuses can be a focus for colonisation of the cystic fibrosis (CF) lungs with pathogens. In the sinuses, bacteria can adapt to the lung environment and enhance their antibiotic resistance, with biofilm formation thought to be the most important adaptive mechanism, causing recalcitr......The paranasal sinuses can be a focus for colonisation of the cystic fibrosis (CF) lungs with pathogens. In the sinuses, bacteria can adapt to the lung environment and enhance their antibiotic resistance, with biofilm formation thought to be the most important adaptive mechanism, causing...... recalcitrant disease. The presence of biofilms in CF sinuses is sparsely described. In this descriptive cross-sectional study, the sinus mucosa from 16 CF patients were analysed by fluorescence in situ hybridization using specific peptide nucleic acid (PNA-FISH) probes for Pseudomonas aeruginosa...... and Staphylococcus aureus to demonstrate the presence of biofilms. Small clusters of biofilm were visualised lining the sinus mucosa of CF patients. Biofilms were found in 10 out of 18 cases; 7 with intermittent lung colonisation, 2 chronically infected, and one lung transplanted patient. Finding P. aeruginosa...

  7. Nebulized hypertonic saline via positive expiratory pressure versus via jet nebulizer in patients with severe cystic fibrosis.

    LENUS (Irish Health Repository)

    O'Connell, Oisin J

    2011-06-01

    Nebulized hypertonic saline is a highly effective therapy for patients with cystic fibrosis (CF), yet 10% of patients are intolerant of hypertonic saline administered via jet nebulizer. Positive expiratory pressure (PEP) nebulizers splint open the airways and offers a more controlled rate of nebulization.

  8. Effects of nutritional status and dietetic interventions on survival in Cystic Fibrosis patients before and after lung transplantation

    NARCIS (Netherlands)

    Hollander, F.M.; Pierre, van D.D.; Roos, de N.M.; Graaf, van de E.A.; Iestra, J.A.

    2014-01-01

    Background: This study retrospectively investigated nutritional status, dietetic intervention and intake in Cystic Fibrosis (CF) patients before and after lung transplantation (LTX). Methods: Body Mass Index (BMI), Fat Free Mass Index (FFMI) and nutritional intake were retrieved from 75 out-patients

  9. Cystic Fibrosis and gastroesophageal reflux disease.

    Science.gov (United States)

    Maqbool, Asim; Pauwels, Ans

    2017-11-01

    Gastroesophageal reflux is common in children and adults with cystic fibrosis (CF). Pathological gastroesophageal reflux disease (GERD) is also frequent in patients of all ages with CF. This article reviews the pathophysiology, diagnostic work-up, management options, complications, and future directions in the evaluation and management of GERD - unique to and pertinent for - patients with CF in particular. Copyright © 2017 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  10. Occurrence of hypermutable Pseudomonas aeruginosa in cystic fibrosis patients is associated with the oxidative stress caused by chronic lung inflammation

    DEFF Research Database (Denmark)

    Ciofu, Oana; Riis, Bente; Pressler, Tacjana

    2005-01-01

    .4% of the CF patients. The earliest mutator P. aeruginosa isolates were found after 5 years from the onset of the chronic lung infection, and once they were present in the CF lung, the prevalence increased with time. The hypermutable isolates were significantly more resistant to antipseudomonal antibiotics......Oxidative stress caused by chronic lung inflammation in patients with cystic fibrosis (CF) and chronic lung infection with Pseudomonas aeruginosa is characterized by the reactive oxygen species (ROS) liberated by polymorphonuclear leukocytes (PMNs). We formulated the hypothesis that oxidation...

  11. 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

  12. Listening to motivational music while walking elicits more positive affective response in patients with cystic fibrosis.

    Science.gov (United States)

    Calik-Kutukcu, Ebru; Saglam, Melda; Vardar-Yagli, Naciye; Cakmak, Aslihan; Inal-Ince, Deniz; Bozdemir-Ozel, Cemile; Sonbahar-Ulu, Hazal; Arikan, Hulya; Yalcin, Ebru; Karakaya, Jale

    2016-05-01

    The purpose of this study was to investigate the effects of motivational and relaxation music on affective responses during exercise in patients with cystic fibrosis (CF). Thirty-seven patients with CF performed the 6-min walk test (6MWT) under three experimental conditions: listening to no music, relaxation music, and motivational music. 6-min distance × body weight product (6MWORK) was calculated for each trial. Patients' affective responses during exercise was evaluated with Feeling Scale (FS). The motivational qualities of music were evaluated with the Brunel Music Rating Inventory-2 (BMRI-2). 6MWORK was significantly lower while listening to relaxation music compared to 6MWORK without music (p music than 6MWT with relaxation music (p music can lead to positive affective response during exercise and increase the enjoyment of patients from exercises in CF. Copyright © 2016 Elsevier Ltd. All rights reserved.

  13. Toll Like Receptors 4 and 2 Expression in the Bronchial Mucosa of Patients with Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    Hans-Peter Hauber

    2005-01-01

    Full Text Available BACKGROUND: Cystic fibrosis (CF is a lung disease characterized by chronic infection with Gram-negative bacteria Pseudomonas aeruginosa and Gram-positive bacteria Staphylococcus aureus. Recently, toll-like receptor (TLR 4 has been shown to be responsible for the lipopolysaccharide (LPS-mediated immune response. While TLR2 mediates responses driven by bacterial lipoproteins and peptidoglycans from Gram-positive bacteria, LPS derived from P aeruginosa may stimulate the immune response in the airways of patients with CF via activation of TLR4.

  14. Radiation ulcers in patients with cancer of the torgue after 252Cf therapy

    International Nuclear Information System (INIS)

    Galantseva, G.F.; Guseva, L.I.; Plichko, V.I.

    1984-01-01

    Interstitial therapy with 252 Cf was conducted for 57 patients with cancer of the tongue. It was established that clinical course of radiation tungue ulcers after interstitial therapy with 252 Cf doesn't differ sufficiently from the course of radiation injuries, occurring after γ-radiation application. Radiation ulcers are often observed in patients after the treatment of recurrent and residual tumors with 252 Cf (in 33% of patients); the ulcers appeared in 15% of cases in patients after the treatment of initial ulcers tumors. Conservative treatment provide the cure of radiation tongUe ulcers after interstitial therapy with 252 Cf

  15. Radiation ulcers in patients with cancer of the tongue after /sup 252/Cf therapy

    Energy Technology Data Exchange (ETDEWEB)

    Galantseva, G.F.; Guseva, L.I.; Plichko, V.I. (Akademiya Meditsinskikh Nauk SSSR, Obninsk. Nauchno-Issledovatel' skij Inst. Meditsinskoj Radiologii)

    1984-01-01

    Interstitial therapy with /sup 252/Cf was conducted for 57 patients with cancer of the tongue. It was established that clinical course of radiation tungue ulcers after interstitial therapy with /sup 252/Cf doesn't differ sufficiently from the course of radiation injuries, occurring after ..gamma..-radiation application. Radiation ulcers are often observed in patients after the treatment of recurrent and residual tumors with /sup 252/Cf (in 33% of patients); the ulcers appeared in 15% of cases in patients after the treatment of initial ulcers tumors. Conservative treatment provide the cure of radiation tongue ulcers after interstitial therapy with /sup 252/Cf.

  16. Prevalence of Burkholderia species, including members of Burkholderia cepacia complex, among UK cystic and non-cystic fibrosis patients.

    Science.gov (United States)

    Kenna, Dervla T D; Lilley, Daniel; Coward, Amy; Martin, Kate; Perry, Claire; Pike, Rachel; Hill, Robert; Turton, Jane F

    2017-04-01

    We aimed to establish the prevalence of different Burkholderia species among UK cystic fibrosis (CF) and non-CF patients over a 2 year period. Matrix-assisted laser desorption/ionization-time of flight mass spectrometry was used to identify isolates to genus level, followed by recA/gyrB sequence clustering or species-specific PCR. In all, 1047 Burkholderia isolates were submitted for identification from 361 CF patients and 112 non-CF patients, 25 from the hospital environment and three from a commercial company. Potential cross-infection was assessed by pulsed-field gel electrophoresis (PFGE) and multi- locus-sequence typing (MLST). MICs were determined for 161 Burkholderia cepacia complex (Bcc) isolates. CF Trust registry data were sought to examine clinical parameters relating to Bcc infection. Burkholderia multivorans was the most prevalent species among CF patients affecting 56 % (192) patients, followed by Burkholderia cenocepacia IIIA (15 %; 52 patients). Five novel recA clusters were found. Among non-CF patients, Burkholderia cepacia was the most prevalent species (37/112; 34 %), with 18 of 40 isolates part of a UK-wide B. cepacia 'cluster'. This and three other clusters were investigated by PFGE and MLST. Cable-pili positive isolates included two novel sequence types and representatives of ET12. Antibiotic susceptibility varied between and within species and CF/non- CF isolates. CF Trust registry data suggested no significant difference in lung function between patients harbouring B. cenocepacia, B. multivorans and other Bcc species (P=0.81). The dominance of B. multivorans in CF, the presence of a B. cepacia cluster among non-CF patients and the existence of putative novel species all highlighted the continuing role of Burkholderia species as opportunistic pathogens.

  17. Bioelectrical impedance in young patients with cystic fibrosis: Validation of a specific equation and clinical relevance.

    Science.gov (United States)

    Charatsi, A M; Dusser, P; Freund, R; Maruani, G; Rossin, H; Boulier, A; Le Bourgeois, M; Chedevergne, F; de Blic, J; Letourneur, A; Casimir, G; Jais, J P; Sermet-Gaudelus, I

    2016-11-01

    Body composition (BC) analysis based on bioelectrical impedance analysis (BIA) provides conflicting results. The purpose of the study was to validate an equation specific for young patients with cystic fibrosis (CF), describe their BC and investigate its association with lung function. Fifty-four young CF patients were evaluated by BIA and dual X-ray absorptiometry (DXA). An empirically derived CF-specific equation for fat-free mass (FFM) estimation by BIA was elaborated after stepwise multivariate regression and the agreement between BIA and DXA was assessed by Bland-Altman plots. The association between BC and lung function was investigated by regression analysis. The mean difference between the BIA and DXA assessment was close to zero. A total of 22.5% of patients (n=9) presented a FFM z-score≤-2. They had a worse pulmonary function and diaphragmatic impairment. Among these 9 patients, 7 had a normal BMI z-score>-1. BIA, based on a CF-specific equation, is a reliable method for BC assessment and allows the identification of patients at risk of nutritional degradation and bad respiratory prognosis. Copyright © 2016 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  18. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.

    Science.gov (United States)

    Estivill, X; Bancells, C; Ramos, C

    1997-01-01

    The geographic distribution of 272 cystic fibrosis (CF) mutations has been studied by assessing the origin of 27,177 CF chromosomes from 29 European countries and three countries from the North of Africa. The most common mutations are delta F308 (66.8%), G542X (2.6%), N1303K (1.6%), G551D (1.5%) and W1282X (1.0%). The delta F508 mutation has the highest frequency in Denmark (87.2%) and the lowest in Algeria (26.3%). Mutation G542X is common in the Mediterranean countries, with a mean frequency of 6.1%. N1303K is found in most of the western and Mediterranean countries and has the highest frequency in Tunisia (17.2%). The wide distribution of these mutations suggests an ancient origin. G551D is common in north-west and central Europe, but is uncommon in other parts of Europe. W1282X has the highest frequency in Israel (36.2%), being also common in most Mediterranean countries and north Africa. Seventeen mutation have frequencies between 0.1 and 0.9%, 1717-1G-->A (0.83%), R553X (0.75%), R1162X (0.51%), 621 + 1G-->T (0.54%) and 2183AA-->G (0.36%), being the most common ones. Some mutations reach relatively high frequencies in some extended geographic regions, such as mutation 394delTT in northern Europe (1.1-28.8%), R117H in northwestern Europe (1.3-3.0%), R553X in central Europe (1.1-24.4%), 1717-1G-->A in Belgium and France (1.1-5.3%), and 2183AA-->G in Italy and Greece (3.2%). Other mutations are only common in small regions: T338I (Sardinia), 711 + 1G-->T (Tunisia), R1162X (Algeria and north of Italy), 1609delCA (east of Spain), 1811 + 1.6kbA-->G (southeastern Spain), R1066C (Portugal), S549R (Algeria), R334W (Crete), 621 + 1G-->T (Central Greece), 3849 + 10kbC-->T (Israel), 2789 + 5G-->A (south of Greece), 451 + 1G--A (Israel), R347P (south of Bulgaria), 1677delTA (south of Bulgaria and Turkey), G85E (south of Greece), R347H (Turkey), 3905insT (Switzerland), 1078delT (Brittany), 1898 + 1G-->A (Wales), A455E (The Netherlands), delta I507 (Brittany), 3659del

  19. Emergence of cfr-Mediated Linezolid Resistance in a Methicillin-Resistant Staphylococcus aureus Epidemic Clone Isolated from Patients with Cystic Fibrosis.

    Science.gov (United States)

    de Dios Caballero, Juan; Pastor, María Dolores; Vindel, Ana; Máiz, Luis; Yagüe, Genoveva; Salvador, Carme; Cobo, Marta; Morosini, María-Isabel; del Campo, Rosa; Cantón, Rafael

    2015-12-14

    Resistance to linezolid (LZD) in methicillin-resistant Staphylococcus aureus (MRSA) isolates from patients with cystic fibrosis (CF) is due mainly to ribosomal mutations. We report on four CF patients with LZD-resistant MRSA bronchopulmonary infections by strains carrying the cfr gene. Strains from one patient also harbored the G2576U mutation (23S rRNA) and the G139R substitution (L3 protein). All strains belonged to the epidemic clone ST125 MRSA IVc. Our results support the monitoring of LZD resistance emergence in CF and non-CF MRSA isolates. Copyright © 2016, American Society for Microbiology. All Rights Reserved.

  20. Acquired resistance to macrolides inPseudomonas aeruginosafrom cystic fibrosis patients.

    Science.gov (United States)

    Mustafa, Muhammad-Hariri; Khandekar, Shaunak; Tunney, Michael M; Elborn, J Stuart; Kahl, Barbara C; Denis, Olivier; Plésiat, Patrick; Traore, Hamidou; Tulkens, Paul M; Vanderbist, Francis; Van Bambeke, Françoise

    2017-05-01

    Cystic fibrosis (CF) patients receive chronic treatment with macrolides for their antivirulence and anti-inflammatory properties. We, however, previously showed that Pseudomonas aeruginosa , considered as naturally resistant to macrolides, becomes susceptible when tested in a eukaryotic medium rather than a conventional broth.We therefore looked for specific macrolide resistance determinants in 333 CF isolates from four European CF centres in comparison with 48 isolates from patients suffering from hospital-acquired pneumonia (HAP).Minimum inhibitory concentrations (MICs) of macrolides and ketolides measured in eukaryotic medium (RPMI-1640) were higher towards CF than HAP isolates. Gene sequencing revealed mutations at three positions (2045, 2046 and 2598) in domain V of 23S rRNA of 43% of sequenced CF isolates, but none in HAP isolates. Enzymes degrading extracellular polymeric substances also reduced MICs, highlighting a role of the mucoid, biofilm-forming phenotype in resistance. An association between high MICs and chronic azithromycin administration was evidenced, which was statistically significant for patients infected by the Liverpool Epidemic Strain.Thus, ribosomal mutations are highly prevalent in CF isolates and may spread in epidemic clones, arguing for prudent use of oral macrolides in these patients. Measuring MICs in RPMI-1640 could be easily implemented in microbiology laboratories to phenotypically detect resistance. Copyright ©ERS 2017.

  1. Molecular epidemiology and dynamics of Pseudomonas aeruginosa populations in lungs of cystic fibrosis patients

    DEFF Research Database (Denmark)

    Jelsbak, Lars; Johansen, Helle Krogh; Frost, Anne Louise Viborg

    2007-01-01

    The ability to establish lifelong persistent infections is a fundamental aspect of the interactions between many pathogenic microorganisms and their mammalian hosts. One example is chronic lung infections by the opportunistic pathogen Pseudomonas aeruginosa in cystic fibrosis (CF) patients...... than 2 decades. Our data also suggest that the P. aeruginosa population structure in the CF patient airways has been influenced by competition between different clones and that the two dominant clones have been particularly competitive within the lungs, which may add to their overall establishment...... and cause long-term chronic infections. These findings suggest that hitherto-unrecognized evolutionary pathways may be involved in the development of successful and persistent P. aeruginosa colonizers of CF patient lungs....

  2. Acute appendicitis mimicking intestinal obstruction in a patient with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Chun-Han Chen

    2012-10-01

    Full Text Available Cystic fibrosis (CF is an inherited disease of the secretory glands caused by mutations of the cystic fibrosis transmembrane regulator (CFTR gene. The clinical manifestations of CF are repetitive lung infections, biliary cirrhosis, pancreatic abnormalities, and gastrointestinal disorders. We report a 21-year-old Taiwanese man with CF who had abdominal pain for 2 days. The diagnosis of CF had been confirmed by peripheral blood analysis of the CFTR gene 5 years before admission. He presented to the emergency department with nausea, vomiting, abdominal distension, and crampy abdominal pain, which is atypical for acute appendicitis. The physical examination and a series of studies revealed intestinal obstruction, but acute appendicitis could not be ruled out. After conservative treatment, together with empiric antibiotics, the refractory abdominal pain and leukocytosis with a left-shift warranted surgical intervention. A diagnostic laparoscopy revealed a swollen, hyperemic appendix, a severely distended small intestine, and serous ascites. The laparoscopic procedure was converted to a laparotomy for open disimpaction and appendectomy. He was discharged on the eighth postoperative day. The histologic examination of the appendix was consistent with early appendicitis. In conclusion, acute abdominal pain in adult CF patients is often associated with intestinal obstruction syndrome. The presentation of concurrent appendicitis may be indolent and lead not only to diagnostic difficulties, but also a number of therapeutic choices.

  3. Cystic fibrosis - Comparison between patients in paediatric and adult age.

    Science.gov (United States)

    Santos, V; Cardoso, A V; Lopes, C; Azevedo, P; Gamboa, F; Amorim, A

    Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians. Although most cases are diagnosed in childhood, diagnosis in adults is apparently increasing. Evaluate the adult population with CF, comparing patients who were diagnosed before and after 18 years of age. Retrospective analysis of patients followed in three main medical centres in Portugal in 2012. Comparison of two groups: G1 - patients diagnosed at <18 years and G2 - patients diagnosed at ≥18 years. 89 adults were identified: 61.8% in G1, 38.2% in G2. Gender distribution was similar in both groups. Average age in G2 was higher (38.3±8.4 vs. 26.8±6.1 years, p<0.001). Respiratory symptoms most frequently led to CF diagnosis in all patients, mainly in adulthood. There was a greater percentage of patients homozygous for the mutation delF508 in G1 (43.6 vs. 8.8%, p=0.02). Respiratory and pancreatic function, and body mass index (BMI) showed a higher severity in G1 (G1 vs. G2: FEV1: 54.6±27.3 vs. 29.9±64.6%, p=0.177; pancreatic insufficiency 72.7 vs. 26.5%, p<0.001; BMI 20.2±3.4 vs. 22.2±4.8, p=0.018). Pseudomonas aeruginosa and methicillin-sensitive Staphylococcus aureus were the most frequently isolated microorganisms. Lung transplantation rate was higher in G2 (20.6 vs. 10.9%, p=0.231) while mortality rate was higher in G1 (0 vs. 3.6%, p=0.261). Hospital admission rate was higher in G1 as well as mortality rate. The results suggest that patients with CF diagnosed in childhood have characteristics that distinguish them from those diagnosed in adulthood, and these differences may have implications for diagnosis, prognosis and life expectancy. Copyright © 2016 Sociedade Portuguesa de Pneumologia. Published by Elsevier España, S.L.U. All rights reserved.

  4. Molecular identification and genotyping of Pseudomonas aeruginosa isolated from cystic fibrosis and non-cystic fibrosis patients with bronchiectasis.

    Science.gov (United States)

    Eusebio, Nadia; Amorim, Adelina A; Gamboa, Fernanda; Araujo, Ricardo

    2015-03-01

    There is no standard methodology for the molecular identification and genotyping of Pseudomonas aeruginosa which are frequently isolated in bronchiectasis patients. Hence, the main goal of this work was to propose a methodology capable to simultaneously identify and genotype, in less than 6 h, clinical P. aeruginosa collected from cystic fibrosis (CF) and non-CF patients with bronchiectasis. Molecular analyses were conducted in clinical isolates by testing the newly colony-PCR strategy and SNaPaer assay. A total of 207 isolates of P. aeruginosa were collected from clinical samples. To assess the assay specificity, other Gram-negative non-aeruginosa bacteria, namely Pseudomonas and Burkholderia, were tested. The complete group of 23 markers included in the SNaPaer panel was observed exclusively in P. aeruginosa; more than 18 markers failed in other bacteria. A total of 43 SnaP profiles were obtained for clinical P. aeruginosa, being the profiles highly patient-specific. Six CF patients were colonized with P. aeruginosa isolates with very distinct SnaP profiles, particularly following adjustments on antibiotic therapy, thus suggesting changes on the dynamics and dominance of these bacteria. SnaPaer proved to be a good and reliable tool for identification and genotyping of clinical P. aeruginosa in a single-tube multiplex PCR. Combined with the proposed colony-PCR strategy, SnaPaer assay facilitates the molecular analysis of P. aeruginosa. © FEMS 2014. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  5. Pharmacokinetics of azithromycin in plasma, blood, polymorphonuclear neutrophils and sputum during long-term therapy in patients with cystic fibrosis

    NARCIS (Netherlands)

    Wilms, E B; Touw, D J; Heijerman, H G M

    Chronic therapy with the macrolide antibiotic azithromycin (AZM) is widely practiced in the treatment of patients with cystic fibrosis (CF) and chronic lung infection with Pseudomonas aeruginosa. Azithromycin dosage is variable, based on published studies, and not supported by pharmacokinetic data.

  6. Clinical effects of sinus surgery and adjuvant therapy in cystic fibrosis patients - can chronic lung infections be postponed?

    DEFF Research Database (Denmark)

    Aanaes, K; Johansen, H K; Skov, M

    2013-01-01

    The paranasal sinuses can be a bacterial reservoir for pulmonary infections in patients with cystic fibrosis (CF) METHODOLOGY: In this prospective, non-randomised, uncontrolled, intervention cohort study, the clinical effect of sinus surgery followed by two weeks` intravenous antibiotics, 6 months...

  7. Exhaled breath analysis using electronic nose in cystic fibrosis and primary ciliary dyskinesia patients with chronic pulmonary infections.

    Directory of Open Access Journals (Sweden)

    Odin Joensen

    Full Text Available The current diagnostic work-up and monitoring of pulmonary infections may be perceived as invasive, is time consuming and expensive. In this explorative study, we investigated whether or not a non-invasive exhaled breath analysis using an electronic nose would discriminate between cystic fibrosis (CF and primary ciliary dyskinesia (PCD with or without various well characterized chronic pulmonary infections. We recruited 64 patients with CF and 21 with PCD based on known chronic infection status. 21 healthy volunteers served as controls. An electronic nose was employed to analyze exhaled breath samples. Principal component reduction and discriminant analysis were used to construct internally cross-validated receiver operator characteristic (ROC curves. Breath profiles of CF and PCD patients differed significantly from healthy controls p = 0.001 and p = 0.005, respectively. Profiles of CF patients having a chronic P. aeruginosa infection differed significantly from to non-chronically infected CF patients p = 0.044. We confirmed the previously established discriminative power of exhaled breath analysis in separation between healthy subjects and patients with CF or PCD. Furthermore, this method significantly discriminates CF patients suffering from a chronic pulmonary P. aeruginosa (PA infection from CF patients without a chronic pulmonary infection. Further studies are needed for verification and to investigate the role of electronic nose technology in the very early diagnostic workup of pulmonary infections before the establishment of a chronic infection.

  8. Learning about Cystic Fibrosis

    Science.gov (United States)

    ... What do we know about heredity and cystic fibrosis? Cystic fibrosis (CF) is the most common, fatal genetic ... FAQ Top of page Additional Resources for Cystic Fibrosis Information Cystic Fibrosis [ghr.nlm.nih.gov] Summary FAQ from ...

  9. Inhalable Antimicrobials for Treatment of Bacterial Biofilm-Associated Sinusitis in Cystic Fibrosis Patients

    DEFF Research Database (Denmark)

    Klodzinska, Sylvia Natalie; Priemel, Petra Alexandra; Rades, Thomas

    2016-01-01

    Bacterial biofilm-associated chronic sinusitis in cystic fibrosis (CF) patients caused by Pseudomonas aeruginosa infections and the lack of available treatments for such infections constitute a critical aspect of CF disease management. Currently, inhalation therapies to combat P. aeruginosa...... infections in CF patients are focused mainly on the delivery of antimicrobials to the lower respiratory tract, disregarding the sinuses. However, the sinuses constitute a reservoir for P. aeruginosa growth, leading to re-infection of the lungs, even after clearing an initial lung infection. Eradication of P....... aeruginosa from the respiratory tract after a first infection has been shown to delay chronic pulmonary infection with the bacteria for up to two years. The challenges with providing a suitable treatment for bacterial sinusitis include: (i) identifying a suitable antimicrobial compound; (ii) selecting...

  10. Efflux unbalance in Pseudomonas aeruginosa isolates from cystic fibrosis patients.

    Science.gov (United States)

    Vettoretti, Lucie; Plésiat, Patrick; Muller, Cédric; El Garch, Farid; Phan, Gilles; Attrée, Inna; Ducruix, Arnaud; Llanes, Catherine

    2009-05-01

    Retrospective analysis of 189 nonredundant strains of Pseudomonas aeruginosa sequentially recovered from the sputum samples of 46 cystic fibrosis (CF) patients over a 10-year period (1998 to 2007) revealed that 53 out of 189 (28%) samples were hypersusceptible to the beta-lactam antibiotic ticarcillin (MIC efflux system MexXY was responsible for various degrees of resistance to aminoglycosides in a selection of 11 genotypically distinct strains (gentamicin MICs from 2 to 64 microg/ml). By demonstrating for the first time that the MexXY pump may evolve in CF strains, we found that a mutation leading to an F1018L change in the resistance-nodulation-cell division (RND) transporter MexY was able to increase pump-promoted resistance to aminoglycosides, cefepime, and fluoroquinolones twofold. The inactivation of the mexB gene (which codes for the RND transporter MexB) in the 11 selected strains showed that the Tic(hs) phenotype was due to a mutational or functional loss of function of MexAB-OprM, the multidrug efflux system known to contribute to the natural resistance of P. aeruginosa to beta-lactams (e.g., ticarcillin and aztreonam), fluoroquinolones, tetracycline, and novobiocin. Two of the selected strains synthesized abnormally low amounts of the MexB protein, and 3 of 11 strains expressed truncated MexB (n = 2) or MexA (n = 1) polypeptide as a result of mutations in the corresponding genes, while 7 of 11 strains produced wild-type though nonfunctional MexAB-OprM pumps at levels similar to or even higher than that of reference strain PAO1. Overall, our data indicate that while MexXY is necessary for P. aeruginosa to adapt to the hostile environment of the CF lung, the MexAB-OprM pump is dispensable and tends to be lost or inactivated in subpopulations of P. aeruginosa.

  11. Cystic fibrosis – Comparison between patients in paediatric and adult age

    Directory of Open Access Journals (Sweden)

    V. Santos

    2017-01-01

    Full Text Available Cystic fibrosis (CF is the most common autosomal recessive disease in Caucasians. Although most cases are diagnosed in childhood, diagnosis in adults is apparently increasing. Objective: Evaluate the adult population with CF, comparing patients who were diagnosed before and after 18 years of age. Methods: Retrospective analysis of patients followed in three main medical centres in Portugal in 2012. Comparison of two groups: G1 – patients diagnosed at <18 years and G2 – patients diagnosed at ≥18 years. Results: 89 adults were identified: 61.8% in G1, 38.2% in G2. Gender distribution was similar in both groups. Average age in G2 was higher (38.3 ± 8.4 vs. 26.8 ± 6.1 years, p < 0.001. Respiratory symptoms most frequently led to CF diagnosis in all patients, mainly in adulthood. There was a greater percentage of patients homozygous for the mutation delF508 in G1 (43.6 vs. 8.8%, p = 0.02. Respiratory and pancreatic function, and body mass index (BMI showed a higher severity in G1 (G1 vs. G2: FEV1: 54.6 ± 27.3 vs. 29.9 ± 64.6%, p = 0.177; pancreatic insufficiency 72.7 vs. 26.5%, p < 0.001; BMI 20.2 ± 3.4 vs. 22.2 ± 4.8, p = 0.018. Pseudomonas aeruginosa and methicillin-sensitive Staphylococcus aureus were the most frequently isolated microorganisms. Lung transplantation rate was higher in G2 (20.6 vs. 10.9%, p = 0.231 while mortality rate was higher in G1 (0 vs. 3.6%, p = 0.261. Hospital admission rate was higher in G1 as well as mortality rate. Conclusion: The results suggest that patients with CF diagnosed in childhood have characteristics that distinguish them from those diagnosed in adulthood, and these differences may have implications for diagnosis, prognosis and life expectancy. Keywords: Cystic fibrosis, Cystic fibrosis diagnosis, Cystic fibrosis in childhood, Cystic fibrosis adult, Cystic fibrosis late diagnosis

  12. Factors affecting nebulised medicine adherence in adult patients with cystic fibrosis: a qualitative study.

    Science.gov (United States)

    Hogan, Alice; Bonney, Mary-Ann; Brien, Jo-Anne; Karamy, Rita; Aslani, Parisa

    2015-02-01

    Nebulised medicines contribute to the high treatment burden experienced by patients with cystic fibrosis (CF). This study explored experiences of adult patients with CF when using nebulised medicines, factors impacting on their adherence to nebulised therapy and strategies they used to facilitate adherence. Community setting, in Sydney, Australia. Ten patients with CF were recruited through a CF patient organisation. Semi-structured face-to-face interviews were conducted, addressing the study objectives. Interviews were audio-recorded, transcribed verbatim and content analysed for anticipated and emergent themes. Experiences with using nebulised medicines; and barriers and facilitators of adherence to nebulised medicines. Participants' age ranged from 22 to 45 years, with half being male. Four broad themes (with more specific sub-themes) were identified from the interviews: experiences with using nebulised medicines (cleaning nebuliser, time taken to use nebuliser medicine, flexibility in use of nebuliser); feelings about using nebulised medicines (necessary/important, dislike, part of life); factors impacting non-adherence (time consuming therapy, side effects/effects of medicine, work/social demands, lack of perceived importance); factors and strategies facilitating adherence (perceived medicine importance, habit/routine, support, health benefits, technology/medicine dose form, timetabling). Nebulised therapy for cystic fibrosis patients takes a substantial amount of time, with patients trying to alter their routine to incorporate nebulising into their daily lives. However there are still many factors that lead to low adherence, including work/social demands and travelling. Patients balance the necessity for nebulised therapy against the barriers, and engage in intentional non-adherence at times. Future strategies and resources should target and address specific factors identified by patients with CF as being important and impacting their adherence to nebulised

  13. [Structured care in an ISO certified centre for patients with cystic fibrosis and their families].

    Science.gov (United States)

    Ellemunter, H; Eder, J; Steinkamp, G

    2011-10-01

    Cystic fibrosis (CF) is a chronic, life-shortening disease of multiple organ systems. Guidelines recommend that patients should be treated in specialised CF centres with multi-professional teams. We describe the organisation of medical care at the CF centre of Innsbruck University as well as results of treatment. Procedures and delivery of multi-professional care have been elaborated and structured. Since 2006 the Centre has been repeatedly certified according to DIN ISO 9001:2000. The patient database is being used during the doctor's consultation and for the continuous monitoring of treatment results. In 2010, 71 of the 148 patients (48%) were between 18 and 56 years old. The total number of patients has doubled and the proportion of adults tripled since 1995. Nevertheless, median FEV1 remained stable (>80% of predicted) during the last 15 years. Compared with 18 CF centres of the German Benchmarking Group, patients treated in Innsbruck had favourable FEV1 values: 52% of adults had a normal FEV1 (>80% pred.) and only 23% an FEV1 <50% of predicted. A structured programme of multi-professional care was associated with favourable treatment results, both longitudinally and in comparison to other CF centres. © Georg Thieme Verlag KG Stuttgart · New York.

  14. High resolution computed tomography of the chest in cystic fibrosis (CF): is simplification of scoring systems feasible?

    Energy Technology Data Exchange (ETDEWEB)

    Oikonomou, Anastasia; Prassopoulos, Panos [University Hospital of Alexandroupolis, Democritus University of Thrace, Department of Radiology, Dragana, Alexandroupolis (Greece); Tsanakas, John; Hatziagorou, Elpis; Kirvassilis, Fotios [Ippokratio Hospital of Thessaloniki, Aristotle University of Thessaloniki, 3d Department of Pediatrics, Thessaloniki (Greece); Efremidis, Stavros [University Hospital of Ioannina, University of Ioannina, Department of Radiology, Ioannina (Greece)

    2008-03-15

    The purpose of this study was to simplify HRCT scoring systems (SS) for CF by selecting representative HRCT parameters. Forty-two consecutive patients with CF underwent baseline and follow-up chest HRCT. Three radiologists evaluated 84 HRCTs employing five SS. ''Simplified'' HRCT SS were formed by selection of parameters exhibiting statistically significant relations with FEV1. Pulmonary function tests (PFTs) and nutrition (IBW%) were recorded. Regression analysis, Pearson correlation and T-test were used for statistical analysis. Three HRCT parameters were selected for the formation of ''simplified'' HRCT SS (severity of bronchiectasis, bronchial wall thickening, atelectasis-consolidation) using regression analysis. There was excellent correlation between each ''simplified'' and corresponding complete score (0.892 < r < 0.0967, p < 0.0001) or the remaining four complete scores (0.786 < r < 0.961, p < 0.0001). Strong correlation was found among the five ''simplified'' scores (0.803 < r < 0.997, p < 0.0001). Comparing baseline complete and ''simplified'' scores with corresponding follow-up ones, significant worsening was observed (p < 0.0001). PFTs and IBW% did not change significantly. HRCT scores correlated moderately with FVC and FEV1, but there was no correlation with FEF25-75 and IBW%. ''Simplified'' HRCT SS are as reliable as the complete ones and detect progression of lung disease earlier than clinical parameters. They are easy to use and could be adopted in clinical practice. (orig.)

  15. Retinal screening of patients with cystic fibrosis-related diabetes in Wales -- a real eye opener.

    Science.gov (United States)

    Roberts, R; Speight, L; Lee, J; George, L; Ketchell, R I; Lau, D; Duckers, J

    2015-03-01

    The National Screening Committee recommends annual retinal screening for all diabetic patients over the age of twelve years. Currently, patients on insulin therapy for Cystic Fibrosis-Related Diabetes Mellitus (CFRD) at the All Wales Adult Cystic Fibrosis Service, UK are invited for annual screening. Age, sex, FEV(1)%, BMI, HbA1c, duration of diabetes, duration of insulin therapy, presence of retinopathy and attendance at retinal screening in 2012 were examined for patients on insulin therapy for CFRD. 67 of the 228 (29%) patients attending the CF centre were receiving insulin therapy. 24 of the 67 (36%) did not attend retinal screening in 2012. Of the 43 who had retinal scans, 18 (42%) had evidence of retinopathy. Patients with retinopathy had a higher mean HbA1c (p=0.04), mean duration of diabetes and mean duration on insulin (pscreened had evidence of retinopathy but over a third of the patients with CFRD did not attend screening appointments. Improving patient uptake of retinal scans will become increasingly important in an ageing CF population. Copyright © 2014 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  16. Pulmonary complications of cystic fibrosis

    International Nuclear Information System (INIS)

    Ng, M.Y.; Flight, W.; Smith, E.

    2014-01-01

    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. in pediAtriC CystiC FiBrosis pAtients

    Directory of Open Access Journals (Sweden)

    Zuzanna Gorski

    2016-12-01

    Full Text Available Introduction. Cystic fibrosis (CF is an autosomal recessive disease affecting the epithelial lining of the respiratory tract andexocrine glands (1-5. many children suffering from CF are often diagnosed and treated for various co-morbidities, includingchronic rhinosinusitis (Crs and nasal polyposis (np (3, 4, 6, 7, which will remain the focus of this article.Aim. the aim of this study was to examine the characteristic of patients with cystic fibrosis (CF admitted to the pediatricotolaryngology department due to coexisting chronic rhinosinusitis (Crs or nasal polyposis (np. the study focused on thedemographics, symptoms and management of children with CF with coexisting Crs and/or np. the data was then compared tothe results that had been presented in the literature.Material and methods. A retrospective study of 26 pediatric patients previously diagnosed with CF that were admitted to thedepartment of pediatric otolaryngology of the medical University of Warsaw between 2010 and 2015 was conducted. patients’medical histories were carefully reviewed. data on patients’ age, gender, symptoms and CF comorbidities were collected. thenumber and type of procedures performed on each patient were documented. Further assessment of the localization of polypswas performed in all np-positive patients.Results. the study included 26 patients (15 males and 11 females. mean age was 9 years. Crs and np was present in 100% and88.5% of the patients, respectively. 23 children underwent a total of 35 sinus surgeries due to Crs and/or np. 6 patients requiredone or more revision surgeries, with a total revision rate of 54.1%. Adenoidectomy (At and/or adenotonsillectomy (Att wasperformed in 10 patients. 5 children were disqualified from the surgery, due to various reasons. the most common localizationof np was maxillary sinus, followed by ethmoid sinus, sphenoid sinus, frontal sinus, and nasal cavity.Conclusions. due to a wide range of clinical findings in many organs

  18. Burkholderia cenocepacia Infections in Cystic Fibrosis Patients: Drug Resistance and Therapeutic Approaches

    Directory of Open Access Journals (Sweden)

    Viola C. Scoffone

    2017-08-01

    Full Text Available Burkholderia cenocepacia is an opportunistic pathogen particularly dangerous for cystic fibrosis (CF patients. It can cause a severe decline in CF lung function possibly developing into a life-threatening systemic infection known as cepacia syndrome. Antibiotic resistance and presence of numerous virulence determinants in the genome make B. cenocepacia extremely difficult to treat. Better understanding of its resistance profiles and mechanisms is crucial to improve management of these infections. Here, we present the clinical distribution of B. cenocepacia described in the last 6 years and methods for identification and classification of epidemic strains. We also detail new antibiotics, clinical trials, and alternative approaches reported in the literature in the last 5 years to tackle B. cenocepacia resistance issue. All together these findings point out the urgent need of new and alternative therapies to improve CF patients’ life expectancy.

  19. A polymicrobial perspective of pulmonary infections exposes an enigmatic pathogen in cystic fibrosis patients.

    Science.gov (United States)

    Sibley, Christopher D; Parkins, Michael D; Rabin, Harvey R; Duan, Kangmin; Norgaard, Jens C; Surette, Michael G

    2008-09-30

    Lung disease is the leading cause of morbidity and mortality in cystic fibrosis (CF) patients. A modest number of bacterial pathogens have been correlated with pulmonary function decline; however, microbiological and molecular evidence suggests that CF airway infection is polymicrobial. To obtain a more complete assessment of the microbial community composition and dynamics, we undertook a longitudinal study by using culture-independent and microbiological approaches. In the process, we demonstrated that within complex and dynamic communities, the Streptococcus milleri group (SMG) can establish chronic pulmonary infections and at the onset of 39% of acute pulmonary exacerbations, SMG is the numerically dominant pathogen. We report the comprehensive polymicrobial community dynamics of a CF lung infection in a clinically relevant context. If a given organism, such as Pseudomonas aeruginosa, becomes resistant to antibiotic therapy, an alternative treatment avenue may mediate the desired clinical response by effectively managing the composition of the microbial community.

  20. Patient knowledge and pulmonary medication adherence in adult patients with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Lin AH

    2017-03-01

    Full Text Available Ann Hsu-An Lin,1 Jennifer G Kendrick,2,3 Pearce G Wilcox,4,5 Bradley S Quon4,51Faculty of Medicine, 2Faculty of Pharmaceutical Sciences, University of British Columbia, 3Department of Pharmacy, Children’s and Women’s Health Centre of British Columbia, 4Department of Medicine, Division of Respiratory Medicine, University of British Columbia, 5Centre for Heart Lung Innovation, St Paul’s Hospital, Vancouver, BC, CanadaBackground and objectives: Patient knowledge of lung function (ie, forced expiratory volume in 1 s [FEV1]% predicted and the intended benefits of their prescribed pulmonary medications might play an important role in medication adherence, but this relationship has not been examined previously in patients with cystic fibrosis (CF.Methods: All patients diagnosed with CF and without prior lung transplantation were invited to complete knowledge and self-reported medication adherence questionnaires during routine outpatient visits to the Adult CF Clinic, St Paul’s Hospital, Vancouver, Canada from June 2013 to August 2014.Results: A total of 142 out of 167 (85% consecutive adults attending CF clinic completed patient knowledge and medication adherence survey questionnaires. Sixty-four percent of the patients recalled their last FEV1% predicted value within 5%, and 70% knew the intended benefits of all their prescribed medications. Self-reported adherence rates were highest for inhaled antibiotics (81%, azithromycin (87%, and dornase alpha (76% and lowest for hypertonic saline (47%. Individuals who knew their FEV1% predicted value within 5% were more likely to self-report adherence to dornase alpha (84% vs 62%, P=0.06 and inhaled antibiotics (88% vs 64%, P=0.06 compared to those who did not, but these associations were not statistically significant. There were no significant associations observed between patient knowledge of intended medication benefits and self-reported medication adherence.Conclusion: Contrary to our hypothesis

  1. Altered Sputum Microstructure as a Marker of Airway Obstruction in Cystic Fibrosis Patients

    Science.gov (United States)

    Duncan, Gregg; Jung, James; West, Natalie; Boyle, Michael; Suk, Jung Soo; Hanes, Justin

    In the lungs of cystic fibrosis (CF) patients, highly viscoelastic mucus remains stagnant in the lung leading to obstructed airways prone to recurrent infections. Bulk-fluid rheological measurement is primarily used to assess the pathological features of mucus. However, this approach is limited in detecting microscopic properties on the length scale of pathogens and immune cells. We have shown in prior work based on the transport of muco-inert nanoparticles (MIP) in CF sputum that patients can carry significantly different microstructural properties. In this study, we aimed to determine the factors leading to variations between patients in sputum microstructure and their clinical implications. The microrheological properties of CF sputum were measured using multi-particle tracking experiments of MIP. MIP were made by grafting polyethylene glycol onto the surface of polystyrene nanoparticles which prior work has shown prevents adhesion to CF sputum. Biochemical analyses show that sputum microstructure was significantly altered by elevated mucin and DNA content. Reduction in sputum pore size is characteristic of patients with obstructed airways as indicated by measured pulmonary function tests. Our microstructural read-out may serve as a novel biomarker for CF.

  2. An atypical presentation of sinus mucopyocele in a pediatric cystic fibrosis patient

    Directory of Open Access Journals (Sweden)

    Horesh E

    2015-05-01

    Full Text Available Elan Horesh, Andrew A Colin, Roy Casiano, Sara T WesterBascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USAAbstract: This case report details an association of chronic allergic conjunctivitis and respiratory tract colonization in a cystic fibrosis (CF patient due to an ethmoidal mucocele infected with Escherichia coli. A 3-year-old CF patient presented for evaluation with complaints of chronic periocular erythema, conjunctival injection, and irritation for 2 years. He was treated for presumed allergic conjunctivitis with no improvement and continued to have overall worsening of symptoms on the right greater than the left eye in a waxing and waning pattern. On presentation to the Bascom Palmer Eye Institute, he was noted to have telecanthus and prominent erythema in the region of the medial canthus. Orbital imaging disclosed a mucocele in the right ethmoid sinus. The patient underwent functional endoscopic sinus surgery, with successful marsupialization of the ethmoidal mucocele, which was found on culture to be infected with E. coli. Post-operatively with continuous pulmonary care, the patient remains free of allergic conjunctivitis and E. coli colonization of the upper airway. This case highlights the importance of analyzing the adjacent sinus in patients with chronic, relapsing allergic conjunctivitis refractory to medical management, particularly in patients with underlying systemic diseases such as CF.Keywords: allergic conjuncitivitis, Escherichia Coli, cystic fibrosis, mucocele

  3. The emergence of multidrug-resistant Pseudomonas aeruginosa in cystic fibrosis patients on inhaled antibiotics

    Directory of Open Access Journals (Sweden)

    Atqah AbdulWahab

    2017-01-01

    Full Text Available Introduction: Multidrug-resistant Pseudomonas aeruginosa (MDR-PA is an important and growing issue in the care of patients with cystic fibrosis (CF, and a major cause of morbidity and mortality. Objective: The objective of the study was to describe the frequency of MDR-PA recovered from the lower respiratory samples of pediatric and adult CF patients, and its antibiotic resistance pattern to commonly used antimicrobial agents including β-lactams, aminoglycosides, and fluoroquinolones. Materials and Methods: The lower respiratory isolates of P. aeruginosa were obtained from inpatients and outpatients CF clinics from a tertiary care teaching hospital for the period from October 2014 to September 2015. The identification and antimicrobial susceptibility for all the isolates were performed by using the BD Phoenix™ and E-test in compliance with Clinical and Laboratory Standards Institute (CLSI guidelines. Results: A total of 61 P. aeruginosa samples were isolated from thirty CF patients from twenty families. Twelve sputum samples were positive for MDR-PA (seven nonmucoid and five mucoid isolates from five CF patients (five families with moderate-to-very severe lung disease given MDR-PA frequency of 19.7%. The median age of the study group was 20 (range 10–30 years. Three CF patients were on chronic inhaled tobramycin and two on nebulized colistin. The antimicrobial patterns of isolates MDR-PA showed the highest rate of resistance toward each gentamycin, amikacin, and cefepime (100%, followed by 91.7% to ciprofloxacin, 75% to tobramycin, 58.3% to meropenem, and 50% to piperacillin-tazobactam. None of the isolates were resistant to colistin during the study period. Conclusion: The study results emphasize that the emergence of a significant problem in the clinical isolates of P. aeruginosa in CF patients that dictate appropriate attention to the antibiotic management after proper surveillance.

  4. Do patient-reported outcomes (PROs have a role in the management of patients with cystic fibrosis?

    Directory of Open Access Journals (Sweden)

    Sam eSalek

    2012-03-01

    Full Text Available Background: Health-related quality of life (HRQoL is a rapidly growing area of expertise and the most commonly used patient-reported outcome (PRO. The impact of CF on HRQoL is liable to be great, making CF patients ideal candidates for the application of HRQoL instruments. The aims of this study were to assess the affect of CF on HRQoL, to ascertain the reliability and validity of the UKSIP and the CFQoL in the adult CF population, and to examine their role in the management of patients. Methods: Seventy participants were recruited from the All Wales Adult Cystic Fibrosis Centre at Llandough Hospital, UK. There were two stages to the study; self-report of the UKSIP and CFQoL in the first stage, and completion of the same two questionnaires seven to ten days later for the second stage. Results: The areas of HRQoL most impaired by CF were employment and concerns regarding the future. The UKSIP and CFQoL showed high internal consistency (rα=0.89-0.93 and test-retest reliability (rs=0.57-0.94, p<0.005 in the CF population. Validity was variable; with the UKSIP showing discrimination across socio-demographic factors, whilst the CFQoL showed increased sensitivity to clinical variables. Many parameters influenced patient-reported HRQoL, with the greatest correlations seen with the Borg score (p<0.005. The use of a HRQoL instrument in CF annual reviews is recommended to provide holistic patient care. The results of this study underpin the value of HRQoL as a patient-reported outcome measure in the management of adult CF.

  5. Pentraxin 3 Is a Predictor for Fibrosis and Arterial Stiffness in Patients with Nonalcoholic Fatty Liver Disease

    Directory of Open Access Journals (Sweden)

    Kadir Ozturk

    2016-01-01

    Full Text Available Objective. The aim of the present study was to investigate whether pentraxin 3 (PTX3 can be a new noninvasive marker for prediction of liver fibrosis in patients with NAFLD. We also aimed to evaluate the relationship between PTX3 and atherosclerosis in patients with NAFLD. Method. Fifty-four male patients with biopsy-proven NAFLD and 20 apparently healthy male volunteers were included. PTX3 levels were determined, using an ELISA method (R&D Sysytems, Quantikine ELISA, USA. To detect the presence of subclinical atherosclerosis in NAFLD, measurements of CIMT, FMD, and cf-PWV levels were performed. Results. PTX3 levels in NAFLD patients with fibrosis were higher than both NAFLD patients without fibrosis and controls (P=0.032 and P=0.028, respectively, but there was no difference between controls and NAFLD patients without fibrosis in terms of PTX3 levels (P=0.903. PTX3 levels were strongly correlated with cf-PWV (r=0.359, P=0.003, whereas no significant correlation was found with other atherosclerosis markers, CIMT and FMD. Conclusion. Elevated plasma PTX3 levels are associated with the presence of fibrosis in patients with NAFLD, independently of metabolic syndrome components. This study demonstrated that for the first time there is a close association between elevated PTX3 levels and increased arterial stiffness in patients with NAFLD.

  6. Distal intestinal obstruction syndrome (DIOS) in patients with cystic fibrosis after lung transplantation.

    Science.gov (United States)

    Morton, Jonathan R; Ansari, Nabila; Glanville, Allan R; Meagher, Alan P; Lord, Reginald V N

    2009-08-01

    Cystic fibrosis (CF) is the commonest inherited life-threatening disease in Caucasians. With increased longevity, more patients with CF are developing gastrointestinal complications including the distal intestinal obstruction syndrome (DIOS), in which ileocecal obstruction is caused by viscid mucofeculent material. The optimal management of DIOS is uncertain. The medical records of all patients with CF who underwent lung transplantation at this institution during a 15-year period were reviewed. The definition of DIOS required the presence of both clinical and radiological features of ileocecal obstruction. One hundred twenty-one patients with CF underwent lung transplantation during the study period. During a minimum 2-year follow-up, there were 17 episodes of DIOS in 13 (10.7%) patients. The development of DIOS was significantly associated with a past history of meconium ileus (odds ratio 20.7, 95% C.I. 5.09-83.9) or previous laparotomy (odds ratio 4.93, 95% C.I. 1.47-16.6). All six patients who developed DIOS during the transplantation admission had meconium ileus during infancy, and five had undergone pretransplant laparotomy for CF complications. First-line treatment for all patients was a combination of medication (laxatives, stool softeners, and bowel preparation formulas). This was successful in 14 of the 17 DIOS but needed to be given for up to 14 days. The other three patients required laparotomy with enterotomy and fecal disimpaction. This provided definitive resolution of DIOS except in one patient who presented late and died despite ileal decompression and ileostomy. DIOS occurred in approximately 10% of CF patients after lung transplantation. Patients with a history of meconium ileus or previous laparotomy are at high risk of developing DIOS. Patients with DIOS require early aggressive management with timely laparotomy with enterotomy and possible stoma formation when non-operative therapy is unsuccessful.

  7. 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...

  8. Meconium ileus in Cystic Fibrosis

    NARCIS (Netherlands)

    Sathe, Meghana; Houwen, Roderick

    2017-01-01

    Meconium ileus (MI) is often the first manifestation of cystic fibrosis (CF) and occurs in approximately 20% of patients diagnosed with CF. This article reviews the pathophysiology of MI and its clinical presentation. It focuses on the medical and surgical management emphasizing the importance of

  9. Oral glucose tolerance test and continuous glucose monitoring to assess diabetes development in cystic fibrosis patients.

    Science.gov (United States)

    Clemente León, María; Bilbao Gassó, Laura; Moreno-Galdó, Antonio; Campos Martorrell, Ariadna; Gartner Tizzano, Silvia; Yeste Fernández, Diego; Carrascosa Lezcano, Antonio

    2018-01-01

    Patients with cystic fibrosis (CF) undergo a slow and progressive process toward diabetes. Oral glucose tolerance test (OGTT) is recommended to diagnose impaired glucose levels in these patients. Continuous glucose monitoring (CGM) measures glucose profiles under real-life conditions. To compare OGTT and CGM results in CF patients. Paired OGTT and 6-day CGM profiles (146.2±9.1h/patient) were performed in 30 CF patients aged 10-18 years. According to OGTT, 14 patients had normal glucose tolerance (NGT), 14 abnormal glucose tolerance (AGT), and two cystic fibrosis-related diabetes (CFRD). In 27 patients (13 NGT, 13 AGT, 1 CFRD), CGM showed glucose values ranging from 140 to 200mg/dL during similar monitoring times (2%-14% with NGT, 1%-16.9% with AGT, and 3% with CFRD). Glucose peak levels ≥200mg/dL were seen in seven patients (3 NGT, 3 AGT, 1 CFRD). According to CGM, two patients had all glucose values under 140mg/dL (1 NGT, 1 AGT). Seventeen patients had glucose levels ranging from 140 to 200mg/dL (10 NGT, 6 AGT, 1 CFRD). Ten patients (3 NGT, 7 AGT) had glucose values ≥200mg/dL for ≤1% of the monitoring time and one (CFRD) for >1% of the monitoring time. OGTT results did not agree with those of the CGM. CGM allows for diagnosis of glucose changes not detected by OGTT. Such changes may contribute to optimize pre-diabetes management in CF patients. Copyright © 2017 SEEN y SED. Publicado por Elsevier España, S.L.U. All rights reserved.

  10. Antibiotic therapy against Pseudomonas aeruginosa in cystic fibrosis : a European consensus

    NARCIS (Netherlands)

    Döring, G; Conway, S P; Heijerman, H G; Hodson, M E; Høiby, N; Smyth, A; Touw, D J

    2000-01-01

    Cystic fibrosis (CF) is the most common lethal hereditary disorder with autosomal recessive heredity in caucasians. The majority of CF patients suffer from chronic respiratory infection with the opportunistic bacterial pathogen Pseudomonas aeruginosa. No consensus among clinicians has been reached

  11. Exhaled breath analysis using electronic nose in cystic fibrosis and primary ciliary dyskinesia patients with chronic pulmonary infections

    DEFF Research Database (Denmark)

    Joensen, Odin; Paff, Tamara; Haarman, Eric G

    2014-01-01

    (CF) and primary ciliary dyskinesia (PCD) with or without various well characterized chronic pulmonary infections. We recruited 64 patients with CF and 21 with PCD based on known chronic infection status. 21 healthy volunteers served as controls. An electronic nose was employed to analyze exhaled......, this method significantly discriminates CF patients suffering from a chronic pulmonary P. aeruginosa (PA) infection from CF patients without a chronic pulmonary infection. Further studies are needed for verification and to investigate the role of electronic nose technology in the very early diagnostic workup......The current diagnostic work-up and monitoring of pulmonary infections may be perceived as invasive, is time consuming and expensive. In this explorative study, we investigated whether or not a non-invasive exhaled breath analysis using an electronic nose would discriminate between cystic fibrosis...

  12. CF Mutation Panel

    Science.gov (United States)

    ... ama/pub/category/9181.html. Accessed January 2009. Human Genome Project Information. Genetic Disease Profile: Cystic Fibrosis. Available online at http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/cf.shtml. Accessed January 2009. (November ...

  13. Economic impact of tobramycin in patients with cystic fibrosis in a managed care population.

    Science.gov (United States)

    Wertz, Debra A; Chang, Chun-Lan; Stephenson, Judith J; Zhang, Jie; Kuhn, Robert J

    2011-01-01

    Guidelines recommend chronic use of tobramycin solution for inhalation (TSI) for cystic fibrosis (CF) patients with moderate-to-severe lung disease and persistent airway Pseudomonas aeruginosa. This study evaluated the economic impact of TSI in managed care CF patients. Patients (0-64 years) with ≥2 CF medical claims between 01/01/04-03/31/09 were identified. For TSI users, the index date was the first TSI claim in the period; for non-users, a pseudo-index date was determined and randomly assigned by simulating the distribution of index dates of TSI users. Maximum sample size was obtained for patients with ≥3 months pre- and ≥12 months post-index eligibility. Users were categorized by number of TSI prescriptions filled during 12-month post-index period as low (1 fill), medium (2-3 fills) and high adherence (≥4 fills). Differences in per member per month (PMPM) costs pre-index to post-index were analyzed using paired t-tests. A total of 388 TSI users (mean age 19 years, 48% female) and 444 non-users (mean age 30 years, 54% female) met study criteria. In users, total and CF-related PMPM costs decreased $959 (17%) and $113 (3%), respectively, after starting TSI. Among TSI users, CF-related inpatient PMPM costs decreased by $1171 (49%; p=0.01), while CF-related prescription PMPM costs increased by $992 (pTSI users and non-users. All-cause and CF-related PMPM medical costs significantly decreased after TSI initiation. Among TSI users, total healthcare costs decreased, although not significantly, due to PMPM increases in prescription costs. A trend towards greater decrease in inpatient PMPM costs was observed with increasing TSI adherence.

  14. Calprotectin in cystic fibrosis.

    Science.gov (United States)

    Rumman, Nisreen; Sultan, Mutaz; El-Chammas, Khalil; Goh, Vi; Salzman, Nita; Quintero, Diana; Werlin, Steven

    2014-05-29

    There is increasing evidence that intestinal inflammation plays a major role in gastrointestinal symptoms in cystic fibrosis (CF). Fecal calprotectin is a marker that is elevated in several gastrointestinal inflammatory diseases, but little is known about its value in CF. We aimed to look for associations of elevated fecal calprotectin among CF patients and whether its level correlates with the clinical manifestations of CF. A single stool specimen was collected from 62 patients with CF. Fecal calprotectin was measured using the commercially available ELISA kits (PhiCal™ test). Clinical data were collected from patients' records and CF registry. There were no significant differences between CF patients with normal and abnormal fecal calprotectin levels. However, patients who were not receiving inhaled antibiotics had higher fecal calprotectin levels than those who were. Elevated fecal calprotectin may not accurately predict intestinal inflammation in CF. However, the fact that it was elevated in both pancreatic sufficient and insufficient groups supports the concept of "cystic fibrosis enteropathy" regardless of the pancreatic status.

  15. The microorganisms in chronically infected end-stage and non-end-stage cystic fibrosis patients

    DEFF Research Database (Denmark)

    Rudkjøbing, Vibeke B; Thomsen, Trine R; Alhede, Morten

    2011-01-01

    Patients suffering from cystic fibrosis (CF) develop chronic lung infections because of highly viscous mucus, where bacteria can form biofilms. In this study, we investigated the microorganisms present in the lungs of end-stage and non-end-stage patients using standard culturing techniques......RNA gene analysis (J Clin Microbiol 2011, 49: 4352). Conversely, the non-end-stage patients were found to harbor several species by culturing. PNA FISH confirmed heterogeneous microbiota and showed that the bacteria were located in monospecies aggregates with no apparent physical interaction between...

  16. 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.

  17. Comparison of in Vitro Activity of Doripenem versus Old Carbapenems against Pseudomonas Aeruginosa Clinical Isolates from both CF and Burn Patients

    Directory of Open Access Journals (Sweden)

    Reza Bigverdi

    2013-02-01

    Full Text Available Purpose: The antimicrobial activity of doripenem in comparison of imipenem, meropenem and ertapenem among Pseudomonas aeruginosa isolated from burn and Cystic Fibrosis (CF patients were determined. Methods: Metallo-β-lactamase (MBL genes in imipenem non susceptible P. aeruginosa isolates were detected using PCR method. The in vitro susceptibilities of doripenem, imipenem, meropenem and ertapenem were determined by Etests. MIC50 and MIC90 for corresponding antibiotics were determined individually in burn and CF isolates. Results: Among isolates which were resistant to imipenem, 16 isolates were positive for the bla IMP gene. All isolates had no bla VIM gene. All MBL producing isolates were excluded. MIC50/MIC90 of doripenem in CF and burn isolates were 0.75/>32 and >32/>32 mg/L respectively. The corresponding values for imipenem in CF and burn isolates were 2/>32 and >32/>32 mg/L, respectively. Conclusion: The susceptibility rate of doripenem is higher than that of imipenem and meropenem among P.aeruginosa isolated from CF patients, whereas, there is no difference between the efficiency of doripenem and old carbapenems in non MBL producing P.aeruginosa isolates in burn patients.

  18. Genomic variation among contemporary Pseudomonas aeruginosa isolates from chronically infected cystic fibrosis patients.

    Science.gov (United States)

    Chung, Jade C S; Becq, Jennifer; Fraser, Louise; Schulz-Trieglaff, Ole; Bond, Nicholas J; Foweraker, Juliet; Bruce, Kenneth D; Smith, Geoffrey P; Welch, Martin

    2012-09-01

    The airways of individuals with cystic fibrosis (CF) often become chronically infected with unique strains of the opportunistic pathogen Pseudomonas aeruginosa. Several lines of evidence suggest that the infecting P. aeruginosa lineage diversifies in the CF lung niche, yet so far this contemporary diversity has not been investigated at a genomic level. In this work, we sequenced the genomes of pairs of randomly selected contemporary isolates sampled from the expectorated sputum of three chronically infected adult CF patients. Each patient was infected by a distinct strain of P. aeruginosa. Single nucleotide polymorphisms (SNPs) and insertions/deletions (indels) were identified in the DNA common to the paired isolates from different patients. The paired isolates from one patient differed due to just 1 SNP and 8 indels. The paired isolates from a second patient differed due to 54 SNPs and 38 indels. The pair of isolates from the third patient both contained a mutS mutation, which conferred a hypermutator phenotype; these isolates cumulatively differed due to 344 SNPs and 93 indels. In two of the pairs of isolates, a different accessory genome composition, specifically integrated prophage, was identified in one but not the other isolate of each pair. We conclude that contemporary isolates from a single sputum sample can differ at the SNP, indel, and accessory genome levels and that the cross-sectional genomic variation among coeval pairs of P. aeruginosa CF isolates can be comparable to the variation previously reported to differentiate between paired longitudinally sampled isolates.

  19. Characterization of Streptococcus milleri group isolates from expectorated sputum of adult patients with cystic fibrosis.

    Science.gov (United States)

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

    2010-02-01

    With the recent insights into the Streptococcus milleri group (SMG) as pulmonary pathogens in patients with cystic fibrosis (CF), we sought to characterize 128 isolates from the sputum of adults with CF, along with 45 isolates from patients with invasive diseases for comparison. The tests performed included Lancefield grouping; tests for hemolysis; tests for the production of hyaluronidase, chondroitin sulfatase, DNase, proteases, and hydrogen peroxide; and PCR for the detection of the intermedilysin gene (ily). We also generated biochemical profiles with the Rapid ID Strep 32 API system and tested cell-free supernatants for the presence of the signal molecule autoinducer-2 (AI-2) using a Vibrio harveyi bioassay with a subset of CF strains. The S. intermedius isolates from both strain collections were similar, while the S. constellatus and S. anginosus isolates yielded several biotypes that differed in prevalence between the two strain collections. Beta-hemolytic, Lancefield group C S. constellatus comprised 74.4% of the S. constellatus isolates from patients with CF but only 13.3% of the corresponding isolates from patients with invasive infections. This was the only S. constellatus biotype associated with pulmonary exacerbations. Hyaluronidase-positive S. anginosus was detected only among the isolates from patients with CF. Strain-to-strain variability in AI-2 expression was evident, with the mean values being the highest for S. anginosus, followed by S. constellatus and then S. intermedius. Cluster analysis and 16S rRNA sequencing revealed that the species of SMG could be accurately determined with a minimum of three phenotypic tests: tests for the Lancefield group, hyaluronidase production, and chondroitin sulfatase production. Furthermore, isolates from patients with invasive infections clustered with isolates from the sputum of patients with CF, suggesting that the respiratory tract isolates were equally pathogenic.

  20. Aquagenic Wrinkling of the Palms in Patients with Cystic Fibrosis

    DEFF Research Database (Denmark)

    Kaiser, H; Brustad, N; Pressler, T

    2018-01-01

    Aquagenic wrinkling of the palms (AWP) is a condition characterized by oedema, confluent white papules and excessive wrinkling of the palms after few minutes exposure to water. The phenomenon may be associated with pain, numbness and pruritus1,2. It was first noticed and described in 1974 in chil...... in children with cystic fibrosis (CF) by a paediatrician R.B. Elliott3. This article is protected by copyright. All rights reserved....

  1. Occurrence and relevance of filamentous fungi in respiratory secretions of patients with cystic fibrosis--a review.

    Science.gov (United States)

    Pihet, Marc; Carrere, Jacqueline; Cimon, Bernard; Chabasse, Dominique; Delhaes, Laurence; Symoens, Françoise; Bouchara, Jean-Philippe

    2009-06-01

    The colonization of airways by filamentous fungi and the development of respiratory infections require some predisposing factors as encountered in patients with cystic fibrosis (CF). Indeed, the defective mucociliary clearance which characterizes the disease is associated with local immunological disorders. In addition, the prolonged therapy with antibiotics and the use of corticosteroid treatments also facilitate fungal growth. An important fungal biota has been described in respiratory secretions of patients suffering from CF. Aspergillus fumigatus, Scedosporium apiospermum and Aspergillus terreus for filamentous fungi and Candida albicans for yeasts are the main fungal species associated with CF. Although less common, several fungal species including Aspergillus flavus and Aspergillus nidulans may be isolated transiently from CF respiratory secretions, while others such as Exophiala dermatitidis and Scedosporium prolificans may chronically colonize the airways. Moreover, some of them like Penicillium emersonii and Acrophialophora fusispora are encountered in humans almost exclusively in the context of CF. As fungal complications in CF patients are essentially caused by filamentous fungi the present review will not include works related to yeasts. In CF patients, fungi may sometimes be responsible for deterioration of lung function, as occurs in allergic broncho-pulmonary aspergillosis (ABPA) which is the most common fungal disease in this context. Additionally, although the clinical relevance of the fungal airway colonization is still a matter of debate, filamentous fungi may contribute to the local inflammatory response, and therefore to the progressive deterioration of the lung function.

  2. Muscular strength after different types of training in physically active patients with cystic fibrosis

    DEFF Research Database (Denmark)

    Sahlberg, M.; Svantesson, U.; Magnusson, Thomas E.

    2008-01-01

    Physical training is important in the treatment of patients with cystic fibrosis (CF). Optimal types of training and intensity are unknown. The aim of the study was to evaluate the effect on muscular strength after 6 months of endurance training (ET) and/or resistance training (RT). Twenty patients...... the program. By ET, quadriceps strength was further decreased and after 6 months quadriceps isometric strength was also decreased in females. There was a tendency toward different effects on the serum levels of IL-6 and vitamin E by the different types of training. CF patients showed no improvements...... in muscular strength after 6 months of controlled training, suggesting a physiological muscular impairment despite normal anthropometry, but associated with lung function Udgivelsesdato: 2008/12...

  3. [Frequency of delta F508 mutation in Venezuelan patients with cystic fibrosis].

    Science.gov (United States)

    Morales-Machin, Alisandra; Borjas-Fajardo, Lisbeth; Pineda, Lennie; González, Sandra; Delgado, Wilmer; Zabala, Wiliam; Fernández, Erika

    2004-06-01

    Cystic Fibrosis (CF) is the most common and severe autosomal recessive disease in Caucasian populations, with an incidence of 1 in 2500 live births. It is characterized by a generalized disturbance in exocrine glands and it is caused by over one thousand mutations at the cystic fibrosis conductance regulator gene (CFTR) mapped at 7q31. AF508 is the most frequent mutation worldwide and it consists in a deletion of the codon that encodes fenilalanine at the 508 protein's position. The aim of this study was to determine the frequency of the delta F508 mutation in Venezuelan patients with CF using the Polymerase Chain Reaction (PCR). We studied thirty patients of twenty eight families who were diagnosed with CF based on their clinical features and sweat chloride level > 60 mEq/l in two determinations. Detection of the mutation was performed from the amplification of a 98 pair of bases (pb) CF gene segment which contains the codon that encodes fenilalanine in the 508 position by PCR. This PCR product is absent in those who have the mutation. The delta F508 allelic frequency was 26.79%, distributed in six homozygous and seven compound heterozygote delta F508/X. The reminder mutations (no delta F508) represent 73.21%. The delta F508 frequency in our sample is less than the reported in European countries. On the other hand, a delta F508 frequency highly heterogeneous has been observed in Latin-American countries. This variation results from mixed populations with a different genetic background influenced by external migration and CF molecular alterations, which exists in the analyzed populations. In this study, the delta F508 mutation comes mainly from grandparents (79.41%) who were born in Mediterranean countries and Colombia, while the no delta F508 mutations come from grandparents who were born in Venezuela (79.27%) and Colombia (17.07%).

  4. Complications of long and intermediate term venous catheters in cystic fibrosis patients: A multicenter study.

    Science.gov (United States)

    May, Teresa L; Gifford, Alex H; Lahiri, Thomas; Black, Adam; Trang, Janet; Cornell, Alexandra G; Gonzalez, Karyll; Morin, Scott; Napier, Mark; Duarte, Christine W; Zuckerman, Jonathan B

    2018-01-01

    Totally implantable venous access devices (TIVADs) or peripherally inserted central venous catheters (PICCs) are commonly used in the care of patients with cystic fibrosis (CF), but they are associated with various complications, including thrombosis, infection, and insertion site symptoms. We conducted a retrospective review of PICC and TIVAD use in adults and children with CF over an 8-year period at 3 accredited care centers. Patient attributes included CFTR genotype, comorbidities, lung function, body mass index, use of anticoagulation, and respiratory tract microbiology. Catheter data included line type, caliber, and lumen number. We assessed practice variation by surveying physicians. In a population of 592 CF patients, 851 PICC and 61 TIVADs were placed between January 1, 2003 and July 1, 2011. Larger catheter caliber and increased lumen number were risk factors for PICC complications in adults. Patient-related risk factors for PICC complications included poor nutritional status, infection with Burkholderia cepacia spp., and having ≥5 lines inserted during the study period. The probability of a PICC complication varied across centers (2.6% to 14.1%, p=0.001) and remained significant after adjustment for patient-and line-related risk factors. The median complication-free survival of TIVADs, however, did not vary significantly by center (p=0.85). This is the first longitudinal, multicenter assessment of complication rates for PICCs and TIVADs in a large cohort of adults and children with CF. Specific patient- and catheter-related characteristics were associated with increased risk of complications. Center effects on complication rates were observed for PICCs. Copyright © 2017 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  5. Long-term effects of azithromycin in patients with cystic fibrosis.

    Science.gov (United States)

    Samson, Clémentine; Tamalet, Aline; Thien, Hoang Vu; Taytard, Jessica; Perisson, Caroline; Nathan, Nadia; Clement, Annick; Boelle, Pierre-Yves; Corvol, Harriet

    2016-08-01

    Low-dose azithromycin has beneficial effects on severity of the lung disease in cystic fibrosis (CF) patients for a period of 6-12 months after initiation of the treatment. Although its impact in the longer term is uncertain, this treatment is frequently used chronically. The aim of this retrospective study was to investigate the effects of low-dose azithromycin treatment on the progression of CF lung disease in patients treated for more than 12 months. All of the CF patients followed in our pediatric center and who had been on low-dose azithromycin for more than 12 sequential months were included. The clinical data were collected for one year before and three years after the initiation of the azithromycin treatment. These data comprised lung function analyses, rates of exacerbations and of antibiotic courses, and changes in the airways' bacterial colonization. A total of 68 patients were included (mean age: 9.95 yrs (3.61)). After 12 months, significant reductions in the numbers of pulmonary exacerbations and antibiotic courses were present. However, this effect was not maintained in the subsequent periods, during which increased rates of both pulmonary exacerbations and antibiotic courses were observed. The lung function decline was not modified during the treatment, and a decreasing time-dependent trend typical of CF was observed for the various parameters. No differences in the airway colonization by pathogens such as Pseudomonas aeruginosa and methicillin-sensitive and/or -resistant Staphyloccocus aureus were observed during the treatment. However, isolated Staphyloccocus aureus strains became resistant to macrolides after 6 months of azithromycin and remained resistant thereafter. No clinical benefits of low-doses azithromycin were present after one year of treatment in young CF patients. Selection for macrolide-resistant strains of bacteria occurred, which should lead to a reconsideration of the duration of azithromycin treatment in CF. Copyright © 2016

  6. Evidence for the efficacy of aztreonam for inhalation solution in the management of Pseudomonas aeruginosa in patients with cystic fibrosis

    DEFF Research Database (Denmark)

    Hansen, Christine; Skov, Marianne

    2015-01-01

    Chronic airway infection in cystic fibrosis (CF) is a main cause of the increased morbidity and mortality found with this disease. The most common cause of Gram-negative infection is Pseudomonas aeruginosa. The introduction of inhaled antibiotics has changed the lives of affected patients and the...... for 'inhaled aztreonam' and 'cystic fibrosis'. Inhaled aztreonam is an important new treatment option for chronic P. aeruginosa infection in CF. Long-term studies have shown that the drug is safe and superior to inhaled tobramycin in these specific infections.......Chronic airway infection in cystic fibrosis (CF) is a main cause of the increased morbidity and mortality found with this disease. The most common cause of Gram-negative infection is Pseudomonas aeruginosa. The introduction of inhaled antibiotics has changed the lives of affected patients...... and the clinical outcome of this infection; this article focuses on the use of inhaled antibiotics in chronic P. aeruginosa infection in CF, and specifically on studies including the use of inhaled aztreonam lysine in P. aeruginosa infection. Studies were identified using PubMed and ClinicalTrials.gov, searching...

  7. Single-cell high resolution melting analysis: A novel, generic, pre-implantation genetic diagnosis (PGD) method applied to cystic fibrosis (HRMA CF-PGD).

    Science.gov (United States)

    Destouni, A; Poulou, M; Kakourou, G; Vrettou, C; Tzetis, M; Traeger-Synodinos, J; Kitsiou-Tzeli, S

    2016-03-01

    Institutions offering CF-PGD face the challenge of developing and optimizing single cell genotyping protocols that should cover for the extremely heterogeneous CF mutation spectrum. Here we report the development and successful clinical application of a generic CF-PGD protocol to facilitate direct detection of any CFTR nucleotide variation(s) by HRMA and simultaneous confirmation of diagnosis through haplotype analysis. A multiplex PCR was optimized supporting co-amplification of any CFTR exon-region, along with 6 closely linked STRs. Single cell genotypes were established through HRM analysis following melting of the 2nd round PCR products and were confirmed by STR haplotype analysis of the 1st PCR products. The protocol was validated pre-clinically, by testing 208 single lymphocytes, isolated from whole blood samples from 4 validation family trios. Fifteen PGD cycles were performed and 103 embryos were biopsied. In 15 clinical PGD cycles, genotypes were achieved in 88/93 (94.6%) embryo biopsy samples, of which 57/88 (64.8%) were deemed genetically suitable for embryo transfer. Amplification failed at all loci for 10/103 blastomeres biopsied from poor quality embryos. Six clinical pregnancies were achieved (2 twin, 4 singletons). PGD genotypes were confirmed following conventional amniocentesis or chorionic villus sampling in all achieved pregnancies. The single cell HRMA CF-PGD protocol described herein is a flexible, generic, low cost and robust genotyping method, which facilitates the analysis of any CFTR genotype combination. Single-cell HRMA can be beneficial to other clinical settings, for example the detection of single nucleotide variants in single cells derived from clinical tumor samples. Copyright © 2015 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  8. 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.

  9. Emphysema Is Common in Lungs of Cystic Fibrosis Lung Transplantation Patients : A Histopathological and Computed Tomography Study

    NARCIS (Netherlands)

    Mets, Onno M.; Roothaan, Suzan M.; Bronsveld, Inez; Luijk, Bart; van de Graaf, Ed A.; Vink, Aryan; de Jong, Pim A.

    2015-01-01

    Background Lung disease in cystic fibrosis (CF) involves excessive inflammation, repetitive infections and development of bronchiectasis. Recently, literature on emphysema in CF has emerged, which might become an increasingly important disease component due to the increased life expectancy. The

  10. Time invested in the global respiratory care of cystic fibrosis paediatrics patients.

    Science.gov (United States)

    Hafen, Gaudenz M; Kernen, Yann; De Halleux, Quentin M

    2013-10-01

    Respiratory therapy is a keystone of the treatment for cystic fibrosis (CF) lung disease, but it is time consuming. We aimed to assess the total time spent on respiratory therapy, including chest physiotherapy (CPT) and physical activity (PA), as well as inhalation therapy (IT) and maintenance of materials (MM) to rationalise and optimise treatment. A cross-sectional prospective study in a paediatric CF cohort. A questionnaire was developed to look at the time spent on respiratory care over 3 months. Enrolled in this study are all CF patients aged from 6 to 16 years (the exclusion criterion was lung transplantation). Of the 40 enrolled patients, 22 participated (13 boys and 9 girls), with a mean age of 11 years. The patients spent approximately 19.46 h per week (standard deviation ± 7.53, 8.00-35.25 h) on therapy: CPT (30.58%), IT (15.11%), PA (50%) and MM (4.32%), without statistical significance between sexes. In our cohort, CF patients spent an average of nearly 20 h a week in respiratory therapy, within a wide range of between 8 h to almost 36 h a week. PA consumes almost half of the time. Physicians have to take into consideration the burden of the treatment, to optimise the therapy. © 2012 John Wiley & Sons Ltd.

  11. Body Weight and Body Mass Index in Patients with End-Stage Cystic Fibrosis Stabilize After the Start of Enteral Tube Feeding

    NARCIS (Netherlands)

    Kraaijeveld, FM; de Roos, N.M.; Belle-van Meerkerk, Gerdien; Teding van Berkhout, F; Heijerman, HGM; van de Graaf, EA

    2017-01-01

    Abstract BACKGROUND: Enteral tube feeding (ETF) is widely used in patients with cystic fibrosis (CF) and end-stage lung disease, but previous studies have been limited to investigating whether ETF improves outcomes in patients with moderately or mildly impaired pulmonary function. OBJECTIVE: This

  12. Body Weight and Body Mass Index in Patients with End-Stage Cystic Fibrosis Stabilize After the Start of Enteral Tube Feeding

    NARCIS (Netherlands)

    Hollander, Francis M.; Roos, de Nicole M.; Belle-Van Meerkerk, Gerdien; Teding van Berkhout, Ferdinand; Heijerman, Harry G.M.; Graaf, van de Ed A.

    2017-01-01

    Background: Enteral tube feeding (ETF) is widely used in patients with cystic fibrosis (CF) and end-stage lung disease, but previous studies have been limited to investigating whether ETF improves outcomes in patients with moderately or mildly impaired pulmonary function. Objective: This study

  13. Myocardial fibrosis in patients with myotonic dystrophy type 1

    DEFF Research Database (Denmark)

    Petri, Helle; Ahtarovski, Kiril Aleksov; Vejlstrup, Niels

    2014-01-01

    , and the association between myocardial fibrosis and abnormal findings on ECG, Holter-monitoring and echocardiography. METHODS: We selected 30 unrelated patients with DM1: 18 patients (10 men, mean age 51 years) with, and 12 patients (7 men, mean age 41 years) without abnormal findings on ECG and Holter-monitoring....... Patients were evaluated with medical history, physical examination, ECG, Holter-monitoring, echocardiography and CMR. RESULTS: Myocardial fibrosis was found in 12/30 (40%, 9 men). The presence of myocardial fibrosis was associated with the following CMR-parameters: increased left ventricular mass (median...... of myocardial fibrosis and abnormal findings on: ECG (p = 0.71), Holter-monitoring (p = 0.27) or echocardiographic measurements of left ventricular volumes, ejection fraction or global longitudinal strain (p = 0.18). CONCLUSION: Patients with DM1 had a high prevalence of myocardial fibrosis which...

  14. Pseudomonas aeruginosa in cystic fibrosis patients with G551D-CFTR treated with ivacaftor.

    Science.gov (United States)

    Heltshe, Sonya L; Mayer-Hamblett, Nicole; Burns, Jane L; Khan, Umer; Baines, Arthur; Ramsey, Bonnie W; Rowe, Steven M

    2015-03-01

    Ivacaftor improves outcomes in cystic fibrosis (CF) patients with the G551D mutation; however, effects on respiratory microbiology are largely unknown. This study examines changes in CF respiratory pathogens with ivacaftor and correlates them with baseline characteristics and clinical response. The G551D Observational Study enrolled a longitudinal observational cohort of US patients with CF aged 6 years and older with at least 1 copy of the G551D mutation. Results were linked with retrospective and prospective culture data in the US Cystic Fibrosis Foundation's National Patient Registry. Pseudomonas aeruginosa infection category in the year before and year after ivacaftor was compared and correlated with clinical findings. Among 151 participants prescribed ivacaftor, 29% (26/89) who were culture positive for P. aeruginosa the year prior to ivacaftor use were culture negative the year following treatment; 88% (52/59) of those P. aeruginosa free remained uninfected. The odds of P. aeruginosa positivity in the year after ivacaftor compared with the year prior were reduced by 35% (odds ratio [OR], 0.65; P < .001). Ivacaftor was also associated with reduced odds of mucoid P. aeruginosa (OR, 0.77; P = .013) and Aspergillus (OR, 0.47; P = .039), but not Staphylococcus aureus or other common CF pathogens. Patients with intermittent culture positivity and higher forced expiratory volume in 1 second (FEV1) were most likely to turn culture negative. Reduction in P. aeruginosa was not associated with change in FEV1, body mass index, or hospitalizations. Pseudomonas aeruginosa culture positivity was significantly reduced following ivacaftor treatment. Efficacious CFTR modulation may contribute to lower frequency of culture positivity for P. aeruginosa and other respiratory pathogens, particularly in patients with less established disease. © The Author 2014. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For

  15. Risk of asthma in heterozygous carriers for cystic fibrosis

    DEFF Research Database (Denmark)

    Nielsen, Anne Orholm; Qayum, Sadaf; Bouchelouche, Pierre Nourdine

    2016-01-01

    Background Patients with cystic fibrosis (CF) have a higher prevalence of asthma than the background population, however, it is unclear whether heterozygous CF carriers are susceptible to asthma. Given this, a meta-analysis is necessary to determine the veracity of the association of CF...

  16. Lung function in South African children with cystic fibrosis | Zar ...

    African Journals Online (AJOL)

    Objective: To determine the pattern of lung function in stable cystic fibrosis (CF) patients and to investigate the relationship of abnormal lung function to demographic variables, CF genotype and pulmonary colonisation with Pseudomonas aeruginosa (PA). Design: A descriptive study done at the CF clinic at Red Cross War ...

  17. 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...

  18. Clinical characteristics of cystic fibrosis patients prior to lung transplantation: An international comparison between Canada and the United States.

    Science.gov (United States)

    Quon, Bradley S; Sykes, Jenna; Stanojevic, Sanja; Marshall, Bruce C; Petren, Kristofer; Ostrenga, Josh; Fink, Aliza; Elbert, Alexander; Faro, Albert; Goss, Christopher H; Stephenson, Anne L

    2018-03-01

    Cystic fibrosis (CF) patients from Canada have better-reported post-lung transplant survival compared to patients from the United States. We hypothesized the clinical characteristics of CF patients prior to lung transplant differ between the two countries. Population-based cohort study utilizing combined Canadian CF Registry and US CF Foundation Patient Registry data from 1986 to 2013. Demographic and clinical variables were analyzed prior to lung transplant. Between 1986 and 2013, 607 (10.2%) CF patients underwent lung transplantation in Canada and 3428 (7.5%) in the United States. A lower proportion of recipients had growth of B. cepacia complex prior to transplant in the United States compared to Canada (0.8% vs 4.3%). Lung function was similar between recipients from the two countries. The proportion of patients classified as underweight was significantly higher in the United States compared to Canada (39.8% vs 28.0%; SD 26.1) despite higher rates of feeding tube use (42.5% vs 28.6%; SD 29.0). CF lung transplant recipients from the United States have similar lung function, lower rates of B. cepacia complex, and worse nutritional parameters prior to transplant compared to counterparts in Canada. Future studies are necessary to evaluate the impact of these differences on post-transplant survival. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. Is the improvement of CF patients, hospitalized for pulmonary exacerbation, correlated to a decrease in bacterial load?

    Directory of Open Access Journals (Sweden)

    Pieter Deschaght

    Full Text Available BACKGROUND: Cystic Fibrosis (CF patients are vulnerable to airway colonization with Pseudomonas aeruginosa. In case eradication fails after antibiotic treatment, patients become chronically colonized with P. aeruginosa, with recurrent pulmonary exacerbation, for which patients typically are hospitalized for 2 weeks and receive intravenous antibiotic treatment. Normally, improvement of the patients' health is established. AIM: Determination of the correspondence between patient improvement and changes of the P. aeruginosa and total bacterial load in the sputum. METHODS: Eighteen CF patients with exacerbation were included for a total of 27 hospitalization episodes. At day 1, 8 and 15, inflammation and lung function parameters were determined, together with the P. aeruginosa load in the sputum using culture, quantitative PCR (qPCR and propidium monoazide qPCR. RESULTS: Patients improved during hospitalization (decrease in levels of C-reactive protein, white blood cell counts and erythrocyte sedimentation rate, increase of FEV1, reaching normal values already after one week. Also the P. aeruginosa load and the total bacterial load decreased during the first week of antibiotic treatment (p<0.05, except for patients with a low lung function (FEV1≤39.4%, for whom no significant decrease of P. aeruginosa was established. Comparison of culture-based and propidium monoazide qPCR-based quantification of P. aeruginosa showed that at the end of the treatment on average 62% of the P. aeruginosa cells are not cultivable, indicating that many cells are alive but dormant, or dead but still structurally intact. CONCLUSION: Improvement of the clinical status is accompanied with a decrease of the P. aeruginosa load, whereby both occur mainly during the first week of antibiotic treatment. However, for patients with a low lung function, no decrease of the P. aeruginosa load is observed. Comparison of detection techniques shows that a large amount of noncultivable

  20. Differences in mucus-stimulating serum fractions of cystic fibrosis patients and controls.

    Science.gov (United States)

    Bang, B G; Bang, F B; Failla, J M

    1983-03-01

    In nature, the urn cell complexes which swim in the coelomic fluid of the marine invertebrate, Sipunculus nudus, produce "tails" of mucus in response to bacterial pathogens. Since they produce measurable tails of mucus in vitro, suspensions of urn cell complexes provide a bioassay for mucus-stimulating substances (MSS) in biological fluids, including several human body fluids. Heat-activated seawater dilutions of human serum contain MSS. Serum from 87 cystic fibrosis (CF) homozygotes, 60 obligate heterozygotes, and 45 controls were fractionated on a Sephadex G-200 gel filtration column. After subsequent heating for 4 min at 85 degrees C, the fractions of all normal sera showed two characteristic peaks of MSS activity. The pattern differed in heated serum fractions of CF patients, in that the second peak was lacking in 59% of individual tests. The pattern was intermediate in heterozygote sera. Of the 36 CF serum fractions which did have two peaks of activity, 89% had the predominant activity in peak 1. The frequency of single peaks of activity increased with patient age, from 33% in those under 10 years to 75% in those over 16. The molecular weight of peak 1 is about 75,000 daltons, of peak 2 about 30,000. One may speculate that the frequent lack of peak 2 serum components may be associated with the inability of most CF patients to produce normal mucus following respiratory infection.

  1. [Molecular characterization of pathogenic bacteria of the respiratory tract in peruvian patients with cystic fibrosis].

    Science.gov (United States)

    Aquino, Ruth; Gonzáles, Emely; Samaniego, Sol; Rivera, Juan; Cedeño, Virna; Urbina, Yrene; Diringer, Benoit

    2017-01-01

    To molecularly characterize the pathogenic bacteria of the respiratory tract isolated from patients with cystic fibrosis (CF) in Peru. Bacterial communities cultured from sputum samples of pediatric and adult patients with CF admitted to the Edgardo Rebagliati Martins National Hospital and the National Institute of Child Health were characterized. Standard microbiological techniques were used for bacterial culture, and gene sequencing of 16S rRNA and matrix-assisted laser desorption ionization time-of-flight (MALDI-TOF) mass spectrometry and tandem MALDI-TOF mass spectrometry (MALDI TOF/TOF) were used for molecular characterization. Seventeen bacterial strains were characterized by 16S rRNA sequencing, and the identified pathogenic bacteria were Pseudomonas aeruginosa (31.5%), Staphylococcus aureus (12.6%), Pseudomonas spp. (11.8%), and Klebsiella oxytoca (3.1%). MALDI-TOF analysis generated a series of spectra representative of each isolated bacterial species, whereas MALDI TOF/TOF analysis identified the peptides and proteins of the most common strains and provided data on pathogenicity and sensitivity to antibiotics. The primary pathogenic microorganisms found in the respiratory tract of patients with CF in Peru were the same as those found in other countries. This study is the first to perform 16S rRNA sequencing as well as MALDI-TOF and MALDI-TOF/TOF analysis of the bacterial pathogens circulating in Peru. The inclusion of proteomic analysis further allowed for the identification of native microorganisms involved in CF.

  2. Comparison of techniques to examine the diversity of fungi in adult patients with cystic fibrosis.

    Science.gov (United States)

    Nagano, Yuriko; Elborn, J Stuart; Millar, B Cherie; Walker, James M; Goldsmith, Colin E; Rendall, Jackie; Moore, John E

    2010-02-01

    This study compares conventional and molecular techniques for the detection of fungi in 77 adult cystic fibrosis (CF) patients. Three different methods were investigated, i.e., (1) conventional microbiological culture (including yeasts and filamentous fungi), (2) mycological culture with CF-derived fungal specific culture media, and (3) Non-culture and direct DNA extraction from patient sputa. Fungi isolated from environmental air samples of the CF unit were compared to fungi in sputa from CF patients. Fungi (n = 107) were detected in 14/77(18%) of patients by method 1, in 60/77 (78%) of patients by method 2 and with method 3, in 77/77(100%) of the patients. The majority of yeasts isolated were Candida albicans and C. dubliniensis. Exophiala (Wangiella) dermatitidis, Scedosporium apiospermum, Penicillium spp., Aspergillus fumigatus, and Aspergillus versicolor were also identified by sequence analysis of the rDNA short internal transcribed spacer (ITS2) region. Conventional laboratory analysis failed to detect fungi in 63 patients mainly due to overgrowth by Gram-negative organisms. Mycological culture with antibiotics dramatically increased the number of fungi that could be detected. Molecular techniques detected fungi such as Saccharomyces cerevisiae, Malassezia spp., Fuscoporia ferrea, Fusarium culmorum, Acremonium strictum, Thanatephorus cucumeris and Cladosporium spp. which were not found with other methods. This study demonstrates that several potentially important fungi may not be detected if mycological culture methods alone are used. A polyphasic approach employing both enhanced mycological culture with molecular detection will help determine the presence of fungi in the sputa of patients with CF and their healthcare environment.

  3. Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?

    Science.gov (United States)

    Ooi, Chee Y; Dupuis, Annie; Ellis, Lynda; Jarvi, Keith; Martin, Sheelagh; Ray, Peter N; Steele, Leslie; Kortan, Paul; Gonska, Tanja; Dorfman, Ruslan; Solomon, Melinda; Zielenski, Julian; Corey, Mary; Tullis, Elizabeth; Durie, Peter

    2014-03-01

    The phenotypic spectrum of cystic fibrosis (CF) has expanded to include patients affected by single-organ diseases. Extensive genotyping and nasal potential difference (NPD) testing have been proposed to assist in the diagnosis of CF when sweat testing is inconclusive. However, the diagnostic yield of extensive genotyping and NPD and the concordance between NPD and the sweat test have not been carefully evaluated. We evaluated the diagnostic outcomes of genotyping (with 122 mutations included as disease causing), sweat testing and NPD in a prospectively ascertained cohort of undiagnosed patients who presented with chronic sino-pulmonary disease (RESP), chronic/recurrent pancreatitis (PANC) or obstructive azoospermia (AZOOSP). 202 patients (68 RESP, 42 PANC and 92 AZOOSP) were evaluated; 17.3%, 22.8% and 59.9% had abnormal, borderline and normal sweat chloride results, respectively. Only 17 (8.4%) patients were diagnosable as having CF by genotyping. Compared to sweat testing, NPD identified more patients as having CF (33.2%) with fewer borderline results (18.8%). The level of agreement according to kappa statistics (and the observed percentage of agreement) between sweat chloride and NPD in RESP, PANC and AZOOSP subjects was 'moderate' (65% observed agreement), 'poor' (33% observed agreement) and 'fair' (28% observed agreement), respectively. The degree of agreement only improved marginally when subjects with borderline sweat chloride results were excluded from the analysis. The diagnosis of CF or its exclusion is not always straightforward and may remain elusive even with comprehensive evaluation, particularly among individuals who present at an older age with single-organ manifestations suggestive of CF.

  4. 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 ...

  5. Mucus-stimulating activity in the sera of patients with cystic fibrosis: demonstration and preliminary fractionation.

    Science.gov (United States)

    Kurlandsky, L E; Berninger, R W; Talamo, R C

    1980-11-01

    The ciliated, mucus-secreting urn cell complex (UCC) is found swimming in the coelomic cavity of the marine invertebrate Sipunculus nudus. This cell complex, which can be maintained in suspension cultures, responds to various stimuli by hypersecreting mucus in the form of a cohesive mucus "tail." This tail can be measured and expressed as a multiple of "urn cell diameters." Using this bioassay, heated sera from 35 patients with cystic fibrosis (CF), 29 patients who were obligate heterozygotes for the CF gene, and 42 controls with a variety of diseases were tested. Control sera yielded a mean (+/- S.D.) mucus tail length of 2.5 (+/-2.3); CF sera yielded a mean mucus tail length of 7.5 (+/- 2.9), (P Sipunculus, as well as from different Sipunculi. In addition, sera from 3 CF patients and 3 controls were chromatographed on protein A-Sepharose. The bound IgG fraction was then washed with 8 M urea and subsequently eluted with 1 M acetic acid. Pooled dialyzed, lyophilized fractions were assayed as coded samples in the UCC assay. Mucus-stimulating activity as measured by mucus tail length per mg protein was greatest in the fractions eluted with 8 M urea. The 8 M urea fractions from 3 CF sera were 2.8 to 5.5 times as active as fractions from 3 control sera. The UCC assay can quantitatively measure mucus-stimulating activity in CF serum. This activity appears to be associated with a serum fraction which can be dissociated from IgG.

  6. Aminoglycoside exposure and renal function before lung transplantation in adult cystic fibrosis patients.

    Science.gov (United States)

    Novel-Catin, Etienne; Pelletier, Solenne; Reynaud, Quitterie; Nove-Josserand, Raphaele; Durupt, Stephane; Dubourg, Laurence; Durieu, Isabelle; Fouque, Denis

    2018-04-18

    Patients with cystic fibrosis (CF) are at risk of kidney injury even before undergoing lung transplantation, because of prolonged exposure to aminoglycosides (AGs), chronic dehydration and complications of diabetes mellitus. The usual equations estimating the glomerular filtration rate (GFR), such as Cockcroft-Gault and Modification of Diet in Renal Disease, are not adapted to the CF population due to patients' low body weight and reduced muscle mass. The aim of this study was to precisely measure GFR in adult CF patients and to see whether repeated AG treatment would impair renal function before lung transplantation. Inulin or iohexol clearances were performed in 25 adult CF patients when they entered the lung transplant waiting list. No patient was treated with AGs at the time of GFR measurement. Body mass index (BMI), history of diabetes mellitus and blood pressure were recorded. Exposure to intravenous (IV) AGs within 5 years prior to the GFR measurement was obtained from the patient's medical files. Urine samples were collected to check for albuminuria and proteinuria. The population was predominantly female (67%). The mean age was 32 years, the mean BMI was 19 kg/m2 and 28% had CF-related diabetes. Median exposure to IV AG within 5 years before GFR measurement was 155 days with a mean dosage of 7.7mg/kg/day. The mean measured GFR was 106 mL/min/1.73 m2 and the mean estimated GFR according to the Chronic Kidney Disease Epidemiology Collaboration formula was 124 mL/min/1.73 m2. Despite prolonged exposure to high-dose IV AG, no decline in GFR was observed in these patients.

  7. Bacterial evolution in PCD and CF patients follows the same mutational steps

    DEFF Research Database (Denmark)

    Madsen Sommer, Lea Mette; Alanin, Mikkel Christian; Marvig, Rasmus L.

    2016-01-01

    . aeruginosa isolates from CF patients has shown that persistence of clonal lineages in the airways is facilitated by genetic adaptation. It is unknown whether this also applies to P. aeruginosa airway infections in PCD. We compared within-host evolution of P. aeruginosa in PCD and CF patients. P. aeruginosa...... isolates from 12 PCD patients were whole genome sequenced and phenotypically characterised. Ten out of 12 PCD patients were infected with persisting clone types. We identified convergent evolution in eight genes, which are also important for persistent infections in CF airways: genes related to antibiotic...... resistance, quorum sensing, motility, type III secretion and mucoidity. We document phenotypic and genotypic parallelism in the evolution of P. aeruginosa across infected patients with different genetic disorders. The parallel changes and convergent adaptation and evolution may be caused by similar selective...

  8. 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 ...

  9. Lung fibrosis in deceased HIV-infected patients with Pneumocystis ...

    African Journals Online (AJOL)

    2012-06-02

    Jun 2, 2012 ... Three had co-infection with cytomegalovirus (CMV), two of which had fibrosis present. There was no evidence of TB or other fungal infections. Conclusion. The high mortality seen in this cohort of PcP patients was due to intractable respiratory failure from interstitial lung fibrosis. Whereas the differential.

  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. Evaluation of a bovine antibody test for diagnosing Mycobacterium avium complex in patients with cystic fibrosis

    DEFF Research Database (Denmark)

    Qvist, Tavs; Pressler, Tacjana; Katzenstein, Terese L.

    2017-01-01

    Introduction: The aim of this study was to test a commercial bovine enzyme-linked immunosorbent assay for investigating antibody activity against Mycobacterium avium complex. Methods: All patients at the Copenhagen Cystic Fibrosis (CF) Center who had culture for nontuberculous mycobacteria......, corresponding to a sensitivity of 100% (54–100), specificity of 66% (60–72), a positive predictive value of 6% (2–13), and negative predictive value of 100% (98–100). Conclusion: While not suited for direct diagnosis of M. avium complex due to a high number of false positive subjects, the assay proved useful...

  12. First time identification of Pandoraea sputorum from a patient with cystic fibrosis in Argentina: a case report.

    Science.gov (United States)

    Martina, Pablo F; Martínez, Mónica; Frada, Guillermo; Alvarez, Florencia; Leguizamón, Lorena; Prieto, Claudia; Barrias, Carolina; Bettiol, Marisa; Lagares, Antonio; Bosch, Alejandra; Ferreras, Julián; Von Specht, Martha

    2017-02-07

    Pandoraea species are considered emerging pathogens in the context of cystic fibrosis (CF) and are difficult to identify by conventional biochemical methods. These multidrug resistant bacteria remain poorly understood particularly in terms of natural resistance, mechanisms of acquired resistance and impact on the prognosis of the disease and the lung function. Among them, Pandoraea sputorum has been previously described in few cases of CF patients from Spain, Australia, France and United States, underlining the need of more clinical data for a better knowledge of its pathogenicity. This is the first report relating to P. sputorum in a CF patient in Argentina. Pandoraea sputorum was identified in a nine-year-old cystic fibrosis patient from Argentina, after treatment failure during an exacerbation. The isolates were successfully identified by combining molecular techniques based on 16S rRNA sequencing and mass spectrometry (MS) methods, after reassessing previous misidentified isolates by conventional methods. After first isolation of P. sputorum, patient's clinical condition worsened but later improved after a change in the treatment. Although isolates showed susceptibility to trimethoprim-sulfamethoxazole and imipenem, in our case, the antibiotic treatment failed in the eradication of P. sputorum. All combined data showed a chronic colonization with P. sputorum associated to a deterioration of lung function. We noted that the presence of P. sputorum can be underestimated in CF patients and MALDI-TOF MS appears to be a promising means of accurate identification of Pandoraea species.

  13. A semiquantitative MRI-Score can predict loss of lung function in patients with cystic fibrosis: Preliminary results

    Energy Technology Data Exchange (ETDEWEB)

    Schaefer, Juergen F.; Schmidt, Katharina; Teufel, Matthias; Fleischer, Sabrina; Gatidis, Sergios; Schaefer, Susanne; Nikolaou, Konstantin; Tsiflikas, Ilias [University Hospital of Tuebingen, Department of Diagnostic and Interventional Radiology, Tuebingen (Germany); Hector, Andreas; Graepler-Mainka, Ute; Riethmueller, Joachim; Hartl, Dominik [University Children' s Hospital of Tuebingen, Department of Paediatrics I, Tuebingen (Germany)

    2018-01-15

    To evaluate the applicability of a semiquantitative MRI scoring system (MR-CF-S) as a prognostic marker for clinical course of cystic fibrosis (CF) lung disease. This observational study of a single-centre CF cohort included a group of 61 patients (mean age 12.9 ± 4.7 years) receiving morphological and functional pulmonary MRI, pulmonary function testing (PFT) and follow-up of 2 years. MRI was analysed by three raters using MR-CF-S. The inter-rater agreement, correlation of score categories with forced expiratory volume in 1 s (FEV{sub 1}) at baseline, and the predictive value of clinical parameters, and score categories was assessed for the whole cohort and a subgroup of 40 patients with moderately impaired lung function. The inter-rater agreement of MR-CF-S was sufficient (mean intraclass correlation coefficient 0.92). MR-CF-S (-0.62; p < 0.05) and most of the categories significantly correlated with FEV{sub 1}. Differences between patients with relevant loss of FEV{sub 1} (>3%/year) and normal course were only significant for MR-CF-S (p < 0.05) but not for clinical parameters. Centrilobular opacity (CO) was the most promising score category for prediction of a decline of FEV{sub 1} (area under curve: whole cohort 0.69; subgroup 0.86). MR-CF-S is promising to predict a loss of lung function. CO seems to be a particular finding in CF patients with an abnormal course. (orig.)

  14. Within-Host Evolution of the Dutch High-Prevalent Pseudomonas aeruginosa Clone ST406 during Chronic Colonization of a Patient with Cystic Fibrosis

    DEFF Research Database (Denmark)

    Van Mansfeld, Rosa; De Been, Mark; Paganelli, Fernanda

    2016-01-01

    This study investigates adaptation of ST406, a prevalent P. aeruginosa clone, present in 15% of chronically infected cystic fibrosis (CF) patients in the Netherlands, in a newly infected CF patient during three years using whole genome sequencing (WGS), transcriptomics, and phenotypic assays......, including biofilm formation. WGS-based phylogeny demonstrates that ST406 is genetically distinct from other reported CF related strains or epidemic clones. Comparative genomic analysis of the early (S1) and late (S2) isolate yielded 42 single nucleotide polymorphisms (SNPs) and 10 indels and a single 7 kb......S during chronic colonization. These data suggest that the high-prevalent Dutch CF clone ST406 displays adaptation to the CF lung niche, which involves a limited number of mutations affecting regulators controlling biofilm formation and secretion and genes involved in metabolism. These genes could provide...

  15. Case series of omalizumab for allergic bronchopulmonary aspergillosis in cystic fibrosis patients.

    Science.gov (United States)

    Nové-Josserand, Raphaële; Grard, Soazic; Auzou, Lila; Reix, Philippe; Murris-Espin, Marlène; Brémont, François; Mammar, Benyebka; Mely, Laurent; Hubert, Dominique; Durieu, Isabelle; Burgel, Pierre-Régis

    2017-02-01

    Allergic bronchopulmonary aspergillosis (ABPA) affects up to 15% of patients with cystic fibrosis (CF). Corticosteroids are used as first-line therapy, but relapse and adverse effects commonly occur. Case reports have suggested the efficacy of the anti-IgE recombinant humanized monoclonal antibody omalizumab. A retrospective multicenter observational French study retrieved 32 CF patients (11 children and 21 adults) who have received omalizumab for more than 3 months in the context of ABPA. Clinical characteristics, concomitant medications (inhaled and oral corticosteroids, antifungal drugs), lung function, body mass index (BMI), and serum IgE were compared at the start and during the first year of omalizumab therapy. Omalizumab-related adverse effects and costs were also evaluated. No significant difference with omalizumab could be demonstrated with regard to lung function, BMI, or the number of patients receiving oral corticosteroids. At the time of initiation of omalizumab, 56% of patients were receiving oral corticosteroids. Five patients were able to discontinue corticosteroids during follow-up and nine patients were able to reduce their daily dose. A total of 78% of the patients had received antifungal therapy at the time of the initiation of omalizumab. Treatment tolerance was good (12.5% of patients experienced side effects). The median cost of omalizumab treatment was €3,620 per patient per month. Omalizumab may represent a steroid-sparing therapy in CF patients with ABPA. A randomized-controlled trial is urgently required to provide higher level of evidence regarding the efficacy and cost-effectiveness of omalizumab in CF patients with ABPA. Pediatr Pulmonol. 2017;52:190-197. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  16. Self-reported use of vitamins and other nutritional supplements in adult patients with cystic fibrosis. Is daily practice in concordance with recommendations?

    NARCIS (Netherlands)

    Hollander, F.M.; Roos, de N.M.; Dopheide, J.

    2010-01-01

    Background: In cystic fibrosis (CF), prophylactic supplementation of the fat-soluble vitamins A, D, E, and K is recommended. Limited data is available describing vitamin prescription adherence by adult patients. The aim of this study was to assess the use of prescribed vitamins and other nutritional

  17. Budget impact model of tobramycin inhalation solution for treatment of Pseudomonas aeruginosa in cystic fibrosis patients.

    Science.gov (United States)

    Woodward, Tatia Chay; Brown, Ruth; Sacco, Patricia; Zhang, Jie

    2010-01-01

    Pseudomonas aeruginosa (PA) is the most common airway pathogen in cystic fibrosis (CF) patients. The objective of this analysis was to determine the costs of managing PA infection in CF patients with a chronic regimen of tobramycin inhalation solution (TIS). A budget impact model of CF patients was developed to evaluate the costs of TIS from a US managed-care organization (MCO) perspective. The Microsoft Excel model compared TIS treatment plus standard care with standard care alone over a 4-year time horizon and included the cost of drugs, medical care, and annual probabilities of hospitalization and IV anti-pseudomonal (anti-PA) antibiotics administration. For an MCO with 5,000,000 members, 389 members 6 years of age or older were estimated to have CF, and 218 (56%) had PA infection. Assuming that use of TIS increased from 20% to 25%, the 1-year budget increased $231,251 or from $0.049 to $0.053 per member per month (PMPM). The net drug budget increase was $243,919, while medical costs associated with exacerbation management decreased $12,669 over the first year. Increasing utilization of TIS, from 20% to 40% over 4 years resulted in an incremental overall budget increase of $925,002, a 3% decrease in hospitalizations, and a 4% decrease in administrations of IV anti-PA antibiotics. These reductions translated to a medical care cost saving of $50,676 over 4 years. Limitations of this study include that the clinical data for the model are from clinical trials conducted in 1996 and the estimation of TIS use for CF patients with chronic PA infections can be impacted by TIS adherence. Model results suggest that increasing the use of TIS decreases medical care costs due to decreased hospital admissions and the use of IV anti-PA antibiotics at the expense of higher drug costs.

  18. Bone mineral and body composition alterations in paediatric cystic fibrosis patients

    Energy Technology Data Exchange (ETDEWEB)

    Reix, Philippe; Bellon, Gabriel [Hopital Femme Mere Enfant, Service de Pediatrie, Pneumologie, Allergologie, Mucoviscidose, Bron (France); Braillon, Pierre [Hospices Civils de Lyon, Service d' Imagerie Foetale et Pediatrique, Bron (France)

    2010-03-15

    With the increased life span of cystic fibrosis (CF) patients, CF-related bone diseases could have an increased prevalence and morbidity in this group. In children, previous retrospective and prospective studies have yielded conflicting results on bone mineralization. To monitor body composition and bone mineral status of children with CF. We reviewed the dual-energy X-ray absorptiometry (DXA) data of 161 children with CF (age 10 {+-} 4.8 years). Total body bone mineral content (BMCt), total lean tissue mass (LTMt) and total fat mass (FMt) were measured and compared to expected data calculated from ideal weight for height (Wi; e.g. BMCti, LTMti, FMti). The bt (BMCt/BMCti), lt (LTMt/LTMti) and ft (FMt/FMti) ratios were used as quantitative variables. Low bt ratio was found at all ages (mean bt ratio 0.94{+-}0.10; P<0.001), even in children <6 years of age. However, the children's BMCt was satisfactorily adapted to their weight. lt and ft ratios were not constant across age groups. Children <10 years had 8% reduction of their lt ratio, maintaining normal levels thereafter. The opposite trend was found for ft ratio. Poor clinical, nutritional status and vitamin A levels were correlated with bt and lt ratios. Our results indicate that children with CF could have early alterations in their bone status and that lt and ft ratios did not have constant values across ages. Interpreting DXA data using this approach is suitable in children with CF. (orig.)

  19. Bone mineral and body composition alterations in paediatric cystic fibrosis patients

    International Nuclear Information System (INIS)

    Reix, Philippe; Bellon, Gabriel; Braillon, Pierre

    2010-01-01

    With the increased life span of cystic fibrosis (CF) patients, CF-related bone diseases could have an increased prevalence and morbidity in this group. In children, previous retrospective and prospective studies have yielded conflicting results on bone mineralization. To monitor body composition and bone mineral status of children with CF. We reviewed the dual-energy X-ray absorptiometry (DXA) data of 161 children with CF (age 10 ± 4.8 years). Total body bone mineral content (BMCt), total lean tissue mass (LTMt) and total fat mass (FMt) were measured and compared to expected data calculated from ideal weight for height (Wi; e.g. BMCti, LTMti, FMti). The bt (BMCt/BMCti), lt (LTMt/LTMti) and ft (FMt/FMti) ratios were used as quantitative variables. Low bt ratio was found at all ages (mean bt ratio 0.94±0.10; P<0.001), even in children <6 years of age. However, the children's BMCt was satisfactorily adapted to their weight. lt and ft ratios were not constant across age groups. Children <10 years had 8% reduction of their lt ratio, maintaining normal levels thereafter. The opposite trend was found for ft ratio. Poor clinical, nutritional status and vitamin A levels were correlated with bt and lt ratios. Our results indicate that children with CF could have early alterations in their bone status and that lt and ft ratios did not have constant values across ages. Interpreting DXA data using this approach is suitable in children with CF. (orig.)

  20. Long-chain PUFA in Granulocytes, Mononuclear Cells, and RBC in Patients With Cystic Fibrosis: Relation to Liver Disease

    DEFF Research Database (Denmark)

    Jorgensen, Marianne H.; Ott, Peter; Michaelsen, Kim F.

    2012-01-01

    -related liver disease were matched with 20 CF patients without. Blood samples were analysed for liver biochemistry and haematology. Granulocytes, mononuclear cells, and RBC were separated by density gradient centrifugation, and fatty acid composition was measured by gas chromatography. Hepatic ultrasound......Background and Aim: Patients with cystic fibrosis (CF) have low levels of n-3 long-chain polyunsaturated fatty acids (n-3 LCPUFA) in plasma or red blood cells (RBC), as also seen in other chronic and acute liver diseases. The differences may be more pronounced in CF transmembrane conductance...... of liver disease was negatively associated with LCPUFA n-3 levels in CFTR-expressing white blood cells but unrelated to those levels in CFTR-negative RBC....

  1. Myocardial fibrosis and pro-fibrotic markers in end-stage heart failure patients during continuous-flow left ventricular assist device support.

    Science.gov (United States)

    Lok, Sjoukje I; Nous, Fay M A; van Kuik, Joyce; van der Weide, Petra; Winkens, Bjorn; Kemperman, Hans; Huisman, Andre; Lahpor, Jaap R; de Weger, Roel A; de Jonge, Nicolaas

    2015-09-01

    During support with a left ventricular assist device (LVAD), partial reverse remodelling takes place in which fibrosis plays an important role. In this study, we analysed the histological changes and expression of fibrotic markers in patients with advanced heart failure (HF) during continuous-flow LVAD (cf-LVAD) support. In 25 patients, myocardial tissue at the time of LVAD implantation (pre-LVAD) was compared with tissue from the explanted left ventricle (post-LVAD). Interstitial fibrosis and cardiomyocyte size were analysed pre- and post-LVAD. Plasma was obtained from all patients before and during LVAD support. Plasma levels, cardiac mRNA and protein expression of brain natriuretic peptide (BNP), galectin-3 (Gal-3), connective tissue growth factor (CTGF), osteopontin (OPN) and transforming growth factor β-1 were determined. Fibrosis increased during cf-LVAD unloading (P markers remained elevated in comparison with controls. cf-LVAD support is associated with lengthening of cardiomyocytes, without alterations in diameter size. Remarkably, myocardial fibrosis increased as well as circulating pro-fibrotic markers. Whether the morphological changes are a direct effect of reduced pulsatility during cf-LVAD support or due to HF progression requires further investigation. © The Author 2015. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  2. European Cystic Fibrosis Society Standards of Care

    DEFF Research Database (Denmark)

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

    2014-01-01

    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...

  3. Procedural pain in children with Cystic Fibrosis: an international survey on the methods used by CF centres to prevent and reduce it

    DEFF Research Database (Denmark)

    Festini, Filippo; Bregnballe, Vibeke

    2006-01-01

    Procedural pain is an additional burden for children with CE If not adequately prevented and treated procedural pain may result in anxiety and fear bound to the visits at the CF Centre (CFC) and it may affect patients' future compliance to treatments. Aim: To collect data on what CFCs in the world...... do to prevent pain and fear in CF children. A 14-item questionnaire in 5 languages was sent to 441 CFCs' email addresses worldwide and posted on the INSG-CF web site. It regarded the methods used by CF Centres to control pain and fear during invasive procedures (e.g.: blood drawing, vein cannulation.......g., distractiozl, relaxation) 83.3 92.8 (always or often) Parents' presence during procedure 80.5 100 Pain measurement with scales (always or often) 8.3 64.3 Although much is done, a number of effective, safe, simple measures to control pain and fear are still not used in many CFCs. Our study shows a wider use...

  4. Procedural pain in children with Cystic Fibrosis: an international survey on the methods used by CF centres to prevent and reduce it

    DEFF Research Database (Denmark)

    Festini, Filippo; Bregnballe, Vibeke

    2006-01-01

    Procedural pain is an additional burden for children with CE If not adequately prevented and treated procedural pain may result in anxiety and fear bound to the visits at the CF Centre (CFC) and it may affect patients' future compliance to treatments. Aim: To collect data on what CFCs in the world...... do to prevent pain and fear in CF children. A 14-item questionnaire in 5 languages was sent to 441 CFCs' email addresses worldwide and posted on the INSG-CF web site. It regarded the methods used by CF Centres to control pain and fear during invasive procedures (e.g.: blood drawing, vein cannulation....... The table shows the percentage of CFCs which use specific pain and fear control measures. European CFCs Non European CFCs (%) (%) Anaesthetic creams (always or often) 61.1 64.2 Nitrous oxide (often or sometimes) 8.3 14.3 Oral sucrose (often or sometimes) 41.6 35.7 Non-pharmacological teclmiques (e...

  5. Serum zinc concentration in cystic fibrosis patients with CFTR I1234V mutation associated with pancreatic sufficiency.

    Science.gov (United States)

    AbdulWahab, Atqah; Abushahin, Ahmed; Allangawi, Mona; Chandra, Prem; Abdel Rahman, Mohamed Osman; Soliman, Ashraf

    2017-05-01

    To determine serum zinc (Zn) level among cystic fibrosis (CF) patients with homozygous CFTR I1234V mutation associated with pancreatic sufficiency (PS). A cross-sectional study was conducted including both pediatric and adult CF patients. Data on age, weight, height, body mass index (BMI), BMI Z-score, FEV1, and chronic Pseudomonas aeruginosa infection were collected. Serum Zn, albumin, and total proteins were measured and analyzed. Forty-five CF patients with homozygous CFTR I1234V mutation belonging to a large Arab kindred tribe and eight CF patients with other mutations associated with pancreatic insufficiency (PI). Patient's age ranged from 2 to 49 years with a mean age of 15.1 ± 9.1 years and mean plasma Zn of 0.78 ± 0.15 mcg/mL. Seven (13.2%) patients with CFTR I1234V and PS had low Zn levels (<0.6 mcg/mL). Mean age among Zn deficient group was significantly older. The mean FEV1 in the deficient group was found to be insignificant low. Persistent P. aeruginosa colonization was more prevalent in Zn deficient group. BMI Z-scosre of CF patients were positively correlated with Zn levels. Forty-five healthy subjects belonging to the same Arab tribe were selected in order to assess their Zn levels and their mean plasma Zn of 0.84 ± 0.11 mcg/mL (range 0.65-1.1 mcg/mL) with mean age 20.4 ± 10.1 years (range 6-40 years). These findings suggest that Zn deficiency can occur in CF patients with PS. The association of Zn levels and the frequency of P. aeruginosa isolated in CF patients need further investigation. © 2015 The Authors. The Clinical Respiratory Journal Published by John Wiley & Sons Ltd.

  6. Molecular Epidemiology of Mutations in Antimicrobial Resistance Loci of Pseudomonas aeruginosa Isolates from Airways of Cystic Fibrosis Patients.

    Science.gov (United States)

    Greipel, Leonie; Fischer, Sebastian; Klockgether, Jens; Dorda, Marie; Mielke, Samira; Wiehlmann, Lutz; Cramer, Nina; Tümmler, Burkhard

    2016-11-01

    The chronic airway infections with Pseudomonas aeruginosa in people with cystic fibrosis (CF) are treated with aerosolized antibiotics, oral fluoroquinolones, and/or intravenous combination therapy with aminoglycosides and β-lactam antibiotics. An international strain collection of 361 P. aeruginosa isolates from 258 CF patients seen at 30 CF clinics was examined for mutations in 17 antimicrobial susceptibility and resistance loci that had been identified as hot spots of mutation by genome sequencing of serial isolates from a single CF clinic. Combinatorial amplicon sequencing of pooled PCR products identified 1,112 sequence variants that were not present in the genomes of representative strains of the 20 most common clones of the global P. aeruginosa population. A high frequency of singular coding variants was seen in spuE, mexA, gyrA, rpoB, fusA1, mexZ, mexY, oprD, ampD, parR, parS, and envZ (amgS), reflecting the pressure upon P. aeruginosa in lungs of CF patients to generate novel protein variants. The proportion of nonneutral amino acid exchanges was high. Of the 17 loci, mexA, mexZ, and pagL were most frequently affected by independent stop mutations. Private and de novo mutations seem to play a pivotal role in the response of P. aeruginosa populations to the antimicrobial load and the individual CF host. Copyright © 2016, American Society for Microbiology. All Rights Reserved.

  7. Maximum rate of pressure development and maximal relaxation rate of respiratory muscles in patients with cystic fibrosis.

    Science.gov (United States)

    Dassios, Theodore G; Doudounakis, Stavros; Dimitriou, Gabriel

    2013-03-01

    Respiratory muscle function in patients with cystic fibrosis (CF) has been studied by measurement of maximal inspiratory pressure (P(Imax)), maximal expiratory pressure (P(Emax)), and the pressure-time index of the respiratory muscles (PTI(mus)). The maximum rate of pressure development (MRPD) during P(Imax) (MRPD-P(Imax)), MRPD during P(Emax) (MRPD-P(Emax)), maximal relaxation rate (MRR) during P(Imax) (MRR-P(imax)), and MRR during P(Emax) (MRR-P(Emax)) have not been studied in CF. Our aim was to study MRPD and MRR and investigate their possible application as accessory indices of respiratory muscle function in patients with CF. FEVY, FVC, and maximal expiratory flow between 25% and 75% of vital capacity, body mass index (BMI), upper arm muscle area, P(imax), P(Emax), PTI(mus), MRPD-P(Imax), MRPD-P(Emax), MRR-P(imax), and MRR-P(Emax) were assessed in 123 CF patients and in a control group of 123 healthy subjects matched for age and sex. MRR-P(Emax) was significantly increased and MRPD-P(Emax) was significantly decreased in the CF patients, compared to the healthy controls. In the CF patients MRR-P(Imax) was significantly related to PTI(mus) (P = .02), FEV1 (P = .03), FVC (P = .001), BMI (P muscle area (P muscle area (P respiratory effort, compared to controls. The differences in MRR-P(imax) and MRPD-P(Imax) between the controls and the complete group of CF patients were not significant. MRPD and MRR were significantly related to nutritional and pulmonary function impairment in CF patients. MRPD strongly correlated to maximal respiratory muscle pressures, and MRR strongly correlated to PTI(mus) in patients with CF. These findings suggest that CF patients are at increased risk of respiratory muscle fatigue. Regular determination of MRPD and MRR may be clinically useful in CF patients and help to initiate inspiratory muscle training and noninvasive ventilation.

  8. Chromosomal mechanisms of aminoglycoside resistance in Pseudomonas aeruginosa isolates from cystic fibrosis patients.

    Science.gov (United States)

    Islam, S; Oh, H; Jalal, S; Karpati, F; Ciofu, O; Høiby, N; Wretlind, B

    2009-01-01

    In total, 40 Pseudomonas aeruginosa isolates from cystic fibrosis (CF) patients were included in this study. Twenty of these were collected in 1994 and 1997, from six CF patients, and the rest were collected from different CF patients in 2000 and 2001. The relative expression of mRNA for the efflux pump protein MexY was determined by real-time PCR and correlated with susceptibilities to amikacin and tobramycin. The chromosomal genes mexZ, rplY, galU, PA5471 and nuoG, which were found to have a role in the gradual increase in MICs of aminoglycoside antibiotics in laboratory mutants of P. aeruginosa, were analysed. MexY mRNA overproduction was found in 17/20 isolates collected in 1994 and 1997, and was correlated with decreased susceptibility to aminoglycosides. Alteration of the MexXY-OprM efflux system has been the main mechanism of resistance to aminoglycoside antibiotics in CF P. aeruginosa isolates over the 3-year period. In several isolates, expression of the PA5471 gene product might have some effect on elevated MICs of aminoglycosides. Inactivation of rplY, galU and/or nuoG may explain the gradual increase in MICs of aminoglycosides in laboratory mutants but probably not in the CF environment, as rplY and galU were unaltered in all isolates, and nuoG was not expressed in only one isolate. No 16S rRNA A-site mutations were found in any of the four copies of the gene in 13 investigated isolates.

  9. 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...... the importance of biofilm prevention strategies by early aggressive antibiotic prophylaxis or therapy before phenotypic diversification during chronic lung infection of patients with cystic fibrosis....

  10. Azithromycin blocks autophagy and may predispose cystic fibrosis patients to mycobacterial infection

    Science.gov (United States)

    Renna, Maurizio; Schaffner, Catherine; Brown, Karen; Shang, Shaobin; Tamayo, Marcela Henao; Hegyi, Krisztina; Grimsey, Neil J.; Cusens, David; Coulter, Sarah; Cooper, Jason; Bowden, Anne R.; Newton, Sandra M.; Kampmann, Beate; Helm, Jennifer; Jones, Andrew; Haworth, Charles S.; Basaraba, Randall J.; DeGroote, Mary Ann; Ordway, Diane J.; Rubinsztein, David C.; Floto, R. Andres

    2011-01-01

    Azithromycin is a potent macrolide antibiotic with poorly understood antiinflammatory properties. Long-term use of azithromycin in patients with chronic inflammatory lung diseases, such as cystic fibrosis (CF), results in improved outcomes. Paradoxically, a recent study reported that azithromycin use in patients with CF is associated with increased infection with nontuberculous mycobacteria (NTM). Here, we confirm that long-term azithromycin use by adults with CF is associated with the development of infection with NTM, particularly the multi-drug-resistant species Mycobacterium abscessus, and identify an underlying mechanism. We found that in primary human macrophages, concentrations of azithromycin achieved during therapeutic dosing blocked autophagosome clearance by preventing lysosomal acidification, thereby impairing autophagic and phagosomal degradation. As a consequence, azithromycin treatment inhibited intracellular killing of mycobacteria within macrophages and resulted in chronic infection with NTM in mice. Our findings emphasize the essential role for autophagy in the host response to infection with NTM, reveal why chronic use of azithromycin may predispose to mycobacterial disease, and highlight the dangers of inadvertent pharmacological blockade of autophagy in patients at risk of infection with drug-resistant pathogens. PMID:21804191

  11. Diagnosis and Treatment of Endocrine Co-Morbidities in Patients with Cystic Fibrosis

    Science.gov (United States)

    Siwamogsatham, Oranan; Alvarez, Jessica

    2015-01-01

    Purpose of review The aim of this review is to provide an update on various relevant endocrine aspects of care in adolescents and adults with cystic fibrosis (CF). Recent findings As life expectancy in CF has continuously improved, endocrine complications have become more apparent. The common endocrine complications include cystic fibrosis related diabetes (CFRD), cystic fibrosis related bone disease, vitamin D deficiency and poor growth and pubertal development. Thyroid and adrenal disorders have also been reported, although the prevalence appears to be less common. Summary Endocrine diseases are an increasingly recognized complication that has a significant impact on the overall health of individuals with CF. This review summarizes the updated screening and management of endocrine diseases in the CF population. PMID:25105995

  12. Evaluation of respiratory dynamics by volumetric capnography during submaximal exercise protocol of six minutes on treadmill in cystic fibrosis patients.

    Science.gov (United States)

    Parazzi, Paloma L F; Marson, Fernando A L; Ribeiro, Maria A G O; Schivinski, Camila I S; Ribeiro, José D

    2017-11-29

    Volumetric capnography provides the standard CO 2 elimination by the volume expired per respiratory cycle and is a measure to assess pulmonary involvement. Thus, the objective of this study was to evaluate the respiratory dynamics of healthy control subjects and those with cystic fibrosis in a submaximal exercise protocol for six minutes on the treadmill, using volumetric capnography parameters (slope 3 [Slp3], Slp3/tidal volume [Slp3/TV], and slope 2 [Slp2]). This was a cross-sectional study with 128 subjects (cystic fibrosis, 64 subjects; controls, 64 subjects]. Participants underwent volumetric capnography before, during, and after six minutes on the treadmill. Statistical analysis was performed using the Friedman, Mann-Whitney, and Kruskal-Wallis tests, considering age and sex. An alpha=0.05 was considered. Six minutes on the treadmill evaluation: in cystic fibrosis, volumetric capnography parameters were different before, during, and after six minutes on the treadmill; the same was observed for the controls, except for Slp2. Regarding age, an Slp3 difference was observed in cystic fibrosis patients regardless of age, at all moments, and in controls for age≥12 years; a difference in Slp3/TV was observed in cystic fibrosis and controls, regardless of age; and an Slp2 difference in the cystic fibrosis, regardless of age. Regarding sex, Slp3 and Slp3/TV differences were observed in cystic fibrosis regardless of sex, and in controls in male participants; an Slp2 difference was observed in the cystic fibrosis and female participants. The analysis between groups (cystic fibrosis and controls) indicated that Slp3 and Slp3/TV has identified the CF, regardless of age and sex, while the Slp2 showed the CF considering age. Cystic fibrosis showed greater values of the parameters before, during, and after exercise, even when stratified by age and sex, which may indicate ventilation inhomogeneity in the peripheral pathways in the cystic fibrosis. Copyright © 2017

  13. Chest CT features of cystic fibrosis in Korea: Comparison with non-cystic fibrosis diseases

    Energy Technology Data Exchange (ETDEWEB)

    Yang, So Yeon; Lee, Kyung Soo; Kim, Tae Jung; Kim, Tae Sung [Dept. of Radiology, and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of); Cha, Min Jae [Dept. of Radiology, Chung-Ang University Hospital, Chung-Ang University College of Medicine, Seoul (Korea, Republic of); Yoon, Hyun Jung [Dept. of Radiology, Hanyang University Hospital, Hanyang University College of Medicine, Seoul (Korea, Republic of)

    2017-01-15

    Cystic fibrosis (CF) is a rare congenital disease in Korea, and its clinical and imaging findings are unclear. The objective of our study was to describe the clinical and CT features of CF in Korea and compare its features with those of other diseases mimicking CF. From November 1994 to December 2014, a presumptive diagnosis of CF was made in 23 patients based on clinical or radiological examination. After the exclusion of 10 patients without diagnostic confirmation, 13 patients were included in the study. A diagnosis of CF was made with the CF gene study. CT findings were evaluated for the presence and distribution of parenchymal abnormalities including bronchiectasis, tree-in-bud (TIB) pattern, mucus plugging, consolidation, and mosaic attenuation. Of the 13 patients, 7 (median age, 15 years) were confirmed as CF, 4 (median age, 19 years) had primary ciliary dyskinesia, 1 had bronchiectasis of unknown cause, and 1 had chronic asthma. CT of patients with CF showed bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging in all patients, with upper lung predominance (57%). In CT of the non-CF patients, bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging were also predominant features, with lower lung predominance (50%). Korean patients with CF showed bilateral bronchiectasis, cellular bronchiolitis, mucus plugging, and mosaic attenuation, which overlapped with those of non-CF patients. CF gene study is recommended for the definitive diagnosis of CF in patients with these clinical and imaging features.

  14. Chest CT features of cystic fibrosis in Korea: Comparison with non-cystic fibrosis diseases

    International Nuclear Information System (INIS)

    Yang, So Yeon; Lee, Kyung Soo; Kim, Tae Jung; Kim, Tae Sung; Cha, Min Jae; Yoon, Hyun Jung

    2017-01-01

    Cystic fibrosis (CF) is a rare congenital disease in Korea, and its clinical and imaging findings are unclear. The objective of our study was to describe the clinical and CT features of CF in Korea and compare its features with those of other diseases mimicking CF. From November 1994 to December 2014, a presumptive diagnosis of CF was made in 23 patients based on clinical or radiological examination. After the exclusion of 10 patients without diagnostic confirmation, 13 patients were included in the study. A diagnosis of CF was made with the CF gene study. CT findings were evaluated for the presence and distribution of parenchymal abnormalities including bronchiectasis, tree-in-bud (TIB) pattern, mucus plugging, consolidation, and mosaic attenuation. Of the 13 patients, 7 (median age, 15 years) were confirmed as CF, 4 (median age, 19 years) had primary ciliary dyskinesia, 1 had bronchiectasis of unknown cause, and 1 had chronic asthma. CT of patients with CF showed bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging in all patients, with upper lung predominance (57%). In CT of the non-CF patients, bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging were also predominant features, with lower lung predominance (50%). Korean patients with CF showed bilateral bronchiectasis, cellular bronchiolitis, mucus plugging, and mosaic attenuation, which overlapped with those of non-CF patients. CF gene study is recommended for the definitive diagnosis of CF in patients with these clinical and imaging features

  15. Polysomnographic differences associated with pulmonary hypertension in patients with advanced lung disease due to cystic fibrosis.

    Science.gov (United States)

    Hayes, Don; Daniels, Curt J; Kirkby, Stephen; Kopp, Benjamin T; Nicholson, Kerri L; Nance, Ashley E; Splaingard, Mark L

    2014-06-01

    Pulmonary hypertension (PH) commonly occurs in patients with cystic fibrosis (CF), but there is no current data regarding alterations of sleep in patients with PH. A single-center, retrospective review was performed in patients with advanced lung disease due to CF who completed both nocturnal polysomnography and right heart catheterization (RHC) from January 2010 to June 2013. For statistical analysis, two-tailed unpaired t tests and Pearson correlation coefficient analysis were performed after normal distribution was confirmed. A total of 18 consecutive CF patients were enrolled with RHC identifying PH in 56 % (10/18) of patients. The PH group had significantly lower mean sleep efficiency (72 ± 4 vs. 87 ± 3 %, p = 0.01), significantly higher ETCO(2) levels (54.5 ± 2.2 vs. 43.8 ± 3.0 mmHg, p = 0.01) on capnography, and significantly lower PO(2) (53.8 ± 3.1 vs. 65.5 ± 3.9 mmHg, p = 0.03) on capillary blood gas. Correlations with poor sleep efficiency included mean PAP (r = - 0.55, p = 0.01), systolic PAP (r = -0.5, p = 0.03), ETCO(2) (r = - 0.53, p = 0.02), and PO(2)) (r = 0.62, p = 0.01); ETCO(2) with systolic PAP (r = 0.47, p = 0.04) and PCO(2) (r = - 0.57, p = 0.01); and PO(2) to 6-min walk distance (r = 0.55, p = 0.02). We found significant differences in sleep efficiency and gas exchange associated with PH in CF patients with advanced lung disease.

  16. Health-related quality of life of patients with cystic fibrosis assessed by the SF-36 questionnaire.

    Science.gov (United States)

    Uchmanowicz, Izabella; Jankowska-Polańska, Beata; Wleklik, Marta; Rosinczuk-Tonderys, Joanna; Dębska, Grażyna

    2014-01-01

    Cystic fibrosis (CF) is a genetic disorder, which is most common among Caucasians. There are about 100,000 people suffering from this disorder in the world, including 25 000 in Europe. Although the first mention of cystic fibrosis is thought to have occurred in 1595, recognition of the entire clinical spectrum of CF and the resultant development of contemporary knowledge occurred in the 20th century. In the past, CF was considered a fatal childhood disorder; however, contemporary statistical data shows that 50% of people with cystic fibrosis have a chance to live up to 30 years of age, and the lifespan of children born in the 1990s is projected to be at least 40 years. Consequently, the number of adults with cystic fibrosis is increasing, making it necessary for multidisciplinary actions aimed at the improvement of clinical management of the condition as well as minimizing the influence of CF and its treatment on the quality of continually extending life of patients. Since cystic fibrosis interferes with almost all important aspects of human functioning, quality of life (QoL) of individuals with CF should be constantly and closely monitored, thus allowing for consideration of their needs and providing an opportunity to modify the therapeutic approach if necessary. The aim of this study was to visualize the QoL of people with cystic fibrosis, to identify differences in their assessment of QoL depending on sex and age, as well as to compare the QoL of patients with CF with a control group of people without CF. The study was conducted among patients hospitalized at the Clinic of Pulmonology and Cystic Fibrosis at the Institute of Tuberculosis and Lung Diseases in Rabka-Zdrój from February to April 2012. The study encompassed 30 patients (19 women and 11 men), aged between 16 and 42 years, with acute episodes of bronchopulmonary disease. A Short Form-36 (SF-36) questionnaire was used to evaluate the health-related quality of life. The control group encompassed 30

  17. Use of Selective Fungal Culture Media Increases Rates of Detection of Fungi in the Respiratory Tract of Cystic Fibrosis Patients.

    Science.gov (United States)

    Hong, Gina; Miller, Heather B; Allgood, Sarah; Lee, Richard; Lechtzin, Noah; Zhang, Sean X

    2017-04-01

    The prevalence of fungi in the respiratory tracts of cystic fibrosis (CF) patients has risen. However, fungal surveillance is not routinely performed in most clinical centers in the United States, which may lead to an underestimation of the true prevalence of the problem. We conducted a prospective study comparing the rates of detection for clinically important fungi (CIF), defined as Aspergillus , Scedosporium , and Trichosporon species and Exophiala dermatitidis , in CF sputa using standard bacterial and selective fungal culture media, including Sabouraud dextrose agar with gentamicin (SDA), inhibitory mold agar (IMA), and brain heart infusion (BHI) agar with chloramphenicol and gentamicin. We described the prevalence of these fungi in an adult CF population. A total of 487 CF respiratory samples were collected from 211 unique participants. CIF were detected in 184 (37.8%) samples. Only 26.1% of CIF-positive samples were detected in bacterial culture medium, whereas greater rates of detection for fungi were found in IMA (65.8%; P culture media and longer incubation periods yielded higher rates of detection for CIF in CF sputum samples compared with that detected in bacterial culture medium, resulting in an underdetection of fungi by bacterial culture alone. The prevalence of fungi in CF may be better estimated by using selective fungal culture media, and this may translate to important clinical decisions. Copyright © 2017 American Society for Microbiology.

  18. 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 various paraclinical parameters in the diagnosis of ABPA in patients with CF....

  19. The expression of Mirc1/Mir17-92 cluster in sputum samples correlates with pulmonary exacerbations in cystic fibrosis patients.

    Science.gov (United States)

    Krause, Kathrin; Kopp, Benjamin T; Tazi, Mia F; Caution, Kyle; Hamilton, Kaitlin; Badr, Asmaa; Shrestha, Chandra; Tumin, Dmitry; Hayes, Don; Robledo-Avila, Frank; Hall-Stoodley, Luanne; Klamer, Brett G; Zhang, Xiaoli; Partida-Sanchez, Santiago; Parinandi, Narasimham L; Kirkby, Stephen E; Dakhlallah, Duaa; McCoy, Karen S; Cormet-Boyaka, Estelle; Amer, Amal O

    2017-12-11

    Cystic fibrosis (CF) is a multi-organ disorder characterized by chronic sino-pulmonary infections and inflammation. Many patients with CF suffer from repeated pulmonary exacerbations that are predictors of worsened long-term morbidity and mortality. There are no reliable markers that associate with the onset or progression of an exacerbation or pulmonary deterioration. Previously, we found that the Mirc1/Mir17-92a cluster which is comprised of 6 microRNAs (Mirs) is highly expressed in CF mice and negatively regulates autophagy which in turn improves CF transmembrane conductance regulator (CFTR) function. Therefore, here we sought to examine the expression of individual Mirs within the Mirc1/Mir17-92 cluster in human cells and biological fluids and determine their role as biomarkers of pulmonary exacerbations and response to treatment. Mirc1/Mir17-92 cluster expression was measured in human CF and non-CF plasma, blood-derived neutrophils, and sputum samples. Values were correlated with pulmonary function, exacerbations and use of CFTR modulators. Mirc1/Mir17-92 cluster expression was not significantly elevated in CF neutrophils nor plasma when compared to the non-CF cohort. Cluster expression in CF sputum was significantly higher than its expression in plasma. Elevated CF sputum Mirc1/Mir17-92 cluster expression positively correlated with pulmonary exacerbations and negatively correlated with lung function. Patients with CF undergoing treatment with the CFTR modulator Ivacaftor/Lumacaftor did not demonstrate significant change in the expression Mirc1/Mir17-92 cluster after six months of treatment. Mirc1/Mir17-92 cluster expression is a promising biomarker of respiratory status in patients with CF including pulmonary exacerbation. Published by Elsevier B.V.

  20. Monocyte Subsets in Schistosomiasis Patients with Periportal Fibrosis

    Directory of Open Access Journals (Sweden)

    Jamille Souza Fernandes

    2014-01-01

    Full Text Available A major issue with Schistosoma mansoni infection is the development of periportal fibrosis, which is predominantly caused by the host immune response to egg antigens. Experimental studies have pointed to the participation of monocytes in the pathogenesis of liver fibrosis. The aim of this study was to characterize the subsets of monocytes in individuals with different degrees of periportal fibrosis secondary to schistosomiasis. Monocytes were classified into classical (CD14++CD16−, intermediate (CD14++CD16+, and nonclassical (CD14+CD16++. The expressions of monocyte markers and cytokines were assessed using flow cytometry. The frequency of classical monocytes was higher than the other subsets. The expression of HLA-DR, IL-6, TNF-α, and TGF-β was higher in monocytes from individuals with moderate to severe fibrosis as compared to other groups. Although no differences were observed in receptors expression (IL-4R and IL-10R between groups of patients, the expression of IL-12 was lower in monocytes from individuals with moderate to severe fibrosis, suggesting a protective role of this cytokine in the development of fibrosis. Our data support the hypothesis that the three different monocyte populations participate in the immunopathogenesis of periportal fibrosis, since they express high levels of proinflammatory and profibrotic cytokines and low levels of regulatory markers.

  1. What Deficits in Sexual and Reproductive Health Knowledge Exist among Women with Cystic Fibrosis? A Systematic Review

    Science.gov (United States)

    Gage, L. Ashley

    2012-01-01

    The life span of patients with cystic fibrosis (CF) continues to extend due to advances in treatments and care. The rate of pregnancy for female patients with CF has also continued to rise. The purpose of this study was to systematically review the available literature on female patients with CF and their knowledge of sexual and reproductive…

  2. Long term follow-up of a tobacco prevention and cessation program in cystic fibrosis patients.

    Science.gov (United States)

    Ortega-García, Juan Antonio; Perales, Joseph E; Cárceles-Álvarez, Alberto; Sánchez-Sauco, Miguel Felipe; Villalona, Seiichi; Mondejar-López, Pedro; Pastor-Vivero, María Dolores; Mira Escolano, Pilar; James-Vega, Diana Carolina; Sánchez-Solís, Manuel

    2016-03-02

    This study evaluates the impact over time of a telephone-based intervention in tobacco cessation and prevention targeting patients with cystic fibrosis (CF) in the Mediterranean region of Murcia, Spain. We conducted an experimental prospective study with a cohort of CF patients using an integrative smoking cessation programme, between 2008 and 2013. The target population included family members and patients from the Regional CF unit. The study included an initial tobacco exposure questionnaire, measurement of lung function, urinary cotinine levels, anthropomorphic measures and the administered intervention at specific time intervals. Of the 88 patients tracked through follow-up, active smoking rates were reduced from 10.23% to 4.55% (p = 0.06). Environmental tobacco exposure was reduced in non-smoker patients from 62.03% to 36.90% (p < 0.01) during the five year follow-up. Significant reductions in the gradient of household tobacco smoke exposure were also observed with a decrease of 12.60%, from 31.65% (n = 25/79) to 19.05% (n = 16/84) in 2013 (p = <0.01). Cotinine was significantly correlated with both active and passive exposure (p<0.01) with a significant reduction of cotinine levels from 63.13 (28.58-97.69) to 20.56 (0.86-40.27) ng/ml (p<0.01). The intervention to significantly increase the likelihood of family quitting (smoke-free home) was 1.26 (1.05-1.54). Telephone based interventions for tobacco cessation and prevention is a useful tool when applied over time. Trained intervention professionals in this area are needed in the environmental health approach for the treatment of CF.

  3. 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.

  4. Comparison of Nutrition and Lung Function Outcomes in Patients with Cystic Fibrosis Living in Canada and the United States.

    Science.gov (United States)

    Goss, Christopher H; Sykes, Jenna; Stanojevic, Sanja; Marshall, Bruce; Petren, Kristofer; Ostrenga, Josh; Fink, Aliza; Elbert, Alexander; Quon, Bradley S; Stephenson, Anne L

    2018-03-15

    A 10-year gap in the median age of survival for patients with cystic fibrosis (CF) was reported between patients living in Canada compared with patients living in the United States. Because both malnutrition and poor lung function are associated with an increased risk of mortality in CF, we investigated the temporal and longitudinal trends in lung function and nutrition between Canada and the United States. This cohort study used Canadian CF Registry and U.S. CF Foundation Patient Registry data from 1990 to 2013. A unified dataset was created to harmonize the variables collected within the two registries for the purpose of comparing outcomes between the two countries. We conducted three analyses: survival differences by birth cohort; population trends for FEV 1 and body mass index (BMI) over time; and individual patient FEV 1 and BMI trajectories. The study included a total of 37,772 patients in the United States and 5,149 patients in Canada. Patients with CF experienced significant improvements in nutritional status and lung function in both Canada and the United States during the study. In addition, the survival gap between the two countries is narrowing within younger birth cohorts. The improvements for the patients within the United States were most prominent in the BMI trajectories, where patients born after 1990 in the United States have higher BMI that has persisted over time. The reasons for the observed improvements, and catch-up in the United States, are likely multifactorial and include the introduction of high-fat, high-calorie diets; introduction of newborn screening; and/or improved access to care for CF children in the United States.

  5. Evaluation of bone mineral density in cystic fibrosis patients

    Directory of Open Access Journals (Sweden)

    Jessica Cemlyn-Jones

    2008-09-01

    Full Text Available Patients with cystic fibrosis (CF have an increasing life span and osteoporosis has become a more recognised problem in these patients. The pathogenesis of low bone mineral density (BMD in CF seems to be multifactorial and the aim of this study was to assess the prevalence of low BMD in a group of CF outpatients and to relate the findings with the variables studied.The study included 22 patients aged between 14 and 45 years (mean age 26.3. Two of the subjects were lung transplant patients. BMD was assessed by dualenergy X-ray absorptiometry (DEXA at the lumbar spine (LS and femoral neck (FN. This data was correlated with serum 25-hydroxy vitamin D (25-OHD levels, BMI and the forced expiratory volume in one second (FEV1.BMD (Z-score and T-score ranged from 0.6 to -6 and from 0.5 to -6.7 at LS; at FN the scores ranged from 0.6 to -3.9 and from 0.6 to -4.1. The mean serum 25-OHD concentration (12,57 ng/ml was at the low end of the normal range (10-60 ng/ml. On average patients did not present with malnutrition, however BMI ranged from 15.2 to 33.7 kg/m2. Lung function status was assessed by FEV1; 64% of patients had FEV1 below 80% and within this group four patients had a FEV1 under 40%.There was a positive correlation between low BMD and 25-OHD concentrations and also between BMD and FEV1. There was no linear correlation between BMD and BMI. Resumo: A esperança de vida dos doentes com fibrose quística (FQ tem vindo a aumentar, sendo mais frequente a identificação de osteoporose. A patogénese de uma baixa densidade mineral óssea (DMO na FQ parece ser multifactorial e o objectivo deste trabalho foi avaliar a prevalência de baixa DMO num grupo de doentes com FQ e a sua correlação com outros parâmetros avaliados.O estudo incluiu 22 doentes com FQ com idades compreendidas entre os 14 e os 45 anos (média 26,3, dois dos quais transplantados pulmonares. A DMO foi avaliada por densitometria óssea ao nível da coluna lombar e do colo do f

  6. Radiation-induced neck fibrosis in patients with nasopharyngeal carcinoma

    International Nuclear Information System (INIS)

    Li Jian; Wang Rensheng; Gan Langge; Liu Wenqi; Zhang Yong

    2005-01-01

    Objective: To investigate the post-irradiation neck fibrosis in patients with nasopharyngeal carcinoma and its related factors. Methods: A total of 267 patients received conventional fractionated radiotherapy with D T 50-72 Gy on the neck a half year to 10 years ago were observed for the changes of cervical shape and functions. Results: Different degrees of post-irradiation neck fibrosis were seen in all patients. The rate of heavy degree of neck radiation fibrosis was 24.34 %, and it was 2.74% when received preventive dose on the neck. There was a very significant difference between patients who received late course of tangential irradiation on the neck and those who didn't receive (P=0.0001). The incidence of post-irradiation neck fibrosis didn't increase when patients received radiotherapy combined with chemotherapy (P=0.2678). The function of cervical muscles turned weak in patients received radiotherapy delivered by 6 MV accelerator in late course of tangential irradiation, whereas skin damage was severer in patients treated with 60 Co γ-rays. Conclusions: The incidence of heavy degree of post-irradiation neck fibrosis is high ,and is related closely to late course of tangential irradiation. The authors should avoid adopting this sort of irradiation on the neck. (authors)

  7. Pulmonary tuberculosis in patients with idiopathic pulmonary fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Chung, Myung Jin; Goo, Jin Mo E-mail: jmgoo@plaza.snu.ac.kr; Im, Jung-Gi

    2004-11-01

    Objectives: Patients with idiopathic pulmonary fibrosis (IPF) have an increased risk of pulmonary tuberculosis. However, detecting pulmonary tuberculosis may be difficult due to the underlying fibrosis. The aim of this report is to describe the radiological and clinical findings of pulmonary tuberculosis in patients with idiopathic pulmonary fibrosis. Materials and methods: We reviewed 143 consecutive patients in whom IPF was diagnosed by either the histological or radio-clinical criteria. Among them, nine patients were histologically (n=2) or bacteriologically (n=7) confirmed to have active pulmonary tuberculosis. The location and patterns of pulmonary tuberculosis were examined on a thin section CT scan. Results: The most common thin section CT findings were subpleural nodules (n=6; mean diameter, 3.2 cm) and a lobar or segmental consolidation (n=3). The lesions were located most commonly in the right lower lobe (n=4). The incidence of tuberculosis in patients with idiopathic pulmonary fibrosis was more than five times higher than that of the general population. Conclusion: The atypical manifestation of pulmonary tuberculosis is common in patients with idiopathic pulmonary fibrosis, which may mimic lung cancer or bacterial pneumonia.

  8. Pulmonary tuberculosis in patients with idiopathic pulmonary fibrosis

    International Nuclear Information System (INIS)

    Chung, Myung Jin; Goo, Jin Mo; Im, Jung-Gi

    2004-01-01

    Objectives: Patients with idiopathic pulmonary fibrosis (IPF) have an increased risk of pulmonary tuberculosis. However, detecting pulmonary tuberculosis may be difficult due to the underlying fibrosis. The aim of this report is to describe the radiological and clinical findings of pulmonary tuberculosis in patients with idiopathic pulmonary fibrosis. Materials and methods: We reviewed 143 consecutive patients in whom IPF was diagnosed by either the histological or radio-clinical criteria. Among them, nine patients were histologically (n=2) or bacteriologically (n=7) confirmed to have active pulmonary tuberculosis. The location and patterns of pulmonary tuberculosis were examined on a thin section CT scan. Results: The most common thin section CT findings were subpleural nodules (n=6; mean diameter, 3.2 cm) and a lobar or segmental consolidation (n=3). The lesions were located most commonly in the right lower lobe (n=4). The incidence of tuberculosis in patients with idiopathic pulmonary fibrosis was more than five times higher than that of the general population. Conclusion: The atypical manifestation of pulmonary tuberculosis is common in patients with idiopathic pulmonary fibrosis, which may mimic lung cancer or bacterial pneumonia

  9. Effects of Pilates mat exercises on muscle strength and on pulmonary function in patients with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Caroline Buarque Franco

    2014-10-01

    Full Text Available OBJECTIVE: To analyze the effects of Pilates mat exercises in patients with cystic fibrosis (CF. METHODS: This was a clinical trial involving 19 CF patients recruited from either the CF Outpatient Clinic of the State University at Campinas Hospital de Clínicas or the Children's Institute of the University of São Paulo School of Medicine Hospital das Clínicas. All of the patients performed Pilates mat exercises for four months (one 60-min session per week. The variables studied (before and after the intervention were respiratory muscle strength, MIP, MEP, FVC, and FEV1. RESULTS: After the intervention, MIP was significantly higher in the male patients (p = 0.017, as were MIP and MEP in the female patients (p = 0.005 and p = 0.007, respectively. There were no significant differences between the pre- and post-intervention values of FVC or FEV1, neither in the sample as a whole nor among the patients of either gender. CONCLUSIONS: Our results show that Pilates mat exercises have beneficial effects on respiratory muscle strength in CF patients.

  10. Effects of Pilates mat exercises on muscle strength and on pulmonary function in patients with cystic fibrosis*

    Science.gov (United States)

    Franco, Caroline Buarque; Ribeiro, Antonio Fernando; Morcillo, André Moreno; Zambon, Mariana Porto; Almeida, Marina Buarque; Rozov, Tatiana

    2014-01-01

    OBJECTIVE: To analyze the effects of Pilates mat exercises in patients with cystic fibrosis (CF). METHODS: This was a clinical trial involving 19 CF patients recruited from either the CF Outpatient Clinic of the State University at Campinas Hospital de Clínicas or the Children's Institute of the University of São Paulo School of Medicine Hospital das Clínicas. All of the patients performed Pilates mat exercises for four months (one 60-min session per week). The variables studied (before and after the intervention) were respiratory muscle strength, MIP, MEP, FVC, and FEV1. RESULTS: After the intervention, MIP was significantly higher in the male patients (p = 0.017), as were MIP and MEP in the female patients (p = 0.005 and p = 0.007, respectively). There were no significant differences between the pre- and post-intervention values of FVC or FEV1, neither in the sample as a whole nor among the patients of either gender. CONCLUSIONS: Our results show that Pilates mat exercises have beneficial effects on respiratory muscle strength in CF patients. PMID:25410840

  11. An exploratory study of microbial diversity in sinus infections of cystic fibrosis patients by molecular methods

    DEFF Research Database (Denmark)

    Rudkjøbing, Vibeke Børsholt; Aanaes, Kasper; Wolff, Tine Yding

    2014-01-01

    BACKGROUND: For the first time microorganisms in CF sinuses are investigated by molecular methods in response to an absence of anaerobes in CF sinus samples during a two-year period at the Copenhagen CF center. METHODS: Endoscopic sinus surgery was performed in 19 CF patients. DNA from intact...

  12. "No Time to Play": Perceptions toward Physical Activity in Youth with Cystic Fibrosis

    Science.gov (United States)

    Moola, Fiona; Faulkner, Guy E. J.; Schneiderman, Jane E.

    2012-01-01

    Although physical activity may reduce lung function decline in youth with cystic fibrosis (CF), most patients are inactive. Little is known about why youth with CF are inactive or how to facilitate physical activity. This study explored perceptions toward physical activity in 14 youth with CF at a Canadian Hospital. Qualitative interviews were…

  13. IgA and IgG antibodies against surface antigens of Pseudomonas aeruginosa in sputum and serum from patients with cystic fibrosis.

    Science.gov (United States)

    Schiøtz, P O; Høiby, N; Permin, H; Wiik, A

    1979-06-01

    Eleven cystic fibrosis (CF) patients chronically infected in the lungs with mucoid Pseudomonas aeruginosa and presenting multiple precipitins in serum against this bacterium (CF + P) and 10 CF patients without P. aeruginosa infection (CF-P) had their serum and sputum sol phase specimens examined for antibodies of the IgA and IgG classes against surface antigens of P. aeruginosa by means of an indirect immunofluorescence technique. Both the IgA and IgG antibody titres demonstrated in serum and sputum of the CF + P patients were significantly higher than in those of the CF-P patients (p less than 0.01). The titre of IgA antibodies in the sputum was higher than in serum in 3 cases indicating local pulmonary production of specific IgA antibodies. The role of the demonstrated antibodies in the local pulmonary immune defense mechanisms and the possible patogenesis of the pulmonary tissue damage in CF patients is discussed.

  14. Antibiotic treatment of CF lung disease: from bench to bedside.

    Science.gov (United States)

    Bals, Robert; Hubert, Dominique; Tümmler, Burkhard

    2011-06-01

    Chronic infection of the respiratory tract is a hallmark of cystic fibrosis (CF). Antibiotic treatment has been used as one of the mainstays of therapy and together with other treatment modalities has resulted in increased survival of CF patients. Increasing resistance of CF-specific pathogens to various classes of antibiotics explains the need for novel antibiotic strategies. This review focuses on the future development of new antibiotic therapies, including: (1) New targets, (2) novel antibiotic regimens in CF, (3) new antibiotics, and (4) other investigational therapies. In addition, we briefly summarize developments in the area of microbial diagnostics and discuss interactions between the complex pulmonary microflora. Copyright © 2011 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  15. [Early manifestations of cystic fibrosis in a premature patient with complex meconium ileus at birth].

    Science.gov (United States)

    del Ciampo, Ieda Regina Lopes; Oliveira, Tainara Queiroz; del Ciampo, Luiz Antonio; Sawamura, Regina; Torres, Lidia Alice Gomes Monteiro Marin; Augustin, Albin Eugenio; Fernandes, Maria Inez Machado

    2015-01-01

    To report a case of a preterm infant with complex meconium ileus at birth and cystic fibrosis. A male infant was born by vaginal delivery at 33 weeks and 5 days of gestational age with respiratory distress and severe abdominal distension. The exploratory laparotomy in the first day of life identified meconium ileus and secondary peritonitis. Ileal resection and ileostomy were performed, followed by reconstruction of the bowel transit at 20 days of life. At 11 days of life, the first immunoreactive trypsinogen (IRT) was 154 ng/mL (reference value=70), and oral pancreatic enzymes replacement therapy was started. After 23 days, the second IRT was 172 ng/mL (reference value=70). At 35 days of age he was discharged with referrals to primary care and to a special clinic for CF for the determination of sweat chloride. He was received in the outpatient clinic for neonatal screening for CF at 65 days of life presenting malnutrition and respiratory distress. The sweat chloride test was performed, with a positive result (126mEq/L). This case illustrates the rapid evolution of CF in a premature patient with complex Meconium ileus as the first clinical manifestation. Copyright © 2015 Associação de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  16. Social/economic costs and health-related quality of life in patients with cystic fibrosis in Europe.

    Science.gov (United States)

    Chevreul, Karine; Michel, Morgane; Brigham, Karen Berg; López-Bastida, Julio; Linertová, Renata; Oliva-Moreno, Juan; Serrano-Aguilar, Pedro; Posada-de-la-Paz, Manuel; Taruscio, Domenica; Schieppati, Arrigo; Iskrov, Georgi; Péntek, Márta; von der Schulenburg, Johann Matthias Graf; Kanavos, Panos; Persson, Ulf; Fattore, Giovani

    2016-04-01

    Our goal was to provide data on the economic burden and health-related quality of life (HRQOL) of patients with cystic fibrosis (CF) and their caregivers in Europe. A cross-sectional study was carried out on adults and children with CF in eight European countries. Patients completed an anonymous questionnaire regarding their socio-demographic characteristics, use of healthcare services and presence of a caregiver. Costs were calculated with a bottom-up approach using unit costs from each participating country, and HRQOL was assessed using EQ-5D. The principal caregiver also answered a questionnaire on their characteristics, HRQOL and burden. A total of 905 patients with CF was included (399 adults and 506 children). The total average annual cost per patient varied from €21,144 in Bulgaria to €53,256 in Germany. Adults had higher direct healthcare costs than children, but children had much higher informal care costs (P costs increased with patients' level of dependence. In adults, mean utility fell between 0.640 and 0.870, and the visual analogue scale ranged from 46.0 to 69.7. There was no difference in caregiver HRQOL regardless of whether they cared for an adult or a child. However, caregivers who looked after a child had a significantly higher burden (P = 0.0013). Our study highlights the burden of CF in terms of costs and decreased HRQOL for both patients and their caregivers throughout Europe.

  17. Intestinal pH and gastrointestinal transit profiles in cystic fibrosis patients measured by wireless motility capsule.

    Science.gov (United States)

    Gelfond, Daniel; Ma, Changxing; Semler, Jack; Borowitz, Drucy

    2013-08-01

    The effect of the cystic fibrosis transmembrane conductance regulator protein (CFTR) defect in pancreatic insufficient (PI) patients with cystic fibrosis (CF) on the gastrointestinal pH profile is poorly defined. Adequate and efficient neutralization of the gastric acidity in the duodenum is important for nutrient absorption and timely release of pancreatic enzyme replacement therapy (PERT). We utilized a wireless motility capsule (WMC) to study intestinal pH profile and gastrointestinal transit profile in CF subjects. WMC studies were done on ten adult CF patients with PI while off acid suppression medication and ten age, gender and BMI matched healthy controls. Mean pH over 1 min increments and area under the pH curve over 5 min increments was calculated for the first hour post gastric emptying. Paired t-test was used to compare means of the pH recordings, transit profiles and analysis of time interval required to reach and maintain pH >5.5 and 6.0. A statistically significant difference was observed between mean pH values during the first 23 min of small bowel transit (p pH 5.5 and pH 6.0 (p < 0.001), which is required for PERT dissolution. Only small bowel transit in CF subjects was noted to be significantly delayed (p = 0.004) without a compensatory increase in whole gut transit time. We have demonstrated a significant delay in the small intestinal transit and a deficient buffering capacity required to neutralize gastric acid in the proximal small bowel of patients with CF.

  18. Impaired lung diffusing capacity for nitric oxide and alveolar-capillary membrane conductance results in oxygen desaturation during exercise in patients with cystic fibrosis.

    Science.gov (United States)

    Wheatley, Courtney M; Foxx-Lupo, William T; Cassuto, Nicholas A; Wong, Eric C; Daines, Cori L; Morgan, Wayne J; Snyder, Eric M

    2011-01-01

    Exercise has been shown to be beneficial for patients with cystic fibrosis (CF), but for some CF patients there is a risk of desaturation, although the predicting factors are not conclusive or reliable. We sought to determine the relationship between the diffusion capacity of the lungs for nitric oxide and carbon monoxide (DLNO and DLCO) and the components of DLCO: alveolar-capillary membrane conductance (D(M)), and pulmonary capillary blood volume (V(C)) on peripheral oxygen saturation (SaO(2)) at rest and during exercise in CF. 17 mild/moderate CF patients and 17 healthy subjects were recruited (age=26±7 vs. 23±8 years, ht=169±8 vs. 166±8 cm, wt=65±9 vs. 59±8 kg, BMI=23±3 vs. 22±3 kg/m(2), VO(2PEAK)=101±36 vs. 55±25%pred., FEV(1)=92±22 vs. 68±25%pred., for healthy and CF, respectively, mean±SD, VO(2PEAK) and FEV(1) pincremental cycle ergometry to exhaustion with continuous monitoring of SaO(2) and measures of DLNO, DLCO, D(M) and V(C) at each stage. CF patients had a lower SaO(2) at rest and peak exercise (rest=98±1 vs. 96±1%, peak=97±2 vs. 93±5%, for healthy and CF, respectively, pconductance in CF which may contribute to a drop in SaO(2) and that resting DLNO can account for a large portion of the variability in SaO(2). Copyright © 2010 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  19. Cystic Fibrosis

    Science.gov (United States)

    ... fixing the CFTR protein. Learn more Living with Cystic Fibrosis A diagnosis of CF is life changing for a family. However, in the last 2 to 3 decades, significant strides have been made so that children born ... Doctor about Cystic Fibrosis Making notes before your visit, as well as ...

  20. Cystic fibrosis-related diabetes

    DEFF Research Database (Denmark)

    Andersen, Henrik Ullits; Lanng, Susanne; Pressler, Tania

    2006-01-01

    OBJECTIVE: Cystic fibrosis (CF)-related diabetes has been regarded as a mild form of diabetes with a low risk of severe diabetes complications. The prevalence of CF-related diabetes increases with age, resulting in a 50% prevalence of diabetes at age 30 years. We sought to investigate whether...... microvascular complications in CF-related diabetes appear with a relevant frequency. RESEARCH DESIGN AND METHODS: Thirty-eight patients aged 30 (range 18-55) years with CF-related diabetes for 20 (0-31) years were screened for diabetes complications. Because of chronic pulmonary infections, the majority...... of diabetic retinopathy was found in patients with insulin-treated CF-related diabetes, stressing the need for a regular screening program as in type 1 diabetes. Severely impaired kidney function was common in lung transplant patients, probably secondary to cyclosporine treatment....

  1. TINF2 Gene Mutation in a Patient with Pulmonary Fibrosis

    Directory of Open Access Journals (Sweden)

    T. W. Hoffman

    2016-01-01

    Full Text Available Pulmonary fibrosis is a frequent manifestation of telomere syndromes. Telomere gene mutations are found in up to 25% and 3% of patients with familial disease and sporadic disease, respectively. The telomere gene TINF2 encodes an eponymous protein that is part of the shelterin complex, a complex involved in telomere protection and maintenance. A TINF2 gene mutation was recently reported in a family with pulmonary fibrosis. We identified a heterozygous Ser245Tyr mutation in the TINF2 gene of previously healthy female patient that presented with progressive cough due to pulmonary fibrosis as well as panhypogammaglobulinemia at age 52. Retrospective multidisciplinary evaluation classified her as a case of possible idiopathic pulmonary fibrosis. Telomere length-measurement indicated normal telomere length in the peripheral blood compartment. This is the first report of a TINF2 mutation in a patient with sporadic pulmonary fibrosis, which represents another association between TINF2 mutations and this disease. Furthermore, this case underlines the importance of telomere dysfunction and not telomere length alone in telomere syndromes and draws attention to hypogammaglobulinemia as a manifestation of telomere syndromes.

  2. Evaluation of Medication-related Self-care Skills in Patients With Cystic Fibrosis.

    Science.gov (United States)

    Lewis, Kelsey Lackey; John, Barnabas; Condren, Michelle; Carter, Sandra M

    2016-01-01

    BACKGROUND: As the life expectancy of patients with cystic fibrosis (CF) increases, the focus on ensuring success with medication therapies is increasingly important. The ability of patients to autonomously manage medications and related therapies is poorly described in the literature. OBJECTIVE: The goal of this project was to assess the level of medication-related knowledge and self-care skills in patients with CF. METHODS: This project took place in a Cystic Fibrosis Foundation accredited affiliate center. Eighty-nine patients between the ages of 6 and 60 were eligible to participate based on inclusion and exclusion criteria. Pharmacists administered a 16-item questionnaire and detailed medication history during clinic visits from January through May 2014. RESULTS: Forty-five patients 6 to 41 years old participated in the study. The skills most often performed independently were preparing nebulizer treatments (85%) and telling someone if they feel their medicines are causing a problem (89%). Skills least often performed were carrying a medication list (82%) and bringing a medication list to appointments (76%). In respondents 21 years of age and older, less than 75% of respondents were involved with obtaining financial resources, maintaining equipment, carrying a medication list, or rinsing their mouth after using inhaled medicines. Participants were able to provide drug name, dose, and frequency of use for pancreatic enzymes and azithromycin 37% and 24% of the time, respectively. CONCLUSIONS: In the population surveyed, many medication-related skills had not been acquired by early adulthood. Assessing and providing education for medication-related self-care skills at all ages are needed.

  3. Impaired Functions of Macrophage from Cystic Fibrosis Patients: CD11b, TLR-5 Decrease and sCD14, Inflammatory Cytokines Increase

    Science.gov (United States)

    Simonin-Le Jeune, Karin; Le Jeune, André; Jouneau, Stéphane; Belleguic, Chantal; Roux, Pierre-François; Jaguin, Marie; Dimanche-Boitre, Marie-Thérèse; Lecureur, Valérie; Leclercq, Caroline; Desrues, Benoît; Brinchault, Graziella; Gangneux, Jean-Pierre; Martin-Chouly, Corinne

    2013-01-01

    Background Early in life, cystic fibrosis (CF) patients are infected with microorganisms. The role of macrophages has largely been underestimated in literature, whereas the focus being mostly on neutrophils and epithelial cells. Macrophages may however play a significant role in the initiating stages of this disease, via an inability to act as a suppressor cell. Yet macrophage dysfunction may be the first step in cascade of events leading to chronic inflammation/infection in CF. Moreover, reports have suggested that CFTR contribute to altered inflammatory response in CF by modification of normal macrophage functions. Objectives In order to highlight possible intrinsic macrophage defects due to impaired CFTR, we have studied inflammatory cytokines secretions, recognition of pathogens and phagocytosis in peripheral blood monocyte-derived macrophages from stable adult CF patients and healthy subjects (non-CF). Results In CF macrophage supernatants, concentrations of sCD14, IL-1β, IL-6, TNF-α and IL-10 were strongly raised. Furthermore expression of CD11b and TLR-5 were sorely decreased on CF macrophages. Beside, no difference was observed for mCD14, CD16, CD64, TLR-4 and TLR1/TLR-2 expressions. Moreover, a strong inhibition of phagocytosis was observed for CF macrophages. Elsewhere CFTR inhibition in non-CF macrophages also led to alterations of phagocytosis function as well as CD11b expression. Conclusions Altogether, these findings demonstrate excessive inflammation in CF macrophages, characterized by overproduction of sCD14 and inflammatory cytokines, with decreased expression of CD11b and TLR-5, and impaired phagocytosis. This leads to altered clearance of pathogens and non-resolution of infection by CF macrophages, thereby inducing an exaggerated pro-inflammatory response. PMID:24098711

  4. Emphysema Is Common in Lungs of Cystic Fibrosis Lung Transplantation Patients: A Histopathological and Computed Tomography Study.

    Directory of Open Access Journals (Sweden)

    Onno M Mets

    Full Text Available Lung disease in cystic fibrosis (CF involves excessive inflammation, repetitive infections and development of bronchiectasis. Recently, literature on emphysema in CF has emerged, which might become an increasingly important disease component due to the increased life expectancy. The purpose of this study was to assess the presence and extent of emphysema in endstage CF lungs.In explanted lungs of 20 CF patients emphysema was semi-quantitatively assessed on histology specimens. Also, emphysema was automatically quantified on pre-transplantation computed tomography (CT using the percentage of voxels below -950 Houndfield Units and was visually scored on CT. The relation between emphysema extent, pre-transplantation lung function and age was determined.All CF patients showed emphysema on histological examination: 3/20 (15% showed mild, 15/20 (75% moderate and 2/20 (10% severe emphysema, defined as 0-20% emphysema, 20-50% emphysema and >50% emphysema in residual lung tissue, respectively. Visually upper lobe bullous emphysema was identified in 13/20 and more diffuse non-bullous emphysema in 18/20. Histology showed a significant correlation to quantified CT emphysema (p = 0.03 and visual emphysema score (p = 0.001. CT and visual emphysema extent were positively correlated with age (p = 0.045 and p = 0.04, respectively.In conclusion, this study both pathologically and radiologically confirms that emphysema is common in end-stage CF lungs, and is age related. Emphysema might become an increasingly important disease component in the aging CF population.

  5. Sputum biomarkers and the prediction of clinical outcomes in patients with cystic fibrosis.

    Directory of Open Access Journals (Sweden)

    Theodore G Liou

    Full Text Available Lung function, acute pulmonary exacerbations (APE, and weight are the best clinical predictors of survival in cystic fibrosis (CF; however, underlying mechanisms are incompletely understood. Biomarkers of current disease state predictive of future outcomes might identify mechanisms and provide treatment targets, trial endpoints and objective clinical monitoring tools. Such CF-specific biomarkers have previously been elusive. Using observational and validation cohorts comprising 97 non-transplanted consecutively-recruited adult CF patients at the Intermountain Adult CF Center, University of Utah, we identified biomarkers informative of current disease and predictive of future clinical outcomes. Patients represented the majority of sputum producers. They were recruited March 2004-April 2007 and followed through May 2011. Sputum biomarker concentrations were measured and clinical outcomes meticulously recorded for a median 5.9 (interquartile range 5.0 to 6.6 years to study associations between biomarkers and future APE and time-to-lung transplantation or death. After multivariate modeling, only high mobility group box-1 protein (HMGB-1, mean=5.84 [log ng/ml], standard deviation [SD] =1.75 predicted time-to-first APE (hazard ratio [HR] per log-unit HMGB-1=1.56, p-value=0.005, number of future APE within 5 years (0.338 APE per log-unit HMGB-1, p<0.001 by quasi-Poisson regression and time-to-lung transplantation or death (HR=1.59, p=0.02. At APE onset, sputum granulocyte macrophage colony stimulating factor (GM-CSF, mean 4.8 [log pg/ml], SD=1.26 was significantly associated with APE-associated declines in lung function (-10.8 FEV(1% points per log-unit GM-CSF, p<0.001 by linear regression. Evaluation of validation cohorts produced similar results that passed tests of mutual consistency. In CF sputum, high HMGB-1 predicts incidence and recurrence of APE and survival, plausibly because it mediates long-term airway inflammation. High APE-associated GM

  6. Effect of probiotics on respiratory, gastrointestinal and nutritional outcomes in patients with cystic fibrosis: A systematic review.

    Science.gov (United States)

    Anderson, Jacqueline L; Miles, Caitlin; Tierney, Audrey C

    2017-03-01

    An increasing body of research investigating the use of probiotics to improve health outcomes in patients with cystic fibrosis (CF) prompted the need to systematically assess and summarise the relevant literature. An electronic search of five databases and three trial databases was conducted. Studies describing the administration of probiotics to patients with CF older than 2years, with a comparator group on respiratory, gastrointestinal and nutritional outcomes were included. Three pre-post studies and six randomised controlled trials met the inclusion criteria. Overall studies showed a positive effect of probiotics on reducing the number of pulmonary exacerbations and decreasing gastrointestinal inflammation. There was limited effect of probiotics on other outcomes and inadequate evidence for the effects of specific probiotic species and strains. The findings suggest that probiotics may improve respiratory and gastrointestinal outcomes in a stable CF clinic population with no reported evidence of harm. There is inadequate evidence at this time to recommend a specific species, strain or dose of probiotic as likely to be of significant benefit. Copyright © 2016 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  7. Management of comorbidities in older patients with cystic fibrosis.

    Science.gov (United States)

    Plant, Barry J; Goss, Christopher H; Plant, William D; Bell, Scott C

    2013-04-01

    Several key advances have been made in the treatment and management of people with cystic fibrosis in the past two decades. Substantial improvements in survival have resulted from the introduction of key drugs, coordinated care packages, improved nutritional support, and the intensive use of antibiotics. The age profile of people with cystic fibrosis has changed greatly during this time-some countries now have more adult than paediatric patients with the disease. With their increasing age and more advanced lung disease, several important sequelae (both pulmonary and extrapulmonary) occur in these adult patients including pulmonary disease, cystic fibrosis-related diabetes, renal disease, metabolic bone disease, cancers, drug allergies and toxic effects, and complications associated with lung transplantation. Copyright © 2013 Elsevier Ltd. All rights reserved.

  8. Longitudinal survey of Staphylococcus aureus in cystic fibrosis patients using a multiple-locus variable-number of tandem-repeats analysis method

    OpenAIRE

    Vergnaud Gilles; Moissenet Didier; Corvol Harriet; Fauroux Brigitte; Corbineau Gaëlle; Hormigos Katia; Vu-Thien Hoang; Pourcel Christine

    2010-01-01

    Abstract Background Staphylococcus aureus infection in patients with cystic fibrosis (CF) is frequent and may be due to colonization by a few pathogenic lineages. Systematic genotyping of all isolates, methicillin-susceptible S. aureus (MSSA) as well as methicillin-resistant S. aureus (MRSA) is necessary to identify such lineages and follow their evolution in patients. Multiple-locus variable-number tandem repeat analysis (MLVA/VNTR) was used to survey S. aureus clinical isolates in a French ...

  9. Allergic bronchopulmonary aspergillosis in Italian cystic fibrosis patients: Prevalence and percentage of positive tests in the employed diagnostic criteria

    International Nuclear Information System (INIS)

    Taccetti, Giovanni; Procopio, Elena; Marianelli, Lore; Campana, Silvia

    2000-01-01

    The prevalence of allergic bronchopulmonary aspergillosis (ABPA) in cystic fibrosis (CF) patients is difficult to determine because the data in the literature are not homogeneous or comparable. ABPA and CF have similar clinical symptoms which make diagnosis difficult and underestimate the real dimensions of the problem. We conducted an epidemiological study on 3089 Italian CF patients to determine the prevalence of ABPA in Italy and verify the percentage of positive tests in the employed diagnostic criteria. Our results indicate that the prevalence of ABPA in Italian CF patients is 6.18%, mainly in adolescents and young adults. ABPA is diagnosed using clinical symptoms (presence of episodic bronchial obstructions or typical radiographic features) and on the basis of other criteria which can only be partially fulfilled in paediatric patients. Among the diagnostic tests the most sensitive are the total IgE (84.5%), specific IgE anti-Aspergillus fumigatus (81.6%) and the prick test (68.3%). In the absence of clinical symptoms and gold standard diagnostic tests, serological positivity and/or the skin test are not sufficient evidence to confirm the presence of ABPA

  10. Photoacoustic analysis of the solubilization kinetics of pulmonary secretions from cystic fibrosis patients - secretor and non-secretor phenotypes

    Energy Technology Data Exchange (ETDEWEB)

    Barja, P R; Coelho, C C; Paiva, R F [Research and Development Institute, UNIVAP, Av. Shishima Hifumi 2911, Sao Jose dos Campos, SP (Brazil); Barboza, M A; Matos, L C; Matos, C C B [Faculty of Medicine of Sao Jose do Rio Preto (FAMERP), Sao Jose do Rio Preto, SP (Brazil); Oliveira, L V F, E-mail: barja@univap.b [Rehabilitation Sciences Master' s Program, Nove de Julho University (UNINOVE), Sao Paulo, SP (Brazil)

    2010-03-01

    Cystic fibrosis (CF) is an autosomal recessive inherited disease that increases viscoelasticity of pulmonary secretions. Affected patients are required to use therapeutic aerosols continuously. The expression of ABH glycoconjugates in exocrine secretions determines the nature of part of the carbohydrates present in these secretions, allowing the classification of individuals into the so-called 'secretor' and 'non secretor' phenotypes. The aim of this work was to employ photoacoustic (PA) measurements to monitor the solubilization kinetics of pulmonary secretions from CF patients, analyzing the influence of the secretor status in the solubilization kinetics of samples nebulized with different therapeutic aerosols. Sputum samples were obtained by spontaneous expectoration from positive and negative secretor CF patients. Each sample was nebulized with i) tobramycin, ii) alpha dornase, and iii) N-acetylcysteine in a PA cell; fitting of the data with the Boltzmann equation led to the determination of t{sub 0} (typical interaction time) and {Delta}t (solubilization interval) for each curve. Differences between the secretor and non-secretor phenotypes were statistically significant in the groups for tobramycin and alpha dornase, but not for N-acetylcysteine. Results show that the secretor status influences the solubilization of pulmonary mucus of CF patients nebulized with tobramycin and alpha dornase.

  11. Antibiotic therapy for stable non-CF bronchiectasis in adults

    DEFF Research Database (Denmark)

    Fjaellegaard, Katrine; Sin, Melda Dönmez; Browatzki, Andrea

    2017-01-01

    To provide an update on efficacy and safety of antibiotic treatments for stable non-cystic fibrosis (CF) bronchiectasis (BE). Systematic review based on the Preferred Reporting Items for Systematic reviews and Meta-Analyses guidelines was done. Twenty-six studies (1.898 patients) fulfilled...

  12. Program of home telemonitoring in patients with cystic fibrosis over a period of 2 years: a contribution to the rationalization of care.

    Science.gov (United States)

    Bella, S; Murgia, F; Cotognini, C; Alghisi, F; Montemitro, E

    2013-01-01

    In present study we tested the possible presence of a saving for Italian National Health Service (INHS) when using telemonitoring in the follow-up at home of patients with Cystic Fibrosis (CF), in the aim to assess the possible role of Telemedicine in rationalization of hospital admissions. We performed an economic analysis of the costs incurred by the INHS for patients with CF followed at home by telemonitoring, recalled to hospital under suspicion or diagnosis of acute pulmonary recurrence. We calculated, for 19 patients retrieved in the period of the study, a total saving compared to traditional home care of € 132.144,91 in 24 months, corresponding to € 3.303,62/year/patient. The presence of an economic advantage for the INHS is confirmed once again, although not significant. The data from this study are encouraging regarding the possible role of telemedicine in the organization of homecare of CF patients.

  13. Cystic fibrosis - nutrition

    Science.gov (United States)

    Cystic fibrosis (CF) is a life-threatening disease that causes thick, sticky mucus to build up in the ... Egan ME, Green DM, Voynow JA. Cystic fibrosis. In: Kliegman RM, ... of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap ...

  14. In vivo and in vitro ivacaftor response in cystic fibrosis patients with residual CFTR function: N-of-1 studies.

    Science.gov (United States)

    McGarry, Meghan E; Illek, Beate; Ly, Ngoc P; Zlock, Lorna; Olshansky, Sabrina; Moreno, Courtney; Finkbeiner, Walter E; Nielson, Dennis W

    2017-04-01

    Ivacaftor, a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator, decreases sweat chloride concentration, and improves pulmonary function in 6% of cystic fibrosis (CF) patients with specific CFTR mutations. Ivacaftor increases chloride transport in many other CFTR mutations in non-human cells, if CFTR is in the epithelium. Some CF patients have CFTR in the epithelium with residual CFTR function. The effect of ivacaftor in these patients is unknown. This was a series of randomized, crossover N-of-1 trials of ivacaftor and placebo in CF patients ≥8 years old with potential residual CFTR function (intermediate sweat chloride concentration, pancreatic sufficient, or mild bronchiectasis on chest CT). Human nasal epithelium (HNE) was obtained via nasal brushing and cultured. Sweat chloride concentration change was the in vivo outcome. Chloride current change in HNE cultures with ivacaftor was the in vitro outcome. Three subjects had decreased sweat chloride concentration (-14.8 to -40.8 mmol/L, P < 0.01). Two subjects had unchanged sweat chloride concentration. Two subjects had increased sweat chloride concentration (+23.8 and +27.3 mmol/L, P < 0.001); both were heterozygous for A455E and pancreatic sufficient. Only subjects with decreased sweat chloride concentration had increased chloride current in HNE cultures. Some CF patients with residual CFTR function have decreased sweat chloride concentration with ivacaftor. Increased chloride current in HNE cultures among subjects with decreased sweat chloride concentrations may predict clinical response to ivacaftor. Ivacaftor can increase sweat chloride concentration in certain mutations with unclear clinical effect. Pediatr Pulmonol. 2017;52:472-479. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  15. Virulence traits associated with Burkholderia cenocepacia ST856 epidemic strain isolated from cystic fibrosis patients

    Directory of Open Access Journals (Sweden)

    Milka Malešević

    2017-06-01

    Full Text Available Abstract Background Burkholderia cenocepacia is considered one of the most problematic cystic fibrosis (CF pathogens. Colonization prevalence in the Serbian CF population is high and virtually exclusively limited to a single highly transmissible clone of B. cenocepacia ST856 which is positive for both the B. cepacia epidemic strain marker (BCESM and cable pilin, and is closely related to the epidemic strain CZ1 (ST32. Methods Biofilm formation for 182 isolates, and adhesion to components of the host extracellular matrix, proteolytic activity, mucoidy and motility of selected ST856 representatives, as well as B. cenocepacia ST858 and ST859, and B. stabilis ST857, novel STs isolated from Serbian CF patients, were investigated in this study. The presence of the cepI, cepR, fliG, llpE, wbiI, and bcscV genes was analyzed. Results Biofilm-formation ability of analyzed strains was poor under standard laboratory conditions, but changed in stress conditions (cold stress and conditions that mimic CF milieu (increased CO2. All strains expressed ability to bind to collagen and fibronectin albeit with different intensity. Representatives of ST856 exhibited gelatinase activity. ST858, ST859 and 9/11 of ST856 genotypes were positive for swimming and twitching motility whereas ST857 was non-motile. Mucoidy was demonstrated in all ST856 genotypes, ST857 was semi-mucoid, and ST858 and ST859 were non-mucoid. Molecular analysis for major virulence factors revealed that ST856 and ST857 carried the six analyzed genes, while ST858 and ST859 were negative for the llpE gene. Conclusion Variations in virulence phenotypes in different genotypes of epidemic B. cenocepacia ST856 clone, in vitro, could be a consequence of diversification driven by pathoadaptation. Diversity of epidemic clone genotypes virulence, could be challenging for accurate diagnosis and treatment, as well as for infection control.

  16. Genomic Variation among Contemporary Pseudomonas aeruginosa Isolates from Chronically Infected Cystic Fibrosis Patients

    OpenAIRE

    Chung, Jade C. S.; Becq, Jennifer; Fraser, Louise; Schulz-Trieglaff, Ole; Bond, Nicholas J.; Foweraker, Juliet; Bruce, Kenneth D.; Smith, Geoffrey P.; Welch, Martin

    2012-01-01

    The airways of individuals with cystic fibrosis (CF) often become chronically infected with unique strains of the opportunistic pathogen Pseudomonas aeruginosa. Several lines of evidence suggest that the infecting P. aeruginosa lineage diversifies in the CF lung niche, yet so far this contemporary diversity has not been investigated at a genomic level. In this work, we sequenced the genomes of pairs of randomly selected contemporary isolates sampled from the expectorated sputum of three chron...

  17. Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.

    Science.gov (United States)

    Bosch, Barbara; Bilton, Diana; Sosnay, Patrick; Raraigh, Karen S; Mak, Denise Y F; Ishiguro, Hiroshi; Gulmans, Vincent; Thomas, Muriel; Cuppens, Harry; Amaral, Margarida; De Boeck, Kris

    2017-07-01

    The diagnosis of Cystic Fibrosis (CF) is by consensus based on the same parameters in all patients, yet the influence of ethnicity has only scarcely been studied. We aimed at elucidating the impact of Asian descent on the diagnosis of CF. We performed a retrospective analysis of the CFTR2 and UK CF databases for clinical phenotype, sweat chloride values and CFTR mutations and compared the diagnostic characteristics of Asian to non-Asian patients with CF. Asian patients with CF do not have a worse clinical phenotype. The repeatedly reported lower FEV 1 of Asian patients with CF is attributable to the influence of ethnicity on lung function in general. However, pancreatic sufficiency is more common in Asian patients with CF. The diagnosis of CF in people with Asian ancestry is heterogeneous as mean sweat chloride values are lower (92±26 versus 99±22mmol/L in controls) and 14% have sweat chloride values below 60mmol/L (versus 6% in non-Asians). Also, CFTR mutations differ from those in Caucasians: 55% of British Asian patients with CF do not have one mutation included in the routine newborn screening panel. Bringing together the largest cohort of patients with CF and Asian ethnicity, we demonstrate that Asian roots impact on all three CF diagnostic pillars. These findings have implications for clinical practice in the increasingly ethnically diverse Western population. Copyright © 2017 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  18. The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients.

    Directory of Open Access Journals (Sweden)

    Eva K Roth

    Full Text Available BACKGROUND: The identification of strategies to improve mutant CFTR function remains a key priority in the development of new treatments for cystic fibrosis (CF. Previous studies demonstrated that the K⁺ channel opener 1-ethyl-2-benzimidazolone (1-EBIO potentiates CFTR-mediated Cl⁻ secretion in cultured cells and mouse colon. However, the effects of 1-EBIO on wild-type and mutant CFTR function in native human colonic tissues remain unknown. METHODS: We studied the effects of 1-EBIO on CFTR-mediated Cl⁻ secretion in rectal biopsies from 47 CF patients carrying a wide spectrum of CFTR mutations and 57 age-matched controls. Rectal tissues were mounted in perfused micro-Ussing chambers and the effects of 1-EBIO were compared in control tissues, CF tissues expressing residual CFTR function and CF tissues with no detectable Cl⁻ secretion. RESULTS: Studies in control tissues demonstrate that 1-EBIO activated CFTR-mediated Cl⁻ secretion in the absence of cAMP-mediated stimulation and potentiated cAMP-induced Cl⁻ secretion by 39.2±6.7% (P<0.001 via activation of basolateral Ca²⁺-activated and clotrimazole-sensitive KCNN4 K⁺ channels. In CF specimens, 1-EBIO potentiated cAMP-induced Cl⁻ secretion in tissues with residual CFTR function by 44.4±11.5% (P<0.001, but had no effect on tissues lacking CFTR-mediated Cl⁻ conductance. CONCLUSIONS: We conclude that 1-EBIO potentiates Cl⁻secretion in native CF tissues expressing CFTR mutants with residual Cl⁻ channel function by activation of basolateral KCNN4 K⁺ channels that increase the driving force for luminal Cl⁻ exit. This mechanism may augment effects of CFTR correctors and potentiators that increase the number and/or activity of mutant CFTR channels at the cell surface and suggests KCNN4 as a therapeutic target for CF.

  19. Benefits of neuromuscular electrical stimulation prior to endurance training in patients with cystic fibrosis and severe pulmonary dysfunction.

    Science.gov (United States)

    Vivodtzev, Isabelle; Decorte, Nicolas; Wuyam, Bernard; Gonnet, Nicolas; Durieu, Isabelle; Levy, Patrick; Cracowski, Jean-Luc; Cracowski, Claire

    2013-02-01

    We investigated the effect of neuromuscular electrical stimulation (NMES) training prior to endurance training in patients with cystic fibrosis (CF) and severe pulmonary obstruction. Fourteen patients with CF (FEV(1) = 35% ± 11% predicted) were prospectively randomized to either a 6-week NMES training program (n = 7) or a 6-week control period (n = 7) both followed by ergocycle (ERGO) training (8 weeks) (NMES + ERGO and control + ERGO groups). Measurements were pulmonary function, mid-thigh circumference, quadriceps strength, 6-min walk distance, maximal exercise capacity on a cycloergometer, plasma biomarkers, insulin resistance (homeostasis model assessment indexes), and quality of life (CF questionnaire for adults and teenagers > 14 years of age [CFQ14 + ], Baseline Dyspnea Index-Transition Dyspnea Index). NMES + ERGO training greatly improved mid-thigh circumference ( + 2.6 ± 0.9 cm vs - 0.4 ± 1.4 cm), quadriceps strength ( + 6 ± 5 kg vs - 2 ± 2 kg), and BMI ( + 0.6 ± 0.6 kg/m(2) vs - 0.5 ± 0.7 kg/m(2) ) compared with control + ERGO training ( P training compared with control + ERGO training ( P training performed prior to endurance training is useful for strengthening peripheral muscles, which in turn may augment gains in body weight and quality of life, further reductions in ventilation requirements during exercise, and retard insulin resistance in patients with CF with severe pulmonary obstruction.

  20. Supplementation with Red Palm Oil Increases β-Carotene and Vitamin A Blood Levels in Patients with Cystic Fibrosis

    Science.gov (United States)

    Sommerburg, Olaf; De Spirt, Silke; Mattern, Annett; Joachim, Cornelia; Langhans, Claus-Dieter; Nesaretnam, Kalanithi; Siems, Werner; Stahl, Wilhelm; Mall, Marcus A.

    2015-01-01

    Patients with cystic fibrosis (CF) show decreased plasma concentrations of antioxidants due to malabsorption of lipid soluble vitamins and consumption by chronic pulmonary inflammation. β-Carotene is a major source of retinol and therefore is of particular significance in CF. The aim of this study was to investigate the effect of daily intake of red palm oil (RPO) containing high amounts of β-carotene on the antioxidant levels in CF patients. Sixteen subjects were recruited and instructed to enrich their food with 2 to 3 tablespoons of RPO (~1.5 mg of β-carotene) daily over 8 weeks. Carotenoids, retinol, and α-tocopherol were measured in plasma at baseline and after intervention. In addition β-carotene, lycopene, α-tocopherol, and vitamin C were measured in buccal mucosa cells (BMC) to determine the influence of RPO on antioxidant tissue levels. Eleven subjects completed the study properly. Plasma β-carotene, retinol, and α-carotene of these patients increased, but plasma concentrations of other carotenoids and α-tocopherol as well as concentrations of β-carotene, lycopene, α-tocopherol, and vitamin C in BMC remained unchanged. Since RPO on a daily basis did not show negative side effects the data suggest that RPO may be used to elevate plasma β-carotene in CF. PMID:25688177

  1. The effect of inpatient rehabilitation programmes on quality of life in patients with cystic fibrosis: A multi-center study

    Directory of Open Access Journals (Sweden)

    Goldbeck Lutz

    2006-02-01

    Full Text Available Abstract Background Disease-specific, multimodal inpatient rehabilitation programmes are designed to improve the physical, emotional, and social functioning of patients with cystic fibrosis (CF. This study investigates the effects of a 4-week inpatient rehabilitation program on health-related quality of life (QL. Methods 84 German patients with CF (16–62 years of age, FEV1 mean 52.9% of the predicted, participating in an inpatient rehabilitation programme, completed the Questions on Life Satisfaction-Modules (FLZM at the beginning and one month after the end of intervention. The FLZM allows the multi-dimensional evaluation of subjectively perceived satisfaction with general and health-specific life domains. In addition, medical parameters (FEV1, Body Mass Index and socio-demographic data were registered. Results Compared to the baseline scores, after rehabilitation, participants were significantly more satisfied with general, health-related, and CF-related aspects of their lives. Specifically, improvement was noted in the following items: breathing difficulties/cough, sleep, integration of therapy into daily routine, leisure activities, general health perception, physical condition and being free from anxiety. Conclusion Comprehensive inpatient rehabilitation programmes are a promising strategy to improve the quality of life of adolescent and adult CF-patients.

  2. Supplementation with Red Palm Oil Increases β-Carotene and Vitamin A Blood Levels in Patients with Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    Olaf Sommerburg

    2015-01-01

    Full Text Available Patients with cystic fibrosis (CF show decreased plasma concentrations of antioxidants due to malabsorption of lipid soluble vitamins and consumption by chronic pulmonary inflammation. β-Carotene is a major source of retinol and therefore is of particular significance in CF. The aim of this study was to investigate the effect of daily intake of red palm oil (RPO containing high amounts of β-carotene on the antioxidant levels in CF patients. Sixteen subjects were recruited and instructed to enrich their food with 2 to 3 tablespoons of RPO (~1.5 mg of β-carotene daily over 8 weeks. Carotenoids, retinol, and α-tocopherol were measured in plasma at baseline and after intervention. In addition β-carotene, lycopene, α-tocopherol, and vitamin C were measured in buccal mucosa cells (BMC to determine the influence of RPO on antioxidant tissue levels. Eleven subjects completed the study properly. Plasma β-carotene, retinol, and α-carotene of these patients increased, but plasma concentrations of other carotenoids and α-tocopherol as well as concentrations of β-carotene, lycopene, α-tocopherol, and vitamin C in BMC remained unchanged. Since RPO on a daily basis did not show negative side effects the data suggest that RPO may be used to elevate plasma β-carotene in CF.

  3. Effect of endurance exercise on respiratory muscle function in patients with cystic fibrosis.

    Science.gov (United States)

    Reilly, Charles C; Ward, Katie; Jolley, Caroline J; Frank, Lucy A; Elston, Caroline; Moxham, John; Rafferty, Gerrard F

    2012-03-15

    During exercise, patients with cystic fibrosis (CF) dynamically hyperinflate, which imposes both elastic and threshold loads on the inspiratory muscles and places them at a mechanical disadvantage due to muscle shortening. Conversely, dynamic hyperinflation imposes a progressively resistive load and lengthens the expiratory muscles potentially increasing their susceptibility to develop low frequency fatigue (LFF). The aim of the study was to determine whether high intensity endurance exercise leads to the development of LFF in either the diaphragm or expiratory abdominal wall muscles in patients with CF. Ten patients and ten healthy individuals were studied. Twitch transdiaphragmatic pressure (TwP(di)) and twitch abdominal pressure (TwT(10)) were measured before and after exhaustive endurance cycle exercise at 80% of their previously determined maximum work rate. There was no difference in TwP(di) or TwT(10) at 20, 40 or 60 min post exercise compared to pre-exercise resting values in any of the participants, indicating that overt LFF of the respiratory muscles did not develop. Copyright © 2012 Elsevier B.V. All rights reserved.

  4. Diagnosis of biofilm infections in cystic fibrosis patients

    DEFF Research Database (Denmark)

    Høiby, Niels; Bjarnsholt, Thomas; Moser, Claus

    2017-01-01

    Chronic Pseudomonas aeruginosa biofilm lung infection in cystic fibrosis patients is the best described biofilm infection in medicine. The initial focus can be the paranasal sinuses and then follows repeated colonization and infection of the lungs by aspiration. The matrix of the biofilms...... for biofilm infection. Rise of specific anti-P. aeruginosa antibodies is likewise diagnostic, IgG in serum in case of lung infection, sIgA in saliva or nasal secretions in case of paranasal sinus infection. Similar approaches have been developed to diagnose chronic biofilm infections in cystic fibrosis caused...

  5. [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. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  6. Altered binding of 125I-labeled calmodulin to a 46.5-kilodalton protein in skin fibroblasts cultured from patients with cystic fibrosis

    International Nuclear Information System (INIS)

    Tallant, E.A.; Wallace, R.W.

    1987-01-01

    The levels of calmodulin and calmodulin-binding proteins have been determined in cultured skin fibroblasts from patients with cystic fibrosis (CF) and age- and sex-matched controls. Calmodulin ranged from 0.20 to 0.76 microgram/mg protein; there was no difference between calmodulin concentration in fibroblasts from CF patients and controls. Calmodulin-binding proteins of 230, 212, 204, 164, 139, 70, 59, 46.5, and 41 kD were identified. A protein with a mobility identical to the 59-kD calmodulin-binding protein was labeled by antiserum against calmodulin-dependent phosphatase. Although Ca 2+ /calmodulin-dependent phosphatase activity was detected, there was no different in activity between control and CF fibroblasts or in the level of phosphatase protein as determined by radioimmunoassay. Lower amounts of 125 I-calmodulin were bound to the 46.5-kD calmodulin-binding protein in CF fibroblasts as compared with controls. The 46.5-kD calmodulin-binding protein may be reduced in CF fibroblasts or its structure may be altered resulting in a reduced binding capacity and/or affinity for calmodulin and perhaps reflecting, either directly or indirectly, the genetic defect responsible for cystic fibrosis

  7. MRI in mucoviscidosis (cystic fibrosis)

    International Nuclear Information System (INIS)

    Eichinger, M.; Puderbach, M.; Kauczor, H.-U.; Heussel, C.-P.

    2006-01-01

    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.) [de

  8. Vaccine strategies against bacterial pathogens in cystic fibrosis patients.

    Science.gov (United States)

    Le Moigne, V; Gaillard, J-L; Herrmann, J-L

    2016-02-01

    A large number of cystic fibrosis pathogens such as bacteria of the Burkholderia cepacia complex, Pseudomonas aeruginosa, or Mycobacterium abscessus are associated with complex therapeutic problems due to their inherent resistance to antibiotics. No vaccine is currently available against those pathogens. Vaccines are therefore crucial to combat these multidrug-resistant bacteria in specific clinical situations including cystic fibrosis. Various strategies may be considered to develop these vaccines. Similar virulence factors are expressed during the infection with various pathogens; they could thus be used as antigen to assess cross-protection. Many clinical trials are currently being conducted to try and develop a prophylactic treatment for patients presenting with cystic fibrosis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  9. TINF2 Gene Mutation in a Patient with Pulmonary Fibrosis

    NARCIS (Netherlands)

    Hoffman, T W; van der Vis, J J; van Oosterhout, M F M; van Es, H W; van Kessel, D A; Grutters, J C; van Moorsel, C H M

    2016-01-01

    Pulmonary fibrosis is a frequent manifestation of telomere syndromes. Telomere gene mutations are found in up to 25% and 3% of patients with familial disease and sporadic disease, respectively. The telomere gene TINF2 encodes an eponymous protein that is part of the shelterin complex, a complex

  10. Optimizing quality of life in patients with idiopathic pulmonary fibrosis

    NARCIS (Netherlands)

    M.J.G. Van Manen (Mirjam); J.J.M. Geelhoed (Miranda); N.C. Tak-van Jaarsveld (Nelleke); M.S. Wijsenbeek (Marlies)

    2017-01-01

    textabstractIdiopathic pulmonary fibrosis (IPF) is a devastating, progressive and ultimately fatal lung disease. The combination of poor prognosis, uncertainty of disease course and severe symptom burden heavily impacts patients' and their families' quality of life. Though new antifibrotic drugs

  11. Serum YKL-40 is increased in patients with hepatic fibrosis

    DEFF Research Database (Denmark)

    Johansen, J S; Christoffersen, P; Møller, S

    2000-01-01

    BACKGROUND/AIMS: YKL-40, a mammalian member of the chitinase family, is a lectin that binds heparin and chitin. The function of YKL-40 is unknown, but it may function in tissue remodelling. The aims of this study were to assess the level of circulating YKL-40 in patients with various kinds...... with the blood sample. RESULTS: The median serum YKL-40 was highest in patients with alcoholic cirrhosis (532 microg/l), in particular in patients with additional alcoholic hepatitis (740 microg/l). Patients with alcoholic cirrhosis, post-hepatitic cirrhosis (425 microg/l) and non-cirrhotic fibrosis (330 microg....../l) had significantly higher serum YKL-40 than normal subjects (102 microg/l), patients with fatty liver (195 microg/l) or patients with viral hepatitis without fibrosis (174 microg/l). Serum YKL-40 was significantly (p

  12. [Cystic fibrosis: centers and care networks organization].

    Science.gov (United States)

    Bellon, G

    2012-05-01

    More than 20 years after the gene discovery, without specific treatment, the observed improvement of the cystic fibrosis prognosis appears due to management's organization as well as early diagnosis (neonatal screening) or progress in symptomatic treatment. The CF Centers (CRCM) official recognition was a necessary step before generalization of routine neonatal screening (October, 2002). Actually French CF management relies on three levels of organization: CF centers, regional care networks and French CF Society, in close relationship with patients association (Vaincre la Mucoviscidose). Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  13. Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.

    Science.gov (United States)

    Ortiz, Sofía C; Aguirre, Santiago J; Flores, Sofía; Maldonado, Claudio; Mejía, Juan; Salinas, Lilian

    2017-11-01

    High heterogeneity in the CFTR gene mutations disturbs the molecular diagnosis of cystic fibrosis (CF). In order to improve the diagnosis of CF in our country, the present study aims to define a panel of common CFTR gene mutations by sequencing 27 exons of the gene in Ecuadorian Cystic Fibrosis patients. Forty-eight Ecuadorian individuals with suspected/confirmed CF diagnosis were included. Twenty-seven exons of CFTR gene were sequenced to find sequence variations. Prevalence of pathogenic variations were determined and compared with other countries' data. We found 70 sequence variations. Eight of these are CF-causing mutations: p.F508del, p.G85E, p.G330E, p.A455E, p.G970S, W1098X, R1162X, and N1303K. Also this study is the second report of p.H609R in Ecuadorian population. Mutation prevalence differences between Ecuadorian population and other Latin America countries were found. The panel of mutations suggested as an initial screening for the Ecuadorian population with cystic fibrosis should contain the mutations: p.F508del, p.G85E, p.G330E, p.A455E, p.G970S, W1098X, R1162X, and N1303K. © 2017 NETLAB Laboratorios Especializados. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

  14. Comparison of three molecular techniques for typing Pseudomonas aeruginosa isolates in sputum samples from patients with cystic fibrosis.

    Science.gov (United States)

    Kidd, Timothy J; Grimwood, Keith; Ramsay, Kay A; Rainey, Paul B; Bell, Scott C

    2011-01-01

    Monitoring the emergence and transmission of Pseudomonas aeruginosa strains among cystic fibrosis (CF) patients is important for infection control in CF centers internationally. A recently developed multilocus sequence typing (MLST) scheme is used for epidemiologic analyses of P. aeruginosa outbreaks; however, little is known about its suitability for isolates from CF patients compared with that of pulsed-field gel electrophoresis (PFGE) and enterobacterial repetitive intergenic consensus-PCR (ERIC-PCR). As part of a prevalence study of P. aeruginosa strains in Australian CF clinics, we compared the discriminatory power and concordance of ERIC-PCR, PFGE, and MLST among 93 CF sputum and 11 control P. aeruginosa isolates. PFGE and MLST analyses were also performed on 30 paired isolates collected 85 to 354 days apart from 30 patients attending two CF centers separated by 3,600 kilometers in order to detect within-host evolution. Each of the three methods displayed high levels of concordance and discrimination; however, overall lower discrimination was seen with ERIC-PCR than with MLST and PFGE. Analysis of the 50 ERIC-PCR types yielded 54 PFGE types, which were related by ≤ 6 band differences, and 59 sequence types, which were classified into 7 BURST groups and 42 singletons. MLST also proved useful for detecting novel and known strains and for inferring relatedness among unique PFGE types. However, 47% of the paired isolates produced PFGE patterns that within 1 year differed by one to five bands, whereas with MLST all paired isolates remained identical. MLST thus represents a categorical analysis tool with resolving power similar to that of PFGE for typing P. aeruginosa. Its focus on highly conserved housekeeping genes is particularly suited for long-term clinical monitoring and detecting novel strains.

  15. Comparative genomics of non-pseudomonal bacterial species colonising paediatric cystic fibrosis patients

    Directory of Open Access Journals (Sweden)

    Kate L. Ormerod

    2015-09-01

    Full Text Available The genetic disorder cystic fibrosis is a life-limiting condition affecting ∼70,000 people worldwide. Targeted, early, treatment of the dominant infecting species, Pseudomonas aeruginosa, has improved patient outcomes; however, there is concern that other species are now stepping in to take its place. In addition, the necessarily long-term antibiotic therapy received by these patients may be providing a suitable environment for the emergence of antibiotic resistance. To investigate these issues, we employed whole-genome sequencing of 28 non-Pseudomonas bacterial strains isolated from three paediatric patients. We did not find any trend of increasing antibiotic resistance (either by mutation or lateral gene transfer in these isolates in comparison with other examples of the same species. In addition, each isolate contained a virulence gene repertoire that was similar to other examples of the relevant species. These results support the impaired clearance of the CF lung not demanding extensive virulence for survival in this habitat. By analysing serial isolates of the same species we uncovered several examples of strain persistence. The same strain of Staphylococcus aureus persisted for nearly a year, despite administration of antibiotics to which it was shown to be sensitive. This is consistent with previous studies showing antibiotic therapy to be inadequate in cystic fibrosis patients, which may also explain the lack of increasing antibiotic resistance over time. Serial isolates of two naturally multi-drug resistant organisms, Achromobacter xylosoxidans and Stenotrophomonas maltophilia, revealed that while all S. maltophilia strains were unique, A. xylosoxidans persisted for nearly five years, making this a species of particular concern. The data generated by this study will assist in developing an understanding of the non-Pseudomonas species associated with cystic fibrosis.

  16. Reduced nasal nitric oxide production in cystic fibrosis patients with elevated systemic inflammation markers.

    Directory of Open Access Journals (Sweden)

    Ruth K Michl

    Full Text Available BACKGROUND: Nitric oxide (NO is produced within the respiratory tract and can be detected in exhaled bronchial and nasal air. The concentration varies in specific diseases, being elevated in patients with asthma and bronchiectasis, but decreased in primary ciliary dyskinesia. In cystic fibrosis (CF, conflicting data exist on NO levels, which are reported unexplained as either decreased or normal. Functionally, NO production in the paranasal sinuses is considered as a location-specific first-line defence mechanism. The aim of this study was to investigate the correlation between upper and lower airway NO levels and blood inflammatory parameters, CF-pathogen colonisation, and clinical data. METHODS AND FINDINGS: Nasal and bronchial NO concentrations from 57 CF patients were determined using an electrochemical analyser and correlated to pathogen colonisation of the upper and lower airways which were microbiologically assessed from nasal lavage and sputum samples. Statistical analyses were performed with respect to clinical parameters (lung function, BMI, laboratory findings (CRP, leucocytes, total-IgG, fibrinogen, and anti-inflammatory and antibiotic therapy. There were significant correlations between nasal and bronchial NO levels (rho = 0.48, p<0.001, but no correlation between NO levels and specific pathogen colonisation. In patients receiving azithromycin, significantly reduced bronchial NO and a tendency to reduced nasal NO could be found. Interestingly, a significant inverse correlation of nasal NO to CRP (rho = -0.28, p = 0.04 and to leucocytes (rho = -0.41, p = 0.003 was observed. In contrast, bronchial NO levels showed no correlation to clinical or inflammatory parameters. CONCLUSION: Given that NO in the paranasal sinuses is part of the first-line defence mechanism against pathogens, our finding of reduced nasal NO in CF patients with elevated systemic inflammatory markers indicates impaired upper airway defence. This

  17. Vitamin K status in cystic fibrosis patients with liver cirrhosis.

    Science.gov (United States)

    Krzyżanowska, Patrycja; Drzymała-Czyż, Sławomira; Pogorzelski, Andrzej; Duś-Żuchowska, Monika; Skorupa, Wojciech; Bober, Lyudmyla; Sapiejka, Ewa; Oralewska, Beata; Rohovyk, Nataliya; Moczko, Jerzy; Nowak, Jan; Wenska-Chyży, Ewa; Rachel, Marta; Lisowska, Aleksandra; Walkowiak, Jarosław

    2017-06-01

    The available data on the influence of liver cirrhosis on vitamin K status in CF patients is scarce. Therefore, the aims of the present study were to assess the prevalence of vitamin K deficiency in cirrhotic CF subjects and to determine whether it correlates with liver cirrhosis. The study group comprised of 27 CF patients with and 63 without liver cirrhosis. Vitamin K status was assessed using prothrombin induced by vitamin K absence (PIVKA-II) and the percentage of undercarboxylated osteocalcin (u-OC). PIVKA-II concentrations were higher in cirrhotic than in non-cirrhotic CF patients (median [1st-3rd quartile]: 3.2ng/ml [1.0-10.0] vs. 1.3ng/ml [0.2-2.6], p=0.0029). However, the differences in u-OC percentages between the studied groups did not reach the level of significance (49.4% [7.0-73.8] vs. 8.0% [2.6-59.1], p=0.0501). Based on multiple linear regression analysis the dose of vitamin K and F508del mutation were potentially defined as determinants of vitamin K deficiency. Liver cirrhosis was not documented to be an independent risk factor. In CF patients with liver cirrhosis vitamin K deficiency is not only more frequent, but also more severe. However, not liver cirrhosis, but the presence of a F508del CFTR mutation constitutes an independent risk factor for vitamin K deficiency. Copyright © 2017 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

  18. Cepacia Syndrome in a Non-Cystic Fibrosis Patient

    Directory of Open Access Journals (Sweden)

    Naomi Hauser

    2015-01-01

    Full Text Available 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 hosts include pneumonia, bronchiectasis, pyopneumothorax, and cavitary lesions. We present a case of a 64-year-old man with Streptococcus pneumoniae community-acquired pneumonia whose hospital course was complicated by developing cavitary lung lesions, bacteremia, and acute respiratory distress syndrome. Repeated tracheal aspirate and blood cultures grew Burkholderia cepacia. Our case appears to be the first report of Cepacia syndrome in a patient without cystic fibrosis. This report raises concern regarding the potential severity of pulmonary Burkholderia cepacia complex infection and the need to broaden clinicians’ suspicion for Cepacia syndrome. A framework to help diagnose and treat infected non-cystic fibrosis individuals may be useful.

  19. Twelve potential fibrosis markers to differentiate mild liver fibrosis from cirrhosis in patients infected with chronic hepatitis C genotype 1

    DEFF Research Database (Denmark)

    Andersen, Ellen Sloth; Ruhwald, M; Moessner, B

    2011-01-01

    Information about the stage of liver fibrosis is important for managing patients with chronic hepatitis C (CHC). The aim of this study was to evaluate 12 plasma markers for differentiating no/mild liver fibrosis from cirrhosis among patients with CHC genotype 1. Transient elastography was used...... to assess the stage of fibrosis for the patients included in the study. Forty patients were included (21 cirrhotic). Plasma levels of tumor necrosis factor-a (TNF-a), interleukin 8 (IL-8), interferon-¿ inducible protein-10 (IP-10), monocyte chemotactic protein-1 (MCP-1), soluble urokinase-type plasminogen....... In conclusion, several of the investigated markers showed promise for differentiating cirrhosis from no/mild fibrosis among patients with CHC genotype 1....

  20. The clonal antibody response to Pseudomonas aeruginosa heat shock protein is highly diverse in cystic fibrosis patients

    DEFF Research Database (Denmark)

    Ulanova, M; Petersen, T D; Ciofu, O

    1997-01-01

    The GroEL protein of Pseudomonas aeruginosa belongs to the bacterial 60-65 kDa heat shock protein family. A strong antibody response to GroEL has been found in cystic fibrosis (CF) patients with chronic pulmonary infection caused by P. aeruginosa. Clonotypes of IgG1 and IgG2 antibodies against Gro...... antibody clones against GroEL. The appearance of new clones with time reflected the long duration of the chronic infection. A striking addition of new clonotypes during the observation period occurred when a new unrelated bacterium (Burkholderia cepacia) had become established as a cause of the pulmonary...

  1. Effectiveness of a Home-Based Active Video Game Programme in Young Cystic Fibrosis Patients.

    Science.gov (United States)

    Del Corral, Tamara; Cebrià I Iranzo, Maria Àngels; López-de-Uralde-Villanueva, Ibai; Martínez-Alejos, Roberto; Blanco, Isabel; Vilaró, Jordi

    2018-01-01

    Exercise-based rehabilitation is already a part of cystic fibrosis (CF) treatment; however, patient adherence is low. To assess the effectiveness of a home exercise programme using active video games (AVGs) as a training modality for children and adolescents with CF. Thirty-nine children with CF were randomised to a control group (CG, n = 20, age 11 ± 6 years; FEV1 86.2 ± 20.5% of predicted) or a training group (AVGG, n = 19, age 13 ± 3 years; FEV1 82.7 ± 21.7% of predicted). The home training protocol consisted of 30- to 60-min sessions, 5 days/week, for 6 weeks using a Nintendo Wii™ platform. Exercise capacity was measured by the 6-min walk test (6MWT) and modified shuttle walk test (MSWT); muscular strength was estimated using the horizontal jump test (HJT), medicine ball throw (MBT), and hand grip strength (right [RHG]; left [LHG]); and quality of life was rated using the Cystic Fibrosis Questionnaire-Revised (CFQ-R). All the children were measured at baseline, after rehabilitation, and at 12 months. For the group × time interaction ANOVAs, the AVGG showed significant between-group differences in exercise capacity: 6MWT farthest walking distance, 38.4 m (p < 0.01); MSWT farthest walking distance, 78.4 m (p < 0.05); and muscular strength: HJT 9.8 cm, MBT 30.8 cm, RHG 7 kg, and LHG 6.5 kg (p < 0.01), before versus after intervention. The CFQ-R reported significantly higher scores on respiratory symptoms after the intervention and favoured the AVGG, and there was an improvement in other domains after 12 months. Adherence to the home exercise programme was 95% during the 6- week intervention period. A home-based programme using AVGs can effectively improve exercise capacity, muscular strength and quality of life in the short-term in children and adolescents with CF. The effects of training on muscle performance and quality of life were sustained over 12 months. © 2017 S. Karger AG, Basel.

  2. Liver Disease in Cystic Fibrosis: an Update

    Science.gov (United States)

    Parisi, Giuseppe Fabio; Di Dio, Giovanna; Franzonello, Chiara; Gennaro, Alessia; Rotolo, Novella; Lionetti, Elena; Leonardi, Salvatore

    2013-01-01

    Context Cystic fibrosis (CF) is the most widespread autosomal recessive genetic disorder that limits life expectation amongst the Caucasian population. As the median survival has increased related to early multidisciplinary intervention, other manifestations of CF have emergedespecially for the broad spectrum of hepatobiliary involvement. The present study reviews the existing literature on liver disease in cystic fibrosis and describes the key issues for an adequate clinical evaluation and management of patients, with a focus on the pathogenetic, clinical and diagnostic-therapeutic aspects of liver disease in CF. Evidence Acquisition A literature search of electronic databases was undertaken for relevant studies published from 1990 about liver disease in cystic fibrosis. The databases searched were: EMBASE, PubMed and Cochrane Library. Results CF is due to mutations in the gene on chromosome 7 that encodes an amino acidic polypeptide named CFTR (cystic fibrosis transmembrane regulator). The hepatic manifestations include particular changes referring to the basic CFTR defect, iatrogenic lesions or consequences of the multisystem disease. Even though hepatobiliary disease is the most common non-pulmonary cause ofmortalityin CF (the third after pulmonary disease and transplant complications), only about the 33%ofCF patients presents clinically significant hepatobiliary disease. Conclusions Liver disease will have a growing impact on survival and quality of life of cystic fibrosis patients because a longer life expectancy and for this it is important its early recognition and a correct clinical management aimed atdelaying the onset of complications. This review could represent an opportunity to encourage researchers to better investigate genotype-phenotype correlation associated with the development of cystic fibrosis liver disease, especially for non-CFTR genetic polymorphisms, and detect predisposed individuals. Therapeutic trials are needed to find strategies of

  3. Nitrous oxide production in sputum from cystic fibrosis patients with chronic Pseudomonas aeruginosa lung infection.

    Directory of Open Access Journals (Sweden)

    Mette Kolpen

    Full Text Available Chronic lung infection by Pseudomonas aeruginosa is the major severe complication in cystic fibrosis (CF patients, where P. aeruginosa persists and grows in biofilms in the endobronchial mucus under hypoxic conditions. Numerous polymorphonuclear leukocytes (PMNs surround the biofilms and create local anoxia by consuming the majority of O2 for production of reactive oxygen species (ROS. We hypothesized that P. aeruginosa acquires energy for growth in anaerobic endobronchial mucus by denitrification, which can be demonstrated by production of nitrous oxide (N2O, an intermediate in the denitrification pathway. We measured N2O and O2 with electrochemical microsensors in 8 freshly expectorated sputum samples from 7 CF patients with chronic P. aeruginosa infection. The concentrations of NO3(- and NO2(- in sputum were estimated by the Griess reagent. We found a maximum median concentration of 41.8 µM N2O (range 1.4-157.9 µM N2O. The concentration of N2O in the sputum was higher below the oxygenated layers. In 4 samples the N2O concentration increased during the initial 6 h of measurements before decreasing for approximately 6 h. Concomitantly, the concentration of NO3(- decreased in sputum during 24 hours of incubation. We demonstrate for the first time production of N2O in clinical material from infected human airways indicating pathogenic metabolism based on denitrification. Therefore, P. aeruginosa may acquire energy for growth by denitrification in anoxic endobronchial mucus in CF patients. Such ability for anaerobic growth may be a hitherto ignored key aspect of chronic P. aeruginosa infections that can inform new strategies for treatment and prevention.

  4. Nitrous oxide production in sputum from cystic fibrosis patients with chronic Pseudomonas aeruginosa lung infection.

    Science.gov (United States)

    Kolpen, Mette; Kühl, Michael; Bjarnsholt, Thomas; Moser, Claus; Hansen, Christine Rønne; Liengaard, Lars; Kharazmi, Arsalan; Pressler, Tanja; Høiby, Niels; Jensen, Peter Østrup

    2014-01-01

    Chronic lung infection by Pseudomonas aeruginosa is the major severe complication in cystic fibrosis (CF) patients, where P. aeruginosa persists and grows in biofilms in the endobronchial mucus under hypoxic conditions. Numerous polymorphonuclear leukocytes (PMNs) surround the biofilms and create local anoxia by consuming the majority of O2 for production of reactive oxygen species (ROS). We hypothesized that P. aeruginosa acquires energy for growth in anaerobic endobronchial mucus by denitrification, which can be demonstrated by production of nitrous oxide (N2O), an intermediate in the denitrification pathway. We measured N2O and O2 with electrochemical microsensors in 8 freshly expectorated sputum samples from 7 CF patients with chronic P. aeruginosa infection. The concentrations of NO3(-) and NO2(-) in sputum were estimated by the Griess reagent. We found a maximum median concentration of 41.8 µM N2O (range 1.4-157.9 µM N2O). The concentration of N2O in the sputum was higher below the oxygenated layers. In 4 samples the N2O concentration increased during the initial 6 h of measurements before decreasing for approximately 6 h. Concomitantly, the concentration of NO3(-) decreased in sputum during 24 hours of incubation. We demonstrate for the first time production of N2O in clinical material from infected human airways indicating pathogenic metabolism based on denitrification. Therefore, P. aeruginosa may acquire energy for growth by denitrification in anoxic endobronchial mucus in CF patients. Such ability for anaerobic growth may be a hitherto ignored key aspect of chronic P. aeruginosa infections that can inform new strategies for treatment and prevention.

  5. Molecular typing and biological characteristics of Pseudomonas aeruginosa isolated from cystic fibrosis patients in Brazil

    Directory of Open Access Journals (Sweden)

    Eliana Guedes Stehling

    Full Text Available The present study had as objective to evaluate the genotypic diversity and biological characteristics, such as hemolysin, protease, elastase of 56 clinical strains of Pseudomonas aeruginosa isolated from 13 cystic fibrosis (CF patients attending at the School Hospital of Campinas State University (UNICAMP, Brazil. Genotypic diversity has been determined by Ribotyping (RT and the pattern of the enterobacterial repetitive intergenic consensus PCR (ERIC-PCR of each strain. The production of elastase was significantly different only among mucoid and nonmucoid isolates. Joint results obtained by (RT and ERIC-PCR methods were able to discriminate all strains isolated from both the same and different patients. Additionally, we observed four strain clusters with low diversity. The most infective strains were located in just two clusters. These results suggest that either there is a strong selection towards a specific genotype or that specific isolates could be responsible for the initial and subsequent colonization processes. More studies are necessary to know if these conclusions can be generalized for the general CF population

  6. Lung diffusing capacity for nitric oxide and carbon monoxide in relation to morphological changes as assessed by computed tomography in patients with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Nowak Dennis

    2009-06-01

    Full Text Available Abstract Background Due to large-scale destruction, changes in membrane diffusion (Dm may occur in cystic fibrosis (CF, in correspondence to alterations observed by computed tomography (CT. Dm can be easily quantified via the diffusing capacity for nitric oxide (DLNO, as opposed to the conventional diffusing capacity for carbon monoxide (DLCO. We thus studied the relationship between DLNO as well as DLCO and a CF-specific CT score in patients with stable CF. Methods Simultaneous single-breath determinations of DLNO and DLCO were performed in 21 CF patients (mean ± SD age 35 ± 9 y, FEV1 66 ± 28%pred. Patients also underwent spirometry and bodyplethysmography. CT scans were evaluated via the Brody score and rank correlations (rS with z-scores of functional measures were computed. Results CT scores correlated best with DLNO (rS = -0.83; p S = -0.63; p CO (rS = -0.79; p NO were significantly lower than for DLCO (p 1, IVC or bodyplethysmographic (e.g., SRaw, RV/TLC indices were weaker than for DLNO or DLCO but most of them were also significant (p Conclusion In this cross sectional study in patients with CF, DLNO and DLCO reflected CT-morphological alterations of the lung better than other measures. Thus the combined diffusing capacity for NO and CO may play a future role for the non-invasive, functional assessment of structural alterations of the lung in CF.

  7. Dynamic in vivo mutations within the ica operon during persistence of Staphylococcus aureus in the airways of cystic fibrosis patients.

    Directory of Open Access Journals (Sweden)

    Bianca Schwartbeck

    2016-11-01

    Full Text Available Cystic fibrosis (CF is associated with chronic bacterial airway infections leading to lung insufficiency and decreased life expectancy. Staphylococcus aureus is one of the most prevalent pathogens isolated from the airways of CF patients. Mucoid colony morphology has been described for Pseudomonas aeruginosa, the most common pathogen in CF, but not for S. aureus. From the airways of 8 of 313 CF patients (2.5% mucoid S. aureus isolates (n = 115 were cultured with a mean persistence of 29 months (range 1 month, 126 months. In contrast to non-mucoid S. aureus, mucoid isolates were strong biofilm formers. The upstream region of the ica operon, which encodes the proteins responsible for the synthesis of the polysaccharide intercellular adhesin (PIA, of mucoid isolates was sequenced. Spa-types of mucoid and non-mucoid strains were identical, but differed between patients. Mucoid isolates carried a 5 bp deletion in the intergenic region between icaR and icaA. During long-term persistence, from two patients subsequent non-mucoid isolates (n = 12 with 5 bp deletions were cultured, which did not produce biofilm. Sequencing of the entire ica operon identified compensatory mutations in various ica-genes including icaA (n = 7, icaD (n = 3 and icaC (n = 2. Six sequential isolates of each of these two patients with non-mucoid and mucoid phenotypes were subjected to whole genome sequencing revealing a very close relationship of the individual patient's isolates. Transformation of strains with vectors expressing the respective wild-type genes restored mucoidy. In contrast to the non-mucoid phenotype, mucoid strains were protected against neutrophilic killing and survived better under starvation conditions. In conclusion, the special conditions present in CF airways seem to facilitate ongoing mutations in the ica operon during S. aureus persistence.

  8. The use of telehealth (text messaging and video communications) in patients with cystic fibrosis: A pilot study.

    Science.gov (United States)

    Gur, Michal; Nir, Vered; Teleshov, Anna; Bar-Yoseph, Ronen; Manor, Eynav; Diab, Gizelle; Bentur, Lea

    2017-05-01

    Background Poor communications between cystic fibrosis (CF) patients and health-care providers may result in gaps in knowledge and misconceptions about medication usage, and can lead to poor adherence. We aimed to assess the feasibility of using WhatsApp and Skype to improve communications. Methods This single-centre pilot study included CF patients who were older than eight years of age assigned to two groups: one without intervention (control group), and one with intervention. Each patient from the intervention group received Skype-based online video chats and WhatsApp messages from members of the multidisciplinary CF team. CF questionnaires, revised (CFQ-R) scores, knowledge and adherence based on CF My Way and patients satisfaction were evaluated before and after three months. Feasibility was assessed by session attendance, acceptability and satisfaction survey. Descriptive analysis and paired and non-paired t-tests were used as applicable. Results Eighteen patients were recruited to this feasibility study (nine in each group). Each intervention group participant had between four and six Skype video chats and received 22-45 WhatsApp messages. In this small study, CFQ-R scores, knowledge, adherence and patient satisfaction were similar in both groups before and after the three-month intervention. Conclusions A telehealth-based approach, using Skype video chats and WhatsApp messages, was feasible and acceptable in this pilot study. A larger and longer multi-centre study is warranted to examine the efficacy of these interventions to improve knowledge, adherence and communication.

  9. Urine lipoarabinomannan point-of-care testing in patients affected by pulmonary nontuberculous mycobacteria - experiences from the Danish Cystic Fibrosis cohort study

    DEFF Research Database (Denmark)

    Qvist, Tavs; Johansen, Isik S.; Pressler, Tania

    2014-01-01

    . We set forth to investigate if the test detects LAM in urine from a Danish cystic fibrosis (CF) population characterized by a high NTM prevalence and negligible TB exposure. Method: Patients followed at the Copenhagen CF Center were comprehensively screened for pulmonary NTM infection between May.......1%) at the grade 1 cut -point. Test specificity for NTM diagnosis was 98.3% and 93.1 for grade 2 and 1 cut-point respectively. Conclusions: This is the first study to assess urine LAM detection in patients with confirmed NTM infection. The study demonstrated low cross-reactivity due to NTM infection when using...... the recommended grade 2 cut-point as positivity threshold. This is reassuring in regards to interpretation of the LAM test for TB diagnosis in a TB prevalent setting. The test was not found suitable for NTM detection among patients with CF....

  10. Growth phenotypes of Pseudomonas aeruginosa lasR mutants adapted to the airways of cystic fibrosis patients

    DEFF Research Database (Denmark)

    D'Argenio, D.A.; Wu, M.H.; Hoffman, L.R.

    2007-01-01

    The opportunistic pathogen Pseudomonas aeruginosa undergoes genetic change during chronic airway infection of cystic fibrosis (CF) patients. One common change is a mutation inactivating lasR, which encodes a transcriptional regulator that responds to a homoserine lactone signal to activate...... growth in the laboratory on a rich medium. The lasR loss-of-function mutations in these strains conferred a growth advantage with particular carbon and nitrogen sources, including amino acids, in part due to increased expression of the catabolic pathway regulator CbrB. This growth phenotype could......-lactam antibiotic. Loss of LasR function may represent a marker of an early stage in chronic infection of the CF airway with clinical implications for antibiotic resistance and disease progression....

  11. Body composition of adult cystic fibrosis patients and control subjects as determined by densitometry, bioelectrical impedance, total-body electrical conductivity, skinfold measurements, and deuterium oxide dilution

    Energy Technology Data Exchange (ETDEWEB)

    Newby, M.J.; Keim, N.L.; Brown, D.L. (Univ. of California, Davis (USA))

    1990-08-01

    This study contrasts body compositions (by six methods) of eight cystic fibrosis (CF) subjects with those of eight control subjects matched for age, height, and sex. CF subjects weighed 84% as much as control subjects. Densitometry and two bioelectrical impedance-analysis methods suggested that reduced CF weights were due to less lean tissue (10.7, 9.5, and 10.4 kg). Total-body electrical conductivity (TOBEC) and skinfold-thickness measurements indicated that CF subjects were leaner than control subjects and had less fat (5.4 and 3.6 kg) and less lean (5.2 and 7 kg) tissue. D2O dilution showed a pattern similar to TOBEC (8.3 kg less lean, 2.7 kg less fat tissue). Densitometry estimates of fat (mass and percent) were not correlated (r less than 0.74, p greater than 0.05) with any other method for CF subjects but were correlated with all other methods for control subjects. CF subjects contained less fat and lean tissue than did control subjects. Densitometry by underwater weighing is unsuitable for assessing body composition of CF patients.

  12. Role of the multidrug efflux system MexXY in the emergence of moderate resistance to aminoglycosides among Pseudomonas aeruginosa isolates from patients with cystic fibrosis.

    Science.gov (United States)

    Vogne, Christelle; Aires, Julio Ramos; Bailly, Christiane; Hocquet, Didier; Plésiat, Patrick

    2004-05-01

    This study investigates the role of active efflux system MexXY in the emergence of aminoglycoside (AG) resistance among cystic fibrosis (CF) isolates of Pseudomonas aeruginosa. Three genotypically related susceptible and resistant (S/R) bacterial pairs and three other AG-resistant CF strains were compared to four non-CF strains moderately resistant to AGs. As demonstrated by immunoblot experiments, pump MexY was strongly overproduced in all of the resistant bacteria. This MexXY upregulation was associated with a 2- to 16-fold increase in the MICs of AGs in the S/R pairs and lower intracellular accumulation of dihydrostreptomycin. Alterations in mexZ, the repressor gene of operon mexXY, were found in all of the AG-resistant CF isolates and in one non-CF strain. Complementation of these bacteria with a plasmid-borne mexZ gene dramatically reduced the MICs of AGs, thus highlighting the role played by MexXY in the development of moderate resistance in CF patients. In contrast, complementation of the three non-CF strains showing wild-type mexZ genes left residual levels of resistance to AGs. These data indicate that a locus different from mexZ may be involved in overproduction of MexXY and that other nonenzymatic mechanisms contribute to AG resistance in P. aeruginosa.

  13. Mucoid Pseudomonas aeruginosa isolates maintain the biofilm formation capacity and the gene expression profiles during the chronic lung infection of CF patients

    DEFF Research Database (Denmark)

    Lee, Bao le ri; Schjerling, Charlotte K.; Kirkby, Nikolai

    2011-01-01

    Phenotypic and genotypic diversifications of Pseudomonas aeruginosa in the airways of patients with cystic fibrosis (CF) promote long-term survival of bacteria during chronic lung infection. Twelve clonally related, sequential mucoid and non-mucoid paired P. aeruginosa isolates obtained from three...... and measurements of the alginate production and the detection of the QS signal molecules were performed. Comparisons of mucoid and non-mucoid isolates from early and late stages of the infection showed that the mucoid phenotype maintained over a decade the capacity to form in vitro biofilm and showed an unaltered...... transcriptional profile, whereas substantial alterations in the transcriptional profiles and loss of the capacity to form in vitro biofilms were observed in corresponding isolates of the non-mucoid phenotype. The conserved gene expression pattern in the mucoid isolates vs the diversity of changes in non...

  14. SERCA2 Regulates Non-CF and CF Airway Epithelial Cell Response to Ozone

    Science.gov (United States)

    Ahmad, Shama; Nichols, David P.; Strand, Matthew; Rancourt, Raymond C.; Randell, Scott H.; White, Carl W.; Ahmad, Aftab

    2011-01-01

    Calcium mobilization can regulate a wide range of essential functions of respiratory epithelium, including ion transport, ciliary beat frequency, and secretion of mucus, all of which are modified in cystic fibrosis (CF). SERCA2, an important controller of calcium signaling, is deficient in CF epithelium. We conducted this study to determine whether SERCA2 deficiency can modulate airway epithelial responses to environmental oxidants such as ozone. This could contribute to the pathogenesis of pulmonary exacerbations, which are important and frequent clinical events in CF. To address this, we used air-liquid interface (ALI) cultures of non-CF and CF cell lines, as well as differentiated cultures of cells derived from non-CF and CF patients. We found that ozone exposure caused enhanced membrane damage, mitochondrial dysfunction and apoptotic cell death in CF airway epithelial cell lines relative to non-CF. Ozone exposure caused increased proinflammatory cytokine production in CF airway epithelial cell lines. Elevated proinflammatory cytokine production also was observed in shRNA-mediated SERCA2 knockdown cells. Overexpression of SERCA2 reversed ozone-induced proinflammatory cytokine production. Ozone-induced proinflammatory cytokine production was NF-κB- dependent. In a stable NF-κB reporter cell line, SERCA2 inhibition and knockdown both upregulated cytomix-induced NF-κB activity, indicating importance of SERCA2 in modulating NF-κB activity. In this system, increased NF-κB activity was also accompanied by increased IL-8 production. Ozone also induced NF-κB activity and IL-8 release, an effect that was greater in SERCA2-silenced NF-κB-reporter cells. SERCA2 overexpression reversed cytomix-induced increased IL-8 release and total nuclear p65 in CFTR-deficient (16HBE-AS) cells. These studies suggest that SERCA2 is an important regulator of the proinflammatory response of airway epithelial cells and could be a potential therapeutic target. PMID:22096575

  15. Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR Mutations in a Cohort of Patients Residing in Palestine.

    Directory of Open Access Journals (Sweden)

    Issa Siryani

    Full Text Available Cystic fibrosis (CF is an autosomal recessive inherited life-threatening disorder that causes severe damage to the lungs and the digestive system. In Palestine, mutations in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR that contributes to the clinical presentation of CF are ill defined. A cohort of thirty three clinically diagnosed CF patients from twenty one different Palestinian families residing in the central and southern part of Palestine were incorporated in this study. Sweat chloride testing was performed using the Sweat Chek Conductivity Analyzer (ELITECH Group, France to confirm the clinical diagnosis of CF. In addition, nucleic acid from the patients' blood samples was extracted and the CFTR mutation profiles were assessed by direct sequencing of the CFTR 27 exons and the intron-exon boundaries. For patient's DNA samples where no homozygous or two heterozygous CFTR mutations were identified by exon sequencing, DNA samples were tested for deletions or duplications using SALSA MLPA probemix P091-D1 CFTR assay. Sweat chloride testing confirmed the clinical diagnosis of CF in those patients. All patients had NaCl conductivity >60 mmol/l. In addition, nine different CFTR mutations were identified in all 21 different families evaluated. These mutations were c.1393-1G>A, F508del, W1282X, G85E, c.313delA, N1303K, deletion exons 17a-17b-18, deletion exons 17a-17b and Q1100P. c.1393-1G>A was shown to be the most frequent occurring mutation among tested families. We have profiled the underling mutations in the CFTR gene of a cohort of 21 different families affected by CF. Unlike other studies from the Arab countries where F508del was reported to be the most common mutation, in southern/central Palestine, the c.1393-1G>A appeared to be the most common. Further studies are needed per sample size and geographic distribution to account for other possible CFTR genetic alterations and their frequencies. Genotype

  16. Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine.

    Science.gov (United States)

    Siryani, Issa; Jama, Mohamed; Rumman, Nisreen; Marzouqa, Hiyam; Kannan, Moein; Lyon, Elaine; Hindiyeh, Musa

    2015-01-01

    Cystic fibrosis (CF) is an autosomal recessive inherited life-threatening disorder that causes severe damage to the lungs and the digestive system. In Palestine, mutations in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) that contributes to the clinical presentation of CF are ill defined. A cohort of thirty three clinically diagnosed CF patients from twenty one different Palestinian families residing in the central and southern part of Palestine were incorporated in this study. Sweat chloride testing was performed using the Sweat Chek Conductivity Analyzer (ELITECH Group, France) to confirm the clinical diagnosis of CF. In addition, nucleic acid from the patients' blood samples was extracted and the CFTR mutation profiles were assessed by direct sequencing of the CFTR 27 exons and the intron-exon boundaries. For patient's DNA samples where no homozygous or two heterozygous CFTR mutations were identified by exon sequencing, DNA samples were tested for deletions or duplications using SALSA MLPA probemix P091-D1 CFTR assay. Sweat chloride testing confirmed the clinical diagnosis of CF in those patients. All patients had NaCl conductivity >60 mmol/l. In addition, nine different CFTR mutations were identified in all 21 different families evaluated. These mutations were c.1393-1G>A, F508del, W1282X, G85E, c.313delA, N1303K, deletion exons 17a-17b-18, deletion exons 17a-17b and Q1100P. c.1393-1G>A was shown to be the most frequent occurring mutation among tested families. We have profiled the underling mutations in the CFTR gene of a cohort of 21 different families affected by CF. Unlike other studies from the Arab countries where F508del was reported to be the most common mutation, in southern/central Palestine, the c.1393-1G>A appeared to be the most common. Further studies are needed per sample size and geographic distribution to account for other possible CFTR genetic alterations and their frequencies. Genotype/phenotype assessments are also

  17. Association between the introduction of a new cystic fibrosis inhaled antibiotic class and change in prevalence of patients receiving multiple inhaled antibiotic classes.

    Science.gov (United States)

    Dasenbrook, Elliott C; Konstan, Michael W; VanDevanter, Donald R

    2015-05-01

    In 2010, aztreonam for inhalation solution joined aminoglycosides and colistimethate as a new cystic fibrosis (CF) chronic inhaled antimicrobial therapy. We studied how the introduction of this new inhaled antibiotic class changed the management of US CF patients. The use of inhaled aminoglycosides, colistimethate, and aztreonam among patients followed in the CF Foundation Patient Registry was analyzed by age group, lung disease stage, and microbiologic status both annually, and at individual visits between 2009 and 2012. The overall prevalence of inhaled antibiotic use did not change during the period, but the prevalence of annual and any visit treatment with >1 inhaled antibiotic class more than doubled. Adults, those with advanced lung disease, and those with >1 Pseudomonas aeruginosa respiratory culture were more likely to receive >1 antibiotic class. Inhaled antibiotic management of US CF patients has dramatically changed in association with the introduction of a third inhaled antibiotic class. Copyright © 2014 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  18. Breath concentration of acetic acid vapour is elevated in patients with cystic fibrosis

    Czech Academy of Sciences Publication Activity Database

    Smith, D.; Sovová, Kristýna; Dryahina, Kseniya; Doušová, T.; Dřevínek, P.; Španěl, Patrik

    2016-01-01

    Roč. 10, č. 2 (2016), s. 021002 ISSN 1752-7155 R&D Projects: GA ČR(CZ) GA14-14534S Institutional support: RVO:61388955 Keywords : cystic fibrosis * SIFT-MS * acetic acid Subject RIV: CF - Physical ; Theoretical Chemistry Impact factor: 4.318, year: 2016

  19. The development of diabetes among Danish cystic fibrosis patients over the last two decades

    DEFF Research Database (Denmark)

    Knudsen, Karin B; Mathiesen, Elisabeth R; Eriksen, Vibeke

    2015-01-01

    OBJECTIVE: Cystic fibrosis (CF)-related diabetes (CFRD) is correlated with age and has been associated with a decline in body mass index (BMI), pulmonary function, and survival. Over the last two decades, the focus has been on the early diagnosis and treatment of diabetes; therefore, in this study...

  20. Nebulized hypertonic saline decreases IL-8 in sputum of patients with cystic fibrosis.

    LENUS (Irish Health Repository)

    Reeves, Emer P

    2011-06-01

    Inflammation within the cystic fibrosis (CF) lung is mediated by inflammatory chemokines, such as IL-8. IL-8 is protected from proteolytic degradation in the airways by binding to glycosaminoglycans, while remaining active. Evidence that increased hypertonicity of airway secretions induced by hypertonic saline treatment alters levels of IL-8 is lacking.

  1. Investigation of the algT operon sequence in mucoid and non-mucoid Pseudomonas aeruginosa isolates from 115 Scandinavian patients with cystic fibrosis and in 88 in vitro non-mucoid revertants

    DEFF Research Database (Denmark)

    Ciofu, Oana; Lee, Baoleri; Johannesson, Marie

    2008-01-01

    Pseudomonas aeruginosa is the dominant pathogen causing chronic lung infections in patients with cystic fibrosis (CF). After an initial phase characterized by intermittent colonizations, a chronic infection is established upon conversion of P. aeruginosa from the non-mucoid to the mucoid, alginate...

  2. Genetic adaptation of Pseudomonas aeruginosa during chronic lung infection of patients with cystic fibrosis: strong and weak mutators with heterogeneous genetic backgrounds emerge in mucA and/or lasR mutants

    DEFF Research Database (Denmark)

    Ciofu, Oana; Mandsberg, Lotte F.; Bjarnsholt, Thomas

    2010-01-01

    During the chronic lung infection of patients with cystic fibrosis (CF), Pseudomonas aeruginosa can survive for long periods due to adaptive evolution mediated by genetic variation. Hypermutability is considered to play an important role in this adaptive evolution and it has been demonstrated...

  3. 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.

  4. Rate of Uptake of Ivacaftor Use after U.S. Food and Drug Administration Approval among Patients Enrolled in the U.S. Cystic Fibrosis Foundation Patient Registry.

    Science.gov (United States)

    Sawicki, Gregory S; Dasenbrook, Elliott; Fink, Aliza K; Schechter, Michael S

    2015-08-01

    Chronic cystic fibrosis (CF) therapies have variable rates of prescribed use, and therapies are rarely prescribed to more than 80% of eligible patients. Ivacaftor was approved in the United States in January 2012 for patients ages 6 years and older with a G551D mutation in their CF gene. To examine the rate of uptake and patterns of documented ivacaftor use among U.S. patients with CF during the first year after approval, to compare eligible patients with and without reported use, and to describe characteristics of early adopters of ivacaftor use. A cross-sectional study of patients in the U.S. Cystic Fibrosis Foundation Patient Registry in 2012 with at least one encounter in which ivacaftor use was documented. Ivacaftor-eligible patients were defined as any individual 6 years of age or older with a G551D mutation. We performed bivariate and multivariate regression analyses, stratified by age group, to compare clinical and demographic characteristics of (1) eligible patients with and without documented ivacaftor use in 2012 and (2) early (February-June) versus late (July-December) adopters in 2012. A total of 1,087 patients with CF with G551D mutations were in the U.S. Cystic Fibrosis Foundation Patient Registry in 2012. By June 2012, 64% of eligible patients had documented ivacaftor use, which increased to 81% by the end of 2012. Among eligible patients younger than 18 years of age, 85% were prescribed ivacaftor, with significantly lower odds among those with higher BMI percentile, fewer clinical encounters in 2011, and later age at diagnosis. Among eligible patients age 18 years or older, 79% were prescribed ivacaftor, with significantly lower odds in nonwhite patients and those with later age at diagnosis. Documented prescriptions of ivacaftor also varied by state of residence, with a range of 42-100% of eligible patients across states. The only association with early adoption of ivacaftor in 2012 was a decreased likelihood in adults with fewer than four

  5. Candidate markers associated with the probability of future pulmonary exacerbations in cystic fibrosis patients.

    Directory of Open Access Journals (Sweden)

    Gabriella Wojewodka

    Full Text Available Pulmonary exacerbations (PEs cause significant morbidity and can severely impact disease progression in cystic fibrosis (CF lung disease, especially in patients who suffer from recurrent PEs. The assessments able to predict a future PE or a recurrent PE are limited. We hypothesized that combining clinical, molecular and patient reported data could identify patients who are at risk of PE.We prospectively followed a cohort of 53 adult CF patients for 24 months. Baseline values for spirometry, clinical status using the Matouk Disease Score, quality of life (QOL, inflammatory markers (C-reactive protein (CRP, interleukins (IL-1β, -6, -8, -10, macrophage inflammatory protein (MIP-1β, tumor necrosis factor (TNF and vascular endothelial growth factor (VEGF, polyunsaturated fatty acids and lipid peroxidation in blood plasma were collected for all patients during periods of stable disease, and patients were monitored for PE requiring PO/IV antibiotic treatment. Additionally, we closely followed 13 patients during PEs collecting longitudinal data on changes in markers from baseline values. We assessed whether any markers were predictors of future PE at baseline and after antibiotic treatment.Out of 53 patients, 37 experienced PEs during our study period. At baseline, we found that low lung function, clinical scoring and QOL values were associated with increased risk of PE events. PEs were associated with increased inflammatory markers at Day 1, and these biomarkers improved with treatment. The imbalance in arachidonic acid and docosahexaenoic acid levels improved with treatment which coincided with reductions in lipid peroxidation. High levels of inflammatory markers CRP and IL-8 were associated with an early re-exacerbation.Our results demonstrate that worse clinical and QOL assessments during stable disease are potential markers associated with a higher risk of future PEs, while higher levels of inflammatory markers at the end of antibiotic treatment

  6. Hypoplasia of the sphenoid sinuses as a diagnostic tool in cystic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Eggesboe, H.B. [Oslo Univ. (Norway). Dept. of Radiology; Eken, T. [Oslo Univ. (Norway). Dept. of Anaesthesiology; Eiklid, K. [Oslo Univ. (Norway). Dept. of Medical Genetics; Kolmannskog, F. [Sentrum Roentgeninstitutt, Oslo (Norway)

    1999-09-01

    Purpose: To measure and compare the size of the sphenoid sinuses in patients with cystic fibrosis (CF) to patients with inflammatory sinonasal disease, and to correlate the size with number of CF mutations in each patient. Material and Methods: Ninety-six CF patients aged 5-47 years (median 19 years) and 130 control patients aged 7-51 years (median 32 years) were examined using coronal CT of the paranasal sinuses. In each patient, the CT image with the largest coronal area of the sphenoid sinuses was scanned into a Macintosh computer with image processing and analysis software. Largest coronal area and largest circumference of the right and left sphenoid sinuses were automatically measured. Additionally, antero-posterior extension of the sphenoid sinuses was calculated from the lateral scanograms. CF patients were grouped according to number of confirmed mutations (CF-0, CF-1, or CF-2). Results: CF patients generally had small sphenoid sinuses. The largest difference for all parameters were observed between the CF-2 and the control groups (p{lt}0.0001). No CF-2 patient had pneumatization beyond the presphenoid. The CF-0 and CF-1 groups consisted of two populations, one overlapping the CF-2 group and another overlapping the control group. Conclusion: Hypoplasia of the sphenoid sinuses is a characteristic finding in CF patients. When pneumatization of the basisphenoid is present, the existing CF diagnosis should be questioned. (orig.)

  7. Dual core quantum dots for highly quantitative ratiometric detection of trypsin activity in cystic fibrosis patients

    Science.gov (United States)

    Castelló Serrano, Iván; Stoica, Georgiana; Matas Adams, Alba; Palomares, Emilio

    2014-10-01

    We present herein two colour encoded silica nanospheres (2nanoSi) for the fluorescence quantitative ratiometric determination of trypsin in humans. Current detection methods for cystic fibrosis diagnosis are slow, costly and suffer from false positives. The 2nanoSi proved to be a highly sensitive, fast (minutes), and single-step approach nanosensor for the screening and diagnosis of cystic fibrosis, allowing the quantification of trypsin concentrations in a wide range relevant for clinical applications (25-350 μg L-1). Furthermore, as trypsin is directly related to the development of cystic fibrosis (CF), different human genotypes, i.e. CF homozygotic, CF heterozygotic, and unaffected, respectively, can be determined using our 2nanoSi nanospheres. We anticipate the 2nanoSi system to be a starting point for non-invasive, easy-to-use and cost effective ratiometric fluorescent biomarkers for recessive genetic diseases like human cystic fibrosis. In a screening program in which the goal is to detect disease and also the carrier status, early diagnosis could be of great help.We present herein two colour encoded silica nanospheres (2nanoSi) for the fluorescence quantitative ratiometric determination of trypsin in humans. Current detection methods for cystic fibrosis diagnosis are slow, costly and suffer from false positives. The 2nanoSi proved to be a highly sensitive, fast (minutes), and single-step approach nanosensor for the screening and diagnosis of cystic fibrosis, allowing the quantification of trypsin concentrations in a wide range relevant for clinical applications (25-350 μg L-1). Furthermore, as trypsin is directly related to the development of cystic fibrosis (CF), different human genotypes, i.e. CF homozygotic, CF heterozygotic, and unaffected, respectively, can be determined using our 2nanoSi nanospheres. We anticipate the 2nanoSi system to be a starting point for non-invasive, easy-to-use and cost effective ratiometric fluorescent biomarkers for

  8. Validation of activity questionnaires in patients with cystic fibrosis by accelerometry and cycle ergometry

    Directory of Open Access Journals (Sweden)

    Ruf Katharina C

    2012-04-01

    Full Text Available Abstract Background The objective of this study was to validate physical activity questionnaires for cystic fibrosis (CF against accelerometry and cycle ergometry. Methods 41 patients with CF (12-42 years completed the Habitual Activity Estimation Scale (HAES, the 7-Day Physical Activity Recall questionnaire (7D-PAR and the Lipid Research Clinics questionnaire (LRC and performed an incremental exercise test according to the Godfrey protocol up to volitional fatigue. Time spent in moderate and vigorous physical activity (MVPA assessed objectively by accelerometry was related to the time spent in the respective activity categories by correlation analyses and calculating intraclass correlation coefficients (ICC. Furthermore, the results of the exercise test were correlated with the results of the questionnaires. Results Time spent in the categories 'hard','very hard' and 'hard & very hard' of the 7D-PAR (0.41 p = 0.002; VO2peak: r = 0.32, p = 0.041. Conclusions In conclusion, the activity categories 'hard' and 'very hard' of the 7D-PAR best reflected objectively measured MVPA. Since the association was at most moderate, the 7D-PAR may be selected to describe physical activity within a population. None of the evaluated questionnaires was able to generate valid physical activity data exercise performance data at the individual level. Neither did any of the questionnaires provide a valid assessment of aerobic fitness on an invidual level.

  9. A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Hassan Chami

    2017-01-01

    Full Text Available We report the case of a 19-year-old male patient of Palestinian descent, who presented with a 1-year history of recurrent Pseudomonas aeruginosa respiratory infections, weight loss, chronic diarrhea, and a normal chloride sweat test. A panel for common cystic fibrosis transmembrane conductance regulator (CFTR gene mutations test was also negative. Cystic fibrosis (CF was still clinically suspected thus, full CFTR gene sequencing was performed, which revealed a homozygous unreported mutation c.2490insT (GenBank accession number: BankIt2019289 seq1 MF167456. Both parents were also found to be heterozygous for this mutation. This case highlights the importance of clinical evaluation and the need for extensive genetic investigation when dealing with a genetic disease with wide variability in a clinical presentation such as CF.

  10. Steady-State Therapy with Azithromycin or Low-Dose Prednisolone in Paediatric Cystic Fibrosis Patients: Inflammatory Markers and Disease Progression.

    Science.gov (United States)

    Shmarina, Galina; Pukhalsky, Alexander; Avakian, Lucine; Semykin, Sergey; Pukhalskaya, Daria; Alioshkin, Vladimir

    2017-01-01

    Anti-inflammatory therapy is a logical approach to slowing the inevitable lung function deterioration in cystic fibrosis (CF) patients. This study's aim was to evaluate inflammatory markers and disease progression in paediatric CF patients chronically treated with azithromycin or low-dose prednisolone. The study included 204 patients with CF and 100 healthy controls; 102 CF patients were treated with basic therapy only (without anti-inflammatory treatment; WAT), and 102 individuals received basic therapy along with azithromycin (n = 59) or low-dose prednisolone (n = 43). The median duration of therapy was 24 months (range 12-82) with azithromycin and 31 months (range 12-180) with prednisolone. A cross-sectional analysis of plasma and sputum biomarkers was performed. Compared with the healthy controls, the WAT group showed elevated IFN-γ, IL-10 (total), and TGFβ1 concentrations, and decreased TNFα (total) and adrenocorticotropic hormone (ACTH) levels (all p azithromycin/prednisolone patients were significantly higher than those in WAT patients and similar to those of healthy children. In contrast, IL-10 (total) levels were significantly decreased in azithromycin/prednisolone-treated patients compared with WAT patients. Children from the azithromycin group demonstrated ACTH levels similar to those of healthy controls. Azithromycin-treated patients showed a significantly reduced rate of CF-related liver disease and a significantly increased incidence of glucose metabolism disturbances. Steady-state anti-inflammatory treatments may have a sustained immunomodulatory action at systemic and local levels in CF patients. Further investigations are needed to assess the effects of supportive azithromycin therapy on the hypothalamic-pituitary-adrenal axis and the incidence of non-pulmonary CF complications. © 2017 S. Karger AG, Basel.

  11. Proteinuria in cystic fibrosis: a possible correlation between genotype and renal phenotype

    OpenAIRE

    Cemlyn-Jones,Jessica; Gamboa,Fernanda

    2009-01-01

    OBJECTIVE: To assess proteinuria in patients with cystic fibrosis (CF), and to correlate proteinuria with genotype, CF-related diabetes and disease severity. METHODS: A prospective study was carried out over a six-month period and involving 22 CF patients. After the collection and analysis of 24-h urine samples, the patients were divided into two subgroups: protein excretion 150 mg/day (highproteinuria). Patient charts were reviewed to o...

  12. Idiopathic retroperitoneal fibrosis: A report on 15 patients

    Directory of Open Access Journals (Sweden)

    Hadži-Đokić Jovan

    2015-01-01

    Full Text Available Background/Aim. Retroperitoneal fibrosis (RPF represents a chronic pathological process characterized by fibrosis which entraps and compresses the ureters and the great blood vessels in the retroperitoneal space. A specific form of RPF is idiopathic RPF, an uncommon collagen vascular disease of unclear etiology. The series of 15 patients which underwent open surgical repair due to idiopathic RPF is presented herein. Methods. From 1989 to 2012, 11 male and 4 female patients underwent surgery due to primary RPF. The ureters were entrapped unilaterally (7 patients, or bilaterally (8 patients. Major symptoms included low back pain due to hydronephrosis (9 patients, uremia (4 patients, and urinary tract infection (2 patients. The diagnosis was based on intravenous urography (IVU, retrograde ureteropyelography and computed tomography (CT. Results. Surgical procedures included intraperitoneal ureteral displacement (8 patients and ureteral wrapping with omental flap (6 patients. One patient underwent bilateral ureteral stenotic segments resection and oblique ureterography, followed by wrapping with omental flap. Pathological examination confirmed primary RPF in all patients. The mean operative time was 3.5 h (range 2.5-4.5 h. The average intrahospital stay was 21 days (range 16-26 days. The mean follow up was 32 months (6-46 months. During the follow up, 12 patients had improvement on IVU. Conclusion. Early recognition of signs and symptoms of RPF is of the utmost importance for the outcome. Surgical procedures, including ureteral wrapping with omental flap, or intraperitoneal ureteral displacement, usually represent definitive treatment.

  13. Rnaseq As A Method To Study Microbial Interactions Arising In The Cystic Fibrosis Airways

    DEFF Research Database (Denmark)

    Amador Hierro, Cristina Isabel; Jelsbak, Lars

    2015-01-01

    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...

  14. Azithromycin in cystic fibrosis : pharmacokinetic and therapeutic aspects of maintenance therapy

    NARCIS (Netherlands)

    Wilms, E.B.

    2012-01-01

    This thesis describes the pharmacokinetics of azithromycin in cystic fibrosis (CF) patients during maintenance therapy, azithromycin drug-drug interactions and the effects of long term use of azithromycin on pulmonary function and microbial resistance. We studied pharmacokinetic parameters of

  15. Polymorphonuclear leucocytes consume oxygen in sputum from chronic Pseudomonas aeruginosa pneumonia in cystic fibrosis

    DEFF Research Database (Denmark)

    Kolpen, Mette; Hansen, C. R.; Bjarnsholt, Thomas

    2010-01-01

    BACKGROUND: Chronic lung infection with Pseudomonas aeruginosa is the most severe complication for patients with cystic fibrosis (CF). This infection is characterised by endobronchial mucoid biofilms surrounded by numerous polymorphonuclear leucocytes (PMNs). The mucoid phenotype offers protectio...

  16. Diagnosis of cystic fibrosis

    NARCIS (Netherlands)

    H.J. Veeze

    1995-01-01

    textabstractApplying the sweat-test as the first choice of test when a diagnosis of cystic fibrosis is suspected is still common practice and advisable. Since the cloning of the CFTR gene more than 400 different cystic fibrosis (CF) mutations have already been identified. The use of CF mutation

  17. Aminoglycoside resistance mechanisms in Pseudomonas aeruginosa isolates from non-cystic fibrosis patients in Thailand.

    Science.gov (United States)

    Poonsuk, Kanchana; Tribuddharat, Chanwit; Chuanchuen, Rungtip

    2013-01-01

    This study aimed to examine aminoglycosides (AMGs) resistance mechanisms, including the AMG-modifying enzyme genes, mexXY, rplY, nuoG, and galU, in the Pseudomonas aeruginosa non-cystic fibrosis (CF) isolates in Thailand. One hundred P. aeruginosa isolates from non-CF patients were examined for susceptibility to AMGs and for the presence of 10 AMG-modifying enzyme genes. Thirty randomly selected isolates were tested for transcription of mexXY and nuoG and mutations in rplY and galU. All the P. aeruginosa isolates exhibited simultaneous resistance to at least 4 AMGs. High resistance rates to amikacin (92%), gentamicin (95%), streptomycin (99%), and tobramycin (96%) were observed, and all isolates were resistant to kanamycin, neomycin, and spectinomycin. Nine AMG-modifying enzyme genes were detected, including aadA1 (84%), aadB (84%), aadA2 (67%), ant(2″)-Ia (72%), strA-strB (70%), aph(3')-IIb (57%), aac(3')-Ia (40%), and aac(6')-IIa (27%). None of the isolates harbored aac(6')-IIb. Of 30 isolates tested, all but 1 isolate expressed MexXY. Two isolates did not express nuoG. Six isolates carried an amino acid change in RplY, but none of the isolates harbored mutation in galU. The results indicated that the AMG-modifying enzyme genes were widespread among the P. aeruginosa non-CF isolates. The MexXY efflux pump and inactivation for rplY played a role in AMG resistance but disruption of nuoG or galU did not.

  18. Assessing exertional dyspnea in patients with idiopathic pulmonary fibrosis

    OpenAIRE

    Swigris, JJ; Streiner, DL; Brown, KK; Belkin, A; Green, KE; Wamboldt, FS; Schwarz, M; Zisman, DA; Hunninghake, G; Chapman, J; Olman, M; Lubell, S; Morrison, LD; Steele, MP; Haram, T

    2014-01-01

    Background: Dyspnea is a hallmark symptom of idiopathic pulmonary fibrosis (IPF), and dyspnea induced physical activity limitation is a prominent driver of quality of life impairment among IPF patients. Methods: We examined response data for the 21 physical activity items (the first 21 of 24) from the University of California San Diego Shortness of Breath Questionnaire (UCSD) collected at baseline in a recently conducted IPF trial. We used Rasch analysis and hypothesis testing with convention...

  19. Population Dynamics of Staphylococcus aureus in Cystic Fibrosis Patients To Determine Transmission Events by Use of Whole-Genome Sequencing.

    Science.gov (United States)

    Ankrum, Andrea; Hall, Barry G

    2017-07-01

    Strict infection control practices have been implemented for health care visits by cystic fibrosis (CF) patients in an attempt to prevent transmission of important pathogens. This study used whole-genome sequencing (WGS) to determine strain relatedness and assess population dynamics of Staphylococcus aureus isolates from a cohort of CF patients as assessed by strain relatedness. A total of 311 S. aureus isolates were collected from respiratory cultures of 115 CF patients during a 22-month study period. Whole-genome sequencing was performed, and using single nucleotide polymorphism (SNP) analysis, phylogenetic trees were assembled to determine relatedness between isolates. Methicillin-resistant Staphylococcus aureus (MRSA) phenotypes were predicted using PPFS2 and compared to the observed phenotype. The accumulation of SNPs in multiple isolates obtained over time from the same patient was examined to determine if a genomic molecular clock could be calculated. Pairs of isolates with ≤71 SNP differences were considered to be the "same" strain. All of the "same" strain isolates were either from the same patient or siblings pairs. There were 47 examples of patients being superinfected with an unrelated strain. The predicted MRSA phenotype was accurate in all but three isolates. Mutation rates were unable to be determined because the branching order in the phylogenetic tree was inconsistent with the order of isolation. The observation that transmissions were identified between sibling patients shows that WGS is an effective tool for determining transmission between patients. The observation that transmission only occurred between siblings suggests that Staphylococcus aureus acquisition in our CF population occurred outside the hospital environment and indicates that current infection prevention efforts appear effective. Copyright © 2017 American Society for Microbiology.

  20. Empyema in a Woman with Cystic Fibrosis: A Cautionary Tale

    Directory of Open Access Journals (Sweden)

    Anne Coates

    2013-01-01

    Full Text Available Cystic fibrosis (CF is a disease which predisposes individuals to recurrent infective exacerbations of suppurative lung disease; however, empyema is a rare complication in these patients. Empyemas secondary to Staphylococcus aureus and Burkholderia cepacia have been described in patients with CF. We report the case of pleural empyema with mixed S. aureus and Pseudomonas aeruginosa infection in a 34-year-old woman with CF, which was managed with ultrasound-guided pigtail catheter insertion, fibrinolysis, and antibiotic therapy. Physicians should be aware of this unusual complication in CF patients, especially those receiving an immunosuppressive therapy.

  1. Calibrated integrated backscatter and myocardial fibrosis in patients undergoing cardiac surgery

    NARCIS (Netherlands)

    Prior, David L; Somaratne, Jithendra B; Jenkins, Alicia J; Yii, Michael; Newcomb, Andrew E; Schalkwijk, Casper G; Black, Mary J; Kelly, Darren J; Campbell, Duncan J

    2015-01-01

    OBJECTIVE: The reported association between calibrated integrated backscatter (cIB) and myocardial fibrosis is based on study of patients with dilated or hypertrophic cardiomyopathy and extensive (mean 15-34%) fibrosis. Its association with lesser degrees of fibrosis is unknown. We examined the

  2. A case report of a cystic fibrosis patient with repeated isolation of Trichosporon mycotoxinivorans identified by a novel short-extraction method

    Directory of Open Access Journals (Sweden)

    Daniel Goldenberger

    2016-10-01

    Full Text Available Abstract Background Trichosporon mycotoxinivorans is a recently described yeast-like fungal organism and its association as a pathogen for patients with cystic fibrosis (CF was reported previously. We show the clinical course of a CF patient over 9 years as well as the applications of modern molecular and proteomic identification techniques of this rare fungus. Case presentation We present the case of a 32-year-old male CF patient with sputum cultures continuously positive with the anamorphic yeast T. mycotoxinivorans during 9 years. Furthermore, susceptibility testing of T. mycotoxinivorans to different antifungals were performed. In addition, a rapid identification method of this novel fungal pathogen with matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS was applied using a simple extraction protocol. Conclusions Our case presentation confirms T. mycotoxinivorans as a potential emerging pathogen in patients with CF. However, our CF patient showed mild symptoms over a very long time period of 9 years. A short MALDI-TOF MS procedure allows reliable and rapid identification of T. mycotoxinivorans and therefore should facilitate further study on the clinical relevance and epidemiology of this unusual fungal organism.

  3. A case report of a cystic fibrosis patient with repeated isolation of Trichosporon mycotoxinivorans identified by a novel short-extraction method.

    Science.gov (United States)

    Goldenberger, Daniel; Hinić, Vladimira; Prince, Spasenija Savic; Tamm, Michael; Balestra, Anna-Maria; Hohler, Doris; Frei, Reno

    2016-10-25

    Trichosporon mycotoxinivorans is a recently described yeast-like fungal organism and its association as a pathogen for patients with cystic fibrosis (CF) was reported previously. We show the clinical course of a CF patient over 9 years as well as the applications of modern molecular and proteomic identification techniques of this rare fungus. We present the case of a 32-year-old male CF patient with sputum cultures continuously positive with the anamorphic yeast T. mycotoxinivorans during 9 years. Furthermore, susceptibility testing of T. mycotoxinivorans to different antifungals were performed. In addition, a rapid identification method of this novel fungal pathogen with matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) was applied using a simple extraction protocol. Our case presentation confirms T. mycotoxinivorans as a potential emerging pathogen in patients with CF. However, our CF patient showed mild symptoms over a very long time period of 9 years. A short MALDI-TOF MS procedure allows reliable and rapid identification of T. mycotoxinivorans and therefore should facilitate further study on the clinical relevance and epidemiology of this unusual fungal organism.

  4. Clinical Meaning of Ascites in Patients with Endomyocardial Fibrosis

    Directory of Open Access Journals (Sweden)

    Barretto Antonio Carlos Pereira

    2002-01-01

    Full Text Available OBJECTIVE: To evaluate the clinical meaning of ascites and the main features of patients with ascites and endomyocardial fibrosis. METHODS: We studied 166 patients with endomyocardial fibrosis (mean age 37 years, 114 women treated over the last 20 years. Ventriculography findings, surgery or necropsy confirmed the diagnosis in all patients. Most patients belonged to New York Heart Association Functional Class III/IV (134, 83.7%. Eighty-one (50.6% had biventricular, 28 (17.5% had right ventricular, and 51 (31.8% had left ventricular involvement. During follow-up, 56 patients died. RESULTS: Ascites was present in 67 (41.8% patients, and right ventricular involvement was present in 59 (88%. In the comparison between patients with or without ascites, those with ascites had higher mortality (49.2% and 24.7%, respectively. Patients with ascites had a higher incidence of edema (95% vs. 43%, hepatomegaly (5.8cm vs. 4.1cm, mean right atrium pressure (19.3 vs. 12mmHg, and final right ventricle diastolic pressure (18.7 vs. 12.9mmHg. Also, patients with ascites had a longer history of illness (5.1 and 3.9 years, respectively and had atrial fibrillation more frequently (44.7% vs. 30.1%. CONCLUSION: Ascites was observed in less than 50% of cases of endomyocardial fibrosis and was associated with greater involvement of the right ventricle and with a longer duration of the disease, thus being a characteristic of a worse prognosis.

  5. 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...

  6. Lumacaftor/ivacaftor, a novel agent for the treatment of cystic fibrosis patients who are homozygous for the F580del CFTR mutation.

    Science.gov (United States)

    Bulloch, Marilyn N; Hanna, Cameron; Giovane, Richard

    2017-10-01

    Cystic Fibrosis (CF) is an autosomal recessive disease affecting up to 90,000 people worldwide. Approximately 73% of patients are homozygous for the F508del cystic fibrosis transmembrane conductance regulator [CFTR] mutation. Traditionally treatment has only included supportive care. Therefore, there is a need for safe and effective novel therapies targeting the underlying molecular defects seen with CF. Areas covered: In 2016, the Food and Drug Administration and the European Commission approved LUM/IVA (Orkambi), a CFTR modulator that includes both a CFTR corrector and potentiator, for CF patients homozygous for the F508del CFTR mutation. This article reviews the pharmacologic features, clinical efficacy, and safety of LUM/IVA and summarize the available pre-clinical and clinical data of LUM/IVA use. Expert commentary: LUM/IVA showed modest, but significant improvements from baseline in percent predicted FEV 1 (ppFEV 1 ) as well as a reduction in pulmonary exacerbations by 35% It was shown to be safe for short- and long-term use. Currently, LUM/IVA is the only oral agent in its class available and represents a milestone the development of therapies for the management of CF. Nonetheless, pharmacoeconomic data are necessary to justify its high cost before is use becomes standard of care.

  7. The Effect of Strict Segregation on Pseudomonas aeruginosa in Cystic Fibrosis Patients.

    Directory of Open Access Journals (Sweden)

    Rosa van Mansfeld

    Full Text Available Segregation of patients with cystic fibrosis (CF was implemented to prevent chronic infection with epidemic Pseudomonas aeruginosa strains with presumed detrimental clinical effects, but its effectiveness has not been carefully evaluated.The effect of strict segregation on the incidence of P. aeruginosa infection in CF patients was investigated through longitudinal protocolized follow-up of respiratory tract infection before and after segregation. In two nested cross-sectional studies in 2007 and 2011 the P. aeruginosa population structure was investigated and clinical parameters were determined in patients with and without infection with the Dutch epidemic P. aeruginosa clone (ST406.Of 784 included patients 315 and 382 were at risk for acquiring chronic P. aeruginosa infection before and after segregation. Acquisition rates were, respectively, 0.14 and 0.05 per 1,000 days at risk (HR: 0.66, 95% CI [0.2548-1.541]; p = 0.28. An exploratory subgroup analysis indicated lower acquisition after segregation in children < 15 years of age (HR: 0.43, 95% CI[0.21-0.95]; p = 0.04. P. aeruginosa population structure did not change after segregation and ST406 was not associated with lung function decline, death or lung transplantation.Strict segregation was not associated with a statistically significant lower acquisition of chronic P. aeruginosa infection and ST406 was not associated with adverse clinical outcome. After segregation there were no new acquisitions of ST406. In an unplanned exploratory analysis chronic acquisition of P. aeruginosa was lower after implementation of segregation in patients under 15 years of age.

  8. Effect of enterovirus D68 on Lung Clearance Index in patients with cystic fibrosis: A case report

    Directory of Open Access Journals (Sweden)

    Danielle M. Goetz

    2015-01-01

    Full Text Available Cystic fibrosis (CF causes airways obstruction and a decline in percent predicted forced expiratory volume in 1 s (FEV1%. FEV1% is an objective measure of a pulmonary exacerbation of CF; improvement in FEV1% is the endpoint used often to determine success of treatment of these acute declines in pulmonary health. Lung Clearance Index (LCI, derived from multiple breath inert gas washout (MBW test, measures ventilation inhomogeneity and small airways dysfunction. In the United States in 2014–2015, enterovirus D68 (EV-D68, a novel virus, led to hospitalizations in children because of respiratory distress. This report describes 2 patients with CF admitted for pulmonary exacerbations who were enrolled in an inpatient study to assess patient satisfaction and utility of MBW to measure LCI. Diagnostic testing indicated that these patients were infected with EV-D68. Although their FEV1% improved to their previous baseline following treatment for pulmonary exacerbation, it was discordant with LCI. We discuss LCI as a novel measure of pulmonary function and hypothesize that, based on these cases, it may be a more sensitive indicator of ongoing post-viral airways dysfunction as compared to FEV1%.

  9. Relative contribution of Prevotella intermedia and Pseudomonas aeruginosa to lung pathology in airways of patients with cystic fibrosis.

    Science.gov (United States)

    Ulrich, Martina; Beer, Isabelle; Braitmaier, Peter; Dierkes, Michaela; Kummer, Florian; Krismer, Bernhard; Schumacher, Ulrike; Gräpler-Mainka, Ute; Riethmüller, Joachim; Jensen, Peter Ø; Bjarnsholt, Thomas; Høiby, Niels; Bellon, Gabriel; Döring, Gerd

    2010-11-01

    Patients with cystic fibrosis (CF) with Pseudomonas aeruginosa lung infections produce endobronchial mucus plugs allowing growth of obligate anaerobes including Prevotella spp. Whether obligate anaerobes contribute to the pathophysiology of CF lung disease is unknown. The virulence of Prevotella intermedia and Ps aeruginosa was investigated in vitro and in mice, antibodies against P intermedia in CF sera were assessed and a culture-independent detection method for P intermedia/P nigrescens in CF sputum was tested. P intermedia reached cell numbers of >10(5)->10(7) colony-forming units (CFU)/ml sputum. The majority of patients with CF (16/17; 94.1%) produced antibodies against two immunoreactive antigens of P intermedia. Culture supernatant fluids, collected from 10(9) P intermedia cells, were more cytotoxic to respiratory epithelial cells in vitro and inflammatory in mouse lungs than respective fluids from anaerobically grown Ps aeruginosa, while fluids from aerobically grown Ps aeruginosa had the highest cytotoxicity and inflammation. Both pathological effects were largely reduced when culture supernatant fluids from 10(7) cells of either species were used. P intermedia cells (∼10(6)CFU/lung) did not induce mortality in the agar beads lung infection mouse model, while Ps aeruginosa cells caused death in 30% of mice due to rapid multiplication. A P intermedia/P nigrescens-specific PNA probe was significantly more sensitive than culture-dependent diagnostic assays to detect these strict anaerobes. Ps aeruginosa and P intermedia become significantly virulent in vitro and in vivo when cell numbers exceed 10(8) CFU/lung.

  10. Relative effects of bronchial drainage and exercise for in-hospital care of patients with cystic fibrosis.

    Science.gov (United States)

    Cerny, F J

    1989-08-01

    Bronchial hygiene therapy is a standard part of the treatment of patients with cystic fibrosis (CF). Coughing alone promotes sputum expectoration and is probably the primary effective component of standard bronchial hygiene therapy. The purpose of this study was to determine whether substituting regular exercise, which also promotes coughing, for two of three daily bronchial hygiene treatments would affect the expected improvements in pulmonary function and exercise response in hospitalized patients with CF. Seventeen patients with CF hospitalized (means length of stay = 13.0 +/- 2.6 days) for an acute exacerbation of their pulmonary disease participated in the study. The patients were randomly assigned to either a group that participated in two cycle ergometer exercise sessions and one bronchial hygiene treatment session per day (EX Group [n = 9]) or a group that participated in three bronchial hygiene treatment sessions per day (PD Group [n = 8]). Pulmonary functions and responses to a progressive, incremental cycle ergometer exercise test were measured on admission and before discharge. Bronchial hygiene therapy consisted of postural drainage, in six positions, with chest percussion and vibration. Therapeutic exercise was of moderate intensity and was individually adjusted based on the patient's heart rate and arterial oxygen saturation response to the admission exercise test. Coughing was encouraged during and after all treatments. Pulmonary function and exercise response were significantly improved over the period of hospitalization in both groups; the improvements were the same in the two groups. These results indicate that, in some hospitalized patients with CF, exercise therapy may be substituted for at least part of the standard protocol of bronchial hygiene therapy.

  11. Diagnosis of bronchiectasis and airway wall thickening in children with cystic fibrosis

    DEFF Research Database (Denmark)

    Kuo, Wieying; de Bruijne, Marleen; Petersen, Jens

    2017-01-01

    Objectives: To quantify airway and artery (AA)-dimensions in cystic fibrosis (CF) and control patients for objective CT diagnosis of bronchiectasis and airway wall thickness (AWT). Methods: Spirometer-guided inspiratory and expiratory CTs of 11 CF and 12 control patients were collected retrospect...

  12. Diagnosis of Cystic Fibrosis in Nonscreened Populations.

    Science.gov (United States)

    Sosnay, Patrick R; White, Terry B; Farrell, Philip M; Ren, Clement L; Derichs, Nico; Howenstine, Michelle S; Nick, Jerry A; De Boeck, Kris

    2017-02-01

    Although the majority of cases of cystic fibrosis (CF) are now diagnosed through newborn screening, there is still a need to standardize the diagnostic criteria for those diagnosed outside of the neonatal period. This is because newborn screening started relatively recently, it is not performed everywhere, and even for individuals who were screened, there is the possibility of a false negative. To limit irreversible organ pathology, a timely diagnosis of CF and institution of CF therapies can greatly benefit these patients. Experts on CF diagnosis were convened at the 2015 CF Foundation Diagnosis Consensus Conference. The participants reviewed and discussed published works and instructive cases of CF diagnosis in individuals presenting with signs, symptoms, or a family history of CF. Through a modified Delphi methodology, several consensus statements were agreed upon. These consensus statements were updates of prior CF diagnosis conferences and recommendations. CF diagnosis in individuals outside of newborn screening relies on the clinical evidence and on evidence of CF transmembrane conductance regulator (CFTR) dysfunction. Clinical evidence can include typical organ pathologies seen in CF such as bronchiectasis or pancreatic insufficiency but often represent a broad range of severity including mild cases. CFTR dysfunction can be demonstrated using sweat chloride testing, CFTR molecular genetic analysis, or CFTR physiologic tests. On the basis of the large number of patients with bona fide CF currently followed in registries with sweat chloride levels between 30 and 40 mmol/L, the threshold considered "intermediate" was lowered from 40 mmol/L in the prior diagnostic guidelines to 30 mmol/L. The CF diagnosis was also discussed in the context of CFTR-related disorders in which CFTR dysfunction may be present, but the individual does not meet criteria for CF. CF diagnosis remains a rare but important condition that can be diagnosed when characteristic clinical

  13. Cystic Fibrosis & disorders of the large intestine: DIOS, constipation, and colorectal cancer.

    Science.gov (United States)

    Abraham, James M; Taylor, Christopher J

    2017-11-01

    Since 1966 when the Cystic Fibrosis Foundation Patient Registry (CFFPR) was founded, clinicians have witnessed significant advances in both the quality and quantity of life for patients living with Cystic Fibrosis (CF). As patients with CF live longer and fuller lives, increasing encumbrances from gastrointestinal manifestations of CF will be observed. This article serves to discuss "below the diaphragm" concerns involving the large intestine (Distal Intestinal Obstruction Syndrome, Constipation, and Colorectal Cancer). Avenues for development and implementation of clinical care protocols, particularly regarding proactive management of known associated conditions and cancer screening, will continue to be refined in the coming years. It falls to the multidisciplinary CF care team to be actively engaged in addressing these concerns effectively as priority shifts from relative acuity (typically related to early nutrition and lung function) to the travails of longevity as the CF population continues to age. Copyright © 2017 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  14. Discovery of novel biomarker candidates for liver fibrosis in hepatitis C patients: a preliminary study.

    Directory of Open Access Journals (Sweden)

    Bevin Gangadharan

    Full Text Available Liver biopsy is the reference standard for assessing liver fibrosis and no reliable non-invasive diagnostic approach is available to discriminate between the intermediate stages of fibrosis. Therefore suitable serological biomarkers of liver fibrosis are urgently needed. We used proteomics to identify novel fibrosis biomarkers in hepatitis C patients with different degrees of liver fibrosis.Proteins in plasma samples from healthy control individuals and patients with hepatitis C virus (HCV induced cirrhosis were analysed using a proteomics technique: two dimensional gel electrophoresis (2-DE. This technique separated the proteins in plasma samples of control and cirrhotic patients and by visualizing the separated proteins we were able to identify proteins which were increasing or decreasing in hepatic cirrhosis. Identified markers were validated across all Ishak fibrosis stages and compared to the markers used in FibroTest, Enhanced Liver Fibrosis (ELF test, Hepascore and FIBROSpect by Western blotting. Forty four candidate biomarkers for hepatic fibrosis were identified of which 20 were novel biomarkers of liver fibrosis. Western blot validation of all candidate markers using plasma samples from patients across all Ishak fibrosis scores showed that the markers which changed with increasing fibrosis most consistently included lipid transfer inhibitor protein, complement C3d, corticosteroid-binding globulin, apolipoprotein J and apolipoprotein L1. These five novel fibrosis markers which are secreted in blood showed a promising consistent change with increasing fibrosis stage when compared to the markers used for the FibroTest, ELF test, Hepascore and FIBROSpect. These markers will be further validated using a large clinical cohort.This study identifies 20 novel fibrosis biomarker candidates. The proteins identified may help to assess hepatic fibrosis and eliminate the need for invasive liver biopsies.

  15. Up-to-date and projected estimates of survival for people with cystic fibrosis using baseline characteristics: A longitudinal study using UK patient registry data.

    Science.gov (United States)

    Keogh, Ruth H; Szczesniak, Rhonda; Taylor-Robinson, David; Bilton, Diana

    2018-03-01

    Cystic fibrosis (CF) is the most common inherited disease in Caucasians, affecting around 10,000 individuals in the UK today. Prognosis has improved considerably over recent decades with ongoing improvements in treatment and care. Providing up-to-date survival predictions is important for patients, clinicians and health services planning. Flexible parametric survival modelling of UK CF Registry data from 2011 to 2015, capturing 602 deaths in 10,428 individuals. Survival curves were estimated from birth; conditional on reaching older ages; and projected under different assumptions concerning future mortality trends, using baseline characteristics of sex, CFTR genotype (zero, one, two copies of F508del) and age at diagnosis. Male sex was associated with better survival, as was older age at diagnosis, but only in F508del non-homozygotes. Survival did not differ by genotype among individuals diagnosed at birth. Median survival ages at birth in F508del homozygotes were 46years (males) and 41years (females), and similar in non-homozygotes diagnosed at birth. F508del heterozygotes diagnosed aged 5 had median survival ages of 57 (males) and 51 (females). Conditional on survival to 30, median survival age rises to 52 (males) and 49 (females) in homozygotes. Mortality rates decreased annually by 2% during 2006-2015. Future improvements at this rate suggest median survival ages for F508del homozygous babies of 65 (males) and 56 (females). Over half of babies born today, and of individuals aged 30 and above today, can expect to survive into at least their fifth decade. Evidence before this study We searched PubMed with terms "(cystic fibrosis survival) and (projection OR model OR registry OR United Kingdom OR UK)" to identify relevant studies on survival estimates for individuals with cystic fibrosis (CF). We also considered the most recent annual report from the UK Cystic Fibrosis Registry (Cystic Fibrosis Trust, 2016), a review by Buzzetti and colleagues (2009), the chapter

  16. Effect of Azithromycin Maintenance Treatment on Infectious Exacerbations Among Patients With Non-Cystic Fibrosis Bronchiectasis The BAT Randomized Controlled Trial

    NARCIS (Netherlands)

    Altenburg, Josje; de Graaff, Casper S.; Stienstra, Ymkje; Sloos, Jacobus H.; van Haren, Eric H. J.; Koppers, Ralph J. H.; van der Werf, Tjip S.; Boersma, Wim G.

    2013-01-01

    Importance Macrolide antibiotics have been shown beneficial in cystic fibrosis (CF) and diffuse panbronchiolitis, and earlier findings also suggest a benefit in non-CF bronchiectasis. Objective To determine the efficacy of macrolide maintenance treatment for adults with non-CF bronchiectasis.

  17. Relationship between lung function and Modified Shuttle Test performance in adult patients with cystic fibrosis : A cross-sectional, retrospective study

    NARCIS (Netherlands)

    Doeleman, W. R.; Takken, T.; Bronsveld, I.; Hulzebos, E. H J

    2016-01-01

    Objectives: To investigate the relationship between lung function and exercise capacity in adults with cystic fibrosis (CF), and to develop a CF-specific equation to predict Modified Shuttle Test (MST) performance from baseline data. Design: Cross-sectional, retrospective study. Setting: Adult CF

  18. Pubertal development in cystic fibrosis: an overview.

    Science.gov (United States)

    Arrigo, Teresa; Rulli, I; Sferlazzas, C; De Luca, Filippo

    2003-03-01

    Cystic fibrosis (CF) is an autosomal recessive disease characterized by respiratory and intestinal insufficiencies. It has been reported in the literature that patients with CF show delayed growth and puberty and girls with CF achieve menarche at older age than normal females. Infertility, in both sexes, and menstrual dysfunction, in girls, are common in patients with CF. Previous data suggest that the degree of failure of growth and development is correlated with malnutrition and severity of progressing pulmonary disease. Despite improved nutrition and intensive treatment, patients with CF have delayed puberty and growth pubertal spurt. This maturational lag is accompanied by a significant delay in attaining pubertal levels of insulin-like growth factor-I (IGF-I), luteinizing hormone (LH), follicle-stimulating hormone (FSH) and sex steroid hormones.

  19. Feasibility study of the diagnosis and monitoring of cystic fibrosis in pediatric patients using stationary digital chest tomosynthesis

    Science.gov (United States)

    Potuzko, Marci; Shan, Jing; Pearce, Caleb; Lee, Yueh Z.; Lu, Jianping; Zhou, Otto

    2015-03-01

    Digital chest tomosynthesis (DCT) is a 3D imaging modality which has been shown to approach the diagnostic capability of CT, but uses only one-tenth the radiation dose of CT. One limitation of current commercial DCT is the mechanical motion of the x-ray source which prolongs image acquisition time and introduces motion blurring in images. By using a carbon nanotube (CNT) x-ray source array, we have developed a stationary digital chest tomosynthesis (s- DCT) system which can acquire tomosynthesis images without mechanical motion, thus enhancing the image quality. The low dose and high quality 3D image makes the s-DCT system a viable imaging tool for monitoring cystic fibrosis (CF) patients. The low dose is especially important in pediatric patients who are both more radiosensitive and have a longer lifespan for radiation symptoms to develop. The purpose of this research is to evaluate the feasibility of using s-DCT as a faster, lower dose means for diagnosis and monitoring of CF in pediatric patients. We have created an imaging phantom by injecting a gelatinous mucus substitute into porcine lungs and imaging the lungs from within an anthropomorphic hollow chest phantom in order to mimic the human conditions of a CF patient in the laboratory setting. We have found that our s-DCT images show evidence of mucus plugging in the lungs and provide a clear picture of the airways in the lung, allowing for the possibility of using s- DCT to supplement or replace CT as the imaging modality for CF patients.

  20. Use of PCR-RFLP and PCR-HWP1 for identification of Candida species isolated from cystic fibrosis patients

    Directory of Open Access Journals (Sweden)

    Peyman Solimani

    2014-08-01

    Full Text Available Background: Due to the predisposing conditions in patients with cystic fibrosis (CF caused by defective mucociliary clearance facilitating colonization and invasion with Candida species has dramatically increased. Traditional methods for identifying problems are imminent and time-consuming. Therefore, molecular techniques utilizing amplification of target DNA provide quick and precise methods for the diagnosis and identification of Candida species. Therefore, the aim of the current study was to identify the most medically common isolated Candida species from the air way of CF patients by PCR-RFLP and amplification of HWP1 gene. Materials and Methods: A total of 42 CF patients presenting symptoms who referred to pediatric respiratory diseases research center were screened for the presence of Candida spp. The isolates initially were phenotypically identified and confirmed by molecular approaches based on restriction fragment length polymorphism ( PCR -RFLP for the discrimination of C. albicans of non-albicans and the amplification of HWP1 gene for the discrimination of C. albicans from C. dubliniensis and C. africana was conducted. Results: The results show that C. albicans was the most frequently isolated species (83.8% followed by non-albicans included C. parapsilosis (7.1%, C. glabrata (3.2%, and C. tropicalis (3.2%. The restriction patterns of each Candida species were perfectly specific. Since MspI could not discriminate between the three morphological related species, C. albicans, C. dubliniensis and C. africana, we used PCR amplification of HWP1 gene, which (7.1% species from C. albicans identified as C. dubliniensis, however C. africana strains were not found. Conclusion: The present study found that C. albicans as predominant species wereisolated from the CF patients. It could be concluded that molecular diagnostic methods are reliable and would be useful for the identification of medically important Candida species in clinical samples

  1. Airway inflammation in mild cystic fibrosis.

    Science.gov (United States)

    Eckrich, Jonas; Zissler, Ulrich M; Serve, Friederike; Leutz, Patricia; Smaczny, Christina; Schmitt-Grohé, Sabina; Fussbroich, Daniela; Schubert, Ralf; Zielen, Stefan; Eickmeier, Olaf

    2017-01-01

    Airway infection and inflammation play major roles in the progression of cystic fibrosis (CF) lung disease. In patients with mild disease, airway inflammation is a clinically relevant and often underdiagnosed feature. Lung function, sputum cell counts, and cytokine profiles in CF with mild disease might be different in patients with and without involvement of small airway disease (SAD). Patients with mild CF (n=32) and 22 healthy controls were enrolled in this study. Patients with CF were assigned to two groups: (1) patients without SAD (n=19, median age 12.3years, MEF 25 >50% predicted), and (2) patients with SAD (n=13 median age, 13.2years, MEF 25 inflammation compared to controls as indicated by elevated levels of sputum biomarkers like total cells, neutrophils, and IL6. Our study demonstrated that patients with CF with mild disease defined by lung function might be further endotyped according to their involvement of SAD. In patients with CF and SAD, airway neutrophilic inflammation is more pronounced and is in part distinct from that seen in patients without SAD. Copyright © 2016 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  2. The story of cystic fibrosis 1965-2015.

    Science.gov (United States)

    Massie, John; Robinson, Phillip J; Cooper, Peter J

    2016-09-01

    There have been dramatic changes in the care of children with cystic fibrosis (CF) from 1965 to 2015. The initial improvements were the result of incremental gains in medical knowledge and better use of available therapies. Some CF-specific drugs were developed (recombinant human DNase and purified tobramycin for inhalation), but these simply delayed the progression of the lung damage. The discovery of the CF transmembrane conductance regulator gene in 1989 created an explosion of knowledge of airway biology and CF pathophysiology. Now mutation-specific therapy to potentiate mutated CF transmembrane conductance regulator is available for some patients with CF and is transforming their lives. Further advances are eagerly anticipated to benefit all patients with CF. © 2016 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

  3. Anti-Biofilm and Immunomodulatory Activities of Peptides That Inhibit Biofilms Formed by Pathogens Isolated from Cystic Fibrosis Patients

    Directory of Open Access Journals (Sweden)

    César de la Fuente-Núñez

    2014-10-01

    Full Text Available Cystic fibrosis (CF patients often acquire chronic respiratory tract infections due to Pseudomonas aeruginosa and Burkholderia cepacia complex (Bcc species. In the CF lung, these bacteria grow as multicellular aggregates termed biofilms. Biofilms demonstrate increased (adaptive resistance to conventional antibiotics, and there are currently no available biofilm-specific therapies. Using plastic adherent, hydroxyapatite and flow cell biofilm models coupled with confocal and scanning electron microscopy, it was demonstrated that an anti-biofilm peptide 1018 prevented biofilm formation, eradicated mature biofilms and killed biofilms formed by a wide range of P. aeruginosa and B. cenocepacia clinical isolates. New peptide derivatives were designed that, compared to their parent peptide 1018, showed similar or decreased anti-biofilm activity against P. aeruginosa biofilms, but increased activity against biofilms formed by the Gram-positive bacterium methicillin resistant Staphylococcus aureus. In addition, some of these new peptide derivatives retained the immunomodulatory activity of 1018 since they induced the production of the chemokine monocyte chemotactic protein-1 (MCP-1 and suppressed lipopolysaccharide-mediated tumor necrosis factor-α (TNF-α production by human peripheral blood mononuclear cells (PBMC and were non-toxic towards these cells. Peptide 1018 and its derivatives provide promising leads for the treatment of chronic biofilm infections and hyperinflammatory lung disease in CF patients.

  4. Advances toward the Elucidation of Hypertonic Saline Effects on Pseudomonas aeruginosa from Cystic Fibrosis Patients

    Science.gov (United States)

    Michon, Anne-Laure; Jumas-Bilak, Estelle; Chiron, Raphaël; Lamy, Brigitte; Marchandin, Hélène

    2014-01-01

    Objectives Nebulized hypertonic saline (HTS) has beneficial effects including reducing pulmonary exacerbations in Cystic Fibrosis (CF) patients. Several mechanisms may explain these effects but antimicrobial activity of NaCl remains largely unexplored. We aimed to measure the antimicrobial effect of NaCl on Pseudomonas aeruginosa isolated from the respiratory tract in CF patients. Methods NaCl minimal inhibitory concentration (MIC) and minimal bactericidal concentration (MBC) were determined for strains characterized for mucoidy, antimicrobial resistance, and ability to form biofilm using 0,9% to 15% NaCl solutions. NaCl effects on biofilm formation, preformed biofilm, and mobility were evaluated. Kinetics of antimicrobial effects was studied. Results The growth of all isolates (n = 85) from 34 patients was inhibited by 6% NaCl solution. A 10% concentration had a bactericidal activity on 90% of the isolates. Mucoid and multidrug resistant (MDR) isolates displayed lower MICs compared to non-mucoid and to non-MDR isolates, respectively. Time-kill kinetics showed that NaCl exhibited a rapid, dose and growth phase dependent bactericidal effect. Three percent or more of NaCl inhibited biofilm formation for 69% of strongly adherent isolates. A dose-dependent decrease of preformed biofilm viability and an inhibitory activity on bacterial motility were observed. Conclusions NaCl inhibited the growth of all isolates and killed 38% of tested isolates within concentration range currently used in therapeutics. Our results suggest that anti-pseudomonal activity is another mechanism of action of HTS to add to those already established. Clinical trials are needed to compare diverse HTS conditions of use (rhythm, dose and mode of delivery) to obtain efficient and optimized anti-P. aeruginosa effects. More generally, NaCl effect on other opportunistic pathogens as well as on global microbiotae recovered during polymicrobial diseases warrants further investigations. PMID

  5. Lung function decline is delayed but not decreased in patients with cystic fibrosis and the R117H gene mutation.

    Science.gov (United States)

    Wagener, Jeffrey S; Millar, Stefanie J; Mayer-Hamblett, Nicole; Sawicki, Gregory S; McKone, Edward F; Goss, Christopher H; Konstan, Michael W; Morgan, Wayne J; Pasta, David J; Moss, Richard B

    2017-10-31

    Patients with cystic fibrosis (CF) experience variable lung disease phenotypes. The R117H mutation is often associated with preserved lung function. Our objective was to compare the rate of lung function decline in patients with the R117H mutation and patients homozygous for the F508del mutation. Rate of decline in percentage-of-predicted FEV 1 (ppFEV 1 ) was analyzed using the 2006-2010 US CF Foundation Patient Registry. 4-year rate of decline was slower in 156 R117H patients compared with 6251 F508del patients (-0.61 vs -2.03 ppFEV 1 /year, P<0.001). Rates of decline in children were slower in R117H vs F508del patients (6-12-year-olds: +0.73 vs -1.91 ppFEV 1 /year, P<0.001 and 13-17-year-olds: -1.55 vs -2.66 ppFEV 1 /year, P=0.046), whereas rates in adults were not significantly different (18-24-year-olds: -1.52 vs -2.12, P=0.26 and ≥25-year-olds: -1.17 vs -1.40, P=0.33). These findings are consistent with a delayed onset, but ultimately similar progression, of lung disease in R117H compared with homozygous F508del patients. Copyright © 2017. Published by Elsevier B.V.

  6. Within-Host Evolution of the Dutch High-Prevalent Pseudomonas aeruginosa Clone ST406 during Chronic Colonization of a Patient with Cystic Fibrosis.

    Directory of Open Access Journals (Sweden)

    Rosa van Mansfeld

    Full Text Available This study investigates adaptation of ST406, a prevalent P. aeruginosa clone, present in 15% of chronically infected cystic fibrosis (CF patients in the Netherlands, in a newly infected CF patient during three years using whole genome sequencing (WGS, transcriptomics, and phenotypic assays, including biofilm formation. WGS-based phylogeny demonstrates that ST406 is genetically distinct from other reported CF related strains or epidemic clones. Comparative genomic analysis of the early (S1 and late (S2 isolate yielded 42 single nucleotide polymorphisms (SNPs and 10 indels and a single 7 kb genomic fragment only found in S2. Most SNPs and differentially expressed genes encoded proteins involved in metabolism, secretion and signal transduction or transcription. SNPs were identified in regulator genes mexT and exsA and coincided with differential gene expression of mexE and mexF, encoding the MexE/F efflux pump, genes encoding the type six secretion system (T6SS and type three secretion system (T3SS, which have also been previously implicated in adaptation of other P. aeruginosa strains during chronic infection of CF lungs. The observation that genetically different strains from different patients have accumulated similar genetic adaptations supports the concept of adaptive parallel evolution of P. aeruginosa in chronically infected CF patients. Phenotypically, there was loss of biofilm maturation coinciding with a significant lower level of transcription of both bfmR and bfmS during chronic colonization. These data suggest that the high-prevalent Dutch CF clone ST406 displays adaptation to the CF lung niche, which involves a limited number of mutations affecting regulators controlling biofilm formation and secretion and genes involved in metabolism. These genes could provide good targets for anti-pseudomonal therapy.

  7. Within-Host Evolution of the Dutch High-Prevalent Pseudomonas aeruginosa Clone ST406 during Chronic Colonization of a Patient with Cystic Fibrosis.

    Science.gov (United States)

    van Mansfeld, Rosa; de Been, Mark; Paganelli, Fernanda; Yang, Lei; Bonten, Marc; Willems, Rob

    2016-01-01

    This study investigates adaptation of ST406, a prevalent P. aeruginosa clone, present in 15% of chronically infected cystic fibrosis (CF) patients in the Netherlands, in a newly infected CF patient during three years using whole genome sequencing (WGS), transcriptomics, and phenotypic assays, including biofilm formation. WGS-based phylogeny demonstrates that ST406 is genetically distinct from other reported CF related strains or epidemic clones. Comparative genomic analysis of the early (S1) and late (S2) isolate yielded 42 single nucleotide polymorphisms (SNPs) and 10 indels and a single 7 kb genomic fragment only found in S2. Most SNPs and differentially expressed genes encoded proteins involved in metabolism, secretion and signal transduction or transcription. SNPs were identified in regulator genes mexT and exsA and coincided with differential gene expression of mexE and mexF, encoding the MexE/F efflux pump, genes encoding the type six secretion system (T6SS) and type three secretion system (T3SS), which have also been previously implicated in adaptation of other P. aeruginosa strains during chronic infection of CF lungs. The observation that genetically different strains from different patients have accumulated similar genetic adaptations supports the concept of adaptive parallel evolution of P. aeruginosa in chronically infected CF patients. Phenotypically, there was loss of biofilm maturation coinciding with a significant lower level of transcription of both bfmR and bfmS during chronic colonization. These data suggest that the high-prevalent Dutch CF clone ST406 displays adaptation to the CF lung niche, which involves a limited number of mutations affecting regulators controlling biofilm formation and secretion and genes involved in metabolism. These genes could provide good targets for anti-pseudomonal therapy.

  8. Validation of a visual analogue score (LRTI-VAS) in non-CF bronchiectasis

    NARCIS (Netherlands)

    Altenburg, Josje; Wortel, Kim; de Graaff, Casper S.; van der Werf, Tjip S.; Boersma, Wim G.

    Background and AimQuality of life in patients with non-cystic fibrosis (non-CF) bronchiectasis is largely defined by respiratory symptoms. To date, no disease-specific tool for symptom measurement in this patient group was available. We developed the lower respiratory tract infections - visual

  9. Severity of lung fibrosis affects early surgical outcomes of lung cancer among patients with combined pulmonary fibrosis and emphysema.

    Science.gov (United States)

    Mimae, Takahiro; Suzuki, Kenji; Tsuboi, Masahiro; Ikeda, Norihiko; Takamochi, Kazuya; Aokage, Keiju; Shimada, Yoshihisa; Miyata, Yoshihiro; Okada, Morihito

    2016-07-01

    Combined pulmonary fibrosis and emphysema (CPFE) is defined as upper lobe emphysema and lower lobe fibrosis, which are representative lung disorders that increase the prevalence of lung cancer. This unique disorder may affect the morbidity and mortality during the early period after surgery. The present study aimed to identify which clinicopathological features significantly affect early surgical outcomes after lung resection in nonsmall cell lung cancer (NSCLC) patients and in those with CPFE.We retrospectively assessed 2295 patients with NSCLC and found that 151 (6.6%) had CPFE. All were surgically treated between January 2008 and December 2010 at 4 institutions.The postoperative complication rates for patients with and without CPFE were 39% and 17%, respectively. The 90-day mortality rates were higher among patients with than without CPFE (7.9% vs 1%). Acute exacerbation of interstitial pneumonia was the main cause of death among 12 patients with CPFE who died within 90 days after surgery. Multivariate logistic regression analysis selected CPFE, gender, age, and clinical stage as independent predictive factors for postoperative complications, and CPFE, clinical stage, and sex for 90-day mortality. The severity of lung fibrosis on preoperative CT images was an independent predictive factor for 90-day mortality among patients with CPFE.The key predictive factor for postoperative mortality and complications of lung resection for NSCLC was CPFE. The severity of lung fibrosis was the principal predictor of early outcomes after lung surgery among patients with CPFE and NSCLC.

  10. Association of TGFB1 -509C/T polymorphism gene with clinical variability in cystic fibrosis patients: A case-control study.

    Science.gov (United States)

    Oueslati, S; Hadj Fredj, S; Dakhlaoui, B; Othmani, R; Siala, H; Messaoud, T

    2015-09-01

    In this work, we are interested to study the implication of -509C/T polymorphism, located in the promoter region of TGFB1 (transforming growth factor β1), in the phenotypic variability of CF patients. The present study enrolled 111 CF patients and 100 healthy control subjects. The study of the -509C/T polymorphism was performed using PCR-RFLP method. We found that patients carried non-F508del homozygous mutation with TT genotype was associated to lung symptoms (P=0.04). This association was not found in the sub-groups of patients with F508del at homozygous state P=0.145. No association was found between this polymorphism and the variability of digestive, pancreatic and ileus meconial symptoms. On the basis of our results, the -509C/T polymorphism of the TGFB1 gene seems to be a modulator factor of cystic fibrosis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  11. Effects of flutter and PEP mask physiotherapy on symptoms and lung function in children with cystic fibrosis

    NARCIS (Netherlands)

    C.M. van Winden; A. Visser (Adriaan); P.J. Sterk (Peter); S. Beckers; J.C. de Jongste (Johan); W.C.J. Hop (Wim)

    1998-01-01

    textabstractRecently, the flutter was introduced as a new device to improve sputum expectoration. Preliminary data suggested a significant improvement in expectoration and lung function during flutter treatment in patients with cystic fibrosis (CF). The aim of the

  12. Genotypic and phenotypic analyses of a Pseudomonas aeruginosa chronic bronchiectasis isolate reveal differences from cystic fibrosis and laboratory strains

    NARCIS (Netherlands)

    Varga, J.J.; Barbier, Mariette; Mulet, Xavier; Bielecki, Piotr; Bartell, J.A.; Owings, J.P.; Martinez-Ramos, Inmaculada; Hittle, L.E.; Davis, M.R.; Damron, F.H.; Liechti, G.W.; Puchałka, Jacek; Martins dos Santos, Vitor; Ernst, R.K.; Papin, J.A.; Albertí, Sebastian; Oliver, Antonio; Goldberg, J.B.

    2015-01-01

    Background: Pseudomonas aeruginosa is an environmentally ubiquitous Gram-negative bacterium and important opportunistic human pathogen, causing severe chronic respiratory infections in patients with underlying conditions such as cystic fibrosis (CF) or bronchiectasis. In order to identify

  13. Defining DIOS and Constipation in Cystic Fibrosis With a Multicentre Study on the Incidence, Characteristics, and Treatment of DIOS

    NARCIS (Netherlands)

    Houwen, Roderick H.; van der Doef, Hubert P.; Sermet, Isabelle; Munck, Anne; Hauser, Bruno; Walkowiak, Jaroslaw; Robberecht, Eddy; Colombo, Carla; Sinaasappel, Maarten; Wilschanski, Michael

    Objectives: Various definitions for distal intestinal obstruction syndrome (DIOS), meconium ileus equivalent, and constipation in patients with Cystic fibrosis (CF) are used. However, an unequivocal definition for DIOS, meconium ileus equivalent, and constipation is preferred. The aims of this study

  14. Prognosis in Cystic Fibrosis: Trends and Predictors

    NARCIS (Netherlands)

    Slieker, M.G.

    2008-01-01

    Cystic fibrosis (CF) is a multisystem disease affecting the digestive system, sweat glands, and the reproductive tract, but progressive lung disease continues to be the major cause of morbidity and mortality. Patients develop chronic infection of the respiratory tract with a characteristic array of

  15. 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...

  16. 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...

  17. Cystic fibrosis school for 10-year-olds

    DEFF Research Database (Denmark)

    Bregnballe, Vibeke; Schiøtz, Peter Oluf

    2000-01-01

    Compliance or rather lack of compliance has always been a problem when treating patients with cystic fibrosis. The patients tend to drop the treatment more or less if the treatment gets too complicated or laboured. We have attempted a systematical education of our patients in a CF school...... give them a good basis on which they can make their own choices about how they want to live their lives with cystic fibrosis and with optimal quality of life....

  18. Cost of care of patients with cystic fibrosis in The Netherlands in 1990-1

    NARCIS (Netherlands)

    Wildhagen, MF; Verheij, JBGM; Hilderink, HBM; Kooij, L; Tijmstra, T; tenKate, LP; Gerritsen, J; Bakker, W; Habbema, JDF

    Background - Research on the cost of care of patients with cystic fibrosis is scarce. The aim of this study was to estimate the costs using age-specific medical consumption from real patient data. Methods - The age-specific medical consumption of patients with cystic fibrosis in The Netherlands in

  19. Genomic analysis of an emerging multiresistant Staphylococcus aureus strain rapidly spreading in cystic fibrosis patients revealed the presence of an antibiotic inducible bacteriophage

    Directory of Open Access Journals (Sweden)

    Boniface Stephanie

    2009-01-01

    Full Text Available Abstract Background Staphylococcus aureus is a major human pathogen responsible for a variety of nosocomial and community-acquired infections. Recent reports show that the prevalence of Methicillin-Resistant S. aureus (MRSA infections in cystic fibrosis (CF patients is increasing. In 2006 in Marseille, France, we have detected an atypical MRSA strain with a specific antibiotic susceptibility profile and a unique growth phenotype. Because of the clinical importance of the spread of such strain among CF patients we decided to sequence the genome of one representative isolate (strain CF-Marseille to compare this to the published genome sequences. We also conducted a retrospective epidemiological analysis on all S. aureus isolated from 2002 to 2007 in CF patients from our institution. Results CF-Marseille is multidrug resistant, has a hetero-Glycopeptide-Intermediate resistance S. aureus phenotype, grows on Cepacia agar with intense orange pigmentation and has a thickened cell wall. Phylogenetic analyses using Complete Genome Hybridization and Multi Locus VNTR Assay showed that CF-Marseille was closely related to strain Mu50, representing vancomycin-resistant S. aureus. Analysis of CF-Marseille shows a similar core genome to that of previously sequenced MRSA strains but with a different genomic organization due to the presence of specific mobile genetic elements i.e. a new SCCmec type IV mosaic cassette that has integrated the pUB110 plasmid, and a new phage closely related to phiETA3. Moreover this phage could be seen by electron microscopy when mobilized with several antibiotics commonly used in CF patients including, tobramycin, ciprofloxacin, cotrimoxazole, or imipenem. Phylogenetic analysis of phenotypically similar h-GISA in our study also suggests that CF patients are colonized by polyclonal populations of MRSA that represents an incredible reservoir for lateral gene transfer. Conclusion In conclusion, we demonstrated the emergence and

  20. Next generation in vitro systems for biofilm studies - a cystic fibrosis patient airway perspective

    DEFF Research Database (Denmark)

    Weiss Nielsen, Martin

    Bacterial infections have a large impact on the health of the general public, however individuals with cystic fibrosis (CF) are immensely susceptible to acquire pulmonary infections with environmental bacteria, viruses and fungal species. Ultimately pulmonary infections are the major cause......, while the ongoing immune response gradually leads to pulmonary deterioration. Physiologically different oxygen environments are present in the different compartments of the CF airways and this has a profound impact on bacterial growth and the effect of chemotherapeutics to eradicate the bacteria...... was to develop an accurate tool for growing biofilms that can mimic the cystic fibrosis airways, emulating one of the most important characteristics of the human airways, the oxygen environments. Microfluidic approaches that allow biofilm formation under controllable oxygen concentrations, and furthermore enable...

  1. Accuracy of the Enhanced Liver Fibrosis Test vs Fibrotest, Elastography and Indirect Markers in Detection of Advanced Fibrosis in Patients with Alcoholic Liver Disease

    DEFF Research Database (Denmark)

    Thiele, Maja; Madsen, Bjørn Stæhr; Hansen, Janne Fuglsang

    2018-01-01

    -dimensional shear-wave elastography), and 6 indirect marker tests in detection of advanced liver fibrosis (Kleiner stage ≥F3). METHODS: We performed a prospective study of 10 liver fibrosis markers (patented and not), all performed on the same day. Patients were recruited from primary centers (municipal...... alcohol rehabilitation, n=128; 6% with advanced fibrosis) and secondary healthcare centers (hospital outpatient clinics, n=161; 36% with advanced fibrosis) in the Region of Southern Denmark from 2013 through 2016. Biopsy-verified fibrosis stage was used as the reference standard. The primary aim...... was to validate ELF in detection of advanced fibrosis in patients with alcoholic liver disease recruited from primary and secondary healthcare centers, using the literature-based cut-off value of 10.5. Secondary aims were to assess the diagnostic accuracy of ELF for significant fibrosis and cirrhosis...

  2. Markers of Collagen Remodeling Detect Clinically Significant Fibrosis in Chronic Hepatitis C Patients

    DEFF Research Database (Denmark)

    Nielsen, Mette J; Kazankov, Konstantin; Leeming, Diana J

    2015-01-01

    BACKGROUND AND AIM: Detection of advanced fibrosis (Metavir F≥3) is important to identify patients with a high urgency of antiviral treatments vs. those whose treatment could be deferred (F≤2). The aim was to assess the diagnostic value of novel serological extracellular matrix protein fragments ...... as a single marker of liver fibrosis. A model combining Pro-C3 and C4M along with patient's age, body mass index and gender increased the diagnostic power for identifying clinically significant fibrosis....

  3. Evaluation of genome-wide expression profiles of blood and sputum neutrophils in cystic fibrosis patients before and after antibiotic therapy.

    Science.gov (United States)

    Conese, Massimo; Castellani, Stefano; Lepore, Silvia; Palumbo, Orazio; Manca, Antonio; Santostasi, Teresa; Polizzi, Angela Maria; Copetti, Massimiliano; Di Gioia, Sante; Casavola, Valeria; Guerra, Lorenzo; Diana, Anna; Montemurro, Pasqualina; Mariggiò, Maria Addolorata; Gallo, Crescenzio; Maffione, Angela Bruna; Carella, Massimo

    2014-01-01

    In seeking more specific biomarkers of the cystic fibrosis (CF) lung inflammatory disease that would be sensitive to antibiotic therapy, we sought to evaluate the gene expression profiles of neutrophils in CF patients before treatment in comparison with non-CF healthy individuals and after antibiotic treatment. Genes involved in neutrophil-mediated inflammation, i.e. chemotaxis, respiratory burst, apoptosis, and granule exocytosis, were the targets of this study. Microarray analysis was carried out in blood and airway neutrophils from CF patients and in control subjects. A fold change (log) threshold of 1.4 and a cut-off of ppre- and post-therapy patients. Control subjects and CF patients before therapy were readily separated, whereas a clear distinction between patients before and after antibiotic therapy was not possible. Blood neutrophils before therapy presented 269 genes down-regulated and 56 up-regulated as compared with control subjects. Comparison between the same patients before and after therapy showed instead 44 genes down-regulated and 72 up-regulated. Three genes appeared to be sensitive to therapy and returned to "healthy" condition: phorbol-12-myristate-13-acetate-induced protein 1 (PMAIP1), hydrogen voltage-gated channel 1 (HVCN1), and β-arrestin 1 (ARRB1). The up-regulation of these genes after therapy were confirmed by real time PCR. In airway neutrophils, 1029 genes were differentially expressed post- vs pre-therapy. Of these, 30 genes were up-regulated and 75 down-regulated following antibiotic treatment. However, biological plausibility determined that only down-regulated genes belonged to the gene classes studied for blood neutrophils. Finally, it was observed that commonly expressed genes showed a greater variability in airway neutrophils than that found in blood neutrophils, both before and after therapy. These results indicate more specific targets for future interventions in CF patients involving respiratory burst, apoptosis, and granule

  4. Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era.

    Science.gov (United States)

    Coffey, Michael J; Whitaker, Viola; Gentin, Natalie; Junek, Rosie; Shalhoub, Carolyn; Nightingale, Scott; Hilton, Jodi; Wiley, Veronica; Wilcken, Bridget; Gaskin, Kevin J; Ooi, Chee Y

    2017-02-01

    To evaluate children with cystic fibrosis (CF) who had a late diagnosis of CF (LD-CF) despite newborn screening (NBS) and compare their clinical outcomes with children diagnosed after a positive NBS (NBS-CF). A retrospective review of patients with LD-CF in New South Wales, Australia, from 1988 to 2010 was performed. LD-CF was defined as NBS-negative (negative immunoreactive trypsinogen or no F508del) or NBS-positive but discharged following sweat chloride diagnosis for LD-CF and NBS-CF was 1.35 (0.4-2.8) and 0.12 (0.03-0.2) years, respectively (P diagnosis (66% vs 4%; P diagnosis and worse later growth and respiratory outcomes, thus providing further support for NBS programs for CF. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. Endocrine parameters of cystic fibrosis: back to basics.

    Science.gov (United States)

    Stalvey, Michael S; Flotte, Terence R

    2009-10-01

    Dramatic changes in the life expectancy of cystic fibrosis (CF) patients are occurring, creating a cohort of aging individuals experiencing long-term complications of this chronic disease. The two most common of these complications include CF-related diabetes and CF bone disease. The clinical implications of each have become better understood, as have potential therapies. However, data obtained from the basic science studies of both diseases have not been widely recognized. In this review, we focus on the known and hypothesized pathogenesis of these two disorders. Additionally, the molecular underpinnings of CF will be explained along with the potential interactions with endocrine disease phenotypes. (c) 2009 Wiley-Liss, Inc.

  6. Role of quorum sensing by Pseudomonas aeruginosa in microbial keratitis and cystic fibrosis

    DEFF Research Database (Denmark)

    Willcox, M.D.P.; Zhu, H.; Conibear, T.C.R.

    2008-01-01

    and of infections in cystic fibrosis (CF) sufferers, and AHL-dependent cell-to-cell signalling has been shown to be important for both infection types. However, keratitis tends to be an acute infection whereas infection of CF patients develops into a chronic, lifelong infection. Thus, it is unclear whether AHL...

  7. Is bronchoscopy an obsolete tool in cystic fibrosis? The role of bronchoscopy in cystic fibrosis and its clinical use.

    Science.gov (United States)

    Paul, Lisa

    2017-09-01

    Cystic fibrosis (CF) is a progressive life threatening multisystem genetic disease which affects the CF transmembrane conductance regulator channel. Respiratory causes remain the most common mortality in CF. With the onset of newborn screening, initiating treatments both for prophylaxis and disease management, optimizing nutritional support, and developing therapies targeting CF transmembrane conductance regulator protein, this has significantly changed the face of managing this devastating disease. Bronchoscopy and related procedures such as bronchoalveolar lavage (BAL), transbronchial biopsies, and protected brush sampling have been looked at in the management of CF as patients with CF continue to live longer with the help of newer therapies, the microbiome in the lung becomes less diverse along with increased occurrences for noninfectious causes of airway diseases. Though bronchoscopy has been used in conjunction with other modalities such as computed tomography and sputum induction providing a better understanding of the progression of the disease, it still remains valuable in the diagnosis and management of CF.

  8. Diversity of metabolic profiles of cystic fibrosis Pseudomonas aeruginosa during the early stages of lung infection

    DEFF Research Database (Denmark)

    Jørgensen, Karin Meinike; Wassermann, Tina; Johansen, Helle Krogh

    2015-01-01

    Pseudomonas aeruginosa is the dominant pathogen infecting the airways of cystic fibrosis (CF) patients. During the intermittent colonization phase, P. aeruginosa resembles environmental strains but later evolves to the chronic adapted phenotype characterized by resistance to antibiotics and mutat......Pseudomonas aeruginosa is the dominant pathogen infecting the airways of cystic fibrosis (CF) patients. During the intermittent colonization phase, P. aeruginosa resembles environmental strains but later evolves to the chronic adapted phenotype characterized by resistance to antibiotics...

  9. Mutation Analysis of Exons 10 and 17a of CFTR Gene in Patients with Cystic Fibrosis in Kermanshah Province, Western Iran.

    Science.gov (United States)

    Sahami, Abbas; Alibakhshi, Reza; Ghadiri, Keyghobad; Sadeghi, Hamid

    2014-01-01

    Cystic fibrosis (CF) is the most common genetic disorder with autosomal recessive inheritance among Caucasian populations. So far, more than 1950 different mutations were identified in cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR gene has 27 exons. The type and distribution of mutations vary widely among different countries and/or ethnic groups. Therefore, a comprehensive analysis was performed on exon10 and exon17a of CFTR gene in CF patients in the Kermanshah province, western Iran. We tested 27 patients admitted to the medical genetics laboratory of Kermanshah University of Medical Sciences. The patients were from different cities of Kermanshah province. All the patients had the clinical signals and two positive sweat tests. After filling agreement forms and questionnaire, the peripheral blood sampling and DNA extraction were done. DNA samples were extracted. PCR and sequencing special PCR were done. Finally analysis of the results with DNA sequencing analysis version 5.2 software was performed. CFTR mutations analysis identified 4 different mutations in our CF patients. The disease-causing mutations were p.F508del (ΔF508) (14.81%), p.S466X (1.85%), and p.T1036I (1.85%). M470V polymorphism with frequency of 74.1% was found in 23 patients (17 homozygous and 6 heterozygous). Three disease-causing mutations in CF patients in the present study account for approximately 18.51% of mutations. The frequency of p.F508del, the most common mutation was 16-18.1% in Iranian population. The results of the present study can be applied for genetic counseling, population screening and prenatal diagnosis.

  10. Impact of the CFTR-potentiator ivacaftor on airway microbiota in cystic fibrosis patients carrying a G551D mutation.

    Directory of Open Access Journals (Sweden)

    Cédric Bernarde

    Full Text Available Airway microbiota composition has been clearly correlated with many pulmonary diseases, and notably with cystic fibrosis (CF, an autosomal genetic disorder caused by mutation in the CF transmembrane conductance regulator (CFTR. Recently, a new molecule, ivacaftor, has been shown to re-establish the functionality of the G551D-mutated CFTR, allowing significant improvement in lung function.The purpose of this study was to follow the evolution of the airway microbiota in CF patients treated with ivacaftor, using quantitative PCR and pyrosequencing of 16S rRNA amplicons, in order to identify quantitative and qualitative changes in bacterial communities. Three G551D children were followed up longitudinally over a mean period of more than one year covering several months before and after initiation of ivacaftor treatment.129 operational taxonomy units (OTUs, representing 64 genera, were identified. There was no significant difference in total bacterial load before and after treatment. Comparison of global community composition found no significant changes in microbiota. Two OTUs, however, showed contrasting dynamics: after initiation of ivacaftor, the relative abundance of the anaerobe Porphyromonas 1 increased (p<0.01 and that of Streptococcus 1 (S. mitis group decreased (p<0.05, possibly in relation to the anti-Gram-positive properties of ivacaftor. The anaerobe Prevotella 2 correlated positively with the pulmonary function test FEV-1 (r=0.73, p<0.05. The study confirmed the presumed positive role of anaerobes in lung function.Several airway microbiota components, notably anaerobes (obligate or facultative anaerobes, could be valuable biomarkers of lung function improvement under ivacaftor, and could shed light on the pathophysiology of lung disease in CF patients.

  11. Patient and Provider Perspectives on Communication About Body Image With Adolescents and Young Adults With Cystic Fibrosis.

    Science.gov (United States)

    Helms, Sarah W; Christon, Lillian M; Dellon, Elisabeth P; Prinstein, Mitchell J

    2017-10-01

    This mixed-methods study examined perspectives of adolescents and young adults (AYAs) with cystic fibrosis (CF) and health care providers on body image communication. Interviews and questionnaires were completed by 20 AYAs and 28 providers. Although 85% of patients reported they had never had a body image conversation with a health care provider, 74% of providers reported discussing this topic with patients. Patients and providers described body image as an important issue, which should be discussed comfortably and supportively. However, patients often preferred to discuss body image as a distinct topic, separate from physical health, whereas providers preferred integrating body image conversations within weight- and health-based discussions. Body image is an important topic for AYAs with CF that often goes unaddressed or addressed in ways that are less preferred by patients. Providers should reduce barriers to effective communication about this important topic, particularly through increased awareness of AYA preferences. © The Author 2017. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

  12. A mouse model for the cystic fibrosis delta F508 mutation

    NARCIS (Netherlands)

    J.H. van Doorninck (Hikke); P.J. French (Pim); E. Verbeek; R.H. Peters; H. Morreau (Hans); J. Bijman (Jan); B.J. Scholte (Bob)

    1995-01-01

    textabstractMost cystic fibrosis (CF) patients produce a mutant form (delta F508) of the cystic fibrosis transmembrane conductance regulator (CFTR), which is not properly processed in normal cells but is active as a chloride channel in several experimental systems. We used a double homologous

  13. Genetic Adaptation of Achromobacter sp. during Persistence in the Lungs of Cystic Fibrosis Patients.

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    Winnie Ridderberg

    Full Text Available Achromobacter species are increasingly isolated from the respiratory tract of cystic fibrosis patients and often a chronic infection is established. How Achromobacter sp. adapts to the human host remains uncharacterised. By comparing longitudinally collected isolates of Achromobacter sp. isolated from five CF patients, we have investigated the within-host evolution of clonal lineages. The majority of identified mutations were isolate-specific suggesting co-evolution of several subpopulations from the original infecting isolate. The largest proportion of mutated genes were involved in the general metabolism of the bacterium, but genes involved in virulence and antimicrobial resistance were also affected. A number of virulence genes required for initiation of acute infection were selected against, e.g. genes of the type I and type III secretion systems and genes related to pilus and flagellum formation or function. Six antimicrobial resistance genes or their regulatory genes were mutated, including large deletions affecting the repressor genes of an RND-family efflux pump and a beta-lactamase. Convergent evolution was observed for five genes that were all implicated in bacterial virulence. Characterisation of genes involved in adaptation of Achromobacter to the human host is required for understanding the pathogen-host interaction and facilitate design of future therapeutic interventions.

  14. Forecasting the Long-Term Clinical and Economic Outcomes of Lumacaftor/Ivacaftor in Cystic Fibrosis Patients with Homozygous phe508del Mutation.

    Science.gov (United States)

    Dilokthornsakul, Piyameth; Patidar, Mausam; Campbell, Jonathan D

    2017-12-01

    To forecast lifetime outcomes and cost of lumacaftor/ivacaftor combination therapy in patients with cystic fibrosis (CF) with homozygous phe508del mutation from the US payer perspective. A lifetime Markov model was developed from a US payer perspective. The model included five health states: 1) mild lung disease (percent predicted forced expiratory volume in 1 second [FEV 1 ] >70%), 2) moderate lung disease (40% ≤ FEV 1 ≤ 70%), 3) severe lung disease (FEV 1 < 40%), 4) lung transplantation, and 5) death. All inputs were derived from published literature. We estimated lumacaftor/ivacaftor's improvement in outcomes compared with a non-CF referent population as well as CF-specific mortality estimates. Lumacaftor/ivacaftor was associated with additional 2.91 life-years (95% credible interval 2.55-3.56) and additional 2.42 quality-adjusted life-years (QALYs) (95% credible interval 2.10-2.98). Lumacaftor/ivacaftor was associated with improvements in survival and QALYs equivalent to 27.6% and 20.7%, respectively, for the survival and QALY gaps between CF usual care and their non-CF peers. The incremental lifetime cost was $2,632,249. Lumacaftor/ivacaftor increased life-years and QALYs in CF patients with the homozygous phe508del mutation and moved morbidity and mortality closer to that of their non-CF peers but it came with higher cost. Copyright © 2017 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.

  15. Macrolide resistance of Staphylococcus aureus and Haemophilus species associated with long-term azithromycin use in cystic fibrosis

    NARCIS (Netherlands)

    S.J. Phaff (Sonja); H.A.W.M. Tiddens (Harm); H.A. Verbrugh (Henri); A. Ott (Alewijn)

    2006-01-01

    textabstractOBJECTIVES: Azithromycin is used to modulate exuberant inflammatory response in patients with cystic fibrosis (CF). The purpose of this study was to determine the association between long-term use of azithromycin in CF patients and change over time in macrolide susceptibility of

  16. Vitamin e intake, α-tocopherol levels and pulmonary function in children and adolescents with cystic fibrosis

    NARCIS (Netherlands)

    Woestenenk, Janna W.; Broos, Nancy; Stellato, Rebecca; Arets, Hubertus G M; Van Der Ent, Cornelis K.; Houwen, Roderick H J; Arets, HGM

    2015-01-01

    Pancreatic insufficiency cystic fibrosis (CF) patients receive vitamin E supplementation according to CF-specific recommendations in order to prevent deficiencies. It has been suggested that higher serum α-tocopherol levels could have protective effects on pulmonary function (PF) in patients with

  17. In vitro activity of seven hospital biocides against Mycobacterium abscessus: Implications for patients with cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Steven Caskey

    2018-01-01

    Full Text Available Background: Mycobacterium abscessus pulmonary infection has recently emerged as a significant pathogen in patients with cystic fibrosis (CF and is associated with significant morbidity and accelerated pulmonary decline. There is a paucity of data describing the activity of hospital biocides against this organism. Methods: M. abscessus isolates (n = 13 were recovered from CF and non-CF respiratory specimens. Seven commonly employed hospital biocides with generic ingredients as follows: acetone, propan-2-ol, diethylene glycol, 5-chloro-2-methyl-4-isothiazolin-3-one and 2-methyl-4-isothiazolin-3-one, chlorine dioxide, 4% chlorhexidine, alcohol, and disodium carbonate, compound with hydrogen peroxide, 10% sodium hypochlorite were assayed for their biocidal activity against M. abscessus. Fresh cultures of M. abscessus were exposed to biocide in liquid medium as per manufacturers' instruction and were immediately plated following the completion of the contact period. The mean concentration of M. abscessus plated was 9.82 × 106 colony-forming units (range: 1.63 × 105–1.12 × 108. In addition, the remaining bacteria/biocide solution was enriched nonselectively in Mueller Hinton broth (37°C/1 week and then plated. Results: All M. abscessus isolates survived in alkyl dimethyl benzyl ammonium chloride, 5-chloro-2-methyl-2H-isothiazol-3-one (EC No. 247-500-7 and 2-methyl-2H-isothiazol-3-one, 4% Chlorhexidine™, O-phenylphenol and Sodium Lauryl Sulfate™ and disodium carbonate, compound with hydrogen peroxide. One out of 13 M. abscessus cultures was killed by Chlorine Dioxide™ and one by Sodium Dichloroisocyanurate™, representing a 5-log kill. Two isolates were killed by Alcohol™ again representing a 5 log kill. Following enrichment, O-phenylphenol and Sodium Lauryl Sulfate™ showed the greatest biocidal activity with 11/13 isolates, whereas 2/13 cultures were killed by sodium dichloroisocyanurate™. All other biocide/culture combinations

  18. In vitro activity of seven hospital biocides against Mycobacterium abscessus: Implications for patients with cystic fibrosis.

    Science.gov (United States)

    Caskey, Steven; Moore, John E; Rendall, Jacqueline C

    2018-01-01

    Mycobacterium abscessus pulmonary infection has recently emerged as a significant pathogen in patients with cystic fibrosis (CF) and is associated with significant morbidity and accelerated pulmonary decline. There is a paucity of data describing the activity of hospital biocides against this organism. M. abscessus isolates (n = 13) were recovered from CF and non-CF respiratory specimens. Seven commonly employed hospital biocides with generic ingredients as follows: acetone, propan-2-ol, diethylene glycol, 5-chloro-2-methyl-4-isothiazolin-3-one and 2-methyl-4-isothiazolin-3-one, chlorine dioxide, 4% chlorhexidine, alcohol, and disodium carbonate, compound with hydrogen peroxide, 10% sodium hypochlorite were assayed for their biocidal activity against M. abscessus. Fresh cultures of M. abscessus were exposed to biocide in liquid medium as per manufacturers' instruction and were immediately plated following the completion of the contact period. The mean concentration of M. abscessus plated was 9.82 × 10 6 colony-forming units (range: 1.63 × 10 5 -1.12 × 10 8 ). In addition, the remaining bacteria/biocide solution was enriched nonselectively in Mueller Hinton broth (37°C/1 week) and then plated. All M. abscessus isolates survived in alkyl dimethyl benzyl ammonium chloride, 5-chloro-2-methyl-2H-isothiazol-3-one (EC No. 247-500-7) and 2-methyl-2H-isothiazol-3-one, 4% Chlorhexidine™, O-phenylphenol and Sodium Lauryl Sulfate™ and disodium carbonate, compound with hydrogen peroxide. One out of 13 M. abscessus cultures was killed by Chlorine Dioxide™ and one by Sodium Dichloroisocyanurate™, representing a 5-log kill. Two isolates were killed by Alcohol™ again representing a 5 log kill. Following enrichment, O-phenylphenol and Sodium Lauryl Sulfate™ showed the greatest biocidal activity with 11/13 isolates, whereas 2/13 cultures were killed by sodium dichloroisocyanurate™. All other biocide/culture combinations yielded growth. These data indicate that M

  19. 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.

  20. Increased amount of atrial fibrosis in patients with atrial fibrillation secondary to mitral valve disease

    NARCIS (Netherlands)

    Geuzebroek, Guillaume S. C.; van Amersfoorth, Shirley C. M.; Hoogendijk, Mark G.; Kelder, Johannes C.; van Hemel, Norbert M.; de Bakker, Jacques M. T.; Coronel, Ruben

    2012-01-01

    Objective: Atrial fibrosis is related to atrial fibrillation but may differ in patients with mitral valve disease or lone atrial fibrillation. Therefore, we studied atrial fibrosis in patients with atrial fibrillation + mitral valve disease or with lone atrial fibrillation and compared it with

  1. Pulmonary Bacterial Communities in Surgically Resected Noncystic Fibrosis Bronchiectasis Lungs Are Similar to Those in Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    Heather Maughan

    2012-01-01

    Full Text Available Background. Recurrent bacterial infections play a key role in the pathogenesis of bronchiectasis, but conventional microbiologic methods may fail to identify pathogens in many cases. We characterized and compared the pulmonary bacterial communities of cystic fibrosis (CF and non-CF bronchiectasis patients using a culture-independent molecular approach. Methods. Bacterial 16S rRNA gene libraries were constructed from lung tissue of 10 non-CF bronchiectasis and 21 CF patients, followed by DNA sequencing of isolates from each library. Community characteristics were analyzed and compared between the two groups. Results. A wide range of bacterial diversity was detected in both groups, with between 1 and 21 bacterial taxa found in each patient. Pseudomonas was the most common genus in both groups, comprising 49% of sequences detected and dominating numerically in 13 patients. Although Pseudomonas appeared to be dominant more often in CF patients than in non-CF patients, analysis of entire bacterial communities did not identify significant differences between these two groups. Conclusions. Our data indicate significant diversity in the pulmonary bacterial community of both CF and non-CF bronchiectasis patients and suggest that this community is similar in surgically resected lungs of CF and non-CF bronchiectasis patients.

  2. Prevalence and risk factors for significant liver fibrosis among HIV-monoinfected patients

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    Localio Russell

    2010-05-01

    Full Text Available Abstract Background HIV-monoinfected patients may be at risk for significant liver fibrosis, but its prevalence and determinants in these patients are unknown. Since HIV-monoinfected patients do not routinely undergo liver biopsy, we evaluated the prevalence and risk factors of significant hepatic fibrosis in this group using the aspartate aminotransferase (AST-to-platelet ratio index (APRI. Methods We conducted a cross-sectional study among HIV-infected patients negative for hepatitis B surface antigen and hepatitis C antibody in the Penn Center for AIDS Research Adult/Adolescent Database. Clinical and laboratory data were collected from the database at enrollment. Hypothesized determinants of significant fibrosis were modifiable risk factors associated with liver disease progression, hepatic fibrosis, or hepatotoxicity, including immune dysfunction (i.e., CD4 T lymphocyte count 3, HIV viremia, diseases associated with hepatic steatosis (e.g., obesity, diabetes mellitus, and use of antiretroviral therapy. The primary outcome was an APRI score >1.5, which suggests significant hepatic fibrosis. Multivariable logistic regression identified independent risk factors for significant fibrosis by APRI. Results Among 432 HIV-monoinfected patients enrolled in the CFAR Database between November 1999 and May 2008, significant fibrosis by APRI was identified in 36 (8.3%; 95% CI, 5.9 - 11.4% patients. After controlling for all other hypothesized risk factors as well as active alcohol use and site, detectable HIV viremia (adjusted OR, 2.56; 95% CI, 1.02 - 8.87 and diabetes mellitus (adjusted OR, 3.15; 95% CI, 1.12 - 10.10 remained associated with significant fibrosis by APRI. Conclusions Significant fibrosis by APRI score was found in 8% of HIV-monoinfected patients. Detectable HIV viremia and diabetes mellitus were associated with significant fibrosis. Future studies should explore mechanisms for fibrosis in HIV-monoinfected patients.

  3. Cystic Fibrosis Revisited - a Review Study.

    Science.gov (United States)

    Klimova, Blanka; Kuca, Kamil; Novotny, Michal; Maresova, Petra

    2017-01-01

    Cystic fibrosis (CF) is an incurable, chronic disease, which causes severe damages to respiratory and digestive tracts. It is the most common genetically inherited disease among caucasians. This disease is caused by defects in CF genes, the so-called mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene population. At present over 100,000 people suffer from this disease worldwide. The purpose of this review study is to describe the pathophysiology of CF and provide the latest information on its diagnosis and treatment therapies with respect to the improvement of patient's quality of life and emphasis on targeted specialized care. The methodological approaches include a method of literature review of available sources exploring the issue of cystic fibrosis both from a global and specific perspective point of view. A search was performed in the databases PubMed, MEDLINE, Web of Science, Scopus, Springer and ScienceDirect. Furthermore, other sources cited in the analyzed studies were also examined. On the basis of evaluation of these literature sources, the research issue was explored. The main benefits (e.g., specialized centres for the treatment of CF exist or a new breakthrough in the gene therapy of CF has been made) and limitations (e.g., comorbidity of CF, lifelong and costly treatment, or adverse impact on patient's and caregiver's quality of life) in the treatment of narcolepsy are highlighted. CF requires an integrated treatment approach in specialized CF centers, involving various factors contributing to a better patient's state of health in the form of relevant and well-balanced non-pharmacological and pharmacological therapies. In addition, further large scale clinical trials are needed in order to develop compounds that are aimed at the most common classes of CFTR. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  4. Prevalence of Pancreatic insufficiency & FTT in Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    M. Najafi

    1998-04-01

    Full Text Available Cystic Fibrosis (CF is an inherited disease that affects multiple organ systems. It is the most common cause of severe progressive lung disease and exocrine panceratic insufficiency. In our investigation 67 patients had CF. Of these, 79% had panceratic insufficiency and 92% had lung disease under 2 years age. Also 67% of patients were < 2 percentile and 28% between 3-10 percentile weight for age. Unfortunately 27% of them died because of respiratory problems

  5. [NUTRITIONAL STATUS ASSESSMENT IN PATIENTS WITH CYSTIC FIBROSIS].

    Science.gov (United States)

    Lambe, Cécile; Mallet, Pascale; Bailly, Céline; Sermet-Gaudelus, Isabelle

    2015-10-01

    Prognosis of cystic fibrosis has been largely modified over the past 30 years. Optimization of nutrition is one of the most important contributing factors of this improvement. Nutritional defect result from the conjunction of loss of calories, maldigestion, hypercatabolism and insufficient intake. Pancreatic opotherapy and ADEK vitamin administration is mandatory in pancreatic insufficient patients. Nutritional status must be evaluated at each clinics to detect nutritional defect as early as possible. Nutritional intake must be hypercaloric, normalipidic and adapted to the tastes of the patient. The clinician must be aware of at risk nutritional period: first year of life, puberty, infectious exacerbation, respiratory worsening and diabetes, In neonatal screened babies, recovery of birth weight percentile must be targeted at 6 months, and for the height must be in accordance to genetic height at 2 years. In all cases it is mandatory to treat denutrition by oral supplementation and if necessay enteral nutrition.

  6. Diagnosis of biofilm infections in cystic fibrosis patients.

    Science.gov (United States)

    Høiby, Niels; Bjarnsholt, Thomas; Moser, Claus; Jensen, Peter Østrup; Kolpen, Mette; Qvist, Tavs; Aanaes, Kasper; Pressler, Tanja; Skov, Marianne; Ciofu, Oana

    2017-04-01

    Chronic Pseudomonas aeruginosa biofilm lung infection in cystic fibrosis patients is the best described biofilm infection in medicine. The initial focus can be the paranasal sinuses and then follows repeated colonization and infection of the lungs by aspiration. The matrix of the biofilms is dominated by alginate and the pathogenesis of tissue damage is immune complex-mediated chronic inflammation dominated by polymorphonuclear leukocytes and their products (DNA, oxygen radicals and proteases). The P. aeruginosa biofilm infection can be diagnosed by microscopy of lung tissue, sputum and mucus from the paranasal sinuses, where aggregates of the bacteria are found surrounded by the abundant alginate matrix. Specific PNA-FISH probes can be used to identify P. aeruginosa and other pathogens in situ in the biofilms. Growth of mucoid colonies from the locations mentioned above is also diagnostic for biofilm infection. Rise of specific anti-P. aeruginosa antibodies is likewise diagnostic, IgG in serum in case of lung infection, sIgA in saliva or nasal secretions in case of paranasal sinus infection. Similar approaches have been developed to diagnose chronic biofilm infections in cystic fibrosis caused by other pathogens e.g., Stenotrophomonas, Burkholderia multivorans, Achromobacter xylosoxidans and Mycobacterium abscessus complex. © 2017 APMIS. Published by John Wiley & Sons Ltd.

  7. Pharmacokinetic variability of clarithromycin and differences in CYP3A4 activity in patients with cystic fibrosis

    DEFF Research Database (Denmark)

    Dalbøge, C S; Nielsen, X C; Dalhoff, K

    2014-01-01

    3A4-activity and clarithromycin metabolism was demonstrated (P cystic fibrosis patients may cause treatment failure. The Erythromycin Breath Test could be valuable in identifying cystic fibrosis patients in risk...

  8. Patient-specific modeling of regional antibiotic concentration levels in airways of patients with cystic fibrosis: are we dosing high enough?

    Directory of Open Access Journals (Sweden)

    Aukje C Bos

    Full Text Available Pseudomonas aeruginosa (Pa infection is an important contributor to the progression of cystic fibrosis (CF lung disease. The cornerstone treatment for Pa infection is the use of inhaled antibiotics. However, there is substantial lung disease heterogeneity within and between patients that likely impacts deposition patterns of inhaled antibiotics. Therefore, this may result in airways below the minimal inhibitory concentration of the inhaled agent. Very little is known about antibiotic concentrations in small airways, in particular the effect of structural lung abnormalities. We therefore aimed to develop a patient-specific airway model to predict concentrations of inhaled antibiotics and to study the impact of structural lung changes and breathing profile on local concentrations in airways of patients with CF.In- and expiratory CT-scans of children with CF (5-17 years were scored (CF-CT score, segmented and reconstructed into 3D airway models. Computational fluid dynamic (CFD simulations were performed on 40 airway models to predict local Aztreonam lysine for inhalation (AZLI concentrations. Patient-specific lobar flow distribution and nebulization of 75 mg AZLI through a digital Pari eFlow model with mass median aerodynamic diameter range were used at the inlet of the airway model. AZLI concentrations for central and small airways were computed for different breathing patterns and airway surface liquid thicknesses.In most simulated conditions, concentrations in both central and small airways were well above the minimal inhibitory concentration. However, small airways in more diseased lobes were likely to receive suboptimal AZLI. Structural lung disease and increased tidal volumes, respiratory rates and larger particle sizes greatly reduced small airway concentrations.CFD modeling showed that concentrations of inhaled antibiotic delivered to the small airways are highly patient specific and vary throughout the bronchial tree. These results

  9. 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.

  10. Gray hair and acrodermatitis enteropathica-like dermatitis: an unexpected presentation of cystic fibrosis.

    Science.gov (United States)

    Dalgic, Buket; Egritas, Odul

    2011-10-01

    Presentation of cystic fibrosis (CF) with an acrodermatitis enteropathica-like skin rash, anemia, and hypoproteinemia without pulmonary disease is rarely reported before. We describe an 11-month-old boy with rash and edema as the presenting signs of cystic fibrosis. The interesting additional finding in our patient was the graying hair after 3 months of age. A reversal of the gray hair was observed by pancreatic enzyme replacement therapy. In conclusion, acrodermatitis-like eruption and hypoproteinemia can be a presenting sign of CF. Graying hair has not been noticed so far as a sign of CF in these patients.

  11. Stationary biofilm growth normalizes mutation frequencies and mutant prevention concentrations in Pseudomonas aeruginosa from cystic fibrosis patients.

    Science.gov (United States)

    García-Castillo, M; del Campo, R; Baquero, F; Morosini, M-I; Turrientes, M-C; Zamora, J; Cantón, R

    2011-05-01

    Bacterial biofilms play an important role in the persistent colonization of the respiratory tract in cystic fibrosis (CF) patients. The trade-offs among planktonic or sessile modes of growth, mutation frequency, antibiotic susceptibility and mutant prevention concentrations (MPCs) were studied in a well-defined collection of 42 CF Pseudomonas aeruginosa isolates. MICs of ciprofloxacin, tobramycin, imipenem and ceftazidime increased in the biofilm mode of growth, but not the MPCs of the same drugs. The mutation frequency median was significantly higher in planktonic conditions (1.1 × 10(-8)) than in biofilm (9.9 × 10(-9)) (p 0.015). Isolates categorized as hypomutable increased their mutation frequency from 3.6 × 10(-9) in the planktonic mode to 6 × 10(-8) in biofilm, whereas normomutators (from 9.4 × 10(-8) to 5.3 × 10(-8)) and hypermutators (from 1.6 × 10(-6) to 7.7 × 10(-7)) decreased their mutation frequencies in biofilm. High and low mutation frequencies in planktonic growth converge into the normomutable category in the biofilm mode of growth of CF P. aeruginosa, leading to stabilization of MPCs. This result suggests that once the biofilm mode of growth has been established, the propensity of CF P. aeruginosa populations to evolve towards resistance is not necessarily increased. © 2010 The Authors. Clinical Microbiology and Infection © 2010 European Society of Clinical Microbiology and Infectious Diseases.

  12. Pseudo-Bartter’s syndrome in patients with cystic fibrosis: A case series and review of the literature

    Directory of Open Access Journals (Sweden)

    Vilotijević-Dautović Gordana

    2015-01-01

    Full Text Available Introduction. Pseudo-Bartter syndrome (PBS is characterized by hyponatremic, hypochloremic metabolic alkalosis that mimics Bartter syndrome but with no pathology in the renal tubules. We present five patients with cystic fibrosis (CF and PBS. Cases Outline. Four children aged between three and five-and-one-half months with previously diagnosed CF and one aged 17 months with previously undiagnosed disease, were hospitalized during the summer season, with severe dehydration, oliguria, apathy and adynamia. Additionally, one of them had an ileostomy due to meconium ileus after birth. All children were on a diet without additional salt intake. Laboratory analysis on admission showed hyponatremia (115-133 mmol/L, mean 122.4 mmol/L, high plasma renin activity (229-500 pg/ml, mean 324 pg/ml and metabolic alkalosis (pH 7.5-7.6, mean 7.56 in all the patients, and in four of them high blood level of aldosterone (74-560 pg/ml, mean 295.9 pg/ml, hypokalemia (2.3-2.8 mmol/L, mean 2.6 mmol/L, hypochloremia (59-71 mmol/L, mean 66 mmol/L and low urinary sodium (5-12 mmol/L, mean 9 mmol/L. After intravenous rehydration followed by additional use of sodium and chloride in mean dosis of 1.78 mmol/kg per day, all the patients made a complete recovery. With advice for additional use of salt in the mentioned amount, the patients were discharged from the hospital. Conclusion. PBS is one of CF complications, especially in infants and young children in situations accompanied by increased sweating and/or other causes of additional loss of sodium and chlorine. Sometimes, as was the case with one of our patients, PBS may be the initial presentation form of the disease.

  13. Meropenem in cystic fibrosis patients infected with resistant Pseudomonas aeruginosa or Burkholderia cepacia and with hypersensitivity to beta-lactam antibiotics

    DEFF Research Database (Denmark)

    Ciofu, Oana; Jensen, Tim; Pressler, Tacjana

    1996-01-01

    OBJECTIVE: To assess the efficacy and safety of meropenem, administered on a compassionate basis to 62 cystic fibrosis (CF) patients (age: 24plus minus6 years) with hypersensitivity reactions to beta-lactam antibiotics and/or infection by bacteria resistant to other antibiotics. METHODS: Fifty...... in pulmonary function (as a percentage of the predictive values) was 5.6% for FEV1 (forced expiratory volume in the first second) and 8.6% for FVC (forced vital capacity). C-reactive protein and erythrocyte sedimentation rate (ESR) and leukocyte count decreased significantly. In courses administered...... complaint. The following side effects were observed: nausea (0.8%), itching (4%), rash (3.2%), drug fever (1.6%). CONCLUSIONS: Meropenem proved to be a valuable drug in the treatment of CF patients with chronic pulmonary infection with multiresistant P. aeruginosa and B. cepacia and with hypersensitivity...

  14. New frameshift CF mutation 3729delAinsTCT in a Tunisian cystic ...

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 92; Issue 1. New frameshift CF mutation 3729delAinsTCT in a Tunisian cystic fibrosis patient. Sondess Hadj Fredj Monia Boudaya Sabrine Oueslati Safa Sahnoun Chaima Sahli Hajer Siala Khedija Boussetta Amina Bibi Taieb Messaoud. Research Note Volume 92 Issue 1 April ...

  15. New frameshift CF mutation 3729delAinsTCT in a Tunisian cystic

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 92; Issue 1. New frameshift CF mutation 3729delAinsTCT in a Tunisian cystic fibrosis patient. Sondess Hadj Fredj Monia Boudaya Sabrine Oueslati Safa Sahnoun Chaima Sahli Hajer Siala Khedija Boussetta Amina Bibi Taieb Messaoud. Research Note Volume 92 Issue 1 April ...

  16. Growth factors in cystic fibrosis

    Directory of Open Access Journals (Sweden)

    Negar Khalighi

    2016-01-01

    Full Text Available Introduction: Cystic fibrosis is one of the most common autosomal recessive diseases that affects sweat glands and mucosa. CF is a hereditary disease with annual incidence of about 2500 new cases in United Kingdom. Insulin-like growth factor-1 (IGF-1 and insulin-like growth factor binding protein-3 levels decrease in CF. The aim of this study was to assess the role of growth peptides in patients with CF. Method: We searched PubMed, Google scholar, IranMedex, and Scientific Information Database (SID in September 2012 to April 2014. We included clinical studies with available abstracts and full texts that were in English or Persian languages. Manual searching was conducted within the reference lists of articles. Two reviewers independently applied eligibility criteria, assessed quality, and extracted data.Result: The earliest study was published in 1997 and the most recent one was in 2014. Study participants were adults in 3 studies (20% and 12 studies (80% were conducted in children. Patients with CF have lower levels of IGF-1 and there is a significant correlation between IGF-1 levels and growth index in patients with CF.Conclusions: IGF-1 decreases in children with CF and might be the cause of poor growth and low body mass index in these children.

  17. Challenges in Laboratory Detection of Fungal Pathogens in the Airways of Cystic Fibrosis Patients.

    Science.gov (United States)

    Chen, Sharon C-A; Meyer, Wieland; Pashley, Catherine H

    2018-02-01

    Study of the clinical significance of fungal colonization/infection in the airways of cystic fibrosis (CF) patients, especially by filamentous fungi, is challenged by the absence of standardized methodology for the detection and identification of an ever-broadening range of fungal pathogens. Culture-based methods remain the cornerstone diagnostic approaches, but current methods used in many clinical laboratories are insensitive and unstandardized, rendering comparative studies unfeasible. Guidelines for standardized processing of respiratory specimens and for their culture are urgently needed and should include recommendations for specific processing procedures, inoculum density, culture media, incubation temperature and duration of culture. Molecular techniques to detect fungi directly from clinical specimens include panfungal PCR assays, multiplex or pathogen-directed assays, real-time PCR, isothermal methods and probe-based assays. In general, these are used to complement culture. Fungal identification by DNA sequencing methods is often required to identify cultured isolates, but matrix-assisted laser desorption/ionization time-of-flight mass spectrometry is increasingly used as an alternative to DNA sequencing. Genotyping of isolates is undertaken to investigate relatedness between isolates, to pinpoint the infection source and to study the population structure. Methods range from PCR fingerprinting and amplified fragment length polymorphism analysis, to short tandem repeat typing, multilocus sequencing typing (MLST) and whole genome sequencing (WGS). MLST is the current preferred method, whilst WGS offers best case resolution but currently is understudied.

  18. Pseudomonas aeruginosa adaptation to lungs of cystic fibrosis patients leads to lowered resistance to phage and protist enemies.

    Directory of Open Access Journals (Sweden)

    Ville-Petri Friman

    Full Text Available Pathogenic life styles can lead to highly specialized interactions with host species, potentially resulting in fitness trade-offs in other ecological contexts. Here we studied how adaptation of the environmentally transmitted bacterial pathogen, Pseudomonas aeruginosa, to cystic fibrosis (CF patients affects its survival in the presence of natural phage (14/1, ΦKZ, PNM and PT7 and protist (Tetrahymena thermophila and Acanthamoebae polyphaga enemies. We found that most of the bacteria isolated from relatively recently intermittently colonised patients (1-25 months, were innately phage-resistant and highly toxic for protists. In contrast, bacteria isolated from long time chronically infected patients (2-23 years, were less efficient in both resisting phages and killing protists. Moreover, chronic isolates showed reduced killing of wax moth larvae (Galleria mellonella probably due to weaker in vitro growth and protease expression. These results suggest that P. aeruginosa long-term adaptation to CF-lungs could trade off with its survival in aquatic environmental reservoirs in the presence of microbial enemies, while lowered virulence could reduce pathogen opportunities to infect insect vectors; factors that are both likely to result in poorer environmental transmission. From an applied perspective, phage therapy could be useful against chronic P. aeruginosa lung infections that are often characterized by multidrug resistance: chronic isolates were least resistant to phages and their poor growth will likely slow down the emergence of beneficial resistance mutations.

  19. Macrolides decrease the minimal inhibitory concentration of anti-pseudomonal agents against Pseudomonas aeruginosa from cystic fibrosis patients in biofilm

    Directory of Open Access Journals (Sweden)

    Lutz Larissa

    2012-09-01

    Full Text Available Abstract Background Biofilm production is an important mechanism for bacterial survival and its association with antimicrobial resistance represents a challenge for the patient treatment. In this study we evaluated the in vitro action of macrolides in combination with anti-pseudomonal agents on biofilm-grown Pseudomonas aeruginosa recovered from cystic fibrosis (CF patients. Results A total of 64 isolates were analysed. The biofilm inhibitory concentration (BIC results were consistently higher than those obtained by the conventional method, minimal inhibitory concentration, (MIC for most anti-pseudomonal agents tested (ceftazidime: P = 0.001, tobramycin: P = 0.001, imipenem: P P = 0.005. When macrolides were associated with the anti-pseudomonal agents, the BIC values were reduced significantly for ceftazidime (P  0.001 and tobramycin (P  0.001, regardless the concentration of macrolides. Strong inhibitory quotient was observed when azithromycin at 8 mg/L was associated with all anti-pseudomonal agents tested in biofilm conditions. Conclusions P. aeruginosa from CF patients within biofilms are highly resistant to antibiotics but macrolides proved to augment the in vitro activity of anti-pseudomonal agents.

  20. The Role of Computed Tomography in Monitoring Patients with Cystic Fibrosis

    International Nuclear Information System (INIS)

    Rybacka, Anna; Karmelita-Katulska, Katarzyna

    2016-01-01

    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 findings are more sensitive as compared to the pulmonary function tests. Computed tomography can identify a wide range of morphological abnormalities in patients with cystic fibrosis, such as bronchiectasis (which is progressive, irreversible and probably the most relevant structural change in cystic fibrosis) peribronchial thickening, mucous plugging and many other disorders that occur in the course of the disease. Computed tomography has a crucial role in the assessment of pulmonary damage over time, detecting complications and monitoring treatment effects in patients with cystic fibrosis

  1. Persistence of hepatic fibrosis in pediatric intestinal failure patients treated with intravenous fish oil lipid emulsion.

    Science.gov (United States)

    Belza, Christina; Thompson, Rory; Somers, Gino R; de Silva, Nicole; Fitzgerald, Kevin; Steinberg, Karen; Courtney-Martin, Glenda; Wales, Paul W; Avitzur, Yaron

    2017-05-01

    Pediatric intestinal failure (PIF) is a life-altering chronic condition with significant morbidity and mortality. Omegaven® therapy has been used to treat children with advanced intestinal failure associated liver disease. Our objective was to determine the evolution of hepatic fibrosis in PIF patients who received Omegaven® and describe their clinical outcome. A retrospective review in PIF patients who received Omegaven® was performed. Patients were included if they had liver biopsies completed before Omegaven® therapy and after resolution of hyperbilirubinemia. Biopsy results were evaluated to determine the degree of fibrosis, inflammation, and cholestasis. Clinical and biochemical data was collected. Six patients were identified. Assessment of fibrosis at last follow-up demonstrated improvement in 2 patients and progression or stable fibrosis in 4/6. All patients demonstrated reduction in cholestasis and inflammation. One patient received a liver/intestine transplant and a second is listed, both of them with progressive fibrosis. One patient achieved full enteral nutrition, while the rest remain partially parenteral nutrition dependent. Use of Omegaven® is associated with reduced cholestasis and inflammation, but with persistence or worsening of fibrosis in some patients. A subset of patients with progressive fibrosis may develop portal hypertension and progressive liver disease. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. 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.

  3. Short-term effects of splenectomy on serum fibrosis indexes in liver cirrhosis patients.

    Science.gov (United States)

    Kong, Degang; Chen, Xiuli; Lu, Shichun; Guo, Qingliang; Lai, Wei; Wu, Jushan; Lin, Dongdong; Zeng, Daobing; Duan, Binwei; Jiang, Tao; Cao, Jilei

    2015-01-01

    To determine the changing patterns of 4 liver fibrosis markers pre and post splenectomy (combined with pericardial devascularization [PCDV]) and to examine the short-term effects of splenectomy on liver fibrosis. Four liver fibrosis markers of 39 liver cirrhosis patients were examined pre, immediately post, 2 days post, and 1 week post (15 cases) splenectomy (combined with PCDV). The laminin (LN) level decreased immediately post surgery compared with the preoperative LN level (P splenectomy showed characteristic changes, splenectomy may transiently initiate the degradation process of liver fibrosis.

  4. Individual pharmacokinetic variation leads to underdosing of ciprofloxacin in some cystic fibrosis patients

    DEFF Research Database (Denmark)

    Schultz, Anders Nikolai Ørsted; Høiby, N; Nielsen, X C

    2017-01-01

    BACKGROUND: Ciprofloxacin (CIP) is frequently used when treating cystic fibrose (CF) patients with intermittent Pseudomonas aeruginosa (P. aeruginosa) lung colonization. However, approximately 20% of the patients progress to chronic infection despite early intervention. The aim of this study, was...

  5. Serum concentrations of GM-CSF and G-CSF correlate with the Th1/Th2 cytokine response in cystic fibrosis patients with chronic Pseudomonas aeruginosa lung infection

    DEFF Research Database (Denmark)

    Moser, Claus; Jensen, Peter Østrup; Pressler, Tacjana

    2005-01-01

    The inflammation in cystic fibrosis (CF) patients with chronic Pseudomonas aeruginosa lung infection is dominated by polymorphonuclear neutrophils (PMNs). There seems to be a relationship between the PMN-dominated inflammation, pronounced antibody production and a Th2-dominated response. Apart fr...... lung function. In addition, an inverse correlation between IL-3 and IFN-gamma was observed. The results indicate involvement of endogenous GM-CSF, G-CSF and IL-3 in the skewed Th response in CF, and change to a Th1-dominated response might be achieved with GM-CSF treatment....

  6. [News in cystic fibrosis].

    Science.gov (United States)

    Delaisi, B

    2013-08-01

    The improvement over the last two decades in the treatment of cystic fibrosis led to an increase in life expectancy approaching 40 years at birth. Logically, the population of adult patients has been increasing and is currently 50% of patients followed in France. These therapeutic advances have justified the establishment in 2003 of a generalized neonatal screening for cystic fibrosis. The latest data of this screening show an incidence of CF of 1/5359 live births, far below the incidence of 1/2500 which was widely accepted twenty years ago. The performance of this screening is currently based on the dosage of trypsin immuno reactive, followed in case of exceeding the threshold of a search of the 30 most common mutations, can detect around 96% of 150 to 200 CF cases every year. Therefore, the possibility of a false negative of the screening cannot be excluded and evocative symptoms of cystic fibrosis, even for children born after 2003, will lead to prescribe a sweat test. While treatments available so far goal consequences of cystic fibrosis, a new therapeutic class to correct the functional defect of the mutated protein, called CFTR modulators, is emerging. Ivacaftor, leader of this new class, belonging to the category of "CFTR potentiator" got its access on the market in September 2012 for patients carrying the G551D mutation. New other molecules, named "CFTR correctors" which can have synergistic effect with ivacaftor and concern patients carrying the most common mutation--DF 508--are under development. Copyright © 2013. Published by Elsevier Masson SAS.

  7. Effects of nutritional status and dietetic interventions on survival in Cystic Fibrosis patients before and after lung transplantation.

    Science.gov (United States)

    Hollander, F M; van Pierre, D D; de Roos, N M; van de Graaf, E A; Iestra, J A

    2014-03-01

    This study retrospectively investigated nutritional status, dietetic intervention and intake in Cystic Fibrosis (CF) patients before and after lung transplantation (LTX). Body Mass Index (BMI), Fat Free Mass Index (FFMI) and nutritional intake were retrieved from 75 out-patients aged 15-53 years. Patients were seen every 3-4 months during the waiting list time (range 0-81 months) and up to 116 months after LTX. Survival was measured in months. The median BMI at baseline was 19.2 kg/m(2) (range: 15.3 to 28.4 kg/m(2)) with 29 patients (39%) below ≤18.5 kg/m(2). FFMI (measured in 65 patients) had a median of 15.2 kg/m(2) (range: 11.1 to 22.4 kg/m(2)) with 39 patients (60%) ≤16.7 kg/m(2) (men) or ≤14.6 kg/m(2) (women). Median energy intake was 2800 kcal, 239 kcal higher than the estimated energy requirement. However, 8 patients consumed ≥500 kcal less than recommended. Protein intake was 104 (range 60-187) g or 1.9 g/kg per day. Despite dietetic intervention with oral nutritional supplements (ONS) (36 patients), tube feeding (12 patients), or both (13 patients), BMI and FFMI hardly improved pre-LTX. LTX was performed in 51 patients (68%); 10 patients died during follow-up, median survival time was 41 months. A BMI ≤18.5 kg/m(2) was more prevalent in patients who died before LTX (6/9) or who died after LTX (4/10) than in patients who were still alive on the waiting list (5/15) or who survived LTX (14/41). Results for FFMI were comparable. From 6-12 months post-LTX, BMI and FFMI markedly improved, especially in underweight patients. A BMI ≤18.5 kg/m(2) and an FFMI ≤16.7 kg/m(2) (men) or ≤14.6 kg/m(2) (women) appears to impair survival in LTX candidates with CF. Patients maintained a low body weight before LTX. After LTX weight gain is achieved. © 2013. Published by Elsevier B.V. on behalf of European Cystic Fibrosis Society. All rights reserved.

  8. Cystic fibrosis and renal disease: a case report

    Directory of Open Access Journals (Sweden)

    Al-Shawwa Baha A

    2007-06-01

    Full Text Available Abstract Background Cystic fibrosis (CF is an autosomal recessive disease that is predominantly seen in the Caucasian population and involves multiple organs. Traditionally it has been thought that the kidney is the only organ which does not seem to be generally affected by the disease although the cystic fibrosis transmembrane conductance regulator (CFTR gene is expressed in the kidney. Case presentation We report the case of an 11 year old boy with cystic fibrosis and nephrotic syndrome and review the literature that describes nephrotic syndrome and renal involvement in cystic fibrosis. Conclusion With continued advances in the management of cystic fibrosis and improvement in life expectancy, several unrecognized co-morbidities are expected to emerge. It is important to screen patients for possible co-morbidities. Urine analysis may be helpful in this group of patients and any proteinuria should raise the suspicion of cystic fibrosis-related renal disease.

  9. Cystic fibrosis school for 10-year-olds

    DEFF Research Database (Denmark)

    Bregnballe, Vibeke; Schiøtz, Peter Oluf

    2000-01-01

    the children about the respiratory system in CF. They take physiotherapi together and go to the swimmingpool. The dietician and the nurse teach the children about the digestive system in CF and they cook together. The children learn about genetics, liver problems, infertility etc from the doctor and the nurse......Compliance or rather lack of compliance has always been a problem when treating patients with cystic fibrosis. The patients tend to drop the treatment more or less if the treatment gets too complicated or laboured. We have attempted a systematical education of our patients in a CF school...

  10. 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

  11. CFTR Modulators: Shedding Light on Precision Medicine for Cystic Fibrosis

    Science.gov (United States)

    Lopes-Pacheco, Miquéias

    2016-01-01

    Cystic fibrosis (CF) is the most common life-threatening monogenic disease afflicting Caucasian people. It affects the respiratory, gastrointestinal, glandular and reproductive systems. The major cause of morbidity and mortality in CF is the respiratory disorder caused by a vicious cycle of obstruction of the airways, inflammation and infection that leads to epithelial damage, tissue remodeling and end-stage lung disease. Over the past decades, life expectancy of CF patients has increased due to early diagnosis and improved treatments; however, these patients still present limited quality of life. Many attempts have been made to rescue CF transmembrane conductance regulator (CFTR) expression, function and stability, thereby overcoming the molecular basis of CF. Gene and protein variances caused by CFTR mutants lead to different CF phenotypes, which then require different treatments to quell the patients’ debilitating symptoms. In order to seek better approaches to treat CF patients and maximize therapeutic effects, CFTR mutants have been stratified into six groups (although several of these mutations present pleiotropic defects). The research with CFTR modulators (read-through agents, correctors, potentiators, stabilizers and amplifiers) has achieved remarkable progress, and these drugs are translating into pharmaceuticals and personalized treatments for CF patients. This review summarizes the main molecular and clinical features of CF, emphasizes the latest clinical trials using CFTR modulators, sheds light on the molecular mechanisms underlying these new and emerging treatments, and discusses the major breakthroughs and challenges to treating all CF patients. PMID:27656143

  12. Meropenem in cystic fibrosis patients infected with resistant Pseudomonas aeruginosa or Burkholderia cepacia and with hypersensitivity to beta-lactam antibiotics

    DEFF Research Database (Denmark)

    Ciofu, Oana; Jensen, Tim; Pressler, Tacjana

    1996-01-01

    OBJECTIVE: To assess the efficacy and safety of meropenem, administered on a compassionate basis to 62 cystic fibrosis (CF) patients (age: 24plus minus6 years) with hypersensitivity reactions to beta-lactam antibiotics and/or infection by bacteria resistant to other antibiotics. METHODS: Fifty......), ciprofloxacin 1.2 (9.7), piperacillin 49 (16.3), ceftazidime 26 (23), aztreonam 26 (35), imipenem 6.4 (not determined) and meropenem 5.1 (4.8). No statistically significant increase in the MICs of meropenem for either pathogen occurred during therapy. Of the 124 courses, 115 were tolerated without any clinical...

  13. Surgical Outcomes of Lung Cancer Patients with Combined Pulmonary Fibrosis and Emphysema and Those with Idiopathic Pulmonary Fibrosis without Emphysema.

    Science.gov (United States)

    Sato, Seijiro; Koike, Terumoto; Hashimoto, Takehisa; Ishikawa, Hiroyuki; Okada, Akira; Watanabe, Takehiro; Tsuchida, Masanori

    2016-08-23

    Combined pulmonary fibrosis and emphysema (CPFE) is a unique disorder. The aim of this study was to compare the surgical outcomes of lung cancer patients with CPFE and those with idiopathic pulmonary fibrosis (IPF) without emphysema. A total of 1548 patients who underwent surgery for primary lung cancer between January 2001 and December 2012 were retrospectively reviewed. Of the 1548 patients, 55 (3.6%) had CPFE on computed tomography (CT), and 45 (2.9%) had IPF without emphysema. The overall and disease-free 5-year survival rates for patients with CPFE were not significantly worse than those for patients with IPF without emphysema (24.9% vs. 36.8%, p = 0.814; 39.8% vs. 39.3%, p = 0.653, respectively). Overall, 21 (38.1%) patients with CPFE and nine patients (20.0%) with IPF without emphysema developed postoperative cardiopulmonary complications. Patients with CPFE had significantly more postoperative cardiopulmonary complications involving pulmonary air leakage for >6 days, hypoxemia, and arrhythmia than patients with IPF without emphysema (p = 0.048). There was no significant difference in survival after surgical treatment between CPFE patients and IPF patients without emphysema, but CPFE patients had significantly higher morbidity than IPF patients without emphysema.

  14. Social and economic costs and health-related quality of life in non-institutionalised patients with cystic fibrosis in the United Kingdom.

    Science.gov (United States)

    Angelis, Aris; Kanavos, Panos; López-Bastida, Julio; Linertová, Renata; Nicod, Elena; Serrano-Aguilar, Pedro

    2015-09-28

    This study aimed to determine the societal economic burden and health-related quality of life (HRQOL) of cystic fibrosis (CF) patients in the UK. A bottom-up cost-of-illness, cross-sectional, retrospective analysis of 74 patients was conducted aiming to estimate the economic impact of CF. Data on demographic characteristics, health resource utilisation, informal care, productivity losses and HRQOL were collected from questionnaires completed by patients or their caregivers. HRQOL was measured with the EuroQol 5-domain (EQ-5D) instrument. Using unit costs for 2012 we found that the average annual cost for a CF patient was €48,603, with direct health care costs amounting to €20,854 (42.9 % of total costs), direct non-health care costs being €21,528 (44.3 %) and indirect costs attributable to productivity losses being €6,222 (12.8 %). On average, the largest expenditures by far were accounted for by informal care (44.1 %), followed by medications (14.5 %), acute hospitalisations (13.9 %), early retirement (9.1 %) and outpatient and primary health care visits (7.9 %). Sharp differences existed depending on whether CF patients were in need of caregiver help (€76,271 versus €26,335). In adult CF patients, mean EQ-5D index scores were 0.64 (0.93 in the general population) and mean EQ-5D visual analogue scale scores were 62.23 (86.84 in the general population); among caregivers, these scores were 0.836 and 80.85, respectively. Our analysis highlights the importance of the economic and quality of life consequences of CF from a societal perspective. The results highlight that beyond conventional costs such as acute hospitalisations, medication and outpatient and primary care visits, indirect costs related to informal care and early retirement, have significant societal implications. Similarly, our analysis showed that the average EQ-5D index score of adult CF patients was significantly lower than in the general population, an indication that a methodological bias

  15. Are simple noninvasive scoring systems for fibrosis reliable in patients with NAFLD and normal ALT levels?

    Science.gov (United States)

    McPherson, Stuart; Anstee, Quentin M; Henderson, Elsbeth; Day, Christopher P; Burt, Alastair D

    2013-06-01

    Nonalcoholic fatty liver disease (NAFLD) is common and many affected individuals have normal-range alanine aminotransferase (ALT) levels. There is a need for a robust screening tool to triage individuals with advanced fibrosis for specialist care. The aim of this study was to assess the performance of noninvasive fibrosis tests in patients with biopsy-proven NAFLD and normal levels of ALT. Patients presenting at a fatty liver clinic between 1999 and 2009 were included in the study. Liver biopsies were assessed using the Kleiner score. The aspartate aminotransferase (AST)/ALT ratio, BARD, FIB-4 and NAFLD fibrosis scores were calculated. A total of 305 patients were included [70 with normal ALT levels (women: ALT≤30 IU/l, men: ALT≤45 IU/l) and 235 with elevated levels]. In total, 24% of patients with normal ALT levels and 17% of those with elevated ALT levels had advanced fibrosis (Kleiner stage 3-4). The FIB-4 performed best in identifying advanced fibrosis in patients with normal ALT (area under receiver operating characteristic curve=0.86, 82% sensitivity, 77% specificity and 92% negative predictive value). The sensitivity of the AST/ALT ratio and BARD and NAFLD fibrosis scores for advanced fibrosis was good in patients with normal ALT levels (94, 94 and 82%, respectively), but the specificity was low (44, 26 and 51%, respectively). The FIB-4 yielded best results in patients with elevated ALT levels. Using the FIB-4, 61% of patients with normal ALT levels and 63% of those with elevated ALT levels could avoid liver biopsy to exclude advanced fibrosis. In contrast, AST/ALT ratio and BARD and NAFLD scores would have led to a high proportion of patients with mild disease having to undergo a biopsy. The FIB-4 yielded good results in patients with normal or elevated ALT levels, reliably excluding advanced fibrosis and reducing the need for liver biopsy.

  16.  High prevalence of undiagnosed liver cirrhosis and advanced fibrosis in type 2 diabetic patients.

    Science.gov (United States)

    Arab, Juan P; Barrera, Francisco; Gallego, Consuelo; Valderas, Juan P; Uribe, Sergio; Tejos, Cristian; Serrano, Cristóbal; Serrano, Cristóbal; Huete, Álvaro; Liberona, Jessica; Labbé, Pilar; Quiroga, Teresa; Benítez, Carlos; Irarrázaval, Pablo; Riquelme, Arnoldo; Arrese, Marco

    2016-01-01

     Background. Patients with type 2 diabetes mellitus (T2DM) are at risk for developing end-stage liver disease due to nonalcoholic steatohepatitis (NASH), the aggressive form of non-alcoholic fatty liver disease (NAFLD). Data on prevalence of advanced fibrosis among T2DM patients is scarce. To evaluate prevalence of steatosis, advanced fibrosis and cirrhosis using non-invasive methods in T2DM patients. 145 consecutive T2DM patients (> 55 years-old) were prospectively recruited. Presence of cirrhosis and advanced fibrosis was evaluated by magnetic resonance imaging (MRI) and NAFLD fibrosis score (NFS) respectively. Exclusion criteria included significant alcohol consumption, markers of viral hepatitis infection or other liver diseases. Results are expressed in percentage or median (interquartile range). 52.6% of patients were women, the median age was 60 years old (57-64), mean BMI was 29.6 ± 4.7 kg/m2 and diabetes duration was 7.6 ± 6.9 years. A high prevalence of liver steatosis (63.9%), advanced fibrosis assessed by NFS (12.8%) and evidence of liver cirrhosis in MRI (6.0%) was observed. In a multivariate analysis GGT > 82 IU/L (P = 0.004) and no alcohol intake (P = 0.032) were independently associated to advanced fibrosis. A high frequency of undiagnosed advanced fibrosis and cirrhosis was observed in non-selected T2DM patients. Screening of these conditions may be warranted in this patient population.

  17. Correlation between ultrasound imaging and serum markers of liver fibrosis in patients with chronic hepatitis B

    Directory of Open Access Journals (Sweden)

    Jian-Xia Liu

    2016-03-01

    Full Text Available Objective: To investigate the clinical value of ultrasonic imaging in the assessment of liver fibrosis in patients with chronic hepatitis B. Methods: A total of 20 cases of liver biopsy in chronic hepatitis B, according to the degree of hepatic fibrosis were divided into mild hepatic fibrosis group, moderate fibrosis group, severe fibrosis group, the other selected healthy volunteers as control group, using color Doppler ultrasound, the use of imaging technology and automatic tracking. Strengthen the quantitative analysis, using the second generation microbubble contrast agent SonoVue contrast analysis, contrast agent reach the portal time (PVAT, hepatic artery time (HAAT, hepatic vein (HVVT, the calculation time of hepatic arteriovenous transit time (VAT and hepatic portal vein transit time (VVT, using chemiluminescence detection of serum liver fiber hyaluronic acid (HA, laminin (LN and collagen type IV (CIV index. Results: there was no significant difference in HAAT, PVAT, VAT, VVT and HVAT in all groups, and there was no significant difference, mild, moderate and severe liver fibrosis group, and HA, LN and C levels were significantly higher than those in control group. Conclusion: serum liver fibrosis indexes can guide the degree of liver fibrosis. The ultrasound contrast can reflect the changes of liver blood flow dynamics, and it has a certain guiding significance to the assessment of the degree of liver fibrosis, the monitoring of the disease and the clinical treatment.

  18. Scedosporium boydii CatA1 and SODC recombinant proteins, new tools for serodiagnosis of Scedosporium infection of patients with cystic fibrosis.

    Science.gov (United States)

    Mina, Sara; Staerck, Cindy; Marot, Agnès; Godon, Charlotte; Calenda, Alphonse; Bouchara, Jean-Philippe; Fleury, Maxime J J

    2017-12-01

    Scedosporium species rank the second among the filamentous fungi colonizing the airways of patients with cystic fibrosis (CF), after Aspergillus fumigatus. In CF, these fungi may cause various respiratory infections similar to those caused by A. fumigatus, including bronchitis and allergic broncho-pulmonary mycoses. Diagnosis of these infections relies on the detection of serum antibodies using crude antigenic extracts. However, many components of these extracts are common to Scedosporium and Aspergillus species, leading to cross-reactions. Here, 5 recombinant proteins from S. apiospermum or S. boydii were produced, and their value in serodiagnosis of Scedosporium infections was investigated by enzyme-linked immunosorbent assay. Two of them, corresponding to the Scedosporium catalase A1 or cytosolic Cu,Zn-superoxyde dismutase, allowed the detection of Scedosporium infection, and the differentiation with an Aspergillus infection. These recombinant proteins therefore may serve as a basis for the development of a standardized serological test. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. 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...

  20. 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...

  1. Culture Enriched Molecular Profiling of the Cystic Fibrosis Airway Microbiome

    OpenAIRE

    Sibley, Christopher D.; Grinwis, Margot E.; Field, Tyler R.; Eshaghurshan, Christina S.; Faria, Monica M.; Dowd, Scot E.; Parkins, Michael D.; Rabin, Harvey R.; Surette, Michael G.

    2011-01-01

    The microbiome of the respiratory tract, including the nasopharyngeal and oropharyngeal microbiota, is a dynamic community of microorganisms that is highly diverse. The cystic fibrosis (CF) airway microbiome refers to the polymicrobial communities present in the lower airways of CF patients. It is comprised of chronic opportunistic pathogens (such as Pseudomonas aeruginosa) and a variety of organisms derived mostly from the normal microbiota of the upper respiratory tract. The complexity of t...

  2. The altered gut microbiota in adults with cystic fibrosis.

    Science.gov (United States)

    Burke, D G; Fouhy, F; Harrison, M J; Rea, M C; Cotter, P D; O'Sullivan, O; Stanton, C; Hill, C; Shanahan, F; Plant, B J; Ross, R P

    2017-03-09

    Cystic Fibrosis (CF) is an autosomal recessive disease that affects the function of a number of organs, principally the lungs, but also the gastrointestinal tract. The manifestations of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction in the gastrointestinal tract, as well as frequent antibiotic exposure, undoubtedly disrupts the gut microbiota. To analyse the effects of CF and its management on the microbiome, we compared the gut microbiota of 43 individuals with CF during a period of stability, to that of 69 non-CF controls using 454-pyrosequencing of the 16S rRNA gene. The impact of clinical parameters, including antibiotic therapy, on the results was also assessed. The CF-associated microbiome had reduced microbial diversity, an increase in Firmicutes and a reduction in Bacteroidetes compared to the non-CF controls. While the greatest number of differences in taxonomic abundances of the intestinal microbiota was observed between individuals with CF and the healthy controls, gut microbiota differences were also reported between people with CF when grouped by clinical parameters including % predicted FEV 1 (measure of lung dysfunction) and the number of intravenous (IV) antibiotic courses in the previous 12 months. Notably, CF individuals presenting with severe lung dysfunction (% predicted FEV 1  ≤ 40%) had significantly (p gut microbiota diversity relative to those presenting with mild or moderate dysfunction. A significant negative correlation (-0.383, Simpson's Diversity Index) was also observed between the number of IV antibiotic courses and gut microbiota diversity. This is one of the largest single-centre studies on gut microbiota in stable adults with CF and demonstrates the significantly altered gut microbiota, including reduced microbial diversity seen in CF patients compared to healthy controls. The data show the impact that CF and it's management have on gut microbiota, presenting the opportunity to develop CF specific

  3. 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.

  4. Paediatric nasal polyps in cystic fibrosis.

    Science.gov (United States)

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

    2016-06-21

    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. 2016 BMJ Publishing Group Ltd.

  5. Nutritional Status Improved in Cystic Fibrosis Patients with the G551D Mutation After Treatment with Ivacaftor

    NARCIS (Netherlands)

    Borowitz, Drucy; Lubarsky, Barry; Wilschanski, Michael; Munck, Anne; Gelfond, Daniel; Bodewes, Frank; Schwarzenberg, Sarah Jane

    The cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gating mutation G551D prevents sufficient ion transport due to reduced channel-open probability. Ivacaftor, an oral CFTR potentiator, increases the channel-open probability. To further analyze improvements in weight and body mass

  6. Normal sweat chloride test does not rule out cystic fibrosis.

    Science.gov (United States)

    Başaran, Abdurrahman Erdem; Karataş-Torun, Nimet; Maslak, İbrahim Cemal; Bingöl, Ayşen; Alper, Özgül M

    2017-01-01

    Başaran AE, Karataş-Torun N, Maslak İC, Bingöl A, Alper ÖM. Normal sweat chloride test does not rule out cystic fibrosis. Turk J Pediatr 2017; 59: 68-70. A 5-month-old patient presented with complaints of fever and cough. He was hospitalized with the diagnosis of bronchopneumonia and pseudo-Bartter's syndrome. Patient was further investigated for diagnosis of cystic fibrosis. The chloride (Cl) level in sweat was determined within the normal range (25.1 mmol/L, 20.3 mmol/L). CFTR (Cystic Fibrosis Transmembrane Regulator gene; NM_000492.2) genotyping results were positive for p.E92K; p.F1052V mutations. The patient was diagnosed with cystic fibrosis. In our patient, with features of CF and normal sweat test, mutation analysis was helpful for the diagnosis of cystic fibrosis.

  7. Cystic fibrosis: a clinical view.

    Science.gov (United States)

    Castellani, Carlo; Assael, Baroukh M

    2017-01-01

    Cystic fibrosis (CF), a monogenic disease caused by mutations in the CFTR gene on chromosome 7, is complex and greatly variable in clinical expression. Airways, pancreas, male genital system, intestine, liver, bone, and kidney are involved. The lack of CFTR or its impaired function causes fat malabsorption and chronic pulmonary infections leading to bronchiectasis and progressive lung damage. Previously considered lethal in infancy and childhood, CF has now attained median survivals of 50 years of age, mainly thanks to the early diagnosis through neonatal screening, recognition of mild forms, and an aggressive therapeutic attitude. Classical treatment includes pancreatic enzyme replacement, respiratory physiotherapy, mucolitics, and aggressive antibiotic therapy. A significant proportion of patients with severe symptoms still requires lung or, less frequently, liver transplantation. The great number of mutations and their diverse effects on the CFTR protein account only partially for CF clinical variability, and modifier genes have a role in modulating the clinical expression of the disease. Despite the increasing understanding of CFTR functioning, several aspects of CF need still to be clarified, e.g., the worse outcome in females, the risk of malignancies, the pathophysiology, and best treatment of comorbidities, such as CF-related diabetes or CF-related bone disorder. Research is focusing on new drugs restoring CFTR function, some already available and with good clinical impact, others showing promising preliminary results that need to be confirmed in phase III clinical trials.

  8. 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

  9. Sequence diversity of the mucABD locus in Pseudomonas aeruginosa isolates from patients with cystic fibrosis.

    Science.gov (United States)

    Bragonzi, Alessandra; Wiehlmann, Lutz; Klockgether, Jens; Cramer, Nina; Worlitzsch, Dieter; Döring, Gerd; Tümmler, Burkhard

    2006-11-01

    The mucA gene of the muc operon, which is instrumental in the control of the biosynthesis of the exopolysaccharide alginate, is a hotspot of mutation in Pseudomonas aeruginosa, a micro-organism that chronically colonizes the airways of individuals with cystic fibrosis (CF). The mucA, mucB and mucD genes were sequenced in nine environmental isolates from aquatic habitats, and in 37 P. aeruginosa strains isolated from 10 patients with CF, at onset or at a late stage of chronic airway colonization, in order to elucidate whether there was any association between mutation and background genotype. The 61 identified single nucleotide polymorphisms (SNPs) segregated into 18 mucABD genotypes. Acquired and de novo stop mucA mutations were present in 14 isolates (38 %) of five mucABD genotypes. DeltaG430 was the most frequent and recurrent mucA mutation detected in four genotypes. The classification of strains by mucABD genotype was generally concordant with that by genome-wide SpeI fragment pattern or multilocus SNP genotypes. The exceptions point to intragenic mosaicism and interclonal recombination as major forces for intraclonal evolution at the mucABD locus.

  10. The influence of allotypes on the IgG subclass response to chromosomal beta-lactamase of Pseudomonas aeruginosa in cystic fibrosis patients

    DEFF Research Database (Denmark)

    Ciofu, O; Pressler, T; Pandey, J P

    1997-01-01

    Sera from 70 adult cystic fibrosis (CF) patients with chronic lung infection with Pseudomonas aeruginosa were typed for seven GM and two KM allotype determinants. IgG class and all four IgG subclasses of antibodies against chromosomal beta-lactamase of Ps. aeruginosa (a beta ab) were measured...... in all 70 CF patients in a cross-sectional study. The a beta ab IgG subclass response in sera collected during the first 11 years of chronic infection from 20 CF patients (10 patients with G3M*5 G1M*3/G3M*5 G1M*3 genotype and 10 patients with G3M*21 G1M*1/G3M*21 G1M*1 genotype) was analysed...... in a longitudinal study. Increased levels of IgG2 were associated with the presence of GM 23 allotype. IgG3 a beta ab levels were the lowest for subjects with the GM 1,2,3,17 23 5,21 and GM 1,3,17 21 phenotypes and the highest in subjects with GM 3,23,5 and GM 3,5. No significant differences in IgG1 and IgG4 a beta...

  11. Assessment of hemodynamic changes in the systemic and pulmonary arterial circulation in patients with cystic fibrosis using phase-contrast MRI

    Energy Technology Data Exchange (ETDEWEB)

    Ley, Sebastian; Eichinger, Monika [DKFZ, Department of Radiology (E010), Heidelberg (Germany); Johannes Gutenberg University, Department of Radiology, University Hospital Mainz, Mainz (Germany); Puderbach, Michael; Fink, Christian; Plathow, Christian; Kauczor, Hans-Ulrich [DKFZ, Department of Radiology (E010), Heidelberg (Germany); Teiner, Susanne [University of Heidelberg, Department of Pediatric Radiology, Heidelberg (Germany); Wiebel, Matthias [Thoraxklinik am Universitaetsklinikum, Department of Pulmonology, Heidelberg (Germany); Mueller, Frank-Michael [University of Heidelberg, Department of Pediatric Pulmonology, Heidelberg (Germany)

    2005-08-01

    Cystic fibrosis (CF) leads to disabling lung disease and pulmonary hypertension (PH). The goal of this study was to assess the hemodynamics in the systemic and pulmonary arterial circulation of patients with CF using MRI. Ten patients with CF and 15 healthy volunteers were examined (1.5-T MRI). Phase-contrast flow measurements were assessed in the ascending aorta, pulmonary trunc, and the left and right pulmonary arteries (PA), resulting in the following parameters: peak velocity (PV) (centimeters per second) velocity rise gradient (VRG), time to PV (milliseconds), and the average area (centimeters squared). The blood flow ratio between the right and left lungs and the bronchosystemic shunt were calculated. For the ascending aorta and pulmonary trunc no parameter was significantly different between both populations. In the right PA a significantly lower PV (p=0.001) and VRG (p=0.02) was found. In the left PA there was a significantly (p=0.007) lower PV but no significant (p=0.07) difference between the VRG. The areas of the right (p=0.08) and left (p=0.5) PA were not significantly enlarged. For the volunteers a linear increase of PV in both PA was found with age, while it decreased in patients with CF. The blood flow distribution (right/left lung) showed no significant (p=0.7) difference between the groups. There was a significantly (p<0.001) higher bronchosystemic shunt volume in patients with CF (1.3 l/min) than in volunteers (0.1 l/min). Magnetic resonance based flow measurements in the right and left PA showed first indications for early development of PH. The significant increase in bronchosystemic shunt volume might be indicative fo the extent of parenchymal changes. (orig.)

  12. Combination of 16S rRNA variable regions provides a detailed analysis of bacterial community dynamics in the lungs of cystic fibrosis patients

    Directory of Open Access Journals (Sweden)

    Doud Melissa S

    2010-02-01

    Full Text Available Abstract Chronic bronchopulmonary bacterial infections remain the most common cause of morbidity and mortality among patients with cystic fibrosis (CF. Recent community sequencing work has now shown that the bacterial community in the CF lung is polymicrobial. Identifying bacteria in the CF lung through sequencing can be costly and is not practical for many laboratories. Molecular techniques such as terminal restriction fragment length polymorphism or amplicon length heterogeneity-polymerase chain reaction (LH-PCR can provide many laboratories with the ability to study CF bacterial communities without costly sequencing. The aim of this study was to determine if the use of LH-PCR with multiple hypervariable regions of the 16S rRNA gene could be used to identify organisms found in sputum DNA. This work also determined if LH-PCR could be used to observe the dynamics of lung infections over a period of time. Nineteen samples were analysed with the V1 and the V1_V2 region of the 16S rRNA gene. Based on the amplicon size present in the V1_V2 region, Pseudomonas aeruginosa was confirmed to be in all 19 samples obtained from the patients. The V1 region provided a higher power of discrimination between bacterial profiles of patients. Both regions were able to identify trends in the bacterial population over a period of time. LH profiles showed that the CF lung community is dynamic and that changes in the community may in part be driven by the patient's antibiotic treatment. LH-PCR is a tool that is well suited for studying bacterial communities and their dynamics.

  13. Prevalence of DF508, G551D, G542X, and R553X mutations among cystic fibrosis patients in the North of Brazil

    Directory of Open Access Journals (Sweden)

    Araújo F.G. de

    2005-01-01

    Full Text Available Cystic fibrosis (CF is the most common genetic disease among Caucasians and is rare among sub-Saharan Africans. The Brazilian population is not ethnically homogeneous but it is the result of three-way ethnic admixture of Europeans, Africans and Amerindians in varying proportions, depending on the region. In the present study, we investigated 33 patients who had been diagnosed and are currently under treatment for CF at the University Hospital João de Barros Barreto, Belém, Pará State. The molecular analysis for G542X, G551D and R553X mutations was performed by PCR followed by RFLP using BstNI, HincII and MboI, respectively, in polyacrylamide gel eletrophoresis and stained with AgNO3. ThedeltaF508 mutation (a deletion of 3 bp was only analyzed by polyacrylamide gel electrophoresis and stained with AgNO3. Each sample was analyzed for regions of interest in the CFTR gene using amplified by PCR and specific primers. The deltaF508 and G551D mutations presented frequencies of 22.7 and 3%, respectively. In 74.3% of the remaining patients, none of the mutations investigated was found. The present study characterized in a sample of patients with an established clinical diagnosis of CF (asthma, repeated bronchopneumonia, disorders of nutritional status, etc. the most frequent mutation ( deltaF508 in the North region of Brazil and is also the first report of the G551D mutation. In spite of the wide spectrum of CF mutations and the heterogeneous ethnic origin of the Amazon population, the molecular diagnosis is a helpful additional tool for the diagnosis and treatment of CF patients.

  14. [Cystic fibrosis in 2008].

    Science.gov (United States)

    Durieu, I; Josserand, R Nove

    2008-11-01

    To describe the epidemiological, physiopathological, clinical and therapeutic knowledge concerning cystic fibrosis (CF). Important modifications in the health organization of the care concerning this orphan disease have been implemented in France. The life expectancy has dramatically increased, as well as the knowledge concerning the pathological structure and function of the CFTR gene and protein. This will lead to the development of emerging drug treatments for this lethal disease. The life expectancy is predicted to exceed 40 years for children born in the 2000s. As a result, there has been a tremendous growth of the adult population that reached 40% of the overall approximately 5000 patients included in the CF French registry (Observatoire National de la Mucoviscidose). Lung disease remains the primary cause of morbidity and mortality. The characteristic phenotypic presentation associates bronchial and rhinosinusal symptoms, pancreatic insufficiency and liver disease. Bronchial damage leads to progressive chronic respiratory insufficiency. Diabetes mellitus and osteoporosis frequently appears in adulthood. Neonatal screening has been implemented in France since 2002. It will prevent delayed diagnosis and its deleterious consequences. Some atypical cases of CF presenting only with one or two organ system involvement can be diagnosed in adulthood. Isolated chronic rhinosinusitis, bronchiectasis, congenital bilateral absence of vas deferens, recurrent pancreatitis, allergic bronchopulmonary aspergillosis, and some case of cholangitis may so revealed late form of cystic fibrosis. The health care is organized in cystic fibrosis centres. Despite gene discovery, treatment still remains symptomatic, based on intensive pulmonary and nutritional treatments. Challenges for new treatments are to correct the basic defect, either by gene therapy or by pharmacological modulation of the abnormal physiological processes.

  15. About Cystic Fibrosis

    Science.gov (United States)

    ... Research Share Back to top What Is Cystic Fibrosis? Cystic fibrosis is a progressive, genetic disease that causes ... carrier. Read more about diagnosis. According to the Cystic Fibrosis Foundation Patient Registry, in the United States: More ...

  16. The efficiency of active cycle of breathing techniques regarding the improvement the quality of life in cystic fibrosis patients

    Directory of Open Access Journals (Sweden)

    Bogdan Almăjan-Guţă

    2008-12-01

    Full Text Available Background: Physiotherapy is well known as one of the most important part of CF patient’s management. The right choice ofappropriate therapy schema will improve the life’s quality of the patients. The purpose of the study was to prove the efficiencyof Active cycle of breathing techniques at children with cystic fibrosis. The study was performed between September 2006-september 2007 and the lot of study consisted of 20 children (11 girls and 9 boys with an age range between 6 and 18 years(average 14,8 years from the records of the Cystic Fibrosis National Centre Timisoara. The results showed an improvement inall measured values: general well-being, coughing, physical signs, X-ray signs and CT, bacteriological exam, nutritional status,functional respiratory tests. The statistical briefing of data shows the fact that there are significant statistical difference (p<0,05, before and after treatment in all ventilator index. The conclusion of this study was that the chosen technique (ACTBproved to be very efficient, in improving of respiratory symptoms and ventilator parameters

  17. Assessment of CF lung disease using motion corrected PROPELLER MRI: a comparison with CT

    Energy Technology Data Exchange (ETDEWEB)

    Ciet, Pierluigi [General Hospital Ca' Foncello, Radiology Department, Treviso (Italy); Sophia Children' s Hospital, Pediatric Pulmonology Erasmus MC, Rotterdam (Netherlands); Erasmus MC, Radiology, Rotterdam (Netherlands); Serra, Goffredo; Catalano, Carlo [University of Rome ' ' Sapienza' ' , Radiology, Rome (Italy); Bertolo, Silvia; Morana, Giovanni [General Hospital Ca' Foncello, Radiology Department, Treviso (Italy); Spronk, Sandra [Erasmus MC, Radiology, Rotterdam (Netherlands); Erasmus MC, Epidemiology, Rotterdam (Netherlands); Ros, Mirco [Ca' Foncello Hospital, Pediatrics, Treviso (Italy); Fraioli, Francesco [University College London (UCL), Institute of Nuclear Medicine, London (United Kingdom); Quattrucci, Serena [University of Rome Sapienza, Pediatrics, Rome (Italy); Assael, M.B. [Azienda Ospedaliera di Verona, Verona CF Center, Verona (Italy); Pomerri, Fabio [University of Padova, Department of Medicine-DIMED, Padova (Italy); Tiddens, Harm A.W.M. [Sophia Children' s Hospital, Pediatric Pulmonology Erasmus MC, Rotterdam (Netherlands); Erasmus MC, Radiology, Rotterdam (Netherlands)

    2016-03-15

    To date, PROPELLER MRI, a breathing-motion-insensitive technique, has not been assessed for cystic fibrosis (CF) lung disease. We compared this technique to CT for assessing CF lung disease in children and adults. Thirty-eight stable CF patients (median 21 years, range 6-51 years, 22 female) underwent MRI and CT on the same day. Study protocol included respiratory-triggered PROPELLER MRI and volumetric CT end-inspiratory and -expiratory acquisitions. Two observers scored the images using the CF-MRI and CF-CT systems. Scores were compared with intra-class correlation coefficient (ICC) and Bland-Altman plots. The sensitivity and specificity of MRI versus CT were calculated. MRI sensitivity for detecting severe CF bronchiectasis was 0.33 (CI 0.09-0.57), while specificity was 100 % (CI 0.88-1). ICCs for bronchiectasis and trapped air were as follows: MRI-bronchiectasis (0.79); CT-bronchiectasis (0.85); MRI-trapped air (0.51); CT-trapped air (0.87). Bland-Altman plots showed an MRI tendency to overestimate the severity of bronchiectasis in mild CF disease and underestimate bronchiectasis in severe disease. Motion correction in PROPELLER MRI does not improve assessment of CF lung disease compared to CT. However, the good inter- and intra-observer agreement and the high specificity suggest that MRI might play a role in the short-term follow-up of CF lung disease (i.e. pulmonary exacerbations). (orig.)

  18. Assessment of CF lung disease using motion corrected PROPELLER MRI: a comparison with CT

    International Nuclear Information System (INIS)

    Ciet, Pierluigi; Serra, Goffredo; Catalano, Carlo; Bertolo, Silvia; Morana, Giovanni; Spronk, Sandra; Ros, Mirco; Fraioli, Francesco; Quattrucci, Serena; Assael, M.B.; Pomerri, Fabio; Tiddens, Harm A.W.M.

    2016-01-01

    To date, PROPELLER MRI, a breathing-motion-insensitive technique, has not been assessed for cystic fibrosis (CF) lung disease. We compared this technique to CT for assessing CF lung disease in children and adults. Thirty-eight stable CF patients (median 21 years, range 6-51 years, 22 female) underwent MRI and CT on the same day. Study protocol included respiratory-triggered PROPELLER MRI and volumetric CT end-inspiratory and -expiratory acquisitions. Two observers scored the images using the CF-MRI and CF-CT systems. Scores were compared with intra-class correlation coefficient (ICC) and Bland-Altman plots. The sensitivity and specificity of MRI versus CT were calculated. MRI sensitivity for detecting severe CF bronchiectasis was 0.33 (CI 0.09-0.57), while specificity was 100 % (CI 0.88-1). ICCs for bronchiectasis and trapped air were as follows: MRI-bronchiectasis (0.79); CT-bronchiectasis (0.85); MRI-trapped air (0.51); CT-trapped air (0.87). Bland-Altman plots showed an MRI tendency to overestimate the severity of bronchiectasis in mild CF disease and underestimate bronchiectasis in severe disease. Motion correction in PROPELLER MRI does not improve assessment of CF lung disease compared to CT. However, the good inter- and intra-observer agreement and the high specificity suggest that MRI might play a role in the short-term follow-up of CF lung disease (i.e. pulmonary exacerbations). (orig.)

  19. Cystic fibrosis, common variable immunodeficiency and Aspergers syndrome: an immunological and behavioural challenge.

    LENUS (Irish Health Repository)

    Chotirmall, S H

    2009-08-07

    INTRODUCTION: Cystic fibrosis (CF) is of particular importance in Ireland as the Irish population has both the highest incidence (2.98\\/10,000) and the highest carrier rate (1 in 19) in the world. Primary immunodeficiency has not been previously reported as co-existing with CF. CASE REPORT: We report a unique case of CF associated with a primary immunodeficiency syndrome-common variable immunodeficiency (CVID). DISCUSSION: Our patient has CF, CVID and the additional comorbidity of Aspergers syndrome. The challenges inherent in diagnosing and treating such a case are outlined herein and the successful management of this case is evidenced by the well-preserved lung function of our patient.

  20. Cystic fibrosis, common variable immunodeficiency and Aspergers syndrome: an immunological and behavioural challenge.

    LENUS (Irish Health Repository)

    Chotirmall, S H

    2012-02-01

    INTRODUCTION: Cystic fibrosis (CF) is of particular importance in Ireland as the Irish population has both the highest incidence (2.98\\/10,000) and the highest carrier rate (1 in 19) in the world. Primary immunodeficiency has not been previously reported as co-existing with CF. CASE REPORT: We report a unique case of CF associated with a primary immunodeficiency syndrome--common variable immunodeficiency (CVID). DISCUSSION: Our patient has CF, CVID and the additional comorbidity of Aspergers syndrome. The challenges inherent in diagnosing and treating such a case are outlined herein and the successful management of this case is evidenced by the well-preserved lung function of our patient.

  1. Cystic fibrosis, common variable immunodeficiency and Aspergers syndrome: an immunological and behavioural challenge.

    Science.gov (United States)

    Chotirmall, S H; Low, T B; Hassan, T; Branagan, P; Kernekamp, C; Flynn, M G; Gunaratnam, C; McElvaney, N G

    2011-06-01

    Cystic fibrosis (CF) is of particular importance in Ireland as the Irish population has both the highest incidence (2.98/10,000) and the highest carrier rate (1 in 19) in the world. Primary immunodeficiency has not been previously reported as co-existing with CF. We report a unique case of CF associated with a primary immunodeficiency syndrome--common variable immunodeficiency (CVID). Our patient has CF, CVID and the additional comorbidity of Aspergers syndrome. The challenges inherent in diagnosing and treating such a case are outlined herein and the successful management of this case is evidenced by the well-preserved lung function of our patient.

  2. Imaging the Abdominal Manifestations of Cystic Fibrosis

    Directory of Open Access Journals (Sweden)

    C. D. Gillespie

    2017-01-01

    Full Text Available Cystic fibrosis (CF is a multisystem disease with a range of abdominal manifestations including those involving the liver, pancreas, and kidneys. Recent advances in management of the respiratory complications of the disease has led to a greater life expectancy in patients with CF. Subsequently, there is increasing focus on the impact of abdominal disease on quality of life and survival. Liver cirrhosis is the most important extrapulmonary cause of death in CF, yet significant challenges remain in the diagnosis of CF related liver disease. The capacity to predict those patients at risk of developing cirrhosis remains a significant challenge. We review representative abdominal imaging findings in patients with CF selected from the records of two academic health centres, with a view to increasing familiarity with the abdominal manifestations of the disease. We review their presentation and expected imaging findings, with a focus on the challenges facing diagnosis of the hepatic manifestations of the disease. An increased familiarity with these abdominal manifestations will facilitate timely diagnosis and management, which is paramount to further improving outcomes for patients with cystic fibrosis.

  3. Proposal of a CT scoring system of the paranasal sinuses in diagnosing cystic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Eggesboe, H.B. [Department of Radiology, Aker University Hospital, 0514, Oslo (Norway); Soevik, S. [Department of Physiology, Department Group of Basic Medical Sciences, University of Oslo, 0317, Oslo (Norway); Doelvik, S. [Department of Otorhinolaryngology, Ullevaal University Hospital, 0407, Oslo (Norway); Eiklid, K. [Department of Medical Genetics, Ullevaal University Hospital, 0407, Oslo (Norway); Kolmannskog, F. [, Sentrum Roentgeninstitutt, 0155, Oslo (Norway)

    2003-06-01

    The purpose of this study was to develop a paranasal sinus CT scoring system that could be used as a diagnostic tool to discriminate cystic fibrosis (CF) patients from control patients examined for sinonasal disease. The model should include as few and easily applicable criteria as possible, supported by statistical analyses and clinical judgement. We used data from 116 CF and 136 control patients. The CF patients were grouped according to the number of confirmed CF mutations: genetically verified (CF-2), or based on sweat testing and clinical findings alone (CF-1, CF-0). Nine paranasal sinus CT criteria, including development, pneumatisation variants and inflammatory patterns, were evaluated. The final model included three criteria: (a) frontal and (b) sphenoid sinus development, and (c) absence of three pneumatisation variants. This model discriminated CF-2 from controls with overlap of summed scores in only 8 of 206 patients. When this model was applied in the CF-1 and CF-0 groups, two populations seemed to exist. A larger group with summed scores overlapping that of the CF-2 group and a smaller group with summed scores overlapping that of the control group. We conclude that this CT scoring system may support, as well as exclude, a CF diagnosis in cases of diagnostic uncertainty. (orig.)

  4. Sleep Phase Delay in Cystic Fibrosis: A Potential New Manifestation of Cystic Fibrosis Transmembrane Regulator Dysfunction.

    Science.gov (United States)

    Jensen, Judy L; Jones, Christopher R; Kartsonaki, Christiana; Packer, Kristyn A; Adler, Frederick R; Liou, Theodore G

    2017-08-01

    Cystic fibrosis (CF) transmembrane regulator (CFTR) protein dysfunction causes CF. Improving survival allows detection of increasingly subtle disease manifestations. CFTR dysfunction in the central nervous system (CNS) may disturb circadian rhythm and thus sleep phase. We studied sleep in adults to better understand potential CNS CFTR dysfunction. We recruited participants from April 2012 through April 2015 and administered the Munich Chronotype Questionnaire (MCTQ). We compared free-day sleep measurements between CF and non-CF participants and investigated associations with CF survival predictors. We recruited 23 female and 22 male adults with CF aged 18 to 46 years and 26 female and 22 male volunteers aged 18 to 45 years. Compared with volunteers without CF, patients with CF had delayed sleep onset (0.612 h; P = .015), midsleep (1.11 h; P < .001), and wake (1.15 h; P < .001) times and prolonged sleep latency (7.21 min; P = .05) and duration (0.489 h; P = .05). Every hour delay in sleep onset was associated with shorter sleep duration by 0.29 h in patients with CF and 0.75 h in subjects without CF (P = .007) and longer sleep latency by 7.51 min in patients with CF and 1.6 min in volunteers without CF (P = .035). Among patients with CF, FEV 1 % predicted, prior acute pulmonary exacerbations, and weight were independent of all free-day sleep measurements. CF in adults is associated with marked delays in sleep phase consistent with circadian rhythm phase delays. Independence from disease characteristics predictive of survival suggests that sleep phase delay is a primary manifestation of CFTR dysfunction in the CNS. Copyright © 2017 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

  5. Outcomes of infants with indeterminate diagnosis detected by cystic fibrosis newborn screening.

    Science.gov (United States)

    Ren, Clement L; Fink, Aliza K; Petren, Kristofer; Borowitz, Drucy S; McColley, Susanna A; Sanders, Don B; Rosenfeld, Margaret; Marshall, Bruce C

    2015-06-01

    Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome (CRMS) describes asymptomatic infants with a positive cystic fibrosis (CF) newborn screen (NBS) but inconclusive diagnostic testing for CF. Little is known about the epidemiology and outcomes of CRMS. The goal of this study was to determine the prevalence, clinical features, and short-term outcomes of infants with CRMS. We analyzed data from the US CF Foundation Patient Registry (CFFPR) from 2010 to 2012. We compared demographic, diagnostic, anthropometric, health care utilization, microbiology, and treatment characteristics between infants with CF and infants with CRMS. There were 1983 infants diagnosed via NBS between 2010 and 2012 reported to the CFFPR. By using the CF Foundation guideline definitions, 1540 and 309 infants met the criteria for CF and CRMS, respectively (CF:CRMS ratio = 5.0:1.0). Of note, 40.8% of infants with CRMS were entered into the registry with a clinical diagnosis of CF. Infants with CRMS tended to have normal nutritional indices. However, 11% of infants with CRMS had a positive Pseudomonas aeruginosa respiratory tract culture in the first year of life. CRMS is a common outcome of CF NBS, and some infants with CRMS may develop features concerning for CF disease. A substantial proportion of infants with CRMS were assigned a clinical diagnosis of CF, which may reflect misclassification or clinical features not collected in the CFFPR. Copyright © 2015 by the American Academy of Pediatrics.

  6. 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

  7. The Prognosis of Small Cell Lung Cancer in Patients with Pulmonary Fibrosis.

    Science.gov (United States)

    Matsumoto, Yoko; Ohara, Sayaka; Furukawa, Ryutaro; Usui, Kazuhiro

    2017-10-01

    The purpose of this study was to assess the prognosis of small cell lung cancer (SCLC) based on the underlying pulmonary disease. A total of 204 patients with SCLC were reviewed and categorized into three groups: normal, emphysema and fibrosis. The median overall survival duration (OS) in patients with normal lungs (n=57), with emphysema (n=105) and fibrosis (n=42) was 21.3, 16.4 and 10.8 months (p=0.063). In limited-stage disease (LD), the median OS in patients with fibrosis (7.4 months) was shorter than normal (52.7 months) or emphysema patients (26.4 months) (p=0.034). In extensive-stage disease (ED), the median OS in patients with fibrosis (12.7 months) was not significantly different from normal (11.4 months) or emphysema patients (13.5 months) (p=0.600). Patients with fibrosis had a poorer prognosis than normal or emphysema patients in LD-SCLC, but the coexistence of pulmonary fibrosis did not affect the prognostic outcomes in ED-SCLC. Copyright© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

  8. Liver fibrosis progression in HIV/hepatitis C virus coinfected patients with normal aminotransferases levels

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    Fábio Heleno de Lima Pace

    2012-08-01

    Full Text Available INTRODUCTION: Approximately 30% of hepatitis C virus (HCV monoinfected patients present persistently normal alanine aminotransferase (ALT levels. Most of these patients have a slow progression of liver fibrosis. Studies have demonstrated the rate of liver fibrosis progression in hepatitis C virus-human immunodeficiency virus (HCV-HIV coinfected patients is faster than in patients infected only by HCV. Few studies have evaluated the histological features of chronic hepatitis C in HIV-infected patients with normal ALT levels. METHODS: HCV-HIV coinfected patients (HCV-RNA and anti-HIV positive with known time of HCV infection (intravenous drugs users were selected. Patients with hepatitis B surface antigen (HBsAg positive or hepatitis C treatment before liver biopsy were excluded. Patients were considered to have a normal ALT levels if they had at least 3 normal determinations in the previous 6 months prior to liver biopsy. All patients were submitted to liver biopsy and METAVIR scale was used. RESULTS: Of 50 studied patients 40 (80% were males. All patients were treated with antiretroviral therapy. The ALT levels were normal in 13 (26% patients. HCV-HIV co-infected patients with normal ALT levels had presented means of the liver fibrosis stages (0.77±0.44 versus 1.86±1.38; p<0.001 periportal inflammatory activity (0.62±0.77 versus 2.24±1.35; p<0.001 and liver fibrosis progression rate (0.058±0.043 fibrosis unit/year versus 0.118±0.102 fibrosis unit/year significantly lower as compared to those with elevated ALT. CONCLUSIONS: HCV-HIV coinfected patients with persistently normal ALTs showed slower progression of liver fibrosis. In these patients the development of liver cirrhosis is improbable.

  9. Differences in prevalence and treatment of Pseudomonas aeruginosa in cystic fibrosis centres in Denmark, Norway and Sweden

    DEFF Research Database (Denmark)

    Knudsen, Per Kristian; Olesen, Hanne V; Hoiby, Niels

    2009-01-01

    BACKGROUND: Chronic Pseudomonas aeruginosa (PA) infection causes increased morbidity and mortality in cystic fibrosis (CF). This study aimed to answer the following questions: Does the prevalence of chronic infection with PA differ between the CF centres in Scandinavia? Which differences exist......) (p=0.037). The pulmonary function was similar. CONCLUSIONS: It is possible to maintain a very low prevalence of chronic PA infection in CF patients

  10. Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR

    DEFF Research Database (Denmark)

    Wainwright, Claire E; Elborn, J Stuart; Ramsey, Bonnie W

    2015-01-01

    BACKGROUND: Cystic fibrosis is a life-limiting disease that is caused by defective or deficient cystic fibrosis transmembrane conductance regulator (CFTR) protein activity. Phe508del is the most common CFTR mutation. METHODS: We conducted two phase 3, randomized, double-blind, placebo......-controlled studies that were designed to assess the effects of lumacaftor (VX-809), a CFTR corrector, in combination with ivacaftor (VX-770), a CFTR potentiator, in patients 12 years of age or older who had cystic fibrosis and were homozygous for the Phe508del CFTR mutation. In both studies, patients were randomly......-ivacaftor and placebo groups. The rate of discontinuation due to an adverse event was 4.2% among patients who received lumacaftor-ivacaftor versus 1.6% among those who received placebo. CONCLUSIONS: These data show that lumacaftor in combination with ivacaftor provided a benefit for patients with cystic fibrosis...

  11. Higher Mobility Scores in Patients with Cystic Fibrosis Are Associated with Better Lung Function

    Directory of Open Access Journals (Sweden)

    Aneesha Thobani

    2015-01-01

    Full Text Available Objective. The purpose of this study was to determine whether mobility and physical activity were associated with lung function in adults with cystic fibrosis (CF. Design. This was a prospective cohort observational study in an urban, academic, specialized care center. Participants were ambulatory, nonhospitalized adults with CF. Main Outcome Measures. Mobility was assessed monthly by the Life-Space Assessment (LSA questionnaire and quarterly by pedometer. Lung function was assessed by spirometry. Results. Twenty-seven subjects participated. Subjects recorded mean pedometer steps of 20,213 ± 11,331 over three days and FEV1% predicted of 77.48% ± 22.60% over one year. The LSA score at enrollment was correlated with initial pedometer steps (r=0.42 and P=0.03, and mean LSA score over one year was correlated with mean number of steps (r=0.51 and P=0.007. LSA mobility and pedometer scores were correlated with FEV1% predicted at enrollment and throughout the study. Conclusions. Mobility and physical activity measured by LSA questionnaire and pedometer are positively associated with lung function in adults with CF. This study confirms the importance of mobility and physical activity and supports the utility of a simple office-based questionnaire as a measure of mobility in adults with CF.

  12. Safety and Efficacy of a Novel Microbial Lipase in Patients with Exocrine Pancreatic Insufficiency due to Cystic Fibrosis: A Randomized Controlled Clinical Trial.

    Science.gov (United States)

    Heubi, James E; Schaeffer, David; Ahrens, Richard C; Sollo, Natalie; Strausbaugh, Steven; Graff, Gavin; Jain, Raksha; Witte, Stephan; Forssmann, Kristin

    2016-09-01

    To evaluate the safety and efficacy of a novel microbial lipase (NM-BL) in a liquid formulation for the treatment of exocrine pancreatic insufficiency (EPI) in patients with cystic fibrosis (CF) in a phase IIa proof-of-concept study. We conducted a double-blind, randomized, placebo controlled crossover study in patients with cystic fibrosis and exocrine pancreatic insufficiency. Adolescent and adult patients with CF were randomized to receive NM-BL or placebo for 1 week as replacement for their usual pancreatic enzyme formulation. They were subsequently crossed-over to the alternate study treatment. The coefficient of fat absorption was evaluated as the primary endpoint. Symptoms and adverse events were evaluated as secondary endpoints. A total of 35 patients were randomized into the study and 22 patients completed both treatment periods. During treatment with NM-BL, the coefficient of fat absorption was significantly greater (72.7%) compared with placebo (53.8%) with a difference between groups of 18.8% (P < .001). Subjective assessment of stool fat and stool consistency also improved under treatment with NM-BL. Adverse events were mostly gastrointestinal in nature and were more common in the group receiving NM-BL. Currently available pancreatic enzyme products are limited because of the lack of liquid formulations and being largely porcine based. The novel microbial lipase NM-BL was safe and effective in this short term trial. The trial provided clinical proof-of-concept for this novel microbial lipase as a treatment for EPI in CF. A larger phase 2 dose ranging trial is warranted. ClinicalTrials.gov: NCT01710644. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. The diagnosis of cystic fibrosis.

    Science.gov (United States)

    De Boeck, Kris; Vermeulen, Francois; Dupont, Lieven

    2017-06-01

    Establishing the diagnosis of cystic fibrosis (CF) is straight forward in the majority of patients: they present with a clear clinical picture (most frequently chronic respiratory symptoms plus malabsorption), the sweat chloride value is>60mmol/L and two known disease causing CFTR mutations are identified. In less than 5% of subjects, mainly those with a milder or limited phenotype, the diagnostic process is more complex, because initial diagnostic test results are inconclusive: sweat chloride concentration in the intermediate range, less than 2 CF causing mutations identified or both. These patients should be referred to expert centers where bioassays of CFTR function like nasal potential difference measurement or intestinal current measurement can be done. Still, in some patients, despite symptoms compatible with CF and some indication of CFTR dysfunction (e.g. only intermediate sweat chloride value), diagnostic criteria are not met (e.g. only 1 CFTR mutation identified). For these subjects, the term CFTR related disorder (CFTR-RD) is used. Patients with disseminated bronchiectasis, congenital bilateral absence of the vas deferens and acute or recurrent pancreatitis may fall in this category. CF has a very wide disease spectrum and increasingly the diagnosis is being made during adult life, mainly in subjects with milder phenotypes. In many countries, nationwide CF newborn screening (NBS) has been introduced. In screen positive babies, the diagnosis of CF must be confirmed by a sweat test demonstrating a sweat chloride concentration above 60mmol/L. To achieve the benefit of NBS, every baby in whom the diagnosis of CF is confirmed must receive immediate follow-up and treatment in a CF reference center. CF NBS is not full proof: some diagnoses will be missed and in some babies the diagnosis cannot be confirmed nor ruled out with certainty. Screening algorithms that include gene sequencing will detect a high number of such babies that are screen positive with an