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  • 1.
    Castellani, Carlo
    et al.
    Cystic Fibrosis Centre, Opsedale Maggiore, Verona, Italy.
    Cuppens, H.
    Macek, M.
    Cassiman, J. J.
    Kerem, E.
    Durie, P.
    Tullis, E.
    Assael, B. M.
    Bombieri, C.
    Brown, A.
    Casals, T.
    Claustres, M.
    Cutting, G. R.
    Dequeker, E.
    Dodge, J.
    Doull, I.
    Farrell, P.
    Ferec, C.
    Girodon, E.
    Johannesson, Marie
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Kerem, B.
    Knowles, M.
    Munck, A.
    Pignatti, P. F.
    Radojkovic, D.
    Rizzotti, P.
    Schwarz, M.
    Stuhrmann, M.
    Tzetis, M.
    Zielenski, J.
    Elborn, J. S.
    Adult CF Centre, Queen´s University, Belfast, UK.
    Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice2008In: Journal of Cystic Fibrosis, ISSN 1569-1993, E-ISSN 1873-5010, Vol. 7, no 3, p. 179-96Article in journal (Refereed)
    Abstract [en]

    It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotyping technology, the choice of mutations to be tested, and the clinical context in which the test is administered can all influence how genetic information is interpreted. This paper describes the conclusions of a consensus conference to address the use and interpretation of CF mutation analysis in clinical settings. Although the diagnosis of CF is usually straightforward, care needs to be exercised in the use and interpretation of genetic tests: genotype information is not the final arbiter of a clinical diagnosis of CF or CF transmembrane conductance regulator (CFTR) protein related disorders. The diagnosis of these conditions is primarily based on the clinical presentation, and is supported by evaluation of CFTR function (sweat testing, nasal potential difference) and genetic analysis. None of these features are sufficient on their own to make a diagnosis of CF or CFTR-related disorders. Broad genotype/phenotype associations are useful in epidemiological studies, but CFTR genotype does not accurately predict individual outcome. The use of CFTR genotype for prediction of prognosis in people with CF at the time of their diagnosis is not recommended. The importance of communication between clinicians and medical genetic laboratories is emphasized. The results of testing and their implications should be reported in a manner understandable to the clinicians caring for CF patients.

  • 2. Döring, Gerd
    et al.
    Elborn, J. Stuart
    Johannesson, Marie
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    de Jonge, Hugo
    Griese, Matthias
    Smyth, Alan
    Heijerman, Harry
    Clinical trials in cystic fibrosis2007In: Journal of Cystic Fibrosis, ISSN 1569-1993, E-ISSN 1873-5010, Vol. 6, no 2, p. 85-99Article in journal (Refereed)
    Abstract [en]

    In patients with cystic fibrosis (CF), clinical trials are of paramount importance. Here, the current status of drug development in CF isdiscussed and future directions highlighted. Methods for pre-clinical testing of drugs with potential activity in CF patients including relevantanimal models are described. Study design options for phase II and phase III studies involving CF patients are provided, including requiredpatient numbers, safety issues and surrogate end point parameters for drugs, tested for different disease manifestations. Finally, regulatoryissues for licensing new therapies for CF patients are discussed, including new directives of the European Union and the structure of aEuropean clinical trial network for clinical studies involving CF patients is proposed.

  • 3.
    Edenborough, F. P.
    et al.
    Adult CF Centre, Northern, General Hospital, Herries Rodad, Sheffield, S5 7AU, UK.
    Borgo, G.
    Knoop, C.
    Lannefors, L.
    Mackenzie, W. E.
    Madge, S.
    Morton, A. M.
    Oxley, H. C.
    Touw, D. J.
    Benham, M.
    Johannesson, Marie
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Guidelines for the management of pregnancy in women with cystic fibrosis2008In: Journal of Cystic Fibrosis, ISSN 1569-1993, E-ISSN 1873-5010, Vol. 7 Suppl 1, p. S2-32Article in journal (Refereed)
    Abstract [en]

    Women with cystic fibrosis (CF) now regularly survive into their reproductive years in good health and wish to have a baby. Many pregnancies have been reported in the literature and it is clear that whilst the outcome for the baby is generally good and some mothers do very well, others find either their CF complicates the pregnancy or is adversely affected by the pregnancy. For some, pregnancy may only become possible after transplantation. Optimal treatment of all aspects of CF needs to be maintained from the preconceptual period until after the baby is born. Clinicians must be prepared to modify their treatment to accommodate the changing physiology during pregnancy and to be aware of changing prescribing before conception, during pregnancy, after birth and during breast feeding. This supplement offers consensus guidelines based on review of the literature and experience of paediatricians, adult and transplant physicians, and nurses, physiotherapists, dietitians, pharmacists and psychologists experienced in CF and anaesthetist and obstetricians with experience of CF pregnancy. It is hoped they will provide practical guidelines helpful to the multidisciplinary CF teams caring for pregnant women with CF.

  • 4. Gilljam, Marita
    et al.
    Schersten, Henrik
    Silverborn, Martin
    Jonsson, Bodil
    Hollsing, Annika
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Lung transplantation in patients with cystic fibrosis and Mycobacterium abscessus infection2010In: Journal of Cystic Fibrosis, ISSN 1569-1993, E-ISSN 1873-5010, Vol. 9, no 4, p. 272-276Article in journal (Refereed)
    Abstract [en]

    Mycobacterium abscessus lung disease is difficult to treat and has been considered a strong relative contraindication to lung transplantation. We performed double lung transplantation in three cystic fibrosis patients with ongoing, and a fourth with recent treatment for Mycobacterium abscessus lung infection. Despite prolonged antibiotic courses and adjustment of immunosuppressive therapy the first three patients developed skin infection and abscesses. At follow-up after 1, 3, 5 and 7 years respectively no patient had evidence of M abscessus infection and all had stable lung function. Lung transplantation in patients with M abscessus lung infection is feasible but may involve severe complications.

  • 5.
    Knudsen, Per Kristian
    et al.
    National Center for Cystic Fibrosis, Ullevaal University Hospital, Oslo, Norway.
    Olesen, Hanne V.
    Høiby, Niels
    Johannesson, Marie
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Karpati, Ferenc
    Laerum, Birger N.
    Meyer, Peter
    Pressler, Tacjana
    Lindblad, Anders
    Differences in prevalence and treatment of Pseudomonas aeruginosa in cystic fibrosis centres in Denmark, Norway and Sweden2009In: Journal of Cystic Fibrosis, ISSN 1569-1993, E-ISSN 1873-5010, Vol. 8, no 2, p. 135-142Article in journal (Refereed)
    Abstract [en]

    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 concerning segregation and treatment of PA? METHODS: 989 patients (86%) from all eight CF-centres in Scandinavia were included. Demographic and clinical data, including PA colonisation status based on cultures and serology, were recorded at inclusion. The patients were followed prospectively for 1 year, recording number of days with anti-PA antibiotic treatment. RESULTS: In all pancreatic insufficient (PI) patients (n=890) the prevalence of chronic PA infection at each centre ranged from 25.8% to 48.9%, but were not significantly different. In PI patients <19 years the prevalence was 14.5% in Copenhagen compared to 30.9% in the Swedish centres pooled (p=0.001). In intermittently colonised PI patients <19 years the median number of days per year on anti-PA antibiotics was almost 6 times higher in Copenhagen (mean 86 (110), median 61 days) compared to the Swedish centres pooled (mean 27 (52), median 11 days) (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 <19 years. We speculate that this was most likely due to a very intensive treatment of intermittently colonised patients with inhaled anti-PA antibiotics over prolonged periods of time in some centres. Since lung function was similar in centres with less intensive use of inhaled antibiotics, studies comparing different treatment modalities and other parts of CF care are needed to define the best clinical practice, including how to use antibiotics in the most rational way.

  • 6. Lannefors, L
    et al.
    Dennersten, U
    Orffelt, M
    Johansson, Henrik
    Patients with cystic fibrosis can preserve peak working capacity, even if lung function is substantially impaired2010In: Journal of Cystic Fibrosis, ISSN 1569-1993, E-ISSN 1873-5010, p. s67-Article in journal (Refereed)
  • 7. Qvist, Tavs
    et al.
    Gilljam, Marita
    Jonsson, Bodil
    Taylor-Robinson, David
    Jensen-Fangel, Soren
    Wang, Mikala
    Svahn, Anita
    Kotz, Karsten
    Hansson, Lennart
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, UCR-Uppsala Clinical Research Center.
    Hollsing, Annika
    Hansen, Christine R.
    Finstad, Pal L.
    Pressler, Tania
    Hoiby, Niels
    Katzenstein, Terese L.
    Epidemiology of nontuberculous mycobacteria among patients with cystic fibrosis in Scandinavia2015In: Journal of Cystic Fibrosis, ISSN 1569-1993, E-ISSN 1873-5010, Vol. 14, no 1, p. 46-52Article in journal (Refereed)
    Abstract [en]

    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 2000 to the end of 2012 and used national CF databases to describe microbiological and clinical characteristics. Results: During the 13-year period 157 (11%) CF patients were culture positive for NTM at least once. Mycobacterium abscessus complex (MABSC) (45%) and Mycobacterium avium complex (MAC) (32%) were the predominant species with geographical differences in distribution. Younger patients were more prone to MABSC (p < 0.01). Despite treatment, less than one-third of MABSC patients with repeated positive cultures cleared their infection and a quarter had a lung transplant or died. Conclusion: NTM are significant CF pathogens and are becoming. more prevalent in Scandinavia. MABSC and MAC appear to target distinct patient groups. Having multiple positive cultures despite treatment conveys a poor outcome. (C) 2014 The Authors. Published by Elsevier B.V. on behalf of European Cystic Fibrosis Society.

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