Adult Cystic Fibrosis Center

Hague, United States

Adult Cystic Fibrosis Center

Hague, United States

Time filter

Source Type

Salvatore D.,Cystic Fibrosis Center | Buzzetti R.,Italian Cystic Fibrosis Research Foundation | Baldo E.,Cystic Fibrosis Service | Forneris M.P.,Pediatric Cystic Fibrosis Center | And 8 more authors.
Journal of Cystic Fibrosis | Year: 2011

This is the third article related to a review of the literature based on data from national cystic fibrosis (CF) patient registries up to June 2008 and covering a total of 115 published studies. It focuses on several topics: CF incidence, genotype/phenotype correlation, microbiology, pregnancy/paternity, clinical complications, lung transplantation, and others. Seventy seven papers meeting the inclusion criteria were found to be related to the topics listed above. Another seven studies, already evaluated in previous papers of this series, were recalled for specific topics. Incidence is described by several studies, results being quite different from one country to another and quite inhomogeneous among regions within the same country. Studies on genetics address the genotype/phenotype correlation and look for a predictive value of CFTR mutations in terms of clinical outcome, with controversial results. Papers on microbiology describe the clinical relevance of different pathogens and their role in the progress of CF lung disease. A few articles give information on the features of CF women undergoing a pregnancy and try to identify the ones associated with a better outcome. Studies on clinical complications discuss prevalence and the role of haemoptysis, pneumothorax, CF related diabetes, ABPA and cancer. Papers on lung transplantation focus on models able to improve the selection criteria for transplantation candidates and the factors linked to post transplantation survival. Finally, several studies deal with a number of interesting topics related to CF epidemiology: clinical trial methodology, quality of care comparison among countries and centers, relationship between diagnosis and age/gender, and evaluation of pharmacological therapy. On the whole, CF Registries have already contributed to important advances in the knowledge of the natural history of CF, establishing the foundations for future improvement in CF research and care. © 2010 European Cystic Fibrosis Society.


Salvatore D.,Cystic Fibrosis Center | Buzzetti R.,Italian Cystic Fibrosis Research Foundation | Baldo E.,Cystic Fibrosis Service | Forneris M.P.,Pediatric Cystic Fibrosis Center | And 8 more authors.
Journal of Cystic Fibrosis | Year: 2010

Background: This is the second article related to a review of the literature based on data from national cystic fibrosis (CF) registries up to June 2008 and covering a total of 115 studies. It focuses on two topics: neonatal screening (NS) and nutritional status, with particular reference to growth. Methods: Ten papers meeting the inclusion criteria were found on the topic of NS and its impact on the course of the disease, and were analyzed according to a dedicated grid. The issue of nutrition was addressed by 14 studies, analyzed according to similar criteria. Results: Most of the studies report benefits of early diagnosis by NS, albeit to variable degrees. The benefits were assessed in terms of better nutritional status and growth, but also in terms of lower overall morbidity rate as compared to subjects diagnosed by symptoms. The main biases of these studies, which partly undermine the validity of their results, are also analyzed. A part of our analysis on nutrition/growth is dedicated to the identification of the most suitable parameters to define malnutrition: in children older than two years the body mass index percentile (BMIp) appears to be the most sensitive and significantly associated with respiratory function. Better nutritional status and satisfactory growth appear to be associated with better lung function and lower risk of death. The relationship between nutritional status and socio-economic status is also of interest. Conclusions: CF registry studies support the outcome of cohort observational studies i.e. that pre-symptomatic early diagnosis is beneficial, especially in terms of nutritional status and growth. Studies on nutrition indicate that good nutritional status is associated with better respiratory function and prognosis. Regarding methods, the need emerged to manage potential biases of this kind of non randomized studies, resorting to suitable statistical techniques, such as matching and stratification and, above all, to multivariate methods able to provide estimates adjusted for the main covariates tested. © 2009 European Cystic Fibrosis Society.


Elborn J.S.,Queen's University of Belfast | Elborn J.S.,Adult Cystic Fibrosis Center | Henig N.R.,Gilead Sciences Inc.
Expert Opinion on Pharmacotherapy | Year: 2010

Importance of the field: Chronic endobronchial infection in cystic fibrosis (CF) leads to progressive lung function loss and respiratory failure. Most adult CF patients are infected with Pseudomonas aeruginosa, an important predictor of mortality. Suppressing chronic P. aeruginosa infection with inhaled antibiotics is standard of care for CF patients. Areas covered in this review: This review describes the development (2003 2010) of aztreonam lysine 75 mg powder and solvent for nebulizer solution (AZLI; Cayston®), an aerosolized formulation of the monobactam antibiotic aztreonam. What the reader will gain: AZLI was studied in patients with CF and chronic P. aeruginosa airway infection. In placebo-controlled trials, AZLI improved respiratory symptoms, increased forced expiratory volume in 1 sec (FEV1), decreased sputum P. aeruginosa density, and was well tolerated. An open-label follow-on trial of nine 'on/off' courses showed that AZLI was safe and the effect durable with repeated administration. AZLI was recently approved for use in CF patients in Australia and the USA, and conditionally approved in Canada and the European Union. AZLI is given three times daily for 28 days (2 3 min/dose), followed by 28 days off-drug. AZLI is used only with the Altera Nebulizer System™, which provides appropriate particle size and small airway deposition, and has excellent portability. Take home message: AZLI is a new therapy that is safe and effectively improves respiratory symptoms and FEV1 in patients with CF. © 2010 Informa UK Ltd.


Salvatore D.,Cystic Fibrosis Center | Buzzetti R.,Italian Cystic Fibrosis Research Foundation | Baldo E.,Cystic Fibrosis Service | Furnari M.L.,Cystic Fibrosis Center | And 7 more authors.
Journal of Cystic Fibrosis | Year: 2012

A total of 53 national cystic fibrosis (CF) patient registry studies published between July 2008 and November 2011 have been reviewed, focusing on the following topics: CF epidemiology, nutrition, microbiology, clinical complications, factors influencing diagnosis and lung disease, effects of socioeconomic status, therapeutic strategy evaluation, clinical trial methodology.The studies describe the clinical characteristics of CF patients, the incidence and prevalence of disease and role of gender gap, as well as the influence of socioeconomic status and environmental factors on clinical outcomes, covering a variety of countries and ethnic groups. Original observations describe patients as they get older, with special reference to the adult presentation of CF and long-term survival. Methodological aspects are discussed, covering the design of clinical trials, survival analysis, auxometry, measures of quality of life, follow up of lung disease, predictability of disease progression and life expectancy. Microbiology studies have investigated the role of selected pathogens, such as Burkholderia species and MRSA. Pulmonary exacerbations are discussed both as a factor influencing morbidity and an endpoint in clinical trials. Finally, some studies give insights on complications, such as CF-related diabetes and hemoptysis, and emerging problems, such as chronic nephropathy. © 2012 European Cystic Fibrosis Society.


Scheenstra R.J.,Netherlands Cancer Institute | Heijerman H.G.M.,Adult Cystic Fibrosis Center | Zuur C.L.,VU University Amsterdam | Touw D.J.,VU University Amsterdam | Rijntjes E.,Haga Teaching Hospital
Acta Oto-Laryngologica | Year: 2010

Conclusion: Our results indicate that repeated treatment courses with tobramycin 10 mg/kg (twice daily for 3 weeks) may be safely applied in cystic fibrosis (CF) patients with respect to ototoxicity. The risk of hearing loss in this patient group is less than expected, which could be explained by either unfavourable baseline audiometry or the use of unidentified protective medication, or both. However, due to large inter-individual variations, audiometry screening remains important with respect to the detection of individual outliers. Objectives: Tobramycin is frequently prescribed for CF patients. In this study, hearing loss due to cumulative tobramycin exposure in adult CF patients was investigated. Patients and methods: We retrospectively investigated 19 patients with both baseline and follow-up audiometry before and after repeated courses of intravenous tobramycin (10 mg/kg/day in twice daily administrations for 3 weeks). Pure tone audiometry was performed at 0.250-16 kHz. Results: After repeated courses of tobramycin (median 3, range 1-8), the mean increase per frequency was 2.1 dB (median 0.5 dB, SD 12.6) with large (interindividual) variations (range -23.5 to 34.5 dB). The pure tone averages (PTA) at 1-2-4 kHz and 8-10-12 kHzincreased 1.4dBHL and 2.3 dBHL, respectively, but were neither statistically significant, nor correlated with the cumulative tobramycin exposure.


Lomas P.,Adult Cystic Fibrosis Center
Therapeutic Advances in Respiratory Disease | Year: 2014

Nonadherence to inhaled therapies is a major problem in the treatment of cystic fibrosis that can influence lung function and health outcomes. Potential contributors to nonadherence have been identified, including demographic and psychosocial factors, time and convenience of inhaled therapy, and treatment beliefs. Additional research is clearly needed to clarify the contributors and to determine which interventions and technological advances will enhance adherence to inhaled therapies in patients with cystic fibrosis. Nurses and allied health professionals are ideally positioned to assist patients and families with adherence to inhaled therapies through monitoring, communication, and education about the available therapies and their proper use. This review briefly summarizes the available evidence about contributors to nonadherence, potential interventions, novel delivery devices for inhaled therapies, and opportunities for additional research. © The Author(s), 2014.


Castellani C.,Verona Cystic Fibrosis Center | Assael B.M.,Adult Cystic Fibrosis Center
Cellular and Molecular Life Sciences | Year: 2016

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. © 2016 Springer International Publishing


Cohen R.I.,Adult Cystic Fibrosis Center | Ginsberg N.,Adult Cystic Fibrosis Center | Tsang D.,Adult Cystic Fibrosis Center | Wann L.C.,Adult Cystic Fibrosis Center | And 2 more authors.
Respiration | Year: 2013

Background: The mechanisms of fat mass (FM) loss in cystic fibrosis (CF) are poorly understood but could represent complex pathways involving dysregulation of appetite-modulating peptides and an amplified inflammatory response. Nesfatin-1 is a newly described peptide that decreases food intake and FM but has not been studied in CF. Objectives: We hypothesized that changes in the appetite-suppressing hormone nesfatin-1 would be physiological, and levels would be lower in advanced CF patients with lower FM compared to those with milder disease and healthy controls. We determined the levels of the cytokines TNF-α, IL-1β, and IL-6 as they have been associated with weight loss in disease states. Methods: Fifty-four adult CF subjects, i.e. 17 with severe, 22 with moderate, and 15 with mild disease, as well as 18 controls were recruited. PFT and body composition analysis (via bioelectrical impedance) were performed. Nesfatin-1 and cytokine levels were determined by ELISA. Results: Contrary to our proposed hypothesis, nesfatin-1 levels were highest in CF patients with severe disease and the lowest FM. A significant negative correlation between nesfatin-1 levels and FM was found only in the severe CF group (r =-0.7, p = 0.003). In forward stepwise regression analysis, only FM was significantly associated with nesfatin-1 levels. Levels of TNF-α and IL-6 were elevated in the severe CF group, but there was no association with either FM or nesfatin-1. Conclusion: In advanced CF and low FM, nesfatin-1 plasma levels are significantly increased and inversely correlated with the FM. Our results further suggest that nesfatin-1 exerts its effects independently of TNF-α or IL-6. Copyright © 2013 S. Karger AG, Basel.


Hurt K.,Imperial College London | Bilton D.,Imperial College London | Bilton D.,Adult Cystic Fibrosis Center
Medicine | Year: 2012

Cystic fibrosis (CF) is the most common lethal genetic disease in the Caucasian population. Survival has improved dramatically with expected median survival in the UK now 41.4 years. In CF, a vicious cycle of mucus stasis, chronic inflammation and recurrent infection leads to respiratory failure and death in the majority of patients. CF is a multisystem disease with pancreatic exocrine insufficiency occurring in the majority of patients. Treatment involves airway clearance techniques, inhaled muco-active therapies and the prevention and control of respiratory infection. Pseudomonas aeruginosa is the most common respiratory pathogen. In 2011, a mutation-specific therapy (VX-770) demonstrated efficacy for the first time. A number of other similar compounds are in the pipeline. With these treatments we are potentially entering a new era of CF care in which we may expect even longer survival. © 2012 Elsevier Ltd. All rights reserved.


PubMed | Adult Cystic Fibrosis Center and Verona Cystic Fibrosis Center
Type: Review | Journal: Cellular and molecular life sciences : CMLS | Year: 2016

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 50years 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.

Loading Adult Cystic Fibrosis Center collaborators
Loading Adult Cystic Fibrosis Center collaborators