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Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society

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https://www.readbyqxmd.com/read/30527892/the-increasing-challenge-of-genetic-counseling-for-cystic-fibrosis
#1
REVIEW
Kimberly E Foil, Amy Powers, Karen S Raraigh, Kimberly Wallis, Kevin W Southern, Danieli Salinas
Genetic counseling for cystic fibrosis (CF) is challenged by intricate molecular mechanisms, complex phenotypes, and psychosocial needs. CFTR variant interpretation has become critical; this manuscript examines variant nomenclature and classes, as well as opportunities and challenges posed by genetic technologies and genotype-directed therapies. With post-graduate training in medical genetics and counseling, genetic counselors educate patients and families, facilitate testing and interpretation, and help integrate genetic information into diagnosis and treatment...
December 7, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30527891/depletion-of-baff-cytokine-exacerbates-infection-in-pseudomonas-aeruginosa-infected-mice
#2
Dušan Garić, Shao Tao, Eisha Ahmed, Mina Youssef, Cynthia Kanagaratham, Juhi Shah, Bruce Mazer, Danuta Radzioch
BACKGROUND: Cystic fibrosis (CF) is a genetic disease characterized by chronic inflammation of the lungs that is ineffective at clearing pathogens. B-cell activating factor (BAFF), a cytokine involved in the development of B-cells, is known to be elevated in CF patients with subclinical infections. We postulate that the elevated BAFF levels in CF patients might be triggered by Pseudomonas aeruginosa infection and it might play a protective role in the regulation of lung responses to infection...
December 7, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30514613/prevalence-and-diversity-of-filamentous-fungi-in-the-airways-of-cystic-fibrosis-patients-a-dutch-multicentre-study
#3
Tobias G P Engel, Lydie Slabbers, Carmen de Jong, Willem J G Melchers, Ferry Hagen, Paul E Verweij, Peter Merkus, Jacques F Meis
BACKGROUND: Progressive lung injury in Cystic Fibrosis (CF) patients can lead to chronic colonization with bacteria and fungi. Fungal colonization is obtained from the environment which necessitates locally performed epidemiology studies. We prospectively analyzed respiratory samples of CF patients during a 3-year period, using a uniform fungal culture protocol, focusing on filamentous fungi and azole resistance in Aspergillus fumigatus. METHODS: Over a 3-year period, all respiratory specimens collected from CF patients in 5 Dutch CF centers, were analyzed...
December 1, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30509601/controlled-attenuation-parameter-a-measure-of-hepatic-steatosis-in-patients-with-cystic-fibrosis
#4
Razan M Bader, Maureen M Jonas, Paul D Mitchell, Shanna Wiggins, Christine K Lee
BACKGROUND: Hepatic steatosis is a common manifestation of CF-related liver disease(CFLD). Controlled attenuation parameter(CAP) measurement during transient elastography(TE) semiquantifies liver steatosis. We examined the relationship between CAP and CFLD severity, clinical factors and liver stiffness measurements(LSM). METHODS: This is a cross-sectional study of CF patients seen for outpatient care between January 2013-March 2014. CFLD severity was categorized as no CFLD, CFLD without portal hypertension(PHTN) and CFLD with PHTN, based on published criteria...
November 30, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30503330/antibody-response-against-mycobacterium-avium-complex-in-cystic-fibrosis-patients-measured-by-a-novel-igg-elisa-test
#5
C Ravnholt, T Qvist, M Kolpen, T Pressler, M Skov, N Høiby
BACKGROUND: Early signs of Mycobacterium avium complex pulmonary disease can be missed in patients with cystic fibrosis due to subclinical infection or delays in mycobacterial culture. The aim of this study was to determine the diagnostic accuracy of a novel enzyme linked immunosorbent assay for immunoglobulin G against Mycobacterium avium complex, which could help stratify patients according to risk. METHODS: A retrospective cross sectional analysis of serum samples from the Copenhagen Cystic Fibrosis Center was performed...
November 29, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30503033/colocolonic-intussusception-in-an-adult-cystic-fibrosis-patient
#6
A Timothy Adewale, Steven M Rowe, George M Solomon
PURPOSE: To raise awareness of colocolonic intussusception as a gastrointestinal complication of CF mimicking distal intestinal obstruction syndrome (DIOS) and discuss risk of recurrence. CASE SUMMARY: A 33-year-old Caucasian male with cystic fibrosis presented with an acute abdomen diagnosed via imaging as colocolonic intussusception. He was managed with fluid replacement therapy and polyethylene glycol. He was re-admitted due to recurrence likely secondary to recurrent constipation and development of a fecalith...
November 28, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30503032/non-invasive-ventilation-and-clinical-outcomes-in-cystic-fibrosis-findings-from-the-uk-cf-registry
#7
Olga Archangelidi, Siobhán B Carr, Nicholas J Simmonds, Diana Bilton, Winston Banya, Paul Cullinan
BACKGROUND: Non-invasive ventilation (NIV) for respiratory failure and airway clearance is an established intervention in cystic fibrosis (CF), but its therapeutic benefit on lung function and survival remains under-investigated. METHODS: Using data from the UK CF Registry between 2007 and 2015, we explored the patterns of NIV use, and assessed changes in mean percent predicted FEV1 (ppFEV1 ) prior to and after NIV use, and the survival of patients on NIV. RESULTS: Among 11,079 patients, 1107 had at least one record of NIV treatment...
November 28, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30503031/beyond-the-expected-identifying-broad-research-priorities-of-researchers-and-the-cystic-fibrosis-community
#8
I L Hollin, S H Donaldson, C Roman, E Aliaj, D Riva, M Boyle, D Borowitz
The Cystic Fibrosis Foundation (CFF) supports research programs aimed at improving care and building a successful drug development pipeline. To ensure its research agenda meets the needs of the community it serves, the CFF sought community input into clinical research prioritization for topics not well-known as already being addressed by CFF-funded research. In 2018, clinical researchers, adults with CF, and family members were surveyed about a broad range of research topics that are perceived to receive less attention...
November 28, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30487080/the-lung-and-gut-microbiome-what-has-to-be-taken-into-consideration-for-cystic-fibrosis
#9
REVIEW
Geneviève Héry-Arnaud, Sébastien Boutin, Leah Cuthbertson, Stuart J Elborn, Michael M Tunney
The 15th European Cystic Fibrosis Society (ECFS) Basic Science pre-conference Symposium focused on the topic of the microbiome, asking the question "The lung and gut microbiome: what has to be considered for cystic fibrosis (CF)?" This review gives an overview of the main points raised during the symposium, which dealt with the technical considerations, pathophysiology and clinical implications of the microbiome in CF.
November 25, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30477895/urinary-metabolomics-reveals-unique-metabolic-signatures-in-infants-with-cystic-fibrosis
#10
B T Kopp, E Joseloff, D Goetz, B Ingram, S L Heltshe, D H Leung, B R Ramsey, K McCoy, D Borowitz
BACKGROUND: Biologic pathways and metabolic mechanisms underpinning early systemic disease in cystic fibrosis (CF) are poorly understood. The Baby Observational and Nutrition Study (BONUS) was a prospective multi-center study of infants with CF with a primary aim to examine the current state of nutrition in the first year of life. Its secondary aim was to prospectively explore concurrent nutritional, metabolic, respiratory, infectious, and inflammatory characteristics associated with early CF anthropometric measurements...
November 23, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30473190/dental-and-periodontal-manifestations-in-patients-with-cystic-fibrosis-a-systematic-review
#11
Tamara Pawlaczyk-Kamieńska, Maria Borysewicz-Lewicka, Renata Śniatała, Halina Batura-Gabryel, Szczepan Cofta
BACKGROUND: The oral cavity is an important reservoir of microorganisms and can be a potential source of infection of the respiratory tract in CF patients. The literature on the oral health does not explicitly determine dental problems in these patients. The aim of the study was to systematically review the studies relating to oral status in CF patients. METHODS: A systematic review of papers published from 1997 to 2018 regarding oral status in CF children and adults, carried out in accordance with the Cochrane Collaboration guidelines...
November 22, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30473189/cystic-fibrosis-is-associated-with-an-increased-risk-of-barrett-s-esophagus
#12
Rita M Knotts, Quinn S Solfisburg, Claire Keating, Emily DiMango, Charles J Lightdale, Julian A Abrams
BACKGROUND: Cystic fibrosis (CF) patients have increased risks of gastrointestinal cancers, including esophageal adenocarcinoma. Gastroesophageal reflux disease (GERD) is highly prevalent in CF and manifests at early ages. CF patients may be at increased risk for long-term sequelae of chronic GERD, including Barrett's esophagus (BE). We aimed to assess whether patients with CF have an increased risk of BE or related neoplasia. METHODS: A matched cohort study was performed of adults with and without CF who had undergone upper endoscopy...
November 22, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30467074/antisense-oligonucleotide-eluforsen-improves-cftr-function-in-f508del-cystic-fibrosis
#13
Isabelle Sermet-Gaudelus, John P Clancy, David P Nichols, Jerry A Nick, Kris De Boeck, George M Solomon, Marcus A Mall, James Bolognese, Florilene Bouisset, Wilhelmina den Hollander, Nicolas Paquette-Lamontagne, Nigel Tomkinson, Noreen Henig, J Stuart Elborn, Steven M Rowe
BACKGROUND: Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. In this study we assessed the effect of antisense oligonucleotide eluforsen on CFTR biological activity measured by Nasal Potential Difference (NPD) in patients with the most common mutation, F508del-CFTR. METHODS: This multi-centre, exploratory, open-label study recruited adults with CF homozygous or compound heterozygous for the F508del-CFTR mutation...
November 19, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30442491/pseudomonas-aeruginosa-colonization-causes-pd-l1-overexpression-on-monocytes-impairing-the-adaptive-immune-response-in-patients-with-cystic-fibrosis
#14
José Avendaño-Ortiz, Emilio Llanos-González, Víctor Toledano, Rosa Del Campo, Carolina Cubillos-Zapata, Roberto Lozano-Rodríguez, Ahmad Ismail, Concepción Prados, Paloma Gómez-Campelo, Luis A Aguirre, Francisco García-Río, Eduardo López-Collazo
BACKGROUND: Cystic fibrosis (CF) is an endotoxin tolerance (ET)-related disease. Given that increased PD-L1 has been reported in ET, its expression and physiological effects on cystic fibrosis monocytes should be studied. METHODS: We analyzed the phenotype and ex vivo response of immune system cells in 32 patients with CF, 19 of them colonized by Pseudomonas aeruginosa. An in vitro model was developed of Pseudomonas aeruginosa colonization using purified lipopolysaccharides (LPS) from one of the most prevalent strains in patients with CF (a CF-adapted Pseudomonas aeruginosa ST395 clone)...
November 12, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30420236/comparison-of-lung-clearance-index-determined-by-washout-of-n-2-and-sf-6-in-infants-and-preschool-children-with-cystic-fibrosis
#15
Mirjam Stahl, Cornelia Joachim, Mark O Wielpütz, Marcus A Mall
BACKGROUND: Multiple-breath washout (MBW) has been shown to detect early impairment of lung function in children with cystic fibrosis (CF). Nitrogen (N2 ) or sulfur hexafluoride (SF6 ) can be used as tracer gas for MBW. Recent data indicated higher lung clearance index (LCI) values measured with N2 -MBW than concurrent SF6 -MBW in older children and adults, however, a comparison in infants and younger children, as well as to other outcome measures of CF lung disease is pending. METHODS: N2 - and SF6 -MBW were performed consecutively in 31 sedated infants and preschool children with CF (mean age, 2...
November 9, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30415947/glycosaminoglycans-are-differentially-involved-in-bacterial-binding-to-healthy-and-cystic-fibrosis-lung-cells
#16
Carla Martin, Víctor Lozano-Iturbe, Rosa M Girón, Emma Vazquez-Espinosa, David Rodriguez, Jesús Merayo-Lloves, Fernando Vazquez, Luis M Quirós, Beatriz García
BACKGROUND: Glycosaminoglycans (GAGs) are essential in many infections, including recurrent bacterial respiratory infections, the main cause of mortality in cystic fibrosis (CF) patients. METHODS: Using a cellular model of healthy and CF lung epithelium, a comparative transcriptomic study of GAG encoding genes was performed using qRT-PCR, and their differential involvement in the adhesion of bacterial pathogens analyzed by enzymatic degradation and binding competition experiments...
November 8, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30396836/validation-of-the-french-3-year-prognostic-score-using-the-canadian-cystic-fibrosis-registry
#17
Adèle Coriati, Jenna Sykes, Lionelle Nkam, Mounia N Hocine, Pierre-Régis Burgel, Anne L Stephenson
Studies of large CF populations using registry data are important to identify people at high risk for death. Nkam et al. published a prognostic score developed on French CF registry data to predict death or lung transplantation (LT) over a 3-year period in the adult CF population. The goal of our study was to validate the proposed tool using the Canadian CF registry. Using data between 2011 and 2014, a total of 2043 adult CF patients were included. We found that the French prognostic score was a good predictor of death or LT in the Canadian CF population (OR for each unit increase: 3...
November 2, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30389600/higher-interleukin-7-serum-concentrations-in-patients-with-cystic-fibrosis-correlate-with-impaired-lung-function
#18
Julia Seyfarth, Sutharsan Sivagurunathan, Sarah Ricken, Gerhard Weinreich, Laura Olbrich, Christian Taube, Ertan Mayatepek, Dirk Schramm, Marc Jacobsen
BACKGROUND: Patients with cystic fibrosis (CF) are highly susceptible to infection and colonization of pulmonary epithelia. Repeated and chronic infections may affect disease course and efficacy of host immune protection. Higher Interleukin (IL)-7 serum levels, indicating impaired T-cell response to IL-7, have been described for chronic viral and mycobacterial infections. METHODS: Time course measures of IL-7 serum concentrations in patients with CF (n = 164; n = 78 for the second time point) and healthy controls (n = 60) were done...
October 31, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30389601/functional-characterization-and-phenotypic-spectrum-of-three-recurrent-disease-causing-deep-intronic-variants-of-the-cftr-gene
#19
A Bergougnoux, K Délétang, A Pommier, J Varilh, F Houriez, J P Altieri, M Koenig, C Férec, M Claustres, G Lalau, T Bienvenu, M P Audrézet, A Pagin, E Girodon, C Raynal, M Taulan-Cadars
BACKGROUND: The CFTR genotype remains incomplete in 1% of Cystic Fibrosis (CF) cases, because only one or no disease-causing variants is detected after extended analysis. This fraction is probably higher in CFTR-Related Disorders (CFTR-RD). Deep-intronic CFTR variants are putative candidates to fill this gap. However, the recurrence, phenotypic spectrum and full molecular characterization of newly reported variants are unknown. METHODS: Minigenes and analysis of CFTR transcripts in nasal epithelial cells were used to determine the impact on CFTR splicing of intronic variants that we previously identified by next generation sequencing of the whole CFTR locus...
October 30, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/30482682/pre-transplant-factors-associated-with-mortality-after-lung-transplantation-in-cystic-fibrosis-a-systematic-review-and-meta-analysis
#20
Angela Koutsokera, Rhea A Varughese, Jenna Sykes, Ani Orchanian-Cheff, Prakesh S Shah, Cecilia Chaparro, Elizabeth Tullis, Lianne G Singer, Anne L Stephenson
BACKGROUND: Mortality risk stratification is essential in lung transplantation (LTx) to allow listing, prioritization and mitigating strategies. In cystic fibrosis (CF) patients, predictors of post-LTx mortality are not established. METHODS: For this systematic review and meta-analysis, seven databases were searched until January 3, 2018 to identify predictors of post-LTx mortality in CF. We excluded studies of multi-organ transplantation, re-transplantation and graft survival...
October 25, 2018: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
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