journal
Journals Journal of Cystic Fibrosis : O...

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

https://read.qxmd.com/read/38388235/in-vitro-modulator-responsiveness-of-655-cftr-variants-found-in-people-with-cystic-fibrosis
#21
JOURNAL ARTICLE
Hermann Bihler, Andrey Sivachenko, Linda Millen, Priyanka Bhatt, Amita Thakerar Patel, Justin Chin, Violaine Bailey, Isaac Musisi, André LaPan, Normand E Allaire, Joshua Conte, Noah R Simon, Amalia S Magaret, Karen S Raraigh, Garry R Cutting, William R Skach, Robert J Bridges, Philip J Thomas, Martin Mense
BACKGROUND: In 2017, the US Food and Drug Administration initiated expansion of drug labels for the treatment of cystic fibrosis (CF) to include CF transmembrane conductance regulator (CFTR) gene variants based on in vitro functional studies. This study aims to identify CFTR variants that result in increased chloride (Cl- ) transport function by the CFTR protein after treatment with the CFTR modulator combination elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA). These data may benefit people with CF (pwCF) who are not currently eligible for modulator therapies...
February 21, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38388234/ecfs-standards-of-care-on-cftr-related-disorders-towards-a-comprehensive-program-for-affected-individuals
#22
JOURNAL ARTICLE
E De Wachter, K De Boeck, I Sermet-Gaudelus, N J Simmonds, A Munck, L Naehrlich, J Barben, C Boyd, S J Veen, S B Carr, I Fajac, P M Farrell, E Girodon, T Gonska, W W Grody, M Jain, A Jung, E Kerem, K S Raraigh, S van Koningsbruggen-Rietschel, M D Waller, K W Southern, C Castellani
After three publications defining an updated guidance on the diagnostic criteria for people with cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders (pwCFTR-RDs), establishing its relationship to CFTR-dysfunction and describing the individual disorders, this fourth and last paper in the series addresses some critical challenges facing health care providers and pwCFTR-RD. Topics included are: 1) benefits and obstacles to collect data from pwCFTR-RD are discussed, together with the opportunity to integrate them into established CF-registries; 2) the potential of infants designated CRMS/CFSPID to develop a CFTR-RD and how to communicate this information; 3) a description of the challenges in genetic counseling, with particular regard to phenotypic variability, unknown long-term evolution, CFTR testing and pregnancy termination 4) a proposal for the assessment of potential barriers to the implementation and dissemination of the produced documents to health care professionals involved in the care of pwCFTR-RD and a process to monitor the implementation of the CFTR-RD recommendations; 5) clinical trials investigating the efficacy of CFTR modulators in CFTR-RD and how endpoints and outcomes might be adapted to the heterogeneity of these disorders...
February 21, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38383231/vitamin-d-status-and-variable-responses-to-supplements-depend-in-part-on-genetic-factors-in-adults-with-cystic-fibrosis
#23
JOURNAL ARTICLE
Andrew T Braun, HuiChuan J Lai, Anita Laxova, Julie A Biller, Erin K Hubertz, Zijie Zhao, Qiongshi Lu, Sangita Murali, Donna M Brown, Elizabeth A Worthey, Philip M Farrell
Vitamin D sufficiency has been difficult to achieve consistently in patients with cystic fibrosis (CF), even with robust oral supplements. To assess vitamin D status and resistance to supplementation, we studied 80 adults using 25-hydroxyvitamin D (25OHD) determinations and whole genome sequencing to construct polygenic risk scores (PRS) that aggregate variants associated with vitamin D status. The results revealed that 30 % of patients were below the threshold of 30 ng/mL and thus should be regarded as insufficient despite normal vitamin E status, a reflection of adherence to fat soluble vitamin supplementation...
February 20, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38360461/heterogeneity-of-cftr-modulator-induced-sweat-chloride-concentrations-in-people-with-cystic-fibrosis
#24
JOURNAL ARTICLE
E T Zemanick, I Emerman, M McCreary, N Mayer-Hamblett, M N Warden, K Odem-Davis, D R VanDevanter, C L Ren, J Young, M W Konstan
BACKGROUND: Sweat chloride (SC) concentrations in people with cystic fibrosis (PwCF) reflect relative CF transmembrane conductance regulator (CFTR) protein function, the primary CF defect. Populations with greater SC concentrations tend to have lesser CFTR function and more severe disease courses. CFTR modulator treatment can improve CFTR function within specific CF genotypes and is commonly associated with reduced SC concentration. However, SC concentrations do not necessarily fall to concentrations seen in the unaffected population, suggesting potential for better CFTR treatment outcomes...
February 14, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38360460/inhaled-antimicrobial-prescribing-for-pseudomonas-aeruginosa-infections-in-europe
#25
JOURNAL ARTICLE
Callum M Sloan, Laura J Sherrard, Gisli G Einarsson, Lieven J Dupont, Silke van Koningsbruggen-Rietschel, Nicholas J Simmonds, Damian G Downey
BACKGROUND: Prescribers have an increasing range of inhaled antimicrobial formulations to choose from when prescribing both eradication and chronic suppression regimens in cystic fibrosis (CF). This study aimed to investigate the decision-making process behind prescribing of inhaled antimicrobials for Pseudomonas aeruginosa infections. METHODS: A questionnaire was developed using Microsoft Forms and then forwarded to 57 Principal Investigators (PIs), at each of the CF centres within the European Cystic Fibrosis Society-Clinical Trials Network (ECFS-CTN)...
February 14, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38355351/the-importance-of-understanding-cost-burden-in-cf
#26
LETTER
Olivia Dieni, Bruce Marshall, Mary Dwight
No abstract text is available yet for this article.
February 13, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38355350/the-effect-of-discontinuing-hypertonic-saline-or-dornase-alfa-on-mucociliary-clearance-in-elexacaftor-tezacaftor-ivacaftor-treated-people-with-cystic-fibrosis-the-simplify-mcc-study
#27
JOURNAL ARTICLE
Scott H Donaldson, Timothy E Corcoran, Joseph M Pilewski, Beth L Laube, Peter Mogayzel, Agathe Ceppe, Jihong Wu, Kirby Zeman, Steven M Rowe, David P Nichols, Alex H Gifford, William D Bennett, Nicole Mayer-Hamblett
Many people with CF (pwCF) desire a reduction in inhaled treatment burden after initiation of elexacaftor/tezacaftor/ivacaftor. The randomized, open-label SIMPLIFY study showed that discontinuing hypertonic saline (HS) or dornase alfa (DA) was non-inferior to continuation of each treatment with respect to change in lung function over a 6-week period. In this SIMPLIFY substudy, we used gamma scintigraphy to determine whether discontinuation of either HS or DA was associated with deterioration in the rate of in vivo mucociliary clearance (MCC) in participants ≥12 years of age...
February 13, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38342635/pancreatic-enzyme-prescription-following-ivacaftor-licensing-a-retrospective-analysis-of-the-us-and-uk-cystic-fibrosis-registries
#28
JOURNAL ARTICLE
Rebecca Calthorpe, Margaret Rosenfeld, Christopher H Goss, Nicole Green, Mark Derleth, Siobhán B Carr, Alan Smyth, Iain Stewart
BACKGROUND: Relieving gastrointestinal symptoms is a research priority in cystic fibrosis. Emerging evidence highlights effects of cystic fibrosis transmembrane conductance regulator (CFTR) modulators on gastrointestinal function, including pancreatic sufficiency. This study explores ivacaftor licensing and treatment on recorded pancreatic enzyme replacement therapy (PERT) prescription in the US and UK CF registries. METHODS: Retrospective longitudinal registry study of recorded pancreatic PERT use between 2008 and 2017...
February 10, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38320875/an-emotional-journey-caregiver-experiences-with-gastrostomy-tube-decision-making-for-children-with-cystic-fibrosis
#29
JOURNAL ARTICLE
Kimberly M Dickinson, Brandon M Smith, Deanna M Green, Samya Nasr, Gregory S Sawicki, Michael S Schechter, Kristin A Riekert
BACKGROUND: Nutritional challenges are common in early CF care and stressful for caregivers of children with CF (cwCF) to navigate. Gastrostomy tube (G-tube) placement can improve weight gain, however the decision to proceed with placement is personalized and preference-sensitive. Little is known about the experiences of caregivers of cwCF and the G-tube decision-making process. OBJECTIVES: The present study used a qualitative approach to explore the perceptions and experiences of caregivers of cwCF with G-tube introductions and recommendations, as well as factors influencing G-tube decision-making...
February 5, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38320874/first-report-of-whole-cftr-gene-duplication-in-a-healthy-newborn-carrying-r74w-and-v855i-variants-on-the-same-allele
#30
JOURNAL ARTICLE
Anna Diana, Angela Maria Polizzi, Annunziata De Luisi, Maria Giuseppina Pantaleo, Giuseppina Leonetti, Simonetta Simonetti, Nenad Bukvic, Matteo Iacoviello, Roberta Bucci, Mattia Gentile, Nicoletta Resta
Cystic fibrosis (CF) is the most common severe autosomal recessive genetic disorder among Caucasians. The improvement of genetic techniques has allowed the identification of an increasing number of genetic variants, including large rearrangements such as duplications. We report the first case of a whole CFTR gene duplication in a healthy newborn, who had normal sweat test, also carrying R74W and V855I variants on the same allele. Familial segregation analysis and the observed frequencies of all the CFTR gene variants, revealed that R74W and V855I were probably both present in a cis arrangement on the allele also containing the duplication (i...
February 5, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38311513/optimizing-sexual-reproductive-health-of-men-and-women-with-cystic-fibrosis-a-systematic-review
#31
REVIEW
Anand G Iyer, Benjamin Yu, Amit Reddy, Mohit Khera
This systematic review summarizes the impact of cystic fibrosis (CF) on sexual and reproductive health (SRH) in males and females, covering pubertal development, hormonal function, family planning, and fertility. Included articles featured historical CF diagnostic criteria, preclinical or clinical data (retrospective cohorts or open label trials), while excluded articles lacked full text availability, explicit methodology, or comparisons between CF and non-CF patients. Genotype differences in CFTR mutations influenced symptom severity...
February 3, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38307802/nontuberculous-mycobacterial-pulmonary-infections-in-the-era-of-elexacaftor-tezacaftor-ivacaftor
#32
EDITORIAL
Christina M Mingora, Lindsay J Caverly
No abstract text is available yet for this article.
February 1, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38290918/elexacaftor-tezacaftor-ivacaftor-in-liver-or-kidney-transplanted-people-with-cystic-fibrosis-using-tacrolimus-a-drug-drug-interaction-study
#33
JOURNAL ARTICLE
Renske van der Meer, Erik B Wilms, Margot N Eggermont, Helena M Paalvast, Matthijs van Luin, Richard C J M van Rossen, Harry G M Heijerman
BACKGROUND: The use of elexacaftor/tezacaftor/ivacaftor (ETI) in people with cystic fibrosis (pwCF) after solid organ transplantation is controversial because of potential drug-drug interactions (DDI) with tacrolimus. We aimed to improve insight into the safety and clinical benefits of co-administration of ETI and tacrolimus in liver or kidney transplanted adult pwCF. METHODS: In 5 pwCF, tacrolimus concentrations were monitored during 2 weeks before and 4 weeks after starting ETI treatment...
January 29, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38281825/subtherapeutic-triazole-concentrations-as-result-of-a-drug-drug-interaction-with-lumacaftor-ivacaftor
#34
JOURNAL ARTICLE
T J L Smeets, H van der Sijs, H M Janssens, E J Ruijgrok, B C M de Winter
Lumacaftor/ivacaftor (Orkambi®, LUM/IVA) is indicated for the treatment of cystic fibrosis (CF) patients aged ≥ 2 years with homozygous F580del mutation in the CFTR gene. Triazole fungal agents are used to treat fungal disease in CF. The use of triazoles is limited by pharmacokinetic challenges, such as drug-drug interactions. The most notable drug-drug interaction between triazoles and LUM/IVA is due to strong induction of CYP3A4 and UGT by LUM. In this real-world retrospective observational study, we described the effect of LUM/IVA on the trough concentration of triazoles...
January 27, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38246828/key-inflammatory-markers-in-bronchoalveolar-lavage-predict-bronchiectasis-progression-in-young-children-with-cf
#35
JOURNAL ARTICLE
Hamed Horati, Camilla Margaroli, Joshua D Chandler, Matthew B Kilgore, Badies Manai, Eleni-Rosalina Andrinopoulou, Limin Peng, Lokesh Guglani, Harm A M W Tiddens, Daan Caudri, Bob J Scholte, Rabindra Tirouvanziam, HettieM Janssens
INTRODUCTION: Inflammation appears early in cystic fibrosis (CF) pathogenesis, with specific elevated inflammatory markers in bronchoalveolar lavage fluid (BALF) correlating with structural lung disease. Our aim was to identify markers of airway inflammation able to predict bronchiectasis progression over two years with high sensitivity and specificity. METHODS: Children with CF with two chest computed tomography (CT) scans and bronchoscopies at a two-year interval were included (n= 10 at 1 and 3 years and n= 27 at 3 and 5 years)...
January 20, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38233247/standards-for-the-care-of-people-with-cystic-fibrosis-cf-recognising-and-addressing-cf-health-issues
#36
JOURNAL ARTICLE
Pierre-Régis Burgel, Kevin W Southern, Charlotte Addy, Alberto Battezzati, Claire Berry, Jean-Philippe Bouchara, Edwin Brokaar, Whitney Brown, Pilar Azevedo, Isabelle Durieu, Miquel Ekkelenkamp, Felicity Finlayson, Julian Forton, Johanna Gardecki, Pavla Hodkova, Gina Hong, Jacqueline Lowdon, Su Madge, Clémence Martin, Edward McKone, Anne Munck, Chee Y Ooi, Lucy Perrem, Amanda Piper, Andrew Prayle, Felix Ratjen, Margaret Rosenfeld, Don B Sanders, Carsten Schwarz, Giovanni Taccetti, Claire Wainwright, Natalie E West, Michael Wilschanski, Amanda Bevan, Carlo Castellani, Pavel Drevinek, Silvia Gartner, Andrea Gramegna, Elise Lammertyn, Eddie Edwina C Landau, Barry J Plant, Alan R Smyth, Silke van Koningsbruggen-Rietschel, Peter G Middleton
This is the third in a series of four papers updating the European Cystic Fibrosis Society (ECFS) standards for the care of people with CF. This paper focuses on recognising and addressing CF health issues. The guidance was produced with wide stakeholder engagement, including people from the CF community, using an evidence-based framework. Authors contributed sections, and summary statements which were reviewed by a Delphi consultation. Monitoring and treating airway infection, inflammation and pulmonary exacerbations remains important, despite the widespread availability of CFTR modulators and their accompanying health improvements...
January 16, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38233246/drug-induced-liver-injury-associated-with-elexacaftor-tezacaftor-ivacaftor-a-pharmacovigilance-analysis-of-the-fda-adverse-event-reporting-system-faers
#37
JOURNAL ARTICLE
Alan Shi, Harold Nguyen, C Benson Kuo, Paul M Beringer
INTRODUCTION: The efficacy and safety of elexacaftor/tezacaftor/ivacaftor (ETI) have been established in prospective clinical trials. Liver function test elevations were observed in a greater proportion of patients receiving ETI compared with placebo; however, the relatively small number of patients and short duration of study preclude detection of rare but clinically significant associations with drug-induced liver injury (DILI). To address this gap, we assessed the real-world risk of DILI associated with ETI through data mining of the FDA adverse event reporting system (FAERS)...
January 16, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38220475/preventive-service-utilization-among-adults-with-cystic-fibrosis-covered-by-private-insurance-is-comparable-to-the-general-population
#38
JOURNAL ARTICLE
Sankalp Malhotra, J Madison Hyer, Djhenne Dalmacy, Don Hayes, Dmitry Tumin, Stephen E Kirkby, Daniel E Jonas, Seuli Bose-Brill, Susan S Li
BACKGROUND: As the life expectancy of the cystic fibrosis (CF) population is lengthening with modulator therapies, diligent age-appropriate screening and preventive care are increasingly vital for long-term health and wellbeing. METHODS: We performed a retrospective analysis comparing rates of receiving age- and sex-appropriate preventive services by commercially insured adult people with CF (PwCF) and adults without CF from the general population (GP) via the Truven Health MarketScan database (2012-2018)...
January 13, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38218661/elexacaftor-tezacaftor-ivacaftor-improves-chronic-rhinosinusitis-detected-by-magnetic-resonance-imaging-in-children-with-cystic-fibrosis-on-long-term-therapy-with-lumacaftor-ivacaftor
#39
JOURNAL ARTICLE
Lena Wucherpfennig, Johanna K Z Becker, Felix Wuennemann, Monika Eichinger, Angelika Seitz, Ingo Baumann, Mirjam Stahl, Simon Y Graeber, Shengkai Zhao, Jaehi Chung, Jens-Peter Schenk, Abdulsattar Alrajab, Hans-Ulrich Kauczor, Marcus A Mall, Olaf Sommerburg, Mark O Wielpütz
INTRODUCTION: Previous studies using magnetic resonance imaging (MRI) demonstrated early onset and progression of chronic rhinosinusitis (CRS) from infancy to school age, and response to lumacaftor/ivacaftor (LUM/IVA) therapy in children with cystic fibrosis (CF). However, the effect of elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) on CRS detected by MRI in children with CF and at least one F508del mutation, and potential incremental effects of ELX/TEZ/IVA compared to LUM/IVA in F508del homozygous children have not been studied...
January 12, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://read.qxmd.com/read/38199892/nasal-lavage-microbiome-but-not-nasal-swab-microbiome-correlates-with-sinonasal-inflammation-in-children-with-cystic-fibrosis
#40
JOURNAL ARTICLE
Jaehi Chung, Sébastien Boutin, Dario L Frey, Cornelia Joachim, Marcus A Mall, Olaf Sommerburg
BACKGROUND: Cystic fibrosis (CF) is characterized by highly viscous mucus obstructing the lower and upper airways, chronic neutrophil inflammation and infection resulting not only in lung destruction but also in paranasal sinus involvement. The pathogenesis of CF-associated chronic rhinosinusitis (CRS) is still not well understood, and it remains unclear how the microbiome in the upper airways (UAW) influences paranasal sinus inflammation. METHODS: In a cross-sectional study in pediatric patients with CF under stable disease conditions, we examined the microbiome in relation to inflammation by comparing nasal swabs (NS) and nasal lavage (NL) as two UAW sampling methods...
January 9, 2024: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
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