Aquagenic wrinkling in children under two years of age: Could this be a potential clinical referral tool for cystic fibrosis among non-screened populations?
In recent years, we have seen significant improvement in care for people with cystic fibrosis (PWCF). Among PWCF living in developed countries, drivers of these improvements include earlier diagnosis by newborn screening (NBS), improved nutrition, high standards of care, highly transparent outcomes, tracking registries, and expectations of consistent care at CF centers [1 –3]. In these countries, organization to conduct research by consistent protocols, both clinical and observational, have yielded therapies and treatment standards. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - May 17, 2021 Category: Respiratory Medicine Authors: Grace R. Paul, Shasha Bai, Kenneth Jackson, Karen S. McCoy Tags: Original Article Source Type: research

Lack of CFTR alters the ferret pancreatic ductal epithelial secretome and cellular proteome: Implications for exocrine/endocrine signaling
Cystic Fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a Cl – and HCO3– channel [1]. While lung disease is the most life-threatening component of CF, damage to the pancreas causes significant morbidity and worsens the progression of lung disease. In this context, acinar cell loss in the CF pancreas leads to pancreatic insufficiency and poor nutritional s tatus [2], and islet dysfunction leads to the development of CF related diabetes (CFRD) [3]—both worsen CF pulmonary function and life expectancy. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - May 17, 2021 Category: Respiratory Medicine Authors: Pavana G. Rotti, Idil A Evans, Yulong Zhang, Bo Liang, Nathan Cunicelli, Yunxia O'Malley, Andrew W. Norris, Aliye Uc, John F. Engelhardt Tags: Original Article Source Type: research

Targeted exhaled breath analysis for detection of Pseudomonas aeruginosa in cystic fibrosis patients
Cystic fibrosis (CF) is a recessively inherited, progressive multi-organ disease that results in infection of the respiratory tract by pathogens such as Pseudomonas aeruginosa (PA). Infection is associated with increased morbidity, greater decline in lung function, and increased time in hospital [1 –6]. Eradication of PA should be initiated swiftly, but monitoring of colonisation is based on microbial sputum cultures, which frequently cannot be obtained in young CF patients. Alternatives to sputum cultures are either less sensitive (throat swabs) or highly invasive (bronchoscopy) [7]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - May 17, 2021 Category: Respiratory Medicine Authors: Renate Kos, Paul Brinkman, Anne H. Neerincx, Tamara Paff, Marije G. Gerritsen, Ariana Lammers, Aletta D. Kraneveld, Harry G.M. Heijerman, Hettie M. Janssens, Jane C. Davies, Christof J. Majoor, Els J. Weersink, Peter J. Sterk, Eric G. Haarman, Lieuwe D. B Source Type: research

Pharmacokinetic interactions between ivacaftor and cytochrome P450 3A4 inhibitors in people with cystic fibrosis and healthy controls
Cystic Fibrosis (CF) is a severe, progressive, life-shortening inherited disease and is caused by mutations in the gene that encodes for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR) [1,2]. This protein, an epithelial chloride channel, has important regulatory functions in various organs. Absence or dysfunction of this chloride channel causes symptoms in multi organ systems. Therefore, multiple drugs are needed to treat this complicated disease. Most therapies for CF treat the secondary consequence of the disease. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - May 15, 2021 Category: Respiratory Medicine Authors: Renske van der Meer, Erik B Wilms, Richart Sturm, Harry G.M. Heijerman Tags: Letter to the Editor Source Type: research

Rapid cystic fibrosis lung-function decline and in-vitro CFTR modulation
New treatments targeting the underlying defect in cystic fibrosis (CF) have dramatically improved outcomes for select cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. Highly effective modulators are available for ivacaftor-responsive variants (10-15% of CF patients) [1] and/or a copy of the most common CFTR variant, F508del (up to 85%) [2,3]. In-vitro CFTR function quantification and modulation using human nasal epithelial (HNE) cells indicate clear and direct relationships between in-vitro and short-term in-vivo responses (e.g.: CFTR-dependent chloride transport, mucociliary clearance, lung funct...
Source: Journal of Cystic Fibrosis - May 3, 2021 Category: Respiratory Medicine Authors: Emrah Gecili, Weiji Su, Cole Brokamp, Eleni-Rosalina Andrinopoulou, Francis J. LaRosa III, Teresa Pestian, John P. Clancy, George M. Solomon, John J. Brewington, Rhonda D. Szczesniak Tags: Letter to the Editor Source Type: research

Clinical characteristics of Pseudomonas and Aspergillus co-infected cystic fibrosis patients: A UK registry study
Cystic fibrosis (CF) is a common, life-limiting, autosomal-recessive disease associated with airway damage and a progressive functional decline in respiratory health [2]. The underlying genetic defect leads to the presence of thick, tenacious mucus and reduced airway mucociliary clearance resulting in inflammation and infection with a complex polymicrobial community that adapts to become persistent [3 –5]. Pseudomonas aeruginosa (Pa), a highly versatile Gram-negative bacterium, remains the most common airway pathogen in CF patients. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - May 3, 2021 Category: Respiratory Medicine Authors: Dominic A. Hughes, Olga Archangelidi, Matthew Coates, Darius Armstrong-James, Stuart J. Elborn, Siobh án B. Carr, Jane C. Davies Tags: Original Article Source Type: research

The prevalence of aberrations in body composition in pediatric cystic fibrosis patients and relationships with pulmonary function, bone mineral density, and hospitalizations
Body mass index (BMI) correlates with clinical outcomes in cystic fibrosis but has limitations.  Body composition aberrations in CF are multifactorial. We sought to evaluate body composition and relationships with pulmonary function, bone health, and hospital admissions. Other aims included defining body composition indices in a cohort of children with CF. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 29, 2021 Category: Respiratory Medicine Authors: Hannah Ritchie, Marcia Nahikian-Nelms, Kristen Roberts, Susan Gemma, Ala Shaikhkhalil Tags: Original Article Source Type: research

Diversity of cystic fibrosis chronic rhinosinusitis microbiota correlates with different pathogen dominance
Chronic rhinosinusitis (CRS) reaches a strikingly high prevalence among CF adults (>99%) [1]. While there are several proposed causes of CF-associated CRS (CF-CRS), including abnormal sinus anatomy and aberrant immune responses [2], bacterial infection remains widely implicated [3,4]. The “unified airway” model, whereby microbiota adapt to the upper airways prior to migration to the lungs has become a major impetus for studying CF-CRS microbiology [5,6]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 27, 2021 Category: Respiratory Medicine Authors: Sarah K. Lucas, Erin Feddema, Holly C. Boyer, Ryan C. Hunter Tags: Short Communication Source Type: research

Guiding the rational design of patient-centred drug trials in Cystic Fibrosis: A Delphi study
Ensuring that research is patient-centred is a priority of research organisations including the CF specific networks [1,2]. Within the clinical space, common themes of defining patient-centred care include improving access to care, ensuring patients ’ physical comfort during treatment, providing appropriate emotional support and identifying and respecting patients’ preferences in order to deliver care that is meaningful and valuable to patients [3,4]. Although less well defined in the trials space, integrating these attributes into trial de livery improves recruitment and retention to trials, participant satisf...
Source: Journal of Cystic Fibrosis - April 21, 2021 Category: Respiratory Medicine Authors: R. Dobra, J.S. Elborn, S. Madge, L. Allen, M. Boeri, F. Kee, S. Goundry, T. Purcell, C. Saunders, J.C. Davies Tags: Original Article Source Type: research

A survey of the prevalence, management and outcome of infants with an inconclusive diagnosis following newborn bloodspot screening for cystic fibrosis (CRMS/CFSPID) in six Italian centres
Many countries and regions across the globe now include cystic fibrosis (CF) in the panel of newborn bloodspot screening (NBS) conditions and this strategy has facilitated the early identification and management of infants with CF [1-3]. A less satisfactory outcome from NBS for CF has been the recognition of infants with a positive NBS result but an inconclusive diagnosis [4,5]. These healthy infants are designated as CF Transmembrane Conductance Regulator (CFTR)-related Metabolic Syndrome/CF, Screen Positive, Inconclusive Diagnosis (CRMS/CFSPID). (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 18, 2021 Category: Respiratory Medicine Authors: Vito Terlizzi, Laura Claut, Antonella Tosco, Carla Colombo, Valeria Raia, Benedetta Fabrizzi, Marco Lucarelli, Antonio Angeloni, Giuseppe Cimino, Alice Castaldo, Laura Marsiglio, Silviana Timpano, Natalia Cirilli, Laura Moroni, Filippo Festini, Pietro Pic Tags: Original Article Source Type: research

Meconium Ileus due to GUCY2C gene mutations in three unrelated South Indian families
Meconium ileus (MI) typically occurs in infants subsequently diagnosed with cystic fibrosis (CF). Apart from prematurity and anecdotal case reports of congenital malformations of the gut and pancreas, the only other pathophysiological cause of MI is the recently described homozygous loss of function mutations in the GUCY2C gene. GUCY2C gene mutations causing MI were first identified in Israeli Bedouin kindred and subsequently in a Lebanese family [1,2]. The gene encodes for a trans-membrane protein called guanylate cyclase 2C. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 18, 2021 Category: Respiratory Medicine Authors: Sneha Varkki, Antony Terance Benjamin, Rekha Athiyarath, Sumita Danda, Ravikumar Sowmya, Gary Connett Tags: Case Report Source Type: research

Incidence of SARS-CoV-2 in people with cystic fibrosis in Europe between February and June 2020
SARS-CoV-2, the novel Severe Acute Respiratory Syndrome Coronavirus 2 causing Covid-19, was declared a pandemic in March 2020 by the World Health Organization (WHO). Western Europe was heavily affected in the first half of 2020. Covid-19 morbidity and mortality are highest in the elderly and in people with underlying chronic illnesses [1]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 17, 2021 Category: Respiratory Medicine Authors: Naehrlich Lutz, Orenti Annalisa, Dunlevy Fiona, Kasmi Irena, Harutyunyan Satenik, Pfleger Andreas, Bobrovnichy Vladimir, Keegan Svetlana, Daneau G éraldine, Petrova Guergana, Bambir Ivan, Dugac Vukic Andrea, Tješić-Drinković Duška, Yiallouros Panayio Source Type: research

Improving and standardizing protocols for cystic fibrosis routine microbiology
Lungs of patients with cystic fibrosis (CF) are frequently colonized by a plethora of microbial species, which may cause respiratory infections and an inflammatory reaction that progressively lead to deterioration of the lung function. While the emergence of metagenomics approaches has provided a large overview of bacteria, fungi, and viruses that can be part of the CF lung microbiome, we are still today extremely far from having an exhaustive vision of the adaptative mechanisms developed by these microorganisms in response to the particular microenvironment they encounter in the CF airways [1]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 17, 2021 Category: Respiratory Medicine Authors: Nicolas Papon, Jean-Philippe Bouchara Tags: Correspondence Source Type: research

Optimising equity of access: how should we allocate slots to the most competitive trials in Cystic Fibrosis (CF)?
New drug developments in CF make this an exciting time to be involved in trials. Nearly 100 drugs are in the pipeline, including multiple cystic fibrosis transmembrane conductance regulator (CFTR) modulators [1], molecules restoring function of the defective CFTR protein rather than targeting symptoms and complications. Positive data from modulator trials have been widely discussed within the UK CF community, but post-approval funding has frequently required complex and time-consuming negotiation. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 16, 2021 Category: Respiratory Medicine Authors: R. Dobra, G. Davies, K. Pike, C. Strassle, L. Allen, R. Brendell, K. Brownlee, S.B. Carr, N.J. Simmonds, J.C. Davies, London Network of Clinical Trials Accelerator Platform sites and affiliates Tags: Original Article Source Type: research

COVID-19 vaccine prioritisation for people with cystic fibrosis
With COVID-19 vaccinations rolling out across the globe we would like to raise our concerns about the variation in vaccine prioritisation of people with cystic fibrosis (CF). The ‘Global Registry Harmonization Group’ (GRHG) formed in March 2020 to act quickly in capturing information about people with CF infected with SARS-CoV-2. The intention was to inform people with CF, their care givers, their clinical teams, and policy makers of the impact of catching SARS-CoV-2 [1– 3]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 15, 2021 Category: Respiratory Medicine Authors: Siobh án B Carr, Rebecca Cosgriff, Satenik Harutyunyan, Peter G Middleton, Rasa Ruseckaite, Susannah Ahern, Géraldine Daneau, Luiz Vicente R F da Silva Filho, Anne L Stephenson, Stephanie Y Cheng, Joel Melo, Harriet Corvol, Pierre-Régis Burgel, Lutz N Tags: Letter to the Editor Source Type: research

Temporal trends in healthcare resource use and associated costs of patients with cystic fibrosis
Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene [1]. CFTR protein dysfunction induces a multisystem disease including respiratory manifestations and pancreatic, liver and gastrointestinal diseases. The prognosis remains dominated by the pulmonary manifestations leading to respiratory exacerbations and lung function decline [1]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 14, 2021 Category: Respiratory Medicine Authors: Isabelle Durieu, Faustine Dalon, Quitterie Reynaud, Lydie Lemonnier, Cl émence Dehillotte, Marjorie Bérard, Déborah Walther, Marie Viprey, Eric Van Ganse, Manon Belhassen Tags: Original Article Source Type: research

Comparative meta-analysis of cystic fibrosis cell models suggests partial endothelial-to-mesenchymal transition
Cystic fibrosis (CF) is a rare progressive disease, caused by bi-allelic pathogenic variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is characterized by defective pulmonary mucociliary clearance leading to protracted inflammation and subsequent lung damage. Such inflammatory-driven lung damage is a well-known inducer of epithelial-to-mesenchymal transition (EMT), which can in turn lead to fibrosis, a disease mechanism of several lung diseases [1]. As such, transcriptomic meta-analysis has demonstrated that EMT, injury and inflammation were shared features between CF airway epithelium and ...
Source: Journal of Cystic Fibrosis - April 13, 2021 Category: Respiratory Medicine Authors: Lucas Treps, Mathias Declercq, Siham Bousfia, Peter Carmeliet, Peter Witters Tags: Short communication Source Type: research

Normal pancreatic function and false-negative CF newborn screen in a child born to a mother taking CFTR modulator therapy during pregnancy
This report describes the first known case of an infant with cystic fibrosis (CF) whose mother was on highly effective modulator therapy (HEMT) throughout the pregnancy. The mother of the infant started taking the HEMT elexacaftor/tezacaftor/ivacaftor (E/T/I) in November 2019, shortly after US FDA approval of that medication. Prior to HEMT, she and her husband had been trying unsuccessfully to conceive a child. A recent review summarizes reproductive health in CF and the impact of CFTR modulators [1]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 9, 2021 Category: Respiratory Medicine Authors: Christopher N. Fortner, Julie M. Seguin, Denise M. Kay Tags: Case report Source Type: research

SARS-CoV-2 and Burkholderia cenocepacia infection in a patient with Cystic Fibrosis: an unfavourable conjunction?
Data so far collected by Cystic Fibrosis (CF) patient registries and Centers consortia suggest that in most patients with CF (pwCF) COVID-19 is less severe than initially predicted [1]. However, a subset of pwCF with well known negative CF prognostic factors, like diabetes and severely impaired lung function,have been shown to be prone to worse COVID-19 outcomes [2]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 8, 2021 Category: Respiratory Medicine Authors: C. Olcese, R. Casciaro, D. Pirlo, C. Debbia, E. Castagnola, F. Cresta, C. Castellani Tags: Case Report Source Type: research

Peripheral lung effect of elexacaftor/tezacaftor/ivacaftor in adult cystic fibrosis
Elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) significantly reduced symptoms and improved forced expiratory volume in one second (FEV1) in randomized controlled trials (RCTs) in both Phe508del homozygous (F/F) [1] and Phe508del heterozygous patients with a minimal function mutation (F/MF) [2]. Patients with an FEV1 below 40%predicted were deliberately excluded from these RCTs. A mono-centric Irish study in 14 adult CF patients with FEV1 below 40%predicted demonstrated an increase of 10.6%predicted in FEV1 at four weeks along with a reduction in pulmonary exacerbation rate during a 5 month follow-up [3]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 6, 2021 Category: Respiratory Medicine Authors: Dimitri Stylemans, Chantal Darquenne, Dani ël Schuermans, Sylvia Verbanck, Eef Vanderhelst Tags: Short communication Source Type: research

Pregnancy in women with Cystic Fibrosis in the 21st century
Cystic Fibrosis (CF) has changed dramatically in the last 50 years. From a severe life limiting disease of young children, CF has been transformed by multidisciplinary care so that the vast majority of people with CF now live into adulthood. With increasing survival, more women with CF are seeking to become mothers. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 5, 2021 Category: Respiratory Medicine Authors: Peter G Middleton Tags: Editorial Source Type: research

Optical Measurements of Sweat for in Vivo Quantification of CFTR Function in Individual Sweat Glands
Sweat Cl − is the gold standard for the diagnosis of CF; its limitations for diagnosis and monitoring the effects of CFTR-targeted drugs include “borderline” results and intra-subject variability [1]. CFTR-dependent sweating is induced by beta-adrenergic stimulation upon increased intracellular cAMP, w hereas CFTR-independent sweating is mediated by cholinergic stimulation that induces Ca²⁺-dependent Cl⁻ secretion [2]. Defective CFTR affects sweat production in response to beta-adrenergic stimulation. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 1, 2021 Category: Respiratory Medicine Authors: Davide Treggiari, Karina Kleinfelder, Marina Bertini, Gloria Tridello, Arianna Fedrigo, Emily Pintani, Patrizia Iansa, Antonella Casiraghi, Paola Minghetti, Marco Cipolli, Claudio Sorio, Paola Melotti Tags: Short Communication Source Type: research

Nasal high-flow therapy as an adjunct to exercise in patients with cystic fibrosis: A pilot feasibility trial
Cystic fibrosis (CF) is a progressive, multi-system disease that primarily affects the respiratory system [1]. Despite significant improvement in the care of patients with CF and in life expectancy, approximately 20% of patients continue to develop severe lung disease by the age of 30 [2]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 1, 2021 Category: Respiratory Medicine Authors: Giulia Spoletini, Ruth Watson, Wang Yng Lim, Kim Pollard, Christine Etherington, Ian J Clifton, Daniel G Peckham Tags: Original Article Source Type: research

A mutational approach to dissect the functional role of the putative CFTR “PTM-CODE”
The deletion of phenylalanine at position 508 (F508del) in CFTR is the most frequent mutation causative of Cystic Fibrosis (CF). F508-deletion is responsible for defective folding and processing of CFTR, which fails to traffic to the plasma membrane (PM) and causes the majority of CFTR protein to be retained in the endoplasmic reticulum with premature degradation. CFTR is subjected to different post-translational modifications (PTMs) [1 –4] and the possibility to modulate these PTMs has been suggested as a potential therapeutic strategy for the functional recovery of mutated forms. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 1, 2021 Category: Respiratory Medicine Authors: Claudio D'Amore, Christian Borgo, Mauro Salvi Source Type: research

Ursodeoxycholic acid and liver disease associated with cystic fibrosis: A multicenter cohort study
Liver disease is a common complication in cystic fibrosis (CF) that occurs mainly during the first and second decade of life with a prevalence of about 30% at 12 years of age [1 –3]. In the advanced stage, it is associated with pulmonary function decline, deterioration of nutritional status and increased risk of death [4]. Longitudinal studies found that 20-30% of CF subjects will develop focal biliary cirrhosis and 5-10% multilobular cirrhosis [2], which is often complic ated by portal hypertension (PH). (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 1, 2021 Category: Respiratory Medicine Authors: Carla Colombo, Gianfranco Alicandro, Mark Oliver, Peter J Lewindon, Grant A Ramm, Chee Y. Ooi, Federico Alghisi, Nataliya Kashirskaya, Elena Kondratyeva, Fabiola Corti, Rita Padoan, Irina Asherova, Helen Evans, Isabelle de Monestrol, Birgitta Strandvik, A Tags: Original Article Source Type: research

Real-world use of ivacaftor in Canada: A retrospective analysis using the Canadian Cystic Fibrosis Registry
Cystic fibrosis (CF) is an autosomal recessive disease that is associated with a significant reduction in life expectancy along with multiple comorbidities including recurrent pulmonary exacerbations, cystic fibrosis related diabetes (CFRD), and pancreatic insufficiency, amongst others. Recently, cystic fibrosis transmembrane conductance regulator (CFTR) modulators have shown remarkable improvements in outcomes. [1 –3] CFTR potentiators are considered a subtype of CFTR modulators. The CFTR potentiator ivacaftor, when used in individuals with CF who carry the G551D mutation, has been shown to increase lung function on...
Source: Journal of Cystic Fibrosis - March 30, 2021 Category: Respiratory Medicine Authors: Christopher R. Kawala, Xiayi Ma, Jenna Sykes, Sanja Stanojevic, Adele Coriati, Anne L. Stephenson Tags: Original Article Source Type: research

Minimising the risk of cross infection between siblings with cystic fibrosis (CF) within the home: Successful domestic steam disinfection of CF bacterial and foodborne pathogens on common household cutlery and crockery utensils
In this study, we examined the ability of domestic steam disinfection to eradicate 16 species of CF bacterial and foodborne pathogens from the surface of contaminated crockery and cutlery. Domestic steam disinfection employing baby bottle disinfector devices, when performed properly under manufacturer's instructions, eradicated all organisms tested and offers a relatively inexpensive, simple, versatile and widely available technology for the elimination of common CF bacterial and foodborne pathogens from contaminated crockery and cutlery utensils. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - March 27, 2021 Category: Respiratory Medicine Authors: Beverley C. Millar, John E. Moore Tags: Short Communication Source Type: research

Continuous glucose monitoring indices predict poor FEV1 recovery following cystic fibrosis pulmonary exacerbations
Despite encouraging improvements in cystic fibrosis (CF) care and therapeutics, progressive decline in lung function remains the most significant health threat and pulmonary insufficiency the main cause of death. Measures to help preserve pulmonary status are therefore of critical importance. Up to 25% of CF patients experiencing a pulmonary exacerbation (PEx) fail to recover baseline lung function following appropriate microbe-directed intravenous1antibiotic therapy [1]. Several patient factors have been implicated in an increased risk for PEx treatment failure including female sex, poor nutritional status, larger drops i...
Source: Journal of Cystic Fibrosis - March 26, 2021 Category: Respiratory Medicine Authors: Michael Pallin, Shanal Kumar, Chris Daley, Shrinkhala Dawadi, Paul Leong, Erin Carr, Georgia Soldatos Tags: Original Article Source Type: research

Emergence and impact of oprD mutations in Pseudomonas aeruginosa strains in cystic fibrosis
Cystic fibrosis (CF) is an autosomal recessive disease resulting in progressive lung damage. Pseudomonas aeruginosa lung infection in people with CF (PWCF) is common and increases with age. Established infection is associated with increased antimicrobial resistance (AMR) accompanied by intensified treatment burden, impaired quality of life and an accelerated lung function decline.[1] Some PWCF are infected with commonly shared strains. Such strains have been identified in PWCF attending Australian CF centres with AUST-02 and AUST-06 being the most prevalent in the state of Queensland. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - March 25, 2021 Category: Respiratory Medicine Authors: Laura J. Sherrard, Bryan A. Wee, Christine Duplancic, Kay A. Ramsay, Keyur A. Dave, Emma Ballard, Claire E. Wainwright, Keith Grimwood, Hanna E. Sidjabat, David M. Whiley, Scott A. Beatson, Timothy J. Kidd, Scott C. Bell Tags: Original Article Source Type: research

Patient and family perceptions of telehealth as part of the cystic fibrosis care model during COVID-19
Cystic fibrosis (CF) is a chronic multisystem disease that necessitates frequent clinical care and regular follow up. Survival in CF has improved, in part due to the consolidation of chronic CF care amongst multidisciplinary specialist teams and age-specific care centers [1]. National and international CF care guidelines recommend regular visits and frequent communication with providers at an accredited CF Care center, and this care model has been shown to improve clinical and respiratory outcomes when compared to those managed regionally [2,3]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - March 25, 2021 Category: Respiratory Medicine Authors: Davis Jaclyn, NeSmith Andrew, Perkins Ryan, Bailey Julianna, Siracusa Christopher, Chaudary Nauman, M. Powers, Sawicki Gregory S, Solomon George M Tags: Original Article Source Type: research

Elexacaftor co-potentiates the activity of F508del and gating mutants of CFTR
Cystic fibrosis (CF) is caused by loss-of-function mutations in the CF transmembrane conductance regulator (CFTR) gene, which lead to multiorgan pathology with lung disease being responsible for the majority of morbidity and mortality in CF [1]. More than 2000 mutations with varying disease liability have been identified that can be classified according to their cellular phenotype into expression (class I), folding (class II), gating (class III), conductance (class IV), quantity (class V), peripheral stability defect (class VI) associated mutants or combinations thereof [2]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - March 25, 2021 Category: Respiratory Medicine Authors: Guido Veit, Christian Vaccarin, Gergely L. Lukacs Tags: Short Communication Source Type: research

Impact of airway Exophiala spp. on children with cystic fibrosis
The role of bacterial pathogens in cystic fibrosis (CF) is well recognised, and antibacterial strategies remain a cornerstone of clinical care in CF [1]. Over recent decades however, it has been increasingly recognised that fungal pathogens may also play an important role in the pathogenesis of CF lung disease [2,3]. Aspergillus fumigatus in particular has been identified as causing airway colonization or respiratory infection in up to 60% of CF patients [4,5] and is associated with increased hospital admissions and poorer clinical outcomes [6 –8]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - March 25, 2021 Category: Respiratory Medicine Authors: Rowena Mills, Riina Rautemaa-Richardson, Stuart Wilkinson, Latifa Patel, Anirban Maitra, Alex Horsley Tags: Original article Source Type: research

Maternal and fetal outcomes following elexacaftor-tezacaftor-ivacaftor use during pregnancy and lactation
With improved therapeutic options, people with CF have experienced greater quality and quantity of life. Consequently, more women with CF have expressed interest in pregnancy [1]. Between 1998 and 2018, pregnancies in women with CF in the U.S. doubled from 140 to 280, and peaked at 310 in 2019 [2]. Based on previous work demonstrating further increases in pregnancy rates following the approval of CFTR modulator therapy [3], the number of pregnancies with CF will likely continue to increase. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - March 22, 2021 Category: Respiratory Medicine Authors: Jennifer L. Taylor-Cousar, R. Jain Source Type: research

Rates of adverse and serious adverse events in children with cystic fibrosis
Cystic fibrosis (CF) is an autosomal recessive disease characterized by chronic sinopulmonary symptoms and chronic gastrointestinal symptoms that begins in infancy [1]. There have been tremendous advances in CF care and drugs targeting aspects of the disease, with new cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies offering the promise to significantly alter the trajectory of CF lung disease for a majority of patients. Children with CF are increasingly being included in clinical trials. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - March 18, 2021 Category: Respiratory Medicine Authors: Jessica E. Pittman, Umer Khan, Theresa A. Laguna, Sonya Heltshe, Christopher H. Goss, Don B. Sanders Tags: Original article Source Type: research

Health care costs related to home spirometry in the eICE randomized trial
Acute pulmonary exacerbations (PEs) are key clinical events for CF patients and pose a significant threat to their long term lung function [1]. In 25% of PEs, lung function does not recover to baseline [2 –4]. PEs have also been connected to decreased quality of life even after controlling for lung function, nutritional status and demographic factors [5]. In addition, PE-associated healthcare costs are high, as patients experiencing acute PEs are likely to be hospitalized and receive intravenous (I V) antibiotics [6,7]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - March 12, 2021 Category: Respiratory Medicine Authors: Natalie Franz, Hannah Rapp, Ryan N. Hansen, Laura S. Gold, Christopher H. Goss, Noah Lechtzin, Larry G. Kessler Tags: Original Article Source Type: research

Efficacy and safety of inhaled dry-powder mannitol in adults with cystic fibrosis: An international, randomized controlled study
Due to improved management of cystic fibrosis (CF), patients are surviving longer, with the majority reaching adulthood. [1-4] The care of adults with CF is therefore increasingly important, and therapies should demonstrate efficacy in this population. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - March 11, 2021 Category: Respiratory Medicine Authors: Patrick A. Flume, Elena Amelina, Cori L. Daines, Brett Charlton, Joanna Leadbetter, Alessandro Guasconi, Moira L. Aitken Tags: Original Article Source Type: research

The effect of oral and intravenous antimicrobials on pulmonary exacerbation recovery in cystic fibrosis
For individuals living with cystic fibrosis (CF), pulmonary exacerbations (PEx) negatively impact quality of life [1,2], lung disease progression [3], and life expectancy [4 –5]. The associated loss of lung function (as percent predicted forced expiratory volume in 1 sec; ppFEV1) during a PEx can be irreversible [6,7], and researchers have shown that each successive PEx increases the probability of experiencing another PEx within the year [7–9]. It is for these reas ons that CF clinicians have emphasized the importance of early recognition and aggressive treatment of these clinical events. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - March 5, 2021 Category: Respiratory Medicine Authors: Eden J. VanDevanter, Sonya L. Heltshe, Michelle Skalland, Noah Lechtzin, Dave Nichols, Christopher H. Goss Tags: Original article Source Type: research

Chronic incretin-based therapy in cystic fibrosis-related diabetes: A tale of 3 patients treated with sitagliptin for over 5 years
Cystic fibrosis-related diabetes (CFRD) is a common extrapulmonary co-morbidity associated with cystic fibrosis (CF) affecting 40 –50% of adult patients [1]. Management of CFRD adds a further burden to a patient and constitutes therapeutic challenges [2]. Insulin therapy is recommended [3,4] but iatrogenic hypoglycemia occurs commonly [5], also some patients are averse to an injectable. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - March 2, 2021 Category: Respiratory Medicine Authors: Samuel T. Olatunbosun Tags: Case Report Source Type: research

SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR
Modulators targeting CFTR are highly effective in treating CF [1 –5]. The first of these drugs, ivacaftor, was developed to treat patients with G551D mutations (NM_000492.4(CFTR): c.1652G>A (p.Gly551Asp)) and has now been extended to those with other gating mutations [6 –9]. Although ivacaftor has proven to be effective, there is a high level of inter-individual variation in response to the drug, even among those carrying G551D [6,10]. Therefore, elucidating specific factors responsible for this variation may inform individualized patient care. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - March 2, 2021 Category: Respiratory Medicine Authors: Alice C. Eastman, Rhonda G. Pace, Hong Dang, Melis Atalar Aksit, Briana Vecchio-Pag án, Anh-Thu N. Lam, Wanda K. O'Neal, Scott M. Blackman, Michael R. Knowles, Garry R. Cutting Source Type: research

News article
(Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - March 1, 2021 Category: Respiratory Medicine Source Type: research

Editorial Board
(Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - March 1, 2021 Category: Respiratory Medicine Source Type: research

“Il faut continuer à poser des questions” patient reported outcome measures in cystic fibrosis: An anthropological perspective
Cystic fibrosis (CF) is the most common life-limiting, autosomal recessive disease, affecting approximately 48,000 people in Europe. Symptoms include a build-up of mucus in the lungs, digestive tract and other organs resulting in lifelong complex medical management and wide-ranging challenges for pwCF and their families [1]. In recent years, there has been growing interest amongst regulatory bodies and research regarding integration of patient perspective of their illness and treatment options into the wider healthcare scene [2 –4]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - February 26, 2021 Category: Respiratory Medicine Authors: Rosa Coucke, Audrey Chansard, V éronique Bontemps, Dominique Grenet, Dominique Hubert, Clémence Martin, Elise Lammertyn, Emmanuelle Bardin, Veerle Bulteel, Frédérique Chedevergne, Muriel Le Bourgeois, Pierre-Régis Burgel, Isabelle Honore, Hilde de Ke Tags: Original Article Source Type: research

Limb muscle size and contractile function in adults with cystic fibrosis: A systematic review and meta-analysis
The life expectancy of people with cystic fibrosis (CF) has drastically increased over the last decades [1,2]. As people with CF are living longer, there is greater attention directed towards musculoskeletal issues. Impairment in limb muscle is associated with decreased mobility and physical activity in CF [3], which is in turn associated with reduced health-related quality of life [4]. Limb muscle atrophy and muscle weakness are also associated with lower functional capacity [3] and lung function in people with CF [5,6]; and lower lean muscle mass is associated with increased mortality in CF [7], underscoring its clinical...
Source: Journal of Cystic Fibrosis - February 26, 2021 Category: Respiratory Medicine Authors: Kenneth Wu, Polyana L. Mendes, Jenna Sykes, Anne L. Stephenson, Sunita Mathur Tags: Original Article Source Type: research

Defining key outcomes to evaluate performance of newborn screening programmes for cystic fibrosis
The European Cystic Fibrosis Society (ECFS) Neonatal Screening Working Group (NSWG) aims to monitor the performance of newborn bloodspot screening (NBS) for cystic fibrosis (CF) and compare protocols to optimize effectiveness, whilst reducing negative impact in agreement with published international guidelines. 1 The NSWG has supported numerous European countries and regions to establish NBS for CF. Collecting data on the performance of programmes across Europe has been a key element in evaluating and improving quality. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - February 23, 2021 Category: Respiratory Medicine Authors: Anne Munck, Kevin W Southern, Carlo Castellani, Karin M de Winter-de Groot, Silvia Gartner, Nataliya Kashirskaya, Barry Linnane, Sarah J Mayell, Marijke Proesmans, Dorota Sands, Olaf Sommerburg, J ürg Barben, For the European CF Society Neonatal Screenin Tags: Short Communication Source Type: research

PROMISE: Working with the CF community to understand emerging clinical and research needs for those treated with highly effective CFTR modulator therapy
Clinical care and research in cystic fibrosis (CF) have been heavily influenced by the emergence of highly effective modulator drug therapies (HEMT) that target the CF transmembrane conductance regulator protein (CFTR). These CFTR modulators increase CFTR function by improving the processing, trafficking, and gating of aberrant proteins in the cell. Results show that CFTR modulators significantly, and at times dramatically, improve health outcomes and quality of life [1,2]. Herein we highlight a breadth of observational research studies now being conducted to understand the impact of HEMT regimens across a spectrum of dise...
Source: Journal of Cystic Fibrosis - February 19, 2021 Category: Respiratory Medicine Authors: Dave P. Nichols, Scott H. Donaldson, Carla A. Frederick, Steven D. Freedman, Daniel Gelfond, Lucas R. Hoffman, Andrea Kelly, Michael R. Narkewicz, Jessica E. Pittman, Felix Ratjen, Scott D. Sagel, Margaret Rosenfeld, Sarah Jane Schwarzenberg, Pradeep K. S Tags: Review Source Type: research

Withdrawal of dornase alfa increases ventilation inhomogeneity in children with cystic fibrosis
The lung clearance index (LCI) measured by multiple breath washout (MBW) is a sensitive marker of lung disease even early in life in patients with cystic fibrosis (CF) [1 –3]. Conventionally, pulmonary function in patients with CF is monitored by spirometry from school-age, using the forced expired volume in 1 second (FEV1) as primary outcome [4]. Due to advancements in clinical care, an increasing proportion of school-age children with CF have retained FEV1 withi n the normal or near-normal range over the last decades [5]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - February 19, 2021 Category: Respiratory Medicine Authors: Christian Voldby, Kent Green, Lue Philipsen, Rikke Mulvad Sandvik, Marianne Skov, Frederik Buchvald, Tacjana Pressler, Kim Gjerum Nielsen Tags: Original Article Source Type: research

Growing mold together –moving beyond standard cultures in assessing fungi in the CF airway
Airway infections and progressive lung disease associated with microbial colonization of the respiratory tract are hallmark features seen in people with cystic fibrosis (CF). Traditionally, cultures from the respiratory tract have been used to identify bacterial pathogens. Antibiotics are used to treat acute worsening of symptoms (i.e. pulmonary exacerbations), suppress chronic infection, or eradicate bacteria after initial isolation. Over the past two decades, this approach has been complicated by two parallel trends in the understanding of the microbiome in the CF respiratory tract: the increasing recovery of fungi from ...
Source: Journal of Cystic Fibrosis - February 19, 2021 Category: Respiratory Medicine Authors: Michael M. Rey, Gina Hong Tags: Editorial Source Type: research

Outcomes of cystic fibrosis pulmonary exacerbations treated with antibiotics with activity against anaerobic bacteria
Cystic fibrosis (CF) pulmonary exacerbations (PEx) are broadly defined as episodes of increased signs and symptoms of worsening clinical status, including increased cough, sputum production, and decreased lung function [1 –3]. Increased airway mucus clearance and antibiotic therapy are the cornerstones of CF PEx treatment [4]. Antibiotic selection is typically guided by the results of recent bacterial cultures of airway samples, performed using media selective for species known to be prevalent and pathogenic in peo ple with CF (e.g., Staphylococcus aureus, Pseudomonas aeruginosa, Stenotrophomonas maltophilia, Burkhol...
Source: Journal of Cystic Fibrosis - February 18, 2021 Category: Respiratory Medicine Authors: Lauren M. Castner, Madsen Zimbric, Shannon Cahalan, Corey Powell, Lindsay J. Caverly Tags: Original Article Source Type: research

Beyond phenotype: The genomic heterogeneity of co-infecting Mycobacterium abscessus smooth and rough colony variants in cystic fibrosis patients
Mycobacterium abscessus (Mabs) has emerged as one of the most difficult-to-manage opportunistic pathogen responsible for pulmonary infections, especially in cystic fibrosis (CF) patients [1]. Mabs exhibits smooth or rough colony morphotypes characterized by the presence or absence of surface-associated glycopeptidolipids (GPL), respectively. Within the GPL locus in Mabs (CIP104536T), the MAB_4099c (msp1), MAB_4098c (msp2), MAB_4097c (gap), MAB_4117c (mmpS4), MAB_4116c (mmpL4a) and MAB_4115c (mmpL4b) genes [2] have shown to play an important role in the GPL production. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - February 17, 2021 Category: Respiratory Medicine Authors: Ana Victoria Guti érrez, Sophie Alexandra Baron, Feyrouz Sonia Sardi, Jamal Saad, Bérengère Coltey, Martine Reynaud-Gaubert, Michel Drancourt Tags: Short Communication Source Type: research

Neutrophil dysfunction in cystic fibrosis
Cystic fibrosis (CF), a genetic disease caused by a mutated cystic fibrosis transmembrane conductance regulator (CFTR) gene that results in a dysfunctional or absent epithelial chloride channel, is characterized by maladaptive neutrophilic inflammation. Clinically, individuals with CF have chronic airway infections, with thick neutrophil-laden mucus, which leads to a progressive decline in lung function, ultimately resulting in early death from respiratory failure. As neutrophils are key drivers of the hyper-inflammatory state associated with CF, there remains considerable interest in understanding how CF neutrophils funct...
Source: Journal of Cystic Fibrosis - February 12, 2021 Category: Respiratory Medicine Authors: Lael M. Yonker, Anika Marand, Sinan Muldur, Alex Hopke, Hui Min Leung, Denis De La Flor, Grace Park, Hanna Pinsky, Lauren B. Guthrie, Guillermo J. Tearney, Daniel Irimia, Bryan P. Hurley Tags: Original Article Source Type: research