Sexual dysfunction in cystic fibrosis
Advances in medical treatment have increased the life expectancy of people with cystic fibrosis (pwCF). In 2022, 62.5.7 % of pwCF were adults, compared with 17.8 % in 1992 [1]. These adults must not only manage later-onset complications relating to cystic fibrosis (CF) but also face new challenges in terms of having a professional career, having personal relationships, and the desire to have children. Many studies have addressed the problems of reproductive health in pwCF since the multi-systemic nature of the disease can interfere at every stage of a person's sexual life [2 –4]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 29, 2024 Category: Respiratory Medicine Authors: Sophie Ramel, Laetitia Gueganton, Emmanuel Nowak, Jean Le Bihan, Baptiste Arnouat, Chantal Belleguic, Isabelle Danner-Boucher, Julie Mankikian, Annabelle Payet, Thierry Urban, Marion Buyse, Katelyne Hubeaux Tags: Original Article Source Type: research
Update on the diagnosis and management of cystic fibrosis pulmonary exacerbations
Although clinical outcomes for people with CF (PwCF) have dramatically improved over the last several decades, pulmonary exacerbations (PEx) remain common. PEx are clinically important events that are associated with significant morbidity and reduced quality of life. Optimal PEx diagnosis and management strategies for PwCF remain unclear, particularly in an era of highly effective Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapy (HEMT). PEx treatment guidelines do exist [1], yet most of the recommendations are consensus- rather than evidenced-based. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 27, 2024 Category: Respiratory Medicine Authors: Jonathan D. Cogen, Bradley S. Quon Source Type: research
Echocardiographic assessment of cardiovascular involvements in children with cystic fibrosis
Cystic fibrosis (CF) is a fatal disease in which the cystic fibrosis transmembrane conductance regulator (CTFR) gene is mutated, resulting in defect in CFTR protein dependent sodium and chloride transport activity. It has been proved that Dysfunction of CFTR leads to imbalance in regulating the conduction of sodium and chloride ions in epithelial cell membranes and increased mucosal viscosity, which eventually leads to a variety of abnormalities such as pulmonary infection and gastrointestinal involvement [1,2]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 27, 2024 Category: Respiratory Medicine Authors: Hosseinali Ghaffaripour, Ali Reza Norouzi, Maryam Hassanzad, Fariba Alaei, Mohammad Reza Khalilian, Hojjat Derakhshanfar, Nasrin Elahi Mehr Tags: Original Article Source Type: research
Cystic fibrosis newborn screening in Switzerland – evaluation and scenarios for improvement after 11 years of follow-up
Newborn bloodspot screening (NBS) for cystic fibrosis (CF) has become an essential component of early CF diagnosis in many countries [1,2]. The main goal of NBS programmes is to detect infants with a treatable disease early, to initiate treatment, prevent symptoms, and decrease mortality [3]. While CF-NBS programmes have benefits for children with CF, it is important to be aware of possible harmful effects. Every follow-up test, such as a second IRT measurement or sweat test, due to a false-positive CF-NBS result causes distress for the family and burdens the health-care system [4 –6]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 23, 2024 Category: Respiratory Medicine Authors: ESL Pedersen, CM de Jong Carmen, M Jurca, DO Berger, J Sanz, SHM Sluka, M Poms, MR Baumgartner, N Regamey, CE Kuehni, J Barben, CS Rueegg, Swiss Cystic Fibrosis Newborn Screening Group Tags: Original Article Source Type: research
Changes in urinary glutathione sulfonamide (GSA) levels between admission and discharge of patients with cystic fibrosis
Data from the Australian Early Respiratory Surveillance Team for Cystic Fibrosis (AREST CF) program suggests that pulmonary inflammation, infection, and structural disease can be present not only in the absence of clinical symptoms, but in patients as young as 3 months of age [1,2]. Furthermore, acute pulmonary exacerbations, particularly those requiring hospitalisation, are significantly correlated with loss of lung function and adverse lung health outcomes [3,4]. Published data suggest that exaggerated neutrophilic inflammation is a primary driver of early CF lung disease progression [1,2,5 –7]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 23, 2024 Category: Respiratory Medicine Authors: Tamara L Blake, Peter D Sly, Isabella Andersen, Claire E Wainwright, David W Reid, Scott C Bell, Briana R Smith, Anthony J Kettle, Nina Dickerhof Tags: Short Communication Source Type: research
Concentrations of dehydroepiandrosterone-sulphate (DHEA-S) in people with cystic fibrosis on and off elexacaftor-tezacaftor-ivacaftor
Cystic fibrosis (CF) is a multi-system disorder caused by defects in the CF trans-membrane conductance regulator. As people with CF (pwCF) lead longer and healthier lives, the impact of steroid hormones on their health has become increasingly important. DHEA-S and its potential implications on the health of adults with CF has not been well-explored. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 22, 2024 Category: Respiratory Medicine Authors: Shadaan Abid, Lauren Shaffer, Andrew Bayat, Minjae Lee, Ashley Keller, Raksha Jain Tags: Short Communication Source Type: research
News article
Persistence and evolution of Pseudomonas aeruginosa following initiation of highly effective modulator therapy in cystic fibrosis. With the widespread availability of elexacaftor/tezacaftor/ivacaftor (ETI) and dramatic improvement in respiratory symptoms, attention is turning to the role of therapies designed to maintain lung health. Some early studies have reported a reduced bacterial burden in the lungs after ETI, though results are easily confounded by the reduction in sputum samples and the impact on chronic P. aeruginosa infection remains unknown. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 16, 2024 Category: Respiratory Medicine Source Type: research
Safety and efficacy of elexacaftor/tezacaftor/ivacaftor in people with Cystic Fibrosis following liver transplantation: A systematic review
Cystic fibrosis (CF) is a multisystem disease caused by variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and resulting in deficient or dysfunctional CFTR protein [1]. F508del is the most prevalent disease-causing variant in people with CF (pwCF), occurring in 80 –85 % of cases [2,3]. The prognosis has largely been determined by the pulmonary complications of the disease. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 13, 2024 Category: Respiratory Medicine Authors: Ilaria Testa, Giuseppe Indolfi, Rossa Brugha, Henkjan J Verkade, Vito Terlizzi Tags: Review Source Type: research
The evolving focus of cystic fibrosis microbiome research
For more than two decades, culture-independent microbiome analysis has been employed in efforts to improve clinical outcomes for those with CF and to gain a better fundamental understanding of polymicrobial infections. The use of these techniques began during the 1990s [1,2], in response, at least in part, to growing concerns over the emergence of new infectious syndromes. Pathogens such as Burkholderia cepacia [3] and rapidly growing nontuberculous mycobacteria [4] were increasingly associated with sudden and profound deterioration in lung function in persons with CF (PwCF) and the potential for other “novel” species ...
Source: Journal of Cystic Fibrosis - April 10, 2024 Category: Respiratory Medicine Authors: Steven L. Taylor, Geraint B. Rogers Source Type: research
Chronic rhinosinusitis in people with CF, a rapidly changing field
Chronic rhinosinusitis (CRS) has been for long addressed as a hallmark of cystic fibrosis (CF). It has been reported to affect the majority of people with CF (pwCF), with almost 100 % of patients revealing pathologic findings in CT scans, which are currently replaced by MRI scans to reduce exposure to ionising radiation and to enhance differentiation of soft tissue structures [1,2]. The burden of sinonasal symptoms markedly impairs a patient ´s well-being, and indeed, to a greater extent than “some rhinitis” is generally expected to bother general health. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 10, 2024 Category: Respiratory Medicine Authors: Jochen G. Mainz, Franziska Duckstein, Carlos Zagoya, Assen Koitschev Source Type: research
Azithromycin reduces bronchial wall thickening in infants with cystic fibrosis
The efficacy of azithromycin as an anti-inflammatory agent in infants with CF was investigated in the COMBAT-CF study [1]. Children with CF diagnosed by newborn screening were 1:1 randomly assigned to maintenance treatment with azithromycin or placebo from diagnosis until age of three, stratified by site. The primary outcome measure was structural airway disease as assessed on chest computed tomography scans (CTs) by the manual Perth-Rotterdam Annotated Grid Morphometric for CF (PRAGMA-CF) scoring method [2]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 6, 2024 Category: Respiratory Medicine Authors: Yuxin Chen, Jean-Paul Charbonnier, Eleni-Rosalina Andrinopoulou, Peter D. Sly, Stephen M. Stick, Harm A.W.M. Tiddens, COMBAT-CF Study Group Source Type: research
Sexual & reproductive health in CF – A shared responsibility
Sexual and reproductive health (SRH) in cystic fibrosis (CF) is an expansive field that has recently gained more attention with the improved fertility and longevity of our CF population in the era of CFTR modulator therapy. People with cystic fibrosis (pwCF) – both men and women - have identified this field as a priority area of interest for clinicians to focus research and educational efforts [1]. SRH in CF is a broad topic encompassing not just fertility and sexuality, but also health outcomes associated with SRH events such as pregnancy/parenthood, and health services delivery of SRH needs in the unique context of spe...
Source: Journal of Cystic Fibrosis - April 5, 2024 Category: Respiratory Medicine Authors: Bethany Collins, Aaron Trimble Source Type: research
Elexacaftor/Tezacaftor/Ivacaftor use in Pediatric Cystic Fibrosis Patients with Advanced Liver Disease
Cystic fibrosis (CF) is an autosomal recessive genetic disease that affects about 30,000 individuals in the United States [1,2]. Advances in the treatment of CF, including cystic fibrosis transmembrane conductance regulator (CFTR) modulators, have increased the life expectancy, lung function, and nutritional status in people with CF (pwCF). With increased longevity, extrapulmonary manifestations, such as CF-related liver disease (CFLD), have become increasingly relevant in the management and care of pwCF [3]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 4, 2024 Category: Respiratory Medicine Authors: Hannah E Protich, Jean P Molleston, Molly Bozic, Rebecca S Pettit Tags: Original Article Source Type: research
Safety and efficacy of ivacaftor in infants aged 1 to less than 4 months with cystic fibrosis
Cystic fibrosis (CF) transmembrane conductance regulator (CFTR) modulators are small-molecule therapeutics that target the underlying cause of CF. Ivacaftor, a CFTR potentiator, improves CFTR function by increasing channel gating activity at the cell surface [1,2]. In clinical trials and real-world studies, ivacaftor has been shown to be safe and efficacious in children as young as 4 months of age with CFTR gating pathogenic variants, with early and sustained improvements in lung function, CFTR function, and respiratory symptoms [3 –6]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 4, 2024 Category: Respiratory Medicine Authors: Paul McNally, Alvin Singh, Susanna A. McColley, Jane C. Davies, Mark Higgins, Meng Liu, Jennifer Lu, Violeta Rodriguez-Romero, Judy L. Shih, Margaret Rosenfeld, VX15-770-124 Study Group Tags: Original Article Source Type: research
The impact of switching to race-neutral reference equations on FEV1 percent predicted among people with cystic fibrosis,
Racial and ethnic disparities in health, shaped by implicit and overt racism, are pervasive and substantial. Societal structures such as health care, economic and legal systems, education and housing profoundly impact health [1 –3]. Experiences of racism, both direct and vicarious, also contribute to poorer health outcomes among minoritized individuals [4]. With the growing emphasis on improving health equity over the past two decades has come increased attention to the racist origins and racial biases in a range of clin ical tests [5], including spirometry [6], glomerular filtration rate [7] and pulse oximetry [8]. (Sou...
Source: Journal of Cystic Fibrosis - March 30, 2024 Category: Respiratory Medicine Authors: Margaret Rosenfeld, Elizabeth A. Cromwell, Michael S. Schechter, Clement Ren, Patrick A. Flume, Rhonda D. Szczesniak, Wayne J. Morgan, Raksha Jain Tags: Original Article Source Type: research
