Modelling the spread of cystic fibrosis in Brittany using genealogical data over five centuries
Brittany is a peninsula bordered by 2730 km of coastline at the extreme west of France. The prevalence of cystic fibrosis (CF), the most widespread hereditary disease, is particularly high. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - November 18, 2023 Category: Respiratory Medicine Authors: Nadine Pellen, Jean-Yves Le Reste, Jean Argouarc'h Tags: Original Article Source Type: research
Factors associated with pubertal growth outcomes in cystic fibrosis
Cystic fibrosis (CF) is a multisystem genetic condition with considerable impacts on growth. Historically, people with CF experienced 2 –4-year pubertal delays theorized to be a manifestation of poor nutrition. [1–13] In the general population, both over- and under-nutrition impact pubertal timing. Nutritional deprivation can slow growth and cause pubertal delay. [14] Interestingly, there is also evidence that malnutrition in th e fetal and neonatal periods is associated with accelerated pubertal onset. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - November 17, 2023 Category: Respiratory Medicine Authors: Rashmi Patil, Amalia S. Magaret, Raksha Jain, Jennifer Taylor-Cousar, Kara S. Hughan, Traci M. Kazmerski Tags: Original Article Source Type: research
Olfactory loss in people with cystic fibrosis: Community perceptions and impact
Olfaction is a critical sense that augments interpersonal communication, impacts nutritional status, and enables avoidance of certain dangers [1]. Olfactory dysfunction (OD) is common in people with cystic fibrosis (PwCF) and has significant adverse effects. Existing studies demonstrate that OD is present in the majority of adults with CF, with rates of olfactory impairment exceeding 90% in certain reports [2 –4]. OD is associated with increased rates of depression and loneliness, negatively impacts quality-of-life (QOL), and is associated with a greater risk of mortality in the general population [1,5,6]. (Source: Journ...
Source: Journal of Cystic Fibrosis - November 17, 2023 Category: Respiratory Medicine Authors: Jessa E. Miller, Christine M. Liu, Edith T. Zemanick, Jason C. Woods, Christopher H. Goss, Jennifer L. Taylor-Cousar, Daniel M. Beswick Tags: Short Communication Source Type: research
The new face of cystic fibrosis in the era of population genetic carrier screening
Cystic fibrosis (CF) is the most common life shortening genetic disease among Caucasians. The CF birth rate was previously reported as 1:3500 in Europe[1], but the incidence is variable[2]. CF is an autosomal recessive disease displaying allelic heterogeneity in the CF transmembrane conductance regulator (CFTR) gene. CFTR pathogenic variants are divided into two main groups – minimal function and residual function. Minimal function variants, associated with pancreatic insufficiency are found in most people with CF. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - November 16, 2023 Category: Respiratory Medicine Authors: Miri Dotan, Hannah Blau, Amihood Singer, Patrick Stafler, Dario Prais, Malena Cohen-Cymberknoh, Joel Reiter, Ori Efrati, Adi Dagan, Lea Bentur, Michal Gur, Galit Livnat, Karin Yaacoby-Bianu, Micha Aviram, Inbal Golan Tripto, Ophir Bar-On, Reut Matar, Shan Tags: Original Article Source Type: research
News article
This report details the development of an assay to detect nucleic acids from decomposing cells – so called cell-free DNA (cfDNA) – in patient blood specimens usin g next-generation DNA sequencing. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - November 15, 2023 Category: Respiratory Medicine Authors: Susan Madge Source Type: research
Restless legs syndrome is prevalent in adults with cystic fibrosis and impacts sleep quality
Restless legs syndrome (RLS) is a sensorimotor disorder that can cause significant morbidity. It is a clinical diagnosis characterized by essential criteria as outlined by the International Restless Legs Syndrome Study Group (IRLSSG) [1]. These criteria include: an urge to move legs or other body parts; the urge begins or worsens during rest or inactivity; relief by movement; occurs primarily or is worse in the evening, showing a strong circadian pattern; and the symptoms are not explained by other medical or behavioral conditions. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - November 15, 2023 Category: Respiratory Medicine Authors: Sabin R. Bista, Tahuanty Pena, Makayla E. Schissel, Lynette M Smith, Peter J. Murphy, John D. Dickinson Tags: Original Article Source Type: research
Nasal airway inflammatory responses and pathogen detection in infants with cystic fibrosis
Measuring airway inflammation in infants with cystic fibrosis (CF) is difficult, especially in a non-invasive manner. Currently available clinical assays of inflammation are limited by access, volume (blood), and invasiveness (bronchoalveolar lavage). However, accurate inflammatory assessments are important as early inflammatory changes in infants with CF are linked to structural lung damage and are associated with long-term outcomes [1 –3]. Furthermore, current recommendations for the management of infants with CF do not include anti-inflammatories or even mandate mucolytic therapies [4], in part due to a lack of accura...
Source: Journal of Cystic Fibrosis - November 15, 2023 Category: Respiratory Medicine Authors: Benjamin T. Kopp, Sydney E. Ross, Dinesh Bojja, Lokesh Guglani, Joshua D. Chandler, Rabindra Tirouvanziam, Misty Thompson, James E. Slaven, James F. Chmiel, Christopher Siracusa, Don B. Sanders Tags: Original Article Source Type: research
A provider survey assessing fetal impact of CFTR modulator use in males with CF during assisted and unassisted reproduction and partner pregnancy
In 1968, Kaplan and colleagues concluded from their case series that the majority of males with cystic fibrosis (mwCF) are infertile as a result of congenital bilateral absence of the vas deferens. They noted that while the testes in mwCF were often normal in volume, histological examination revealed decreased spermatogenesis and abnormal sperm mophology.1 Subsequent work has demonstrated that approximately 98 % of males with CF are infertile, dependent on their CFTR variants.2 Nonetheless, through use of assisted reproductive technologies (ART), including surgical sperm retrieval, intracytoplasmic sperm injection, and e...
Source: Journal of Cystic Fibrosis - November 11, 2023 Category: Respiratory Medicine Authors: Jennifer L. Taylor-Cousar, Rachel Janney, Peter G. Middleton, Raksha Jain, Julia Nightingale, Natalie E. West, Michal Shteinberg, Danielle Velez, Traci M. Kazmerski Tags: Short Communication Source Type: research
The relationship between the intestinal microbiome and body mass index in children with cystic fibrosis
Cystic fibrosis (CF) is a life-limiting disease caused by defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that controls the movement of chloride across epithelial cell membranes and results in thick mucus accumulation [1]. Although historically considered a pulmonary disease, gastrointestinal conditions cause significant morbidity in children with CF [2]. Many also have growth and nutritional failure often measured by low body mass index percentile (BMIp), despite therapy with pancreatic enzymes, vitamin replacement, and increased calorie intake [3]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - November 11, 2023 Category: Respiratory Medicine Authors: Rachel Bernard, Meghan H. Shilts, Britton A. Strickland, Helen H. Boone, Daniel C. Payne, Rebekah F. Brown, Kathryn Edwards, Suman R. Das, Maribeth R. Nicholson Tags: Original Article Source Type: research
Association of Pseudomonas aeruginosa incident infections with adherence to cystic fibrosis foundation care guidelines
Infections with Pseudomonas aeruginosa (Pa) are associated with worse outcomes in people with cystic fibrosis (pwCF). Transmission of bacteria within CF care centers has been reported in many countries including the United States [1]. Such observations prompted revised CF-specific infection prevention and control (IP&C) guidelines in 2013 [2]. To decrease the risk of pathogen transmission in CF care environments, including CF patient-to-CF patient, the guidelines recommended several measures including maintenance of at least 6 feet distance between pwCF, mask use by all pwCF when in any healthcare settings, use of gowns an...
Source: Journal of Cystic Fibrosis - November 10, 2023 Category: Respiratory Medicine Authors: Kushal S. Shah, Lisa Saiman, John J. LiPuma, Michael R. Kosorok, Marianne S. Muhlebach Tags: Original Article Source Type: research
Clinician perspectives and practices related to sexual and reproductive care provision for males with cystic fibrosis
Approximately 98 % of males with cystic fibrosis (MwCF) are infertile, primarily due to congenital bilateral absence of the vas deferens (CBAVD) [1,2]. Additionally, studies performed prior to widespread use of highly effective CF transmembrane conductance regulator (CFTR) modulator therapies (HEMT) have found tha t hypogonadism or testosterone deficiency occurs among as many as 28–45 % of MwCF. Untreated hypogonadism can lead to pubertal delay, decreased muscle mass and bone density, fatigue, decreased libido, sexual dysfunction, and depression [3,4]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - November 10, 2023 Category: Respiratory Medicine Authors: Traci M. Kazmerski, Olivia M. Stransky, Danielle R. Lavage, Kara S. Hughan, Raksha Jain, Sigrid L. Ladores, Michael S. Stalvey, Vin Tangpricha, Jennifer L. Taylor-Cousar, Natalie E. West, Gregory S. Sawicki Tags: Original Article Source Type: research
Palliative care needs among outpatient adults with cystic fibrosis: Baseline data from the Improving Life with CF trial
Cystic fibrosis (CF) is a chronic, progressive disease that affects an estimated 105,000 children and adults worldwide [1]. In the U.S., the clinical outcomes associated with CF have improved during the past three decades, due both to the development of specialty practices (CF centers) that coordinate medical, psychosocial, rehabilitative, and nutritional interventions, [2] and the advent of CF transmembrane conductance regulator (CFTR) modulator therapies. These improvements, however, have not eliminated the adverse effects of CF on prognosis and quality of life. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - November 9, 2023 Category: Respiratory Medicine Authors: Stephanie DiFiglia, Anna M. Georgiopoulos, Russell Portenoy, Elizabeth Seng, Maria Berdella, Deborah Friedman, Catherine Kier, Rachel W. Linnemann, Brandi Middour-Oxler, Patricia Walker, Janice Wang, Lael M. Yonker, Brian Buehler, Nivedita Chaudhary, Chri Tags: Original Article Source Type: research
Influence of highly effective modulator therapy on the sputum proteome in cystic fibrosis
Cystic fibrosis (CF) is an inherited, multi-system disease caused by dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, a ubiquitous ion channel important for epithelial hydration [1]. A direct consequence of this dysfunction is impaired mucociliary clearance, chronic airway infection and a persistent neutrophilic inflammatory response that results in progressive loss of lung function, development of respiratory failure and premature death [2]. Partial restoration of CFTR function is now possible for most people with CF (PwCF) through mutation specific CFTR modulators. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - November 9, 2023 Category: Respiratory Medicine Authors: Rosemary E Maher, Peter J Barry, Edward Emmott, Andrew M Jones, Lijing Lin, Paul S McNamara, Jaclyn A Smith, Robert W Lord Tags: Original Article Source Type: research
A birth cohort approach to understanding cystic fibrosis lung infections
A highly cited graph from the Cystic Fibrosis Foundation (CFF) Registry Annual Data Report depicts cross-sectional prevalence of cystic fibrosis (CF) pathogens at different ages [1]. The Annual Microbial Prevalence vs Age graph divides people with CF (pwCF) into age categories on the x-axis and the y-axis reports prevalence of CF pathogens during the preceding year (Fig. 1). For each pathogen, lines connect data points from adjacent age groups. Other national registries, including the U.K., Germany, Canada, and Australia, publish similar graphs [2–5]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - November 8, 2023 Category: Respiratory Medicine Authors: Anthony J. Fischer, Paul J. Planet Source Type: research
Identification of prognostic biomarkers for antibiotic associated nephrotoxicity in cystic fibrosis
Life expectancy in cystic fibrosis (CF) is near 50 years, thanks to novel therapies and improved diagnostics [1]. This remarkable progress is attenuated by an increasing prevalence of comorbidities. In CF, the prevalence of chronic kidney disease (CKD) is 2.3 %, double that of the general population when adjusted for age, and prevalence doubles with every 10-year increase in age [2]. One major risk factor for CKD is repeated administration of nephrotoxic antibiotics, such as aminoglycosides and polymyxin E (colistin), to treat pulmonary exacerbations. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - November 8, 2023 Category: Respiratory Medicine Authors: Andrew Hart, Francine Cesar, Leila R Zelnick, Nick O'Connor, Zoie Bailey, Jordan Lo, Kirk Van Ness, Ian B. Stanaway, Theo K. Bammler, James W. MacDonald, Matthew R. Thau, Jonathan Himmelfarb, Christopher H. Goss, Moira Aitken, Edward J. Kelly, Pavan K. Bh Tags: Original Article Source Type: research
