. Most cases of cystic fibrosis occur in Europe, with only a few occurring in Asia. Pulmonary cystic fibrosis is not a rare disease, but in children it is a potentially life-threatening condition. Children suffering from pulmonary cystic fibrosis rarely survive to adulthood, and responses to treatment are generally poor. The most common cause of cystic fibrosis is a genetic mutation on chromosome 7. A 15-year-old boy with healthy parents suffered from a recurrent cough and expectoration for nearly 10 years. Six years previously, a definitive diagnosis of pulmonary cystic fibrosis and hepatic cirrhosis was made at the Beijing Children's Hospital. The first occurrence of hematemesis occurred 1 year ago. The main symptoms, which caused this period of hospitalization, were cough, expectoration, and hematemesis. The underlying cause was finally determined to be the cystic fibrosis transmembrane conductance regulator gene (p.G970D). After genetic and sweat testing performed at the Beijing Children's Hospital in 2012, a definitive diagnosis of cystic fibrosis was made. The patient was administered hemostatic treatment, antibiotics, and cough relief and sputum reduction therapy. The patient's condition rapidly improved and continued to remain stable, though future relapse is possible following respiratory tract infections. This case indicates that in the case of any child that presents a recurrent cryptogenic cough and expectoration, whether accompanied by hematemesis or not, pulmonary cystic fibrosis should be considered. In order to determine underlying causes and prepare for cystic fibrosis transmembrane conductance regulator modulator therapy, genetic and sweat testing are recommended to be conducted if available.
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http://dx.doi.org/10.1177/2333794X19833725 | DOI Listing |
Biofilm
June 2025
CEB - Centre of Biological Engineering, University of Minho, Campus de Gualtar, 4710-057, Braga, Portugal.
Antibiotics are central to managing airway infections in cystic fibrosis (CF), yet current treatments often fail due to the presence of biofilms, settling down the need for seeking therapies targeting biofilms. This study aimed to investigate the antibiofilm activity of aspartic acid and its potential as an adjuvant to tobramycin against biofilms formed by mucoid and small colony variant (SCV) tobramycin tolerant strain. We assessed the effect of aspartic acid on both surface-attached and suspended biofilms within CF artificial mucus and investigated the synergistic impact of combining it with non-lethal tobramycin concentrations.
View Article and Find Full Text PDFHeliyon
January 2025
Paediatric Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.
Background: Cystic fibrosis is a heterogeneous disease whose severity and symptoms largely depend on the functional impact of mutations in the cystic fibrosis transmembrane conductance regulator gene. Other genes may also modulate the clinical manifestations and complications associated with cystic fibrosis. Genetic variants of the bitter taste receptor TAS2R38 have been shown to contribute to the susceptibility and severity of chronic rhinosinusitis.
View Article and Find Full Text PDFOtolaryngol Head Neck Surg
January 2025
Department of Otolaryngology-Head and Neck Surgery, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Alabama, USA.
Objective: Cystic fibrosis (CF) is a clinical entity defined by aberrant chloride (Cl) ion transport causing downstream effects on mucociliary clearance (MCC) in sinonasal epithelia. Inducible deficiencies in transepithelial Cl transport via CF transmembrane conductance regulator (CFTR) has been theorized to be a driving process in recalcitrant chronic rhinosinusitis (CRS) in patients without CF. We have previously identified that brief exposures to bacterial lipopolysaccharide (LPS) in mammalian cells induces an acquired dysfunction of CFTR in vitro and in vivo.
View Article and Find Full Text PDFJ Cyst Fibros
January 2025
Southern Cross University, Faculty of Health, Coolangatta, Queensland, Australia. Electronic address:
Background: A previous Australia-wide pilot study identified pain as a significant burden in people with CF (pwCF). However, the prevalence, frequency and severity have not been evaluated using validated tools.
Methods: Australian adults, pwCF and healthy controls (HC) were invited to complete an online questionnaire from July 2023 - February 2024, consisting of four validated tools: Brief Pain Inventory, Pain Catastrophising Scale, PAGI-SYM and PAC-SYM.
Microb Pathog
January 2025
Department of Animal Science and Technology, Konkuk University, Seoul 05029, Republic of Korea. Electronic address:
Burkholderia contaminans SK875, a member of Burkholderia cepacia complex (Bcc), are known to cause lung infections in cystic fibrosis patients. To gain deeper insights into its quorum sensing (QS)-mediated pathogenicity, we employed a transposon (Tn) insertion-based random mutagenesis approach. A Tn mutant library comprising of 15,000 transconjugants was generated through conjugation between wild-type (WT) recipient B.
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