Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia

To evaluate whether cystic fibrosis transmembrane conductance regulator (CFTR) variants are more common among individuals tested for primary ciliary dyskinesia (PCD) compared with controls.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Original Article Source Type: research

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Doušová T, Pohunek P Abstract BACKGROUND: Bronchial epithelial reticular basement membrane (RBM) thickening occurs in diseases with both eosinophilic [allergic bronchial asthma (AB)] and neutrophilic [cystic fibrosis (CF), primary ciliary dyskinesia (PCD)] chronic airway inflammation; however, lung function and airway remodelling relationship remains unclear. The aim of the study was to test whether ventilation inhomogeneity is related to RBM thickening. METHODS: Multiple breath washout test, endobronchial biopsy, and bronchoalveolar lavage were performed in 24 children with CF, 11 with PCD, 15...
Source: Chest - Category: Respiratory Medicine Authors: Tags: Chest Source Type: research
In this study, we aim to evaluate NIOX-MINOÒ, which is an easily applicable method for measuring nNO, in the diagnosis of patients with PCD and define diagnostic cut-off levels. Furthermore, determining the normal limits of nNO in healthy children and investigating nNO levels of children with cystic fibrosis (CF) are the other aims of this study. The children included in this study were 5 to 18.5 years old, 46 of them had PCD, 44 had CF and 200 were healthy children. To our knowledge, this work contains the widest population compared to previous studies. Subjects receiving steroids or antibiotics or those with any a...
Source: The Turkish Journal of Pediatrics - Category: Pediatrics Authors: Tags: Turk J Pediatr Source Type: research
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: E-Poster Sessions Source Type: research
The objective of the study was to develop a method to visualize and quantify MCC in pulmonary pathophysiology using PET imaging. Pre-clinical imaging was performed using a porcine model. Methods: [18F]-fluoride labeled alumina nanoparticles were obtained by adding aqueous [18F]-fluoride to -alumina nanoparticles (
Source: Journal of Nuclear Medicine - Category: Nuclear Medicine Authors: Tags: Outcomes/Infectious Disease/Pulmonary II Source Type: research
Conclusion: The current study revealed that positive screening for developmental delay is more common in preschool-aged PCD patients compared to patients with CF and healthy children.What is Known:•Intelligence scores of school-aged PCD patients are similar to healthy subjects despite their higher internalizing problem scores on Child Behavior Checklist (CBCL).•School-aged PCD patients exhibit higher hyperactivity and inattention findings.What is New:•Positive screening for developmental delay in communication, problem-solving and fine motor skills is more common in preschool-aged PCD patients.•Preschoo...
Source: European Journal of Pediatrics - Category: Pediatrics Source Type: research
Conclusion and Perspectives Since their cloning 20 years ago, the physiological importance of TREK-1 channels has continued to grow (Figure 3). Today, TREK-1 channels have been shown to be important and their presence is essential in a number of physiopathological processes. Their involvement in these different processes demonstrate the necessity to design pharmacological modulators, activators or inhibitors, of these channels to correct any TREK-1-related dysfunctions. Despites a number of studies and many molecule screenings, only few putative new drugs were identified. The activators belonging to the ML and BL series ...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
Cystic fibrosis (CF) and primary ciliary dyskinesia (PCD) are characterized by impaired mucociliary clearance causing sinopulmonary infections and airway inflammation. However, they differ in many aspects including multisystemic involvement and disease severity.
Source: Respiratory Medicine - Category: Respiratory Medicine Authors: Source Type: research
Abstract Mucin-secreting goblet cell metaplasia and hyperplasia (GCMH) is a common pathological phenotype in many human respiratory diseases including asthma, chronic obstructive pulmonary disease, cystic fibrosis, primary ciliary dyskinesia, and infections. A better understanding of how goblet cell quantities or proportions in the airway epithelium are regulated may provide novel therapeutic targets to mitigate GCMH in these devastating diseases. We identify canonical SMAD signaling as the principle pathway restricting goblet cell differentiation in human airway epithelium. Differentiated goblet cells express low...
Source: Am J Respir Cell Mol... - Category: Respiratory Medicine Authors: Tags: Am J Respir Cell Mol Biol Source Type: research
Conclusion: In our data, post TB bronchiectasis remained the most common cause of non-CF bronchiectasis, Pseudomonas is the most common pathogen, obstructive pattern of spirometry is found in majority and hemoptysis is the most frequent complication.
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Respiratory infections Source Type: research
Conclusion: Symptoms of depression and anxiety were prevalent in PCD and CF both in patients and parents. Symptoms were more severe and common in mothers. PCD patients shown less depression symptoms and higher anxiety symptoms compared to CF patients. PCD parents shown more depression symptoms than CF parents.
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Cystic fibrosis Source Type: research
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