Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Undocking of an extensive ciliary network induces proteostasis and cell fate switching resulting in severe primary ciliary dyskinesia.
Sci Transl Med
January 2025
Department of Cell Biology and Physiology, Washington University School of Medicine, Saint Louis, MO 63110, USA.
Article Synopsis
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder linked to chronic respiratory issues, infertility, and problems with body asymmetry, primarily caused by mutations in the CCDC39 and CCDC40 genes.
- Researchers used advanced techniques to investigate how these genetic variants impact cellular functions beyond just causing cilia to stop moving.
- They discovered that the absence of CCDC39/CCDC40 creates a significant loss of over 90 ciliary structural proteins, leading to cilia dysfunction and other cellular issues, suggesting that gene therapy could potentially offer a new treatment strategy for PCD.
Chronic Cough, Dyspnea, and a Novel CCDC39 Variant: A Case Report of Heterotaxy Syndrome Without Cardiac Anomalies and Associated Primary Ciliary Dyskinesia.
Cureus
December 2024
Pulmonology, Algemeen Ziekenhuis Glorieux, Ronse, BEL.
Heterotaxy syndrome is characterized by abnormal left-right arrangement of thoracoabdominal organs and is frequently associated with complex cardiac anomalies. However, cases with predominant extracardiac manifestations are increasingly recognized. This report describes a 20-year-old female of North African descent with consanguineous parentage, who presented with chronic cough and exertional dyspnea persisting over several years.
View Article and Find Full Text PDFSequential Double-Lung Transplantation In Kartagener Syndrome: A Case Report.
Port J Card Thorac Vasc Surg
October 2024
Thoracic Surgery Department - Hospital de Santa Marta, Centro Hospitalar Universitário Lisboa Central, Portugal.
Kartagener syndrome (KS) is a rare congenital disorder, characterized by sinusitis, bronchiectasis and situs inversus. Lung transplantation is an effective treatment for end-stage lung failure, but dextrocardia and differences between hilar structures and pulmonary lobes require adjustments to conventional surgical technique. We present a case of a double-lung transplant without extracorporeal oxygenation in a 48-year-old male patient with KS.
View Article and Find Full Text PDFIncidental imaging detection of Kartagener syndrome in a female: A case report.
Radiol Case Rep
March 2025
Department of Radiology and Imaging, Grande International Hospital, Kathmandu, Nepal.
Kartagener syndrome is a rare ciliopathic genetic disorder characterized by a triad of chronic sinusitis, situs inversus, and bronchiectasis. The underlying pathophysiology involves reduced ciliary motility due to defects in ciliary structure and function within the respiratory tract and fallopian tubes. Diagnosis is typically confirmed through imaging studies such as X-rays, CT scans, and echocardiograms, which reveal the abnormal orientation of the heart and other organs.
View Article and Find Full Text PDFActive cycle of breathing technique versus oscillating positive expiratory pressure therapy: Effect on lung function in children with primary ciliary dyskinesia; A feasibility study.
Chron Respir Dis
January 2025
Department of Physiotherapy & Rehabilitation, Faculty of Health Professions, Al-Quds University, East Jerusalem, Palestine.
Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder requiring airway clearance techniques for mucus removal. We aimed to evaluate the feasibility and the effect of the active cycle of breathing technique (ACBT) versus oscillating positive expiratory pressure therapy (OPEP) in improving lung function and functional exercise capacity among children with PCD in Palestine. 32 PCD children (6-18 years) were included in a 12-week home-based feasibility study.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!