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Incidental 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 PDFInterpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3.
Mol Genet Genomic Med
January 2025
The State Key Laboratory for Complex Severe and Rare Diseases, the State Key Sci-Tech Infrastructure for Translational Medicine, Peking Union Medical College Hospital, Beijing, China.
Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.
Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.
Unveiling the potential of lung transplantation for situs inversus.
Expert Rev Respir Med
December 2024
Division of Thoracic Surgery, Department of Surgery, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Introduction: Situs inversus is a rare congenital condition where the organs in the chest and abdomen are reversed, thus complicating surgeries such as lung transplantation. Kartagener syndrome (KS), associated with situs inversus, includes chronic sinusitis and bronchiectasis, which can progress to end-stage lung disease requiring transplantation. This review discusses the unique surgical considerations, technical challenges, and outcomes of lung transplantation in patients with situs inversus, particularly KS.
View Article and Find Full Text PDFPrimary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview.
Basic Clin Androl
December 2024
RECETOX, Faculty of Science, Masaryk University, Brno, Czech Republic.
Background: Primary ciliary dyskinesia (PCD) is a heterogenous disease caused by mutations of miscellaneous genes which physiologically play an important role in proper structure and/or function of various cellular cilia including sperm flagella. Besides male infertility, the typical phenotypes, based on decreased mucociliary clearance, are lifelong respiratory issues, i.e.
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