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Sequential 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 PDFRegulation of INPP5E in Ciliogenesis, Development, and Disease.
Int J Biol Sci
January 2025
Department of Basic & Translational Sciences, School of Dental Medicine, University of Pennsylvania, USA.
Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and phagocytosis. Mutations in cause Joubert and Meckel-Gruber syndromes in humans; these are characterized by brain malformations, microphthalmia, situs inversus, skeletal abnormalities, and polydactyly. Recent studies have demonstrated the key role of INPP5E in governing intracellular processes like endocytosis, exocytosis, vesicular trafficking, and membrane dynamics.
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.
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