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Interpreting 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.
View Article and Find Full Text PDFAesthetic Surgery in a Patient With Situs Inversus: A Rare Case Report About the Practical Concerns.
Plast Reconstr Surg Glob Open
December 2024
From the Department of Plastic Surgery and Burns, King Saud Medical City, Riyadh, Saudi Arabia.
Aesthetic surgery has gained substantial popularity over the last decade due to enormous projections in the media. These procedures have not only attracted Westerners but also the Middle Eastern and Saudi populations. Situs inversus is an extremely rare congenital anomaly with an incidence of 1 in 10,000 live births.
View Article and Find Full Text PDFEosinophilic Pneumonia Triggered by in a Patient with Primary Ciliary Dyskinesia: A Clinical Case Report.
Medicina (Kaunas)
November 2024
Department of Nucleic Acid Biochemistry, Medical University of Lodz, 92-213 Lodz, Poland.
Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the structure and function of cilia, primarily impacting the respiratory system. Kartagener syndrome, a subset of PCD, is characterized by situs inversus, bronchiectasis, and chronic sinusitis. Patients with PCD are prone to recurrent respiratory infections due to impaired ciliary function, which hinders effective mucus clearance and promotes pathogen colonization.
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