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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 PDFA Rare Case of Situs Inversus Partialis With Levocardia in a 73-Year-Old Patient.
Cureus
November 2024
Acute Internal Medicine, Stepping Hill Hospital, Stockport, GBR.
Situs inversus partialis (SIP) is an extremely rare congenital disorder in which most of the visceral organs are located on the opposite side of their usual anatomical locations. The condition is usually associated with levocardia, in which the apex of the heart is directed toward the left side. In our case study, a female patient with a history of dysphagia and weight loss presented to the outpatient clinic under the urgent two-week wait pathway.
View Article and Find Full Text PDFCHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus.
Eur J Med Genet
December 2024
First Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, 650000, China. Electronic address:
The Chromodomain Helicase DNA-binding (CHD) protein family is ATP-dependent chromatin remodeling proteins that utilize energy produced by ATP hydrolysis to regulate chromatin structure and thereby modulate gene expression. The earliest report of a CHD3 gene mutation was by O'Roak, who found it during whole exome sequencing of 189 autism families in 2012. In 2018, Snijders Blok systematically assessed the autosomal dominant neurodevelopmental disorder caused by CHD3 gene damage, known as Snijders Blok-Campeau syndrome (SNIBCPS, OMIM 618205).
View Article and Find Full Text PDFAnalysis of associated malformations by computed tomography in adults with polysplenia syndrome: A pilot study.
PLoS One
December 2024
Department of Medical Imaging, The Affiliated Suzhou Hospital of Nanjing Medical University, Gusu School of Nanjing Medical University, Suzhou, Jiangsu, China.
Objective: To analytically depict the associated malformations of polysplenia syndrome (PS) in adults via computed tomography (CT).
Materials And Methods: The incidence of malformations associated with PS in twelve adult patients was retrospectively analyzed via CT imaging.
Results: The number of splenic nodules ranged from three to twelve; the splenic nodules were located in the left upper quadrant in nine patients and in the right upper quadrant in three patients.
Primary 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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