We herein report a 76-year-old woman with situs inversus and dextrocardia who underwent pacemaker implantation for sick sinus syndrome. Situs inversus with dextrocardia, which is frequently associated with cardiovascular malformation, is a rare congenital malformation wherein the thoracic and abdominal viscera are inverted compared with their normal positions. This renders the implantation of cardiac devices an arduous task. We therefore decided to gather preoperative anatomical information on patients with situs inversus and dextrocardia. We used three-dimensional computed tomography to collect preoperative information in order to facilitate the safe implantation of cardiac devices.
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http://dx.doi.org/10.2169/internalmedicine.2558-23 | DOI Listing |
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.
Int J Surg Case Rep
December 2024
IFSO, USA; Fundación Santa Fe de Bogotá, Colombia.
Introduction And Importance: Situs inversus is an anatomical rare condition in which visceral organs are not located in its normal position, with a reversal anatomical orientation.
Case Presentation: We present a case of an 27-year-old male with a Body Mass Index (BMI) of 36.02 Kg/m2, who was programed for a Endoscopic Sleeve Gastroplasty (ESG), in which Situs inversus was documented.
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 PDFCureus
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 PDFEur 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).
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