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Exploring the Differential Diagnosis of Adrenal Adenoma in the Context of Situs Ambiguous: A Clinical Case Study.
Medicina (Kaunas)
December 2024
Medical College, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria.
Situs anomalies, including situs inversus and situs ambiguous (SAMB), are rare congenital conditions typically noted in pediatric populations, with SAMB being particularly uncommon in adults. This case study addresses the incidental discovery of situs ambiguous with polysplenia in a 65-year-old man evaluated for suspected adrenal adenoma. The patient's medical history included benign prostatic hyperplasia and tuberculous pleurisy.
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.
Finding of situs inversus in endoscopic sleeve gastroplasty: Case report.
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.
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.
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