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Similar Publications

The biliary system exhibits significant anatomical variations, which pose challenges for most surgeons during cholecystectomy. Among these variations, a true left-sided gallbladder (LSG) is an uncommon finding. In such cases, the gallbladder is located to the left of the round ligament.

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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.

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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.

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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.

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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.

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