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Rare dual MYH9-ROS1 fusion variants in a patient with lung adenocarcinoma: A case report.
Medicine (Baltimore)
January 2025
Department of Respiratory and Critical Care Medicine, Zhongshan City People's Hospital, Zhongshan, Guangdong Province, China.
Rationale: ROS proto-oncogene 1 (ROS1) fusion is a rare but important driver mutation in non-small cell lung cancer, which usually shows significant sensitivity to small molecule tyrosine kinase inhibitors. With the widespread application of next-generation sequencing (NGS), more fusions and co-mutations of ROS1 have been discovered. Non-muscle myosin heavy chain 9 (MYH9) is a rare fusion partner of ROS1 gene as reported.
View Article and Find Full Text PDFHypophosphatemic Rickets as a Key Sign for the Diagnosis of Hereditary Tyrosinemia Type 1: Case Reports and Narrative Review of the Literature.
Rev Med Chil
September 2024
Hospital de Niños Dr. Roberto del Río, Santiago, Chile.
Hereditary tyrosinemia type 1 (HT-1) is an inborn error of metabolism caused by a defect in tyrosine (tyr) degradation. This defect results in the accumulation of succinylacetone (SA), causing liver failure with a high risk of hepatocarcinoma and kidney injury, leading in turn to Fanconi syndrome with urine loss of phosphate and secondary hypophosphatemic rickets (HR). HT-1 diagnosis is usually made in infants with acute or chronic liver failure or by neonatal screening programs.
View Article and Find Full Text PDFMassive Central Pulmonary Embolism with Riding Embolus and Concomitant Aortic Arch Embolism-Should We Diagnose Patients Earlier for Blood Clotting Disorders? Case Report.
J Cardiovasc Dev Dis
January 2025
Emergency Department, Leszek Giec Upper-Silesian Medical Centre of the Medical University of Silesia in Katowice, 40-635 Katowice, Poland.
Paradoxical embolism occurs when a clot originates in the venous system and traverses through a pulmonary or intracardiac shunt into the systemic circulation, with a mortality rate of around 18%. The risk factors for arterial embolism and venous thrombosis are similar, but different disease entities can lead to a hypercoagulable state of the blood, including antithrombin III (AT III) deficiency. We report the case of a 43-year-old man with a massive central pulmonary embolism with a rider embolus and concomitant aortic arch embolism with involvement of the brachiocephalic trunk, bilateral subclavian and axillary arteries, and the right vertebral artery, followed by a secondary ischaemic stroke.
View Article and Find Full Text PDFRectus Abdominis Muscle Endometriosis: A Unique Case Report with a Literature Review.
Curr Issues Mol Biol
January 2025
Department of Diagnostic and Interventional Radiology, Clinical Hospital Centre Rijeka, Krešimirova 42, 51000 Rijeka, Croatia.
Introduction and importance: Extrapelvic endometriosis, confined exclusively to the body of the rectus abdominis muscle, is a rare form of abdominal wall endometriosis. While its etiopathology remains unclear, it is often diagnosed in healthy women who present with atypical symptoms and localization unrelated to any incision site, or in the absence of a history of endometriosis or previous surgery. Presentation of the case: Here, we describe a unique case of intramuscular endometriosis of the rectus abdominis muscle in a healthy 39-year-old Caucasian woman.
View Article and Find Full Text PDFA Digital Approach for a Complete Rehabilitation with Fixed and Removable Prostheses: A Technical Procedure.
Dent J (Basel)
December 2024
Department of Prosthodontics, University of Rennes, 35043 Rennes, France.
The present article describes a step-by-step maximally digitalized workflow protocol with computer-aided design and computer-aided manufacturing (CAD/CAM) in partial-arch edentulous patients rehabilitated with fixed dental prostheses and removable partial dentures (FDPs and RPDs). Facial digitalization, intraoral scans, and functional mandibular movement recordings were used to create a 4D virtual patient on commercially available CAD software. The fixed components including post-and-cores, both metal-ceramic with extra-coronal attachment and monolithic zirconia crowns, and the RPDs were manufactured by computer numerical controlled direct milling.
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