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High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Hum Genomics
January 2025
Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.
Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.
Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).
Programmable Valve With Virtual off Function Is Useful for Chronic Subdural Hematoma After Ventriculoperitoneal Shunt Surgery.
Cureus
December 2024
Neurosurgery, St. Marianna University School of Medicine, Kawasaki, JPN.
Over-drainage after a ventriculoperitoneal (VP) shunt can often lead to chronic subdural hematoma; however, the treatment is unclear. Hematoma drainage is performed after physically stopping the shunt function, such as by ligating or removing the shunt system. However, shunt reconstruction is required after the subdural hematoma improves.
View Article and Find Full Text PDFPreservation of the azygos vein versus ligation of the azygos vein during primary surgical repair of congenital esophageal atresia.
Cochrane Database Syst Rev
January 2025
Neonatal Intensive Care Unit, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
Background: Esophageal atresia is one of the most common life-threatening congenital malformations and is defined as an interruption in the continuity of the esophagus with or without fistula to the trachea or bronchi. Definitive treatment is surgical ligation of the fistula if present and esophageal end-to-end anastomosis of the two pouches, thereby reconstructing the continuity of the esophagus. During this procedure, the surgeon may choose to either ligate or preserve the azygos vein, a major draining vein for the esophagus and surrounding structures, but no definitive consensus on the matter exists.
View Article and Find Full Text PDFManagement of Anomalous Left Vertebral Artery During Open Total Arch Replacement.
Ann Thorac Surg Short Rep
December 2024
Division of Cardiac Surgery, Department of Surgery, Northwestern University Feinberg School Medicine, Chicago, Illinois.
Background: An anomalous left vertebral artery (aLVA) can complicate aortic arch surgery. We examined the safety of various aLVA revascularization strategies during open total arch replacement.
Methods: We retrospectively evaluated 92 patients undergoing total arch replacement from January 2018 to May 2023 and identified 11 patients with aLVA.
Repairing Bilateral Coronary-Pulmonary Artery Fistulas During Coronary Artery Bypass Grafting.
Ann Thorac Surg Short Rep
September 2024
Department of Cardiovascular Surgery, Corewell East William Beaumont University Hospital, Royal Oak, Michigan.
Coronary-pulmonary artery fistulas (CPAFs) are rare entities that can cause significant left-to-right shunting and complicate routine coronary artery bypass grafting. There are no best practice guidelines and a scarcity of reports regarding concomitant treatment of CPAF with coronary artery disease. We present a case of bilateral CPAFs in a 60-year-old man with symptomatic coronary artery disease treated successfully with coronary artery bypass, epicardial ligation, and transpulmonary closure of CPAF with patch reconstruction.
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