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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).
Neuroendoscopic surgery versus craniotomy for basal ganglia hemorrhage: a systematic review and meta-analysis of randomized controlled trials.
Neurosurg Rev
January 2025
Department of Neurosurgery, Hospital Heliópolis, São Paulo, Brazil.
Basal ganglia hemorrhage (BGH) is a prevalent site for intracerebral hemorrhage. Although neuroendoscopy (NE) surgery has emerged as a less invasive alternative to craniotomy (CT), the optimal surgical method remains debatable. This systematic review and meta-analysis aimed to compare the efficacy and safety of NE versus CT in the management of BGH.
View Article and Find Full Text PDFComparison of Cumulative Live Birth Rates Between Progestin and GnRH Analogues in Preimplantation Genetic Testing Cycles.
J Clin Endocrinol Metab
January 2025
Center for Reproductive Medicine, Guangdong Women and Children Hospital, Guangzhou 511400, Guangdong Province, China.
Context: Progestins have recently been used as an alternative for gonadotropin-releasing hormone (GnRH) analogues to prevent premature luteinizing hormone surge due to the application of vitrification technology. However, the long-term efficacy and safety of a progestin-primed ovarian stimulation (PPOS) regimen, including oocyte competence, cumulative live birth rate (LBR), and offspring outcomes, remain to be investigated.
Objective: To compare cumulative LBR of preimplantation genetic testing (PGT) cycles between a PPOS regimen and GnRH analogues.
Efficacy and safety of several common drugs in the treatment of acute respiratory distress syndrome: A systematic review and network meta-analysis.
Medicine (Baltimore)
November 2024
Intensive Care Unit, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, Shandong, China.
Background: This study aimed to compare the effectiveness and safety of neuromuscular blockers, mesenchymal stem cells (MSC), and inhaled pulmonary vasodilators (IV) for acute respiratory distress syndrome through a network meta-analysis of randomized controlled trials (RCTs).
Methods: We searched Chinese and English databases, including China National Knowledge Infrastructure, The Cochrane Library, PubMed, and EMbase, with no time restrictions. We conducted a network meta-analysis and reported the results according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses.
Comparison of clinical outcomes between Castor single-branched stent graft and in situ fenestration in treating Stanford type B aortic dissection involving the left subclavian artery: A retrospective case-control study.
Medicine (Baltimore)
November 2024
Department of Vascular Surgery, the Second Affiliated Hospital, Jiangxi Medical College, Nanchang University.
Stanford type B aortic dissection involving the left subclavian artery (LSA) poses significant clinical challenges. The Castor single-branch stent graft and in situ fenestration are commonly used techniques, but the better endovascular treatment remains debated. This study evaluates the clinical effects of the Castor single-branched stent graft versus in situ fenestration in treating Stanford type B aortic dissection involving the LSA.
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