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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.
Investigation of Anti-Apoptotic Effects and Mechanisms of Astragaloside IV in a Rat Model of Cerebral Ischemia-Reperfusion Injury.
CNS Neurosci Ther
January 2025
Qingshan Lake Science and Technology Innovation Center, Hangzhou Medical College, Hangzhou, China.
Background: Ischemic stroke is a prevalent and life-threatening cerebrovascular disease that is challenging to treat and associated with a poor prognosis. Astragaloside IV (AS-IV), a primary bioactive component of Astragali radix, has demonstrated neuroprotective benefits in previous studies. This study aimed to explore the mechanisms through which AS-IV may treat cerebral ischemia-reperfusion injury (CIRI).
View Article and Find Full Text PDFSurgical treatment of congenital pseudarthrosis of the Tibia in children: CPAM-LRC consensus and guidelines.
Int J Surg
January 2025
Department of Orthopedics, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Purpose: Congenital pseudarthrosis of the tibia (CPT) is a rare condition typically manifesting within the first decade of life. The primary objectives of surgical intervention for CPT include achieving long-term bony union of the tibia, preventing or minimizing limb length discrepancies (LLD), avoiding mechanical axis deviations of the tibia and adjacent joints, and preventing refracture. This study aims to conduct a systematic review of current treatment methods for CPT to determine the most effective non-surgical and surgical management strategies for pediatric patients with this condition.
View Article and Find Full Text PDFEffects of double data extraction on errors in evidence synthesis: a crossover, multicenter, investigator-blinded, randomized controlled trial.
Postgrad Med J
January 2025
Proof of Concept Center, Eastern Hepatobiliary Surgery Hospital, Third Affiliated Hospital, Second Military Medical University, Naval Medical University, No. 255, Yangpu District, Shanghai, 200433, China.
Objectives: The objective was to investigate the role of double extraction in reducing data errors in evidence synthesis for pharmaceutical and non-pharmaceutical interventions.
Design: Crossover randomized controlled trial (RCT).
Setting: University and hospital with teaching programs in evidence-based medicine.
An exploratory study evaluated the 30 most commonly reported medications in the United States food and drug administration's adverse event reporting system that are associated with the occurrence of kidney stones.
Front Pharmacol
December 2024
Department of Urology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan, China.
Objective: This research project aimed to identify and analyze the top 30 drugs most commonly associated with kidney stone formation using data from the U.S. Food and Drug Administration's Adverse Event Reporting System (FAERS) database.
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