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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFCalcination-Induced Tight Nano-Heterointerface for Highly Effective Eradication of Rib Fracture-Related Infection by Near-Infrared Irradiation.
ACS Appl Mater Interfaces
January 2025
School of Materials Science & Engineering, The Key Laboratory of Advanced Ceramics and Machining Technology by the Ministry of Education of China, Tianjin University, Tianjin 300072, China.
Rib fracture-related infection is a challenging complication of thoracic trauma due to the difficulty of treating it with antibiotics alone and the need for a second operation to remove the infected fixator and sterilize the surrounding infected tissue. In this study, inspired by the photocatalytic performance of and ion release from silver-based materials, including AgPO and AgS, a hybrid AgPO-AgS heterojunction was prepared based on anion exchange and a one-step calcination process to design a nonantibiotic coating aimed at preventing and treating rib fracture-related infection with short-term 808 nm near-infrared irradiation. Calcination at 250 °C enhanced the inductive effect of the phosphate radical and led to the formation of a tight nanoheterogeneous interface between AgPO and AgS, thereby promoting interfacial electron transfer and reducing the recombination of photogenerated carriers.
View Article and Find Full Text PDFUnlikely Double Trouble: Two Cases of Haemobilia From One Motor Vehicle Accident.
Cureus
December 2024
Department of Colorectal Surgery, Liverpool Hospital, Sydney, AUS.
Blunt abdominal trauma frequently results in visceral injury to either solid or hollow organs; however, injury to the gallbladder is rare. This is most likely due to the anatomical position of the gallbladder, which is well-insulated posterior to the liver and rib cage. Gallbladder injuries can be in the form of avulsion, contusion, or laceration.
View Article and Find Full Text PDFCase Report: Prenatal diagnosis of novel compound heterozygous variants in gene causing short-rib thoracic dysplasia 7 with or without polydactyly.
Front Pediatr
January 2025
Department of Neurology, Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Background: Whole exome sequencing (WES) technology has been increasingly used for the etiological diagnosis of fetuses with ultrasound anomalies. In this article, we report a novel deletion compound combined with a causative variant in gene leading to short-rib thoracic dysplasia 7 (SRTD7) with or without polydactyly using WES.
Methods: This study involved a Chinese fetus with clinical features of skeletal dysplasia on ultrasound imaging, in whom chromosome abnormalities and copy number variants (CNVs) were detected by chromosomal microarray analysis (CMA), and sequence variants were detected by WES.
Diagnostic utility of chest wall vessel involvement sign on ultra-high-resolution CT for primary lung cancer infiltrating the chest wall.
Eur Radiol
January 2025
Department of Radiology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Objectives: Chest wall infiltration in primary lung cancer affects the surgical and therapeutic strategies. This study evaluates the efficacy of the chest wall vessel involvement in subpleural lung cancer (CWVI) on ultra-high-resolution CT (UHR-CT) for detecting chest wall invasion.
Materials And Methods: A retrospective analysis of lung cancer cases with confirmed pleural and chest wall invasion was conducted from November 2019 to April 2022.
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