Introduction: To consider alternative mechanisms that give rise to a refluxing ureterovesical junction (UVJ), we hypothesized that children with a common heritable urinary tract defect, vesicoureteric reflux (VUR), may have a defect in the extracellular matrix composition of the UVJ and other tissues that would be revealed by assessment of the peripheral joints. Hypermobile joints can arise from defects in the extracellular matrix within the joint capsule that affect proteins, including tenascin XB (TNXB).
Methods: We performed an observational study of children with familial and non-familial VUR to determine the prevalence of joint hypermobility, renal scarring, and DNA sequence variants in TNXB.
Results: Most children (27/44) exhibited joint hypermobility using the Beighton scoring system. This included 15/26 girls (57.7%) and 12/18 boys (66.7%), which is a significantly higher prevalence for both sexes when compared to population controls (p<0.005). We found no association between joint hypermobility and renal scarring. Seven of 49 children harbored rare pathogenic sequence variants in TNXB, and two also exhibited joint hypermobility. No sequence variants in TNXB were identified in 25/27 children with VUR and joint hypermobility. Due to the observational design of the study, there was missing data for joint hypermobility scores in six children and for dimercaptosuccinic acid (DMSA) scans in 17 children.
Conclusions: We observed a high prevalence of VUR and joint hypermobility in children followed within a tertiary care pediatric urology clinic. While mutations in TNXB have been reported in families with VUR and joint hypermobility, we identified only two children with these phenotypes and pathogenic variants in TNXB. We, therefore, speculate that VUR and joint hypermobility may be due to mutations in other extracellular matrix genes.
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http://dx.doi.org/10.5489/cuaj.6068 | DOI Listing |
J ISAKOS
January 2025
Department of Sports Medicine, Kameda Medical Center, Kamogawa, Japan.
Objectives: We have previously shown that ultrasound-guided repair results in an accurate anchor placement and restores ankle joint stability using cadaveric models. The objective is to assess the safety and clinical outcomes of ultrasound-guided ATFL repair with or without augmentation.
Methods: Forty-nine patients with chronic lateral ankle instability underwent ultrasound-guided ATFL repair with or without augmentation.
Eur J Orthop Surg Traumatol
January 2025
Department of Orthopaedic Surgery, University of California San Diego, 200 West Arbor Drive MC 8894, San Diego, CA, 92103, USA.
Purpose: While treatment modalities for Maisonneuve fractures involving the proximal third of the fibula are established, no studies to date have reported outcomes associated with syndesmotic-only fixation of middle third fibular shaft fractures. The purpose of this study was to evaluate outcomes associated with syndesmotic-only fixation in the treatment of Maisonneuve fractures involving the middle third of the fibula.
Methods: A retrospective review was conducted on 257 cases of syndesmotic ankle instability with associated fibular fractures at a level 1 trauma center between 2013 and 2023.
Nucleic Acids Res
January 2025
MOE Key Laboratory of Biosystems Homeostasis and Protection, College of Life Sciences, Zhejiang University, No.866 Yuhangtang Road, 310058, Hangzhou, China.
Meiosis in mammalian oocytes is interrupted by a prolonged arrest at the germinal vesicle stage, during which oocytes have to repair DNA lesions to ensure genome integrity or otherwise undergo apoptosis. The FIRRM/FLIP-FIGNL1 complex dissociates RAD51 from the joint DNA molecules in both homologous recombination (HR) and DNA replication. However, as a type of non-meiotic, non-replicative cells, whether this RAD51-dismantling mechanism regulates genome integrity in oocytes remains elusive.
View Article and Find Full Text PDFAdv Healthc Mater
January 2025
College of Chinese Medicinal Materials, Jilin Agricultural University, Changchun, 130118, China.
Natural plant-derived polysaccharides exhibit substantial potential for treating ulcerative colitis (UC) owing to their anti-inflammatory and antioxidant properties and favorable safety profiles. However, their practical application faces several challenges, including structural instability in gastric acid, imprecise targeting of inflamed regions, and limited intestinal retention times. To address these limitations, pH-responsive, colon-targeting microspheres (pWGPAC MSs) are developed for delivering phosphorylated wild ginseng polysaccharides (pWGP) to alleviate UC.
View Article and Find Full Text PDFJ Clin Med
December 2024
FP-I3ID, Faculty of Health Sciences, University Fernando Pessoa, 4200-150 Porto, Portugal.
Generalized joint hypermobility (GJH) is a common condition characterized by an increased range of motion across multiple joints. Previous studies have suggested a possible association between GJH and temporomandibular disorders (TMDs). This study aimed to assess the prevalence of GJH in a Portuguese population of young university adults and to explore the relationship between GJH, temporomandibular joint (TMJ) symptoms/clinical findings, chronic painful TMDs, and chronic painful TMDs subtypes (myalgia, arthralgia, or combined myalgia and arthralgia).
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