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Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer.
J Ovarian Res
January 2025
Department of Medical Genetics, National Taiwan University Hospital, 19F, No. 8, Chung-Shan South Road, Taipei City, Taiwan.
Background: The homologous recombination deficiency (HRD) test is an important tool for identifying patients with epithelial ovarian cancer (EOC) benefit from the treatment with poly(adenosine diphosphate-ribose) polymerase inhibitor (PARPi). Using whole exome sequencing (WES)-based platform can provide information of gene mutations and HRD score; however, the clinical value of WES-based HRD test was less validated in EOC.
Methods: We enrolled 40 patients with EOC in the training cohort and 23 in the validation cohort.
Postural stability measures as diagnostic tools for chronic ankle instability: a comprehensive assessment.
BMC Sports Sci Med Rehabil
January 2025
Department of Physiotherapy, School of Rehabilitation, Tehran University of Medical Science, Enghelab St, Pich-e-Shemiran, Tehran, Iran.
Background: Chronic ankle instability (CAI) is characterized by recurrent sprains and persistent symptoms, which impair postural control. This study evaluates the diagnostic utility of various linear and nonlinear postural stability measures in distinguishing individuals with CAI from healthy controls.
Methods: Postural stability was assessed in 24 participants (12 with CAI and 12 healthy controls) using a force platform under four conditions: hard surface with eyes open, hard surface with eyes closed, soft surface with eyes open, and soft surface with eyes closed.
Comprehensive analysis of ESCRT transcriptome-associated signatures and identification of the regulatory role of LMO7-AS1 in osteosarcoma.
Cancer Cell Int
January 2025
Department of Orthopaedics, The Second Affiliated Hospital of Anhui Medical University, Hefei, 230601, China.
Osteosarcoma (OS) is a commonly observed malignant tumor in orthopedics that has a very poor prognosis. The endosomal sorting complex required for transport (ESCRT) is important for the development and progression of cancer and may be a significant target for cancer therapy. First, we built a prognostic signature using 7 ESCRT-related genes (ERGs) to predict OS patient prognosis.
View Article and Find Full Text PDFAPOEε4 alters ApoE and Fabp7 in frontal cortex white matter in prodromal Alzheimer's disease.
J Neuroinflammation
January 2025
Department of Translational Neuroscience, Barrow Neurological Institute, Phoenix, AZ, 85013, USA.
The ApoE ε4 allele (APOEε4) is a major genetic risk factor for sporadic Alzheimer's disease (AD) and is linked to demyelination and cognitive decline. However, its effects on the lipid transporters apolipoprotein E (ApoE) and fatty acid-binding protein 7 (Fabp7), which are crucial for the maintenance of myelin in white matter (WM) during the progression of AD remain underexplored. To evaluate the effects of APOEε4 on ApoE, Fabp7 and myelin in the WM of the frontal cortex (FC), we examined individuals carrying one ε4 allele that came to autopsy with a premortem clinical diagnosis of no cognitive impairment (NCI), mild cognitive impairment (MCI) and mild to moderate AD compared with non-carrier counterparts.
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