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Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders.
Mol Genet Genomic Med
February 2025
Department of Chemistry and Molecular Biology, Gothenburg University, Gothenburg, Sweden.
Background: SYNGAP1 encodes a Ras/Rap GTPase-activating protein that is predominantly expressed in the brain with the functional roles in regulating synaptic plasticity, spine morphogenesis, and cognition function. Pathogenic variants in SYNGAP1 have been associated with a spectrum of neurodevelopmental disorders characterized by developmental delays, intellectual disabilities, epilepsy, hypotonia, and the features of autism spectrum disorder. The aim of this study was to identify a novel SYNGAP1 gene variant linked to neurodevelopmental disorders and to evaluate the pathogenicity of the detected variant.
View Article and Find Full Text PDFLiquid biopsy for diagnosing epithelial ovarian cancer: quantification of cell-free DNA and p53 mutational analysis.
Int J Gynecol Cancer
January 2025
All India Institute of Medical Sciences, Department of Obstetrics and Gynecology (Gynecologic Oncology), Rishikesh, Uttarakhand, India. Electronic address:
Objective: To isolate and quantify cell-free DNA, analysis for p53 mutations, and correlation with tumor burden in women with epithelial ovarian cancer compared with benign and borderline epithelial ovarian tumors.
Methods: In this case-control study, plasma samples of eligible women collected 1 hour before surgery and based on final histopathology, women with epithelial ovarian cancer recruited as cases and borderline, and benign ovarian tumors as controls. Cell-free DNA extracted from plasma serum and quantified using Nanodrop Spectrophotometer.
Non-enhanced abbreviated MRI as a periodic surveillance protocol for colorectal liver metastases compared with contrast-enhanced CT: a prospective observational study.
Int J Surg
January 2025
Department of Radiology, Zhongshan Hospital, Fudan University, Shanghai, China.
Background: Adopting appropriate noninvasive radiological method is crucial for periodic surveillance of liver metastases in colorectal cancer (CRC) patients after surgery, which is closely related to clinical management and prognosis. This study aimed to prospectively enroll stage II-III CRC patients for the surveillance of liver metastases, and compare the diagnostic performance of contrast-enhanced CT (CE-CT) and non-enhanced abbreviated MRI (NE-AMRI) during this process.
Methods: 587 CRC patients undergoing radical resection of the primary tumor were evaluated by 1 to 3 rounds of surveillance tests, consisting of abdominal CE-CT and contrast-enhanced MRI (CE-MRI) within 7 days at 6-month intervals.
A chromosome-level, haplotype-resolved genome assembly and annotation for the Eurasian minnow (Leuciscidae: Phoxinus phoxinus) provide evidence of haplotype diversity.
Gigascience
January 2025
Leibniz Institute for the Analysis of Biodiversity Change, Museum Koenig Bonn, 53113 Bonn, Germany.
Background: In this study, we present an in-depth analysis of the Eurasian minnow (Phoxinus phoxinus) genome, highlighting its genetic diversity, structural variations, and evolutionary adaptations. We generated an annotated haplotype-phased, chromosome-level genome assembly (2n = 50) by integrating high-fidelity (HiFi) long reads and chromosome conformation capture data (Hi-C).
Results: We achieved a haploid size of 940 megabase pairs (Mbp) for haplome 1 and 929 Mbp for haplome 2 with high scaffold N50 values of 36.
EyeLiner: A Deep Learning Pipeline for Longitudinal Image Registration Using Fundus Landmarks.
Ophthalmol Sci
November 2024
Department of Ophthalmology, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
Objective: Detecting and measuring changes in longitudinal fundus imaging is key to monitoring disease progression in chronic ophthalmic diseases, such as glaucoma and macular degeneration. Clinicians assess changes in disease status by either independently reviewing or manually juxtaposing longitudinally acquired color fundus photos (CFPs). Distinguishing variations in image acquisition due to camera orientation, zoom, and exposure from true disease-related changes can be challenging.
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