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http://dx.doi.org/10.1016/j.jcin.2023.01.370 | DOI Listing |
Gynecol Endocrinol
December 2025
National Clinical Research Center for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Objective: To expand the clinical phenotype associated with MYRF mutations in disorders of sex development (DSDs).
Methods: We present a case of a 17-year-old patient with a female phenotype who presented with primary amenorrhea.
Results: The patient's external genitalia was entirely female in appearance, though there was no opening of vagina below the orifice of urethra.
Immunol Res
September 2025
Department of Immunology and Allergy, Faculty of Medicine, Necmettin Erbakan University, Konya, Türkiye.
Background: Variants of uncertain significance (VUS) represent a major diagnostic challenge in the interpretation of genetic testing results, particularly in the context of inborn errors of immunity such as severe combined immunodeficiency (SCID). The inconsistency among computational prediction tools often necessitates expensive and time-consuming wet-lab analyses.
Objective: This study aimed to develop disease-specific, multi-class machine learning models using in silico scores to classify SCID-associated genetic variants and improve the interpretation of VUS.
Cont Lens Anterior Eye
September 2025
Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Affiliated People's Hospital of Northwest University, Xi'an 710004, China. Electronic address:
Background: Orthokeratology (OK) lenses have become a prevalent intervention for myopia control. However, lens decentration, a frequent complication, may influence the efficacy of myopia control. The aim of this study was to systematically assess the impact of OK lens decentration on axial length growth (ALG) in Chinese myopic children through a meta-analysis.
View Article and Find Full Text PDFJ Prosthet Dent
September 2025
Full Professor, School of Mechanical Engineering, Universidad Industrial de Santander, Bucaramanga, Colombia. Electronic address:
Statement Of Problem: Although custom temporomandibular joint (TMJ) prostheses manufactured via computer-aided design and manufacturing (CAD-CAM) and produced through 3-dimensional (3D) printing or computer numerical control (CNC) allow for sagittal curvature adjustments in the glenoid fossa, their design remains unregulated by the Food and Drug Administration. Consequently, the geometry is determined largely by the engineer's discretion, with limited biomechanical evidence to guide these decisions. The lack of validation regarding how sagittal curvature influences joint stress distribution under various anatomical and functional conditions represents a gap in current knowledge that warrants investigation.
View Article and Find Full Text PDFSci Justice
September 2025
School of Life Sciences, University of KwaZulu-Natal, Private Bag X54001, Westville, Durban 4000, South Africa. Electronic address:
A compound marker integrates two or more genetic markers into a single assay. The application of compound markers enhances the predictive accuracy of genetic testing by leveraging the strengths of different genetic variations while mitigating the limitations of individual markers. Compound markers include SNP-SNPs, SNP-STRs, DIP-SNPs, DIP-STRs, Multi-In/Dels, CpG-SNPs, CpG-STRs/CpG-In/Del, and Methylation-Microhaplotypes.
View Article and Find Full Text PDF