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Development, optimization and application of a universal fluorescence multiplex PCR-based assay to detect BCOR genetic alterations in pediatric tumors.
Diagn Pathol
January 2025
Department of Pathology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Background: A number of genetic aberrations are associated with the BCL6-correpresor gene (BCOR), including internal tandem duplications (ITDs) and gene fusions (BCOR::CCNB3 and BCOR::MAML3), as well as YWHAE::NUTM2, which are found in clear cell sarcoma of the kidney (CCSK), sarcoma with BCOR genetic alterations, primitive myxoid mesenchymal tumor of infancy, and high-grade neuroepithelial tumors in children. Detecting these gene aberrations is crucial for tumor diagnosis. ITDs can be identified by Sanger sequencing or agarose gel electrophoresis.
View Article and Find Full Text PDFPCR-based diagnosis and clinical insights into parasitic keratitis.
J Microbiol Immunol Infect
January 2025
Department of Ophthalmology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan. Electronic address:
Purpose: This retrospective study aimed to investigate demographic characteristics, predisposing factors, and clinical outcomes in patients with parasitic keratitis.
Methods: Medical records of patients with molecularly confirmed Acanthamoeba or microsporidia, identified through corneal scraping specimens (collected between September 21, 2017, and June 27, 2023), were reviewed. Demographic data, clinical profiles, such as symptom duration before confirmed diagnosis, antiviral treatment pre-diagnosis, contact lens use, tap water and soil contamination, ocular trauma, and treatment regimens, were analyzed.
Fungal Infections in Kidney Transplant Recipients: A Comprehensive Narrative Review.
Microorganisms
January 2025
Infectious and Tropical Diseases Unit, Padua University Hospital, 35128 Padua, Italy.
Background: Despite kidney transplantation being a life-saving procedure, patients experience a high risk of developing fungal infections (FIs), with an increased risk of both morbidity and mortality, especially during the first year after transplant.
Methods: We herein conducted a narrative review of the most common FIs in kidney transplant recipients (KTRs), with a focus on prevalence, risk factors, mortality, and prevention strategies.
Results: The most common fungal pathogens in KTRs include species (up to 70% of the overall FIs), species, , and species.
Clinical Evaluation of a Rapid Reciprocal-Flow PCR Assay and Real-Time PCR Assay with Quenching Probe for Detection of Complex.
Microorganisms
January 2025
Department of Laboratory Medicine, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki 852-8501, Japan.
This study investigated the diagnostic efficiencies of two assays for the detection of complex: (1) the reciprocal-flow real-time polymerase chain reaction (PCR)-based GeneSoC assay and (2) the real-time PCR based GENECUBE MTB assay with quenching probe. These assays were performed for stored clinical samples and results were compared with the confirmed results based on culture and COBAS TaqMan MTB assay. A total of 53 samples (20 confirmed positives and 33 confirmed negatives) were included in the performance analysis.
View Article and Find Full Text PDFNationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis.
BMC Med Genomics
January 2025
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.
Background: Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD CAH) is an autosomal recessive disorder resulting from pathogenic variants in the CYP21A2 gene. The disorder exhibits variable clinical severity, with the classical form manifesting as salt-wasting crisis in neonates, while inducing ambiguous genitalia in females and precocious puberty in males through simple virilization. Identifying at-risk couples during the preconception stage holds significance for optimizing reproductive choices.
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