The case presented here describes a female patient with recurrent miscarriages and a normal microarray analysis result. However, the coexistence of a robertsonian (21;21) translocation and complementary mosaic ring chromosome 21 was detected by karyotyping and FISH analysis. Partial trisomy 21 was found with QF-PCR and microarray analysis in one of the fetuses. The aim of this report was to emphasize the diagnostic importance of conventional cytogenetics.
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http://dx.doi.org/10.1159/000500986 | DOI Listing |
J Clin Lab Anal
January 2025
Department of Urology, Zhongshan People's Hospital, ZhongShan, China.
Objective: To explore the impact of in vitro cell subculture on prenatal diagnostic sample results and compare the efficacy of conventional karyotyping and chromosomal microarray analysis (CMA) in detecting chromosome mosaicism.
Methods: We conducted a retrospective analysis of G-banding karyotyping and CMA data from 2007 amniocentesis cases to investigate chromosome mosaicism.
Results: Chromosome mosaicism was detected in 1.
Sci Rep
January 2025
State Key Laboratory for Conservation and Utilization of Bio-Resources in Yunnan, Yunnan Agricultural University, Kunming, 650201, China.
Paris yunnanensis, also named as Rhizoma Paridis in the Chinese Pharmacopeia, is a perennial Chinese medicinal herb commonly grown in Southwest China. However, several viruses have been found infecting this plant in recent years. Using high-throughput sequencing (HTS) and Sanger sequencing, this study obtained the complete genome sequences of three capillovirus isolates and one potyvirus isolate.
View Article and Find Full Text PDFEur Radiol
December 2024
Department of Radiology, Beaujon Hospital, AP-HP.Nord, Clichy, France.
Objectives: This study evaluates the prognostic value of tumor response on CT at 3 months, assessed by Response Evaluation Criteria in Solid Tumors (RECIST), modified RECIST (mRECIST), and Liver Imaging Reporting and Data System Treatment Response Algorithm (LR-TRA) in patients with hepatocellular carcinoma (HCC) treated with selective internal radiation therapy (SIRT).
Materials And Methods: A retrospective analysis was conducted on 102 HCC patients treated with SIRT between 2018 and 2020. RECIST, mRECIST, and LR-TRA were assessed at 3 months post-SIRT.
Nat Methods
December 2024
Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.
Dissecting human neurobiology at high resolution and with mechanistic precision requires a major leap in scalability, given the need for experimental designs that include multiple individuals and, prospectively, population cohorts. To lay the foundation for this, we have developed and benchmarked complementary strategies to multiplex brain organoids by pooling cells from different pluripotent stem cell (PSC) lines either during organoid generation (mosaic models) or before single-cell RNA sequencing (scRNA-seq) library preparation (downstream multiplexing). We have also developed a new computational method, SCanSNP, and a consensus call to deconvolve cell identities, overcoming current criticalities in doublets and low-quality cell identification.
View Article and Find Full Text PDFArch Virol
October 2024
Department of Horticulture, Foshan University, Foshan, Guangdong, 528225, P. R. China.
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