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Plasmodium falciparum with pfhrp2 and pfhrp3 gene deletions in asymptomatic malaria infections in the Lake Victoria region, Kenya.
Trop Med Health
December 2024
Department of Parasitology, Graduate School of Medicine, Osaka Metropolitan University, Osaka, Japan.
Malaria rapid diagnostic tests (RDTs) targeting the Plasmodium falciparum histidine-rich protein 2 (PfHRP2) are widely used to diagnose P. falciparum infection. However, reports of P.
View Article and Find Full Text PDFDiagnostic and Prognostic/Therapeutic Significance of Comprehensive Analysis of Bone and Soft Tissue Tumors Using Optical Genome Mapping and Next-generation Sequencing.
Mod Pathol
December 2024
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:
Detecting somatic structural variants (SVs), copy number variants (CNVs), and mutations in bone and soft tissue tumors is essential for accurately diagnosing, treating, and prognosticating outcomes. Optical genome mapping (OGM) holds promise to yield useful data on SVs and CNVs but requires fresh or snap-frozen tissue. This study aimed to evaluate the clinical utility of data from OGM compared to current standard-of-care cytogenetic testing.
View Article and Find Full Text PDF[The role of cytogenetic tests in the diagnosis of malignant hematologic diseases].
Magy Onkol
December 2024
Laboratóriumi Medicina Intézet, Debreceni Egyetem, Általános Orvostudományi Kar, Klinikai Genetikai Tanszék, Debrecen, Hungary.
In malignant hematological diseases, clonal genetic alterations, such as chromosomal aberrations and gene mutations, are responsible for the uncontrolled division of abnormal hemopoietic cells. The detection of clonal variants has not only diagnostic, but also prognostic and therapeutic significance. They enable risk-based differentiated treatment of patients and the use of targeted (genotype-specific) therapies.
View Article and Find Full Text PDFIntroduction: Asymptomatic malaria infection is now recognized as a potential threat to malaria control. However, its prevalence and its dynamics are poorly documented especially in a perennial context of high seasonal transmission. A longitudinal study was conducted in southern Benin to investigate the dynamics of asymptomatic malaria infection and to identify factors influencing it.
View Article and Find Full Text PDFMulti-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency.
Sci Rep
December 2024
Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76, Stockholm, Sweden.
Inversions are balanced structural variants that often remain undetected in genetic diagnostics. We present a female proband with a de novo Chromosome 15 paracentric inversion, disrupting MEIS2 and NUSAP1. The inversion was detected by short-read genome sequencing and confirmed with adaptive long-read sequencing.
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