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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, Maryland. 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 tissues. This study aimed to evaluate the clinical utility of data from OGM compared with current standard-of-care cytogenetic testing.
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.
View Article and Find Full Text PDFChromosomal Anomalies in Fetuses With Increased Nuchal Translucency: A Vietnamese Retrospective Study.
Cureus
October 2024
Prenatal Care Unit, Tu Du Hospital, Ho Chi Minh City, VNM.
Background Previously, fetuses with increased nuchal translucency (NT) were mainly tested for aneuploidy. Recent evidence has shown an incidence of other genetic disorders in euploidy fetuses with thickened NT. Chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) can detect the incremental yield of microdeletions and microduplications (copy number variants (CNVs)) and provide useful information for prenatal counseling.
View Article and Find Full Text PDFHeterogeneous virus classification using a functional deep learning model based on transmission electron microscopy images.
Sci Rep
November 2024
Electronics and Communication Engineering Discipline, Khulna University, Khulna, 9208, Bangladesh.
Viruses are submicroscopic agents that can infect other lifeforms and use their hosts' cells to replicate themselves. Despite having simplistic genetic structures among all living beings, viruses are highly adaptable, resilient, and capable of causing severe complications in their hosts' bodies. Due to their multiple transmission pathways, high contagion rate, and lethality, viruses pose the biggest biological threat both animal and plant species face.
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