[This corrects the article DOI: 10.1371/journal.pone.0267702.].
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Genes (Basel)
November 2024
Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
(1) Background: Most rare disease patients endure long delays in obtaining a correct diagnosis, the so-called "diagnostic odyssey", due to a combination of the rarity of their disorder and the lack of awareness of rare diseases among both primary care professionals and specialists. Next-generation sequencing (NGS) techniques that target genes underlying diverse phenotypic traits or groups of diseases are helping reduce these delays; (2) Methods: We used a combination of biochemical (thin-layer chromatography and high-performance liquid chromatography-tandem mass spectrometry), NGS (resequencing gene panels) and splicing assays to achieve a complete diagnosis of three patients with suspected metachromatic leukodystrophy, a neurologic lysosomal disorder; (3) Results: Affected individuals in each family were homozygotes for harmful variants in the gene, one of them novel (c.854+1dup, in family 1) and the other already described (c.
View Article and Find Full Text PDFBrief Bioinform
November 2024
Center for Genomics and Biotechnology, Fujian Provincial Key Laboratory of Haixia Applied Plant Systems Biology, Haixia Institute of Science and Technology, Fujian Agriculture and Forestry University, No. 15 Shangxiadian Road, Cangshan District, Fuzhou 350002, China.
Spatial transcriptomics (ST) technologies enable dissecting the tissue architecture in spatial context. To perceive the global contextual information of gene expression patterns in tissue, the spatial dependence of cells must be fully considered by integrating both local and non-local features by means of spatial-context-aware. However, the current ST integration algorithm ignores for ST dropouts, which impedes the spatial-aware of ST features, resulting in challenges in the accuracy and robustness of microenvironmental heterogeneity detecting, spatial domain clustering, and batch-effects correction.
View Article and Find Full Text PDFJ Res Med Sci
November 2024
Department of Geriatric Medicine, Milton Keynes University Hospital NHS Foundation Trust, Eaglestone, Milton Keynes, Buckinghamshire, UK.
We report the case of a 72-year-old woman who was admitted following a fall and sustained a right neck of femur fracture. Prior to this admission, she was undergoing chemotherapy for lung cancer. Upon this admission, it was noted that she had developed neutropenic sepsis.
View Article and Find Full Text PDFHemoglobin
January 2025
Howard University College of Pharmacy, Washington, DC, USA.
Sickle cell disease (SCD) primarily affects people of African American descent in the United States. Many individuals do not know their sickle cell trait (SCT) status or might not be aware of SCD. The purpose of this study was to assess SCD knowledge, awareness of SCT status, and its impact on relationships.
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