This 45-year-old woman was admitted with neck and back pain and difficulty in ambulation that had been progressively worsening for 2 years. Admission MR imaging revealed a cervicomedullary junction tumor and 2 intradural-extramedullary spinal tumors located separately at the levels of T5-6 and T8-9. All masses were successfully resected in a 2-stage operation. Histopathological examination of the surgical specimens revealed that all the lesions were ependymomas. Genetic analysis was performed to determine if the tumors were related. Conventional cytogenetics, multiplex fluorescence in situ hybridization (M-FISH), interphase-FISH specific to 22q11, and epidermal growth factor receptor loci analyses of the tumor samples revealed that the lesions originated from the same primary tumor. Although 3 simultaneous tumors in different compartments of the neural axis were diagnosed as ependymoma by histopathological examination, it was not possible to be sure if their multiplicity was due to spread of tumor cells via CSF or if it was due to multicentric foci. Thus, genetic analysis of the tumor samples is essential to confirm the exact mechanism of development of multiple ependymomas.
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http://dx.doi.org/10.3171/2009.11.SPINE08780 | DOI Listing |
Biometrics
January 2025
Department of Statistics and Data Science, National University of Singapore, Singapore 117546, Singapore.
Pharmacogenomics stands as a pivotal driver toward personalized medicine, aiming to optimize drug efficacy while minimizing adverse effects by uncovering the impact of genetic variations on inter-individual outcome variability. Despite its promise, the intricate landscape of drug metabolism introduces complexity, where the correlation between drug response and genes can be shaped by numerous nongenetic factors, often exhibiting heterogeneity across diverse subpopulations. This challenge is particularly pronounced in datasets such as the International Warfarin Pharmacogenetic Consortium (IWPC), which encompasses diverse patient information from multiple nations.
View Article and Find Full Text PDFJ Physiol
January 2025
Department of Physiology and Pharmacology, University of Western Ontario, London, ON, Canada.
Here we characterize seven Cx30.3 gene variants (R22H, S26Y, P61R, C86S, E99K, T130M and M190L) clinically associated with the rare skin disorder erythrokeratodermia variabilis et progressiva (EKVP) in tissue-relevant and differentiation-competent rat epidermal keratinocytes (REKs). We found that all variants, when expressed alone or together with wildtype (WT) Cx30.
View Article and Find Full Text PDFBlood Coagul Fibrinolysis
December 2024
Department of Hematology, The Second Affiliated Hospital, Chongqing Medical University, Jiangnan, Chongqing, China.
Background: Congenital factor VII (FVII) deficiency is a genetic disorder characterized by decreased FVII activity, which sometimes leads to fatal bleeding. Numerous variants have been found in FVII deficiency, but mutations vary among patients. Each mutation deserves further exploration for each patient at risk of bleeding.
View Article and Find Full Text PDFJ Virol
January 2025
SA MRC Antibody Immunity Research Unit, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Parktown, Johannesburg, South Africa.
The Antibody Mediated Prevention (AMP) trials showed that passively infused VRC01, a broadly neutralizing antibody (bNAb) targeting the CD4 binding site (CD4bs) on the HIV-1 envelope protein (Env), protected against neutralization-sensitive viruses. We identified six individuals from the VRC01 treatment arm with multi-lineage breakthrough HIV-1 infections from HVTN703, where one variant was sensitive to VRC01 (IC < 25 ug/mL) but another was resistant. By comparing Env sequences of resistant and sensitive clones from each participant, we identified sites predicted to affect VRC01 neutralization and assessed the effect of their reversion in the VRC01-resistant clone on neutralization sensitivity.
View Article and Find Full Text PDFMicrobiol Spectr
January 2025
Department of Pharmacology, Showa University Graduate School of Medicine, Shinagawa, Tokyo, Japan.
Unlabelled: The concept of genome-microbiome interactions, in which the microenvironment determined by host genetic polymorphisms regulates the local microbiota, is important in the pathogenesis of human disease. In otolaryngology, the resident bacterial microbiota is reportedly altered in non-infectious ear diseases, such as otitis media pearls and exudative otitis media. We hypothesized that a single-nucleotide polymorphism in the ATP-binding cassette sub-family C member 11 () gene, which determines earwax properties, regulates the ear canal microbiota.
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