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Biomedical subjects

Huy Nguyen

Publications and source records attributed to Huy Nguyen.

6 recordsLinked to original sources

Disruption of Microhomology-mediated End-joining in Ewing Sarcoma.

Ewing sarcoma (EwS) is a group of bone and soft tissue cancers in children and young adults. Since EwS cells have pronounced sensitivity to radiation and chemotherapy-induced DNA damage, the role of the oncoprotein, EWS-FLI1, in DNA repair is likely. Here, we demonstrate that EWS-FLI1 causes a defect in microhomology-mediated end-joining (MMEJ) repair. EWSR1 is a splicing factor that promotes the faithful splicing of the POLQ pre-mRNA, required for the expression of POLΘ, a critical protein in the MMEJ pathway. Expression of EWS-FLI1, or loss of EWSR1, causes exon 25 skipping of the POLQ transcript, decreased POLΘ expression, impaired MMEJ, and cellular sensitivity to inhibitors of the Fanconi Anemia (FA), NHEJ, or HR pathways, through the mechanism of synthetic lethality. Knockdown of EWS-FLI1 expression restores POLΘ mitotic foci and increases MMEJ activity. Inhibitors of the FA, NHEJ, or HR therefore may provide a targeted therapy for patients with EwS.

Alternative end-joining↗

OmnibusX: A unified platform for accessible multi-omics analysis.

OmnibusX is an integrated, privacy-centric platform that enables code-free multi-omics data analysis by bridging computational methodologies with user-friendly interfaces. Designed to overcome challenges posed by fragmented analytical tools and high computational barriers, OmnibusX consolidates workflows for diverse technologies - including bulk RNA-seq, single-cell RNA-seq, single-cell ATAC-seq, and spatial transcriptomics - into a single, cohesive application. The application integrates established open-source tools such as Scanpy, DESeq2, SciPy, and scikit-learn into transparent, reproducible pipelines, offering users control over analytical parameters. Additionally, OmnibusX features proprietary modules, including a highly accurate cell-type prediction engine and an interactive plotting editor for generating publication-quality visualizations. Available as a standalone desktop application and an enterprise edition for centralized server deployment, OmnibusX ensures all data processing is conducted locally, eliminating external data transfer and usage tracking. By lowering technical barriers and enhancing reproducibility, OmnibusX aims to accelerate biological discovery and foster robust, data-driven collaborations. A fully documented trial version is accessible at: https://omnibusx.com/apps.

Computational Biology↗

Assessment of therapeutic response in patients with metastatic bone disease.

Metastatic bone disease is common in cancer patients and causes substantial disease-related morbidity and mortality. However, several effective treatments are available for the management of these patients. Bisphosphonates, which inhibit osteoclast-mediated resorption of bone matrix, are especially important because they decrease the incidence of skeletal-related events in many tumour types and can complement antineoplastic therapies. At present, assessment of treatment for bone metastases is hindered by a lack of effective, rapid methods to measure disease response. We discuss the difficulties of current measures of response assessment and describe the development of new radiological and biochemical markers of bone metastases. Assays that detect type I collagen telopeptides as markers of bone resorption seem to be most promising at present.

Absorptiometry, Photon↗

Adapting a substance abuse court diversion model for felony offenders with co-occurring disorders: initial implementation.

Treatment Alternatives for Dually Diagnosed (TADD) was developed to address the need for criminal justice diversion of seriously mentally ill substance-using felons and persistent misdemeanants. The population served by the TADD program and key elements of the program are described, including identification, screening and assessment, specialized court processing and judicial oversight, case management monitoring, joint case conferencing between community and monitoring staff, enforcement, and key stakeholder collaboration. One hundred and thirteen clients diverted by the TADD program were followed for six months. A description is provided of these clients, the community services accessed, as well as the monitoring of clients drug use. During six months of program involvement 87% remained connected to the diversion team, 80% remained in community treatment and the majority took advantage of the rich service environment created through TADD's case management linkage services. The majority of these clients tested drug-free during this six-month period.

Adolescent↗

The structure of haplotype blocks in the human genome.

Haplotype-based methods offer a powerful approach to disease gene mapping, based on the association between causal mutations and the ancestral haplotypes on which they arose. As part of The SNP Consortium Allele Frequency Projects, we characterized haplotype patterns across 51 autosomal regions (spanning 13 megabases of the human genome) in samples from Africa, Europe, and Asia. We show that the human genome can be parsed objectively into haplotype blocks: sizable regions over which there is little evidence for historical recombination and within which only a few common haplotypes are observed. The boundaries of blocks and specific haplotypes they contain are highly correlated across populations. We demonstrate that such haplotype frameworks provide substantial statistical power in association studies of common genetic variation across each region. Our results provide a foundation for the construction of a haplotype map of the human genome, facilitating comprehensive genetic association studies of human disease.

Africa↗

Effectiveness of a burn prevention campaign for older adults.

Older adults are involved in one fifth of burn injury admissions in the Province of Ontario Canada. Most burn injuries in this population occur at home while cooking, bathing, or smoking. The purpose of this study was to evaluate the effectiveness of an educational campaign to improve burn prevention knowledge in older adults of a major metropolitan city. Changes in participants' burn prevention knowledge were determined using standardized precampaign and postcampaign (4-6 weeks) surveys. Of 209 older adult participants, 126 (60.3%) completed the precampaign and postcampaign surveys. There was a significant increase (P <.05) in burn prevention knowledge postintervention. Age, education level, and living conditions did not influence the change in burn prevention knowledge. This burn prevention campaign for older adults was effective in improving burn prevention knowledge, but it remains unclear as to whether this will ultimately result in a change in burn prevention behavior.

Age Distribution↗