Publications by authors named "Hoa T P Bui"
Li-Fraumeni syndrome (LFS) is a hereditary disorder characterized by an increased risk of developing multiple early-onset cancers, primarily due to germline mutations. Women and men with this mutation face lifetime cancer risks of 90% and 70%, respectively. This report describes the first documented case of LFS with clinical information in Vietnam involving a 9-year-old child diagnosed with osteosarcoma who had multiple first- and second-degree relatives with cancer.
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- * The study explored the effectiveness of genetic testing, specifically looking at copy number variations (CNVs) in Vietnamese children with ASD, finding a diagnostic success rate of around 6%.
- * Researchers identified 1708 CNVs in total, with 118 being de novo, and highlighted a significant occurrence of deletions in the SHANK3 gene among patients, establishing a basis for developing a CNV-based diagnostic test for ASD in Vietnam.
Mesenchymal stem/stromal cells (MSCs) are multipotent stem cells that can be isolated from bone marrow, adipose tissue, the umbilical cord, dental pulp, etc. These cells have unique properties that give them excellent therapeutic potential, including immunoregulation, immunomodulation, and tissue regeneration functions. MSC-based products are considered advanced therapy medicinal products (ATMPs) under European regulations (1394/2007); thus, they must be manufactured under good manufacturing practices and via effective manufacturing methods.
View Article and Find Full Text PDFHuman bone marrow-derived mesenchymal stem/stromal cells (BM-MSCs) represent promising stem cell therapy for the treatment of type 2 diabetes mellitus (T2DM), but the results of autologous BM-MSC administration in T2DM patients are contradictory. The purpose of this study was to test the hypothesis that autologous BM-MSC administration in T2DM patient is safe and that the efficacy of the treatment is dependant on the quality of the autologous BM-MSC population and administration routes. T2DM patients were enrolled, randomly assigned (1:1) by a computer-based system into the intravenous and dorsal pancreatic arterial groups.
View Article and Find Full Text PDFThe aim of this study was to evaluate the safety and efficacy of autologous bone marrow mononuclear cell transplantation combined with educational intervention for children with autism spectrum disorder. An open-label clinical trial was performed from July 2017 to August 2019 at Vinmec International Hospital, Hanoi, Vietnam. Thirty children who fulfilled the autism criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, and had Childhood Autism Rating Scale (CARS) scores >37 were selected.
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- - Autism spectrum disorder (ASD) affects about 1% of the global population, but research is limited in the Vietnamese community; this study explores its genetic factors through whole exome sequencing of 100 affected children and their parents.
- - The study identified 18 unique genetic variants linked to ASD, including both newly discovered variants and previously recognized risk genes, especially noting a high prevalence of X-linked variants found only in affected males.
- - This research enhances understanding of the genetic diversity of ASD and highlights specific genes potentially associated with the disorder, marking the first detailed examination of the genetic landscape of ASD in Vietnamese children.
Article Synopsis
- Large-scale genome projects have led to the creation of valuable genetic databases, but Vietnam's genetic studies have mostly relied on data from other populations.
- To address this gap, researchers sequenced and compiled a database of 406 Kinh Vietnamese individuals, identifying nearly 25 million genetic variants.
- This KHV database could enhance genetic research and medical applications for the Vietnamese population and related groups, as it includes many previously unrecognized genetic mutations.