Publications by authors named "U Anurathapan"

COVID-19 became a global pandemic in 2020 and significantly affected the activity of hematopoietic cell transplants (HCT) worldwide. Despite these challenges, a total of 28,793 transplants, including 18,518 allogeneic and 10,275 autologous transplants, were performed in 719 facilities in 2020 in the Asia-Pacific (AP) region. This represented a 5.

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Objectives: Graft-versus-host disease (GVHD) commonly affects the gastrointestinal (GI) tract among children who undergo hematopoietic stem cell transplantation (HSCT). Studies concerning GI-acute GVHD (aGVHD) in developing countries are limited. Therefore, our aims were (1) to demonstrate clinical characteristics, endoscopic and histopathological findings in children with GI-aGVHD post-HSCT and (2) to compare features, risk factors, and clinical outcomes of children with GI-aGVHD versus non GI-aGVHD.

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Article Synopsis
  • The study aimed to evaluate gonadal function in adolescent male patients with β-thalassemia who had received hematopoietic stem cell transplantation (HSCT) during their childhood or teenage years.
  • It included 52 patients aged 10 and older, assessing various clinical data and measuring serum hormone levels to determine gonadal function.
  • Results indicated that a significant majority (88%) experienced Sertoli cell dysfunction, with many showing signs of subfertility, yet Leydig cell function remained intact, highlighting the need for awareness regarding future reproductive challenges post-HSCT.
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Background: Gaucher disease (GD) is one of the most common types of lysosomal storage diseases (LSDs) caused by pathogenic variants of lysosomal β-glucocerebrosidase gene (GBA1), resulting in the impairment of Glucocerebrosidase (GCase) enzyme function and the accumulation of a glycolipid substrate, glucosylceramide (GlcCer) within lysosomes. Current therapeutic approaches such as enzyme replacement therapy and substrate reduction therapy cannot fully rescue GD pathologies, especially neurological symptoms. Meanwhile, delivery of lysosomal enzymes to the endocytic compartment of affected human cells is a promising strategy for treating neuropathic LSDs.

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  • * The study involved whole-exome sequencing of 48 tumor samples, identifying key genetic mutations and patterns related to neuroblastoma through bioinformatics analysis, including the discovery of a novel mutation.
  • * A total of 11 potentially actionable mutations and several cancer driver genes were identified, which could serve as therapeutic targets and offer insights into the disease's molecular mechanisms.
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