Publications by authors named "C Ittiwut"
Background: Thus far, genetic analysis of patients clinically diagnosed with glycogen storage diseases (GSDs) in Thailand has not been reported.
Aim: To evaluate the clinical and biochemical profiles, molecular analysis and long-term outcomes of Thai children diagnosed with hepatic GSD.
Methods: Children aged < 18 years diagnosed with hepatic GSD and followed up at King Chulalongkorn Memorial Hospital were recruited.
Whole exome sequencing in relapsed or refractory childhood cancer: case series.
Asian Biomed (Res Rev News)
August 2024
Background: The prognosis for relapsed or refractory childhood cancer is approximately 20%. Genetic alterations are one of the significant contributing factors to the prognosis of patients.
Objective: To investigate the molecular profile of relapsed or refractory childhood cancers in Thai cases.
Plectin is a cytoskeletal linker of intermediate filaments, encoded by the PLEC gene. Recently, plectin mutations have been identified in a pair of siblings with progressive familial intrahepatic cholestasis. Here, we reported two unrelated infants with plectinopathy causing cholestatic jaundice with novel variants in the PLEC gene.
View Article and Find Full Text PDFAims: Analysis of the gene helps predict the risk of developing factor VIII (FVIII) inhibitors and the depth of phenotype in haemophilia A (HA) patients. Since data in Southeast Asian countries remain scarce, we aim to study variation correlated with HA phenotypes in Thailand.
Methods: Thai patients with HA were enrolled from seven haemophilia treatment centres during 2022-2023.
Article Synopsis
- Myeloid neoplasms (MNs) now include germline predispositions as a significant category, and this study aimed to explore these genetic alterations in Thai adults with MNs.
- A cohort of 122 patients underwent deep targeted next-generation sequencing to identify pathogenic germline variants, revealing these alterations in 10% of the cases, particularly in the DNA damage response pathway.
- Findings also indicated that patients with germline mutations in secondary acute myeloid leukaemia had significantly poorer survival rates, suggesting the need for genetic testing in Southeast Asian populations similar to that conducted in Caucasians.