A5050441689- Craniofacial Disorders and Treatments
- Cleft Lip and Palate Research
- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Congenital heart defects research
- Cellular transport and secretion
- Congenital Heart Disease Studies
- Tracheal and airway disorders
- Genetic Syndromes and Imprinting
- Glycosylation and Glycoproteins Research
- Dermatological and COVID-19 studies
- Polyamine Metabolism and Applications
- Prenatal Screening and Diagnostics
- Acute Myeloid Leukemia Research
- Congenital Anomalies and Fetal Surgery
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Diabetes and associated disorders
- Hepatitis B Virus Studies
- Biochemical and Molecular Research
- Liver Disease Diagnosis and Treatment
- Williams Syndrome Research
- Ocular Disorders and Treatments
- Brucella: diagnosis, epidemiology, treatment
- Moyamoya disease diagnosis and treatment
- Connective tissue disorders research
Khon Kaen University
2008-2025
Songklanagarind Hospital
2024
Purpose: The study aimed to explore the prevalence and possible risk factors prevent face mask related adverse skin reactions during ongoing COVID-19 after a recommendation of wearing for public use in Thailand. Results: was 454 cases (54.5%), which acne most frequent (399; 39.9%), followed by rashes on (154; 18.4%), itch symptoms (130; 15.6%). Wearing surgical showed higher reaction compared cloth mask, OR (95% CI) = 1.54 (1.16-2.06). A duration more than 4 hours/day reuse masks increased...
Expanded newborn screening (NBS) programs are essential for early detection and treatment. This study highlights the implementation of an expanded NBS program inborn errors metabolism (IEMs) congenital hypothyroidism (CH) in rural Thailand, focusing on Health Regions 7 8 as a model resource-limited settings. Using KKU-IEM web-based platform, streamlined workflows, integrated logistics, real-time sample tracking, electronic data management. Regular training sessions, continuous feedback,...
Expanded newborn screening (NBS) programs are essential for early detection and treatment. This study highlights the implementation of an expanded NBS program inborn errors metabolism (IEMs) congenital hypothyroidism (CH) in rural Thailand, focusing on Health Regions 7 8 as a model resource-limited settings. Using KKU-IEM web-based platform, streamlined workflows, integrating logistics, real-time sample tracking, electronic data management. Regular training sessions, continuous feedback,...
The Health Intervention and Technology Assessment Program was commissioned to conduct a cost-utility budget impact analysis of enzyme replacement therapy (ERT) for Gaucher disease types 1 3b. findings from this assessment are support the decision-making process regarding potential expansion ERT coverage within Thailand's public health system. compared current policy, which provides treatment with imiglucerase only patients type 1, as listed in National List Essential Medicine, proposed...
Abstract Background Gaucher disease (GD) is a rare lysosomal storage disorder, characterized by hepatosplenomegaly and pancytopenia, with or without neurologic involvement. The disorder categorized into three phenotypes: GD type 1 nonneuronopathic GD; 2 acute neuronopathic 3 chronic GD. purposes of this study were to describe clinical characteristics Thai in patients diagnosed and/or followed up during 2010–2018 perform re-genotyping including analysis GBA recombinant alleles which had not...
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a rare autosomal recessive metabolic liver disease mutations in the SLC25A13 gene. This study presents three cases of NICCD Thai infants, all them exhibited cholestatic jaundice as their primary clinical presentation, with varying degrees severity. Their symptoms spontaneously resolving between 5 to 20 months age. Interestingly, citrulline levels these infants did not consistently indicate elevated seen previous...
Introduction: There are more than 6000 genetic syndromes, therefore the recognition of facial patterns may present a challenge for clinicians. The 22q11.2 deletion syndrome (22q11.2 DS) and Williams (WS) two different syndromes but share some common phenotypic traits subtle dysmorphisms. Therefore, any tool that would help clinicians recognize likely result in accurate diagnosis. Methods: identification accuracy was compared between 2 analysis algorithms (DeepGestalt GestaltMatcher)...
Sandhoff disease (SD) is an autosomal recessive lysosomal storage disorder, resulting in accumulation of GM2 ganglioside, particular neuronal cells. The disorder caused by deficiency β-hexosaminidase B (HEX-B), due to pathogenic variant human HEXB gene.This study describes clinical features, biochemical, and genetic defects among Thai patients with infantile SD during 2008-2019.Five unrelated presenting developmental regression, axial hypotonia, seizures, exaggerated startle response noise,...
Background: Classic organic acidurias, including isovaleric aciduria (IVA), propionic (PA) and methylmalonic (MMA), are rare inherited metabolic disorders caused by deficiencies of enzymes in catabolic pathways. Objective: To report clinical laboratory findings outcomes classic acidurias children north-eastern Thailand their over the past 5 years. Methods: During 2010?2014, twelve patients were identified as having confirmed urine acids analysis. Results: follows; with IVA, 4 PA, 3 MMA. Ten...
Abstract Background Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder caused by variants in any of the following genes: BCKDHA , BCKDHB, and DBT gene. Previous reports have highlighted variety common causing genes among different ethnic groups affected MSUD. This study first to describe molecular characteristics, potential variants, clinical phenotypes, treatment outcomes 20 Thai MSUD patients before implementation expanded newborn screening Thailand. Results...
Isolation and in silico characterization of full-length cinnamyl alcohol dehydrogenase gene involved lignin biosynthesis Neolamarckia cadambaBoon-Ling Tchin, Wei-Seng Ho, Shek-Ling Pang
Prader-Willi syndrome (PWS) is a multisystem genetic disorder, which has typical eating behavior and growth pattern. In the infancy period, children with PWS have low body weight followed by hyperphagia in later childhood. Disease-specific charts been recommended for monitoring patients. Previous literature demonstrated differences among individuals of different ethnicity.A retrospective multicenter study was performed patients from areas Thailand included collaboration Thai support group...
Background: 22q11.2 deletion syndrome is the most common microdeletion that leads to multisystem involvement especially cardiovascular malformations. Frequencies of this in patients with malformations are different various ethnic groups. The objective study was determine prevalence North-eastern Thai population congenital heart diseases. Methods: Medical records 359 diseases at Srinagarind Hospital 2016 were retrospective reviewed. Eighty-three evaluated for by fluorescence situ...
Background: Prader-Willi syndrome (PWS) is a complex genetic disorder with multisystem involvement. Multiple endocrinological abnormalities have been reported in PWS. However, there are limited published data on thyroid function PWS patients. This study intended to describe abnormality of