Browsing by Author "Suwanlikit Y."

Filter results by typing the first few letters
Now showing 1 - 3 of 3
  • No Thumbnail Available
    ItemMetadata only
    Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis
    (2025-01-24) Suwanlikit Y.; Panthan B.; Chitayanan P.; Klumsathian S.; Charoenyingwattana A.; Chantratita W.; Trachoo O.; Suwanlikit Y.; Mahidol University
    BACKGROUND: Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD CAH) is an autosomal recessive disorder resulting from pathogenic variants in the CYP21A2 gene. The disorder exhibits variable clinical severity, with the classical form manifesting as salt-wasting crisis in neonates, while inducing ambiguous genitalia in females and precocious puberty in males through simple virilization. Identifying at-risk couples during the preconception stage holds significance for optimizing reproductive choices. METHODS: This study included 204 unrelated preconception individuals undergoing carrier screening. A robust molecular approach was devised for rapid detection of nine prevalent CYP21A2 pathogenic variants, utilizing Amplification-Refractory Mutation System (ARMS) PCR and mass spectrometry (MS) genotyping. Complementary quantitative real-time PCR (qPCR) and PCR-based Restriction Fragment Length Polymorphism (PCR-based RFLP) assays were employed for comprehensive gene deletion analysis. The concordance of pathogenic variant detection between ARMS-PCR and MS, as well as the consistency observed in molecular insights from qPCR and PCR-based RFLP, fortified the accuracy of our methodologies. RESULTS: Our combined method could detect common pathogenic variants and large gene deletions with high concordance between ARMS-PCR, MS genotyping, qPCR, and PCR-based RFLP assays. Remarkably, two carriers exhibited significant large-scale deletions, while another manifested a carrier state due to minor-scale gene conversion. The estimated carrier frequency in our cohort using these methods was approximately 1 in 65 individuals. CONCLUSIONS: The methods used for 21-OHD CAH carrier screening offer a reliable, swift, and cost-effective approach for detecting common pathogenic variants and large deletions. Despite some limitations, such as the inability to detect all rare mutations, the techniques provide a practical solution for carrier screening, with an estimated carrier frequency of 1 in 65 in our study population. These findings support the potential adoption of these methods in national carrier screening programs, offering a practical balance between efficiency and affordability.
  • No Thumbnail Available
    ItemUnknown
    Prevalence of Depression and Suicidal Thoughts in Thai Older Adults Attending a Geriatric Clinic during the COVID-19 Pandemic: A Cross-Sectional Survey
    (2025-11-01) Siramongkholkarn S.; Thanapluetiwong S.; Chansirikarnjana S.; Suwanlikit Y.; Jun L.W.; Ittasakul P.; Siramongkholkarn S.; Mahidol University
    Objective: To examine the prevalence of depression and suicidal thoughts, and their associated factors, among Thai older adults during the COVID-19 pandemic. Materials and Methods: A cross-sectional telephone survey was conducted between June 20 and July 25, 2021, targeting patients aged 60 years and older who attended a tertiary-care geriatric clinic at Ramathibodi Hospital within the past two years. The Thai version of the Patient Health Questionnaire-9 (PHQ-9) was used to assess depression levels, with the ninth item specifically evaluating suicidal risk. Demographic and clinical data were collected through structured interviews. Data was analyzed using Wilcoxon rank-sum tests, multiple linear regression, and ordered logistic regression models. Results: Out of 283 individuals, 271 with complete data were included in the analysis. The participants median age was 73 years and 71.6% were female. The prevalence of depression was 14.1%, with 11.9% experiencing mild depression and 2.2% moderate depression. No participants had severe depression. Suicidal thoughts were reported by 1.5% of the participants. Linear regression analysis showed that a higher number of hospitalizations (B=0.75, 95% CI 0.18 to 1.3, p=0.010) and a history of musculoskeletal disease (B=0.81, 95% CI 0.24 to 1.4, p=0.006) were associated with higher PHQ-9 scores. Consistently, logistic regression indicated that hospitalizations (OR 2.91, 95% CI 1.23 to 6.87, p=0.015) and musculoskeletal disease (OR 3.38, 95% CI 1.14 to 10.0, p=0.028) were significant predictors of depressive symptoms. Conclusion: During the COVID-19 pandemic, addressing depression and suicidal risk has emerged as a critical clinical concern, particularly among older adults. Clinicians must prioritize mental health care for older adults, with special attention to those with high rates of hospital admissions and musculoskeletal complaints.
  • No Thumbnail Available
    ItemMetadata only
    Promises of reprogramming-induced rejuvenation
    (2026-08-01) Simpson D.J.; Arif N.; Suwanlikit Y.; Kirschner K.; Chandra T.; Simpson D.J.; Mahidol University
    Reprogramming-induced rejuvenation (RIR) reverses cellular aging by transiently engaging early reprogramming states without full dedifferentiation. This review examines current developments in the molecular mechanisms, technological advances, and tissue-specific applications of RIR. Recent mechanistic insights highlight persisting questions in timing, heterogeneity, and pathways engaged in the epigenetic response. New technological advances have expanded RIR modalities beyond traditional Yamanaka factors to include mRNA-based delivery, CRISPRa, and chemical cocktails, while high-throughput screening platforms are systematically identifying novel rejuvenation factors with improved safety profiles. Recent tissue-specific applications demonstrate functional restoration across brain, liver, intestine, cardiovascular, and epithelial systems through reversal of cellular senescence, reduction of DNA damage and epigenetic age, and enhanced regenerative capacity. However, clinical translation faces challenges including narrow therapeutic windows, incomplete mechanistic understanding, and limited biomarker standardization. We discuss how single-cell technologies, computational prediction tools, and systematic in vivo testing may advance RIR toward geroscience therapies for age-related diseases.