Queen Sirikit National Institute of Child Health

Dengue severity prediction models are usually developed using hospitalized patient data, but triage and hospital admission are mainly evaluated in outpatient settings. This study developed models using clinical and laboratory data from patients in outpatient settings during the febrile phase. Data from two cohort studies in Vietnam and Thailand were used to develop and validate six models: logistic regression with warning signs, Lasso-selected logistic regression, random forest, extreme gradient boosted classification, support vector machine, and artificial neural network. Models predicted dengue shock syndrome (DSS) as the primary endpoint and moderate plasma leakage and/or DSS as the secondary endpoint. We assessed model performance, discrimination, and calibration, using sensitivity, specificity, accuracy, Brier score, AUROC, CITL, calibration slope, calibration plots, and decision curve analysis. The optimal model was the Lasso-selected logistic regression for predicting DSS and the combined endpoint of moderate plasma leakage and/or DSS (Brier score: 0.044 [95% CI 0.043, 0.044] and 0.104 [95% CI 0.104, 0.105]; AUROC: 0.789 [95% CI 0.787, 0.791] and 0.741 [95% CI 0.740, 0.742]). We identified hematocrit, platelet count, lymphocyte count, and aspartate aminotransferase as predictors for DSS, and abdominal pain or tenderness, vomiting, mucosal bleeding, white blood cell count, lymphocyte count, platelet count, aspartate aminotransferase, and serum albumin as predictors for the secondary endpoint. Logistic regression and machine learning models using clinical and laboratory data during the febrile phase can support early prediction of severe disease in outpatient settings. Integrating risk prediction models into a decision support system could improve triage and optimize healthcare and resource allocation in endemic and resource-limited areas.

OBJECTIVES:Thailand expanded metabolic newborn screening (NBS) program to include inherited metabolic diseases (IMDs) using tandem mass spectrometry since 2022. Molecular testing has increasingly been used as a second-tier tool to clarify ambiguous results or confirm diagnosis for abnormal metabolic NBS screening. This study aimed to assess the performance of whole genome sequencing (WGS) as a second-tier test for abnormal IMD screening results in Thai neonates. DESIGN AND METHODS:From August 2023 to December 2024, neonates with abnormal IMD screens were recruited for WGS, in addition to the routine biochemical confirmation. RESULTS:Seventy-four newborns and 27 mothers were included in the study. Biochemical testing confirmed 40 IMDs, 12 borderline, and 21 normal cases, while WGS identified 3 additional IMDs and 8 carriers. Among 73 newborns, WGS identified 41 IMD cases and 32 normal (22 carriers), achieving 95% sensitivity, 100% specificity, 100% positive predictive value, and 97% negative predictive value. WGS refined disease subtypes, resolved borderline amino acid abnormalities, and guided individualized management. Limitations included missed large structural variants and lower sensitivity for detecting single heterozygous variants, emphasizing that molecular testing complements rather than replaces biochemical confirmation. CONCLUSIONS:WGS as a second-tier test enhances diagnostic precision, clarifies ambiguous NBS results, supports early, targeted intervention, and precision care in Thai newborns.

Genetic variants in WDR19 cause ciliopathies with craniofacial and ectodermal features, including dental and retinal anomalies. This study characterized the clinical and molecular features of patients with isolated dental anomalies harboring WDR19 variants. Clinical and radiographic evaluations and whole-exome sequencing were performed in 365 patients with dental and/or retinal anomalies. Immunohistochemical analysis of Wdr19 expression during mouse odontogenesis and structural modeling of mutant proteins were conducted. Five rare and three novel WDR19 variants were identified in 15 patients. Dental anomalies included tooth agenesis, mesiodens, and root maldevelopment. Autoimmune retinopathy was observed in two patients. Wdr19 was broadly expressed in developing tooth epithelium, Hertwig epithelial root sheath, retina, and epidermis. Structural modeling of WDR19 protein showed that the variants clustered within β-propeller and α-helical regions and were predicted to disrupt protein interactions or stability. The rarity of the identified variants, their localization within functionally important WDR19 domains, and their occurrence in multiple unrelated individuals with overlapping dental and retinal phenotypes support WDR19 as a candidate contributory gene. Wdr19 expression in odontogenic and retinal tissues, together with structural modeling predicting altered protein stability or interactions, further supports the biological plausibility of this association.

OBJECTIVES:Global information on the costs of the autism spectrum disorder (ASD) diagnostic process is limited. No previous research has been conducted in Thailand. This study aimed to determine the societal costs of the ASD diagnostic process after the patients visited 7 tertiary hospitals in the Northern, Central, Northeast, and Southern regions of Thailand. METHODS:A total of 155 children diagnosed with ASD were included from January to December 2022. The societal costs consisted of the patient costs, and service provider costs. Government reimbursement and labor costs were also evaluated. The patient perspective costs were calculated from direct nonmedical costs plus nonreimbursable direct medical costs. Direct nonmedical costs were collected by parent questionnaires. Nonreimbursable direct medical costs and the government reimbursement were acquired from each hospital's financial database. Service provider perspective costs were gathered from the Human Resources Unit hospital database. RESULTS:The median of societal, service provider, patient, labor costs, and government reimbursement for the ASD diagnostic process were 3578.6 (2433.7-5412.8), 259.5 (259.5-314.7), 3319.0 (2169.0-5138.1), 559.6 (488.8-795.6), and 200 (0-300) Thai Bahts (THB)/child, respectively. The caregiver productivity loss was the largest proportion among the total patient perspective costs. The median societal costs by region sorted by descending order were Northeast, Central, North, and South, which were 5197.6 (3248.5-6802.3), 3578.6 (2688.8-5412.8), 3028.6 (2286.7-4905.7), and 2198.9 (1686.8-3483.9) THB/child, respectively. CONCLUSION:The societal costs of the ASD diagnostic process were 3578.6 THB/child. The Northeast region demonstrated the highest costs. The caregiver productivity loss was the largest proportion of the total societal costs.

Healthcare personnel are often the first line of defense against emerging diseases. Enhancing knowledge on influenza for healthcare personnel is part of Thailand’s influenza pandemic preparedness plan. Beginning in 2007, the Thailand Department of Medical Services organized trainings for Thai healthcare personnel in Bangkok and all regions of Thailand on prevention, diagnosis, treatment, and control of human seasonal, avian, and pandemic influenza. The curriculum included overviews on the global situation, clinical features and treatment, influenza epidemiology and burden in Thailand, influenza as a cause of pneumonia, laboratory diagnostics, impact of influenza in high-risk populations and increased risk for complications; influenza economic evaluation of seasonal influenza vaccination in Thailand, and immunization and planning for human influenza outbreaks. Topics initially focused on seasonal and pandemic influenza and expanded in scope to incorporate other pandemic threats, such as MERS-CoV and COVID-19. From August 2007 through December 2024, 114 trainings were conducted. A total of 26,422 attendees (range 10–700 per training) were trained, including clinicians, nurses, pharmacists, laboratory technicians, and public health scientists (professionals trained in epidemiology, disease surveillance, and health data analysis) from public and private hospitals from national, regional, provincial, and district levels in Bangkok and 41 provinces nationwide. During training sessions, participants reported that the program increased their readiness and self-reported confidence to respond to potential respiratory outbreaks. These capacity-building efforts contributed to a health workforce that was better positioned to respond to emerging respiratory threats, including the first wave of COVID-19. Educating healthcare personnel about prevention, diagnosis, treatment, and control of influenza is an important component of pandemic preparedness. Refresher courses or online tutorials may be needed periodically to maintain current knowledge.