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Genetic and Environmental Influences on Autism Spectrum Disorder: A Multi-Center Study Exploring Gene-Environment Interactions and Biomarkers in Indonesia Vita Amanda; Rashidah Unaib Al-Zayid; Winata Putri; Sonya Syarifah; Tiffany Gabriele; Leonardo Simanjuntak; Cinthya Callathea
Sriwijaya Journal of Neurology Vol. 1 No. 2 (2023): Sriwijaya Journal of Neurology
Publisher : Phlox Institute: Indonesian Medical Research Organization

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.59345/sjn.v1i1.30

Abstract

Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental condition with a complex etiology involving genetic and environmental factors. This multi-center study investigated gene-environment interactions and potential biomarkers associated with ASD in the Indonesian population. Methods: Children diagnosed with ASD (n=500) and age-matched typically developing controls (n=500) were recruited across five major Indonesian cities. Whole-exome sequencing targeted genotyping, and environmental risk factor assessments were conducted. Biomarker analyses included cytokine levels, oxidative stress markers, and neurotransmitters. Results: Genetic analysis revealed both rare and common variants associated with ASD risk, including variants in CHD8, SCN2A, NRXN1, and novel genes. Prenatal exposures (maternal medication use, infections), perinatal complications (preterm birth, low birth weight), and postnatal factors (pesticide exposure, air pollution) were associated with increased ASD risk. Children with ASD exhibited elevated inflammatory markers (TNF-α, IL-6, IL-1β), increased oxidative stress (higher MDA, lower GSH), and altered neurotransmitter levels (lower serotonin and dopamine) compared to controls. Conclusion: This study provides insights into the interplay of genetic and environmental factors contributing to ASD risk in Indonesia. The identified genetic variants, environmental risk factors, and potential biomarkers may contribute to our understanding of ASD etiology and inform the development of targeted interventions and early detection strategies.
Knowledge, Attitudes, and Practices Regarding Contraception Among Young Women in Urban Indonesia: A Mixed-Methods Approach Hidayat, Rachmat; Cinthya Callathea; Taufiq Indera Jayadi; Maximillian Wilson
Sriwijaya Journal of Obstetrics and Gynecology Vol. 2 No. 1 (2024): Sriwijaya Journal of Obstetrics and Gynecology
Publisher : Phlox Institute: Indonesian Medical Research Organization

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.59345/sjog.v1i2.95

Abstract

Introduction: Unintended pregnancies and unsafe abortions remain significant public health concerns in Indonesia, particularly among young women in urban areas. This study aimed to explore the knowledge, attitudes, and practices (KAP) regarding contraception among young women residing in urban Indonesia, employing a mixed-methods approach to gain an in-depth understanding of this complex issue. Methods: This study used a sequential explanatory mixed-methods design. The quantitative phase involved a cross-sectional survey of 500 young women aged 18-24 years residing in Jakarta, Indonesia. A structured questionnaire assessed their knowledge about various contraceptive methods, attitudes towards contraception, and current contraceptive practices. The qualitative phase comprised in-depth interviews with 30 participants purposively selected from the survey sample to explore their experiences, beliefs, and perspectives on contraceptive use. Quantitative data were analyzed using descriptive statistics and logistic regression, while thematic analysis was employed for qualitative data. Results: The quantitative findings revealed that while the majority of participants had good knowledge about contraception, misconceptions and gaps existed regarding specific methods, particularly long-acting reversible contraceptives (LARCs). Attitudes towards contraception were generally positive, although concerns about side effects and social stigma were prevalent. The prevalence of current contraceptive use was moderate, with condoms and oral contraceptive pills being the most common methods. Qualitative findings provided deeper insights into the factors influencing contraceptive use, including perceived susceptibility to pregnancy, partner communication, family and social influences, access to healthcare services, and religious beliefs. Conclusion: This study highlights the need for comprehensive sexuality education programs tailored to address misconceptions and promote informed decision-making about contraception among young women in urban Indonesia. Strategies to improve access to youth-friendly contraceptive services and address social and cultural barriers to contraceptive use are also essential.
Cardiovascular Risk Stratification in Pregnant Women with Gestational Diabetes: A Comparative Analysis of Predictive Models in Padang, Indonesia Cinthya Callathea; Vania Delma; Muhammad Rusli; Bjorka Alma; Rinna Azrida
Sriwijaya Journal of Internal Medicine Vol. 3 No. 1 (2025): Sriwijaya Journal of Internal Medicine
Publisher : Phlox Institute: Indonesian Medical Research Organization

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.59345/sjim.v2i2.177

Abstract

Introduction: Gestational diabetes mellitus (GDM) significantly increases the risk of both short-term and long-term cardiovascular disease (CVD) in women. Effective risk stratification during pregnancy is crucial for targeted interventions. This study aimed to compare the performance of established cardiovascular risk prediction models in a cohort of pregnant women with GDM in Padang, Indonesia. Methods: A prospective cohort study was conducted involving 350 pregnant women diagnosed with GDM at two major hospitals in Padang, Indonesia, between January 2022 and June 2023. Baseline demographic, clinical, and laboratory data were collected. Three established CVD risk prediction models – the Framingham Risk Score (FRS), the American College of Cardiology/American Heart Association (ACC/AHA) Pooled Cohort Equations (PCE), and a modified version of the PCE adapted for GDM (PCE-GDM) – were applied to calculate individual 10-year CVD risk scores. The primary outcome was the development of any major adverse cardiovascular event (MACE), defined as myocardial infarction, stroke, or cardiovascular death, or new-onset hypertension requiring medication, within one year postpartum. Model performance was assessed using discrimination (c-statistic) and calibration (Hosmer-Lemeshow goodness-of-fit test). Results: The mean age of participants was 32.4 ± 5.1 years. The prevalence of pre-existing hypertension was 8.6%, and the mean pre-pregnancy BMI was 28.5 ± 4.7 kg/m². During the one-year follow-up, 25 (7.1%) women experienced a MACE. The PCE-GDM model demonstrated the best discrimination (c-statistic = 0.82, 95% CI 0.76-0.88), followed by the PCE (c-statistic = 0.75, 95% CI 0.68-0.82), and the FRS (c-statistic = 0.68, 95% CI 0.60-0.76). The PCE-GDM also showed good calibration (χ² = 8.3, p = 0.41), while the FRS and PCE tended to underestimate risk (χ² = 18.5, p = 0.02 and χ² = 15.2, p = 0.06, respectively). Conclusion: The PCE-GDM model, specifically adapted for GDM, showed superior performance in predicting short-term cardiovascular risk compared to traditional models in this Indonesian cohort. These findings highlight the need for GDM-specific risk stratification tools to improve cardiovascular risk management in this vulnerable population.