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OBJECTIVE: To outline the preliminary development and validation of a questionnaire for diagnosing epilepsy and distinguishing focal and generalized epilepsy among infants and children in Indonesia, where electroencephalography and pediatric neurologists are generally not available. METHODS: A 10-question questionnaire comprising of 43 items was developed through literature review and expert panel discussions. Then, the questionnaire was administered by pediatricians to 75 children aged 1 month to 18 years old presenting with >1 episode of unprovoked seizures at an interval of >24 h. Subsequently, the questionnaire was assessed for content validity with item-level and scale-level content validity indices and ratio, construct validity with item-total correlation tests, criterion validity with diagnostic parameter assessments, and inter-rater reliability using Cohen's kappa (κ) and internal consistency with Cronbach's alpha (α) coefficient. RESULTS: The questionnaire exhibited favorable internal validity and reliability in diagnosing epilepsy and distinguishing focal and generalized epilepsy, with excellent content (both indices and ratio at 1) and construct validity (rcount > rtable at p < 0.001), inter-rater reliability (κ = 0.86 and κ = 0.84), and internal consistency (α = 0.634 and α = 0.806). The questionnaire had a sensitivity and specificity of 96.4% (95%CI 89.1-99.5%) and 95.0% (79.5-99.6%) (area under the curve [AUC] 0.946 [0.900-0.992, p < 0.001]) in diagnosing epilepsy and 80.0% (57.4-95.7%) and 97.4% (89.7-99.2%) (AUC 0.889 [0.783-0.995, p < 0.001]) in distinguishing focal and generalized epilepsy, with a misdiagnosis rate of 4.0%. SIGNIFICANCE: The questionnaire shows promising potential in diagnosing epilepsy and distinguishing focal and generalized epilepsy. Further external validation studies in larger and more diverse populations are required to confirm our findings. PLAIN LANGUAGE SUMMARY: The diagnosis of epilepsy in children is challenging, particularly in resource-limited settings such as Indonesia, where advanced diagnostic tests and pediatric neurologists are scarce. The Indonesian Pediatric Epilepsy Questionnaire (INA-PEPSI) is designed to address these limitations by enabling healthcare professionals in Indonesia to diagnose epilepsy and classify its types without relying on advanced diagnostic tools. Although the questionnaire is still in the early stages of development and validation, this study demonstrates that the questionnaire exhibits good overall diagnostic performance in diagnosing epilepsy and distinguishing epilepsy types among Indonesian children.

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Background: Post-operative systemic inflammation response syndrome (SIRS) is an event that results from surgical trauma, white blood cells contact activation, and intra-surgical bacterial translocation, which is difficult to distinguish from sepsis. Presepsin is a novel biomarker that is increased since the early stages of bacterial infection and can be used to confirm the diagnosis of post-operative infectious complications. This study aimed to investigate the diagnostic performance of presepsin for post-operative infectious complications compared to other well-known biomarkers. Method: This cross-sectional study included 100 post-operative patients admitted to Cipto Mangunkusumo National Hospital and Bunda Hospital in Jakarta, Indonesia. The objective was to identify the optimal cutoff and trend of plasma presepsin concentration on the first and third day after surgery and to compare them with other biomarkers. Result: Plasma presepsin level was higher in the infection group compared to the non-infection group (median 806.5 pg/ml vs. 717 pg/ml and 980 pg/ml vs. 516 pg/ml on the first and third day, respectively). Presepsin levels tended to increase on the third post-operative day (median + 252 pg/ml) in children with infection. The opposite trend was observed in the non-infection group from the first to the third day (median -222.5 pg/ml). Presepsin delta, a three-day difference between the first and third post-operative day, had the best diagnostic performance compared to other biomarkers (Area Under the Curve 0.825). The optimal cutoff for presepsin delta to diagnose post-operative infection was +90.5 pg/ml. Conclusion: Serial assessments of presepsin levels on the first and third days post-surgery and their trends are helpful diagnostic markers for clinicians to detect post-operative infectious complications in children.

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Secondary hypertension in children, to the rare extent, can be caused by endocrine factors such as pheochromocytoma, an adrenal tumor that secretes catecholamine. Only a few cases have been reported in the past 3 decades. To the best of our knowledge, this is the first case report of pediatric pheochromocytoma from Indonesia. We reviewed a case of a 16-year-old Indonesian boy with history of silent hypertensive crisis who was referred from a remote area in an island to the pediatric nephrology clinic at Cipto Mangunkusumo Hospital, Jakarta, Indonesia. Despite medications, his symptoms persisted for 14 months. At the pediatric nephrology clinic, pheochromocytoma was suspected due to symptoms of catecholamine secretion presented, which was palpitation, diaphoresis, and weight loss. However, as the urine catecholamine test was unavailable in Indonesia, the urine sample was sent to a laboratory outside the country. The elevated level of urine metanephrine, focal pathological uptake in the right adrenal mass seen on 131I-MIBG, and histopathology examination confirmed the suspicion of pheochromocytoma. Following the tumor resection, he has been living with normal blood pressure without antihypertensive medications. This case highlights that pheochromocytoma should always be included in the differential diagnoses of any atypical presentation of hypertension. In limited resources setting, high clinical awareness of pheochromocytoma is required to facilitate prompt referral. Suspicion of pheochromocytoma should be followed by measurement of urine metanephrine levels. Early diagnosis of pheochromocytoma would fasten the optimal cure, alleviate the symptoms of catecholamine release, and reverse hypertension.

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PURPOSE: The prevalence of rickets is increasing worldwide in association with an increase in vitamin D deficiency. This study aimed to investigate the vitamin D profile of healthy school-aged children in a sun-rich country and its contributing factors. METHODS: This cross-sectional study was conducted in 120 healthy children from 7-12 years of age who live in Jakarta, Indonesia. Their demographic status, sun exposure duration time, and lifestyle were recorded using a structured questionnaire. Serum calcium, phosphate, bone-alkaline phosphatase (B-ALP), and 25-hydroxy vitamin D (25(OH)2D3) levels were measured. The participants were categorized into vitamin D sufficient and non-vitamin D sufficient groups, and we analyzed variables that contributed to the 25(OH)2D3 level. RESULTS: Of the participants, 73 (60.8%) were vitamin D sufficient, 45 (37.5%) were vitamin D insufficient, and 2 (1.7%) were vitamin D deficient. Sex, age, body mass index, Fitzpatrick skin type, daily milk intake, and clothing type were not different between the vitamin D sufficient and non-vitamin D sufficient groups. There were no differences in serum calcium, phosphate, and B-ALP between the 2 groups. Sun exposure time was significantly longer in the vitamin D sufficient group compared with that in the non-vitamin D sufficient group (511.4 min/wk vs. 318.7 min/wk, P=0.004), and this effect remained consistent on multivariate analysis after adjustment for covariates (adjusted odds ratio, 1.002; 95% confidence interval, 1.000-1.003). More participants in the vitamin D sufficient group did not use sunscreen (59 vs. 27, P=0.02), but this finding was inconsistent with our multivariate analysis. CONCLUSION: Despite year-round sun exposure, approximately 1 in 3 primary school-aged children had insufficient vitamin D level. Sun exposure duration was a major contributing factor.

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BACKGROUND: Acute kidney injury (AKI) is one of the most common causes of neonatal morbidity and mortality. Diagnosing AKI in neonates is challenging as it lacks specific signs, symptoms, and biomarkers. However, detecting AKI in critically ill neonates is crucial to determine appropriate management and prevent complications. Cystatin C (CysC) has been recognized as a superior kidney biomarker reflecting kidney function in neonates. The objective of this study is to evaluate the diagnostic value of CysC as an AKI biomarker in critically ill neonates. METHODS: We performed a diagnostic test between cystatin C-based estimated glomerular filtration rate (eGFR-CysC) and serum creatinine-based estimated glomerular filtration rate (eGFR-SCr) as the gold standard to diagnose AKI in 135 critically ill neonates treated in Cipto Mangunkusumo National Hospital from July 2017 to January 2018. RESULTS: Prevalence of AKI was 23.7% predominantly in neonates with a very preterm gestational age, low birthweight, probable sepsis, and those receiving invasive oxygen therapy or nephrotoxic drugs. The proportion of AKI based on neonate RIFLE criteria was 72.7% risk, 18.9% injury, and 9% failure. eGFR-CysC had the following parameters: sensitivity, 84.8%; specificity, 61.8%; PPV, 41.8%; NPV, 89.7%; LR(+), 2.2; LR(-), 0.24; and accuracy, 67.4%. The AUROC for CysC was 84.9%. The optimal cut-off value for CysC was 1.605 mg/l. CONCLUSIONS: CysC may be used as a screening biomarker of AKI in critically ill neonates; yet, it was not superior to serum creatinine. Graphical abstract.

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Steroid 5-alpha-reductase 2 deficiency is an autosomal recessive disorder with clinical spectrum ranges from a male phenotype with hypospadia to a female phenotype with normal wolffian structures. Over 50 different mutations of SRD5A2 gene has been described in affected patients and several mutations were detected in specific populations. DNAs of two 46,XY DSD Indonesian siblings, aged 13 and 18 years old, with clinically suspected of 5-alpha-reductase deficiency and their mother were analysed for molecular defects of SRD5A2 gene. Different from other reports, in our series three mutations were found in each patient. Two novel mutations were detected in these patients and their mother, which are p.Gly34fs and c.699-1G>T. The other mutation detected was c.680G>A or p.Arg227Gln, which commonly described in Far East Asian population. Whether the p.Arg227Gln mutation is considered a polymorphism or a mutation in Indonesian population warrants further study.

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