Background: Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder presenting as isolated direct hyperbilirubinemia.DJS is rarely diagnosed in the neonatal period. The purpose of this study was to clarify the clinical features of neonatal DJS and to analyze the genetic mutation of adenosine triphosphate-binding cassette subfamily C member 2 (ABCC2). Methods: From 2013 to 2018, 135 infants with neonatal cholestasis at Seoul National University Hospital were enrolled. Genetic analysis was performed by neonatal cholestasis gene panel. To clarify the characteristics of neonatal DJS, the clinical and laboratory results of 6 DJS infants and 129 infants with neonatal cholestasis from other causes were compared. Results: A total of 8 different ABCC2 variants were identified among the 12 alleles of DJS. The most common variant was p.Arg768Trp (33.4%), followed by p.Arg100Ter (16.8%). Three novel variants were identified (p.Gly693Glu, p.Thr394Arg, and p.Asn718Ser). Aspartate transaminase (AST) and alanine transaminase (ALT) levels were significantly lower in infants with DJS than in infants with neonatal cholestasis from other causes. Direct bilirubin and total bilirubin were significantly higher in the infants with DJS. Conclusions: We found three novel variants in 6 Korean infants with DJS. When AST and ALT levels are normal in infants with neonatal cholestasis, genetic analysis of ABCC2 permits an accurate diagnosis.

Background: Although most neonatal disorders are preventable, their global burden has not been comprehensively investigated in the context of underlying epidemiological patterns. Thus, here we conducted the first comprehensive assessment of the global burden of neonatal disorders and their 5 subtypes in 1990–2021 with projections through 2050.Purpose: To comprehensively assess the global burden of neonatal disorders in 1990–2021 and forecast trends through 2050 considering their significant contribution to infant mortality.Methods: We estimated the global burden of neonatal disorders (preterm birth, encephalopathy due to birth asphyxia and trauma, hemolytic disease and other neonatal jaundice types, sepsis, and other neonatal infections) and their attributable risk factors, including low birthweight, short gestation, household air pollution, and ambient particulate matter, using data from the Global Burden of Disease Study (GBD) 2021. Population attributable fractions were used to calculate the rates of age-standardized incidence (ASIR), mortality (ASMR), and disability-adjusted life years (ASDR) stratified by age, sex, sociodemographic index (SDI), and region. The disease burden forecasted through 2050 was evaluated by projection modeling using the GBD framework.Results: From 1990 to 2021, the ASIR, ASMR, and ASDR for neonatal disorders decreased: 466.94 (95% uncertainty interval, 461.65–473.62) to 437.43 (433.20–441.95), 46.06 (43.66–48.81) to 29.57 (25.37–34.26), and 4,343.25 (4,121.18–4,595.48) to 2,941.00 (2,547.76–3,384.20) per 100,000 population, respectively. Males (489.90 [484.15–495.69]) exhibited a higher rate of the age-standardized incidence for neonatal disorders. The burden of neonatal disorders was markedly higher in countries with lower SDI scores. Neonatal preterm birth is the leading cause of neonatal disorders in both sexes. Among 4 risk factors, a low birthweight contributed the most to the ASDR of neonatal disorders (2,227.54 [1,939.96–2,563.52]). The global ASDR for neonatal disorders is projected to decline from 2,022 (2,317.01 [1,982.04–2,700.43]) to 2,050 (1,230.57 [950.09–1,590.15]).Conclusion: Although the overall burden of neonatal disorders has decreased, substantial disparities have persisted across SDI levels with the highest burden observed in low-SDI countries. Among the subtypes, a preterm neonatal birth accounted for the highest burden, whereas a low birthweight was the most significant risk factor. To achieve global child health targets, it is essential to address regional disparities and promote equity in access to healthcare services and health outcomes.

Lim JG, et al. J Korean Med Sci. 2024 Oct;39:e303. https://doi.org/10.3346/jkms.2024.39.e303

The association between nonalcoholic fatty liver disease (NAFLD) and sarcopenia has been suggested. We investigated sarcopenia’s impact on NAFLD severity and its relationship with cardiometabolic risk in adolescents. We conducted a retrospective study on 122 patients aged 13–18 years and diagnosed with both NAFLD and sarcopenia by laboratory tests, abdominal ultrasound (US), and multifrequency bioelectrical impedance analysis. Sarcopenia was stratified into tertiles based on the skeletal muscle-to-fat ratio (MFR), NAFLD severity was established by the US, and cardiometabolic risk was assessed by the triglyceride–glucose (TyG) index and the atherogenic index of plasma (AIP). Compared with the other patients, those in the lower MFR tertiles exhibited a greater severity of NAFLD (p < 0.001) and significantly higher TyG index and AIP. The independent effect of MFR was observed to have a negative correlation with the severity of NAFLD (p < 0.001). Based on the aforementioned results, the degree of sarcopenia can be considered as one of the risk factors of severe NAFLD and might be an indicator of cardiometabolic risk in adolescents. Weight training to reach the amount of muscle mass could be included in the treatment strategies to improve or prevent NAFLD in adolescents with sarcopenia.

Kim TH, et al. J Korean Med Sci. 2025 Aug;40:e254. https://doi.org/10.3346/jkms.2025.40.e254

Kim TH, et al. J Korean Med Sci. 2022 Apr;37(15):e120. https://doi.org/10.3346/jkms.2022.37.e120