Kanagawa Children's Medical Center

Additional calculation revisions identified during reanalysis.During the verification of the calculations, two additional issues requiring correction were identified.When calculating the tracheal Z score, gestational age was entered as completed weeks only, rather than including fractional weeks (e.g., 35+3/7 weeks instead of 35 weeks).In calculating the predicted standard deviation 2 was used instead of (/2) defined in the formula.Following correction, all NTD Z-scores and related statistical analyses were recalculated.These revisions affected the analyses involving NTD Z-scores, including group comparisons, ROC analysis, correlation analysis, and ICC assessment.However, these corrections did not influence the statistical significance of the results or the overall conclusions of the study.A comprehensive summary of all corrections is provided in the Correction Table below, including updates to:Correction to: Pediatric Cardiology h t t p s : / / d o i .o r g / 1 0 . 1 0 0 7 / s 0 0 2 4 6 -0 2 5 -0 4 1 5 3 -4 .The authors wish to correct the following errors in the above-mentioned article.The authors apologize for these errors and provide the corrected information below:1. Correction of the regression formula description An error was identified in the written description of the regression equation for the predicted normal tracheal diameter (NTD).Importantly, this transcription error was limited to the written description in the manuscript, and did not affect the statistical analyses as all analyses were conducted using the correct regression formula.As such, the calculated results and study conclusions remain unchanged.Further, this issue was independent of the additional computational revisions described below.

Omphalocele, Cloacal Exstrophy, Imperforate Anus, Spinal Defects (OEIS) complex is an extremely rare congenital disorder, and data on long-term functional and developmental outcomes remain scarce. We aimed to evaluate ambulatory, urological, and intellectual outcomes in a cohort of patients with OEIS complex. We retrospectively reviewed 10 patients with OEIS complex born at our institution between 1991 and 2021. Spinal defects were classified radiologically or intraoperatively. Ambulatory and urinary outcomes were assessed at the most recent follow-up, and intellectual status was evaluated in patients who were aged ≥ 6 years. At a mean follow-up of 114 months (range, 4-348), five patients were independently ambulatory, two were ambulatory with orthoses, and two were nonambulatory. Two patients achieved dry time with clean intermittent catheterization, while seven remained incontinent. Among seven school-aged patients, five attended regular schools, one required special education, and one could not attend due to complications. Spinal anomalies included spinal lipomas (n = 6) and terminal myelocystoceles (n = 4). In this cohort, long-term ambulatory and intellectual outcomes were generally favorable in the absence of severe complications, whereas urinary continence remained challenging. Given the rarity of OEIS complex, additional multi-institutional and multidisciplinary studies with extended follow-up are needed.

Introduction: Patient-facing websites operated by medical societies are crucial for disseminating reliable health information; however, their real-world usage and effectiveness are often unquantified. This study investigated the user engagement and demographics of "Scoliosis Town," a patient education website developed by the Japanese Scoliosis Society, to evaluate its performance.

The accurate removal of intronic sequences from pre-mRNA by the spliceosome is essential for correct gene expression, with small nuclear RNAs (snRNAs) such as U4 playing structural and regulatory roles in catalyzing this. De novo variants in the highly constrained critical region including the T-loop region of RNU4-2 have been linked to ReNU syndrome, a neurodevelopmental disorder, but the broader mutational spectrum remains uncharacterized. Here, we show that, in a cohort of unresolved cases with neurodevelopmental disorder, monoallelic and biallelic RNU4-2 variants were identified in 16 affected individuals, expanding the genetic basis beyond the critical region: 12 with de novo T-loop variants and 4 from two families with compound heterozygous variants in non-critical regions (stem II, the k-turn, and the Sm-binding site). Previously reported functional mapping by saturation genome editing confirmed that most of the variant positions in this study are highly functionally constrained. Clinically, individuals with biallelic variants exhibited developmental delay and intellectual disability that were similar to but milder than those with monoallelic variants, notably lacking extracerebral organ involvement. These results suggest that pathogenic RNU4-2 variants act in both dominant and recessive manners, and that non-critical regions may also harbor disease-causing variants. More broadly, this study underscores the diagnostic importance of non-coding RNA genes in neurodevelopmental disorders and demonstrates the need to distinguish pathogenic variants from benign ones, together with their inheritance patterns.

The PLASE score-a predictive model for subsequent patent ductus arteriosus (PDA) surgery using simple echocardiographic indices on day 3-has demonstrated strong predictive ability. To our knowledge, no predictive model for PDA surgery has undergone external validation. This study aimed to externally validate and update the PLASE score using an independent cohort. The PLASE score was applied to a validation dataset comprising infants admitted to Kanagawa Children's Medical Center between 2019 and 2024 with a gestational age of 23 to 29 weeks. Discriminative performance was assessed using the area under the receiver operating characteristic curve (ROC-AUC) and the Brier score. Calibration analysis was also conducted. The PLASE score was subsequently updated using the entire dataset. The validation cohort included 127 patients-23 who underwent PDA surgery and 104 who did not. The PLASE score exhibited good discriminative ability, with a ROC-AUC of 0.833 (95% confidence interval [CI], 0.755-0.911) and a Brier score of 0.125. After model updating, the ROC-AUC improved to 0.846 (95% CI, 0.810-0.882). The PLASE score demonstrated high predictive performance in this external validation cohort. Based on the integrated dataset, a revised model (PLASE score version 2) was developed, offering a more robust and clinically applicable tool for current neonatal care.