Background: Whether portal venous gas (PVG) is a sign of severe neonatal necrotizing enterocolitis (NEC) and predicts poor prognosis remains uncertain. Methods: Patients from two centres were randomly assigned to a training set or a validation set. A nomogram model for predicting severe NEC was developed on the basis of the independent risk factors selected by least absolute shrinkage and selection operator (LASSO) regression analysis and multivariate logistic regression analysis. The model was evaluated based on the area under the curve (AUC), calibration curve, and decision curve analysis (DCA). Results: A total of 585 patients met the study criteria, and propensity score matching resulted in 141 matched pairs for further analysis. Patients with PVG had a greater risk of surgical intervention or death compared with patients without PVG. A prediction model for severe NEC was established based on PVG, invasive mechanical ventilation (IMV), serum platelet count (PLT) and pH 0.8. The calibration curve and DCA suggested that the nomogram model had good performance for clinical application. Conclusion: A prediction nomogram model based on PVG and other risk factors can help physicians identify severe NEC early and develop reasonable treatment plans. Impact: PVG is an important and common imaging manifestation of NEC. Controversy exists regarding whether PVG is an indication for surgical intervention and predicts poor prognosis. Our study suggested that patients with PVG had a greater risk of surgical intervention or death compared with patients without PVG. PVG, IMV, PLT and pH <7.35 at the onset of NEC are independent risk factors for severe NEC. A prediction nomogram model based on PVG and other risk factors may help physicians identify severe NEC early and develop reasonable treatment plans.

Purpose: ROR2, a member of the ROR family, is essential for skeletal development as a receptor of Wnt5a. The present study aims to investigate the mutational spectrum of ROR2 in children with short stature and to identify the underlying molecular mechanisms.Methods: We retrospectively analyzed clinical phenotype and whole-exome sequencing (WES) data of 426 patients with short stature through mutation screening of ROR2. We subsequently examined the changes in protein expression and subcellular location in ROR2 caused by the mutations. The mRNA expression of downstream signaling molecules of the Wnt5a–ROR2 pathway was also examined.Results: We identified 12 mutations in ROR2 in 21 patients, including 10 missense, one nonsense, and one frameshift. Among all missense variants, four recurrent missense variants [c.1675G > A(p.Gly559Ser), c.2212C > T(p.Arg738Cys), c.1930G > A(p.Asp644Asn), c.2117G > A(p.Arg706Gln)] were analyzed by experiments in vitro. The c.1675G > A mutation significantly altered the expression and the cellular localization of the ROR2 protein. The c.1675G > A mutation also caused a significantly decreased expression of c-Jun. In contrast, other missense variants did not confer any disruptive effect on the biological functions of ROR2.Conclusion: We expanded the mutational spectrum of ROR2 in patients with short stature. Functional experiments potentially revealed a novel molecular mechanism that the c.1675G > A mutation in ROR2 might affect the expression of downstream Wnt5a–ROR2 pathway gene by disturbing the subcellular localization and expression of the protein.

Intraamniotic infection is associated with an increased risk of multiple adverse outcomes in offspring, especially neonatal necrotizing enterocolitis (NEC), which is one of the serious gastrointest...

Thoracic aortic aneurysm/dissection (TAAD) and patent ductus arteriosus (PDA) are serious autosomal-dominant diseases affecting the cardiovascular system. They are mainly caused by variants in the MYH11 gene, which encodes the heavy chain of myosin 11. The aim of this study was to evaluate the genotype–phenotype correlation of MYH11 from a distinctive perspective based on a pair of monozygotic twins. The detailed phenotypic characteristics of the monozygotic twins from the early fetal stage to the infancy stage were traced and compared with each other and with those of previously documented cases. Whole-exome and Sanger sequencing techniques were used to identify and validate the candidate variants, facilitating the analysis of the genotype–phenotype correlation of MYH11. The monozygotic twins were premature and presented with PDA, pulmonary hypoplasia, and pulmonary hypertension. The proband developed heart and brain abnormalities during the fetal stage and died at 18 days after birth, whereas his sibling was discharged after being cured and developed normally post follow-up. A novel variant c.766 A > G p. (Ile256Val) in MYH11 (NM_002474.2) was identified in the monozygotic twins and classified as a likely pathogenic variant according to the American College of Medical Genetics/Association for Molecular Pathology guidelines. Reviewing the reported cases (n = 102) showed that the penetrance of MYH11 was 82.35%, and the most common feature was TAAD (41.18%), followed by PDA (22.55%), compound TAAD and PDA (9.80%), and other vascular abnormalities (8.82%). The constituent ratios of null variants among the cases with TAAD (8.60%), PDA (43.8%), or compound TAAD and PDA (28.6%) were significantly different (P = 0.01). Further pairwise comparison of the ratios among these groups showed that there were significant differences between the TAAD and PDA groups (P = 0.006). This study expands the mutational spectrum of MYH11 and provides new insights into the genotype–phenotype correlation of MYH11 based on the monozygotic twins with variable clinical features and outcomes, indicating that cryptic modifiers and complex mechanisms beside the genetic variants may be involved in the condition.

To identify risk factors associated with the necessity of bronchoalveolar lavage (BAL) in children with Mycoplasma pneumoniae pneumonia (MPP) and pulmonary consolidation, and to develop and validate a predictive model to support clinical decision-making. A retrospective study was conducted on 323 children diagnosed with MPP and pulmonary consolidation at our hospital from September 2020 to October 2023. Patients were divided into BAL group (n = 163) and non-BAL group (n = 160). Clinical data, laboratory findings, and imaging features (including quantified pulmonary consolidation volume) were collected. Univariate and multivariate logistic regression analyses were employed to identify independent predictors for BAL intervention. A nomogram was constructed based on significant factors. The model’s performance was assessed using the receiver operating characteristic (ROC) curve, concordance index (C-index), calibration plot, and internal validation via bootstrap resampling. Multivariate logistic regression identified lung atelectasis, older age, greater pulmonary consolidation volume (percentage of total lung volume), and longer hospital stay as independent risk factors for BAL. Corticosteroid treatment emerged as a protective factor. The nomogram developed from these variables yielded an area under the ROC curve (AUC) of 0.87 (95% CI: 0.83–0.91), with good calibration. Internal validation confirmed the robustness of the model. Lung atelectasis, pulmonary consolidation extent, length of hospitalization, age, and corticosteroid therapy are key determinants for BAL necessity in MPP children with consolidation. The proposed nomogram demonstrates strong discrimination, calibration, and clinical applicability, facilitating personalized evaluation of BAL indication.