Case Report: A case of Dubin-Johnson syndrome in a newborn.

Background: Dubin-Johnson Syndrome (DJS) is a rare autosomal recessive genetic disorder, with most cases presenting in adolescence, but rare in newborns. Objective: To investigate the clinical characteristics and treatment outcomes of DJS in a newborn. Methods: We present the clinical features of a newborn diagnosed with DJS through molecular genetic testing. Results: The patient was a male newborn who developed jaundice and scleral icterus on the 6th day of life. Both direct and indirect bilirubin levels were elevated. After treatment with phototherapy, indirect bilirubin levels decreased, but direct bilirubin remained unchanged, and the stool color gradually lightened. At 56 days of age, the patient underwent laparoscopic cholecystostomy, which revealed viscous bile plugs in the bile ducts. Following the surgery, the patient received oral ursodeoxycholic acid, compound glycyrrhizin, and methylprednisolone. Follow-up until one year post-surgery showed a gradual reduction in direct bilirubin levels to the normal range. Molecular genetic testing revealed three heterozygous mutations in the ABCC2 gene on chromosome 10, with one pathogenic variant inherited from the father and two from the mother, confirming the diagnosis of DJS. Conclusion: DJS is a benign condition with a favorable prognosis. In newborns, it should be differentiated from other causes of cholestasis, and compared to cholestasis, jaundice in newborns with DJS responds more slowly to treatment.

Pediatric perforated appendicitis diagnosis based on the C-reactive protein/prealbumin ratio.

Pediatric perforated appendicitis, prone to multiple complications, necessitates identifying potential serum biomarkers for early diagnosis and intervention. A cross-sectional study was conducted on patients under 16 with acute appendicitis, admitted to Hainan Women and Children's Medical Center from January 2019 to July 2023. The patients were categorized into perforated and non-perforated groups. Among the 313 included patients, 106 (33.87%, 95% CI 28.59-39.14%) developed perforation. The C-reactive protein to prealbumin ratio (CPA) showed a significant difference between the perforated and non-perforated groups [6.63 (2.9-13.02) vs. 0.7 (0.11-2.18), p < 0.001]. The AUC of CPA on the ROC curve was 0.691 (95% CI 0.513-0.869, p = 0.084) in patients under 4. In patients aged 4-9, the sensitivity of CPA > 3 predicting perforation was 76.2%, with a specificity of 81.6%, and an AUC of 0.816 (95% CI 0.747-0.886, p < 0.001). For patients aged 9-16, the sensitivity of CPA > 2.2 predicting perforation was 85%, with a specificity of 85.7%, and an AUC of 0.919 (95% CI 0.859-0.979, p < 0.001). CPA > 3 and CPA > 2.2 can predict perforated appendicitis in patients aged 4-9 and 9-16, respectively.

Circ-PRMT5 stimulates the proliferative ability in Wilms' tumor through the miR-7-5p/KLF4 axis.

CircRNAs are extensively discovered in mammals and they are closely linked to tumor cell behaviors. This study aims to detect the expression pattern of circ-PRMT5 in Wilms' tumor and its ability in influencing tumor development. Circ-PRMT5 levels in Wilms' tumor samples were detected. The regulatory effect of circ-PRMT5 on proliferative ability in Wilms' tumor cells was assessed by cell counting kit-8 (CCK-8), colony formation and 5-Ethynyl-2'- deoxyuridine (EdU) assay. The interaction in the circ-PRMT5/miR-7-5p/KLF4 axis was determined by luciferase assay. Rescue experiments were conducted to reveal the role of the circ-PRMT5/miR-7-5p/KLF4 axis in Wilms' tumor development. Circ-PRMT5 was highly expressed in Wilms' tumor samples. High levels of circ-PRMT5 predicted advanced tumor staging in patients with Wilms' tumor. Knockdown of circ-PRMT5 markedly suppressed proliferative ability in Wilms' tumor cells. Luciferase assay confirmed the interaction in the circ-PRMT5/miR-7-5p/KLF4 axis. Rescue experiments finally identified that circ-PRMT5 stimulated the malignant development of Wilms' tumor by activating the miR-7-5p/KLF4 axis. Circ-PRMT5 is upregulated in Wilms' tumor samples, which is closely linked to its tumor staging. It stimulates proliferative ability in Wilms' tumor cells by activating the miR-7-5p/KLF4 axis.