OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a child with Progressive familial intrahepatic cholestasis type 8 (PFIC8). METHODS A child with PFIC diagnosed at Beijing Children's Hospital Affiliated to Capital Medical University in September 2025 was selected as the study subject. Peripheral venous blood samples were collected from the child and her parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variants were validated by Sanger sequencing. The pathogenicity of the candidate variants was classified based on the guidelines from American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of Beijing Children's Hospital Affiliated to Capital Medical University (Ethics No.: 2023-E-126-Y). RESULTS: The proband, a 2-month-old female infant, had manifested jaundice of the skin and sclera, and slightly distended abdomen. She had no visible abdominal wall varicose veins, soft abdomen, and no palpable masses. Biliary atresia was ruled out by intraoperative cholangiography. WES revealed that she has harbored compound heterozygous variants of KIF12 gene, namely c.809C>T (p.Ala270Val) and c.1313G>A (p.Arg438Lys), which were verified by Sanger sequencing to have derived from her mother and father, respectively. According to the ACMG guidelines, both variants were classified as variants of uncertain significance (VUS). Based on the pre-defined search strategy, 10 articles were retrieved, which involved 25 PFIC cases, including 5 from China. Together with the proband of this study, the 26 PFIC patients have primarily presented with high GGT cholestasis, with the genetic cause in all cases attributed to variants of the KIF12 gene. CONCLUSION The c.809C>T and c.1313G>A compound heterozygous variants of the KIF12 gene probably underlay the pathogenesis of cholestatic liver disease in this child. Above findings have enriched the mutational and phenotypic spectra of PFIC8.
Humans ; Kinesins/genetics* ; Female ; Cholestasis, Intrahepatic/genetics* ; Infant ; Heterozygote ; Mutation ; Exome Sequencing ; Male

Clinical phenotypes and gene characteristics of a patient diagnosed with Mowat-Wilson syndrome (MWS) with Hirschsprung′s disease (HSCR) and vaginal atresia in the Department of Neonatal Surgery, Beijing Children′s Hospital, Capital Medical University in March 2021 were analyzed retrospectively.The eight-month-old girl was admitted to the hospital with symptoms of constipation for nine days and abdominal distension for two days.Lower digestive tract radiography and rectal mucosa biopsy results suggested HSCR.The child also had specific facial features and motor development delay.Whole exome test showed a de novo heterozygous mutation, ZEB2 gene c. 2761C>T (p.R921*). After laparoscopic-assisted Soave procedure, the child had normal bowel movements, and no surgery-related compli-cations occurred during the follow-up period.The child′s motor development improved after rehabilitation treatment.According to literature review, 2 female cases show similar clinical manifestations to this girl, but the genotypes were different.This patient expands the clinical phenotype of ZEB2 gene pathogenicity.

Objective To evaluate the effect of human milk fortification on short‐term growth of premature infants in NICU and its clinical safety .Methods According to different formulas ,the premature infants were divided into preterm formula group ,human milk group and human milk fortification group (HMF group) .Its growth rate ,blood biochemistry ,adverse event rate and so on were compared .Results There were 147 cases meeting requirements .the weight growth velocity of preterm formula group ,human milk group and HMF group were (19 .44 ± 5 .14) ,(14 .53 ± 5 .86) ,(17 .09 ± 5 .81) g · kg -1 · d-1 respectively with statistical sig‐nificance (P<0 .01);the growth velocity of head circumference of preterm formula group (0 .72 ± 0 .34)cm/w and HMF group (0 .71 ± 0 .29) cm/w were significantly higher than that of human milk group (0 .51 ± 0 .34)cm/w (P<0 .01);the time of regaining or overtopping birth weight of preterm formula group (8 .55 ± 3 .20)d and HMF group (9 .43 ± 4 .53)d was significantly shorter than that of human milk group (10 .93 ± 3 .02)d(P<0 .01);the EUGR occurrence rate of head circumference of preterm formula group and HMF group were significantly lower than that of human milk group(P<0 .01) .The feeding intolerance rate of preterm formula group (15 .52% ) was significantly higher than that of human milk group (2 .13% ) (P<0 .05);there were no significant difference in incidence rate of infection event in each group(P>0 .05) .Conclusion Human milk fortification can control the inci‐dence rate of infection event and feeding intolerance to increase growth velocity of weight and head circumference of premature in‐fants during hospital stay .

Aim To study the effects of aspirin on increasing the atherosclerotic plaque stability and its possible mechanisms.Methods The hyperlipidemic atherosclerotic model was generated in male New Zealand rabbits given high fat diet and endothelial abrasion of abdominal aorta.These rabbits were then treated with aspirin 5～20 mg?kg-1 for 4 weeks.At experimental end,the plaques were evoked into rupture by injection of Russell's viper venom and histamine.Areas of thrombosis on atherosclerotic aorta were determined by image analysis,morphologic character of plaque rupture was examined by light microscope,the protein expression of macrophages was detected by immunohistochemistry,and the mRNA expression of COX-2 and MMP-2 was determined by hybridization in situ,respectively.Results Aspirin at doses of 5～10 mg?kg-1 was able to inhibit thrombosis on atherosclerotic plaque(P