Objective:To analyze the clinical phenotypes and genetic characteristics of pediatric patients with neurofibromatosis type 1 (NF1).Methods:A cross-sectional study was adopted. Clinical and imaging data of 25 pediatric patients diagnosed as having NF1 in Department of Pediatric Neurology, Linyi People's Hospital Affiliated to Shandong Second Medical University from January 2024 to July 2025 were collected. Whole exome sequencing and Sanger sequencing were used to conduct genetic testing on the pediatric patients and his/her parents. Protein 3D modeling of the domestic and foreign unreported variations was conducted using SWISS-MODEL software.Results:Among the 25 pediatric patients with NF1, 14 were male (56%) and 11 were female (44%), with age ranging from 8 months to 18 years. All pediatric patients exhibited café-au-lait macules, and 7 (28%) presented with plexiform neurofibromas. Genetic test identified 4 types of NF1 variants: nonsense variant ( n=11, 44%), frameshift variant ( n=9, 36%), missense variant ( n=3, 12%), and splice-site variant ( n=2, 8%). Importantly, 5 novel NF1 variants were discovered, including c.3455T>A, c.3709dupG, c.2665_2684del, c.7092_7095delinsTA, and c.3260del. Three pediatric patients inherited NF1 variant from their parents, while the remaining 22 harbored de novo mutation. Conclusion:NF1 exhibits a broad clinical spectrum, primarily affecting the skin and nervous system; this study identifies 5 previously unreported variants, expanding the genetic profile of NF1.

Objective:To analyze the clinical phenotypes and genetic characteristics of pediatric patients with neurofibromatosis type 1 (NF1).Methods:A cross-sectional study was adopted. Clinical and imaging data of 25 pediatric patients diagnosed as having NF1 in Department of Pediatric Neurology, Linyi People's Hospital Affiliated to Shandong Second Medical University from January 2024 to July 2025 were collected. Whole exome sequencing and Sanger sequencing were used to conduct genetic testing on the pediatric patients and his/her parents. Protein 3D modeling of the domestic and foreign unreported variations was conducted using SWISS-MODEL software.Results:Among the 25 pediatric patients with NF1, 14 were male (56%) and 11 were female (44%), with age ranging from 8 months to 18 years. All pediatric patients exhibited café-au-lait macules, and 7 (28%) presented with plexiform neurofibromas. Genetic test identified 4 types of NF1 variants: nonsense variant ( n=11, 44%), frameshift variant ( n=9, 36%), missense variant ( n=3, 12%), and splice-site variant ( n=2, 8%). Importantly, 5 novel NF1 variants were discovered, including c.3455T>A, c.3709dupG, c.2665_2684del, c.7092_7095delinsTA, and c.3260del. Three pediatric patients inherited NF1 variant from their parents, while the remaining 22 harbored de novo mutation. Conclusion:NF1 exhibits a broad clinical spectrum, primarily affecting the skin and nervous system; this study identifies 5 previously unreported variants, expanding the genetic profile of NF1.

Objective To investigate the strategies in dealing with intraoperative CO2 embolizm during Laparoscopic hepatectomy (LH).Methods We collected and analyzed data from patients who underwent laparoscopic hepatectomy (LH) in our hospital from Jan.2013 to Aug.2017.There were 321 patients.The criteria for the diagnosis of CO2 embolism were rapid intraoperative decrease in petCO2 and SPO2 accompanied with tachyarrhythmia.Results 12 patients were diagnosed to have CO2 embolism.The rate was 3.7％.For these 12 patients,10 patients were dealt with laparoscopically and 2 patients were converted to open surgery.Conclusion CO2 embolism did not rarely occur in LH patients.Sophisticated operations and careful manipulation in LH are the only ways to prevent CO2 embolism.

Objective To explore the genetic variation in children patients with esophageal atresia (EA ) to provide a prophase basis for further studying EA pathogenesis .Methods Ten children cases of EA were collected from the neonatal surgery department of our hospital .The high-throughput whole-exon sequencing was used to study the genetic variations ,and their clinical significance was analyzed by the bioinformatics methods .Results In the high quality sequencing data ,the effective clean reads accounted for 85 .36% ,in which 97% of the clean reads could participate in the comparison with the reference genes .The comparison analysis obtained 520541 single nucleotide polymorphism sites ,in which single nucleotide variation(SNV) occurred at 149622 sites ,including synonymous mutation ,nonsynonymous mutation ,stop codon gain ,stop codon loss ,frameshift insertion ,nonframeshift insertion ,unknown mutation ;meanwhile ,598 copy number variation genes were detected .The functional cluster analysis revealed that the mutant genes were closely related to cell biology .Conclusion The SNV occurrence may influence the expression and function of body various proteins and may play an important role in EA pathogenesis .

Objective To quantitatively analyze the early warning value of laboratory indexes for death risk in children with criti ‐cal hand foot and mouth disease (HFMD) .Methods The univariate and multivariate Logistic regression analysis were conducted to explore the independent risk factors of death in critical HFMD children .Then the area under receiver operating characteristic curve (AUC) was applied to give the comprehensive assessment of the test model ,as well as the early warning capacity and the optimal cut‐off level of laboratory indexes in critical HFMD children .Results The AUC of the Logistic regression model (Y ) established based on white blood cell ,neutrophil ,myoglobin ,creatinine for early predicting the death risk in critical HFMD children patients was 0 .847 (95% CI :0 .783 - 0 .911) ,which indicating that its diagnostic value was superior to single index .Conclusion The diag‐nostic value of the Y model established based on four indexes of white blood cell count ,neutrophile granulocytes count ,myohemo‐globin and creatinine is superior to any single index ,which has the better early warning value for the death risk in children with crit‐ical HFMD .

Objective:To study the biting force of upper premolar and molar in the patients with unilateral cleft lip and palate(UCLP).Method:25 health people and 22 cases (13 male and 9 female with pemanent teeth) of UCLP without tempromandibular joint dysfuction were selected in the subject.Their biting force of upper premolar and molar in intercaspid position was tested by MBF 1 device,meanwhile,their mastictory perfomance and contact area of upper premolar and molar were checked.All of the results were managed by computer with SPSS 7.5 statistics software.Results:①Biting force of upper premolar and molar of male was higher than that of female in health people,but there was no sexual difference in UCLP.② Biting force in the group of UCLP was lower than that in the control (P