Objective:To explore the clinical features and genetic characteristics of three patients with Infantile liver failure syndrome type 2 (ILFS2).Methods:Three children who were diagnosed with ILFS2 at the Children′s Hospital Affiliated to Zhengzhou University from February 2023 to February 2024 were selected as the study subjects. Clinical data of the children were collected. Peripheral blood samples of the children and their parents were collected and subjected to whole exome sequencing (WES). Candidate variants of the NBAS gene were verified by Sanger sequencing. This study was approved by the Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2024-k-069). Results:The three children had presented with fever-triggered recurrent acute liver failure. All of them were found to harbor compound heterozygous variants of the NBAS gene, including c. 3596G>A and c.1181A>T in child 1, c.2617C>T and c. 2T>C in child 2, and c. 3596G>A and c. 2817_2818insT in child 3. Among these, the c. 1181A>T and c. 2817_2818insT variants were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively classified as variants of uncertain significance (PM2_Supporting+ PM3+ PP3) and pathogenic (PVS1+ PM2_Supporting+ PM3). Conclusion:Combined with the patient′s clinical phenotype, the compound heterozygous variants of the NBAS gene probably underlay the pathogenesis of ILFS2 in the three children. For children with fever-related acute liver failure of unknown causes, the possibility of this disease should be suspected, and genetic testing may facilitate the diagnosis. Early diagnosis and timely intervention can significantly improve the prognosis. Discoveries of the c. 1181A>T and c. 2817_2818insT variants have enriched the mutational spectrum of the NBAS gene.

OBJECTIVE: To explore the clinical features and genetic characteristics of three patients with Infantile liver failure syndrome type 2 (ILFS2). METHODS: Three children who were diagnosed with ILFS2 at the Children's Hospital Affiliated to Zhengzhou University from February 2023 to February 2024 were selected as the study subjects. Clinical data of the children were collected. Peripheral blood samples of the children and their parents were collected and subjected to whole exome sequencing (WES). Candidate variants of the NBAS gene were verified by Sanger sequencing. This study was approved by the Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2024-k-069). RESULTS: The three children had presented with fever-triggered recurrent acute liver failure. All of them were found to harbor compound heterozygous variants of the NBAS gene, including c.3596G>A and c.1181A>T in child 1, c.2617C>T and c.2T>C in child 2, and c.3596G>A and c.2817_2818insT in child 3. Among these, the c.1181A>T and c.2817_2818insT variants were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively classified as variants of uncertain significance (PM2_Supporting+PM3+PP3) and pathogenic (PVS1+PM2_Supporting+PM3). CONCLUSION Combined with the patient's clinical phenotype, the compound heterozygous variants of the NBAS gene probably underlay the pathogenesis of ILFS2 in the three children. For children with fever-related acute liver failure of unknown causes, the possibility of this disease should be suspected, and genetic testing may facilitate the diagnosis. Early diagnosis and timely intervention can significantly improve the prognosis. Discoveries of the c.1181A>T and c.2817_2818insT variants have enriched the mutational spectrum of the NBAS gene.
Humans ; Exome Sequencing ; Genetic Testing/methods* ; Liver Failure, Acute/etiology* ; Mutation ; Child ; Adult ; Neoplasm Proteins

Systemic lupus erythematosus（SLE）is an autoimmune disease affecting multiple organs and systems，and acute pancreatitis（AP）is a rare，life-threatening complication of SLE.Early manifestations of pediatric SLE-related acute pancreatitis（SLEAP）lack specificity，which is easy to be misdiagnosed and missed，difficult to treat and poor in prognosis.Understanding the pathogenesis，clinical characteristics，diagnosis and treatment of pediatric SLEAP is of great significance to control the disease and improve the prognosis.This article reviews the latest research progress of pediatric SLEAP，in order to help pediatricians in the diagnosis and treatment of pediatric SLEAP.

Objective:To investigate the clinical characteristics and risk factors for recurrence of perianal abscess in children.Methods:A retrospective study was conducted on the clinical data of 161 children with perianal abscess who were hospitalized in the Children's Hospital affiliated to Zhengzhou University from January 2015 to December 2022.Based on whether or not recurrence occurred after treatment，the patients were divided into the recurrence group(58 cases) and the simple group(103 cases).The clinical manifestations，laboratory examination indexes，and recurrence risk factors of children with perianal abscess were analyzed.Results:The effective rate of treatment for 161 children with perianal abscess was 64.0% (103/161),and 58 cases had recurrent abscess or fistula formation.The main orientations of the lesions were at the 3 o'clock position in 62 cases (38.5%) and at the 9 o'clock position in 67 cases (41.6%) in the lithotomy site.Bacterial culture of drainage fluid from perianal abscesses was positive in 61 (37.9%) children and the pathogens were Klebsiella pneumoniae in 48 cases,Staphylococcus aureus in 7 cases and Escherichia coli in 6 cases.The recurrence group mainly had underlying diseases including 38 cases of Crohn's disease，15 cases of chronic diarrhoea，and 5 cases of immunodeficiency,while the simple group had 3 cases of Crohn's disease，36 cases of chronic diarrhoea，and 2 cases of immunodeficiency，with 62 cases（60.1%）had no underlying diseases.The recurrence group showed significant statistical differences in gender（ χ2= 4.347， P=0.041），age（ χ2= 4.071， P=0.045），abscess size（ χ2= 6.298， P=0.008），abscess with fistula（ χ2= 10.928， P<0.001），combined with underlying diseases（ χ2= 10.673， P<0.001），fever（ χ2= 6.215， P=0.014），growth retardation（ χ2= 8.273， P=0.004），malnutrition（ χ2=4.521， P=0.038），hospitalization cost（ t=5.581， P=0.021），and hospital stay（ t=5.309， P=0.036）compared to the simple group.Additionally，the recurrence group showed significant statistical differences in white blood cells（ t=6.873， P=0.006），C-reactive protein（ t=7.631， P=0.003），fecal calprotectin（ t=10.073， P<0.001），albumin（ t=4.587， P=0.025），interleukin-6（ t=11.648， P<0.001），tumor necrosis factor-α（ t=7.803， P=0.021），lymphocyte count（ t=8.478， P=0.011），CD4 +/CD8 + ratio（ t=10.674， P<0.001），and IgA（ t=6.437， P=0.002）compared to the simple group.Multivariate Logistic regression analysis showed that abscess with fistula，Crohn's disease，low IgA，low CD4 +/CD8 + ratio，and high fecal calprotectin were high risk factors for recurrence of perianal abscess in children. Conclusion:Children with perianal abscesses have a high recurrence rate and are prone to fistula formation.Perianal abscess with fistula，Crohn's disease，low IgA，low CD4 +/CD8 +ratio，and high fecal calprotectin are high risk factors for recurrence in children.

Objective:To investigate the clinical characteristics and risk factors for recurrence of perianal abscess in children.Methods:A retrospective study was conducted on the clinical data of 161 children with perianal abscess who were hospitalized in the Children's Hospital affiliated to Zhengzhou University from January 2015 to December 2022.Based on whether or not recurrence occurred after treatment，the patients were divided into the recurrence group(58 cases) and the simple group(103 cases).The clinical manifestations，laboratory examination indexes，and recurrence risk factors of children with perianal abscess were analyzed.Results:The effective rate of treatment for 161 children with perianal abscess was 64.0% (103/161),and 58 cases had recurrent abscess or fistula formation.The main orientations of the lesions were at the 3 o'clock position in 62 cases (38.5%) and at the 9 o'clock position in 67 cases (41.6%) in the lithotomy site.Bacterial culture of drainage fluid from perianal abscesses was positive in 61 (37.9%) children and the pathogens were Klebsiella pneumoniae in 48 cases,Staphylococcus aureus in 7 cases and Escherichia coli in 6 cases.The recurrence group mainly had underlying diseases including 38 cases of Crohn's disease，15 cases of chronic diarrhoea，and 5 cases of immunodeficiency,while the simple group had 3 cases of Crohn's disease，36 cases of chronic diarrhoea，and 2 cases of immunodeficiency，with 62 cases（60.1%）had no underlying diseases.The recurrence group showed significant statistical differences in gender（ χ2= 4.347， P=0.041），age（ χ2= 4.071， P=0.045），abscess size（ χ2= 6.298， P=0.008），abscess with fistula（ χ2= 10.928， P<0.001），combined with underlying diseases（ χ2= 10.673， P<0.001），fever（ χ2= 6.215， P=0.014），growth retardation（ χ2= 8.273， P=0.004），malnutrition（ χ2=4.521， P=0.038），hospitalization cost（ t=5.581， P=0.021），and hospital stay（ t=5.309， P=0.036）compared to the simple group.Additionally，the recurrence group showed significant statistical differences in white blood cells（ t=6.873， P=0.006），C-reactive protein（ t=7.631， P=0.003），fecal calprotectin（ t=10.073， P<0.001），albumin（ t=4.587， P=0.025），interleukin-6（ t=11.648， P<0.001），tumor necrosis factor-α（ t=7.803， P=0.021），lymphocyte count（ t=8.478， P=0.011），CD4 +/CD8 + ratio（ t=10.674， P<0.001），and IgA（ t=6.437， P=0.002）compared to the simple group.Multivariate Logistic regression analysis showed that abscess with fistula，Crohn's disease，low IgA，low CD4 +/CD8 + ratio，and high fecal calprotectin were high risk factors for recurrence of perianal abscess in children. Conclusion:Children with perianal abscesses have a high recurrence rate and are prone to fistula formation.Perianal abscess with fistula，Crohn's disease，low IgA，low CD4 +/CD8 +ratio，and high fecal calprotectin are high risk factors for recurrence in children.

Objective To addresses the challenges arising from the rapid expansion of pharmaceutical clinical trials and the growing demands for quality management,this paper investigates the application of low-code technology in project management.Its goals are to enhance the operational efficiency and execution capabilities of clinical trial institutions,ensure trial quality and safety,and accelerate the translation of pharmaceutical scientific achievements.Methods A brainstorming session was conducted to analyze the technical and functional requirements for managing pharmaceutical clinical trial projects.Utilizing the ＂template design＂ and ＂decision analysis＂ functionalities of low-code technology,the study adopted a modular and visually driven data management approach to develop a system compliant with Good Clinical Practice(GCP)standards.This system integrates key functionalities,including project progress management,funding management,drug inventory management,and quality control.Its effectiveness was evaluated through real-world operation and performance validation.Results The system had demonstrated stable operation with substantial improvements in practical application.Compared with conventional management approaches,it significantly enhanced project management efficiency:the time required for project schedule management was reduced by 80%,the efficiency of financial processing increased by 95%,drug inventory management efficiency improved by 75%,and the time spent on quality control was shortened by 60%.Conclusion The pharmaceutical clinical trial project management system developed using low-code technology offers substantial advantages and promising application potential.It represents a critical practice in applying digital and intelligent tools to advance pharmaceutical productivity in the medical and healthcare sectors.

Objective To addresses the challenges arising from the rapid expansion of pharmaceutical clinical trials and the growing demands for quality management,this paper investigates the application of low-code technology in project management.Its goals are to enhance the operational efficiency and execution capabilities of clinical trial institutions,ensure trial quality and safety,and accelerate the translation of pharmaceutical scientific achievements.Methods A brainstorming session was conducted to analyze the technical and functional requirements for managing pharmaceutical clinical trial projects.Utilizing the ＂template design＂ and ＂decision analysis＂ functionalities of low-code technology,the study adopted a modular and visually driven data management approach to develop a system compliant with Good Clinical Practice(GCP)standards.This system integrates key functionalities,including project progress management,funding management,drug inventory management,and quality control.Its effectiveness was evaluated through real-world operation and performance validation.Results The system had demonstrated stable operation with substantial improvements in practical application.Compared with conventional management approaches,it significantly enhanced project management efficiency:the time required for project schedule management was reduced by 80%,the efficiency of financial processing increased by 95%,drug inventory management efficiency improved by 75%,and the time spent on quality control was shortened by 60%.Conclusion The pharmaceutical clinical trial project management system developed using low-code technology offers substantial advantages and promising application potential.It represents a critical practice in applying digital and intelligent tools to advance pharmaceutical productivity in the medical and healthcare sectors.

Objective:To explore the clinical features and genetic characteristics of three patients with Infantile liver failure syndrome type 2 (ILFS2).Methods:Three children who were diagnosed with ILFS2 at the Children′s Hospital Affiliated to Zhengzhou University from February 2023 to February 2024 were selected as the study subjects. Clinical data of the children were collected. Peripheral blood samples of the children and their parents were collected and subjected to whole exome sequencing (WES). Candidate variants of the NBAS gene were verified by Sanger sequencing. This study was approved by the Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2024-k-069). Results:The three children had presented with fever-triggered recurrent acute liver failure. All of them were found to harbor compound heterozygous variants of the NBAS gene, including c. 3596G>A and c.1181A>T in child 1, c.2617C>T and c. 2T>C in child 2, and c. 3596G>A and c. 2817_2818insT in child 3. Among these, the c. 1181A>T and c. 2817_2818insT variants were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively classified as variants of uncertain significance (PM2_Supporting+ PM3+ PP3) and pathogenic (PVS1+ PM2_Supporting+ PM3). Conclusion:Combined with the patient′s clinical phenotype, the compound heterozygous variants of the NBAS gene probably underlay the pathogenesis of ILFS2 in the three children. For children with fever-related acute liver failure of unknown causes, the possibility of this disease should be suspected, and genetic testing may facilitate the diagnosis. Early diagnosis and timely intervention can significantly improve the prognosis. Discoveries of the c. 1181A>T and c. 2817_2818insT variants have enriched the mutational spectrum of the NBAS gene.

Objective:To study the application of 3D printing technology in multi-center fenestrated/branched endovascular repair (F/B-EVAR) for endovascular repair of abdominal aortic diseases.Methods:From Feb 2018 to Mar 2023, The clinical and followup data of 316 cases of abdominal aortic lesions undergoing repair with F/B-EVAR at 69 medical centers nationwide using 3D printing technology to guide physician-modified stent graft were retrospectively analyzed.Results:The mean follow-up time of the patients was 23 months (2-60 months), and 24 cases were lost to follow up, the follow-up rate was 92.4% (292/316), the mean postoperative hospitalization time was (8.2±4.9) days. A total of 944 main abdominal branch arteries were reconstructed. Intraoperative reconstruction of 11 branches failed, with a success rate of 98.8% (933/944). Within 30 days after surgery, 8 patients died (2.5%), and 6 patients died during follow-up, a total of 14 patients died (4.4%). There were 11 cases (3.5%) of spinal cord ischemia and no patient suffered from permanent paraplegia. There were 19 patients (6.0%) with postoperative renal function injury. Internal leakage was found in 26 patients, and the rate of internal leakage was 8.2%.Conclusion:3D printing technology can accurately locate the location of branch arteries, simplifing the surgical process, shortening the learning curve , and improving clinical efficacy.

Objective:To review the risk factors for early and medium-term complications of fenestration-branch endovascular thoracic aortic repair (F/B-TEVAR) in patients with complex aortic arch disease.Methods:The clinical and follow-up data of 202 patients undergoing F/B-TEVAR treatment from Feb 2019 to Sep 2023 in these centers were retrospectively analyzed .Results:There were 46 cases suffering from postoperative complications (22.8%). The risk factors with statistical significance included aortic atherosclerotic plaque [ OR=2.843; 95% CI (1.4-5.6); P<0.01], aortic intramural thrombosis [ OR=2.358; 95% CI (1.2-4.6), P=0.011], the aortic dilatation [ OR=4.219; 95% CI (1.6-11.3), P<0.01], the history of stroke [ OR=2.088; 95% CI (1.1-4.1), P=0.032], smoking history [ OR=2.680; 95% CI: (1.3-5.5); P<0.01], duration of surgery [ OR=1.9; 95% CI: (1.2-2.9); P=0.042].While the application of 3D printing assistive technology [ OR=0.392; 95% CI: (0.2-0.9); P=0.048] was in a negative correlation with postoperative complication. Conclusions:The independent risk factors for complications after F/B-TVAR included aortic atherosclerotic plaque, aortic intramural thrombosis, the aortic dilatation, the history of stroke, smoking history,duration of surgery.The application of 3D printing technology can effectively reduce the complication rate.