Objective:To analyze the clinical and genetic features of four children with pediatric acute liver failure (PALF) caused by neuroblastoma-amplified sequence ( NBAS) gene variant, as well as the correlation between clinical phenotype and genotype. Methods:The clinical data and genetic test results of four children with NBAS gene variants admitted to the Department of Gastroenterology, Children's Hospital Affiliated to Zhejiang University School of Medicine from August 2015 to June 2023 mainly presenting with pediatric acute liver failure (PALF) were retrospectively analyzed. The relevant literature from January 2015 to May 2024 was retrieved using the Chinese and English keywords " NBAS," "neuroblastoma amplified sequence," "SOPH," "short stature with optic nerve atrophy and Pelger Hu?t anomaly," "liver failure," and "neuroblastoma amplified sequence" indexed in the CNKI database, Wanfang Data Knowledge Service Platform, and PubMed database. The clinical features and gene mutation characteristics of domestic patients were summarized. Results:The age at which the initial PALF attack occurred in the four children varied from eight months to three years and seven months. All patients developed PALF within 1-2 days after the onset of fever, with symptoms such as vomiting, convulsions, and mental depression or confusion, accompanied by a sharp increase in transaminases, elevated bilirubin and blood ammonia, hyperlactatemia, and hepatomegaly. The PALF gradually improved, and three pediatric patients showed extrahepatic manifestations following antipyretic, fluid replacement, and other symptomatic supportive treatment. Long-term follow-up showed that active temperature control and symptomatic therapy reduced the recurrence of PALF. Genetic testing identified eight kinds of NBAS gene variants sites. Family testing validated compound heterozygous variants, which included four missense variants, one nonsense variants, and three frameshift mutations. A literature study revealed that out of 51 Chinese patients with NBAS gene variants, 98.0% (50/51) had liver involvement, and 37 cases showed PALF. A total of 61 mutation sites were identified, with c.3596G>A (45.1%, 23/51) as a hotspot variants. Conclusions:PALF caused by NBAS gene variant has obvious clinical and genetic characteristics, and there is a correlation between genotype and clinical phenotype. The c.3596G>A variant site is a hotspot mutation in China and is strongly correlated with the liver failure phenotype.

Objective:To analyze the clinical and genetic features of four children with pediatric acute liver failure (PALF) caused by neuroblastoma-amplified sequence ( NBAS) gene variant, as well as the correlation between clinical phenotype and genotype. Methods:The clinical data and genetic test results of four children with NBAS gene variants admitted to the Department of Gastroenterology, Children's Hospital Affiliated to Zhejiang University School of Medicine from August 2015 to June 2023 mainly presenting with pediatric acute liver failure (PALF) were retrospectively analyzed. The relevant literature from January 2015 to May 2024 was retrieved using the Chinese and English keywords " NBAS," "neuroblastoma amplified sequence," "SOPH," "short stature with optic nerve atrophy and Pelger Hu?t anomaly," "liver failure," and "neuroblastoma amplified sequence" indexed in the CNKI database, Wanfang Data Knowledge Service Platform, and PubMed database. The clinical features and gene mutation characteristics of domestic patients were summarized. Results:The age at which the initial PALF attack occurred in the four children varied from eight months to three years and seven months. All patients developed PALF within 1-2 days after the onset of fever, with symptoms such as vomiting, convulsions, and mental depression or confusion, accompanied by a sharp increase in transaminases, elevated bilirubin and blood ammonia, hyperlactatemia, and hepatomegaly. The PALF gradually improved, and three pediatric patients showed extrahepatic manifestations following antipyretic, fluid replacement, and other symptomatic supportive treatment. Long-term follow-up showed that active temperature control and symptomatic therapy reduced the recurrence of PALF. Genetic testing identified eight kinds of NBAS gene variants sites. Family testing validated compound heterozygous variants, which included four missense variants, one nonsense variants, and three frameshift mutations. A literature study revealed that out of 51 Chinese patients with NBAS gene variants, 98.0% (50/51) had liver involvement, and 37 cases showed PALF. A total of 61 mutation sites were identified, with c.3596G>A (45.1%, 23/51) as a hotspot variants. Conclusions:PALF caused by NBAS gene variant has obvious clinical and genetic characteristics, and there is a correlation between genotype and clinical phenotype. The c.3596G>A variant site is a hotspot mutation in China and is strongly correlated with the liver failure phenotype.

Objective:To investigate the correlation between red cell volume distribution width (RDW) variation coefficient and mortality in patients with liver cirrhosis complicated with sepsis.Methods:From 2008 to 2019, the real clinical data of patients admitted to the intensive care unit (ICU) of Beth Israel Deaconess Medical Center, Massachusetts Institute of Technology were selected from the American Medical Information Mart for Intensive Care-Ⅳ (MIMIC-Ⅳ) database. Structured Query Language was used to extract the demographic information, physiological indicators, laboratory test indicators, complications, in-hospital mortality, and sequential organ failure assessment (SOFA) score from the MIMIC-Ⅳ database. Analysis of variance and Kruskal-Wallis test were used to analyze the characteristics of patients in different quartiles of RDW variation coefficient and the correlation between RDW variation coefficient and different outcomes. The clinical and prognostic variables were included in the logistic regression model and its adjustment models for analysis. Model 1 was adjusted according to age and gender, and model 2 was adjusted according to age, gender, SOFA score, bilirubin, albumin, body weight, white blood cell count, serum creatinine, serum sodium, dialysis treatment, and with congestive heart failure or not. A cubic spline regression model was used to analyze the dose-response relationship between RDW variation coefficient and in-hospital mortality, ICU mortality, mild to moderate disorders of consciousness in patients with liver cirrhosis complicated with sepsis. Trend tests were performed to analyze the interaction between the RDW variation coefficient and the variables used for stratification.Results:A total of 1 443 patients with liver cirrhosis complicated with sepsis were included, with a median age of 59.0 (52.0, 67.0) years old. Among them, 954 (66.1%) were male and 489 (33.9%) were female. The RDW variation coefficient was 3.49±2.50. Totally 382 patients died during hospitalization, 246 patients died in ICU, and 259 patients with mild to moderate disorders of consciousness. When RDW variation coefficient was analyzed as a continuous variable, the OR values (95% confidence interval (95% CI)) of unadjusted model, model 1, and model 2 in in-hospital mortality, ICU mortality and mild to moderate disorders of consciousness were 1.12 (1.09 to 1.16), 1.14 (1.10 to 1.17), 1.08 (1.03 to 1.13); 1.11 (1.07 to 1.15), 1.12 (1.08 to 1.16), 1.07 (1.02 to 1.12); and 1.16 (1.12 to 1.20), 1.16 (1.12 to 1.20), 1.12 (1.07 to 1.17); respectively. The fourth quartile of RDW variation coefficient (>4.74, 29.08) was taken as the control group, the OR values (95% CI) of the unadjusted model, model 1, and model 2 were 3.00 (2.13 to 4.25), 3.32 (2.34 to 4.74), 1.76 (1.10 to 2.84); 3.42 (2.27 to 5.26), 3.81 (2.50 to 5.90), 1.77 (1.03 to 3.11); and 8.52 (5.23 to 14.63), 8.35 (5.10 to 14.38), 5.56 (2.87 to 11.69); respectively. There was a linear correlation between RDW variation coefficient and in-hospital mortality, ICU mortality, mild and moderate disorders of consciousness (all P<0.05). Among patients with higher SOFA scores, along with the increase of RDW variation coefficient, the increase of in-hospital mortality, ICU mortality and the incidence of mild and moderate disorders of consciousness, were more significant than those of patients with lower SOFA scores ( P=0.022, 0.024, and 0.001). Conclusion:Variation coefficient of RDW is associated with increased risk of disorders of consciousness and in-hospital mortality in patients with liver cirrhosis complicated with sepsis.

Objective:To study the basic situation of Yunnan Province Suncus murinus carrying plague phage and to explore its epidemiological significance. Methods:From 2015 to 2018, a survey of plague host animals was carried out in 10 investigation sites in the historical plague foci, new plague foci (after 1982) and stubborn plague foci of domestric mouse in Yunnan Province. The plague phage was isolated and cultured from the intestinal specimens of Suncus murinus. The growth of plaque was observed by double-layer plate method, and the morphology and structure of plague phage were observed under electron microscope. At the same time, intestinal samples were taken to detect the structural gene caf1 of F1 antigen of Yersinia pestis. Results:In this study, a total of 157 Suncus murinus were captured and 16 strains of plague phage were isolated, with a total isolation rate of 10.19%. There was no difference in plague phage isolation rate between historical plague foci (10.00%, 1/10) and stubborn plague foci (16.22%, 12/74), new plague foci (4.11%, 3/73, χ 2 = 0.00, P = 0.965; Fisher test, P = 1.000). However, there was a difference in plague phage isolation rate between stubborn plague foci and new plague foci (χ 2 = 5.88, P = 0.015). There was no significant difference in the isolation rate of plague phage among different sex, growth period and habitat ( P > 0.05). The plaque morphology of the isolated plague phage was diverse, of which four strains were myotavirus phages; and all samples were negative for F1 antigen structural gene caf1. Conclusions:Suncus murinus is widely distributed in the domestic mouse plague foci in Yunnan Province, and the animals carry a certain number of plague phage. Regular surveillance of Suncus murinus and their plague phage has a certain guiding significance for the surveillance and early warning of plague in Yunnan Province.

Objective: To understand and analyze the level and trend of lung function of children and adolescents in Yinchuan, Ningxia from 2010 to 2019, and to explore the influencing factors of vital capacity. Methods: Children and adolescents aged 7-13 years were randomly selected from Xingqing District, Jinfeng District and Xixia District of Yinchuan. Based on the data of vital capacity from three surveys in 2010, 2014 and 2019, the trends of changes across residence, ages and sex in 2010-2019 were analyzed, and the influencing factors were explored. Results: From 2010 to 2019, the vital capacity of children and adolescents aged 7- 13 years in urban and rural Yinchuan showed an upward trend( F=194.48, 382.47, P <0.01), with an increasing amount of 410.89 and 554.46 mL, respectively. In 2014, the vital capacity of urban students was higher than that of rural students, but it was lower than rural students in 2019. After stratified by age and sex, its trend was consistent with that of urban and rural areas, but students in all age groups in urban areas declined in 2014-2019. Height, weight, 50 m running, the phenomenon of "crowding out" or "Not attending" physical education and health class in school, the feeling of taking physical education and health class when exercising, the average time spent on exercises between classes every day, whether using pedometer, wearable equipment or exercise APP, travel time to school every day, the recognition on sports, were associated with vital capacity in children and adolescents ( β=-185.70, -54.94, P <0.05). Conclusion In recent years, the vital capacity of 7-13 year old children and adolescents in Yinchuan has shown an increasing trend. Physical fitness indicators and physical activity are influencing factors of lung capacity in children and adolescents. In the future, health management for students should be strengthened and students awareness of physical exercise should be improved.

Objective:To explore the incidence and the risk factors of post-polypectomy bleeding and polyp recurrence after colonoscopic high-frequency electrocoagulation snare polypectomy.Methods:Clinical data of 1 826 children who underwent colonoscopic high-frequency electrocoagulation snare polypectomy in the Children′s Hospital, Zhejiang University School of Medicine from January 2009 to December 2020 was retrospectively analyzed. Demographic characteristics, endoscopic manifestations, pathological features, diagnosis, occurrence of post-polypectomy bleeding and polyp recurrence were collected. The associated risk factors were analyzed by Logistic regression.Results:A total of 1 826 children (1 191 males and 635 females) with 1 967 polypectomies were included. The age was 4.6 (3.2, 6.4) years at initial diagnosis. According to the initial colonoscopy, 1 611 children (88.2%) had solitary polyps, 1 707 children (93.5%) had pedicled polyps, 1 151 children (63.0%) had polyps involving the rectum, and 1 757 children (96.2%) had hamartomatous polyps. Polyposis syndromes were diagnosed in 73 children (4.0%). The post-polypectomy bleeding occurrence was 3.8% (75/1 967). Polyps recurred in 88 children (4.8%). Girls ( OR=2.01, 95% CI 1.26-3.23) and sessile polyps ( OR=2.28, 95% CI 1.15-4.49) were risk factors for post-polypectomy bleeding (both P<0.05). Multiple polyps ( OR=17.49, 95% CI 9.82-31.18), right-colon involvement ( OR=3.44, 95% CI 1.89-6.26) and non-hamartoma ( OR=2.51, 95% CI 1.04-6.07) were risk factors for polyp recurrence (all P<0.05). Conclusions:Colonoscopic high-frequency electrocoagulation snare polypectomy has low incidence of post-polypectomy bleeding and polyp recurrence. Female patients and sessile polyps have higher risk for post-polypectomy bleeding. Multiple polyps, right-colon involvement and non-hamartoma polyps increase the risk for polyp recurrence.

Objective:To observe the efficacy of maintenance treatment of thiopurines after exclusive enteral nutrition (EEN) therapy for Crohn′s disease (CD) children, and explore the influencing factors of recurrence.Methods:A retrospective case-control study was conducted. CD children treated in the Children′s Hospital of Zhejiang University School of Medicine from March 2013 to March 2021 were included retrospectively. Data before EEN were collected including general demographics, Paris classification, the pediatric Crohn′s disease activity index (PCDAI), C-reactive protein (CRP), erythrocyte sedimentation rate (ESR) and serum albumin levels. According to the recurrence at 1 year of follow-up, patients were divided into remission group and recurrence group. The differences in clinical data before EEN between the 2 groups were analyzed. The factors influencing the recurrence were analyzed.Results:Thirty-five children were enrolled, including 25 (71.4%) males and 10 (28.6%) females. The age at diagnose was (11.2 ± 3.1) years old and the disease duration was 3.5 (2.2, 6.9) months. After 1 year of follow-up, 15 children had recurrence at least for one time and were divided into the recurrence group. Twenty (57.1%) children continued to maintain 6-mercaptopurine (6-MP) monotherapy and were divided into the remission group. There was no significant differences in gender, diagnostic age, and CRP, ESR, serum albumin and PCDAI before EEN between the two groups (all P>0.05). There was significant difference in the percentage of patients with disease duration of longer than 1 year before EEN between the two groups ( P = 0.026) . Conclusions:The children with the disease duration of longer than 1 year before EEN may be in high risk of recurrence on the regimen of maintenance treatment of thiopurines after EEN.

Objective:To observe the efficacy of maintenance treatment of thiopurines after exclusive enteral nutrition (EEN) therapy for Crohn′s disease (CD) children, and explore the influencing factors of recurrence.Methods:A retrospective case-control study was conducted. CD children treated in the Children′s Hospital of Zhejiang University School of Medicine from March 2013 to March 2021 were included retrospectively. Data before EEN were collected including general demographics, Paris classification, the pediatric Crohn′s disease activity index (PCDAI), C-reactive protein (CRP), erythrocyte sedimentation rate (ESR) and serum albumin levels. According to the recurrence at 1 year of follow-up, patients were divided into remission group and recurrence group. The differences in clinical data before EEN between the 2 groups were analyzed. The factors influencing the recurrence were analyzed.Results:Thirty-five children were enrolled, including 25 (71.4%) males and 10 (28.6%) females. The age at diagnose was (11.2 ± 3.1) years old and the disease duration was 3.5 (2.2, 6.9) months. After 1 year of follow-up, 15 children had recurrence at least for one time and were divided into the recurrence group. Twenty (57.1%) children continued to maintain 6-mercaptopurine (6-MP) monotherapy and were divided into the remission group. There was no significant differences in gender, diagnostic age, and CRP, ESR, serum albumin and PCDAI before EEN between the two groups (all P>0.05). There was significant difference in the percentage of patients with disease duration of longer than 1 year before EEN between the two groups ( P = 0.026) . Conclusions:The children with the disease duration of longer than 1 year before EEN may be in high risk of recurrence on the regimen of maintenance treatment of thiopurines after EEN.

Objective: To investigate whether plague phages were present in the indicator animals of plague foci in Yunnan Province, and to explore their epidemiological significance. Methods: Anus swabs were collected from indicator animals (dogs or cats) of the 41 plague affected villages in 26 towns of 10 cities (counties, districts) of Yunnan plague foci from November of 2015 to March of 2018. The Yersinia pestis phages were isolated by plague vaccine strain EV76. The isolation of plague phages from different plague foci, the isolation of plague phages from different canine species (cats), the polymorphism of plaque and the host spectrum of phages were analyzed. Results: A total of 1 014 indicator animals (1 003 dogs and 11 cats) were studied, and 102 of plague phages were isolated. In the 10 cities (counties, districts), plague phages were only not isolated from Lancang County, and the plague phages were isolated from the other 9 cities (counties, districts). The separation rates from high to low were as follows: Yiliang County (21.00%, 21/100), Menghai County (19.23%, 25/130), Yuanjiang County (11.63%, 10/86), Midu County (11.50%, 13/113), Wenshan County (10.10%, 10/99), Mile Country (7.07%, 7/99), Lianghe County (6.67%, 7/105), Baoshan Longyang District (4.90%, 5/102) and Gengma County (3.81%, 4/105). Of the 102 plague phages, 75 were isolated from the native dogs (Chinese pastoral dogs, 9.32%, 75/805), 20 from the pug dogs (13.70%, 20/146), 5 from the wolf dogs (17.24%, 5/29), 1 from Samoye (1/4) and 1 from Alaska dog (1/2). The plaque of the phage was divided by five appearance of complete lysis (the plate was clear), large (2.5-4.0 mm), big (1.5-< 2.5 mm), middle (0.5-< 1.5 mm) and small (< 0.5 mm). The representative phages were all of the Myoviridae family. Most of the phages could lysis the strains of Yersinia pestis, and some phages could lysis Shigella and type 5 Yersinia pseudotuberculosis (PST5). Conclusion The plague phages are present in the plague foci of Yunnan, and the phages are polymorphic.

Objective: To explore the clinical features and complications of foreign bodies in the upper gastrointestinal tract in children and to investigate the effectiveness of endoscopic management. Methods: Data of patients with foreign bodies in upper gastrointestinal tract were collected retrospectively at Endoscopy Center, the Children's Hospital, Zhejiang University School of Medicine, from January 2011 to December 2016. Clinical characteristics, the types of foreign bodies, the location and duration of foreign body impaction were summarized. The risk factors of complications and endoscopic removal failure were analyzed by using Logistic regression analysis. Results: A total of 1 334 patients (825 males and 509 females) were enrolled. The median age was 2.5 years, with a range from 0.25 to 15 years and peak age 1-3 years. Twenty patients had esophageal diseases. The most common foreign body ingested was coin (n=964, 72.3%). Foreign bodies were most commonly located in the esophagus (n=1 002, 75.1%), especially in the upper esophagus (n=857, 85.5%). The duration of foreign body impaction ranged from 3 hours to 5 years. Among 1 334 patients, 252 patients (18.9%) developed complications, including ulcers (n=101, 40.0%) and perforations(n=13, 5.2%). The success rate of endoscopic removal was 96.6% (n=1 288). By Logistic regression analysis, sharp foreign body ingestion (OR=6.893, 95%CI: 4.421-10.746) , esophageal impaction (OR=5.253, 95%CI:3.352-8.233) and foreign body impaction longer than 24 hours (OR=4.336, 95%CI:3.091-6.082) were risk factors of complications. Sharp foreign body ingestion was the risk factor of endoscopic failure (OR=5.372, 95%CI:2.773-10.406) . Conclusions Coin is the most common foreign body in upper gastrointestinal tract. Sharp foreign bodies impacted in the esophagus over 24 hours increase the risk of complications. Endoscopic removal of foreign bodies from the upper gastrointestinal tract in children has a high success rate. Sharp foreign body ingestion increases the risk of failure in endoscopic removing.