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 current status of quality control of radiological diagnosis and treatment equipment in Shenzhen City, explore the problems in quality control testing of radiological diagnosis and treatment equipment, and provide control strategies. Methods According to the requirements of the Special Monitoring Work Plan for Radiation Health in Shenzhen, quality control tests were carried out on some radiological diagnosis and treatment equipment in Shenzhen according to the test items and methods of the currently valid national standards. Results From 2019 to 2023, a total of 72 medical institutions participated in radiological health monitoring program in Shenzhen, and 839 quality control tests were performed on radiological diagnosis and treatment equipment. The qualified rate was 91.8% in preliminary tests. The qualified rates of radiological diagnosis, radiotherapy, and nuclear medicine equipment were 91.9%, 96.3%, and 62.5%, respectively. The primary unqualified items were response uniformity, flatness of the X-ray irradiation field, and intrinsic spatial linearity. Conclusion The qualified rate in quality control of nuclear medical equipment is relatively low. Medical institutions should strengthen the routine maintenance of radiological diagnosis and treatment equipment. Radiological health technical service institutions should enhance the training of technical personnel to ensure the health and safety of patients and radiation workers.

Objective To analyze the activity concentrations of gross α, gross β, and radionuclides in atmospheric fallout around Daya Bay Nuclear Power Plant from 2019 to 2022, and provide foundational scientific data for the healthy development of nuclear energy. Methods Five monitoring sites were set up at different distances (1.2, 6.9, 12.4, 42.3, and 69.2 km) from Daya Bay Nuclear Island 1. Stainless steel sampling barrels were used to collect atmospheric fallout, with a monitoring cycle of three months. The collected samples were ashed using radiochemical method. Subsequently, the gross α and gross β radioactivity were quantified using a low-background α/β measurement instrument. The remaining ash samples were mixed with water and left to equilibrate for over three weeks before γ-nuclide analysis using a low-background, high-purity germanium γ-spectrometer. Results The gross α activity concentration in atmospheric fallout around Daya Bay Nuclear Power Plant from 2019 to 2022 averaged (25.3 ± 10.6) Bq/m²/season and ranged from 5.8 to 73.4 Bq/m²/season. The gross α activity concentrations in sampling sites #1 to #5 were 5.8-34.4, 11.9-35.2, 14.4-46.4, 7.2-73.4, and 13.1-43.1 Bq/m²/season, respectively. The gross β activity concentration averaged (50.5 ± 23.4) Bq/m²/season and ranged from 13.9 to 139.3 Bq/m²/season. The gross β activity concentrations of sampling sites #1 to #5 were 17.1-107.4, 17.6-87.5, 25.8-102.0, 13.9-139.3, and 23.4-99.2 Bq/m²/season, resprctively. The activity concentrations of ²³⁸U, ²²⁶Ra, ²³²Th, ⁴⁰K, ²¹⁰Pb, and ⁷Be in atmospheric fallout were < lower limit of detection (LLD)-4.2, < LLD-5.8, < LLD-6.3, < LLD-42.1, < LLD-514.0, and 35.7-1761.0 Bq/m²/season, respectively. Gross α and gross β activity concentrations were significantly positively correlated with ²¹⁰Pb activity concentration (r=0.770, α < 0.001; r=0.882, α < 0.001, respectively). Gross β activity concentration showed a significant positive correlation with ⁷Be (r=0.833, α < 0.001). The activity concentrations of ⁵⁴Mn, ⁵⁷Co, ⁵⁸Co, ⁶⁰Co, ⁵⁹Fe, ⁹⁵Zr, ¹⁰³Ru, ¹⁰⁶Ru, ^110mAg, ¹³¹I, ¹³⁴Cs, ¹³⁷ Cs, ¹⁴⁰Ba and ¹⁹²Ir were lower than the LLD of the instrument, and no artificial radionuclides were detected. Conclusion The gross α and gross β radioactive activity concentrations in the atmospheric fallout in the surrounding area of Daya Bay Nuclear Power Plant during 2019-2022 were affected by natural radionuclides ²¹⁰Pb and ⁷Be, and were in the normal fluctuation ranges. No artificial radionuclides were found in the atmospheric fallout, and the Daya Bay Nuclear Power Plant was in a safe and stable state of operation.

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 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 analyze the clinical characteristics of X-linked inhibitor of apoptosis (XIAP) deficient patients with clinical manifestation of Crohn's disease. Methods: Clinical manifestations, laboratory investigations, genetic testing and therapeutic interventions of one case of XIAP deficiency who was admitted to Department of Gastroenterology in Children's Hospital, Zhejiang University School of Medicine in May 2016 were summarized. PubMed and Chinese database for articles published from January 2016 to June 2017 were searched using the key words of'Crohn's disease’and'XIAP’, and the relevant literature was reviewed. Results: The case we reported was a 6-year-1-month-old boy with recurrent bloody stool for 2 months, and abdominal pain with fever for 2 weeks. The patient had a past history of hemophagocytic lymphohistiocytosis (HLH) and epilepsy in the past one year. Complete blood cell count showed mild anemia (Hb108 g/L). The patient had an elevated high-sensitivity C reactive protein (86 mg/L) and erythrocyte sedimentation rate (46 mm/1h) . White blood cells, pus cells and red blood cells were found on routine stool examination. Biochemical panel showed hypoalbuminemia (25.2 g/L) , elevated transaminase (alanine aminotransferase 175 U/L, aspartate transaminase 229 U/L) , hypertriglyceridemia (4.41 mmol/L) , and hyperferritinemia (>1 650.0 μg/L) . Magnetic resonance enterography revealed the intestinal wall thickening and increased enhancement in parts of illeum and colon. Capsule endoscopy revealed multiple ulcers in jejunum. Colonoscopy showed multiple ulcers in colon and the pathological examination revealed chronic inflammation in mucosa of terminal ileum and colon, which was combined with partial necrosis and ulceration. Some phagocytes were seen in bone marrow smears. The patient was given multiple diagnoses, including hemophagocytic lymphohistiocytosis, Crohn's disease, sepsis, epilepsy, severe malnutrition, and hypoproteinemia. The pediatric Crohn's disease activity index (PCDAI) was 37.5. Genetic testing identified a hemizygotic mutation of c.910G>T chrX:123022501 p.G304X in XIAP. The parents had no such mutation. The patient showed response to infliximab with oral intake of mercaptopurine and corticosteroids, and had remission with PCDAI of 0. There were 9 relevant articles (Chinese 0 English 9), which showed 33.3% XIAP deficient patients manifested with inflammatory bowel disease(IBD), who might have other manifestations such as hemophagocytic lymphohistiocytosis or splenomegaly simultaneously or sequentially. Those patients showed poor response to monotherapy. Conclusion XIAP deficient patients have various clinical manifestations. Genetic testing is important to those male pediatric IBD patients who have the complicated symptoms or little response to standard therapy.

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.

OBJECTIVETo investigate the efficacy of infliximab versus corticosteroids in achieving clinical remission in pediatric patients with Crohn's disease in China.

METHODData of all newly diagnosed active Crohn's disease pediatric cases seen from June 2009 to December 2013 in Children's Hospital, Zhejiang University School of Medicine were retrospectively recorded and reviewed.

INCLUSION CRITERIAthe age of the children was less than 18 years; pediatric Crohn's disease activity index (PCDAI) was more than 10; infliximab or corticosteroids were used for inducing remission; infliximab, immunosuppressive medications or mesalamine was prescribed for maintaining remission. Patients in steroids group were followed up for more than 1 year. The enrolled patients were divided into two groups: infliximab group and steroids group. Clinical data, laboratory findings and side effects of the medications were collected at week 2, 4, 12, 24 and 48. PCDAI and Crohn's disease endoscopic index score (CDEIS) were calculated. Clinical response rate, clinical remission rate, relapse rate, mucosal healing and growth were evaluated.

RESULTEleven children received infliximab therapy and 11 subjects received corticosteroids. In Infliximab group, 6, 5 and 7 patients were in clinical remission at week 2, 4, and 8, while so were 6, 9, and 9 patients in steroids group. The difference was not statistically significant (χ² = 0.00, 3.14, 0.92, P > 0.05). In infliximab group, 8, 8, and 11 patients were in clinical remission at week 2, 4, and 8, so were 8, 9, and 9 patients in steroids group. The difference was not statistically significant (χ² = 0.00,0.26, 2.20, P > 0.05). When compared with data at baseline, significant decreases were observed in the median PCDAI between the two groups at week 2, 4, and 8 (all P < 0.05). But there were no significant differences between two groups at week 2, 4, and 8 (all P > 0.05). At week 12, 24 and 48, 8/11, 7/8, 3/5 cases on infliximab versus 7/11, 9/11, 8/11 cases on steroids maintained remission. There was no significant differences between the two groups (all P > 0.05). In 7 patients and 9 patients remission was successfully induced at week 8. The relapse rate was similar at week 12, 24, and 48 (χ² = 0.83, 0.09, 1.00, all P > 0.05). Height for age Z score in infliximab group was significantly higher than that in steroids group at week 24 (P < 0.05). Body mass index Z score between the two groups at week 8, 24, and 48 were not statistically significant (all P > 0.05). Of the children treated with infliximab, 3 developed side effects. All the children treated with steroids got Cushing's syndrome.

CONCLUSIONIn children with Crohn's disease, infliximab therapy is as effective as corticosteroids to induce remission.Less side effects were observed with infliximab therapy compared with immunosuppressive medication and mesalamine.

Adrenal Cortex Hormones ; therapeutic use ; Antibodies, Monoclonal ; therapeutic use ; Child ; China ; Crohn Disease ; drug therapy ; Humans ; Infliximab ; Remission Induction ; methods ; Retrospective Studies ; Treatment Outcome