Diacylglycerol o-acyltransferase 1（DGAT1）is the key enzyme in fat metabolism.When DGAT1 gene who encodes this enzyme is mutated，it can affect the intracellular fat metabolism in organism with various clinical manifestations.DGAT1 gene deficiency is one of the causes of congenital diarrhea and enteropathies.The onset age in patients with DGAT1 deficiency is early.The main clinical manifestations of such patients include protein-losing enteropathy，malnutrition and other nutritional disorders.There is no specific drug for such disease so far.Early identification of DGAT1 deficiency and nutritional therapy in early infancy can treat this disease effectively and improve the prognosis.

Abstract OBJECTIVE To explore the reliability and validity of the Chinese version of the Morisky scale(including guardian version and minor version) applied in assessing medication adherence of children with inflammatory bowel disease, and to clarify the current status and features of medication adherence in children. METHODS The 141 children with inflammatory bowel disease were studied, and collect data through on-site distribution and collection of questionnaires using the Chinese version of the Morisky scale as an evaluation tool. Cronbach's a and factor analysis were used to evaluate the internal consistency and construct validity of scales, respectively, and Spearman test was used to evaluate the correlation between medication adherence and disease severity in children. RESULTS The internal consistency of guardian and minor version of Morisky scale determined by Cronbach's a were 0.701 and 0.738, respectively, while factor analysis indicated that the two scales were all composed of three factors which could explain 67.94% and 72.24% of total variance contribution rate, respectively. The adherence score of the 141 children was 6.75(4.75, 8.0). Among them, 58(41.1%), 39(27.7%) and 44(31.2%) children had poor, moderate and good medication adherence respectively; significant negative correlation was found between children's medication adherence and their disease severity(Rs=-0.286, P=0.001). CONCLUSION Both the guardian and minor version of the Chinese-version Morisky scale exhibit good reliability and validity in evaluating medication adherence in children with inflammatory bowel disease, thus can be applied to evaluate medication adherence in children. Nearly half of the children with inflammatory bowel disease have poor medication adherence, while forgetting to take medicine is the main barrier, and significant negative correlation is found between children's medication adherence and their disease severity, high attention should be given to clinical practice.

Abstract OBJECTIVE To investigate the effect of infliximab through concentration and antibody monitoring on the clinical outcome of children with Crohn's disease after 54 weeks of treatment. METHODS A retrospective analysis was conducted with clinical data of pediatric patients aged 6-17 years who were diagnosed with Crohn's disease at Children's Hospital, Zhejiang University School of Medicine from August 2017 to March 2023. They were divided into a reactive and a proactive monitoring group according to the monitoring method. The mucosal healing rate, disease activity, and laboratory indicators were compared after 54 weeks of treatment. RESULTS There were 77 pediatric patients with Crohn's disease included, with 34 patients from the reactive therapeutic drug monitoring group and 43 from the proactive therapeutic drug monitoring group, including 48 males and 29 females. At 54 weeks, the mucosal healing rate in the proactive therapeutic drug monitoring group was higher than that in the reactive therapeutic drug monitoring group, which was 80%(24/30) and 46.43%(13/28), respectively. The two groups had a statistical difference(P=0.01). The total clinical remission rate at 54 weeks was 84.42%(65/77), while the clinical remission rates at 54 weeks were 76.47%(26/34) in the reactive therapeutic drug monitoring group and 90.70%(39/43) in the proactive therapeutic drug monitoring group, respectively. The two groups had no statistical difference. The improvement of hypersensitive C-reactive protein, erythrocyte sedimentation rate, and serum albumin level in the proactive monitoring group was greater than in the reactive monitoring group. There was no statistical difference in the production rate of antibodies to infliximab between the two groups. CONCLUSION Proactive therapeutic drug monitoring in detecting through concentration of infliximab and antibodies may improve the mucosal healing rate compared with reactive therapeutic drug monitoring after 54 weeks of infliximab treatment.

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.

Inflammatory bowel diseases (IBD) are a series of nonspecific chronic intestinal disorders,the pathogenesis is still not clear.The subtypes of IBD include Crohn's disease (CD),ulcerative colitis and inflammatory bowel disease unclassified.Previous studies showed high proportion of malnutrition and growth retardation in IBD children.So it's critical to do nutritional therapy in IBD children.Recently exclusive enteral nutrition is recognized as an effective therapy for pediatric CD to induce clinical remission and releases the parents'concerns of side effects from traditional medications.Here,the nutritional management of pediatric IBD and the role of exclusive enteral nutrition in pediatric CD were reviewed.

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 observe the relationship between vitamin D status and seasons, disease activity, disease location, growth and steroid treatment in children with Crohn's disease (CD). To search for the risk factors of vitamin D deficiency in CD children. To discuss the role of vitamin D in the pathogenesis and treatments of CD.

METHODSixty CD children (63.3% male) and 121 sex- and age-matched healthy subjects were enrolled. Data including growth, clinical characteristics, time for vitamin D blood test, erythrocyte sedimentation rate, C reactive protein, serum 25(OH)D concentration and steroid treatments were collected. The relationship between vitamin D status and disease activity, disease location, growth and steroid treatments in children with CD were analized.

RESULTThe serum concentration of 25(OH)D was 57.2(22.3-246.0) nmol/L, which was significantly lower than that of controls (67.3 (57.3-78.4) nmol/L) (Z=-5.009, P=0.000). Hypovitaminosis D was most prevalent during the winter and spring (November to April, 46.8(31.8-83.4) nmol/L) rather than summer and autumn (May to October, 63.3(22.3-246.0) nmol/L, Z=-1.994, P=0.046). Univariate logistic regression demonstrated that factors increasing the risk of vitamin D deficiency in Crohn's disease were: age over 10 years (OR=4.571, 95% CI: 1.452-14.389), small intestine involved diseases (OR=5.211, 95% CI: 1.278-21.237), high C reactive protein levels (≥8 mg/L) (OR=4.500, 95% CI: 1.094-18.503) and steroid therapy (OR=4.297, 95% CI: 1.413-13.068). Among those risk factors, all but age were determined to be risks of vitamin D deficiency by further multivariate logistic regression. There was no significant correlation between vitamin D deficiency and gender, disease duration, stricture, penetration, perianal disease (fistula, ulcer or abscess), white blood cell counts, hemoglobin, platelet counts, erythrocyte sedimentation rate, serum albumin levels, pediatric Crohn's disease activity index and nutrition therapy (P>0.05).

CONCLUSIONHypovitaminosis D was prevalent in children with CD. Serum concentration of vitamin D was associated with season. Steroid treatment, small intestine involved disease and high C reactive protein (more than 8 mg/L) are risk factors of vitamin D deficiency in CD children.

C-Reactive Protein ; metabolism ; Case-Control Studies ; Child ; Crohn Disease ; complications ; Female ; Humans ; Logistic Models ; Male ; Prevalence ; Risk Factors ; Seasons ; Vitamin D ; blood ; Vitamin D Deficiency ; complications ; Vitamins ; blood

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

Anti-Bacterial Agents ; administration & dosage ; therapeutic use ; Enteral Nutrition ; methods ; Food, Formulated ; Gastroesophageal Reflux ; drug therapy ; surgery ; therapy ; Gastroscopy ; Gastrostomy ; methods ; Humans ; Infant ; Jejunostomy ; Male ; Malnutrition ; drug therapy ; therapy ; Pneumonia, Aspiration ; drug therapy ; surgery ; therapy ; Teaching ; methods