Objective:To investigate the gastrointestinal characteristics of children with glycogen storage disease (GSD) type Ⅰ.Methods:From June to December 2020, clinical data of children aged 0-18 years with GSD type Ⅰ diagnosed by genetic testing from all provinces and cities in China, including Beijing, Shanghai, Guangdong, Guangxi, Hunan, Sichuan, Yunnan, Guizhou, Henan, Hebei, Zhejiang, Jiangsu, Shaanxi, Anhui and Heilongjiang, were collected.A cross-sectional questionnaire survey was used for data analysis.Results:A total of 52 questionnaires were obtained, and 43 eligible patients aged 1-18 years were recruited, involving 30 males (69.8%) and 13 females (30.2%). Among them, 9 patients were GSD type Ⅰa and 34 patients were type Ⅰb.Seven patients (16.3%) had siblings who were also diagnosed as GSD type Ⅰb.The gastrointestinal manifestations included recurrent diarrhea in 26 patients (60.5%), perianal lesions (erythema, ulcer, abscess) in 25 patients (58.1%), abdominal pain/distension in 24 patients (55.8%), nausea/vomiting in 22 patients (51.1%), mucus/bloody stool in 14 patients (32.6%). Thirty-three patients (76.7%) had recurrent stomatitis and oral ulcer, and 38 patients (88.0%) had at least two gastrointestinal symptoms.White blood cell (WBC) count was <4.0×10 9/L in 24 patients (55.8%), and absolute neutrophils count was <1.5×10 9/L in 19 patients (44.2%), which was <0.5×10 9/L in 10 patients (23.3%). WBC count and absolute neutrophils count both decreased in children with GSD type Ⅰb.Platelets were >300×10 9/L in 30 patients (69.8%). Eighteen patients with GSD type Ⅰb underwent gastroscopy and colonoscopy, and 16 patients were diagnosed with GSD-related inflammatory bowel disease.Thirty-nine patients (90.7%) were fed with raw corn starch, 3 patients (6.9%) with maltodextrin and 19 patients (44.2%) with special enteral formula.Twenty patients with type Ⅰb GSD needed repeated antibiotic treatment due to neutropenia and neutrophil dysfunction.Fifteen patients were treated with granulocyte colony-stimulating factor (G-CSF). Among them, 11 patients were diagnosed as GSD-related bowel disease. Conclusions:Children with GSD type Ⅰ commonly have gastrointestinal symptoms, especially those with GSD type Ⅰb.The incidence of GSD-related inflammatory bowel disease is high in those children.G-CSF treatment cannot prevent the development of GSD-associated inflammatory bowel disease and its pathogenesis needs further research.Diet therapy is the first-line treatment of GSD type Ⅰ.Multidisciplinary management is helpful to reduce the complications and improve the quality of life in children with GSD type Ⅰ.

Purpose: The present international survey among healthcare providers aimed to collect data on theoretical knowledge and clinical practices in the diagnosis and management of cow’s milk protein allergy (CMPA) and lactose intolerance (LI) in infants. Methods: A global survey was conducted in several countries with diverse health care settings. The survey consisted of multiple-choice questions in 3 main domains: (1) understanding and clinical practices around CMPA and LI; (2) case scenarios; and (3) diseasespecific knowledge and potential educational needs. Results: Responses were available from 1,663 participants. About 62% of respondents were general practitioners or general pediatricians, and the remainder were pediatric allergists/ gastroenterologists (18%) or other health practitioners (20%). The survey identified knowledge gaps regarding the types of CMPA (IgE-mediated vs. non-IgE-mediated) and the clinical overlap with LI. The survey suggested diverse clinical practices regarding the use of hypoallergenic formulas, as well as misconceptions about the prebiotic benefits of lactose in extensively hydrolyzed formulas in non-breastfed infants with CMPA. Responses to the two case scenarios highlighted varying levels of awareness of the relevant clinical practice guidelines. While respondents generally felt confident in managing infants with CMPA and LI, about 80% expressed an interest for further training in this area. Conclusion The current survey identified some knowledge gaps and regional differences in the management of infants with CMPA or LI. Local educational activities among general and pediatric healthcare providers may increase the awareness of clinical practice guidelines for the diagnosis and treatment of both conditions and help improve clinical outcomes.

Objective:To discover the epidemiological characteristics and clinical manifestations of Nontyphoidal Salmonella(NTS) infection in children suffering from diarrhea in Guangzhou, and to provide references for the prevention and treatment of salmonella infection. Methods:A total of 570 diarrhea children and 296 non-diarrhea controls were collected with stratified sampling from three districts of Guangzhou Women and Children′s Medical Center from January 2019 to December 2019. Through bacterial culture, corresponding colonies were selected and Salmonella diagnostic serum was applied for preliminary serum diagnosis, and then systemic biochemical method was adopted for diagnosis. A structured questionnaire was conducted to record the demographic information and clinical symptoms from each subject. Results:The detection rate of NTS was 6.67% (38/570 cases, 95% CI: 4.90%-9.02%) in children with diarrhea, and 1.01% (3/296 cases, 95% CI: 0.34%-2.93%) in children without diarrhea. There were statistically differences in NTS detection rate between children with diarrhea and the control ( χ2=13.805, P<0.05, OR=6.976, 95% CI: 2.135-22.796). There were no significant differences in NTS detection rate between male and female children with diarrhea ( χ2=0.395, P>0.05, OR=1.254, 95% CI: 0.619-2.541). The detection rate of NTS was 5.30% (22/416 cases, 95% CI: 3.52%-7.88%) in children younger than 2 years old, and was 10.40% (16/154 cases, 95% CI: 6.50%-15.21%) in children over 2 years old. There were statistically differences ( χ2=4.700, P<0.05, OR=2.076, 95% CI: 1.060-4.068) between the younger and the older groups.The detection rate of NTS was 5.40% (25/460 cases, 95% CI: 3.70%-7.89%) for children with diarrhea in outpatient department and 11.80% (13/110 cases, 95% CI: 7.04 %-19.18%) for children with diarrhea in inpatient department, with statistically significant differences ( χ2=5.813, P<0.05, OR=2.332, 95% CI: 1.152-4.721). The detection rate of NTS diarrhea in children was 4.60% (10/217 cases, 95% CI: 2.52%-8.28%) in spring, 8.50% (12/141 cases, 95% CI: 4.93%-14.29%) in summer, 9.60% (15/144 cases, 95% CI: 6.41%-16.48%) in autumn and 1.50% (1/168 cases, 95% CI: 0.11%-3.30%) in winter, respectively, with statistically differences among the four seasons( χ2=9.404, P<0.05). There were significant differences in most common clinical symptoms of fever, vomiting, abdominal pain, bloody stool and pasty stool between NTS positive and negative children(all P<0.05). Salmonella enteritis is the main type, and Salmonella typhimurium is the second type. Conclusions:NTS is one of the most important bacterial pathogens and leads to diarrhea in children in Guangzhou city, without differences in gender.Children over 2 years old are more likely to suffer from NTS infection.High incidence is in autumn.The most common clinical symptoms include fever, vomiting, abdominal pain, bloody stool and pasty stool. Salmonella enteritis is the main type, and Salmonella typhimurium is the second type.Laboratory tests can provide references for the diagnosis and treatment of NTS-related diarrhea.

Objective:To investigate the multilocus sequence typing feature of the virulence-associated genes of Staphylococcus aureus(S. aureus) separated from the clinical specimens of a multi-center cohort children in Guangzhou area. Methods:A total number of 412 Staphylococcus aureus strains isolated from 2 059 non-repeated fecal specimens of children by three groups′ researchers in Guangzhou Women and Children′s Medical Center from August 2018 to November 2018. While collecting specimens, patient clinical information is also properly collected and preserved. After extracting the DNA of the strain, the virulence-associated genes were detected by polymerase chain reaction (PCR), including the staphylococcal enterotoxin (SE) genes ( sea, seb, sec, sed, see) and the Panton-Valentine leucocidin-encoding gene ( pvl).The multi-locus sequence typing (MLST) method was performed to reveal the MLST feature of these genes and the statistical difference were examined by the the χ 2 test. Results:Among the 412 isolates of S. aureus, 256 strains (256/412, 62.1%) contains at least one SE gene. Among the enterotoxin gens, the sec (125/412, 30.3%), seb(98/412, 23.8%)and sea (66/412, 16.0%)genes were the three most prevalent members of SEs. The frequency of pvl gene in Staphylococcus aureus was 18.7%(77/412).Among them, the frequency of Staphylococcus aureus sea gene isolated from patients with gastroenteritis (58/319, 18.2%) was significantly higher than that from the non-gastroenteritis group (8/93, 8.6%)(χ2=4.912, P=0.027). The frequency of Staphylococcus aureus pvl gene isolated from the patients with pneumonia (8/21, 38.1%) was greater than that from the non-pneumonia group (6/47, 12.8%)(χ2=4.252, P=0.039). In addition, the virulence-associated gene of S. aureus was closely related to the specific ST type, 82.4% (28/34) of ST6 carried sea gene, all ST338 and ST59 carried seb gene, 96% (48/50) ST45 carried sec gene, and the pvl gene carrying rate of ST338 was 5/5. Conclusions:The SEA toxin produced by ST6 Staphylococcus aureus may be closely related to the diagnosis of gastroenteritis in children. The frequency of pvl virulence gene in Staphylococcus aureus in children with community-acquired pneumonia was higher than that in the non-pneumonia group, and closely related to the CC59.

Objective To predict and verify the upstream regulatory microRNA (miRNA)of protein kinase D1 (PKD1),and to investigate its role in cerulein induced acute pancreatitis (AP)in rats. Methods Potential up-stream regulatory miRNA of PKD1 was predicted by using bioinformatics software. Dual luciferase reporter gene system and Western blot were applied to verify the regulation of PKD1 by the selected miRNA. Experimental AP was induced by 6 intraperitoneal injection of cerulein (20 μg/ kg)at hourly intervals after administration of the CY5 - labeled notar-get control (AP group,n = 20)or selected miRNA (treatment group,n = 20),respectively by intraperitoneal injection into rats. Other rats were divided randomly into a normal control group (n = 10)without any treatment. Besides 10 rats in either AP or treatment group were sacrificed 6 hours after the first injection of cerulein,and the rats were all sacri-ficed 24 hours after the first injection. The blood samples and pancreatic tissues of each rat were collected to test serum amylase and lipase activities,or to make hematoxylin - eosin stain for AP pathological scores as well as PKD1 immuno-histochemical staining,respectively. Results TargetScan 7. 1 software analysis showed that miR - 128 - 3p was the po-tential upstream regulatory miRNA of PKD1,which was verified by dual luciferase reporter gene system and Western blot detection. Compared to the normal control group,serum amylase and lipase activities after 6 h exposure to cerulein increased in both AP group and the treatment group[13313. 00(9424. 00 - 15995. 00)U/ L,13552. 00(10399. 50 -18408. 25)U/ L vs. 1430. 50(1214. 25 - 1543. 25)U/ L;547. 00 (515. 00 - 627. 00)U/ L,857. 50(522. 00 -1222. 25)U/ L vs. 34. 00(32. 50 - 34. 75)U/ L],and the differences were significant(χ2 = 8. 715,P < 0. 05;χ2 =9. 115,P < 0. 05),which indicated that the rat models of AP were successfully established. The immunohistochemical scores of PKD1 after 24 h exposure to cerulein decreased in the treatment group[0. 50(0 - 2. 75)scores],compared with the normal control group [4. 00(4. 00 - 8. 00)scores]and the AP group [4. 00(3. 75 - 8. 00)scores],and difference was significant(χ2 = 18. 302,P < 0. 05). Accordingly,the total pathological scores of HE staining decreased significantly in the treatment group,as compared to the AP group (3. 80 ± 0. 85 vs. 6. 90 ± 1. 15,t = 4. 481,P < 0. 01). The results showed that the inflammatory cell infiltration and tissue necrosis were significantly improved after miR -128 - 3p treatment. Conclusions miR - 128 - 3p is the upstream regulatory microRNA of PKD1 which protects pan-creata from necrotic injury and inflammatory cell infiltration in PKD1 - mediated acute pancreatitis.

Objective To understand the clinical characteristics of children′s digestive tract deep fungal infection,avoid clinical misdiagnosis and missed diagnosis. Methods We analyzed the clinical characteristics and treatment effect in the children who were diagnosed with gastrointestinal tract deep fungus infection from January 2005 to May 2016 in guangzhou women and children′s hospital. Results Digestive tract deep fungal in-fection in 6 cases. All children are fungal esophagitis,fungal gastrointestinal diseases in 2 cases. The main clinical feature is vomiting,dysphagia and abdominal pain which lasted 4 ~12 weeks. Broad-spectrum antibiotics in 1 case,congenital immunodeficiency in 1 case,congenital esophageal atresia in 3 case. Gastroscopy found clusters of gray spots or jerry-built attachments (3 cases),Esophageal the week covered by gray jerry-built content, scope of 1/3-1/2 esophageal length,with esophageal lumen jams in 3 case. Large superficial ulcer in 2 cases. Le-sions involving the stomach and duodenum in 2 cases,one of which lesions involving the whole digestive gut. 6 cases by mucosa pathological examination or secretions smears identified as candida albicans infection. 3 cases of children with mild choose doxycycline tablets,treatment 2-3 weeks. 3 cases of children with severity choose Itra-conazole Capsules,treatment 3-4 weeks. Gastroscope review the digestive gut which was better than before. But 1 case was diagnosed immunodeficiency disease,death from lung infection. 1 case of whole digestive tract infec-tion,relapse after 3 month,at present is still in follow-up. Conclusion Children′s digestive tract of deep fungal infection is mainly characterized by vomiting,dysphagia and abdominal pain. Fungal can invade the whole diges-tive tract. Esophageal mucosa injury may be one of causes,and at the same time should pay attention to rule out congenital immunodeficiency. Diagnosis is dependent on the digestive endoscopy,mucosal biopsy.

Objective To investigate the expression and the possible clinical significance of serum Golgi protein(GP73)in infantile hepatitis syndrome(IHS)by different causes.Methods Totally 79 patients with IHS in Guangzhou Women and Children's Medical Center from February 2012 to December 2012 were enrolled in this study,including 15 cases with biliary atresia(BA)group,29 cases with infection(infection group),5 cases with neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD group),and 30 cases with unknown etiology(idiopathic infantile hepatitis group).At the same time,30 healthy infants were enrolled as healthy control group.The serum levels of GP73 were determined by quantitative enzyme-linked immunosorbent assay(ELISA),and the children's liver function[alanine aminotransferase(ALT),aspartate aminotransferase(AST),total bilirubin(TBIL),direct bilirubin(DBIL),alkaline phosphatase(ALP),γ-glutamyl trans-peptidase(γ-GT),total bile acid(TBA)and albumin(ALB)] were measured by turbidimetric inhibition immuno assay.Then,the corresponding data were statistically analyzed.Results Serum GP73 in BA group,infection group,NICCD group,idiopathic infantile hepatitis group and the healthy control group were(296.6±67.5)μg/L,(185.1±66.4)μg/L,(199.2±87.1)μg/L,(181.7±74.2)μg/L and(65.3±17.0)μg/L,respectively.Serum γ-GT levels in BA group,infection group,NICCD group,idiopathic infantile hepatitis group and healthy control group were(764.7±775.8)U/L,(448.2±352.7)U/L,(239.4±88.7)U/L,(283.3±377.2)U/L and(54.0±72.6)U/L,respectively.The levels of GP73 and γ-GT were significantly higher in infants with IHS,and the levels of GP73 and γ-GT in infants with BA were the highest(F=46.775,9.238,all P<0.05).There was a positive correlation between serum levels of GP73 and γ-GT(r=0.280,P<0.05),and there was no correlation between GP73 and ALT,AST,TBIL,DBIL,ALP,TBA,ALB(r=-0.061,-0.071,0.164,0.123,0.137,0.008,-0.047,respectively,all P>0.05).The receiver operating characteristic curve(ROC)constructed with GP73 showed a sensitivity of 80.0％and specificity of 82.8％with an area under the receiver(AUC)of 0.872 for diagnosis of BA,comparatively,a sensitivity of 66.7％and specificity of 71.9％were showed with a AUC of 0.731 when performed with γ-GT.Conclusions Serum GP73 concentration significantly increased in all liver disease groups,regardless of the etiology.Serum GP73 expression is significantly higher in infants with BA.Serum GP73 shows a superior sensitivity and specificity to γ-GT for diagnosis of BA,which might be useful for early diagnosis of BA and IHS with different causes.

Objective To investigate the infection and epidemiological characteristics of group A rotavirus (RV-A)and adenovirus in children with diarrhea in Guangzhou. Methods The colloidal gold technique was used to detect RV.A and adenovirus antigen in 2,171 stool samples from children with diarrhea in Guangzhou Women and Children′s Medical Center from January to December 2015,and the data were statistically analyzed. Results Among the 2,171 patients,the positive rate of RV-A infection was 17.96%and that of adenovirus infection 8.66%, and the co-infection rate of both virus was 3.45%. The positive rates between different genders were not significantly different(P > 0.05);the infectious time peak of RV-A was January(40.78%),followed by December(39.24%) and February(32.61%)and that of adenovirus infection was July(15.89%)and May(15.79%). The infectious peak of RV-A and adenovirus was December(7.29%),followed by January(7.01%). The peak age of infection ranged from 1y to 3y. Conclusion RV-A and adenovirus are the main pathogens of children diarrhea ,and the onset of virus infection has obvious seasonal change.

Objective To analyze the clinical, endoscopic and histopathological features of eosinophilic gastroenteritis ( EG) in children. Methods A retrospective study of 76 children with EG was performed to analyze clinical symptoms, laboratory and imaging results, endoscopic and pathological features, status of Helicobacter pylori ( H. pylori) infection, treatment and outcomes. Results The main clinical symptoms were abdominal pain in 55. 3%(42/76) cases, vomiting in 39. 5% (30/76) cases and hematochezia in 38. 2% cases( 29/76) . The hemoglobin level decreased significantly in 34 cases ( 44. 7%, 34/76). Peripheral blood eosinophil (EOS) count increased significantly in 9 cases (11. 8%,9/76) and EOS percentage increased significantly in 13 cases(17. 1%,13/76). Total serum IgE elevated in 32 cases ( 54. 2%, 32/59 ) . There were also 18 cases ( 36. 7%, 18/49 ) positive in serum allergen?specific immunoglobulin E ( sIgE) test and 25 cases ( 32. 9%,25/76) positive in fecal occult blood test. Among 51 cases of abdominal ultrasound examination, there were 7 cases of ascites, 4 cases of pelvis fluid and 3 cases of intestinal wall change. Endoscopic examination in 76 cases showed 63 cases ( 82. 9%) of mucosal hyperemia/edema,20 cases ( 26. 3%) of ulceration, 17 cases ( 22. 4%) of erosion, 11 cases ( 14. 5%) of nodularity or hyperplasia and 9 cases ( 11. 8%) of normal mucosa. The pathological examination showed mucosal inflammation with a large number of EOS infiltration(≥20 per HPF).There were 12 cases(15. 8%, 12/76) of H. pylori infection. Among the 76 cases, clinical symptoms improved significantly in 74 patients after treatment with dietary allergen avoidance, anti?allergy medications, antacids, montelukast and corticosteroid, and the total efficacy was 97. 4%. The efficacy of dietary allergen avoidance, anti?allergy medications, antacids and montelukast was 93. 8%( 61/65 ) . The efficacy of corticosteroid was 86. 7%(13/15). Conclusion The clinical manifestations and endoscopic characteristics of EG in children lack specificity. In terms of diagnosis, the elevated total serum IgE and the positive sIgE test may be taken as reference for the diagnosis of EG. The definite diagnosis is based on pathological examination ( EOS infiltration≥20 per HPF).While in terms of treatment, dietary allergen exclusion, anti?allergy medications, antacids and montelukast are highly effective, which can be taken as the first option. There is no need of corticosteroid as routine therapy.

Objective To investigate the efficacy and safety of enriched-calorie formula in post-operative infants with congenital heart disease and malnutrition.Methods All malnourished infants less than 6 months diagnosed congenital heart disease: ventricular septal defect and had undergone surgery in Guangzhou Women and Children`s Medical Center from December 1,2014 to May 30,2015 were included in this study.All cases were randomly divided into intervention group(energy-enriched formula,intervention group)and control group(standard formula,control group)for enteral nutrition intervention and observed for 3 months.Body mass,body length,upper arm circumference,blood prealbumin(PA),retinol binding protein(RBP),and B-terminal pro-brain natriuretic peptide(NT-proBNP)were measured before and after ICU,after discharge,and 1 month and 3 months after operation.Results Fifty-one cases were in intervention group and 50 cases in control group,respectively.There were no significant differences in body mass,body length,arm circumference,PA,RBP,mean enteral nutrition starting time,mechanical ventilation time,length of ICU stay,hospitalization time,and average fluid intake between the two groups(all P>0.05).The average caloric intake in intervention group was significantly higher than in control group [(437.24±6.68)kJ vs.(312.43±86.22)kJ,P=0.001].There was no significant difference in NT-proBNP,PA,and RBP at different time points between the two groups(all P>0.05).The improvement of nutrition in intervention group was significantly higher than that in control group at 1 month(25.0％vs.4.9％,P=0.011)and 3 months(64.1％vs.15.7％,P<0.001)after operation.Body mass increased in intervention group [(0.067±0.348)kg] compared with that in control group,and decreased [(0.125±0.425)kg] in control group(P=0.015).Body weight[(5.46±1.36)kg vs.(4.80±1.01)kg,P=0.008],weight for age Z score(WAZ)(-2.79±1.28 vs.-3.75±1.27,P<0.001),and height for weight Z score(WHZ)(-2.47±1.43 vs.-3.62±1.77,P=0.001)one month after surgery were significantly higher than those before operation.Body weight [(6.78±1.42)kg vs.(5.72±1.01)kg,P<0.001] arm circumference [(12.80±1.17)cm vs.(12.00±0.90)cm,P<0.001],WAZ(-1.60±1.17 vs.-3.10±1.40,P<0.001),height for age Z score(HAZ)(-1.41±1.63 vs.-2.10±1.41,P=0.034),and WHZ(-0.86±1.31 vs.-2.59±2.13,P<0.001)of the two groups at 3 months postoperative were significantly higher than those before operation,and the growth rate of intervention group was faster than control group.There were no significant adverse reactions in both groups.Conclusion Calorie-enriched formula powder can help malnourished infants to catch up after congenital heart disease surgery.