Correlation between T follicular helper cells and eosinophilic gastroenteritis in children / 中华实用儿科临床杂志

Objective:To investigate the role and clinical significance of T follicular helper (Tfh) cells in the pathogenesis of eosinophilic gastroenteritis (EG) in children.Methods:A total of 17 children diagnosed with EG in the Department of Gastroenterology, Children′s Hospital of Nanjing medical University from October 2018 to January 2020 were recruited as EG group.During the same period, 15 children diagnosed with colon polyps were included as control group.Flow cytometry was used to detect Tfh cells and their functional molecules, including inducible costimulatory molecules (ICOS) and programmed cell death protein 1 (PD-1) in peripheral blood of the 2 groups.Results:The median (interquartile range) of Tfh cell frequency in peripheral blood of children with EG group was 7.3 (2.6)%, which was significantly higher than that of controls 2.8 (1.4)% ( P<0.05). There were significant differences in the median (interquartile range) of ICOS [1.5 (1.3)% vs.0.1 (0.2)%] and PD-1 expressions [1.8 (3.2)% vs.0.7 (0.6)%] on Tfh cells between children with EG group and control group (all P<0.05). The frequency of Tfh cells in the peripheral blood of children with EG was positively correlated with the expressions of ICOS ( r=0.746, P<0.05) and PD-1 ( r=0.893, P<0.05), and immunoglobulin E (IgE) level ( r=0.587, P<0.05). Conclusions:The frequency of Tfh cells in peripheral blood of children with EG significantly increases, which are proliferative and overexpressed with ICOS and PD-1.Moreover, the frequency of Tfh cells of EG patients is positively correlated with the level of IgE.The abnormal expression of Tfh cells may play a promoting role in the mechanism of EG.

Regional Mechanical Properties of the Sclera / 医用生物力学

Objective To investigate the differences in mechanical properties of the sclera in different regions. Methods The sclera of sus scrofa was divided into 3 regions, namely, anterior, equatorial and posterior area. Local indentation was performed on different areas of the whole sclera. Strip specimens of different regions were circumcised along the equatorial direction, and subjected to uniaxial stretching by INSTRON 5544. Results Within the normal physiological stress range, the stiffness at anterior, equatorial, and posterior area of the sclera measured by local indentation was (0.91±0.21), (0.6±0.16), (0.39±0.13) MPa, respectively. The elastic modulus at anterior, equatorial, and posterior area of the sclera measured by uniaxial stretching was (1-28±0.37), (0.95±0.31), (0.72±0.28) MPa, respectively. Conclusions The local indentation could reflect regional mechanical properties of the sclera. The anterior sclera performed a higher stiffness than the equatorial and posterior areas. The results provide references for further study on the pathogenesis of ocular diseases including myopia.

Clinical effect of mechanical thrombectomy for acute cerebral infarction caused by relatively small vessel occlusion / 中国综合临床

Objective To evaluate the safety and effectiveness of mechanical thrombectomy with Solitaire stent in intracerebral relatively small artery occlusions,such as the anterior cerebral artery,the posterior cerebral artery, the middle cerebral artery M2-M3. Methods The clinical data of thirteen cases of acute cerebral infarction caused by occlusion of relatively small vessels ( anterior cerebral artery, posterior cerebral artery, middle cerebral artery M2-M3 ) caused by intravenous thrombolytic time window with relative small vascular occlusion in our hospital were reviewed and analyzed. The NIHSS score, occlusion of vascular recanalization,surgical complications,and clinical prognosis (3 months mRs) were analyzed before and after discharge,including 6 cases of M2-M3 occlusion in the middle cerebral artery,3 cases of anterior cerebral artery occlusion and 4 cases of posterior cerebral artery occlusion. Results In 13 cases, the time window of thrombectomy was 3. 5～7. 0 h,the time from onset to reflow was (4. 53±3. 21) h,and 13 cases of blood vessels were completely repassed,of which 11 cases were grade 3 TICI,and 2 cases of 2b grade in TICI classification. 2 cases of postoperative small lateral fissure and subarachnoid hemorrhage. The score of NIHSS was reduced from (19. 53±1. 62)points to (3. 15±0. 41)points at 2 weeks. The difference was statistically significant (t=1. 763, P<0. 01);the mRs scores of 90d were 0 points 7 cases(53. 85％),1 points 3 cases(23. 08％),2 points cases ( 23. 08％) ,death 0 case. Conclusion The patients with acute cerebral infarction caused by relatively small vascular occlusion, such as the anterior cerebral artery, the posterior cerebral artery and the middle cerebral artery ( M2-M3) are treated with stent embolectomy in the time window. The rate of vascular repassage is high and the complications are low, and the patient′s disability rate can be significantly reduced and the clinical prognosis is better.

Application of home care platform in follow-up management of patients with gestational diabetes mellitus / 中华护理杂志

Objective To construct the diabetic home care platform and to explore its effects in follow-up man agement of patients with gestational diabetes mellitus.Methods The diabetic home care platform contained clientsides for both nurses and patients,who could use the platform via identification and binding technology.Totally 200 patients with gestational diabetes mellitus in outpatient department from November 2015 to December 2016 were recruited using convenience sampling.Patients were divided into the experimental group and the control group with 100 cases in each group based on the voluntary principle.Both groups received routine follow-up management,and the experimental group also used diabetic home care platform management.Results There were no differences in gestational weeks,mode of delivery,postpartum hemorrhage,other complications,fetal intrauterine distress,neonatal hypoglycemia,and deformity between two groups(P＞0.05).Rate of macrosomia in the experimental group was lower than that in the control group(P＜0.05),and rate of breastfeeding was higher than the control group(P＜0.05).The total score of Diabetes Self-Care Activeties-6 and scores of each dimension in the experiential group were higher than those in the control group 8 weeks after intervention(P＜0.001);the total score of Problem Areas in Diabetes Scale and scores of each dimension in the experimental group were lower than those in the control group(P＜0.05).Conclusion Application of diabetic home care platform is helpful for fetal weight control,and can improve rate of breastfeeding,promote women's self-management behavior and emotional disorders.

First-trimester ultrasound screening for prenatal diagnosis of fetal congenital heart disease / 中华围产医学杂志

Objective To investigate the value of standardized ultrasound screening in diagnosis of fetal congenital heart disease (CHD) during the first trimester. Methods This study retrospectively analyzed the clinical data of 8 383 fetuses who received ultrasound screening during the first trimester in the Dongguan Maternal and Child Health Hospital from September 2015 to December 2016. Standardized ultrasound was performed to observe fetal heart position, apical direction, apical four-chamber view, three vessels and trachea view and the thickness of nuchal translucency (NT). Fetuses with thickened NT or fetal CHD observed during the first and second trimester were followed up. Pregnancy outcomes and the growth of newborns within one year after birth were recorded and analyzed. Pathological results after the termination of pregnancy were compared with the results of routine karyotyping and chromosome microarray analysis (CMA). Results (1) A total of 27 cases of fetal CHD were identified during the first trimester giving a detection rate of 0.32% (27/8 383). These included ten (37.0%) of single atrium and/or single ventricle, seven (25.9%) of endocardial cushion defect (including two complicated by persistent arterial trunk), three (11.1%) of hypoplastic right heart syndrome, three (11.1%) of interventricular septal defect, two (7.4%) of hypoplastic left heart syndrome, one (3.7%) of mirror-image dextrocardia and one (3.7%) of right atrial enlargement and severe tricuspid regurgitation. Nineteen out of the 27 cases had NT thickening (NT≥3.0 mm) and 17 of them had a cystic hygroma (NT≥6.0 mm). Among the 27 cases, 22 were terminated in the first trimester which autopsy results were consistent with ultrasound and the other five were rescreened during the second trimester. Thirteen out of the 27 cases received chorionic villus sampling, and seven of them were found to have chromosomal abnormalities by karyotyping and CMA, among whom one was microdeletion of 22q11. (2) Twenty-one cases of CHD were detected in the second-trimester ultrasound screening, including five initially identified in the first trimester. These cases included four (19.0%) of complex cardiac malformations (with three or more malformations), four (19.0%) of interventricular septal defect, three (14.3%) of dextroaortic arch, left subclavian artery vagus and 'U' shaped vascular ring, three (14.3%) of hypoplastic right heart syndrome (including one complicated by coronary artery-right ventricular fistula and one by interventricular septal defect), two (9.5%) of transposition of the great arteries, two (9.5%) of tetralogy of Fallot, one (4.8%) of hypoplastic left heart syndrome, one (4.8%) of Taussig-Bing anomaly and one (4.8%) of coarctation of the aorta. Among the 16 cases first identified in the second trimester, eight had NT thickening, including one with cystic hygroma. Among the 21 cases, two were lost to follow-up after being transferred to another hospital; four with negative results in karyotype analysis and CMA were delivered vaginally at term (37-40 gestational weeks) with 1-min Apgar scores of ten points and postpartum ultrasound of the baby was consistent with the second-trimester ultrasound screening; 15 were terminated and the autopsy confirmed those findings in the second-trimester ultrasound screening. Eleven out of the 21 cases received amniocentesis and five of them were found to be abnormal according to karyotype analysis and CMA, including one of microdeletion of 22q11. Conclusions Standardized first-trimester ultrasound screening is important and of great clinical value in the diagnosis of fetal CHD. Increased NT thickness could be a key indicator of fetal CHD and chromosomal abnormalities in early pregnancy. CMA may facilitate detecting the abnormality of genetic material in fetuses with normal chromosome karyotype.

The association between polymorphisms of Eotaxin gene and the allergy to cow's milk protein in infants / 中华实用儿科临床杂志

Objective To assess the association between-426C＞T,-384A＞G,+ 67G＞A polymorphisms in Eotaxin gene and cow's milk protein allergy (CMPA) in infants.Methods One hundred and six patients with CMPA who were hospitalized at Children's Hospital Affiliated to Nanjing Medical University from July 2014 to July 2015 were selected as CMPA group,and 124 healthy infants chosen from Ninghai Road Community Health Service Centers at the same time were selected as healthy control group,and the serum levels of Eotaxin in 2 groups were measured by enzyme-linked immunosorbent assay (ELISA),polymerase chain reaction (PCR) and DNA direct sequencing technology were used to detect the genotypes for single nucleotide polymorphisms (SNPs) of-426C ＞ T,-384A ＞ G,and + 67G ＞ A in Eotaxin gene.The association between the SNPs of-426C ＞ T,-384A ＞ G,and + 67G ＞ A in Eotaxin gene and CMPA,the peripheral blood eosinophil counts,serum Eotaxin levels,and serum total immunoglobulin E levels were analyzed.Results For-426C ＞ T,the frequency of each genotype of the CMPA group was CC,CT,TF (79.25％,19.81％,0.94％),while the frequency of each genotype of the healthy control group was CC,CT,TT(88.71％,8.06％,3.23％).There was a significant difference in the genotype frequency in-426C ＞ T between the CMPA group and the healthy control group (x2 =7.83,P ＜ 0.05).The individuals with heterozygous genotype(CT) had a 1.75-fold increased risk of developing CMPA compared with the individuals with wild-type genotype (CC) [odds ratio (OR) =2.75,95％ confidence interval(CI):1.23-6.15,P ＜ 0.05].For position + 67G ＞ A,CMPA patients with a genotype including variant nucleotide had lower peripheral blood eosinophil counts [(0.48 ± 0.06) × 109/L] and serum Eotaxin levels [(157.67 ± 12.72) ng/L] than those with wild-type genotype [(0.85 ± 0.09) × 109/L,(286.96 ± 33.23) ng/L] (F =10.30,5.75,all P ＜ 0.05).Conclusions Polymorphism of the Eotaxin gene (-426C ＞ T) was associated with the susceptibility to CMPA.Polymorphism of the Eotaxin gene(+ 67G ＞ A) was related to the blood eosinophil counts and the serum Eotaxin levels in children with CMPA.

A comparison of the forces applied to a manikin during laryngoscopy with anesthesiological nurses and seniority anesthesiologists use laryngoscopes / 中国实用护理杂志

Objective To observe and compare the different forces between doctors and nurses used visible laryngoscope endotracheal intubation applied to the oropharyngeal organization. Methods 10 nurses (to carry on laryngoscope intubation theory, and had certain study period practice) were chosen in group A and 10 clinical anaesthetize doctors (to be possible correctly used visible laryngoscopes) were chosen in group B, two groups used the visible laryngoscope on the same model person body inserted the tube, computer monitor software recorded results. Results The impulse force was (25.57±3.37) N·s and insert tube time was (25.3±3.3) s in group A which were higher than (16.47±2.99) N·s and (16.2±3.0) s in group B (t=2.550 and 2.207, P0.05). Conclusions There is no statistics difference forces applied to the oropharyngeal organization between nurses and anaesthesiologists using visible laryngoscope intubation, and visible laryngoscope intubation technique is easy to learn and it is feasible by the nurse to master the technology and applied to anesthesia intubation care and emergency care.

Hyperelastic analysis for the passive behavior of fox extraocular muscles in vitro / 医用生物力学

Objective To determine the hyperelastic parameters of shear modulus (μ) and curvature parameter (α) of extraocular muscles (EOMs) in Ogden hyperelastic model,so as to provide theoretical basis for clinical EOM surgery by numerical modeling.Methods The passive behavior of fox EOMs in vitro was determined by the uniaxial tensile test,and the hyperelastic analysis was conducted using the first-order Ogden model and ABAQUS software.Results The experimental result showed that the passive behavior of fox EOMs was nonlinear.The corresponding hyperelastic parameters μ =(6.57 ± 3.76) kPa and oα =8.16 ± 1.63 were obtained.When the strain of EOMs was larger than 6％,there were no statistical differences between the experimental result and the calculation result of the first-order Ogden hyperelastic model (P ＞ 0.05).Both the calculation result and the simulation result well fitted to the experimental result.Conclusions The hyperelastic parameters identified in this study can be used as the input for the corresponding numerical modeling of fox EOMs.

Clinical and endoscopic features of pediatric eosinophilic gastroenteritis in 49 cases / 中华实用儿科临床杂志

Objective To explore the clinical features and endoscopic manifestations of eosinophilic gastroente-ritis(EG)in children.Methods A retrospective analysis was conducted of the clinical manifestation,laboratory examination,endoscopy(upper and/or colonoscopy)performance,diagnosis and treatment of 49 cases of patients who were diagnosed as EG in Children's Hospital of Nanjing Medical University from July 2013 to July 2015.Results The common clinical manifestations of EG in children were hematochezia(23 cases),diarrhea(20 cases),vomiting(18 cases)and abdominal pain(15 cases).The ages of children admitted to hospital for the first time ranged from 1 month and 7 days old to 13 years and 7 months old,and the mean age was 59.4 months old,in which most patients were younger than 1 year old,accounting for 38.77％(19 cases)of all.Peripheral blood eosinophilia was present in 20 cases(40.82％)of the patients,and only 6/18 cases(33.33％)of the patients had elevated serum IgE.Upon endoscopic analysis,the lesions involved esophagus(4 cases),stomach(14 cases),duodenum(20 cases),small intestine(15 cases),colon(28 cases)and rectum(6 cases),and the most common manifestation under gastroscopy was mucosal hyperemia edema(27 cases)and erosion(9 cases),while the most common manifestation under colonoscopy was mucosal hyperemia edema(25 cases)and nodular hyperplasia(24 cases).All patients improved with food restriction,in which 8 cases were treated with glucocorticoid while 9 cases with oral Singulair and 9 cases with oral Loratadine.All children with symptoms were alleviated somewhat,but 5 cases of them relapsed after drug withdrawal.Conclusions The clinical manifestations of EG in children varied and were mainly hematochezia,vomiting,diarrhea and abdominal pain.Some patients had the elevated peripheral blood eosinophilia and serum IgE.The most common manifestations under gastroscopy were mucosal hyperemia edema and erosion while the most common manifestations under colonoscopy were mucosal hyperemia edema and nodular hyperplasia.

Diagnostic value of coagulation function index in children with ulcerative colitis / 中华实用儿科临床杂志

Objective To explore the diagnostic value of prothrombin time(PT),activated partial thromboplastin time(APTT),fibrinogen(FIB),D-Dimer(DD),antithrombin Ⅲ(ATⅢ),platelet(PLT)in activity and severity assessment of ulcerative colitis(UC),and to analyze whether they could evaluate the degree of activity UC in children.Methods The data of UC patients in the Department of Gastroenterology,Children's Hospital of Nanjing Medical University from January 2012 to September 2016 were analyzed,25 cases of remission and 36 cases of active UC patients were selected as the study subjects.Thirty healthy children were selected as healthy control group,combined with the coagulation function indicators for analysis.Results Receiver operating characteristic area under the curve(AUC)of PT,APTT,FIB,DD,ATⅢ and PLT in UC patients was 0.659,0.840,0.744,0.776,0.599 and 0.792,the activity of UC patients was 0.849,0.889,0.836,0.912,0.964 and 0.966,respectively.The results of PT,APTT,FIB,DD and PLT in children with active UC were significantly higher than those in the healthy control group,and ATⅢ was significantly lower than that in the healthy control group.Compared with the healthy controls,the levels in remission UC patients were not significantly different(P>0.05).The 3 subgroups of activity UC had no significant differences among PT and APTT(F=0.652,1.755,all P>0.05),However,there were significant differences among FIB,DD,ATⅢ and PLT(F=66.495,32.817,88.284,22.892,all P<0.05).FIB,DD and PLT were moderately positively correlated with severity of activity UC patients(r=0.857,0.648,0.654,all P<0.05),and ATⅢ had moderately negative correlation(r=-0.789,P<0.05).Progressive regression analysis showed that the severity of UC was associated with FIB,DD and ATⅢ(R2=0.830,F=39.962,P<0.05).Conclusion FIB,DD and ATⅢ can be used as index for the activity and evaluation of UC.

Study on colorectal distension with partially automated and individualized insufflation of air for dual-energy CT colonography / 重庆医学

Objective To study the compliance of examinees,and effectiveness of colorectal distension with partially automated and individualized insufflation of air for dual-energy CT colonography.Methods Forty-six healthy adult volunteers without history of conditions affecting gastrointestinal motor function were enrolled in this study.One day before CT examination,volunteers were asked to orally administered 60 mL 4% diatrizoate meglumine five times for fecal tagging.Air was insufflated by using an inflator in a partially automated and individualized manner.The volunteers were initially asked to assume the right lateral decubitus position,then slowly turn to the supine position.Insufflation rate began at 1.5 L/min,and decreased to 0.5 L/min at later stage.The necessity and volume of air insufflation were decided according to effectiveness of colorectal distension on CT scout images,self-reported sensation of volunteers,and intestinal pressure.Dual-energy CT scanning was performed,and dual-energy blended images were acquired.Compliance of volunteers was statistically analyzed.The effectiveness of colorectal segments distension was statistically analyzed by using Kruskal-Wallis H test.Results No abdominal pain,bloating,nausea or vomiting were noted in the 46 volunteers.All volunteers easily accepted colorectal insufflation of air,with grade 1 compliance.The effectiveness of colorectal distension of grades 1,2,3 and 4 were 0%,2.1%,5.1% and 92.8%,respectively.The difference of effectiveness of colorectal segments distension had no statistical significance(χ2=6.19,P=0.288).The effectiveness of insufflation was poor in 6 colorectal segments,including 2 in sigmoid colon and 2 in rectum.Effectiveness of insufflation was suboptimal in 14 colorectal segments,including 4 in descending colon,4 in sigmoid colon,and 3 in rectum.Conclusion Compliance of examinees with partially automated and individualized insufflation of air for dual-energy CT colonography is excellent,with good effectiveness of colorectal distension.

A case report of cerebrotendinous xanthomatosis with novel mutations in CYP27A1 gene / 临床儿科杂志

Objective To discuss the clinical features,hepatic pathology,and prognosis of cerebrotendinous xanthomatosis in a child caused by CYP27A1 mutation.Methods Clinical features of a child with cerebrotendinous xanthomatosis were retrospectively analyzed,and the related literatures viewed.Results The child had different degrees of cholestasis,hepatomegaly,elevated transaminases,normal-glutamyl GGT(γ-GT) and normal total bile acid.The hepatic pathology showed intrahepatic cholestasis,inflammatory cell infiltration and expansion and hyperplasia of bile capillary.Gene testing found heterozygous mutations of CYP27A 1 (c.1263+ l G＞A/c.1477-3C＞G) in the child.The variant of c.1477-3C＞G is a novel mutation.Conclusions The possibility of bile acid synthesis disorder should be considered when infants have cholestasis,elevated transaminase,hepatomegaly,and normal or reduced γ-GT and total bile acid.Gene testing should be used for early diagnosis,treatment to improve prognosis.

Effect on colorectal cleansing of CT colonography with gulping down bisacodyl before or after oral taking polyethylene glycol / 重庆医学

Objective To comparative study the effect on colorectal cleansing of CT colonography with gulping down 10 mg bisacodyl before or 1 h after oral taking 2 liter polyethylene glycol .Methods Forty participants with informed consent were appor‐tioned to group A ,group B randomly ,20 cases in each group .On the day before CT colonography ,participants in group A oral took 20 mL of 40% W/V barium sulfate prior to 3 mealtime ,and 20 mL of 60% diatrizoate meglumine diluted in 250 mL of water after supper ,then gulped down 10 mg bisacodyl enteric‐coated tablets 1 hour before oral taking 2 liter polyethylene glycol electrolyte so‐lution .Participants in group B were the same as that in group A ,with the exception of gulping down 10 mg bisacodyl enteric‐coated tablets 1 hour after oral taking 2 liter polyethylene glycol electrolyte solution .Cleansing efficacy of stool and fluid ,and attenuation value of remainder fluid between the two groups were analyzed statistically .Results In group A ,score of cleansing efficacy of stool (1 .96 ± 0 .11) was lower than that in group B (2 .01 ± 0 .12) ,segments with good cleansing efficacy of stool (87/120 segments , 72 .50% ) was higher than that in group B (83/120 segments ,69 .17% ) ,the difference was not statistically significant (P>0 .05) .In group A ,score of cleansing efficacy of fluid (1 .50 ± 0 .06) was lower than that in group B (1 .53 ± 0 .06) ,segments with good cleansing efficacy of fluid(113/120 segments ,94 .17% ) was higher than that in group B (111/120 segments ,92 .50% ) ,the differ‐ence was not statistically significant (P>0 .05) .Attenuation value of remainder fluid [(729 ± 29)HU ] in group A was higher than that in group B[(653 ± 25)HU] ,the difference was statistically significant(P<0 .05) .Conclusion Gulping down 10 mg Bisacodyl before or after oral taking 2 liter polyethylene glycol has no effect on cleansing of stool and fluid ,with good cleansing efficacy .The former has better cleansing efficacy of fluid ,is beneficial to detecting polyps for CT colonography .

Application of the improved abdominal rotation card method in insulin injection / 中国实用护理杂志

Objective To explore the effect of the improved abdominal rotation card method in insulin injection. Methods A total of 100 hospitalized diabetes patients were randomly divided into control group (n=50) and observational group (n=50) according to the random number method. In the control group, insulin was injected to the subcutaneous tissue of abdomen with traditional method annular rotating method. Insulin was injected using improved abdominal rotation card method in the observational group. Compare accuracy and mastery rate of injection site rotation between the two groups. Compare fasting blood glucose (FBG), postprandial 2H blood glucose (PBG), HbA1c, the incidence of hypoglycemia and endermic induration between the two groups after three months. Results The nurses in the observation group had higher accuracy rate of the injection site rotation compared to the control group [98.6%(690/700) vs. 38.6%(270/700),χ2=584.66, P<0.01]. Mastery rate of the injection site rotation for the patients in the observation group were significantly higher than the control group [70.0% (35/50) vs. 20.0% (10/50), χ2=25.74, P < 0.01]. The incidence of endermic induration were significantly lower in observation group compared to the control group [2.0% (1/50) vs.16.0% (8/50), χ2=5.98, P < 0.01]. The incidence of hypoglycemia were significantly lower in observation group compared to the control group [4.0%(2/50) vs. 16.0%(8/50),χ2=4.00, P<0.01]. Conclusions The new abdominal rotation method in insulin injection can be a safe and effective therapy in patients with type 2 diabetes.

Clinical features and JAGI gene analysis of 2 cases with Alagille syndrome / 中华实用儿科临床杂志

Objective To carry out the detection of JAGI gene in children with chronic cholestasis and to im-prove the diagnostic level and understanding of Alagille syndrome. Methods Two cases of chronic cholestasis with multiple organ involvement were selected as the research subjects and their clinical data,laboratory test results were col-lected. Two milliliter peripheral intravenous heparin anticoagulan blood was drawn from each patient. All fragments of 26 exons of the JAGI gene were amplified by polymerase chain reaction - sequence based on typing method. Results One patient with chronic cholestasis,heart murmur and dysmorphic face showed bile duct paucity in liver biopsy and a novel heterozygous mutation c. 809 809delG(p. G270Dfs*142)in 6 exon. Abnormal amino acid replaced JAG1 protein and resulted in truncation of the JAG1 protein. The part of epidermal growth factor(EGF)like repeats region loss and the cysteine rich region completely lost. One case with typical chronic cholestasis and dysmorphic face showed a known IVS20 - 2 5delTAAG heterozygous mutation which resulted in splice site changes. Conclusion A novel JAGI gene mutation c. 809 809delG(p. G270Dfs*142)is helpful to screen JAGI gene of Notch signal transduction pathway for chronic cholestasis with multiple organs involvement in children.

Effect of concomitant administration of tryptophan on depression-related and anxiety-like behaviors of fluoxetine treated adult rats / 中华神经医学杂志

Objective To investigate the effects of concomitant administration oftryptophan on depression-related and anxiety-like behaviors of fluoxetine treated adult rats.Methods Sixty male Wistar rats were divided into the following groups by randomized block design:control group,L-tryptophan group,fluoxetine group,and experimental group (n=15);9 g/L sodium chloride injection (5 ml/kg),50 mg/kg L-tryptophan,10 mg/kg fluoxetine and both 50 mg/kg L-tryptophan and 10 mg/kg fluoxetine were,respectively,given to the rats in the above four groups via intragastric administration;depression models were established by 21 d-long-term chronic,medium and unpredictable stress stimulation.The modified forced swimming test (FST) was used to detect the times spent in immobility behavior,swimming behavior and climbing behavior;and elevated plus-maze (EPM) was employed to detect the times spent in open arms,closed arms and center area,and ratio of entries into open arms to the total entries;while tryptophan levels in cerebrospinal fluid were measured by high performance liquid chromatography.Results The times spent in immobility behavior,swimming behavior and climbing behavior showed significant differences among the four groups (P＜0.05);both fluoxetine and tryptophan had significant influences in FST results.The times spent in open arms,closed arms and center area showed significant differences among the four groups (P＜0.05);fluoxetine had significant influences in EPM results,and tryptophan had no significant influences in times spent in open arms,closed arms and center area;moreover,there was no significant interaction between tryptophan and fluoxetine treatments in parameters of FST and EPM.Significant difference of tryptophan level was noted among the four groups (F=6.874,P=0.002);that in the experimental group was significantly higher than that in the fluoxetine and control group (P＜0.05).Conclusions Tryptophan can increase depressive-related behavior,but not alter anxiety-like behavior.Fluoxetine can decrease depression-related behavior,but induce anxiety.Concomitant use oftryptophan and fluoxetine does not alter anxiety-like behavior and the antidepressant effect offluoxetine is not enhanced.

Neonatal intrahepatic cholestasis caused by citrin deficiency due to SLC25 A1 3 gene mutations:a clinical analysis of 2 1 cases in Nanjing,China / 临床肝胆病杂志

Objective To investigate the incidence of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)in neonates with idiopathic neonatal cholestasis (INC)in Nanjing,China,SLC25A13 gene mutations in these neonates,and clinical features.Methods A total of 152 neonates with INC,who were admitted to the Affiliated Nanjing Children's Hospital of Nanjing Medical University from Sep-tember 2009 to August 2013,underwent gene analysis for detecting SLC25A13 gene mutations.The neonates were divided into NICCD group,who had been diagnosed definitely,and INC group at a ratio of 1∶2,considering the age and gender.Several biochemical indices were compared between the two groups.Comparison of continuous data between the two groups was made by Mann-Whitney U test after Bonferroni correction.Results There were 21 confirmed cases of NICCD (21/152,13.82%)among the 152 neonates with INC;five types of SLC25A13 mutations were identified in the 21 neonates with NICCD,including 851_854del (27/42,64.29%),IVS6+5 G→A (7/42, 16.67%),1638ins23 (5/42,11.90%),IVS11 +1 G→A (2/42,4.76%),and Q259X (1/42,2.38%).The alanine aminotransferase (ALT)level,aspartate aminotransferase (AST)level,bile acid concentration,albumin level,fasting blood glucose,blood ammonia,and prothrombin time for the NICCD group were 39.42 ±23.40 U/L,124.85 ±92.65 U/L,142.43 ±24.34μmol/L,30.66 ±2.70 g/L,2.79 ± 0.54 mmol/L,117.57 ±27.88 μmol/L,and 14.03 ±2.79 s,respectively,versus 136.02 ±113.67 U/L,226.12 ±129.26 U/L,80.47 ± 31.53 μmol/L,36.87 ±4.96 g/L,3.14 ±0.45 mmol/L,76.43 ±20.80 μmol/L,and 11.40 ±1.55 s for the INC group.The NICCD group had significantly lower ALT and AST levels than the INC group (Z=-5.02,P=0.000;Z=-3.66,P=0.000);the NICCD group had a significantly higher bile acid concentration than the INC group (Z=-5.58,P=0.000);the NICCD group had significantly lower albumin level and fasting blood glucose than the INC group (Z=-4.52,P=0.000;Z=-2.56,P=0.010);the NICCD group had a significantly higher blood ammonia level than the INC group (Z=-4.75,P=0.000);the NICCD group had a significantly longer prothrombin time than the INC group (Z=-4.10,P=0.000).Conclusion Citrin deficiency due to SLC25A13 gene mutations is an im-portant cause of INC in Nanjing.The three most common mutations are 851_854del,IVS6+5 G>A,and 1638_1660dup23,which account for 92.86% of the SLC25A13 gene mutations.More attention should be paid to clinical analysis and detection of SLC25A13 gene mutations to confirm the diagnosis of NICCD.

Investigation of Helicobacter pylori infection among children who underwent gastroscopy from 2001 to 2010 in Nanjing Area / 中华实用儿科临床杂志

Objective To investigate Helicobacter pyloric (Hp) infection in children who underwent gastroscopy in Nanjing area.Methods From Jan.2001 to Dec.2010,2 990 pediatric patients with gastrointestinal symptoms who underwent endoscopy and Hp rapid urease test of gastric mucosa specimens.Results There were 2 990 patients who underwent gastroscopy during the 10 years including 1 718 cases of male and 1 272 cases of female.The rate of Hp infection was 53.8％ (924/1 718 cases) and 52.4％ (667/1 272 cases) in male and female,respectively.There was no significant difference (x2 ＝ 0.532,P ＞ 0.05).From Jan.2001 to Dec.2005,611 patients were tested and the rate of Hp infection was 66.9％ (409/611 cases).From Jan.2006 to Dec.2010,2 379 patients were tested and the rate of Hp infection was 49.7％.There was significant difference(x2 =58.13,P =0.01) between the 2 groups.The rate of Hp infection were 49.6％,48.1％,55.2％,60.0％ in 0-6 years group,＞6-9 years group,＞9-12 years group,and ＞ 12 years group,respectively.There was significant difference among the 4 different age groups (x2 =23.66,P ＜ 0.01).The rate of Hp infection in nodular gastritis(61.4％) was higher than that in chronic superficial gastritis (50.6％).There was significant difference between the 2 groups (x2 ＝ 7.42,P ＜ 0.01).The rate of Hp infection in allergic purpura (46.2％) was higher compared with the children with normal gastroscopy results (15.9％).There was significant difference between the 2 groups (x2 =10.19,P ＜ 0.01).Conclusions There is gradually downward trend by year in the rate of Hp infection of children who underwent gastroscopy in Nanjing area by year.The rate of Hp infection is increasing with the age after the age of 6 years.Hp infection may play a role in the nodular gastritis and allergic purpura.

European Society for Pediatric Gastroenterology, Hepatology, and Nutrition Guidelines for the diagnosis of coeliac disease in 2012 / 中华实用儿科临床杂志

Diagnostic criteria for coeliac disease(CD) from the European Society for Paediatric Gastroenterology,Hepatology,and Nutrition were published in 1990.Since then,the autoantigen in CD,tissue transglutaminase had been identified;CD-specific antibody tests had improved.The perception of CD had changed greatly.A panel of 17 experts defined CD and developed new diagnostic criteria based on the Delphi process in 2012.The 2004 National Institutes of Health/Agency for Healthcare Research and Quality report and a systematic literature search on antibody tests for CD in paediatric patients covering the years 2004 to 2009 was the basis for the evidence-based recommendations on CDspecific antibody testing.In group of children with symptoms suggestive of CD,the diagnosis of CD is based on symptoms,positive serology,and histology that is consistent with CD.If immunoglobulin A anti-tissue transglutaminase type 2 antibody titers are high (＞ 10 times the upper limit of normal),then the option is to diagnose CD without duodenal biopsies by applying a strict protocol with further laboratory tests.In group of asymptomatic children at increased risk for CD,the diagnosis of CD is based on positive serology and histology.Human leukocyte antigen-DQ2 and human leukocyte antigen-DQ8 testing is valuable because CD is unlikely if both haplotypes are negative.The aim of the new guidelines was to achieve a high diagnostic accuracy and to reduce the burden for patients and their families.