A preliminary study of the role of neutrophil extracellular traps in patients with primary biliary cholangitis / 临床肝胆病杂志

Objective To investigate the expression level of neutrophil extracellular traps (NET) in the peripheral blood and liver tissue of primary biliary cholangitis (PBC) patients and its correlation with clinical biochemical parameters. Methods A total of 24 PBC patients who were admitted to Renji Hospital, Shanghai Jiao Tong University School of Medicine, from August 2016 to August 2020 were enrolled, as well as 8 patients with primary sclerosing cholangitis (PSC) and 19 patients with autoimmune hepatitis (AIH) matched for age, and 19 healthy individuals were enrolled as healthy control group (HC group). The serum level of myeloperoxidase (MPO) was measured, and its correlation with clinical indices were analyzed. Immunofluorescence assay was used to measure the expression of NET in the liver of PBC patients, and an in vitro experiment was to compare the ability of peripheral blood neutrophils to produce NET between PBC patients and healthy controls. Normally distributed continuous data were expressed as mean±standard deviation, and the independent samples t -test was used for comparison between two groups; for the non-normally distributed continuous data expressed as M ( P 25 - P 75 ), the Kruskal-Wallis H test was used for comparison between multiple groups, and the Mann-Whitney U test was used for comparison between two groups. A correlation analysis was performed for MPO level and liver-related laboratory markers, and the Spearman's correlation coefficient was calculated. Results The serum level of MPO in the PBC group was increased to 811.21 (450.67-1 216.20) ng/mL, which was significantly higher than that in the AIH group [468.58 (142.63-812.43) ng/mL] and the HC group [357.54 (203.52-811.21) ng/mL] ( P < 0.05), suggesting that there was a significant increase in the production of NET in peripheral blood of PBC patients. The PSC patients had a serum MPO level of 763.56 (489.59-1 633.14) ng/mL, which was significantly higher than that in the HC group ( P < 0.05). MPO level was positively correlated with alkaline phosphatase ( r =0.500, P < 0.05), gamma-glutamyl transpeptidase ( r =0.426, P < 0.05), alanine aminotransferase ( r =0.521, P < 0.05), and aspartate aminotransferase ( r =0.547, P < 0.01). Confocal immunofluorescence showed colocalization of H3Cit and MPO in the liver of PBC patients. In vitro experiment showed that compared with the HC group, the PBC group had an increase in NET produced by peripheral blood neutrophils after in vitro stimulation and an increase in spontaneous production of NET. Conclusion There is an increase in NET in peripheral blood and liver of PBC patients, and the content of peripheral blood NET is positively correlated with biochemical parameters of liver function. NET may become a novel biomarker for assessing the severity of PBC.

Clinical observation on uterine and breast development in girls with Turner syndrome with the estrogen hormone replacement therapy / 中国实用儿科杂志

OBJECTIVE: To research an appropriate estrogen therapy for in the pubertal development in Turner syndrome(TS)achievedbyestradiolvalerate.METHODS: In 57 TS girls of no spontaneous puberty or puberty arrest,we retrospectively studied pubertalstageanduterinedimensionduringtheestrogenreplacementtherapy.Datafrompatientrecordswascollected,described thepubertaldevelopingprocedure,and compared in groups which grouped by estrogen dosage to detect an appropriate dosage andthatcanleadabetterbreastanduterinedevelopment.RESULTS: The median age at start of puberty induction was 15.00 years,witharangeof11.5-21.0 years.(1)Breast development:Breast development to Tanner stage B2 was achieved in 0.29(0.25-0.33)years,stage B3 in 0.75(0.46,1.08)years,stage B4 in 2.20(0.92,3.08)years and B5 in 3.67(1.71,4.44)years.(2)Uterine development:The uterine volume and length in TS girls before treatment was 0.51(0.14,0.86)ml and 1.89(1.23,2.18)cm. We groupedthepatientsofTannerstageB2 ingroupsofestrogendosage≤0.5 mg/dand>0.5 mg/d and the uterine dimension and weightshowednodifference.Whenthepatientsweregroupedasgroupsofdosage<1.0 mg/d and group of dosage≥1.0 mg/d in stageB3,the uterine indexes in lower dosage group were less than group with larger dosage. When they were grouped as groups ofdosage<1.5 mg/d and ≥1.5 mg/d,the uterine volume 6.96(3.15-11.00)ml in lower dosage group was smaller than that in group withlargerdosage.CONCLUSION: During estrogen treatment in TS girls,normal breast development can be achieved. In a clinical setting,the uterine volume and length under pubertal induction developed properly with the breast stages progressing. when the breastdevelopedtostageB2,the uterine development was more dependable on estrogen. We recommend a low daily beginning estrogendosageuntilstageB2,which can be increased gradually after B2 to speed up the uterine development.

Clinical observation of isolated immunoglobulin G4-related sclerosing cholangitis and immunoglobulin G4 sclerosing cholangitis combined autoimmune pancreatitis / 中华肝脏病杂志

Objective@#To compare and analyze patient’s general condition, laboratory testing and therapeutic responses of isolated immunoglobulin G4- related sclerosing cholangitis (IgG4-SC) and immunoglobulin G4 sclerosing cholangitis combined autoimmune pancreatitis (IgG4-SC/AIP).@*Methods@#A retrospective study was conducted on IgG4-SC patients who attended outpatient and inpatients department of our hospital from April 2014 to March 2018 and their demographic characteristics, laboratory testing, and therapeutic responses were statistically analyzed. Normal distribution of continuous variables was compared with t-test, non-normal distribution of continuous variables was compared using the Mann-Whitney U test, and the categorical variables were compared with χ 2 test.@*Results@#29 IgG4-SC patients were included, including 19-isolated IgG4-SC and 10 IgG4-SC combined AIP (IgG4-SC/AIP). The average age of onset in the isolated IgG4-SC group was (46.06±19.03) years which was lower than IgG4-SC/AIP group (62.60±15.11), t = -2.360, P < 0.05. The median IgG4 in IgG4-SC/AIP patients is higher than that in isolated IgG4-SC, respectively 10.87 (3.73 ~ 20.13) and 3.14 (2.37 ~ 4.78)g/L(U = 159.000, P < 0.05). IgG4/IgG ratio is higher in IgG4-SC/AIP, than that in isolated IgG4-SC, respectively 0.62(0.23 ~ 0.86) and 0.16(0.10 ~ 0.21), U = 130.000, P < 0.05. Liver cirrhosis was more common in isolated IgG4-SC group (47%) than the IgG4-SC/AIP group (0), χ 2 = 9.637, P < 0.05. The median biochemical response time of isolated IgG4-SC group was 3.00 (2.00 to 4.00) months, which was longer than 1.00 (1.00 to 1.25) months of IgG4-SC/AIP group, U = 30.000, P < 0.05. The biochemical recurrence rate of isolated IgG4-SC group was 32%, which was lower than that of IgG4-SC/AIP (χ 2 = 6.461, P < 0.05).@*Conclusion@#Serum IgG4 level and IgG4/IgG ratio were higher in patients with IgG4-SC/AIP group, and therapeutic responses in isolated IgG4-SC patients were worse than that of IgG4-SC/AIP patients. The efficacy of glucocorticoid monotherapy and immunosuppressive agents combined with glucocorticoid therapy demonstrated no considerable difference in IgG4-SC patients.

Design and Application of Virtual Isolation Private Cloud Storage in Hospital / 医学信息学杂志

In order to improve the access and control of core data in medical information security,the paper builds a virtual isolation private cloud storage architecture in hospital,including virtualized reconstruction,metadata model application based on hierarchical model,access to remote clients design and application based on virtual isolation and so on,providing a reliable method for the isolation and intercommunication between the intranet and extranet.

The feasibility and practice of Nurse Practitioner in China / 中华护理杂志

With the development of China's economy and aging of the population,patient's demands for nursing are increasingly high,thus it is very important to cultivate high-end and practical nursing personnel.This paper analyzes the necessity and feasibility of the development of Nurse Practitioner in China,and explores the qualifications and management of Nurse Practitioner,the job content of Nurse Practitioner,and the training of Nurse Practitioner.

Application of nasogastric feeding tube placed by endoscopy to give enteral nutrient solution in the pediatric intensive diseases / 中华临床营养杂志

Objective To investigate the efficacy and safety of nasogastric feeding tube placed by endoscopy to give enteral nutrient solution in the pediatric intensive diseases.Methods A retrospective analysis of 30 children with serious illness who were given enteral nutrient solution through the nasogastric feeding tube placed by endoscopy from January 2013 to May 2016 in our hospital was conducted including 12 boys and 18 girls aging from 2 months to 14 years with the mean as (6.86±3.44) years old.Catheterization condition including catheter insertion time after hospitalization,catheter maintenance time,hospital stay and retention time after discharge,postoperative complications after catheterization,prognostic indications including anal exhaust and defecation time,blood urine amylase and returning to normal time,and changes of the indicators for nutrition including total protein,albumin,prealbumin,retinol binding protein were analyzed.Results Catheter insertion time after hospitalization was (16.13 ± 10.51) days,catheter maintenance time (21.35± 9.62) days,hospitalization time after catheterization (20.10±8.96) days and hospital stay (36.23± 14.20) days.10 cases (33.3％) maintained the catheter for (11.10±4.65) days after the discharge.The anal exhaust time was (2.84±3.32) days and the defecation time (4.55±3.35) days;The urinary amylase significantly deceased three days after catheterization compared with that of one day before catheterization (P =0.047);Serum total protein,albumin,prealbumin and retinol binding protein increased three days after catheterization compared with that of one day before catheterization,but the difference was not statistically significant (P＞0.05).5 children (17％) had complications including 3 children of abdominal distension and 2 children of vomiting.Conclusions Nasogastric feeding tube placed by endoscopy to give enteral nutrient solution in the pediatric intensive diseases can improve the intestinal and pancreatic function,recover their nutritional status to some extent and be controlled safely.However,the waiting time for catheterization and the hospital stay after catheterization are relatively long.The implementation of this technology and the awareness of its safety need be strengthened.

Effect of Letrozole on the Reproductive Function and Linear Growth in the Early and Mid Puberty Boys / 中山大学学报(医学科学版)

[Objective] To investigate the effect of letrozole on the reproductive function and linear growth in the early and mid pubertal boys.[Methods] 43 early and middle pubertal boy with seriously damaged predict adult height,treated with letrozole 1.5 mg/m2/d Po ((＞)2.5mg/d) were enrolled as treatment group.48 cases of healthy pubertal boys were enrolled as control.Growth parameters,sex hormone profiles,IGF-1,AMH and Inhibin B (INHB) were elevated at the beginning and after letrozole treatment.[Results] At baseline,no significant differences appeared in age,bone age,observation time,height for chronological age,height for bone age,midparental target height,BMI,or testis volume between two groups.After intervention,treatment group of bone age delayed,predict adult height increased,testicular volume increased and BMI increased compared with the control group (P=0.001,0.018,0.002,and 0.027,respectively).The serum FSH,△FSH,LH,△LH,LH/FSH,T,and △T in the treatment groups were much higher (all P＜0.001),while the serum E2 and △ E2 levels were obviously lower than the control group (P=0.043 and P=0.033,respectively).17 cases of control group and 13 cases of treatment group had serum AMH,INHB level tested before and after letrozole treatment.Serum AMH level in the control group appeared with a decreasing trend with the progress of puberty,while the treatment group showed the opposite tendency.And the △ AMH was significant difference between control group and treatment group (P＜0.001).The serum INHB in the two groups increased in varying degrees after the intervention,the INHB level in control group increased more than the treatment group,but the difference was not statistically significant (P=0.517).[Conclusion] Letrozole treatment can elevated levels of serum T with E2 reduce,bone age delay,predict adult height improved,and can obviously promote the secondary sex characters development in adolescent boys.And the longer letrozole treatment time,the more obvious growth effect.As to the reproductive function,letrozole may have inhibitory effect on testis maturity and cannot deny testis sertoli cells function affected with letrozole exposure.

Dyslipidemia and Its Related Factors in Chinese Children and Adolescents with Turner Syndrome / 中山大学学报(医学科学版)

[Objective] To analyze blood lipid and its related factors in Chinese children and adolescents with Turner syndrome.[Methods] The untreated TS patients were divided into two groups according to age (＜11 years old and 11～15 years old) and enrolled two groups of age-matched control girls,blood lipid and the incidence of dyslipidemia were compared between the four groups,the related factors of blood lipid were also analyzed.Moreover,TS patients were divided into two groups according to karyotype,including 45,XO karyotype (55 cases) and other karyotypes (53 cases),blood lipid and the incidence of dyslipidemia in two groups were compared.[Result] Compared to age-matched control girls,TS patients of age 11～15 years group had higher TG levels and higher incidence of hypertriglyceridemia and borderline-hypertriglyceridemia (P＜0.05) and the incidence of borderline-hypercholesterolemia was also significantly higher (P＜0.01).But there were no differences in blood lipid level,incidence of dyslipidemia and the incidence of borerline-dyslipidemia between TS patients who were less than 11 years old and age-matched control girls.Total cholesterol of TS patients was negatively related to bone age (P＜0.05).Triglyceride of TS patients was positively related to waist circumference (P＜0.01).TS patients of 45,XO karyotype had lower TG levels,higher HDL levels and lower incidence of low HDL,borderline-high non-HDL and borderline-hypertriglyceridemia compared with those of other karyotypes (P＜0.05).[Conclusions] Triglyceride in TS patients of age 11-15 years were higher than the control subjects,which may be related to estrogen deficiency and 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.

Impact of Informatization on Medical Staffs Behavior / 医学信息学杂志

The paper points out that informatization development of hospital has three stages,namely,the stage of hospital management informatization,the stage of clinical management informatization and the stage of regional health informatization.It expatiates on the impact of each stage on medical staffs' behavior,points out that informatization is able to increase medical staffs' work efficiency,regulate their diagnosis and treatment behavior and enhance diagnosis and treatment quality.

The expression and significance of CXCL13 in gastric mucosa of children with nodular gastritis / 临床儿科杂志

Objective To explore the expression and significance of CXCL13 in gastric mucosa of children with nodular gastritis. Methods A total of 216 pediatric patients with clinically diagnosed gastritis under gastroscopy were randomly divided into nodular group and non-nodular group according to whether there were nodular changes under endoscopy. The pathological characteristics of gastric mucosa and the expression of CXCL13/CXCR5 in gastric mucosa of all patients were evaluated. Results The infection rates of Helicobacter pylori(HP)in gastric mucosa in nodule group(n=102)and non-nodular group(n=114)were 70.59% and 42.11%, respectively; the rate of severe mononuclear cell infiltration were 74.51% and 22.81%, respectively; the proportion of neutrophil infiltration were 62.75% and 33.33%, respectively; lymph follicles occurred in 64.71% and 20.18%, respectively; and there were statistical differences between the two groups (P<0.001). Positive staining of CXCL13 and CXCR5 were found in the gastric mucosa of all HP infected patients. The percentages of positive cells of CXCL13 and CXCR5 in the gastric mucosa of the nodules group were (71.33±7.14)% and (73.54 ± 7.92)%, which were higher than those in the non-nodule group (45.88 ± 5.92)% and (50.42 ± 5.98)%, respectively, and there were statistical differences (P<0.001). Conclusions Nodular gastritis in children is mainly associated with Hp infection. The expression of CXCL13/CXCR5 is increased in gastric mucosa in children with Hp infection, especially in nodular gastritis, it may be involved in the formation of lymphoid tissue in gastric mucosa.

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.

Interleukin-17 Promotes Activation of Human Hepatic Stellate Cells and Collagen Expression / 胃肠病学

Background:Activation of hepatic stellate cells( HSCs)plays a pivotal role in development of liver fibrosis. Interleukin-17(IL-17)is the most important effector of T helper 17(Th17)cells that causes inflammatory cell infiltration and tissue damage. Preliminary studies showed that the number of IL-17-positive cells in liver tissue was positively correlated with the severity of liver fibrosis in patients with chronic hepatitis B and autoimmune hepatitis. However,the mechanism of IL-17 in liver fibrosis is not yet clarified. Aims:To investigate the effect of IL-17 on activation of human HSC cell line LX2 and collagen expression. Methods:Human HSC cell line LX2 was treated with different concentrations of IL-17. Viability of LX2 cells was measured by CCK-8 assay. mRNA expressions of α-smooth muscle actin(α-SMA), type Ⅰ collagen(Col-Ⅰ)and Col-Ⅲ were determined by real-time PCR. Protein expressions of α-SMA、Col-Ⅰ and Col-Ⅲ were detected by immunofluorescence. Results: Viability of LX2 cells increased with the increase of IL-17 concentration,but no significant differences were seen between any two groups(P > 0. 05). mRNA expressions of α-SMA, Col-Ⅰ and Col-Ⅲ in IL-17 treatment group(100 ng/ mL)were significantly higher than those in blank control group(P <0. 05). With the increase of IL-17 concentration,protein expressions of α-SMA,Col-Ⅰ and Col-Ⅲ gradually increased. Conclusions:IL-17 can promote the activation of HSCs and expressions of Col-Ⅰ and Col-Ⅲ,thereby contributing to the development of liver fibrosis.

Predictive value of abnormal ECG J wave for short-term prognosis in patients with acute ST-segment el- evation myocardial infarction / 心血管康复医学杂志

Objective:To explore the relationship between abnormal ECG J wave and in‐hospital prognosis in patients with acute ST -segment elevation myocardial infarction (ASTEMI) .Methods :ECG and related clinical data of 204 ASTEMI patients ,who received emergency percutaneous coronary intervention (PCI) in our hospital from Jan 2007 to Dec 2012 ,were retrospectively analyzed .According to the presence of abnormal J wave or not ,patients were di‐vided into abnormal J wave group (n= 82 ,occupied 40.2% ,82/204) and no abnormal J wave group (n= 122 , 59.8% ,122/204) .Single‐and multiple‐factor Logistic regression analysis were used to analyze risk factors of in -hospital death .Results:During hospitalization ,incidence rate of sustained ventricular tachycardia/fibrillation in pa‐tients with abnormal ECG J waves was significantly higher than those without abnormal J waves (9.8% vs .1.6% , P=0.008) , but among the 12 cases (5.9% ) of cardiac deaths ,only six cases had abnormal J waves .Logistic regres‐sion analysis indicated that abnormal ECG J wave cannot predict in‐hospital death of ASTEMI patients (OR=0.99 , 95% CI :0.34~ 2.90 , P= 0.987) ,while age can be regarded as an independent predictor factor for in‐hospital prognosis of these patients (OR = 1.08 ,95% CI :1.01 ~ 1.15 , P= 0.02) .Conclusion:For ASTEMI patients , though the incidence rate of sustained ventricular tachycardia/fibrillation in abnormal J wave group is significantly higher than those of without abnormal J waves group during hospitalization ,but abnormal ECG J waves cannot pre‐dict short-term prognosis of these patients .

Predictive value of abnormal ECG J waves for arrhythmias in patients with acute ST elevation myocar-dial infarction / 心血管康复医学杂志

Objective:To explore the predictive value of abnormal ECG J waves for arrhythmias occurred during short term in patients with acute ST elevation myocardial infarction (ASTEMI ) .Methods :ECG and echocardio‐graphic monitoring recordings of 204 ASTEMI patients who received emergency percutaneous coronary intervention (PCI) in our hospital from Jan 2007 to Dec 2012 were retrospectively analyzed .Univariate and multivariate Logistic regression analyses were performed to analyze the influencing factors of arrhythmias within one week after myocar‐dial infarction .Results:Abnormal J waves detected by ECG were found in 82 cases (40.2% ) among the 204 pa‐tients ,most of which were distributed on inferior leads of ECG .Multivariate Logistic regression analysis indicated that abnormal J waves (OR=14.05 , P=0.01 ,95% CI 1.70~116.40) ,J waves distributed across ≥ two locations (OR=13.38 ,P=0.01 ,95% CI 1.53~38.68) and J wave amplitude≥0.2 mV (OR=4.28 ,P=0.02 ,95% CI 1.82~16.72) were independent predictors for sustained ventricular tachycardia/fibrillation (VT/VF) ,but they cannot be used as predictors for occurrence of all ventricular arrhythmias ,including non‐sustained VT ,sustained VT and VF (P>0.05 all) ,nor the occurrence of atrial arrhythmias , P>0.05 all .Multivariate Logistic regression analysis indicated that diabetes mellitus was an independent predictor for occurrence of ≥30s atrial tachycardia/fibrillation in ASTEMI patients (OR=2.29 ,P=0.047 ,95% CI 1.01~5.18) .Conclusion:Abnormal ECG J wave is an inde‐pendent predictor for occurrence of sustained ventricular tachycardia/fibrillation during short term after ASTEMI .

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.

Effect of gonadotropin-releasing hormone analog combined with stanazolol on final height in girls with idiopathic central precocious puberty and apparent decrease of linear growth / 中华儿科杂志

<p><b>OBJECTIVE</b>To evaluate the effect of combined use of stanazolol (ST) on the final adult height (FAH) in girls with idiopathic central precocious puberty (ICPP) and apparently decreased linear growth during gonadotropin-releasing hormone analog (GnRHa) therapy.</p><p><b>METHOD</b>Sixty-three girls with ICPP and decreased velocity of growth of height (HV<4 cm/yr) during GnRHa therapy were divided into 3 groups based on the following types of interventions:group 1 (n = 20), GnRHa+ST [25-30 µg/(kg·d) every 3-month followed by 3-month discontinuation], group 2 (n = 21), GnRHa+recombinant human growth hormone [rhGH, 1-1.1 U/(kg·w)], group 3 (n = 22), GnRHa alone.HV, the advancement of bone age (BA) for chronological age (CA) (ΔBA/ΔCA) and FAH were compared among groups.</p><p><b>RESULT</b>(1)Total duration of ST combination therapy was (12.22 ± 3.62) months, while total duration of combination of rhGH was (13.22 ± 6.80) months. (2)HV increased significantly in both group 1 [ (2.79 ± 0.60) cm/yr vs. (6.27 ± 1.98) cm/yr, P < 0.01] and in group 2 [(2.80 ± 0.50) cm/yr vs. (6.25 ± 1.98) cm/yr, P < 0.01] during combined therapy, but maintained at low levels in group 3 [(3.95 ± 1.10) cm/yr vs. (3.34 ± 0.95) cm/yr, P > 0.05].No significant differences of ΔBA/ΔCA were found among the three groups [0.25(0.11∼0.28), 0.22(0.15∼0.31),0.19(0.10∼0.32), P > 0.05]. (3)FAH was significantly higher than predicted adult height (PAH) before combined therapy, as well as higher than target height (THt) in both group 1 [(156.25 ± 2.90) cm vs. (150.78 ± 3.70) cm, P < 0.01, (156.25 ± 2.90) cm vs. (153.94 ± 2.62) cm, P < 0.01], and in group2 [ (157.33 ± 4.69) cm vs. (152.61 ± 3.92) cm, P < 0.01, (157.33 ± 4.69) cm vs. (154.39 ± 4.72) cm, P = 0.01].In group 3, FAH was similar to PAH [(153.88 ± 2.6) cm vs. (152.54 ± 5.86) cm, P > 0.05], and was less than THt [(153.88 ± 2.6) cm vs. (155.60 ± 4.52) cm, P = 0.02]. (4)In girls treated with ST, no hirsutism, clitorism or hoarse voice was recorded.No polycystic ovary syndrome was found by B-mode ultrasound.</p><p><b>CONCLUSION</b>Intermittent combined use of low dose ST therapy can increase HV and thus improve FAH in girls with ICPP and apparently decreased linear growth during GnRHa therapy.</p>

Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutation in a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome (ATR-X).</p><p><b>METHODS</b>Based on clinical symptoms and inheritance pattern, linkage analysis of X chromosome short tandem repeats (X-STR) loci was carried out to locate the candidate gene. Subsequently, sequences of exons and exon-intron boundaries of the candidate gene were amplified with polymerase chain reaction (PCR). Potential mutations were detected by direct DNA sequencing. All patients were also analyzed for the trait of thalassemia.</p><p><b>RESULTS</b>Linkage analysis indicated the candidate gene to be ATRX. Subsequently, a homozygous missense mutation c.736C>T (p.R246C) was found in exon 9 of ATRX in all of the 3 patients. And a heterozygous mutation c.736C>T (p.R246C) was also identified in the patient's mother and grandmother. Similar mutations were not detected in other members of the family. Alpha thalassemia was detected in the proband and another patient, whose genotypes were determined as -α(3.7)/αα and --(sea)/αα, respectively.</p><p><b>CONCLUSION</b>Missense mutation of c.736C>T in ATRX gene is a mutation hotspot, and p.R246C may disturb the function of ATRX-DNMT3-DNMT3L domain (ADD), which may be responsible for the disease in this family.</p>

Rapid prenatal genetic diagnosis of a fetus with a high risk for Morquio A syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To provide rapid and accurate prenatal genetic diagnosis for a fetus with high risk of Morquio A syndrome.</p><p><b>METHODS</b>Based on ascertained etiology of the proband and genotypes of the parents, particular mutations of the GALNS gene were screened at 10th gestational week with amplification refractory mutation system (ARMS), denaturing high performance liquid chromatography (DHPLC), and direct DNA sequencing.</p><p><b>RESULTS</b>DHPLC screening has identified abnormal double peaks in the PCR products of exons 1 and 10, whilst only a single peak was detected in normal controls. Amplification of ARMS specific primers derived a specific product for the fetus's gene, whilst no similar product was detected in normal controls. Sequencing of PCR products confirmed that exons 1 and 10 of the GALNS gene from the fetus contained a heterozygous paternal c.106-111 del (p.L36-L37 del) deletion and a heterozygous maternal c.1097 T>C (p.L366P) missense mutation, which resulted in a compound heterozygote status.</p><p><b>CONCLUSION</b>The fetus was diagnosed with Morquio A syndrome and a genotype similar to the proband. Termination of the pregnancy was recommended. Combined ARMS, DHPLC and DNA sequencing are effective for rapid and accurate prenatal diagnosis for fetus with a high risk for Morquio A syndrome. Such methods are particularly suitable for early diagnosis when pathogenesis is clear. Furthermore, combined ARMS and DHPLC are suitable for rapid processing of large numbers of samples for the identification of new mutations.</p>