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Original Papers

  • Prophylactic probiotics for preventing necrotizing enterocolitis in preterm neonates: a systematic review and meta-analysis
  • GUO Ming, TANG Xiao-yu, YE Yuan, NIU Jia-lan, KOU Cheng-kun, MA Bin, ZHANG Xue-feng
  • 2016 Vol. 11 (6): 401-409.
  • Abstract ( 518 ) PDF (57387KB)( 1165 )
  • Objective To systematically evaluate the efficacy and safety of prophylactic probiotic supplementation for preventing necrotizing enterocolitis (NEC) in preterm neonates. Methods Databases including PubMed, Ovid-EMbase, The Cochrane Library, CNKI, WanFang Data and VIP were searched to collect RCTs about probiotics for preventing necrotizing enterocolitis in preterm neonates up to March 2016. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies. Meta-analysis was conducted by RevMan 5.3 software. Results A total of 33 RCTs, involving 8 248 patients were included. The results of meta-analysis showed that, for low birth weight infants (LBWI), probiotics could significantly reduce the incidence of NEC (stage Ⅱ or more), the incidence of severe NEC (stage Ⅲ), time to full enteral feeds [the incidence of NEC:OR=0.26(95%CI:0.10 to 0.66),P=0.004;the incidence of severe NEC:OR=0.29(95%CI:0.11 to 0.78),P=0.01;time to full enteral feeds:WMD=-3.57(95%CI:-5.79 to -1.34),P=0.002], but did not decrease overall mortality and the risk for sepsis [overall mortality:OR=0.80(95%CI:0.50 to 1.28),P=0.35;the risk for sepsis:OR=0.50(95%CI:0.13 to 1.99),P=0.33]; for very low birth weight infants (VLBWI), probiotic supplement was associated with a significantly decreased incidence of NEC and severe NEC, overall mortality, NEC related mortality, the risk for sepsis [the incidence of NEC:OR=0.34(95%CI:0.26 to 0.44),P<0.000 01;the incidence of severe NEC:OR=0.39(95%CI:0.20 to 0.76),P=0.006;overall mortality:OR=0.55(95%CI:0.44 to 0.69),P<0.000 01;NEC related mortality:OR=0.38(95%CI:0.21 to 0.69),P=0.001;the risk for sepsis:OR=0.77(95%CI:0.62 to 0.95),P=0.02]. There was no evidence of significant reduction of time to full enteral feeds [WMD=-1.28(95%CI:-2.62 to 0.06),P=0.06]; for extreme low birth weight infants (ELBWI), probiotics administration didn't decrease the incidence of NEC and severe NEC, overall mortality, NEC related mortality, the risk for sepsis [the incidence of NEC:OR=0.67(95%CI:0.25 to 1.79),P=0.43;the incidence of severe NEC:OR=1.02(95%CI:0.14 to 7.54),P=0.98;overall mortality:OR=0.96(95%CI:0.34 to1.43),P=0.32;NEC related mortality:OR=0.73(95%CI:0.12 to 4.48),P=0.74;the risk for sepsis:OR=0.50(95%CI:0.20 to 1.23),P=0.13], but could significantly shorten time to full enteral feeds [WMD=-1.70(95%CI:-2.85 to -0.55),P=0.004]. Conclusion Probiotic supplement could reduce risk of NEC and time to full enteral feeds in LBWI and VLBW, and showed a decreasing trend of mortality and the risk for sepsis. The above conclusions need more high quality studies to be verified.

  • Changes and significances of histone 3 acetylation of IFN-γ gene during acute phase of Kawasaki disease
  • MEI Jie-hua, CUI Dong, WANG Qin, WEN Peng-qiang, XU Ming-guo, TANG Gen, LIU Cong, LI Cheng-rong, WANG Guo-bing1
  • 2016 Vol. 11 (6): 410-415.
  • Abstract ( 454 ) PDF (11034KB)( 883 )
  • Objective To investigate the changes and significances of histone 3 acetylation of IFN-γ gene in patients with acute Kawasaki disease(KD). Methods Children with KD were enrolled in Shenzhen Children's Hospital from February 2015 to June 2016, and sub-grouped as with or without coronary artery lesions (CAL). Age-matched healthy children attending routine physical examination were recruited as controls during the same period. Chromatin immunoprecipitation was performed to determine acetylation level of histone 3 of IFN-γ gene, and binding level of histone acetyltransferase p300 and deacetylase HDAC1/2 with IFN-γ gene. The proportion of CD4+IFN-γ+ cells (Th1) and protein levels of IFN-γ, pSTAT4, pSTAT5 and T-bet were analyzed by flow cytometry. Quantitative real-time PCR was used to evaluate the levels of IFN-γ, IL-2Rα/β, IL-12Rβ1/2, IL-18Rα/β and ITLR4 mRNA in CD4+ T cells. Plasma concentrations of IL-12, IL-2 and IL-18 were measured by enzyme-linked immunosorbent assay. Results ① Thirty-eight children with KD, including 16 children with CAL (KD-CAL+) and 22 children without CAL(KD-CAL-), aged from 1 to 5.2 years with a mean of 2.9 years were recruited. The KD group consisted 20 males and 18 females, and 32 age-matched healthy children with 17 males were recruited as controls. No difference of age or sex was found between the two groups(P>0.05). ② The proportion of Th1, levels of IFN-γ protein and mRNA, and acetylation levels of histone 3 of IFN-γ gene increased remarkably during acute KD(P<0.05), and restored after IVIG therapy(P<0.05). Meanwhile, all the four items aforementioned in KD-CAL+ subgroup were higher than those in KD-CAL- subgroup (P<0.05). ③ During acute KD, binding level of p300 with IFN-γ gene was up-regulated significantly whereas binding level of HDAC1/2 with IFN-γ gene was down-regulated(P<0.05), resulting in the higher ratio of p300/HDAC1/2 that was positive correlated with the acetylation level of IFN-γ gene in patients in acute KD(r=0.52, P<0.05). Moreover, binding level of p300 with IFN-γ gene and the ratio of p300/HDAC1/2 in KD-CAL+ subgroup were higher than those in KD-CAL- subgroup (P<0.05), while a lower binding level of HDAC1/2 with IFN-γ gene was found in KD-CAL+ subgroup (P<0.05). All the three items mentioned above restored remarkably after IVIG treatment(P<0.05). ④ In comparison with healthy controls, plasma concentration of inflammatory cytokines (IL-2, IL-12 and IL-18), levels of their receptors(IL-2Rα/β, IL-12Rβ1/2, IL-18Rα/β and TLR4) and downstream molecules (pSTAT5, pSTAT4, T-bet and MyD88) were elevated pronouncedly during acute KD(P<0.05), and restored to some extent after IVIG treatment (P<0.05). Simultaneously, all the items mentioned before in KD-CAL+ subgroup were higher than those in KD-CAL- subgroup (P<0.05). Conclusion Hyper-acetylation of histone of IFN-γ gene might be one of the important factors contributing to immune dysfunction of KD.

  • Development and assessment of reliability and validity of Chinese version of sexual self-protective awareness scale for adolescent female
  • ZHANG Yue-zhen,LUO Jun-hong
  • 2016 Vol. 11 (6): 416-419.
  • Abstract ( 651 ) PDF (6410KB)( 1596 )
  • Objective To develop a self-protection awareness scale of adolescent female scale (SSPAS) that based upon Chinese cultural framework and test the reliability and validity of the scale. Methods Taking the 16-18 year-old Chinese adolescents as the target population of this study, the SSPAS initial scale was compiled through literature analysis and semi-structured interview. The SSPAS pre-test scale was formed by expert consultation. 283 adolescents aged from 16 to 18 years old in a medical college in Quanzhou, Fujian Province were selected as the pre-experimental scale. The pre-test scale was analyzed by item analysis, and the formal scale was induced by exploratory factor analysis. The scale adopted a 5 point likert type scale that a higher score indicates a higher self-protective awareness. The reliability and validity of the formal scale were evaluated by reliability analysis, correlation analysis and confirmatory factor analysis. Results The SSPAS pre-test scale was based on 321 Chinese teenage students aged 16-18 years. The valid questionnaires were 88.2%. The Chinese version of SSPAS was based on 560 Chinese teenage students aged 16-18 years. The effective questionnaires were 91.2%. Using exploratory factor analysis, the SSPAS consisted of 22 items, including sexual health attitudes, sexual self-concept, sexual risk behavior and other three common factors, the cumulative contribution rate was 72.5%; the content of the validity index was 0.902 ~ 0.922 , and the total content validity index of the scale was 0.918. The Cronbach's alpha coefficient of the total scale was 0.842 and the test-retest reliability was 0.886. The confirmatory factor analysis was with a good fit (x2 / df = 2.218, P<0.001, GFI = 0.958, RMSEA = 0.052, AGFI = 0962, NFI = 0.924, CFI = 0.936). Conclusion As the reliability and validity of 16 to 18 year adolescent female self-protection awareness scale are good, the Chinese version of the SSPAS is a reliable tool to assess self-protection awareness of adolescent female.

  • The value of methylprednisolone used in children undergoing cardiac surgery with cardiopulmonary bypass: a systematic review and meta-analysis
  • 2016 Vol. 11 (6): 420-425.
  • Abstract ( 496 ) PDF (20847KB)( 1006 )
  • Objective To evaluate the effects of perioperative administration of methylprednisolone in pediatric patients undergoing cardiac surgery together with cardiopulmonary bypass. Methods Randomized controlled trials published in English language involving pediatric patients aged under 16 years undergoing cardiac surgery together with cardiopulmonary bypass, which prophylactic perioperative methylprednisolone administrated during cardiac surgery was compared with placebo or blank control were included.The PubMed, Embase, Medline,and the Cochrane Library were searched systematically up to May 2016. The search strategy was "methylprednisolone" AND "cardiopulmonary bypass" OR "CPB". The primary outcome to evaluate the efficacy of methylprednisolone in pediatric cardiac surgery with cardiopulmonary bypass was all-cause in-hospital mortality. The meta-analysis was performed by RevMan 5.3 software. A subgroup analysis about delivery method was made between intravenous administration before surgery (subgroup A) and CPB circuit in CPB prime(subgroup B). Results Six RCTs with 486 patients were included into this meta-analysis, including 253 patients with methylprednisolone and 233 patients with placebo or blank control. Five RCTs reported the information of random sequence generation, 2 RCTs reported adequate information about allocation concealment. All of the included RCTs reported blinding of outcome assessment and described off or lost, 5 RCTs didn't report selective results, other bias were uncertain. Compared with placebo patients, methylprednisolone administration was associated with significant reduction of postoperative mortality (RR=0.22, 95% CI: 0.06 to 0.83, P = 0.03). The results of meta-analysis showed that the CPB time was decreased in experimental groups (MD=-10.67,95% CI:-17.82 to -3.53,P=0.003),and similar trend was found in subgroup A,the MD(95%CI) was -0.72 (95%CI: -1.33 to -0.12, P=0.02).There was no relation with decreased cross-clamp time, mechanical ventilation time and length of ICU stay in subgroup B. Conclusion Under the limited evidence, the delivery method of intravenous administration before surgery may be better than CPB circuit in CPB prime to decrease ICU stay and CPB time.

  • Efficacy and safety of clonidine adhesive patch in the treatment of childhood tic disorders: a systematic review and meta-analysis
  • KE Zhong-ling, CHEN Yan-hui, NIAN Yu-xia, LIN Gui-xiu
  • 2016 Vol. 11 (6): 426-430.
  • Abstract ( 875 ) PDF (9236KB)( 1546 )
  • Objective To evaluate the efficacy and safety of clonidine adhesive patch in the treatment of childhood tic disorders. Methods VIP, Wanfang, CNKI, CBM, EMCC, PubMed, OVID databases and Cochrance library were searched, in order to collect RCT and non randomized studies which took clonidine adhesive patch therapy, and the retrieval time was from the time that the database was set up to August 30, 2016. Two reviewers independently screened the literature, extracted the data and evaluated the risk of bias in the literature. Meta-analysis was conducted by Revman 5.3 software. Results Finally, 6 articles were included in this study, 5 was RCT, and 1 didn't describe whether they used random method or not. A total of 1 043 children with TD were enrolled, including 632 patients in case group and 411 patients in control group. In control group 3 articles were haloperidol, 2 articles were tiapride , and the other 2 articles took placebo as control. In 3 articles comparing clonidine adhesive patch with haloperidol in the treatment of TD, the heterogeneity was small, with the fixed effect model, the results showed that the two groups had statistically significant YGTSS reduction rate (P<0.001), MD=21.82 (95%CI:20.97 to 22.88), which suggested that the clonidine adhesive patch was more effective than haloperidol.② In 2 articles comparing clonidine adhesive patch with sulfur in the treatment of TD, the heterogeneity between studies was large, so a random effects model was used for meta-analysis, the results showed that the difference of YGTSS reduction rate in two groups was not statistically significant (P=0.43), MD=10.66 (95%CI:-15.67 to 36.99), which suggested that the efficacy of clonidine adhesive patch and tiapride was equivalent . ③ In 2 articles comparing clonidine adhesive patch with placebo in the treatment of TD, in both articles it was found that clonidine adhesive patch could effectively reduce YGTSS scores, but the two articles evaluated in different ways, so it was unable to conduct meta-analysis.④All 6 articles had reported the occurrence of adverse reaction, the adverse reactions of clonidine adhesive patch mainly included local skin itching and redness (17 cases), dry mouth (10 cases), dizziness (8 cases), blood pressure drop (4 cases); no serious adverse reactions of cardiac arrhythmia, dysfunction of liver and kidney were reported. In 3 articles comparing the adverse reaction of clonidine adhesive patch with haloperidol [3.7%(8/218) vs 17.8% (37/208)], the difference was statistically significant (P<0.001),and in 2 articles comparing the adverse reaction of clonidine adhesive patch with tiapride [15.8% (16/101) vs 31% (35/113)], the difference was also statistically significant (P=0.009),and in 2 articles comparing the adverse reaction of clonidine adhesive patch with placebo [6.2% (24/384) vs 9.3% (12/129)], but there was no statistically significant difference (P=0.24). Conclusion Clonidine adhesive patch can significantly control the symptoms of TD just like traditional drugs or even better,and with less side effects and can be used conveniently.

  • A study on adverse effects of ganciclovir in 111 infants with cytomegalovirus infection
  • HAO Shi-li, XU Hong-mei
  • 2016 Vol. 11 (6): 431-435.
  • Abstract ( 681 ) PDF (1902KB)( 1444 )
  • Objective To evaluate the safety of ganciclovir (GCV) in infants with CMV infection. Methods One hundred and eleven infants were collected who were diagnosed as symptomatic CMV infection that had indications to use GCV, and they were treated for 3 courses of GCV in Children's Hospital of Chongqing Medical University from Jan. 2011 to Feb. 2014. Clinic data of adverse effects were collected and analyzed retrospectively. Results Among 111 cases, 70 were boys and 41 were girls. The mean age was 2 m and 29 d (14 d to10 m and 27 d). There were 60 cases with CMV hepatitis, 38 with CMV hepatitis and hearing impairment, 10 with hearing impairment caused by CMV, 2 with CMV encephalitis, 1 was with interstitial pneumonia and hearing impairment caused by CMV. All of them got better after treated with GCV for 3 courses. Before the treatment with GCV, the data of blood routine examination missed in 1 case, liver function examination missed in 2 cases, DB missed in 4 cases and renal function examination missed in 14 cases. The examination of blood routine , liver function and renal function after the GCV treatment of above cases were normal except 2 cases (ALT was 270 U·L-1 in 1 child, DB was 35.3 μmol·L-1 in 1 child). In 2 cases with thrombocytopenia and in 5 cases with renal impairment before using GCV, PLT or renal function was normal after GCV medication. There were 21 cases with granulocytopenia during the GCV treatment. And ANC number was normal one week follow-up later in 15/21 cases after granulocytopenia occurred and other 6/21 cases with granulocytopenia occurred at the end of the third course were not followed-up because patients missed. There were 15 cases with anemia. HB were increased in 13/15 cases and decreased in 1/15 case 1 week later. Anemia in 1/15 case occurred at the end of the third course was not followed-up because patient missed. Liver damage caused by GCV was found in 27 cases. The level of ALT and AST in 24/27 cases decreased after the GCV treatment. The other 3/27 cases with anemia occurred in the third course were not followed-up because patients missed. Transient increase of ALT, AST and/or DB that did not get the criterion of liver damage were found in 54/109(49.6%), 41/109(37.6%)and 20/107 (18.7%) respectively. Rash was found in 18 cases. WBC reducing, thrombocytopenia and renal damage were not found. And describes about adverse effects of nervous system and gastrointestinal tract were not recorded. Incidence of granulocytopenia in cases whose ANC≤2.00×109·L-1 was higher than those whose ANC>2.00×109·L-1(11/30 vs 10/80, χ2=10.17,P=0.001,R=0.291). Incidence of anemia in cases whose Hb≤100 g·L-1was higher than those whose Hb>100 g·L-1(11/52 vs 4/58, χ2=4.73,P=0.030,R=0.207). Conclusion GCV can cause bone marrow suppression, liver function damage and rash in infants with CMV infection. The adverse effects often occur in the induction period of GCV treatment, and are usually mild and reversible.

  • The validity of the Chinese version of ASQ in high risk children
  • LIU Shi-qi, WU Yuan, BIAN Yang, LI Ming
  • 2016 Vol. 11 (6): 436-440.
  • Abstract ( 932 ) PDF (1881KB)( 1502 )
  • Objective ASQ-C is a newly introduced and standardized questionnaire for children's development in China. The validity of ASQ-C was not fully tested .In this study, the Gesell developmental scale was used as a diagnostic scale to test the validity of the ASQ-C in high risk children. Methods The 130 samples were selected in the outpatient of children development, who were evaluated by both ASQ-C and Gesell development scale. Cutoff points for all ASQ-3 age-versions were calculated in two ways and the samples were divided into 2 groups according to the age. The sensitivity, specificity, positive and negative predictive values were calculated. The subscales of ASQ-C were analyzed according to the corresponding scales of Gesell development scale. Results In generally, the coincidence rate was 0.73, sensitivity and specificity were 72.5% (95%CI:63% to 82%)and 74.3%(95%CI:61% to 88%),the PPV and NPV were 86.8%(95%CI:79% to 94%)and 53.7%(95%CI:40% to 67%).Using 1 s as the cutoff, the sensitivity and specificity were 92.5% and 32.4%, the PPV and NPV were 77.5%(95%CI:70% to 85%)and 63.2%(95%CI:41% to 85%).Sensitivity and specificity values were higher for the older age-cohort than for the younger age-cohort. The sensitivity and specificity of the subscale were 46.6% to 85% and 64.3% to 93.7%. Conclusion The ASQ-C was a developmental screening scale, its validity was within acceptable range, but failed to reach the ideal screening scale level. For less than 18 months of high-risk children, using 1s as the cutoff may significantly improve the sensitivity and reduce missed diagnosis.

  • Diagnostic value and association of procalcitonin with urinary tract infections and vesicoureteral reflux in children
  • KANG Yan, ZHANG Lin
  • 2016 Vol. 11 (6): 441-444.
  • Abstract ( 640 ) PDF (4504KB)( 1384 )
  • Objective To explore the diagnositc value and association with procalcitonin(PCT) in children with urinary tract infection and vesicoureteral reflux(VUR). Methods From Jan 1st 2012 to Dec 31st. 2015, children admitted with the first urinary tract infection from in-patient of one hospital were recruited in the study, all the patients performed the detection of PCT, CRP, VCUG and urine bacterial culture. Children with hospital acquired urinary tract infection, or experienced with urinary tract operation were excluded. All patients were divided into non-VUR group and VUR group(including mild VUR subgroup and severe VUR subgroup), as well as sequential grades according the results of VCUG(gold standard). Data of PCT, CRP(detected within 24 h of admission), urine bacterial culture, ultrasonography of the urinary system, voiding cystourethrography(VCUG)were collected for analyzing. Diagnositic performances of PCT and CRP in VUR were compared. Results Among 156 children included, 58 had VUR (including 38 cases of mild VUR and 20 cases of severe VUR),98 had no VUR, there was no difference in age and sex between VUR and non-VUR groups(Z=-1.667, P=0.096;χ2=0.291,P=0.590). Levels of PCT (ng·mL-1) and CRP (mg·L-1) in the VUR group[1.01(0.78,1.28)vs 0.40(0.10,0.60);14.2(8.9,31.1)vs 11.0(6.6,19.5)] were significantly higher than the non-VUR group(Z=-7.863, P=0.000;Z=-2.327, P=0.02). There were statisitical differences in PCT level among groups of non-VUR, mild VUR subgroup[0.99(0.68,1.16)], and severe VUR subgroup[1.57(0.93,1.96)]. There were statisitical differences in CRP level between groups of non-VUR and severe VUR subgroup[28.9(12.7,45.2)]. There were statisitical differences in PCT and CRP level between mild VUR subgroup and severe VUR subgroup. But there was no statisitical difference in CRP level between non-VUR and mild VUR subgroups[12.6(8.5,19.5)]. The best cutoff of PCT to discriminate VUR and non-VUR was 0.77 ng·mL-1, with the sensitivity of 77.6%, specificity of 90.8%, AUC ROC of 0.877(0.811~0.943). After adjusting for sex, CRP and other confounding factors, the risk of children with PCT≥0.77 ng·mL-1 was 3.604 times higher than children with PCT<0.77 ng·mL-1. Conclusion Procalcitonin may play a role in determining the presence of vesicoureteral reflux in children with urinary tract infections, and may be independently used to predict the VUR.

  • Genetic counseling and prenatal diagnosis for primary ciliary dyskinesia in a case caused by CCDC39 gene mutations
  • QI Yuan-yuan,HONG Da,WANG Hui-jun,ZHANG Xiao-bo,WANG Li-bo,JIN Ting-ting,QIAN Li-ling
  • 2016 Vol. 11 (6): 445-449.
  • Abstract ( 725 ) PDF (10034KB)( 1039 )
  • Objective To identify the genetic defect in a child with primary ciliary dyskinesia and provide genetic counseling and prenatal diagnosis for the family. Methods Whole exome sequencing (WES) was performed in a case with a clinical diagnosis of Kartagener syndrome as well as her asymptomatic parents. The data analysis pipeline of Children's Hospital of Fudan University was used to identify pathogenic mutations. Amniocentesis was conducted for the mother in her second pregnancy after a thorough genetic counseling. Genomic DNA was extracted from exfoliated amniotic fluid cells and Sanger sequencing was performed after PCR amplification. Results During follow-ups, the lung function of the patient deteriorated markedly and bronchiectasis shown in chest CT was aggravated. A heterozygous nonsense mutation (c.1819A>A/T, p.K607X) and a frameshift mutation (c.2447_2448het_delCA, p.T816Kfs*3) in CCDC39 gene were detected in this patient by WES. Both mutations were novel and predicted to be disease-causing. Mutational analysis of the parents demonstrated they were compound heterozygous mutations. These compound heterozygous mutations were consistent with ciliary structural abnormity revealed by electron microscope thus suggesting the pathogenic nature of these mutations. Sequencing of the amniotic fluid cells showed that the fetus only carried one heterozygous mutation which was inherited from the mother. Conclusion The compound heterozygous mutations in CCDC39 gene detected by WES was the genetic cause of primary ciliary dyskinesia. Genetic counseling and prenatal diagnosis may be helpful to the family based on the basis of this genetic diagnosis.

  • The value and limitation of mucosal immunofluorescence of duodenal descending to assist diagnosis of Henoch-Schnlein purpura
  • SONG Ying, SHI Jie- ru, TANG Zi- fei, FENG Jia-yan, CHEN Lian, HUANG Ying
  • 2016 Vol. 11 (6): 450-454.
  • Abstract ( 609 ) PDF (7346KB)( 1108 )
  • Objective To study the value of immunofluorescence test and the severity of mucosal lesions of the duodenum descending portion in the diagnosis of Henoch-Schnlein purpura. Methods To collect the situation of purpura from the medical history and the degree of mucosal lesions and the immunofluorescence results of duodenum under endoscopic examination. The hyperemia and edema of mucosal were defined as mild lesions, the erosion and ulcer were defined as moderate to severe lesions observed under the endoscopy. The typical skin purpura appeared before the examination of gastroscopy was named as early onset purpura, and after that was named as later onset purpura. According to the results of immunofluorescence test was divided into negative and positive. Results The newly diagnosed Henoch- Schnlein purpura or suspected Henoch- Schnlein purpura patients with the main symptom of abdominal pain were collected who were treated in Department of Gastroenterology of Children's Hospital of Fudan University from April 2014 to December 2015. Fifity- four cases who finished the gastroscopic examination and immunofluorescence test of duodenum portion mucosal were enrolled in the study. Thirty- one cases were males and 23 cases were females; the average age was 8.1±2.7 years; 14 cases were outpatient patients, 40 cases were hospitalized patients; 36 patients (76.7%) were with early onset purpura, 18 cases were with later onset purpura. Duodenal mucosal lesions manifested as congestion and edema in 14 cases, manifested as erosion and ulcers in 40 cases (including erosion in 19 cases and ulcers in 21 cases). Thirty- one cases (57.4%) were immunofluorescence positive of duodenal mucosa and negative in 23 cases. The frequency of moderate to severe mucosal lesions was significantly higher in patients with duodenal mucosal immunofluorescence-negative Henoch- Schnlein purpura than that in positive ones (91.3% vs 61.3%, P=0.013). The frequency of mild mucosal lesions in patients with immunofluorescence positive of duodenal mucosa was higher than that with negative on the basis of all the patients with early onset purpura, the difference was statistically significant (χ2=4.241, P=0.039). There was no significant difference of the degree of mucosal lesions of duodenal portion between early or later onset purpura regardless of the result of immunofluorescence positive or negative of duodenal descending portion mucosal. There was no significant difference in the proportion of mucosal mild lesions with later onset purpura between immunofluorescence positive and negative of duodenal descending portion mucosal. There was no statistically significant difference in the proportion of moderate to severe lesions between patients with early onset purpura and patients with later onset purpura regardless of the result of immunofluorescence positive or negative of duodenal descending portion mucosal. Conclusion Clinical diagnosis of Henoch- Schnlein purpura with negative results of mucosal immunofluorescence should be cautious. It may be mainly associated with the severity of the lesion and can't rule out the biopsy factors, such as location, quantity, depth and equipment.

  • Portal hypertension caused by PKHD1 mutations in children: 4 cases report
  • YAN Yan-yan, GONG Jing-yu, SHI Ying-yan, LU Yi, ZHANG Mei-hong, XIE Xin-bao, WANG Jian-she, LIN Jin
  • 2016 Vol. 11 (6): 455-459.
  • Abstract ( 902 ) PDF (9060KB)( 1368 )
  • Objective Using the next generation sequencing to explore the etiology of Chinese children with portal hypertension, which was hard to be diagnosed by routine examinations. Methods The whole exome sequencing and hepatic panel were used to explore the cause of four children with portal hypertension hospitalized in Jinshan Hospital of Fudan University from 2012 to March 2016. The clinical features were summarized retrospectively. Results The patients consisted of one male and three females, and their ages of onset ranged from 3.3 to 6.4 years with average age of 4.65 years. The main clinical features included upper gastrointestinal hemorrhage in three patients, splenomegaly in four patients, hepatomegaly in two patients, intra-hepatic bile duct dilation in one patient, elevation of serum alanine aminotransferase in two patients. Kidney lesions were detected by imaging in all patients, whereas both hepatic synthetic function and kidney function were tested to be normal. Finally, diverse compound heterozygous mutations were identified in PKHD1 gene in all patients by the next generation sequencing and confirmed by Sanger sequencing. The identified PKHD1 gene mutations included one nonsense mutation, one typical splicing site mutation, three deletion mutation induced frameshift mutations, and three rare missense mutations. c.8108-1G>A and c.4481delA p.N1494fs were identified in case 1, c.9568C>T p.Q3190X and c.2507T>C p.V836A were identified in case 2, c.9455delA p.N3152fs and c.847T>C p.F283L were identified in case 3, c.10315G>T p.D3439Y and c.3028-c.3039delGGAGAAGACCTCinsAGGT p.G1010fs were identified in case 4. All four children were diagnosed with autosomal recessive polycystic kidney disease. Conclusion Autosomal recessive polycystic kidney disease is an important cause of noncirrhotic portal hypertension in children, and the next generation sequencing is an effective method for diagnosis.

  • A case-control study of serum levels of cytokines in Crohn's disease and healthy children
  • LU Hua-jun, ZHAO Zhong-yan, Li Xiao-li, YAN Xiu-mei, LIN Xiao-chun, Huang Kai-yu
  • 2016 Vol. 11 (6): 460-462.
  • Abstract ( 512 ) PDF (4137KB)( 1222 )
  • Objective To detect the serum levels of cytokines in children with Crohn's disease (CD), in order to explore the role of cytokine levels disorder on the pathogenesis of CD in children. Methods Hospitalized CD patients diagnosed between January 2013 and December 2015 in Yuying Children's Hospital of Wenzhou Medical University (Case group was divided into different subgroups according to CD activity),and outpatient healthy children at the same period were enrolled as case group and control group, respectively. The levels of serum IL-2, IL-4, IL-6, IL-10, TNF-α, IFN-γ, and IL-17A were detected by flow cytometry in the morning with an empty stomach. Results There were 32 cases of children with CD in case group, including 18 males, 14 females, with average age of (8.5±4.3) years; 12 cases in mild activity CD subgroup, 20 cases in moderate and severe activities CD subgroup.There were 30 healthy children in control group, including 18 males and 12 females , with average age of (10±3.5) years. There was no statistically significant difference in age and gender between case group and control group(P>005).The levels of serum IL-2, IL-4, IL-6, TNF-α, and IL-17A in case group were significantly higher than those in the control group (P<0.05). And the levels of serum IL-10 and IFN-γ in case group were significantly lower than those in the control group (P<0.05). In addition,the levels of serum TNF-α, IL-2 and IL-17A in moderate and severe activities CD subgroup identified by the pediatric CD activity index (PCDAI) were significantly higher than those in mild activity CD subgroup (P<0.05). Conclusion Compared with healthy children, CD children existed obvious immune related cytokines level change.With the change of CD activity, the levels of cytokines were also different. It suggested that cytokine levels disorder played an important role in the development of CD in children.