OBJECTIVETo detect gene mutations associated with autosomal dominant congenital stationary night blindness(ADCSNB) in a large Chinese family.

METHODSGenomic DNAs were extracted from peripheral blood samples of 16 affected and 14 unaffected family members. According to 5 missense mutations in 3 genes reported previously, 4 pairs of primers were designed and corresponding exons containing the five mutation sites were amplified by polymerase chain reaction. Amplified products were purified and sequenced by MegaBACE1000 capillary array electrophoresis DNA sequencer. Full field electroretinogram (ERG, ISCEV) of patients was recorded and analyzed by Roland Consult System.

RESULTSDark-adapted ERG showed a-wave was normal, but b-wave of the patients was markedly decreased. None of the five missense mutations were detected in 16 affected and 14 unaffected family members.

CONCLUSIONThe molecular pathogenesis of ADCSNB in this family does not involve point mutations or deletions of these five sites, which indicates the heterogeneity of ADCSNB.

Adult ; Base Sequence ; DNA Mutational Analysis ; Female ; Humans ; Male ; Molecular Sequence Data ; Night Blindness ; congenital ; genetics ; Pedigree ; Point Mutation

[Objective]To discuss the CT diagnosis and differential diagnosis of solid pseudopapillary tumor of the pancreas (SPTP).[Methods]The CT findings of 20 patients with SPTP proved by surgically pathology were retrospectively analyzed and summa?rized.[Results]SPTP were composed of solid and cystic components with surrounding capsule resulting to clear demarcation between tumor and normal pancreas without dilation of pancreatic duct. The tumor parenchyma was slightly hyperenhancement on arterial phase and showed gradual enhancement on venous and delayed phase.[Conclusions]The CT findings of SPTP have relative specifici?ty and can contribute to early diagnosis and differential diagnosis of SPTP.

BACKGROUNDLive attenuated hepatitis A vaccine (H2 strain) is widely applied in prevention of hepatitis A epidemic in China and other countries now. It is essential to observe and confirm the vaccine immune efficacy, population antibody level and its persistent efficacy after mass immunization.

METHODSA total of 220 children with negative anti-HAV antibody (aged 1 - 3 years) were taken for follow-up assay to observe seroconversion and geometric mean titre (GMT) level 2 months, 12 months, 6 years, and 10 years after inoculation. Another survey sampled from subjects of different age groups (3, 6, 9, 15, 18, 25 and 35 years) to compare anti-HA antibody positive rate before and after inoculation performed 10 years previously. Epidemiological observations were taken for 10 years to evaluate the relationship between vaccine coverage and hepatitis A morbidity. Serum antibody to HAV was detected by enzyme linked immunoassay (ELISA, calibrated by WHO international reference) and ABBOTT Axsym HAVAB microparticle enzyme immunoassay.

RESULTSSeroconversion in follow-up assay 2 months and 10 years after inoculation was 98.6% and 80.2% respectively. For children, the vaccination anti-HA antibody positive rates were significantly different before and after 10 years, 7.69% cf 70.45% (aged 3 years) and 52.58% cf 71.78% (aged 18 years). When vaccine coverage rose from 57% to 74%, there were no any HA epidemics. When vaccine coverage reached 85%, there were no any HA cases. With vaccine coverage between 85% and 91%, there were no any HA cases in cohorts from the age of 1 year to 15 years during the 10 years.

CONCLUSIONSLive attenuated hepatitis A vaccine has an obvious long-term effectiveness in prevention and control of HA epidemics through mass vaccination.

Adolescent ; Adult ; Child ; Child, Preschool ; Enzyme-Linked Immunosorbent Assay ; Follow-Up Studies ; Hepatitis A ; prevention & control ; Hepatitis A Vaccines ; immunology ; Hepatitis Antibodies ; blood ; Humans ; Immunoglobulin G ; blood ; Mass Vaccination ; Vaccines, Attenuated ; immunology

Objective To evaluate the long-term immunogencity and effectiveness of live attenuated hepatitis A (HA) vaccine (H2 strain) after one dose injection, through a 15 years' follow up observation. Methods A total of 220 children with negative anti-HAV antibody (aged 1-3 y)were involved and followed up in Jiaojiang district, Taizhou city, Zhejiang province. Indicators would include seroconversion and geometric meantiter(GMT) levels after inoculation the vaccine with single dose at 2 m, 12 m, 6 years, 10 years and 15 years. Epidemiological observation was carried out within the 15 years to evaluate the relationship between vaccine coverage, the incidence of HA and the overall effectiveness. In the studied population, serum was tested by ELISA(calibrated by WHO international reference) and ABBOTT Axsym HAVAB mEIA. Results Seroconversion rates were found to be 98.6% and 81.3% after 2 months and 15 years of inoculation and slowly decreased. GMT level was 128 mIU/ml after 15 years, significantly higher than the required protective level of 20 mIU/ml,recommended by WHO experts. Effectiveness through the 15-year follow up program showed a significant correlation between vaccine coverage and incidence of HA in 1-15 years aged group (Kendall-Rank test, t =-0.931, P＜0.01). There was no HA case seen among the observed accumulated 236 413 person-year vaccines, compared to 4 HA cases discovered in the 27 206 personyear of the non-vaccinees. The overall protective rate reached 100%. Through a mass vaccination program on children, the whole population established an immune-defence to enable the incidence of HA decreased by 96.7%. Conclusion The long-term immunogencity and effectiveness of live attenuated hepatitis A vaccine (H2 strain) after one dose injection could last as long as 15 years.

【Objective】To evaluate the feasibility of magnetization transfer（MT）magnetic resonance（MR）imaging for predicting the risk of intestinal fistula in patients with Crohn disease （CD）. 【Methods】 The study prospectively enrolled 12 consecutive patients with CD and abdominal MT imaging were performed before elective surgery. The bowel wall MT ratio normalized to skeletal muscle was calculated；region- by- region correlations with the surgical specimen were performed. Histopathologic evaluation of fibrosis was executed by using Masson trichrome. Wilcoxon rank test ， Spearman rank correlation， and receiver operating characteristic curve （ROC） were used for statistical analysis.【Results】Among 15 surgical intestinal segments from 12 patients，5 lesions were found with intestinal fistula and of them 12 bowel specimens were obtained. The other 10 intestinal segments were without complications and 23 bowel specimens were enrolled. The intestinal fistula bowel showed a significant higher （P=0.045） normalized MT ratio. ROC analysis revealed an area under the curve of 0.674（95%CI：0.537-0.811）for differentiating intestinal fistula bowel from the non- fistula one. The sensitivity，specificity was 93.3% and 51.1% with a cut-off value of 76.8%，respectively. For the Masson score，significant difference（P=0.012）was found between the complicated intestinal specimens and the non-complicated ones. Additionally， the normalized MT ration was statistical correlated with Masson score （r=0.708，P<0.001）.【Conclusion】MT imaging could be a potential method to predict the risk of intestinal fistula in patients with CD.

BACKGROUNDGlobally, the proportion of child deaths that occur in the neonatal period remains a high level of 37-41%. Differences of cause in neonate death exist in different regions as well as in different economic development countries. The specific aim of this study was to investigate the causes, characteristics, and differences of death in neonates during hospitalization in the tertiary Neonatal Intensive Care Unit (NICU) of China.

METHODSAll the dead neonates admitted to 26 NICUs were included between January l, 2011, and December 31, 2011. All the data were collected retrospectively from clinical records by a designed questionnaire. Data collected from each NICU were delivered to the leading institution where the results were analyzed.

RESULTSA total of 744 newborns died during the 1-year survey, accounting for 1.2% of all the neonates admitted to 26 NICUs and 37.6% of all the deaths in children under 5 years of age in these hospitals. Preterm neonate death accounted for 59.3% of all the death. The leading causes of death in preterm and term infants were pulmonary disease and infection, respectively. In early neonate period, pulmonary diseases (56.5%) occupied the largest proportion of preterm deaths while infection (27%) and neurologic diseases (22%) were the two main causes of term deaths. In late neonate period, infection was the leading cause of both preterm and term neonate deaths. About two-thirds of neonate death occurred after medical care withdrawal. Of the cases who might survive if receiving continuing treatment, parents' concern about the long-term outcomes was the main reason of medical care withdrawal.

CONCLUSIONSNeonate death still accounts for a high proportion of all the deaths in children under 5 years of age. Our study showed the majority of neonate death occurred in preterm infants. Cause of death varied with the age of death and gestational age. Accurate and prompt evaluation of the long-term outcomes should be carried out to guide the critical decision.

Cause of Death ; China ; Female ; Hospital Mortality ; Humans ; Infant ; Infant Mortality ; Infant, Newborn ; Infant, Newborn, Diseases ; mortality ; Intensive Care Units, Neonatal ; statistics & numerical data ; Male ; Perinatal Death ; Retrospective Studies