Objective To analyze the etiology of duodenal trauma and improve the result of its diagnosis and treatment. Methods The data of 28 cases with duodenal trauma during March 1968 to September 2007 was analyzed retrospectively. Results Twenty-two (78.6%) patients had blunt injuries. The rate of duodenal trauma and associated injuries was 21.4%(6/28)and 89.3% (25/28) respectively. The easiest injury part on the deseending part constituting was 46.4% (13/28) ,the secondary on the horizontal part constituting was 21.4% (6/28).The postoperative complication rate was 28.6% (8/28), the mortality rate was 3.6% (1/28), and the cure rate was 96.4% (27/28). Conclusions The incidence of blunt injuries is high compared with other kinds of duodenal trauma in China. It suggests that the early diagnosis, exploration proper surgical management,and intensive postoperative care are emphasized to reduce the mortality and complication rate.

Objective:Mutation in the gap junction beta 6 (GJB6) gene has been reported to be associated with an autosomal dominant disorder hidrotic ectodermal dysplasia (HED), characterized by congenital nail clubbing, alopecia and palmoplantar keratoderma. The aim of this study is to investigate relationship between genetic mutation in GJB6 and HED in an affected Chinese family.
Methods:We selected a Chinese HED family consisting of a total of 17 individuals including 8 HED patients (5 males and 3 females). The whole coding region of GJB6 was amplified by polymerase chain reaction and sequenced.
Results:Sequence analysis identified a heterozygous missense mutation c.31G>A (p.G11R) in GJB6 gene of affected individuals, but not in healthy individuals.
Conclusion:A c.31G>A (p.G11R) missense mutation in GJB6 gene is the genotypic characteristic for HED in Chinese population.

Objective To analyze the methods and strategy of treatment for multiple injuries in the use of damage control operation, and improve the treatment level and cure rate for multiple injuries.Method From March 2005 to March 2009, 21 patients with multiple injuries were treated by damage control strategy and performed the determinacy operation after the resuscitation in ICU. Results In 21 patients, 16 cases (76.2%) were cured and 5 cases (23.8%) were dead. The injury severity score of 5 dead cases were exceeded 35 points. Conclusions In the strategy of damage control operation, the surgical operation is considered to be a part of the total resuscitative procedure, not the ending of treatment. To those multiple injuries patients, it is safe and effective to perform the damage control operation. It has practical value in clinical treatment.

The objective of this study was to characterize the genome structure of duck hepatitis B virus (DHBV) isolated from Hubei brown ducks. The natural carrier rate of DHBV in adult ducks from Hubei area was investigated and the DHBV DNA-positive serum screened out. The complete genome of a DHBV strain was amplified by polymerase chain reaction (PCR) and cloned into T vector and sequenced. The results showed that the carrier rate of DHBV in Hubei brown ducks was 10 %. This strain (GenBank accession number DQ276978) had a genome of 3024 nucleotides with three overlapping open reading frames encoding the surface, core and polymerase proteins respectively. Comparison of the strain with 17 DHBV strains registered in GenBank revealed a homology from 89.3 % to 93.5 % at the nucleotide level. The sequences of the structural and functional domains of these proteins were highly conserved. The strain was found to share more signature amino acids in the polymerase genes with the "Chinese" DHBV strains than those of the "Western" country strains. This finding was also corroborated by a phylogenetic tree analysis. Therefore, the DQ276978 might belong to a subtype of the Chinese DHBV strains.

OBJECTIVETo investigate the mutation characteristics of ATM gene in Chinese patients with ataxia-telangiectasia (AT).

METHODSMutation of ATM gene was screened by polymerase chain reaction, reverse transcription-polymerase chain reaction, polyacrylamide gel electrophoresis combined with DNA direct sequencing in two Chinese AT patients.

RESULTSA missense mutation of 1346(G>C) in exon 11, which was a homozygotic mutation, was identified in one patient; a nonsense mutation of 610 (G>T) in exon 6 combined with a missense mutation of 6679 (C>T) in exon 47, which was a compound heterozygotic mutation, were identified in the other patient. They were co-segregated with the disease and were localized within the functional domain of ATM gene.

CONCLUSIONTotally three novel ATM gene mutations were identified in two Chinese AT patients.

Ataxia Telangiectasia Mutated Proteins ; Base Sequence ; Cell Cycle Proteins ; genetics ; Child ; China ; Codon, Nonsense ; DNA Mutational Analysis ; DNA-Binding Proteins ; genetics ; Female ; Gene Frequency ; Humans ; Male ; Mutation ; Mutation, Missense ; Protein-Serine-Threonine Kinases ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Spinocerebellar Ataxias ; genetics ; Tumor Suppressor Proteins ; genetics

OBJECTIVE: To study the influence of maternal sex chromosomal abnormalities on the prediction of fetal sex chromosome abnormalities (SCAs) by non-invasive prenatal testing (NIPT). METHODS: Thirty-six pregnant women with a prediction for fetal SCAs by NIPT were verified as false positive after prenatal diagnosis using amniotic fluid samples. With informed consent, these women were subjected to chromosomal karyotyping or copy number variations (CNVs) analysis through high-throughput sequencing. RESULTS: Sex chromosomal abnormalities were found in 8 women, which yielded an abnormal rate of 22.22% (8/36). Among these, 3 had sex chromosome aneuploidies (47, XXX), 4 had sex chromosome mosaicisms, and 1 carried structural chromosomal abnormalities. Reanalysis of the results of NIPT were consistent with the maternal CNVs by large. With the ratio of cffDNA (ChrX)/cffDNA was more than 2, 6 of the eight women were found to harbor sex chromosome abnormalities, and the fetal karyotype was normal. However, with a ratio of less than 2, only 2 of the 38 pregnant women had sex chromosome abnormalities, and 10 of the fetuses were confirmed as positive. CONCLUSION The presence of maternal sex chromosomal abnormalities can greatly influence the result of NIPT, which may also be an important reason for false prediction for fetal SCAs by NIPT. When NIPT indicates abnormal SCAs, it is necessary to analyze maternal sex chromosomes. The ratio of cffDNA(ChrX)/cffDNA may help to determine the source of abnormal signals.

Objective To explore the changes in gravida's age and its influences on maternal and neonatal complications under China's two-child policy.Methods This study retrospectively analyzed the clinical data such as adverse gestational complications and fetal condition of 42 771 gravidas delivering at Changzhou Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University from July 2013 to December 2017.According to their age at delivery,they were divided into three groups:the younger maternal age group (1 140 cases,＜20 years),the advanced maternal age group (4 307 cases,≥ 35 years) and the median maternal age group (37 324 cases,≥ 20 and ＜35 years).Chi-square test was used to compare the differences among groups.Cochran-Armitage test was used for trend analysis.The risks of various complications in younger and advanced maternal age groups were analyzed by binary logistic regression analysis.Results (1) The proportion of advanced maternal age pregnancies tended to rise gradually year by year (Z=-9.909,P＜0.001).However,the figure of younger gravidas remained low and presented a downward trend (Z=10.685,P＜0.001).(2) The incidence of pregnant complications in the younger,advanced and the median maternal age groups were 52.8％ (602/1 140),72.3％ (3 116/4 307) and 56.5％ (21 091/37 324),respectively.Compared with the median maternal age group,the advanced maternal age group was at greater risks of premature delivery [9.0％ (3 343/37 324) vs 11.6％ (499/4 307),x2=124.233,P＜0.001],fetal growth restriction (FGR) [0.6％ (218/37 324) vs 1.2％ (50/4 307),x2=20.087,P＜0.001],postpartum hemorrhage [5.7％ (2 120/37 324) vs 7.8％ (336/4 307),x2=31.299,P＜0.05],hypertensive disorders in pregnancy(HDP) [4.2％ (1 561/37 324) vs 8.7％ (376/4 307),x2=180.013,P＜0.001],gestational diabetes mellitus (GDM) [7.6％ (2 845/37 324) vs 15.1％ (650/4 307),x2=280.126,P＜0.001]and placenta previa [1.7％ (621/37 324) vs 3.8％ (165/4 307),x2=97.904,P＜0.001],and the younger maternal age group was at greater risks of HDP [4.2％ (1 561/37 324) vs 5.9％ (67/1 140),x2=4.234,P=0.040],fetal distress [3.5％ (1 325/37 324) vs 5.1％ (58/1 140),x2=7.546,P=0.006],premature delivery [9.0％ (3 343/37 324) vs 15.0％ (171/1 140),22=48.668,P＜0.001] and FGR [0.6％ (218/37 324) vs 1.1％ (12/1 140),x2=4.086,P=0.043].(3) Gestational complications in the younger maternal age group were mainly related to the fetuses such as premature rupture of membranes (PROM) and premature delivery,while the advanced maternal age group had a higher incidence of maternal complications,especially GDM and HDP.(4) Most of the gravidas of advanced maternal age with HDP developed severe preeclampsia (47.9％,180/376),while mild preeclampsia was dominant in the median maternal aged HDP women (45.4％,708/1 561).(5) The advanced maternal age group had higher risk of stillbirth,premature delivery,FGR,placenta previa,GDM,HDP and postpartum hemorrhage [OR(95％CI):1.91 (1.29-2.84),1.33 (1.21-1.46),1.66 (1.21-2.28),2.56 (2.15-3.04),2.39 (2.19-2.61),2.36 (2.11-2.65),1.46 (1.31-1.62);all P＜0.05],but lower risks of fetal distress and PROM [OR(95％CI):0.79 (0.65-0.95) and 0.88 (0.81-0.96);both P＜0.05].The younger maternal age group had a higher risk of premature delivery [OR(95％CI):1.97 (1.61-2.40);P＜0.001],but significant lower risks of PROM and GDM [OR(95％CI):0.77 (0.62-0.95) and 0.05 (0.02-0.16);both P＜0.05].Conclusions Maternal age is closely related to the adverse outcomes of pregnancy.Two-child policy in China will bring about changes in maternal age and composition of pregnant complications.

The objective of this study was to characterize the genome structure of duck hepatitis B virus (DHBV) isolated from Hubei brown ducks. The natural carrier rate of DHBV in adult ducks from Hubei area was investigated and the DHBV DNA-positive serum screened out. The complete genome of a DHBV strain was amplified by polymerase chain reaction (PCR) and cloned into T vector and sequenced. The results showed that the carrier rate of DHBV in Hubei brown ducks was 10 %.This strain (GenBank accession number DQ276978) had a genome of 3024 nucleotides with three overlapping open reading frames encoding the surface, core and polymerase proteins respectively. Comparison of the strain with 17 DHBV strains registered in GenBank revealed a homology from 89.3 % to 93.5 % at the nucleotide level. The sequences of the structural and functional domains of these proteins were highly conserved. The strain was found to share more signature amino acids in the polymerase genes with the "Chinese" DHBV strains than those of the "Western" country strains.This finding was also corroborated by a phylogenetic tree analysis. Therefore, the DQ276978 might belong to a subtype of the Chinese DHBV strains.

OBJECTIVETo explore the cause of failure of non-invasive prenatal testing (NIPT) using cell-free fetal DNA from peripheral maternal blood.

METHODSA total of 31 832 cases of NIPT were retrospectively analyzed. The clinical data of pregnant women were analyzed and the outcome of pregnancy was followed up.

RESULTSAmong the 31 832 cases, 200 patients have failed for the first NIPT test. Second test has succeeded in 171 (85.9%) of 199 cases, while 28 cases (14.1%) still yielded no effective results. This gave rise for a total failure rate of 0.088%. Of the 28 cases, 11 (39.2%) were due to high content of total free DNA and could not be sequenced, 17 (60.7%) were found to have the fetal DNA content of less than 4%. Among the 171 cases which have obtained a valid result, NIPT showed that there were 4 patients with high risk of trisomy 21, 18 cases with high risk of 18 trisomy and 1 case with high risk of 13 trisomy. Karyotyping analysis of the amniocytic chromosomes has identified 3 cases with 47,XN,+21, 1 case with 46,XN,rob(21;21), 1 case with 47,XN,+18, while the 13 trisomy case was found to be false positive. For the 28 cases with failed NIPT retest, 14 had normal delivery, with no anomaly noticed in the neonates. Nine patients had opted for artificial abortion during middle or late pregnancy due to maternal factors (4 cases) or fetal factors (5 cases). Four patients developed complications of pregnancy. One case was in good condition upon follow-up. Four cases were lost during follow-up. Of the 11 pregnant women who had failed the NIPT test due to high content of total free DNA, 6 (54.5%) had opted for artificial abortion during midterm pregnancy, which was significantly higher than that of pregnant women with low free DNA content (17.6%).

CONCLUSIONFailure of NIPT testing should attract attention from researchers. Failure of single NIPT test should not be regarded as a high risk signal for fetal chromosomal aneuploidies. For those where the test has failed again, genetic counseling and strengthened perinatal care should be provided for the pregnant women.