Objective To analyze the main clinical manifestations,laboratory features and prognosis of neonatal intrahepatic cholestasis caused by Citrin defiency (NICCD).Methods Twenty-nine NICCD infants were diagnosed by blood tandem mass spectrometry (MS-MS)analysis and/or SLC25A13 mutation analysis from July 2012 to February 2015 in Children's Hospital of Chongqing Medical University.Clinical data of 29 cases were analyzed retrospectively which included manifestations,laboratory features and prognosis.The general situation,feeding,liver function,growth were followed up.Results Twenty-nine infants suffering from NICCD presented jaundice in an early time,and some clinical manifestations were investigated such as hepatomegaly (20/29 cases),splenomegaly (3/29 cases),anemia (14/29 cases),and failure to thrive (9/29 cases).Laboratory data suggested that all of 29 patients had increased conjugated bilirubin,total bile acid,γ-glutamyl transferase and alkaline phosphatase.Some patients also showed abnormal coagulation function (20/22 cases),dyslipidemia (9/20 cases),increased blood lactic acid (22/26 cases) and alpha-fetoprotein (14/14 cases),decreased albumin (24/29 cases),blood glucose (17/22 cases) and ceruloplasmin (4/4 cases).The pathological analysis of one patient's liver indicated the edema and degeneration of liver cells,intrahepatic cholestasis and a small amount of fibrous tissue hyperplasia in portal area.MS-MS analysis of blood samples revealed distinctive increase in methionine,tyrosine,threonine,citrulline,arginine and free carnitine,long chain acyl-carnitine in most patients.Gas chromatography-mass spectrometer (GC-MS) analysis of urine samples mainly showed elevated 4-hydroxyphenyllactic acid and 4-hydroxyphenylpyruvic acid.Prognosis showed that most of the NICCD patients (8/29 cases) could recover in one-year old with a lactose-free,medium chain triglyceride-enriched formula,and one patient died of liver cirrhosis.Three patients at over one-year old had the preference of a high protein and low carbohydrate diet.Conclusions Infants might be considered to have NICCD if they have jaundice in an early time,with the clinical characteristics of hepatomegaly,splenomegaly,abnormal coagulation function,anemia,failure to thrive,dyslipidemia,decresed albumin and blood glucose,increased blood lactic acid and alpha-fetoprotein.After that further tests of MS-MS,GC-MS and gene analysis of this disease are needed to confirm diagnosis.

Objective To study and construct related models of medical evacuation of the wounded during earthquake relief.Methods Based on the Agent model,the boundary of the medical evacuation system for the wounded was determined and the Agent model system was established according to the medical service theory about medical evacuation of the wounded during earthquake relief.Using Agent-based modeling,the structure,attribute,related behavior and function of key Agent models were analyzed and the model structure was presented.Results and Conclusion The Agent model system including 11 Agent models is divided into business Agent modeling,assistant Agent modeling and environment Agent modeling.Six key models are built,and the interaction and coordination mechanisms of various types Agent models are established.

Objective To evaluate the effect of rocuronium on entropy to endotracheal intubation during anesthesia induction with propofol. Methods Forty patients anesthetized induction with propofol using a target-controlled infusion were randomly divided into two groups: rocuronium group (R group, 20 cases) received 0.6 mg/kg rocuronium or saline group (S group, 20 cases) received saline. 2-3 min later, endotracheal intubation was performed. Response entropy(RE) and state entropy(SE) were recorded during baseline(Ta), at steady state(Tb), 2 min after rocuro nium or saline administration (Tc) and 0, 1, 2 and 3 min after endotracheal intubation (T0, T1, T2, T3). Results At T2, the RE-SE was higher in S group than that in R group. Endotracheal intubation induced increasing in RE and SE. Comparing T2 and T0 values in R group and S group, SE increased from 42 ± 7 to 50 ± 8 and 43 ± 13 to 55 ± 12, and RE increased from 45 ± 6 to 54 ± 9 and 48 ± 16 to 66 ± 15, respectively. At T0, RE and RE-SE were higher in S group. Conclusion Rocuronium affects RE-SE and RE and RE-SE responses to endotracheal intubation and may confound interpretation of entropy monitoring.

Objective To study the changes of lipid levels and body weight during the treatment of bipolar disorder by lithium carbonate combined with olanzapine or lithium. Methods Lipid and body weight was measured in forty-six patients with bipolar disorder in the first six months (treated by lithium carbonate combined with olanzapine) and in the second six months (treated by lithium only). Then the results were compared with the data before the treatment. Results When the first six months was over,the levels of the total cholesterol, triglyceride and apolipoprotein B increased(P＜ 0.05 ) ,and when the second six months was over,the levels of the total cholesterol,triglyceride,low density lipoprotein cholesterol (LDL-C),and apolipoprotein B increased Significantly (P ＜ 0.05 ). The levels of the total cholesterol, triglyceride, LDL-C were more than the normal level,but apolipoprotein B didn't exceed the normal level. When the first six months was over, the body weight was higher than that before treatment [ (68.70 ± 8.35 ) kg vs. (64.85 ±7.52 ) kg, P ＜ 0.05 ]. When the second six months was over, the body weight [ (71.72 ± 7.96 ) kg ] was higher than that at the end of the first six months (P ＜ 0.05 ). Gender difference showed non-statistical significance.Conclusions The lipid levels and body weight will both increase whether treated with lithium carbonate combined with olanzapine or with lithium only. The lipid level changes apparently in treatment with lithium separately, and the risk of coronary heart disease will increase.

2 mg/dl);the others were in the low-risk group.High-risk patients received more superselective embolization with lower dose of embolization agent and fewer numbers of procedure(1.4 vs 2.3,P

Objective To evaluate the application value of percutaneous transsplenic varices embolization(PTSVE)in the treatment of upper gastrointestinal hemorrhage in patients with schistosomiasis cirrhosis. Methods Sixteen schistosomiasis cir-rhosis patients(12 males and 4 females)with portal hypertension complicated with esophageal and upper gastrointestinal hemor-rhage were selected as the investigation subjects,all the patients had been treated by esophageal vein ligation and sclerothera-py,but with bleeding again post-operation. The patients were treated by PTSVE under the guidance of X-ray fluoroscopy. The success rate of PTSVE and the rate of complications were observed. In addition,the patients received PTSVE were reexamined with abdominal CT one month post-operation,and the degrees of varices were compared before and after PTSVE. Results Four-teen cases(87.50%)were successfully treated with PTSVE. Two cases(12.50%)failed,and one case had an abdominal bleed-ing 1 week post-operation. The abdominal CT showed the degrees of esophageal varices(P < 0.001),esophageal vein(P <0.001)and gastric varices(P < 0.001)were significantly decreased in the patients who received PTSVE one month after the op-eration. Conclusions PTSVE is a safe and effective method in the treatment of upper gastrointestinal hemorrhage in the pa-tients with schistosomiasis cirrhosis. PTSVE is especially suitable for the patients with severe liver cirrhosis,significantly bor-dered liver split,and bared main portal vein and even the branches.

Objective To discuss the application of the degree of portal systemic shunting in assessing the upper gastrointes-tinal bleeding in patients with hepatic schistosomiasis. Methods Thirty - three patients with upper gastrointestinal bleeding caused by hepatic schistosomiasis(a bleeding group)and 29 schistosomiasis cirrhosis patients without bleeding(a non-bleeding group)were enrolled as investigation subjects in Jinshan Hospital. The subjects were scanned by the 128 abdominal slice spiral CT. The portal systemic shunting vessels were reconstructed by using thin slab maximum intensity projection(TSMIP)and multi-planar reconstruction(MPR). The degrees of the shunting vessels of the subjects were evaluated and compared,and the relation-ship between upper gastrointestinal bleeding and the degree of the shunting was analyzed. Results In the bleeding group,the occurrence rates of the shunting vessels were found as follows:86.4% in left gastric varices,68.2% in short gastric varices, 50.0% in esophageal varices,50.0% in para-esophageal varices,37.9% in gastric varices,69.7% in gastric-renal varices, 51.5% in spleen-renal varices,25.8% in abdominal wall varices,15.2% in omentum varices,63.6% in para-splenic varices, 34.8% in umbilical varices,40.9% in retroperitoneal-paravertebral varices,and 36.4% in mesenteric varices. In the bleeding group,the occurrence rates and the degree of shunt were significantly higher than those in the non-bleeding group in esophageal varices,esophageal vein,left gastric vein and gastric varices(all P < 0.05). Conclusions CT portal vein reconstruction can accurately display the location,degree and walking of all kinds of shunting vessels. Esophageal varices,esophageal vein,left gastric vein and gastric varices can accurately predict the risk of upper gastrointestinal bleeding in patients with hepatic schisto-somiasis. The patents with higher degree of the shunting vessels have a higher risk of gastrointestinal bleeding.

Objective:To explore the DNA methylation patterns and methylation differential genes of patients with coal-burning-borne endemic fluorosis, and to provide a basis for study of the pathogenesis of fluoride-induced body injury.Methods:A case-control study was conducted in Shuicheng County, Liupanshui, Guizhou Province, ten patients with severe fluorosis were selected as the fluorosis group in Douqing Township, where people burning high fluorine coal in open range all year round; and ten people without fluorosis phenotype were selected as the control group in Huaga Township, where firewood was the main fuel. Peripheral blood samples were collected from the two groups of people. Reduced representation bisulfite sequencing (RRBS) technique was used to detect the whole genome DNA methylation pattern ( n = 4) and DNA differentially methylated region (DMR), the DMR differential degree (log 2Ratio) and KEGG pathway enrichment analysis were used to screen the methylation differential genes, and real-time PCR was used to verify the mRNA expression levels of the candidate methylation differential genes( n = 10). Results:The methylation pattern analysis results showed that the methylation levels of all C bases in the genome DNA of the fluorosis group and the control group were (61.53 ± 0.59)% and (62.48 ± 1.53)%, respectively; among them, the methylated levels at CG sites were (63.75 ± 0.65)%, (64.36 ± 1.01)%, at CHG sites were (13.79 ± 0.72)%, (16.69 ± 4.06)%, and at CHH sites were (25.12 ± 1.72)%, (29.77 ± 3.97)%. Compared with the control group, patients in the fluorosis group had 1 000 DMR distributed on different autosomes; and the chromosome 19 was the most with 104 segments. There were 978 DMR-related genes, including 265 hypermethylation genes and 713 hypomethylation genes; KEGG pathway enrichment analysis showed that methylation differential genes were mainly involved in cell metabolism, cancers, and phosphatidylinositol 3-kinase-protein kinase B (PI3K-AKT) and other signaling pathways; combined with the differential degree of DMR, the hypermethylated succinate dehydrogenase complex flavoprotein subunit A pseudogene 3 (SDHAP3, log 2Ratio = 3.487) and hypomethylated nuclear factor κB inhibitor kinase regulatory subunit γ (IKBKG, log 2Ratio =-4.436) were selected as the candidate genes. There were statistically significant differences in the mRNA expression levels of SDHAP3 (0.54 ± 0.08, 1.00 ± 0.00) and IKBKG (1.32 ± 0.39, 1.00 ± 0.00) between fluorosis group and control group ( F = 22.94, 15.09, P < 0.01 or < 0.05). Conclusion:There are a large number of methylation differential genes in the genomes of patients with coal-burning-borne endemic fluorosis and controls, the hypermethylated SDHAP3 and hypomethylated IKBKG may be involved in fluoride induced body injury.

Objective To explore the correlation between myeloperoxidase (MPO) genetic variation and coal-burning endemic fluorosis, and to understand the influence of integrated intervention including stove changes and health education on people’s health in the area. Methods In 2007, coal-burning endemic fluorosis disease areas were selected in Bijie City, Guizhou Province. No stove changes in Yachi Town, 150 patients with dental fluorosis were selected as fluorosis non-intervention group, and the intervention group was 150 patients in Changchun Town where the stoves were changed 2 years ago. The population in control group was selected in an area with non-endemic fluorosis in Changshun County. The mRNA expressions of MPO in leukoxytes were detected by real-time PCR. HepG2 cells were cultured in vitro and divided into four groups: pGL3-A group, pGL3-G group, pGL3-Control group and pGL3-Basic group. pGL3-A and pGL3-G were recombinant plasmid, while pGL3-Basic as a blank control and pGL3-Control as a positive one. The internal reference plasmid pRL-TK co-transfected the HepG2 cells with pGL3-G, pGL3-A, pGL3-Basic and pGL3-Control, respectively. The influence of sudden change of MPO gene promoter on the gene transfection activity was evaluated by a dual luciferasereporter gene system. Results The expression level of MPO mRNA in peripheral blood leukocytes in non-intervention group(0.054 ± 0 . 003 ) were higher than control and intervention groups (0.019 ± 0.004,0.019 ± 0.003, all P<0.05), and no significant change was found between intervention group and control group(P>0.05). After the MPO-463G/A locus genetic variation occured, the luciferase reporter gene expression level of the recombinant plasmid pGL3-G(0.753 4 ± 0.086 6) was higher than that of the pGL3-A(0.490 0 ± 0.022 3, P < 0.05). Conclusions The study on MPO gene promoter-463G/A locus has prompted that MPO gene allele may be a protective factor to coal-burning fluorosis. The integrated interventions have a role in the prevention and treatment of endemic fluorosis.

OBJECTIVETo study the genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) among the Han, Buyi and Miao populations in Guizhou and to provide genetic data for establishment of the genetic polymorphism bank of Guizhou Minorities.

METHODSThe technique of polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) was used to detect the genotype and allele frequencies at two mononucleotide sites (677 and 1298) of MTHFR among the Han population in Libo county, the Buyi population in Libo county and the Miao population in Leishan county.

RESULTSAt the site of 677, the T allele frequencies were found to be 22.8%, 16.1%, 10.6%, for the Han, Buyi, Miao populations respectively. At the site of 1298, the C allele frequencies were 28.9%, 39.1%, 48.7% for the Han, Buyi, Miao populations respectively. The frequencies for the combined heterozygote of 677CT/1298AC were 16.66%, 22.7%, 11.1% for the three populations respectively. Moreover, one case with combined homozygote of 677TT/1298CC was seen in the Miao population.

CONCLUSIONThe polymorphisms of the two mononucleotide sites (677 and 1298) of MTHFR are diverse in different populations. The C allele frequencies at the site of MTHFR 1298 of the Miao population in Leishan county and the Buyi population in Libo county are high, and the C allele frequency in the Miao population is higher than those hitherto reported in literature.

Base Sequence ; China ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Methylenetetrahydrofolate Reductase (NADPH2) ; genetics ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics ; Polymorphism, Restriction Fragment Length ; Sequence Analysis, DNA