Objective To explore the association between variation in genes related to lipid metabolism and the susceptibility of nonalcoholic fatty liver disease (NAFLD). Methods Obese children with fatty liver aged 6~18 years old were included. All of them got ultrasonic testing, routine examination and biochemical detection. In addition, the DNA of peripheral blood was extracted and the 36 target genes related to lipid metabolism were detected by next generation sequencing. Results In 368 obese children who met the inclusion criteria, 183 children (49.7%) were detected to have NAFL . 100 children with NAFLD and 100 children without NAFLD were randomly selected from obese children. The levels of body mass, waistline, alanine aminotransferase (ALT), triacylglycerol (TG), cholesterol, low density lipoprotein (LDL) and apolipoprotein B (ApoB) in NAFLD children were all higher than those in non-NAFLD children, and there were significant differences (P all<0.05). However, the levels of aspartate aminotransferase (AST), alkaline phosphatase (ALP), apolipoprotein A1 (ApoA1), fasting blood glucose, insulin, high density lipoprotein (HDL), free fatty acid (FFA) and insulin resistance index (HOMA-IR) were not significantly different between the two groups (P all>0.05). The levels of bilirubine in the two groups were within normal range. Logistic regression analysis showed that the genes of MTTP rs2306986 (OR=2.70, 95%CI: 1.38~5.27) and MTTP rs3792683 (OR=7.34, 95%CI: 2.04~26.50) that encode microsomal triglyceride transfer protein (MTTP or MTP), and the mutation of rs738409 (OR=2.11, 95%CI:1.31~4.48) in gene PNPLA3 that encode patatin-like phospholipase domain-containing protein 3 are the independent risk factors for the occurrence of the disease. Conclusion Genovariation of MTTP rs2306986, MTTP rs3792683, and PNPLA3 rs738409 may increase susceptibility to NAFLD in children.

Objective To provide an comprehensive evaluation of the correlation between sleep apnea hypopnea syn?drome (SAHS) and nonalcoholic fatty liver disease (NAFLD). Methods The various case-control studies on the relation?ship between SAHS and NAFLD were retrieved from all kinds of large-scale databases at home and abroad (including Web of science, EMbase, Pubmed, Springer Link, EBSCO Databases, CNKI, CQVIP, Wanfang Data). The quality evaluation of in?cluded studies was made by two independent researchers. RevMan 5.1 and stata 12.0 software were used for meta-analysis. Results A total of 11 qualified documents were included in this study. Meta analysis showed that the relative risk of NAFLD was increased in SAHS patients than non-SAHS patients (RR=2.82, 95%CI:2.03-3.92, P<0.01). The serum ala?nine aminotransferase (ALT) increased in SAHS patients (SMD=0.53, 95% CI:0.02-1.05, P < 0.05). Compared with non-SAHS patients, the apnea-hypopnea index (AHI) was significantly higher in SAHS patients combined with severe NAFLD than those combined with mild NAFLD (SMD=1.42, 95%CI:0.12-2.72, P < 0.05). Conclusion The risk of NAFLD in?creases in SAHS patients. The severity of NAFLD is relatively higher with the severity of intermittent hypoxia.

Objective To investigate the relationship of acute graft versus host disease (aGVHD) and the regulatory T (Treg) cells,NK cells as well as their function-related cytokines such as IL-10,TGF-β,and perforin in mice with allogeneic bone marrow transplantation.Methods H-2 completely mismatched C57BL/6→ BALB/c aGVHD mice model was constructed.Flow cytometry analysis was used to detect the proportion of CD4+CD25 + Treg cells and NK-1.1+ NK cells in the spleen of aGVHD mice after transplantation.ELISA method was used to detect the serum levels of IL-10,TGF-β and perforin in the aGVHD mice intervened with CSA prophylactic or not.The normal C57BL/6 mice were used as controls.Results Compared with those of normal mice,the proportion of Treg cells in aGVHD mice after transplantation was decreased (mean 3.6％ vs.1.55％) and the proportion of NK cells increased (mean 3.3％ vs.11.5％).In the aGVHD mice treated with cyclosporine A,serum IL-10 expression level was significantly increased (treated group (125.79 ± 0.27)pg/mL,untreated group [(103.09 ± 3.27)pg/mL,P＜0.01)],TGF-β expression level was increased [(252.05 ±7.84)pg/mL vs.(241.61±15.41)pg/mL,P＞0.05],perforin expression level was significantly increased [(186.97 ± 4.68)pg/mL vs.(144.35 ± 14.42)pg/mL,P＜0.01].Conclusion ① The occurrence of aGVHD is correlated with the decreased number of Tree cells after transplantation in mice.Treg cell function-related cytokines IL-10 and TGF-β are involved in the treatment of aGVHD by cyclosporine A-mediated immunosuppression.②NK cells are involved in the occurrence of aGVHD after allogeneic bone marrow transplantation,and the increased level of perforin is related to the inhibition of aGVHD.

Objective To investigate whether the macromolecular materials could enter cerebrospinal fluid and brain tissues in craniotomy with incision or non-incision of dura and arachnoid. Methods Adult male SD rats were randomly divided into three groups according to the random number table. The dura and arachnoid of rats in group A were cut open during craniotomy after general anesthesia; epidural craniotomy was done in rats in group B after general anesthesia; rats in group C (control group) were only generally anesthetized. All the rats were injected with Evans blue, a tracer used to detect the results, half an hour before each time point (1,3, 6, 12, 24, 72 hours and 1 week) via vein. The rats were executed at each time point to obtain the specimens of brain. The content of Evans blue in brain tissue was measured by fluorescence spectrophotometer for statistical analysis. The water content in the brain tissue was measured in a part of rats selected in groups A and B preoperatively and at postoperative 3 and 27 hours. Results It was found that some regions of the brain tissue were stained light blue in group A at 1,3, 6 and 24 hours. The blue was much lighter in brain tissue obtained at 72 hours in group A, and no blue stained at 1 week in group A . The contents of Evans blue in the brain tissues of rats in group A at 1,3, 6, 12, 24, 72 hours and 1 week were (18.07±1.25) μg/ml, (36.21±0.78) μg/ml, (25.73±1.14) μg/ml, (16.53±0.84) μg/ml, (23.34±1.91) μg/ml, (43.34±2.25) μg/ml and (25.27±1.88)μg/ml respectively, which were significantly higher than (3.15±0.45)μg/ml, (3.36±0.33)μg/ml, (2.98±0.54)μg/ml, (3.47±0.55)μg/ml, (3.54±0.37) μg/ml, (2.88± 0.42) μg/ml and (2.85±0.22) μg/ml respectively in group B and (2.97±0.37)μg/ml in group C (P<0.01). There was no significant difference in water content in brain tissue before and after operation (P>0.05). Conclusion After craniotomy with incision of dura and arachnoid, some macromolecular materials can enter the subarachnoid space and the brain parenehyma through blood-brain barrier of the wound of the scalp if the dura is sutured loosely.

A method for simultaneous determination of 20 Perfluorinated alkyl substances ( PFAS) in animal liver using QuEChERs and HPLC_MS/MS technique was developed. The samples were extracted with 0. 1%hydrochloric acetonitrile and cleaned up with C18 , N_Propylethylendiamine ( PSA ) and graphitized carbon blacks ( GCB ) . The analytes were separated by a reversed phase C18 column and gradiently eluted with a mixed solution of 5 mmol/L ammonium acetate methanol and 5 mmol/L ammonium acetate. The samples were quantified using isotope internal standard and external standard with the matrix matched standard calibration curve method. Good linearity was obtained for all the 20 PFAS at the concentration of 0. 1-10 μg/L with the linear correlation coefficients more than 0. 9995. The limits of detection (LOD) and the limits of quantification ( LOQ) for PFAS were 0. 05-0. 2 μg/kg and 0. 4-0. 5 μg/kg, respectively. The recoveries at three different concentration levels ( 0 . 5 , 2 and 5 μg/kg ) were in the range of 70 . 3% -108 . 1%. The repeatability expressed as relative standard deviations (RSD) was ranged from 2. 1% to 11. 9% (n=6).

Objective To learn about the etiology , clinical characteristics and prognosis of infants with cholestasis jaundice. Methods The clinical data of 175 cholestatic patients were retrospectively analyzed , then the prognosis was followed-up with telephone. Results After analyzing the etiology , we found that among 175 patients , there were 42 with biliary atresia , of which 19 infants died , 4 recovered well after liver transplanta-tion , 8 had liver cirrhosis waiting for transplantation , 5 recovered well after Kasai Portoenterostomy and 6 lost contact. There were 2 patients with Bile duct dysplasia and 2 with congenital cholangiectasis and they had posi-tive outcomes. And 29 patients with Cytomegalovirus infection also had positive outcome. There were 16 patients with Heredity metabolic diseases , among which 13 patients were with Citrin protein deficiency; 10 had positive outcomes; 2 lost contact and 1 died. There were 3 patients with tyrosinemia , of which one had positive outcome;one lost contact and another got liver cirohosis waiting for liver transplantation. Four patients with TPN-related cholestasis all had positive outcomes. There were still 80 cases with unkown etiology , but 79 had positive out-comes and 1 case lost. The clinical characteristics showed that the infants with cholestatic jaundice often accom-panied by stool color changed , liver and spleen enlargement and so on , and often complicated with pneumonia , hypoalbuminemia and coagulation dysfunction and so on. Conclusion There are many etiologies for infants with cholestatic jaundice. Early diagnosis and early treatment would benefit the prognosis.

Objective To explore fecal bacteria transplantation for the treatment of severe gastrointestinal disease caused by food allergy. Method The therapeutic process of fecal bacteria transplantation for treatment of severe food allergy gastrointestinal disease was retrospectively analyzed, and the related literature was reviewed. Results A 2-year-old boy had onset of intestinal infection and diarrhea was persistent even though he had received adequate anti-infection therapy and supportive treatment. Finally, the patient received the treatment of fecal bacteria transplantation and the symptoms were then improved. No adverse reactions were observed in 2 months of follow-up. In foreign literature, fecal bacteria transplantation in children is mainly applied to clostridium difficile infection (CDI) and inflammatory bowel disease (IBD), with efficiency of 90%- 100% and 55.6% - 100%, respectively. While in the domestic literature, fecal bacteria transplantation in children is mainly used in CDI and antibiotic associated diarrhea, and the effective rate is 100%. No serious adverse reactions were found in all the researches. Conclusion Fecal transplantation is safe and effective in the treatment of children with severe gastrointestinal disease caused by food allergy, but its application in children is not yet mature and needs more in-depth researches.

To explore the clinical significance of C1q tumor necrosis factor-related protein-9 (CTRP9) in patients with cerebral infarction.Our data showed that the serum CTRP9 was significantly lower than that of control group,especially in patients with large artery atherosclerotic cerebral infarction.CTRP9 was first decreased and even lower from day 4 to day 10,then gradually elevated.Logistic regression analysis suggested that high CTRP9 level was a protective factor for cerebral infarction.Thus,CTRP9 could be a factor for further classification of cerebral infarction and provides a potential option for disease prevention and treatment.

OBJECTIVETo summarize the clinical features, biochemical change and genetic mutations of a neonate with congenital bile acid synthesis disorder type 2.

METHODSClinical features, blood biochemical index, gene analysis and treatment of the patient were reviewed.

RESULTSThe patient presented with the symptoms of jaundice 3 days after birth but without skin itching. Pale stool was noted. Subsequently, he presented with hepatomegaly, blood coagulation disorders, left cochlear nerve damage, liver cirrhosis and remarkable growth retardation. Serum biochemistries showed that bilirubin and transaminase were elevated, while γ -GT and total bile acid was normal. Abdominal ultrasonography indicated decline of gallbladder contraction. Cholangiography showed normal extra- and intrahepatic bile ducts and patent biliary tract. Liver biopsy showed intrahepatic cholestasis. Gene testing has identified a homozygous mutation in AKR1D1 gene.

CONCLUSIONCongenital bile acid synthesis disorder should be suspected when a neonate has presented with jaundice, elevated bilirubin and transaminase, normal or reduced TBA and γ -GT. Genetic testing and urine mass spectrometry analysis can diagnose congenital bile acid synthesis disorder. Early therapy is crucial to patients with congenital bile acid synthesis disorder.

Objective To analyze the differential protein expression of three negative breast cancer tissue before and after menopause application of iTRAQ technology, to explore the effects of menopause on three negative breast cancer. Methods Selected premenopausal and postmenopausal women with 8 cases in each by negative pathological diagnosis, differential protein analysis on significant function, difference of protein pathway and difference of protein verify were analyzed by the application iTRAQ technology. Results (1﹚Differential protein interactome was relatively centralized premenopausal, and postmenopausal differences of protein was much, and the distribution of the dispersed. (2﹚In pre menopausal cancer tissue protein differences existed in 5 of the significant difference in differences approach; post-menopausal cancer tissue protein existsed in 15 significantly different pathways. (3﹚Tumor adjacent tissues compared with premenopausal had a total of 214 significant difference proteins, postmenopausal had a total of 360 significant differ-ence proteins. The upregul ated proteins in 81 kinds of premenopausal three negative breast cancer tissues, 133 down regμl ated proteins, postmenopausal up-regμl ated protein 157 types, down 203. Conclusion Using iTRAQ technology to found that the expression has a certain particμl arity differences in three negative breast cancer before and after menopause, indicate three negative breast cancer may have different pathogenesis in the different estrogen environment, may be a new target for treatment of TNBC.