Objective To identify mutations of CACNA1A gene in a family with hemiplegic migraine.Methods Total genomic DNA was extracted from a family with 3 affected members and 1 000 healthy controls.The proband and his patient sister were subjected to exome sequencing.Ten family members including 3 patients were subjected to linkage analysis.The coding exons of the CACNA1A gene were amplified and sequenced in affected and normal individuals. Bioinformatics analysis were performed.Results A novel CACNA1A mutation was identified in the 3 patients.The nonsense mutation of A to G was detected at nucleotide 1168 ( c.1168A >G) which converted the Asn codon ( AAT) to Asp (GAT) in exon 8.Conclusion The mutation(N390D) detected in the present study is considered to result in the Chinese Hemiplegic migraine family.

Teaching principles and class content were stated for a experimental course of common pathogenic bacteria detection methods for the undergraduate student in food quality and safety major. They include course material preview, advanced teaching methods, combination of teaching and research, graduate teaching assistant, experimental reports writing and experimental skills evaluation. All these means lead to a good teaching outcome.

AIM:To determine the effects of glutamine ( Gln) pretreatment on occludin protein in the rats with intestinal ischemia-reperfusion ( I/R ) injury.METHODS: Male Wistar rats ( n =30 ) were randomly divided into 3 groups (n=10):sham group, I/R group and Gln pretreatment group.The rats in Gln pretreatment group were pretreated with Gln at dose of 1 g? kg-1? d-1 by orogastric route for 7 d, and those in the other 2 groups were pretreated with the same volume of normal saline .Intestinal I/R was induced by 30-min occlusion of the superior mesenteric artery followed by 24 h of reperfusion.After the operation, the levels of IL-10, IL-2, TNF-α, SOD and MDA were measured.The occludin protein was determined by the methods of immunohistochemistry and Western blotting .RESULTS: The occludin protein level in I/R group was significantly lower than that in sham group and Gln group (P<0.05).The levels of MDA and TNF-αin I/R group were significantly higher than those in sham group and Gln group ( P<0.05 ) .The levels of SOD , IL-10 and IL-2 in I/R group were significantly lower than those in sham group and Gln group ( P<0.05 ) .CONCLUSION:Glutamine has a protective effect on occludin protein in intestinal ischemia-reperfusion injury .The mechanism may be rela-ted to oxidative stress response and inflammatory inhibition .

Objective To investigate the relationship between familial hemiplegic migraine (FHM ) with the mutation of CACNA1A gene .Methods Total genomic DNA of a family affected members and 1 000 normal controls was extracted for conduc‐ting the CACNA1A gene sequencing research and the bioinformatics analysis .Results The novel mutation site c .1168A>G of ex‐on located in CACNA1A gene led to Asn to be replaced with Asp (N390D) .Conclusion The mutation(N390D) of CACNA1A gene is a newly found novel pathogenic mutation lead to familial hemiplegic migraine .

Female ; Humans ; Hydrocarbons, Chlorinated ; poisoning ; Male ; Middle Aged ; Occupational Diseases

OBJECTIVETo study the effect of Jianpi Jiedu Recipe (JJR) on the expression of cyclooxygenase (COX-2) in Helicobacter pylori (Hp) infected gastric cancer cell line MKN 45, and its regulatory mechanism of p38MAPK signal transduction.

METHODSThe expressions of COX-2 mRNA and protein in human gastric cancer cell line MKN 45 infected by Hp type strain NCTC 11637 and the regulatory effect of JJR containing serum were detected using Real-time fluorescent quantitative polymerase chain reaction (RFQ-PCR) and Western blot. The effects of Hp on COX-2 mRNA and protein expressions in human gastric cancer cell line MKN 45 were observed using blocking p38MAPK signal transduction pathway by p38MAPK specific inhibitor SB203580. The effects of JJR on Hp-infection activated p38MAPK signal transduction pathway and its downstream activating transcription factor 2 (ATF-2) were observed.

RESULTSCOX-2 mRNA and protein expressions were obviously higher after human gastric cancer cell line MKN 45 were infected by Hp (P<0.01). After blocking p38MAPK signal transduction pathway, COX-2 mRNA and protein expressions in Hp-induced MKN 45 cell line were obviously down-regulated (P<0.01). JJR containing serum down-regulated Hp-induced COX-2 mRNA and protein expressions in MKN 45 cell line in a dose dependent manner. Besides, it could inhibit the activation of Hp-induced p38MAPK signal pathway. It also showed obvious inhibition on the activity of its downstream transcription factor ATF-2.

CONCLUSIONSHp infection induced COX-2 expressions of gastric cancer cells via p38MAPK signal transduction pathway. JJR inhibited Hp-induced the expression of COX-2 through regulating p38MAPK/ATF-2 signal transduction pathway, which may be one of its mechanisms in prevention and treatment of Hp-induced gastric cancer.

Activating Transcription Factor 2 ; metabolism ; Animals ; Cell Line, Tumor ; Cyclooxygenase 2 ; metabolism ; Drugs, Chinese Herbal ; pharmacology ; Gene Expression Regulation, Neoplastic ; Helicobacter pylori ; drug effects ; Humans ; Imidazoles ; pharmacology ; MAP Kinase Signaling System ; drug effects ; Pyridines ; pharmacology ; Rats ; Rats, Sprague-Dawley ; Serum ; Signal Transduction ; drug effects ; Stomach Neoplasms ; metabolism ; microbiology ; p38 Mitogen-Activated Protein Kinases ; antagonists & inhibitors

Objective To study the feasibility of TNF-α promoting migration of rat mesenchymal stem cells (MSCs) to local damaged tissues. Methods The MSCs was exposed to TNF-α at different concentrations and the expression rate of surface adheslon molecules and specific markers as well as their adhesion to endothelial cells were detected.Based on the above steps,the MSCs stimulated with the optimal concentration of TNF-α were obtained and were injected intravenously to the rats whose hindlimbs experienced ischemia damage.The rats were executed for achieving the muscle samples in the ischemic area,which were made into frozen section to count the number of MSCs. Results ( 1 ) Twenty-four hours after the TNF-o stimulation,the expression of adhesion molecule (VCAM-1) of MSCs increased in a concentration-dependent manner,while the expression of adhesion molecules (ICAM-1,L-Selectin and VLA4) of MSCs showed no significant changes.Besides,the expression rate of specific markers of MSCs was also obscure.(2) Exposed to 10 ng/ml TNF-o,MSCs presented an obviously increased ability in adhesion to the endothelial cells.(3) MSCs stimulated with 10 ng/ml TNF-α showed a larger number in the ischemia-damaged tissue of rat hindlimbs than that in the control group. Conclusion TNF-α at concentration of 10 ng/ml is effective within a short term in increasing VCAM-1 expression in rat MSCs and promoting the adhesion of MSCs to endothelial cells without affecting their character.

To study the chemo-preventive effect of the supercritical extracts from Angelica sinensis (SFE-AS) on induced colorectal carcinoma in mice by using the AOM/DSS-induced male mice colorectal carcinoma model, and discuss its possible action mechanism. Male Balb/c mice were subcutaneously injected with single dose of azoxymethane (AOM, 10 mg x kg(-1) body weight). One week later, they were given 2% dextran sodium sulfate (DSS) in drinking water for 7 days to induce colorectal carcinoma. Each drug group was orally administered with supercritical extracts from Angelica sinensis at 15, 30, 60 mg x kg(-1) until the 17th week. The tumor incidence rate of the SFE-AS group, mice tumor-bearing quantity and tumor-bearing volume of the SFE-AS group were lower than that of the AOM/DSS model control group, which may be related with the significant reduction of PCNA, COX-2, iNOS in the AOM/DSS-induced mouse colorectal carcinoma model associated with inflammation by SFE-AS. According to the results of this study, SFE-AS showed an intervention effect in the incidence and development of AOM/DSS-induced mouse colorectal carcinoma associated with inflammation, and could be further used in chemo-preventive studies on human colorectal carcinoma.
Angelica sinensis ; chemistry ; Animals ; Azoxymethane ; adverse effects ; Colonic Neoplasms ; chemically induced ; genetics ; immunology ; prevention & control ; Colorectal Neoplasms ; chemically induced ; genetics ; immunology ; prevention & control ; Cyclooxygenase 2 ; genetics ; metabolism ; Dextran Sulfate ; adverse effects ; Disease Models, Animal ; Drugs, Chinese Herbal ; administration & dosage ; Humans ; Male ; Mice ; Mice, Inbred BALB C ; Proliferating Cell Nuclear Antigen ; genetics ; immunology

Objective:To investigate the correlation of single nucleotide polymorphisms (SNPs) in the PRRC2A gene with the susceptibility to sporadic breast cancer among Han women in Jiangsu Province, China. Methods:Using the genotyping technique of matrix-assisted laser desorption-ionization time-of-flight mass spectrometry, we analyzed the polymorphisms of an SNP (chr6_31697494) in gene PRRC2A in 214 breast cancer patients and 212 healthy controls admitted to the Huaian Maternal and Child Health Care Hospital. The genotype frequencies were analyzed using a Chi-square test between the case and control groups. Unconditional lo-gistic regression analysis for calculating the odds ratio (OR) and 95%confidence interval (95%CI) was conducted by analyzing the cor-relation between the susceptibility to breast cancer and genotypes. Additional analysis was then performed based on the immunohisto-chemical results of the estrogen receptor (ER) and progesterone receptor (PR). Results:The genotype frequencies for chr6_31697494 between the case and control groups were not significantly different (P>0.05). Further analysis indicated that the genotype frequencies of the site were significantly different in the ER (+/-) groups or the PR (+/-) groups (P<0.05). Heterozygous genotype (chr6_31697494, CT) was related to the breast cancers with ER (+) and PR (+) (OR=0.40, 95%CI:0.33-0.47;OR=0.49, 95%CI:0.43-0.57, respectively). Conclusion:No significant difference was found between the polymorphism of chr6_31697494 in the PRRC2A gene and the suscepti-bility to breast cancer among Han women in Jiangsu Province. The heterozygous genotypes were associated with breast cancer tissues with ER (+) and PR (+).

OBJECTIVETo investigate the adverse effects of acupuncture on the prognosis, and effectiveness of acupuncture combined with far infrared ray in the patient of acute Bell's facial paralysis within 48 h.

METHODSClinically randomized controlled trial was used, and the patients were divided into 3 groups: group A (early acupuncture group), group B (acupuncture combined with far infrared ray) and group C (acupuncture after 7 days). The facial nerve functional classification at the attack, 7 days after the attack and after treatment, the clinically cured rate of following-up of 6 months, and the average cured time, the cured time of complete facial paralysis were observed in the 3 groups.

RESULTSThere were no significant differences among the 3 groups in the facial nerve functional classification 7 days after the attack, the clinically cured rate of following-up of 6 months and the average cured time (P > 0.05), but the cured time of complete facial paralysis in the group A and the group B were shorter than that in the group C (P < 0.05).

CONCLUSIONThe patient of acute Bell's facial paralysis can be treated with acupuncture and moxibustion, and traditional moxibustion can be replaced by far infrared way.

Acupuncture Therapy ; Bell Palsy ; therapy ; Facial Paralysis ; therapy ; Humans ; Moxibustion ; Treatment Outcome