Objective To explore the relationship between X - linked spondyloepiphyseal dysplasia tarda (SEDL) gene escaping X chromosome inactivation( XCI) and SEDL phenotype. Methods RT - PCR was performed on total RNA which was isolated from blood samples of patients, female carriers and controls. Patients and female carriers were selected from the pedigree with SEDL caused by the mutation (IVS2 - 2A→C) of the gene. cDNA was analyzed by polyacrylamide gelelectrophoresis(PAGE). Results PAGE data indicateed that female carriers expressed both normal and mutant SEDL mRNA,meaning the SEDL gene escaping XCI. Family investigation showed carrier females in the SEDL pedigree presented no symptoms. Conclusions The SEDL gene escaping X chromosome in-activation is firstly identified from human body. This may explain that carrier females present no symptoms.

Objective To explore the effect of Melatonin(MT) on CD4+CD25+ regulatory T cell (CD4+CD25+Tr)and airway inflammation in asthmatic rat.Methods Thirty-two SD rats were randomly divided into 4 groups,8 rats in each group.Asthmatic group:rats were immunized on day 1 and 7 by intraperitoneal inject of mixture of ovalbumin(OVA) and aluminumhydroxide.From day 14,the animals were allenged with aerosolized OVA for 20 min per day for 7 consecutive days.MT group:OVA-sensitized rats were injected intraperitoneally with 0.1 mg/kg MT 30 min before each OVA challenge.Dexamethasone group:OVA-sensitized rats were injected intraperitoneally with 0.5 mg/kg Dexamethasone 30 min before each OVA challenge.Control group:OVA for inhalation and MT for intraperitoneal injection was replaced with saline.After the last challenge,peripheral blood was stained to count the percentage of eosinophil(EOS).Then the rats were lavaged and total leukocytes counts in bronchoalveolar lavage fluid(BALF) were performed after staining with Wright-Giemsa staining.The EOS counts around the airway was counted after the histological section of lung staining with hematoxylin and eosin staining.The serum level of immunoglobulin E(IgE) was detected by immunoenhancement.The change of CD4+CD25+Tr was assessed with flow cytometry.SPSS 10.0 software was applied to analyze data. Results In asthmatic rats,the CD4+CD25+ Tr/ CD4+T cells ratio had significant negative relationship with the EOS counts around the airway and the total leukocytes counts in BALF (r=-0.73 P0.05).There was a significant decrease in the percentage of the eosinophils in peripheral blood,the eosinophil counts around the airway,the total leukocytes counts in BALF and the serum level of IgE in MT group compared with asthmatic group (Pa

Antibodies ; analysis ; Biopsy ; Child ; Child, Preschool ; Disease Progression ; Drug Resistance ; Female ; Fluorescent Antibody Technique ; Humans ; Immunoglobulin A ; analysis ; Kidney Glomerulus ; immunology ; pathology ; Male ; Nephrosis ; drug therapy ; pathology ; Prognosis ; Steroids ; pharmacology ; therapeutic use

Objective: The aim of this study was to evaluate the effect of chemotherapy combined with radiotherapy for the treatment of the patients with advanced nasopharyngeal carcinoma. Methods: Between June,1992 and January,1995, 110 patients with Stage Ⅲ , Ⅳ a nasopharyngeal carcinoma ( 92 stage system) at random received one course of chemotherapy [cisplatin 20 mg· (m2· d)-1 iv on days 1-5 and 5-fluorouracil 500 mg· (m2· d)-1 iv on days 1-5.] before radiotherapy (which started 3 days after the first cycle of chemotherapy ) and three to five cycles of postradiotherapy chemotherapy (chemotherapy/radiotherapy: including 55 patients) or radiotherapy alone (radiotherapy group:including 55 patients). The methods and time/dose schedule of radiotherapy were similar in the two groups. Results: The 5-year survival rate was 65.5％ in the chemotherapy/radiotherapy as compared with 34.5％ in the radiotherapy group (P=0.0012). The primary lesion control rates were 69.1％ (chemotherapy/radiotherapy) and 43.6％ (radiotherapy group), respectively(P=0.0071). The cervical lymph node control rates were 67.3％ (chemotherapy/radiotherapy) and 45.4％ (radiotherapy group), respectively (P=0.021). The distant metastatic rate was 21.8％ (chemotherapy/radiotherapy) versus 41.8％ (radiotherapy group), respectively (P=0.0243). There was no significant difference in the incidence and severity of acute mucositis between the two groups during radiotherapy. Conclusion:This prospective study has demonstrated that alternating cisplatin/5-fluorouracil chemotherapy and early administration of locoregional radiotherapy can improve the survival and local disease control , and delay the distant metastasis in the patients with advanced nasopharyngeal carcinoma.

Adult ; Female ; Hip Dislocation ; physiopathology ; therapy ; Hip Joint ; physiopathology ; Humans ; Male ; Middle Aged ; Musculoskeletal Manipulations ; Treatment Outcome ; Young Adult

The clinical data of one case of infantile myofibromatosis of left mandibular angle were analyzed, and the clinicopathological characteristics, imaging diagnosis, treatment and prognosis of infantile myofibromatosis were discussed.
Humans ; Myofibromatosis ; congenital

High-density lipoprotein ( HDL) is negatively related to the risk of cardiovascular diseases such as atherosclerosis .Recent studies have shown that HDL activates a variety of target cells , such as vascular endothelial cells and macrophages , and activates the related cell signaling pathway to exert an anti-atherosclerosis role .HDL is a complex substance which composes of multiple particles .The changes of many factors affect the characteristics and functions of HDL, and then affect the activation of endothelial nitric oxide synthase ( eNOS) .This paper summarizes the recent correla-tion studies, and expounds the related factors that affect the HDL-eNOS signaling pathway .

Objective The present study demonstrates a novel,simple and cost-effective method for detecting known SNP genotyping by using ShineRoar probes.Methods The SNP of target genes detected by using the ShineRoar probes and melting curve analysis.Tumor necrosis factor receptor Ⅱ (TNFR Ⅱ) and apolipoprotein M (apoM) had been employed as target genes to describe the method in details.The PCR products of TNFR Ⅱ and apoM were collected and sequenced.Results The melting temperatures (TM) were significantly different between mutated genotypes and wild-type genotype.A biallelic SNP marker (T/ G) at position 196 in exon 6 of TNFR Ⅱ gene showed two melting valleys with the appropriate TMs at (52.84?0.75)℃ and (58.38?0.61)℃,respectively.For apoM T-778C,TMs of homozygous T genotype and C genotype were (42.55?0.73)℃ and (49.19?0.57)℃,respectively.Moreover,this genotyping method was validated by the DNA sequence analyses (Kappa=1,P=0.000).Conclusion It is concluded that this novel method is simple and economical and it is suitable for a large-scale genotyping screening.

Objective:To improve the genetic stability of HBV gene in transgenic mice.Methods:HBV transgenic mice were bred by backcross and double cross.The HBV gene expression and replication were studied with real-time PCR,ELISA and chemiluminescence.Results:The HBV transgenic mice have stably bred to 23rd generation.The serum HBsAg level is 4122.31?2044.74IU/ml;The rate of HBV transgenic mice whose serum HBV DNA reach 104~106copies/ml was 93.93%.The HBV replication and expression were improved markedly.There is no difference between male and female mice about serum HBsAg level.Conclusion:After breeding the HBV gene was expressed stably with high-level in transgenic mice.

OBJECTIVE: To evaluate the therapeutic effects of intraarticular injection of ligustrazine on knee osteoarthritis (OA). METHODS: Seventy-one cases of knee osteoarthritis (82 knees) were randomly divided into ligustrazine (LI) group and sodium hyaluronate (SH) group. The patients were intraarticularly injected ligustrazine or sodium hyaluronate once a week for 5 consecutive weeks, and were followed-up for 3 months. Lequesneos protocol for the evaluation of OA severity and activity was used. The therapeutic effects and changes of Lequesneos index were observed after the treatment. RESULTS: There was significant decrease in Lequesneos index in SH group after the treatment (P<0.01), but not in LI group (P>0.05). Three weeks later, there was significant decrease in Lequesneos index in both groups after the treatment (P<0.01), with no significant difference between SH and LI group (P>0.05). After the 5-week treatment, the efficacy rate of the LI group was 82.1%, and that of the SH group was 87.2%. No serious toxic or side effect was observed during the treatment and the follow-up. CONCLUSION Intraarticular injection of ligustrazine has a therapeutic effect on knee OA. No adverse effect is observed, but it needs long time to take effect.
Anti-Inflammatory Agents, Non-Steroidal ; administration & dosage ; Female ; Follow-Up Studies ; Humans ; Injections, Intra-Articular ; Male ; Middle Aged ; Osteoarthritis, Knee ; drug therapy ; Pyrazines ; administration & dosage