Objective To analyze the mutations of IDS gene in a mucopolysaccharidosis type Ⅱ (MPS Ⅱ) family and to make prenatal diagnosis on the high-risk fetus which has been pregnant for eleven weeks.Methods IDS gene was analyzed by bidirectional DNA sequencing in 2 patients and their mother,and 5 unaffected individuals.Prenatal diagnosis for the high-risk fetus was performed by chorionic villus sampling after the genotypes was identified.Results The mutation c.344delA (N115fsX15) was detected in the two patients,and the mother of patients carried the heterozygous c.344delA (N115fsX15) mutation.None of the mutant was detected in the 5 unaffected subjects.The fetus carried c.344delA (N115fsX15) heterozygous mutation and was a carrier.Conclusion The deletion mutation c.344delA (N115fsX15) is causative to the pedigree of MPS Ⅱ,and prenatal diagnosis is the efficient method to avoid defect birth.

Objective To investigate the effect of noninvasive ventilator therapy on serum C-reactive protein (CRP), endothelin-1 (ET-1) and tumor necrosis factor-α (TNF-α) levels in patients with obstructive sleep apnea hypopnea syndrome (OSAHS) and its clinical significance. Methods One hundred cases of moder-ate and severe OSAHS patients were selected by the method of parallel opening. All of the patients were given health education requirement , quitting smoking and wine , low fat diet and exercise to lose weight and other con-ventional treatment. The patients were randomly divided into the treatment group of 42 cases with noninvasive ventilator treatment , 44 cases treated with conventional treatment , to observe the changes of serum CRP , ET-1 and TNF-α levels and PSG parameters after 12 weeks in two groups. Results Apnea hypopnea index (AHI), oxygen desaturation index (ODI), the lowest oxygen saturation (LSpO2), and the average oxygen saturation MSpO2 in OSAHS patients were significantly improved after treatment (P < 0.01), but the degree of improvement in the two groups after treatment was significantly higher than the control group (P < 0.01). Plasma CRP, ET-1 and TNF-α levels in the two groups after treatment were lower than before treatment (P < 0.05 or P < 0.01), but the treatment group was significantly higher than that of the control group ( P < 0 . 05 or P < 0 . 01 ) . Conclusion Noninvasive ventilator therapy in improving the OSAHS monitoring data of patients with PSG can effectively reduce the serum CRP, TNF-α, ET-1 level, reduce the body′s inflammatory reaction.

The effects of mangiferin on uric acid excretion, kidney function and related renal transporters were investigated in hyperuricemic mice induced by potassium oxonate. Mice were divided into normal control group, and 5 hyperuricemic groups with model control, 50, 100, and 200 mg x kg(-1) mangiferin, and 5 mg x kg(-1) allopurinol. Mice were administered by gavage once daily with 250 mg x kg(-1) potassium oxonate for seven consecutive days to create the model. And 3 doses of mangiferin were orally initiated on the day 1 h after potassium oxonate was given, separately. Serum uric acid, creatinine and urea nitrogon levels, as well as urinary uric acid creatinine levels were measured. Mouse uromodulin (mUMOD) levels in serum, urine and kidney were determined by ELISA method. The mRNA and protein levels of related renal transporters were assayed by RT-PCR and Western blotting methods, respectively. Compared to model group, mangiferin significantly reduced serum uric acid, creatinine and urea nitrogon levels, increased 24 h uric acid and creatinine excretion, and fractional excretion of uric acid in hyperuricemic mice, exhibiting uric acid excretion enhancement and kidney function improvement. Mangiferin was found to down-regulate mRNA and protein levels of urate transporter 1 (mURAT1) and glucose transporter 9 (mGLUT9), as well as up-regulate organic anion transporter 1 (mOAT1) in the kidney of hyperuricemic mice. These findings suggested that mangiferin might enhance uric acid excretion and in turn reduce serum uric acid level through the decrease of uric acid reabsorption and the increase of uric acid secretion in hyperuricemic mice. Moreover, mangiferin remarkably up-regulated expression levels of renal organic cation and carnitine transporters (mOCT1, mOCT2, mOCTN1 and mOCTN2), increased urine mUMOD levels, as well as decreased serum and kidney mUMOD levels in hyperuricemic mice, which might be involved in mangiferin-mediated renal protective action.

Objective To explore the prognosis of mild hypothermia treatment in cases of severe traumatic brain injuries(sTBI),improve the knowledge of mild hypothermia treatment on brain injuries.Methods Cases were divided into 2 groups:mild hypothermia treatment group and control group.Mild hypothermia was applied to the cases of sTBI in mild hypothermia group.The prognosis was divided into five grades such as good recovery(GR),moderate disability(MD),severe disability(SD),persisted vegetative state(PVS)and death(D).Results In mild hypothermia group,there were 20 GR cases,5 MD,2 SD and 3 D cases,while in control group,there were 14 GR cases,9 MD,4 SD and 3 D cases.Conclusion Mild hypothermia treatment can improve the prognosis of sTBI.

Objective To investigate the risk factors and treatment efficiency for lung cancer patients with venous thromboembolism (VTE). Methods Total 282 cases of lung cancer patients with VTE were enrolled into two groups , including the VTE group and the non-VTE group , for comparation analysis based on a series of clinical data. Results The occupation rate of adenocarcinoma and Ⅳ period were 65.28% and 87.50% in VTE group, respectively, higher than those of 51.43% and 75.71% in the non-VTE group. The increased rate of blood viscosity and d-dimer respectively were 65.28% and 70.83%, higher than those of 51.43% and 56.67% in the non-VTE group, with significant differences (P < 0.05, respectively). Result of logistic regression analysis showed that tumor stage , d-dimer levels , smoking , age , and blood viscosity levels were highly correlated with venous thrombosis in patients with lung cancer, and the OR value among them was 3.802, 2.339, 5.814, 3.875 and 6.404, respectively, with significant differencees (P < 0.05, respectively). Conclusions Lung adenocarcinoma with stage Ⅳ, smoking , age and increase of blood viscosity and d-dimer were the important risk factors for VTE in patients with lung cancer chemotherapy. Timely assessment of risk factors and early anticoagulation therapy in lung cancer patients with venous thromboembolism associated with VTE can improve the treatment efficacy and reduce the complications.

BACKGROUND: Quantitative pharmaco-electroencephalography (QPEEG) can reflect cerebral cortical function, which can be certainly affected by general anesthetics. Anesthesia depth has good correlation with the anesthetic dosage, so if we can find out the areas of brain and band of QPEEG which is relative to the anesthetic dosage, the band may be taken as the index to reflect the depth of anesthesia. OBJECTIVE: To observe the effects of propofol on the alpha2-band (α2- band) of QPEEG in rabbits. DESIGN: A randomized control animal experiment. SETTING: Jiangsu Provincial Key Laboratory of Anesthesiology, Xuzhou Medical College. MATERIALS: The experiment was carried out in the animal laboratory of Xuzhou Medical College from October 2004 to August 2005. Thirtysix healthy adult rabbits were randomly divided into propofol 2.5, 5 and 10 mg/kg groups with 12 rabbits in each, including 6 were used to observe the change of percentage of each band power of QPEEG, and the other 6 were used to observe the latency and duration for the disappearance of righting reflex in the rabbits. METHODS: The experiment was performed between 14:00-17:00 every day. Rabbits in the three groups were treated with intravenous injection of propofol of 2.5, 5 and 10 mg/kg respectively within 30 seconds. ① The conscious rabbits were fixed onto the platform in a prone osition, and the QPEEG was recorded with the method of power spectrum analysis before administration and at 20, 30, 40, 50, 60, 70, 80, 90, 100 and 110 s and 2, 5, 10, 15, 20 and 30 minutes after administration respectively. The sampling time for each time point was 5 s. ② The latency and duration for the disappearance of righting reflex in the rabbits were recorded. RESULTS: ll the 36 rabbits were involved in the analysis of esults. ① After the intravenous injection of propofol, the righting reflexes all disappeared within 1 minute. The greater the dosage, the shorter the latency and the longer the duration r=0.79, P ＜ 0.01). ② Compared with before administration, propofol of 2.5 mg/kg had no obvious influence on the percentage of α2-band power (P ＞ 0.05); The percentages of α2-band power in the brain areas were increased after administration in the propofol 5 mg/kg group (P ＜ 0.05); Except that there were no significant differences in the left and right parietal regions between the propofol 10 mg/kg group and the propofol 5 mg/kg group, the percentages of α2-band power in the other brain areas in the propofol 10 mg/kg group were decreased as compared with those before administration and those in the other two groups (P ＜ 0.05), and the changes above were more obvious in the frontal and temporal regions.CONCLUSION: The influence of propofol on the percentage of α2-band power of QPEEG is biphasic, it is suggested that α2-band would be an index to reflect the anesthesia depth of propofol.

Objective To analyze the variations of PTPS gene in patients with suspected 6-pyruvoyl-tetra hydropterin synthase deficiency (PTPSD) and to make prenatal diagnosis in high-risk families. Methods Chemiluminescence was used for phenylalanine detection in blood or dried blood spots.Patients with phenylalanine concentration over 120μmol/L were detected by urine pterin analysis, and the activity of dihydropteridine reductase (DHPR) was detected. tetrahydrobiopterin loading tests were performed in suspected patients with abnormal urinary pterin profiles. PTPS gene variation analysis was performed by direct Sanger sequencing based on PCR amplification. Prenatal diagnosis in 7 high-risk families was performed by chorionic villus sampling when the genotype was identified. Results In 656 patients with hyperphenylalanine, 22 cases were diagnosed as PTPSD clinically. 16 variations were detected in the 22 PTPSD cases. The 5 variations, p.Lys77Arg, p.Ile84Phe, c.315-2A>G, c.244-2A>T, c.187-1G>T, were identified as novel variations. Two fetuses carried the same mutation with the proband and therefore were thought to be PTPSD fetuses. Three fetuses carried only one mutant allele and thus were thought to be PTPSD carriers.

Objective To identify the mutation of trafficking protein particle complex 2 (TRAPPC2) gene in a large Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda by the PCR-based capillary electrophoresis methods.Methods The blood samples were collected from a large Chinese pedigree of three generations with six affected persons with X-SEDT.Four exons comprising the TRAPPC2 gene open reading frame as well as their exor/intron boundaries were analyzed by argrose electrophoresis and bidirectional direct sequencing of PCR products.Fluorescence labeled fragment analysis was performed by capillary electrophoresis.Results A 5-bp deletion mutation of TRAPPC2 gene in exon 5,c.262_266delGACAT (D88del; I89fX12),was identified in the proband and his unaffected mother(a heterozygote) in the Chinese family with X-SEDT,but no other sequence change occurring in exons 3,4 and 6 was detected.The old sister of proband was determined being carriers because she carries the deletion fragment allele of exon 5 PCR product and the young sister being normal individuals because she carries the wild allele of TRAPPC2 gene.Conclusions The mutation c.262_266delGACAT (D88del; I89fX12) of TRAPPC2 gene was firstly reported in Chinese people.The mutation of c.262_266delGACAT (D88del; I89fX12) in TRAPPC2 gene may be the pathologic cause of the patients in the X-SEDT pedigree.Fragment analysis combined with DNA sequencing by capillary electrophoresis method is effective laboratory test in the small deletion mutation analysis and carriers screening in X-SEDT family.

Objective To explore the experimental conditions of labeling rabbit bone marrow mesenchymal stem cells (Rb-MSCs) with 5,6-carboxyfluorescein diacetic succinimidyl ester (CFSE) and to investigate the impact on the biological characteristics of Rb-MSCs in vitro.Methods Rb-MSCs were separated and purified by whole bone marrow adherent culture and then were identified by morphology and surface markers.Rb-MSCs were labeled with CFSE and the labeling effect was measured by flow cytometer.The proliferation capacity of labeled cells was detected with CCK-8.The differentiation capacity of labeled cells was investigated by being induced to osteoblasts and lipoblasts.The capacity of labeled cells to secret vascular endothelial growth factor (VEGF) was detected by VEGF ELISA kits.Results The primary Rb-MSCs adhered in 48 h,being fusiform and colony-like growth.Subculture cells became fibroblast-like cells in order with uniform configuration.Most (above 98％) cultured cells expressed the surface markers CD29 and CD44 except for CD45.Compared with other labeling conditions,10μmol/L final concentration of CFSE and 10 min was the best one with a 100％ labeling rate and high fluorescence intensity.Compared with unlabeled cells,the ability of the labeled cells to proliferate and to secrete VEGF was not significantly decreased (P ＞ 0.05).Moreover,the labeled cells had osteogenic and adipogenic differentiation capacity.Conclusions It was a simple and efficient method to label Rb-MSCs with CFSE,especially in a short-term.The capacity of cell proliferation,differentiation,and secretion were not affected.

Objective To monitor the levels of radioactive contamination due to the Japanese Fukushima nuclear accident in Beijing,so as to provide scientific technical information for government to draw effective controlling strategy and processing mechanism.Methods The system of nuclear emergency nmonitoring was started,then the radioactive contamination levels of atmosphere,rain water,surface water and vegetables in Beijing were detected according to the relative survey regulations and technology criterions.Results During the period from 15 to 41 d after the accident,obvious radioactive contamination was found in the atmosphere of Beijing.The maximum radioactivity concentration of 131I ( 5.89 mBq/m3 ) was detected at 22 d after the accident.The radioactivity concentrations of 137Cs and 134Cs were surveyed forming their corresponding peaks at 20 d after the accident,but they were one magnitude lower than the peak value of 131I at least.In addition,the gross β radioactivity level in the water of Chao Bai-he river was verified to be in the range of 0.314 - 0.602 Bq/L. Conclusions The radioactive contamination due to Fukushima nuclear accident has not done visible harm to the public health in Beijing,but monitoring should be continued to observe the long-term effect of the accident.