Objective To determine the mutations in exon 5 of the phenylalanine hydroxylase(PAH)gene in phenylketonuria(PKU)patients from Xinjiang.Methods The mutations in exon 5 and flanking sequence of PAH gene were detected by SSCP analysis and DNA sequencing.Results Four different mutations,including missence mutation F161S,splice mutation IVS4-1G→A,missence mutation R158Q and nonsence mutation Y166X were identified in 74 chromosomes from 37 PKU patients,with relative frequencies of 4.1%,1.4%,1.4% and 1.4%,respectively.The frequency of mutant alleles in exon 5 is 8.1%.Considering the previous reports and the present study,R158Q was the most prevalent form in PKU patients from European and Latin American countries,IVS4-1G→A was a common mutation inoriental PKU populations.However,F161S and Y166X are two characteristic forms in Chinese.Conclusion Characteristics of PAH gene mutations and their distribution were showed in Chinese PKU population from Xinjiang,where is a hinterland located between China and Europe.The results give a clue that Xinjiang might be an ideal genetic resource repertoire for studying diversity of gene mutations,heterogeneity of PAH gene,human genesis and migration.

Objective To investigate the point mutation features of exon 11 and 12 in phenylalanine hydroxylase(PAH)gene of the patients with phenylketonuria(PKU)in Xinjiang.Methods PCR/SSCP and gene sequencing were used in present study.Results Five mutations were identified from 74 chromosomes of 37 patients.Among them two mutations were detected from exon 11 including nonsense mutation Y356X and splice site mutation V399V,and three mutations were detected from exon 12 including R413P,R408W and A434D,all which were missense mutation.The frequency of the five mutations were 5.4%,5.4%,4.1%,1.4%,1.4% and 1.4%,respectively.The allelomorphic frequency of exon 11 and 12 were 10.8% and 6.8%,respectively.Among the five mutations,R413P is common in Japan,Y356X and V399V are centered in north China,and R408W is the most often mutation in Europe and America.Conclusion Xinjiang Uygur Autonomous Region is situated on northwest China,contiguous to other countries of central Asia,and is such an area differed from other areas of China,and distributed special PAH gene mutation in PKU patients.

OBJECTIVE:To compare the effects of Qili qiangxin capsules and Compound danshen drop pills on related indexes of acute myocardial infarction(AMI)patients without reflow after percutaneous coronary intervention(PCI). METHODS:A total of 90 AMI patients without reflow after PCI were randomly divided into Compound danshen drop pills group (45 cases) and Qili qiangxin capsules group(45 case). Both groups were given Aspirin chewable tablets 300 mg and Clopidogrel sulfate tablets 300 mg before PCI. After surgery,both groups were given Aspirin chewable tablets 100 mg,once a day+simvastatin chewable tablets 10 mg,once a day. Based on it,Compound danshen drop pills group was given Compound danshen drop pills,10 pills,3 times a day. Qili qiangxin capsules group was given Qili qiangxin capsules,4 capsules,3 times a day. Both groups were treated for consec-utive 6 months. The blood flow classification of TIMI,LEVF,β1-AR,β2-AR,α1-AR,bleeding and the occurrence of major cardio-vascular events were observed in 2 groups before and after treatment. The occurrence of ADR was recorded. RESULTS:Bafore treatment,there was no statistical significance in the blood flow classification of TIMI,the levels of β1-AR,β2-AR and α1-AR be-tween 2 groups(P>0.05). After treatment,the case number of 0-2 degree blood flow classification of TIMI in 2 groups were signif-icantly lower than before treatment while the case number of 3 degree were significantly higer than before treatment;the levels ofβ1-AR,β2-AR and α1-AR were significantly lower than before treatment,while LEVF was significantly higher than before treatment;LEVF of Qili qiangxin capsules group was significantly higher than that of Compound danshen drop pills group,with statistical signifi-cance (P<0.05). There was statistical significance in the incidence of bleeding and major cardiovascular events between 2 groups (P>0.05). No obvious ADR was found in 2 groups during treatment. CONCLUSIONS:Qili qiangxin capsules is similar to Com-pound danshen drop pills in improving no-reflow efficacy and safety of AMI patients after PCI,but it is better than Compound dan-shen drop pill in improving cardiac function.

Objective To investigate the mechanism of the permeability of intestinal mucosa in the pathogenesis of irritable bowel syndrome (IBS) and the interventional effects of Clostridium butyricum combined with glutamine.Methods According to random number method,fifty BALB/c mice were divided into control group,experimental control group,glutamine group,Clostridium butyricum group and combination group.IBS mice model was established by water-avoidance stress (WAS) experiment.The defecating time of mice and fecal water content were detected by dyed stool after mice gavaged with methylcellulose (1.5％).The pathological injury of intestine was assessed by hematoxylin and eosin staining.The visceral sensitivity was evaluated by colorectal distention test (CRD).The changes of the permeability of intestine was evaluated by detecting the changes of serum D-lactic acid (D-LA),level of diamine oxidase (DAO),expressions of intestinal epithelial cells (IEC) cell tight junction protein (TJ) (occludin-1,claudin-1,zonula occludens-1 (ZOL-1)) at protein level.The interventional effects of Clostridium butyricum combined with glutamine were evaluated.t test was performed for comparison between groups,and analysis of variance was used for comparison among multi-groups.Results Compared with the control group,the defecating time of experimental control group was significantly shorten ((100.40±14.80) min vs (75.88±12.20) min and water content of fecal significantly increased ((54.76±9.98)％ vs (74.95±7.15)％,t =3.692 and 4.023; P=0.002 and 0.002).The lowest threshold of visceral sensitivity significantly decreased ((40.87 ± 4.82) mmHg (1 mmHg=0.133 kPa) vs (27.80±3.18) mmHg; t=8.761,P＜0.01),while the mucosal pathological injury score significantly increased (0.50±0.15 vs2.60±0.97; t＝6.034,P＜0.01).The level of D-LA ((1 476±246.8) ng/L vs (913.6±90.1) ng/L)) and DAO ((3 391.0±256.9) vs (5 096.0±725.2) ng/L) significantly increased (t=40.920 and 29.810; both P＜0.05),and the expression of tight junction protein ZOL-1 (0.165±0.005 vs0.119±0.003),occludin-1 (0.104±0.016 vs 0.022±0.006) significantly decreased (t=19.830 and 19.830; both P＜0.01).Compared with the experimental control group,after intragastric intervention the defecating time of glutamine group,Clostridium butyricum group and combination group increased ((90.50±3.78),(97.56±8.79) and (99.89±11.90) min and water content of fecal decreased ((69.33±6.71)％,(58.07±8.97)％ and (56.74±8.12)％) and the differences were statistically significant (F=10.020 and 8.740; both P＜0.01).The results of Clostridium butyricum group and combination group were good (F=2.481 and 4.874; both P＜0.05).And the lowest threshold of visceral sensitivity significantly increased ((31.80±2.69),(36.04±5.06) and (38.93±3.30) mmHg; F=2.420,P＜0.05),the result of combination group was the best (F=3.550,P＜0.01).Jejunal mucosal injury was significantly reduced (2.00 ± 0.94,1.30 ± 0.68 and 1.30±0.48; F＝11.350,P＜0.01).After intragastric intervention,serum levels of D-LA ((1 370.0± 78.9),(1 066.0±155.5) and (1 039.0±129.0) ng/L) and DAO ((4 808.0±477.4),(3 713.0± 595.0) and (3 725.0±615.9) ng/L) of glutamine group,Clostridium butyricum group and combination group significantly decreased (F＝37.480 and 27.670; both P＜0.01).The level of ZOL-1(0.126± 0.014,0.125±0.006,0.138±0.004) and occludin 1 (0.037±0.013,0.073±0.028,0.078±0.027) of glutamine group,Clostridium butyricum group and combination group significantly increased,and the differences were statistically significant (F=5.867 and 10.630; both P＜0.05).The change of ZOL-1 of combination group was more than that of Clostridium butyricum group (t =5.457,P ＜ 0.05).Conclusions WAS experiment can induce visceral hypersensitivity,increase the permeability of intestine and reduce the function of intestinal epithelial barrier.Clostridium butyricum and glutamine are effective in the recovery of visceral hypersensitivity and the permeability of mucosal epithelia cells.

Objective:To investigate the efficacy and safety of plasma exchange (PE) combined with plasma perfusion (PP) in treatment of liver failure and the influence on inflammatory factors and liver function.Methods:98 patients with liver failure in our hospital from February 2014 to February 2016 were selected as the subjectswere,and they were randomly divided into experimental group and control group,and each group was 49 cases.The experimental group was treated with PE combined with PP,and the control group was received PE alone.The liver function before and after treatment was detected by automatic biochemical analyzer.The serum levels of C-reactive protein (CRP),tumor necrosis factor-α (TNF-α) and interleukin-6 (IL-6) were determined by enzyme-linked immunosorbent assay (ELISA).The total effective rate,the incidence of side effects,the levels of liver function and inflammatory factors before and after treatment were compared between the two groups.Results:The clinical effective rate in the experimental group (91.84％) was significantly higher than that in the control group (73.47％),the difference was statistically significant (P＜0.05).The incidence of adverse reactions in the experimental group (10.20％) was significantly lower than that in the control group (38.78％),the difference was statistically significant (P＜0.05).The levels of serum alanine aminotransferase (ALT),total bilirubin (TBIL) and blood ammonia (NH3) were significantly decreased in both groups after treatment (all P＜0.05).Albumin (ALB) and thrombin activity (PTA) were significantly increased in both groups after treatment (both P＜0.05).After treatment,the serum levels of ALT,TBIL and NH3 in the experimental group were lower than those in the control group (all P＜0.05),the levels of ALB and PTA were higher than those of the control group,the difference was statistically significant (both P＜0.05).After treatment,the serum levels ofCRP,TNF-α and IL-6 were lower than those before treatment,and the serum levels of CRP,TNF-α and IL-6 in the experimental group were lower than those in the control group (all P＜0.05).Conclusion:The combination of plasma exchange and plasma perfusion has a good effect in the treatment of liver failure,and the incidence of adverse reactions is low.It can effectively remove inflammatory factors,improve liver function and improve the quality of life of patients.

This study was aimed to collect relevant provisions of bulging disease medical records in the Ming and Qing dynasties to excavate the syndrome differentiation, drug law and medication frequency analysis. A database was established to analyze relevant provisions. The results showed that the syndromes of liver stagnation and spleen deficiency, dampness-heat accumulation, spleen-yang deficiency are the most common type. The mainly used drugs are from the category to eliminate dampness and water, and to tonify the deficiency. The top three used drugs are poria, atractylodes, and dried citrus peel. It was concluded that medications used in the Ming and Qing dynasties were mainly targeted to the disordered zangfu-organ, which was mainly about the spleen and the stomach. The syn-drome differentiation is the mixture of deficiency and excess. And deficiency is the main part. The medication should combine tonification and reducing. And tonification should be paid attention to. The syndrome differentiation and treatment should be coordinated and the primary and secondary aspect should be identified. These rules provide ref-erence effect for the clinical practice and scientific research of bulging disease treatment.

Objective To evaluate the clinical value of multiple tumor marker protein chip in diagno-sis and detection of postoperative recurrence of breast cancer.Methods The serum levels of 12 tumor makers (CA199,NSE,CEA, CA2A2,Ferritin,β-HCG,AFP,f-PSA,PSA,CA125,CA153 and HGH)were measured in 70 preoperative breast cancer patients, 32 recurrence patients,52 non-recurrence patients and 76 normal con-trois.Results ①The breast cancer group had significantly higher positive rate than that of the controls (P<0.05).The positive rates and serum levels of CA199,CEA,CA242,Ferritin,CAI25 and CA153 in breast cancer patients had those of control significant differences compared with groups (P<0.05).②The recurrence group had significantly higher positive rate than that of non-recurrence group (P<0.05).The positive rates and se-rum levels of CA199, CEA, Ferritin, CA125 and CA153 in the recurrence patients had significant differences compared with those of non-recurrence patients(P<0.05).③The positive rate of recurrence group had signif-icant difference compared with that of breast cancer group(P<0.05).Moreover,The positive rate and serum level of Ferritin in the recurrence patients had significant difference compared with that of breast cancer pa-tients.Conclusion The multiple tumor marker protein chip detective system has valid value of clinical appli-cation in the diagnosis and detection of postoperative recurrence of breast cancer.The combination detection of CA199, CEA, Ferritin ,CA125 and CA153 may be the economical and effective in the diagnosis and detection of postoperative recurrence of breast cancer.

BACKGROUND: Phenylketonuria is caused by gene mutation of phenylalanine hydroxylasel (PAH), which is mainly induced by permutation, short segments and insertion of base.OBJECTIVE: To evaluate the gene mutation of phenylalanine hydroxylasel in phenylketonuria in Hui nationality.DESIGN: Open study.SETTING: Urumqi General Hospital of Lanzhou Military Area Command of Chinese PLA; Capital Pediatrics Institute.PARTICIPANTS: A boy of Hui nationality in China and aged 3.1 years was selected in this study. The boy had intellect hysteresis in his one year and received medical treatment in his three years, while he was diagnosed as cerebral paralysis. After repeatedly inefficient treatment, he was hospitalized in our hospital on December 13, 2004. Iron sesquichloride in urine was strongly positive and concentration of serum phenylalanine was 1 680 μmol/L; therefore, he was diagnosed as the typical phenylketonuria.METHODS: 5 mL venous blood was selected from the boy and his parents, respectively, and anticoagulated with EDTA-Na2. DNA in gene group was extracted by using typical phenol/chloroform method. In addition, polymerase chain reaction (PCR) primer sequence of extron 7, 6, 11, 3, 12 and 5 of PAH gene was designed based on references. And then, PCR products were detected with 2% agarose gel electrophoresis. 5 μL PCR products were mixed with the same volume of degenerated buffer solution, degenerated at 97 ℃ for 5 minutes, put in iced bath and performed with 80 g/Lnon-degenerated polyacrylamide gel electrophoresis. After that, the products were dealt with sliver staining routinely, and single strand DNA banding patterns were analyzed and recorded. ABI377 automatic sequenator (PE Company) was used to detect PCR sequence and purify PCR product in Shanghai Boya Biotechnology Company.MAIN OUTCOME MEASURES: Iron sesquichloride in urine, concentration of serum phenylalanine and mutant gene types of phenylalanine hydroxylase.RESULTS: Extron 7, 6, 11, 3, 12 and 5 of PAH gene were analyzed in the boy and his parents. The results demonstrated that SSCP electrophoresis in extron 6 was different from that in the normal control group. Site of electrophoresis strip of his father was coincident with that of his mother, but different from that of the boy. Sequencing results indicated that point mutation (cytosine replaced by thymine), which was a R176X mutant heterozygote, occurred at the 526th site of cDNA of phenylalanine hydroxylase gene in his parents; however, two chromosomes of the boy had mutation at the same site, which was R176X mutant homozygote.CONCLUSION: Mutation of R176X homozygote of phenylketonurea is firstly reported in Hui nationality in China.

Objective To investigate the condition of exercise, medicine compliance and the rehabilitation of patients with arteriosclerosis obliterans (ASO) in lower extremity after the surgery, and also to study the influence of self-efficiency and social support to their rehabilitation. Methods The questionnaire survey was performed in 102 patients who had surgical or interventional therapy of arteriosclerosis obliterans in the lower extremity in our hospital, investigated the general information of the patients, their knowledge of postoperative rehabilitation, medicine compliance, exercise condition, general self-efficiency and social support. Results The postoperative time for the patients with arteriosclerosis obliterans was 2 to 22months, the knowledge rate for postoperative rehabilitation was 7.8%-46.1%.The Morisky score for the patients of taking medicine for the treatment of vascular disease was 2.0,and there was only 6 patients(5.9%)with good medicine compliance. There were 22 patients(21.0%) had completed the ambulation training according to the guidelines, and there were 25 patients(24.5%) had completed the Buerger training. The self-efficiency score of the patients was 2.78 ± 0.76, and the gross score of social support was 32.38 ± 7.89. Spearman correlation analysis shows that the Morisky score for the patients of taking medicine for the treatment of vascular disease was in positive correlation with self-efficiency (r=0.289, P=0.003), but in negative correlation with social support (r=–0.286, P=0.006). Conclusions Most of the patients with arteriosclerosis obliterans have poor medicine compliance, and do not do exercise as required by the guidelines. Patients with high self-efficiency demonstrates medicine noncompliance, however the enhancement of social support will help patients improve their medicine compliance.

Objective To investigate the application of multiple dilators for excessive expansion of scalp with hair covering and integrated use of expanded flap to repair cicatricial alopecia in a large area.Methods stage Ⅰ surgery was performed as follows:multiple dilators were chosed and embedded below the galea aponeurotica of the scalp with hair covering according to the bald hair shape,size of the alopecia area.Excessive expansion was conducted for 3 to 6 months to get the extra hair scalp.Stage Ⅱ surgery was as follows:Dilators were removed and scar areas were resected,followed by combined use of sliding advancement flap,rotation flap and translocation flap to repair scalp alopecia.Resluts The postoperative effect of all patients was ideal with satisfied appearance.Conclusions Multiple dilator excessive expansion may obtain a large number of additional expansion scalp,combined by reasonable use of skin flap transfer technology,which can be used to repair the large scarring alopecia and get a good clinical effect.