This article reviews the present situation, progress, challenges, and the future developments for the screening and diagnosis of inherited metabolic disease (IMD) in both domestic and abroad in clinical practice, aiming to improve the screening and diagnosis system of IMD in China and to provide a reference for clinicians to increase the diagnosis and cure rate of treatable IMD, and promote the development of this field.

Objective To learn the incidence of the inherited metabolic diseases in Beijing. Methods Urine samples were analyzed by gas chromatography-mass spectrometry(GC-MS)for inherited metabolic diseases in high risky infants in Beijing . Results Urine samples from 411 high risky infants were analyzed by gas chromatography-mass spectrometry. 269 cases (65.5%) were detected to have metabolic abnormalities, including 19 cases (4.6%) diagnosed of inherited metabolic diseases in which there were 15 cases of methylmalonic academia and 1 case each of propionic academia, hyperphenylalaninemia, urea cycle abnormality and pyroglutamic aciduria. There were 22 suspected cases (5.4%) of inherited metabolic diseases including 13 cases of lactic acidosis, 5 cases of primary glycerol aciduria, 4 cases of fatty acid metabolic disorders including 1 case each of Citrin defects, tyrosinemia, galactosemia 3-methylcrotonoyl coenzyme A carboxylase deifciency and maple syrup urine disease. There were also 228 cases (55.5%) of metabolic abnormalities, such as increasing urine levels of lactic acid, sucrose,lactose, galactose, N-acetyl tyrosine, succinic acid, dicarboxylic acid and abnormal serine/threonine ratio. Conclusions Methylmalonic academia might be the most common inherited metabolic diseases in high risky infants in Beijing. For infants with clinical manifestations but unclear etiology, GC-MS should be performed. MS-MS and gene analysis could be combined if necessary.

Objective A HPLC method was established for the determination of paeonol and paeoniflolin in cortex moutan from different processing.To investigate the necessity of processing to the cortex moutan.Methods The HPLC(high performance liquid chromatogram)method was established for the determination of the contents of the paeonol and paeoniflolin in cortex moutan.The conditions of the chromatograph method was as following:AC18 column was used.The mobile phase for paeonol determination was methanol-water(45:55)and detection wavelength was 274nm.The mobile phase for paeoniflorin determ ination was acetonitrile-0.1%H3PO4(15:85)and detection wavelength was 230nm.Results The results showd that the linear ranges of paeonol and paeoniflorin determ ination were 0.36～2.2?g/L～and 0.042～1.06?g/L respectively.The average recoveries of paeonol and paeoniflorin were 96.30%(RSD=0.97%)and 98.21%(RSD=0.64%)respectively.Conclusion The method is simple,accurate and reproducibility.The experimental results showd that the contents of paeonol and paeoniflorin in coaex moutan from diferent processing were positive correlated,while the contents of cortex moutan from Sichuan were higher than that of the others.We had better combine the pharmacodynamic action study to illuminate the feasibility of processing to the Cortex Moutan.

To study the reconstruction methods after vertical partial laryngectomy for glottic carcinoma of the larynx. Method:58 cases with glottic carcinoma of the larynx were treated with vertical partial laryngectomy or extended vertical partial laryngetomy .The clinical materials of these cases were retrospectively studied.Result:The total decannulation rate was 93.1% and the 3-and 5-year survival rates were 87.2% and 80.5% respectively .The voice was socially acceptable in 93.1%(54/58) of the patients. Aspiration was only 3. All resumed mouth-food-taking.Conclusion:The reconstruction methods after vertical partial laryngectomy were mainly decided by the extent of the laryngeal defect. If the laryngeal defect of the framework was small, the pedicle muscular flap was the best reconstruction method in comparison with other reconstruction methods .If the laryngeal defect of the framework was too big ，allograft nasal septal cartilage or epiglottic laryngoplasty should be performed .

0.05).The jitter(q=27.885),shimmer(q=35.839),NNE(q=5.817),and harmonic noise ratio(HNR,q=6.383)decreased significantly at 1 month after the operation(P

Objective To observe the feasibility of combining dezocine with fentanyl in the application of single integral high in‐tensity focused ultrasound(HIFU)ablation of uterine fibroids .Methods One hundred and sixty patients with uterine fibroids trea‐ted by HIFU under conscious sedation were randomly divided into 2 groups(n=80):group A with treatment combined fentanyl and midazolam and group B treated with combined dezocine ,fentanyl and midazolam .Analgesic effect was evaluated with visual analog scale (VAS) .Variation of patients′vital signs (blood pressure ,heart rate ,electrocardiogram ,oxygen saturation) ,pain scores ,com‐fort scores ,sedation scores ,analgesic consumption and side effects were recorded before treatment (T0 ) ,during drug delivery (T1 ) , at the beginning of the treatment(T2 ) ,30 minutes after drug delivery (T3 ) ,at the end of the treatment(T4 ) ,2 hours after treatment (T5 ) ,4 hours after treatment (T6 ) ,8 hours after treatment (T7 )and 24 hours after treatment(T8 ) .Results Both groups showed reliable analgesic effects and vital signs of each time point were stable .VAS scores and Ramsay scores of group A were higher than those of group B ,but there was no statistical difference (P>0 .05) .Three patients in group A showed dysuria and relieved after symptomatic treatment .No respiratory depression occurred in both groups .But compared to group A ,the incidence of the analgesic side effects of group B was significantly lower and patients satisfaction was significantly higher(P<0 .05) .Conclusion The analge‐sic effects of dezocine combined with fentanyl are reliable in HIFU ablation of uterine fibroids with fewer side effects ,and could be worthy to be promoted in clinical use .

Objective To expose the effect and its potential mechanism of vinpocetine (Vinp) on the restenosis of dia?betic grafted veins. Methods Thirty-six Sprague-Dawley rats were randomized into saline control group and Vinp treat?ment group. The autologous jugular vein to carotid artery transplantation was performed in diabetic model rats. Normal sa?line or Vinp were intraperitoneally injected. The rats were sacrificed at 0, 2 or 4 weeks after surgery, then the grafted veins were harvested. The pathological sections were used to detect the effect of Vinp on intimal hyperplasia. The protein expres?sion of proliferating cell nuclear antigen (PCNA) was detected by immunohistochemical method, and which was described by cell proliferation index. The phosphorylation of NF-κB was detected by Western blot assay. Results The treatment of Vinp on intimal hyperplasia in vivo was significant at two weeks after surgery (17.06±5.10)μm versus control group (39.79±7.84μm, P<0.01), (30.94±5.18)μm versus (63.67±18.09)μm at four weeks after surgery (P<0.01). Vinp treatment effectively reduced the protein expression of PCNA [2 weeks:(21.07±1.38)%vs. (28.13±1.35)%,P<0.01;4 weeks:(31.73±1.38)%vs. (63.67 ± 18.09)%, P<0.01]. The treatment of Vinp inhibited phosphorylation of NF-κB at two weeks (1.08 ± 0.42 vs. 0.84 ± 0.12, P < 0.01). Conclusion Vinpocetine can effectively attenuate intimal hyperplasia in diabetic grafted veins, which might be related to its effect on inhibiting phosphorylation of NF-κB as well as inflammation.

Objective To investigate the effect of hyperoxia on growth of type Ⅱ alveolar epithelial cells (AECⅡ).MethodsLungs of fetal rats at 19 days of pregnancy were collected,and AEC Ⅱ was isolated and cultured by differential adherence method.Cells were randomly divided into air group and hyperoxia group.In air group,cells were cultured in 5％ CO2 incubator.And cells in hyperoxia group were cultured in 5％ CO2+95％ O2 incubator.The growth,activity,cell cycle,cell apoptosis of AEC Ⅱ were observed at 2,4,6 and 8 days of culture.The interaction between different time and groups were analyzed by ANOVA of factorial design.Comparison of means was done by two-sample independent t test and one-way analysis of variance.Bonferroni correction was used during the comparisons.Results(1) Cell growth situation:in hyperoxia group,cell number was decreased from2 hto 8 h [(7.29±0.43)×105/ml,(2.68±0.37)×105/ml,(0.23±0.10)×105/ml and (0.00±0.00) × 105/ml],and lower than those in air group [(10.41 ± 0.24) × 105/ml,(27.90±1.91) × 105/ml,(27.12±0.85) ×105/ml and (26.29±1.59) × 105/ml](t=10.992,38.912,94.166and 49.696,P=0.000 respectively). (2) Cell activity:the living cells ratio in hyperoxia group at 2 d[(79.00±0.71) ％],4 d [(52.80±1.14)％] and 6 d [(31.60±1.52)％] was lower than those [(97.00±0.71)％,(97.20±0.84)％ and (95.00±0.71)％] ir air group (t=31.213,70.519 and 84.722,P=0.000 respectively).(3) Cell cycle:the cell ratios of G1 phase and S phase in hyperoxia group at day 4 [(66.82±1.20) ％ and (27.31±1.16) ％] and day 6 [(70.22±1.27) ％ and (30.31±1.40) ％] were significantly higher than that at day 2 and that in air group (P＜0.05 respectively).(4) Cell apoptosis:in hyperoxia group,the cell ratio of Annexin-V+/PI- subgroup at 4 h was the highest [(23.89 ± 0.52)％],followed by those at day 2 and 6 [(21.32 ± 0.43)％ and (1.47 ±0.61)％].While the cell ratio of Annexin-V+/PI+ was the highest at 6 h [(53.92± 1.64)％],followed by those at 4 h and 2 h [(45.03±1.01)％ and (12.17±0.60)％],which were all different with those in air group(P＜0.05 respectively).ConclusionsHyperoxia might inhibit cell activity and cell cycle of AEC Ⅱ and promote apoptosis.

Objective To compare the clinical effects and safety of surgical clipping and intravascular interventional therapy in treatment of intracranial wide-necked aneurysm.Methods The clinical data of 158 patients with intracranial wide-necked aneurysm from February 2010 to February 2013 were retrospectively analyzed,all patients were divided into two groups:surgical clipping group with 92 cases and intravascular interventional therapy group with 66 cases,the postoperative curative effects,treatment time,hospital stay,hospital expenses and postoperative complications between two groups were compared.Followed up for 10-46 months,the recurrence rate were compared.Results The good prognosis and defective rates between surgical clipping group and intravasular interventional therapy group had no significant difference [90.2％(83/92) vs.90.9％(60/66),9.8％(9/92) vs.9.1％ (6/66)] (x2 =0.298,P ＞ 0.05).The preoperative Hunt-Hess classification and CT Fisher classification between two groups had no significant difference (P ＞ 0.05).Six months after discharge,mRS score was used to evaluate the curative effect,the defective rates in same level patients between two kinds of treatment methods had no significantdifference (P ＞ 0.05).The treatment time,hospital stay in surgical clipping group were significantly longer than those in intravascular interventional therapy group [(4.03 ± 1.01) h vs.(1.61 ± 0.98) h,(15.90 ± 2.03) dvs.(13.20 ± 1.95) d],hospital expenses was significantly lower than that in intravascular intervention therapy group [61 829.4 ±320.6) yuan vs.(99 876.2 ±371.5) yuan] (P ＜0.05).The postoperative complications rate between two groups had no significant difference (P ＞ 0.05).Followed up for 31.3 (10-46) months,the recurrence rate in surgical clipping group was significantly lower than that in intravascular intervention therapy group [1.1％ (1/94) vs.8.8％ (6/68)] (P ＜ 0.05).Conclusion Surgical clipping and intravascular interventional therapy in treatment of intracranial wide-necked aneurysm has their own different characteristics,so patients' treatment methods should be based on their preoperative status (especially preoperative Hunt-Hess and Fisher classification) and patients' economic conditions.

Objective To investigate the major effective Chinese materia medica inQuban Prescription for intervention in melanin synthesis.Methods 3×2 factorial design was used. The factors of investigation were Crataegi Fructus, Angelicae Sinensis Radix and Corni Fructus. Tyrosinase activity, melanin generation and auto-oxidation of dopa were determinated respectively; and the major effective Chinese materia medica ofQuban Prescription for intervention in melanin synthesis was analyzed by SPSS16.0 software.Results Tyrosinase activity was remarkably inhibited by Corni Fructus (P<0.05). Melanin generation was remarkably inhibited by Corni Fructus and Angelicae Sinensis Radix (P<0.01). Auto-oxidation of dopa was remarkably inhibited by Corni Fructus and Angelicae Sinensis Radix (P<0.05). Corni Fructus was in an absolute leading position.ConclusionCorni Fructus is the major effective Chinese materia medica in inhibiting tyrosinase activity, melanin generation and auto-oxidation of dopa in the prescription.