Neonatal inherited metabolic diseases are a group of metabolic disorders caused by singe gene defect to cause a series of clinical symptoms.Neonatal dried blood spots have the advantages of simple preparation,safety,good stability,and show strong practicability in different screening methods for inherited metabolic diseases.With the development of screening methods,more and more diseases could be diagnosed by screening.The emergence of tandem mass spectrometry and molecular biological techniques promote the newborn screening and automation for inherited metabolic disease effectively.Inherited metabolic diseases induce great harm to the newborn,which could cause not only system organs damage,but also lead to death.Therefore,early screening is important for patients' prognosis.

BACKGROUND:Early diagnosis and accurate treatment of ligament injuries are the premise of avoiding chronic instability of knee joint and promoting functional recovery of knee joint.
OBJECTIVE:To investigate the clinical efficacy of limited incision with autologous tendon graft for knee ligament injury.
METHODS:Eighty patients with knee ligament damage were randomly divided into two groups. The cases of control group were given orthosis treatment, and the cases of observation group were treated with the limited incision plus autologous tendon graft.
RESULTS AND CONCLUSION:At 6 months post-treatment, the excellent efficacy rate and postoperative quality of life score were increased in the observation group, compared with the control group (P<0.05). The active and passive ranges of motion of knee joint in the observation group were significantly lower than that in the control group (P<0.05). At 3 months post-treatment, Lysholmp scores of the observation group was significantly lower than that in the control group (P<0.05). Limited incision plus autologous tendon graft treatment can significantly improve knee function after knee ligament injury.

OBJECTIVE: To observe the clinical efficacy of Sodium Hyaluronate Eye Drops in combination with Recombinant Bovine Basic Fibroblast Growth Factor Eye Drops for dry eye after undergoing eximer laser in-situ keratomileusis(LASIK).METHODS: 62 cases(100 eyes) of patients with dry eye after undergoing LASIK were randomly divided into two groups: 32 cases(53 eyes) in the treatment group were treated with Sodium Hyaluronate Eye Drops in combination with Recombinant Bovine Basic Fibroblast Growth Factor Eye Drops,and 30 cases(47 eyes) in the control group with Sodium Hyaluronate Eye Drops alone(4 times/day,1～2 drops/time) for 2 months.The drug efficacy was observed for 1～3 months since 1 week after the initiation of medication.RESULTS: The total effective rate in the treatment group vs.the control group was 98.11% vs.89.36%(P

Objective To investigate how the clinical laboratory conducting the verification of analytical measurement range (AM R) of quantitative items detected by the biochemical analyzer according to the requirements of the international standards by verifying the serum creatinine AMR for ensuring the accuracy and reliability of detection results .Methods The enzyme method was adopted to detect the 7‐concentration levels test specimens of CAP linear range proficiency test on the Roche Cobas 501 biochemical analyzer .These 7 specimens target values covered the low ,middle and high values of creatinine AMR marked by the manufacturer′s instructions .Each specimen was detected twice and the mean value was taken ,then the bias between the mean value and target value was calculated .In addition ,referring to the requirements of CLSI guiding document EP6‐P ,the patients′fresh serum contai‐ning high value creatinine was collected ,then mixed with certain proportion and centrifuged .The mixture concentration was calcu‐lated and served as the high value specimen(H) ,and the low value specimen was obtained by the same treatment .Then the high and low value specimens were dispensed with the relations of 5L ,4L+1H ,3L+2H ,2L+3H ,1L+4H and 5H and formed the series specimens .The creatinine levels in each specimen was detected on the Roche Cobas 501 biochemical analyzer ,each specimen was de‐tected 4 times .The obtained data were performed the regression analysis .Results The bias of 7‐level CAP specimen and target val‐ue was less than the allowable error ± 7 .5% [(1/2 × TE)% ] set by the clinical laboratory of the Beijing Sanfine Hopsital .The re‐gression equation of fresh mixed serums from patients was Y =0 .988 6X+16 .614 ,b=0 .988 6 ,between 0 .97 -1 .03 ,intercept a and 0 ,ta < t0 .05 ,P>0 .05 ,which showed no significant difference between intercept and 0 ,the regression line was through 0 point in fact .Conclusion The verification of creatinine AMR marked by the manufacturer′s instructions is passed ,which can be adopted by the clinical laboratory .

Objective To evaluate the radioprotective effects of Quercetin (QN) on 6 Gy X-ray irradiation-induced immune dysfunction and toxicity in hepatic tissue in rats. Methods 40 adult rats were randomly divided into 4 groups. Group Ⅰ was injected intraperitoneally with saline solution for 7 consecutive day sand served as control group. Group Ⅱ was daily injected with QN (40 mg/kg) for 7 consecutive days. Group Ⅲ was irradiated with a single dose of 6 Gy X-ray. Group Ⅳ received a daily injection of QN (40 mg/kg) for 7 consecutive days, and 1 h after the last injection rats were irradiated with a single dose (6 Gy) X-ray irradiation.The animals were sacrificed after 24 h. Lymphocyte transforming rate was measured with MTT method, and CD+4 T, CD+4 T and CD+8/CD+8 T were measured with flow cytometry method. Oxidative conditions in liver were measured with malondialdehyde (MDA), reduced glutathione hormone (GSH), supernxide dismutase (SOD) andglutathione peroxidase (GSH-Px) activities kits. HE staining was used to observe the general condition of rat's liver. Results Lymphocyte transforming rate, CD+4 T, CD+8 T and CD+8/CD+8 T in rats of Group Ⅳ were all higher than those in rats of Group Ⅲ ( F = 8.455,22.644, 18.911, P < 0.01 ). MDA content in the Group Ⅳ rat's liver was lower than that in the Group Ⅲ ( F = 10.059, P < 0.01 ) and antioxidant enzymes SOD, GSH-Px activities were higher than those in Group Ⅲ (F = 23.688,186.046,19.788, P < 0.01 ). The capillary of the hepatic lobules dilated and congested obviously in portal area, involving infiltration of polymorphonuclear leukocytes in the Group Ⅲ, while QN improved this change apparendy. Conclusions Pretreatment with Quercetin improved the irradiated rat's immune functions and protected the irradiated rats from oxidative stress to some extent.

Objective To discuss the effective measures for skin allergy caused by hyaline mem-brane after deep venous catheterization. Methods Patients (102 eases) were divided into the control group(50 cases) and the test group(52 cases).3M hyaline membrane was patched on the skin directly to fix the catheter after successful puncture in the control group.While in the test group 3M hyaline membrane was patched on the skin after 3M painless protective membrane was sprayed on the skin. Results The incidence of skin allergy in the test group was lower than that of the control group. Conclusions Spray of 3M painless protective membrane before usage of hyaline membrane to fix the catheter could prevent the incidence of skin allergy after deep venous catheterization.

Objective To evaluate the clinical practicality of two different D-dimer assays by studying the correlation of the testing results by two different D-dimer reagents with fibrin degradation products (FDP)result values and analyzing the Clinical alignment.Methods A representative cross-sectional study of 762 clinical patients’plasma specimens were taken to measure the results of D-dimer and FDP by using Sysmex CA-1500 automated coagulation analyzer,D-DIMER detection rea-gent respectively Siemens Innovance D-DIMER and Dade Behring D-DIMER Plus reagents.Then rating frequency analysis and Spearman correlation test were applied to analyze the correlation of measurement results.Results Overall,to the same patient,the correlation of D-dimer tested by Siemens Innovance D-DIMER Reagent with FDP level was significant positive (r= 0.954,P<0.01),better than that tested by Siemens DD Plus Reagent (r=0.885,P<0.01);and this correlation had an increasing trend when D-dimer level raised.When D-dimer level > 5 mg/L FEU,the correlation was the best (P<0.01). And by calculating the amount of positive FDP (FDP>5μg/ml)and FDP positive rate in both different cases when D-dimer results was also positive,FDP positive rate in Innovance D-DIMER Reagent group (about 65.76%)was lower than DD Plus Reagent group,it indicated that D-dimer results tested by Innovance D-DIMER Reagent could raise before FDP reacted,so D-dimer had a higher sensitivity than FDP.Conclusion It can provide a more precise clinical diagnosis and treatment infor-mation when using Siemens Innovance D-DIMER Reagent to detect D-dimer values and combined FDP values at the same time.

Objective To investigate the correlation between mucosal healing after treatment and prognosis of ulcerative colitis (UC).Methods UC patients who were remitted after treatment (n =82) were divided into MH group(A:DA1,0-1 ; Geboes,0-1) and non-MH group (B:DAI,0-1 ; Geboes,2-5) according to the assessment and were followed up for 2 years.The baseline characteristics,histological parameters,serologic indices (albumin,ESR,CRP,ANCA,IL-1 β,IL-6 and IL-15) at 0,12,24 months or recurrence and hospitalization,colon surgery,colon cancer were recorded.The correlation between mucosal healing and prognosis were assessed.Results There were no significant differences between group A and B in recurrence rate and recurrence time(P ＞ 0.05).The multivariate Cox regression analysis showed that gender (female),past recurrence,pANCA and basal plasmacytosis were independent risk factors for recurrence of UC (P ＜ 0.05).The rehospitalization rate [27.5％ (group A) VS 44.1％ (group B) ; P =0.018 ; OR=2.24,95％CI (1.11-3.98)] and colectomy rate [0％ (group A) VS 17.6％ (group B); P=0.035; OR =5.43,95％ CI (2.14-7.64)] between groups have significant differences,however,rates of cancer [0％ (group A) VS 2.7％ (group B) ; P=0.643; OR =3.43,95％CI (0.14-7.64)] were not significantly different.Conclusion Mucosal healing after treatment is associated with UC prognosis.

Objective To develop a visible detection system prepared by protein microarrays which was based on GoldMag particles-labeled technique and compare the results of detection using the protein which was labeled with GoldMag particles and colloidal gold.Methods Human IgG was printed on the glass slides modified with epoxy groups,and goat anti-human IgG conjugated with GoldMag particles and colloidal gold respectlively was then added on the slide.The glass slides were incubated,and then the black images of microarray spots were produced by immuno-gold-silver staining method and observed by naked eyes and recorded with common flatbed scanner.Results The high signal-to-noise ratio could be obtained when the optimized procedures of GoldMag particles-labeling probe were introduced to the protein chip.The conditions of optimum assay were as follows:the spotting concentration of human IgG was 0.2 mg/ml,the glass slides were incubated at 37 ℃ for 2 hour to immobilize human IgG,and the silver enhancement time was 10 min-15 min.Parallelly,the optimized conditions for colloidal gold were as follows:the spotting concentration of human IgG was 0.1 mg/ml,the slides were incubated at 37 ℃ for 1 hour to immobilize human IgG,and the silver enhancement time was 15 min-20 min.Conclusions GoldMag particles-labeled protein technique is comparable to colloidal gold in applying to protein microarrays.The method is considerably simple and practical,and the protein labeled by GoldMag particles could be quantitative.

Objective To investigate the relationship between C734A and G-2964A polymorphism of cytochrome P450 1A2 gene and clinical efficacy of duloxetine.Methods 223 patients with depression were treated with duloxetine for six weeks.The clinical efficacy was evaluated with the Hamilton rating scale for depression (HAMD) ;single nucleotide polymorphism (SNP) at position C734A and G-2964A of CYP1A2 gene were identified with restriction fragment length polymorphism(RFLPs) ;then one-way ANOVA was adopted to analyze the relationship between SNP and clinical efficacy.Results (1) In 223 patients,the frequency of allele A at locus 734 was 63.64％,while that of allele A at locus-2964 was 26.82％.(2) 220 patient underwent the whole treating course.The conjoint analysis of two locuses indicated that the decreasing ratio of HAMD score of high-activity group,middle-activity group and low-activity after treatment was (56.05± 10.13) ％,(66.36± 8.66) ％ and (73.82± 7.10) ％ respectively,the differences obtained by pairwise comparison of the three groups were of statistical significance(P＜0.01).Conclusion There is close relationship between C734A and G-2964A polymorphism of CYP1A2 gene and clinical efficacy of duloxetine in the treatment for depression.