OBJECTIVE:To study the adsorbability of plastic transfusion bottle and infusion set to diazepam. METHODS:With the reference of plastic-bottled 5% glucose injection,HPLC was used to determine the changes of mass concentration of diazepam adding into plastic-bottled 5% glucose injection at different time;disposable plastic infusion set was connected to simulate intrave-nous infusion and determine the changes of mass concentration of diazepam in the liquid effluent at different time. RESULTS:The mass concentration of diazepam in glass infusion bottles group was higher than in plastic transfusion bottles group. The adsorbabili-ties of solutions showed the strongest at the time of 15-20 min. The mass concentration of the effluent liquid from the glass bottle group was about 80% of the original concentration and plastic bottle group was about 67%. As the time went on,the adsorbability was gradually saturated at 60 min and the concentration rose again;the mass concentration of the effluent liquid from the glass bot-tle group returned to 95%of the original concentration at 80 min and the plastic bottle group was about 75%of the original concen-tration. CONCLUSIONS:Both plastic infusion bottle and infusion set have strong adsorbability to diazepam. It is suggested that the dosage of diazepam should be increased by 25% to 33% while plastic-bottled 5% glucose injection is used as solvent for intrave-nous drip.

Objective To explore the clinical features and diagnosis of primary immunodeifciency disease caused byTyk2 gene mutations.Methods Clinical data from the ifrst case in China diagnosed of primary immunodeifciency disease caused by Tyk2 gene mutation were retrospectively analyzed, and related literature was reviewed.Results One year and 3 month old boy suffered with repeated pulmonary infection, chronic otitis media, intractable eczema like rash, repeated skin abscess, HSV infection, intracellular bacterial infection, and remarkedly increased total IgE. It was detected that compound heterozygous mutations of c.2269C>G in No. 16 exon and c.149delC in No. 3 exon inTyk2 gene. Literature searching found other 8 cases (5 males and 3 females) of immune deifciency patients caused byTyk2 gene defects, all of which hadTyk2 gene homozygous mutations and presented with repeated infection of paranasal sinus and lung. In the 8 cases 6 cases were combined with mycobacterium tuverculosis infection, 4 cases had repeated virus infection, 4 cases had meningonecephalitis, 3 cases had intractable eczema like rash, 2 cases had salmonella enteritis, 1 case had remarkedly increased total IgE, one case had elevated eosinophils, 5 cases were born in intermarriage family and 1 case died of meningitis caused by unknown etiology.Conclusions When patients have repeated paranasal sinus infection and lung infection, combined with intracellular bacterial infection (including mycobacterium tuberculosis infection), and repeated virus infection or intractable eczema like rash, with or without increased total IgE, immunodeifciency disease caused by Tyk2 gene defection should be considered. Gene sequence analysis can assist in early diagnosis.

Objective To investigate the alterations of serological endothelin(ET) in patients with kawasaki disease(KD) and its relation with coronary dilatation(CAD).Methods Serological ET were measured in 50 cases of patients with KD in acute phase as well as subacute phase; 30 cases of patients with acute febrile infection(IC) in infective phases and 30 healthy children(HC).Results 1.ET in subacute phase significantly increased than that in acute phase.2.In both acute and subacute phases of KD, ET significantly elevated higher than that in HC; and ET in subacute phase significantly elevated than that of IC. 3. Fifty-four percentage patients with KD were complicated with CAD. For CAD subgroup, ET had no difference with CAD subgroup in subacute phase.Conclusion ET has still increases in subacute of KD,which indicates the relation with coronary artery lesion.

Objective To evaluate the effects of oxycodone combined with incision infiltration with ropivacaine on postoperative outcomes in the patients undergoing laparoscopic cholecystectomy.Methods Eighty American Society of Anesthesiologists physical status Ⅰ or Ⅱ patients of both sexes,aged 33-64 yr,weighing 45-88 kg,scheduled for elective laparoscopic cholecystectomy under general anesthesia,were divided into 2 groups (n=40 each) using a random number table:patient-controlled intravenous analgesia group (group P) and oxycodone combined with incision infiltration group (group O).In group P,fentanyl 1-2 μg/kg was intravenously infused after cholecystectomy,and patient-controlled intravenous analgesia was performed with sufentanil at the end of surgery.In group O,oxycodone 0.05-0.10 mg/kg was intravenously injected after cholecystectomy,incision infiltration was performed with 0.5％ ropivacaine before suturing,and visual analog scale score was maintained ≤ 3.The emergence time,time to first flatus,time to liquid diet,first ambulation time,length of hospital stay after operation and adverse reactions were recorded.Results Compared with group P,the time to first flatus,time to liquid diet,first ambulation time and length of hospital stay after operation were significantly shortened,the incidence of urinary retention and nausea and vomiting was decreased (P＜0.05),and no significant change was found in the emergence time in group O (P＞0.05).Conclusion Combination of oxycodone and incision infiltration with ropivacaine can promote postoperative outcomes in the patients undergoing laparoscopic cholecystectomy.

ObjectiveTo observe protective effects of agmatine (AGM) on inflammatory response and spleen immune function in mice with trauma.Methods Forty-eight adult male C57BL/6 mice were randomly divided into three groups (n= 16 each), including control group, model group (bilateral femoral fracture and removal of 35% of the total blood volume), and AGM group (trauma/hemorrhage & AGM 200 mg/kg). Eight mice in each group were sacrificed at 3 hours and 24 hours, respectively, after modeling, and blood samples and tissue homogenate of spleen and liver were collected. The contents of tumor necrosis factor-α (TNF-α), interleukins (IL-6, IL-1β) in serum and liver tissue were determined with enzyme linked immunosorbent assay (ELISA). Serum aspartate transaminase (AST), alanine aminotransferase (ALT) and lactic dehydrogenase (LDH) were determined with automatic biochemistry analyzer. Spleen proliferation response stimulated with concanavalin A (ConA) was evaluated with methyl thiazolyl tetrazolium colourimetry (MTT).γ-interferon (IFN-γ) and IL-2 releases were determined with ELISA.Results Compared with control group, 3 hours after trauma/hemorrhage, the levels of serum TNF-α, IL-6, and IL-1β in model group were significantly elevated [TNF-α (ng/L): 145.38±31.50 vs. 23.06±11.14, IL-6 (ng/L): 496.94±50.76 vs. 47.13±17.47, IL-1β (ng/L): 321.31±43.02 vs. 29.25±16.24,allP< 0.01]. It was found that AGM treatment could alleviate the increase in serum pro-inflammatory mediators induced by trauma/hemorrhage, such as TNF-α (ng/L:111.56±25.47 vs. 145.38±31.50), IL-6 (ng/L: 412.56±44.33 vs. 496.94±50.76), IL-1β (ng/L: 273.38±45.25 vs. 321.31±43.02,P< 0.05 orP< 0.01). Twenty-four hours after trauma/hemorrhage, serum pro-inflammatory mediators were recovered to the levels in control group. There was no significant difference in TNF-α and IL-6 levels at 3 hours after trauma/hemorrhage among groups. Compared with control group, the expressions of liver TNF-α and IL-6 in model group were increased at 24 hours following trauma [TNF-α (ng/mg): 32.93±4.90 vs. 26.58±2.33, IL-6 (ng/mg): 11.20±1.66 vs. 8.38±0.89,bothP< 0.01]. However, AGM inhibited the level of TNF-α (ng/mg:28.92±3.16 vs. 32.93±4.90) and IL-6 (ng/mg: 9.03±1.28 vs. 11.20±1.66) in the liver as induced by trauma/hemorrhage (P< 0.05 andP< 0.01). At 24 hours after modeling, model group and AGM group had distinctly higher serum AST, ALT, LDH levels than those of control group [AST (U/L): 405.9±31.2, 245.7±22.1 vs. 128.2±15.9; ALT (U/L): 92.1±6.3, 51.6±5.0 vs. 30.1±3.2; LDH (U/L): 606.7±36.3, 478.7±25.3 vs. 384.0±16.6, allP< 0.01]. Nevertheless,the increase in serum AST, ALT and LDH was alleviated in AGM group (allP< 0.01). Meantime, trauma/hemorrhage produced a noticeable depression of proliferation of splenic cells and IFN-γ and IL-2 release stimulated with ConA compared with control group [proliferation rate: (40.97±4.13)% vs. (89.99±7.76)%, IFN-γ(ng/L): 91.6±12.3 vs. 353.2±21.5,IL-2 (ng/L): 53.4±6.4 vs. 91.0±12.2,allP< 0.01]. In contrast, AGM notably restored the capacity of proliferation response of splenic cells [proliferation rate: (74.86±5.75)% vs. (40.97±4.13)%, P< 0.01],enhanced the release of IFN-γ and IL-2 stimulated with ConA [IFN-γ (ng/L): 327.8±23.6 vs. 91.6±12.3, IL-2 (ng/L): 74.8±10.4 vs. 53.4±6.4, bothP< 0.01].Conclusion AGM can dramatically alleviate spleen immunosuppression, excessive inflammation and organ damage induced by trauma/hemorrhage.

Objective To investigate the molecular defects of CYPl7A1 gene in a pedigree with two 46,XY patients suffering from 17α-hydroxylase deficiency (17-OHD) and explore the steroid biosynthetic difference in carriers of 17-OHD before and after adrenocorticotrophic hormone (ACTH) test.Methods Clinical data and hormone profiles were collected from the members of the pedigree.CYPl7A1 genotyping was performed in the patients and family members with PCR-direct sequencing.A short ACTH test was evaluated in some cases.Results The CYP17 genes of the patients were proved to hold a homozygous mutation with a base deletion and a base transversion (TAC/AA) in exon 6,which produced a missense mutation of Tyr→ Lvs at codon 329 and changed the open reading frame following this codon.The hormone response of the carriers after ACTH stimulation was abnormal between the patients and normal controls.Conclusion 17-OHD in this family was caused by CYP17A1 mutation (TAC329AA):some hormonal response to ACTH stimulation Was abnormal in carriers.

Objective To explore the clinical phenotype, treatment and prognosis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, and to improve pediatricians' knowledge of this disease. Methods Clinical data of a case of IPEX with congenital ichthyosiform skin lesions were retrospectively analyzed, and related literatures China were reviewed. Results The 2-month-11-day old boy came to our hospital due to ichthyosiform skin lesions accompanied by blood oozing in the head and feet exudatation, with severe sepsis and gastrointestinal perforation. He was died of multiple organ failure. DNA sequencing of whole-genome exon group showed a hemizygous mutation of c.1150G> A, p.A384> T in FOXP3 gene. His mother was a heterozygous mutation carrier, while his father was normal. Conclusions In addition to typical symptoms including early-onset refractory diarrhea, multiple endocrine disease and growth retardation, IPEX should be considered also in infants with ichthyosiform rash and severe infection. Gene sequencing will help diagnose the disease.

Objective To study the changes of serum interleukin(IL)-4,IL-12 and correlation with cellular immunity in children with asthma of different stages.Methods Fifty asthmatic children were randomly selected, including 30 cases in attack stage (group A) and 20 cases in remission stage (group R). At the same time, 22 healthy children were studied as normal controls (group N).The levels of IL-12 and IL-4 ,T cells subgroups and erythrocyte immunity were detected.Results 1.Serum IL-12 levels were (24.44? 13.26 ),(42.30?12.65),(44.68?28.28) ng/L in group A, R and N,respectively. There was significant difference in three groups (F=8.92 P

Objective To investigate the effects of family allergic history and dermatophagoides farina on the expressions of Th1/Th2 cytokine of cord blood and allergic disorders in infancy.Methods Ten mil cord blood were obtained from 34 neonates which 17 cases had family allergic history and 17 cases didn′t have.Cord blood mononuclear cells(CBMC) were isolated by gradient centrifugation with Ficoll and were cultured with phytohemagglutinin(PHA) or dermatophagoides farina for 48 hours in vitro.The expressions of interleukin(IL-4) and interferon(IFN-?) of the culture supernatant were detected by enzyme-linked immunosorbent assay(ELISA).Two groups were visited with telephone or clinical service every 1 or 2 months in 1 year follow-up survey.Results In no stimulation,the expressions of IL-4 of family allergic history and no family allergic history were(11.35?1.80) ng/L and(11.0?1.50) ng/L,respectively,there was no significant difference.The expressions of IFN-? were(9.55?1.47) ng/L and(10.19?1.37) ng/L,respectively,there was no significant difference also.In PHA stimulation,the expressions of IL-4 were(43.45?4.57) ng/L and(37.58?3.41) ng/L,respectively,there was significant difference.The expressions of IFN-? were(72.61?25.40) ng/L and(65.84?29.96) ng/L,respectively,there was no significant diffe-rence.In low density dermatophagoides farina stimulation,the expressions of IL-4 were(40.54?3.64) ng/L and(37.17?2.60) ng/L,respectively,which had significant difference.The expressions of IFN-? were(35.30?2.73) ng/L and(40.55?1.85) ng/L,respectively,which had significant difference.In high density dermatophagoides farina stimulation,the expressions of IL-4 were(43.50?3.19) ng/L and(39.55?4.13) ng/L,respectively,which had significant difference.The expressions of IFN-? were(39.40 ?5.21) ng/L and(40.94?2.96) ng/L respectively,which had no significant difference.Allergic diseases were happened in 7 cases of 13 cases with family allergic history and in 2 cases of 15 cases without family allergic history in 1 year follow-up except lost follow-up cases.There were significant difference in 2 groups.Conclusions Th2 cells of cord blood are relative dominant in neonates having family allergic history.Th2 cells relative dominant are more obvious in dermatophagoides farina stimulation.The neonates having family allergic history have a tendency to get allergic diseases in childhood.

Objective Establish a method for measuring the activities of Galactocerebrosidase (GALC), α-Glucosidase(GAA), α-Galactosidase (GLA) and α-L-Iduronidase (IDUA) in dried blood spots specimen by tandem mass spectrometry ( MS/MS ).Methods A total of 2175 dried blood spot samples forinborn errors of metabolism in neonatalscreening center of Shanghai Xinhua hospital were collected in July and November, 2013.And twenty dried blood spot samples from patients withlysosomalstorage disorders( LSDs) of Shanghai Xin Hua Hospital were collected from September 2012 to January 2014.The extraction of DBS was incubated with enzyme substrates and internal standards.After liquid-liquid and solid-phase extraction, the extraction solution was dried under nitrogen and reconstituted.Then enzyme reaction products and internal standards were analyzed by MS/MS.Linearity, precision, accuracy and the limit of detection were evaluated.2175 dried blood spot samples were detected to establish the normal reference range for the activities of four enzymes according to 0.5th to 99.5th percentiles.20 specimens from patients withLSDs were detected to verify the reference range inclinical judgment.Results The intraassay and interassay precisions ranged from 1.7%to 11.8%, and the intraassay and interassay accuracies ranged from 85%to 115%.The linear coefficients for measured concentration of enzyme products/internal standards and theoretical concentration were 0.997-0.999.The limits of detection forGALC, GAA, GLA and GLA were 0.03 μmol/(L· h), 0.09 μmol/(L· h), 0.12 μmol/(L· h) and 0.16 μmol/(L· h) .The normal reference values for GALC, GAA, GLA and GLAwere 0.51-8.51μmol( L· h) ,1.99-22.22μmol/( L· h),1.68-41.59 μmol/(L· h) and 2.36-19.21 μmol/(L· h).The enzymes of 20 patients with LSDs were remarkably decreased compared to the normal range.The Krabbe, Pompe, Fabry, MPSⅠpatients can be effectively detected by this MS/MS method.Conclusions A MS/MS method for measuring GALC, GAA, GLA and IDUA enzyme activities in DBShas been established.