Citrin deficiency is an autosomal recessive disorder caused by mutations of the SLC25A13 gene.As a calcium binding mitochondrial aspartate glutamate carrier,Citrin plays an important role not only in the urea synthesis but NADH shuttle as well.Citrin deficiency has two phenotypes:adult-onset typeⅡcitrullinemia and neonatal intrahepatic cholestasis.Citrin deficiency is a common congenital metabolic defect first found in Japan and now is considered as a global disease.

Objective To investigate the clinical efficacy and toxicity in the use of simultaneous integrated boost intensity modulated radiation therapy (SIB-IMRT) for inoperable locally advanced nonsmall cell lung cancer (LA-NSCLC).Methods Between February 2012 and July 2015,58 pathologically diagnosed inoperable LA-NSCLC patients treated with SIB-IMRT were analyzed.A radiation dose of 50-64 Gy was administered in 1.8-2.2 Gy/fraction (26-30 fractions) to the planning target volume (PTV).Simultaneously,60-70 Gy was administered in 2.0-2.35 Gy/fraction (26-30 fractions) to the planning gross tumor volume (PGTV).Results The median follow-up time was 28.0 months (ranging from 6.0 to 40.0 months).The median overall survival (OS) and progress-free survival (PFS) were 25.0 (95％ CI:23.8-26.2) and 15.0 (95％ CI:11.3-18.7) months,respectively.The 1-,2-year OS were 91.4％ and 51.7％,respectively.The 1-,2-year PFS were 56.9％ and 22.7％,respectively.None of the patients developed grade 4 or 5 pneumonitis and esophagitis.In addition,in the subgroup analysis,the patients with N3 have a higher incident of ≥ grade 2 esophagitis compared with N0-N2,the incident are 29.2％ and 20.6％,respectively (P ＜ 0.05).Conclusions SIB-IMRT is feasible and well-tolerated for inoperable LA-NSCLC patients.It remains to be further evaluated in a large sample size prospective clinical trial.

Objective To investigate the clinical features and gene mutation of a newborn with neonatal-onset ornithine transcarbamylase deficiency (OTCD) and report the multidisciplinary perinatal management of the mother with late-onset OTCD.Methods The clinical features,biochemical data and the treatment of a newborn boy with OTCD and his mother admitted by Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine in April,2013,were collected.The ornithine transcarbamylase (OTC) gene in the family was analyzed.Results Serum ammonium in the male newborn gradually increased to 1 020 μ mol/L at 48 h after birth.His blood amino acids level and urine organic acid level showed a pattern indicative of OTCD [blood arginine (97.43 μ mol/L,reference 1.00-25.00 μ mol/L),citrulline (27.43 μ mol/L,reference 4.00-30.00 μ mol/L),ornithine (161.66 μ mol/L,reference 10.00-120.00 μ mol/L) and methionine (70.45 μ mol/L,reference 10.00-50.00 μ mol/L); urine uracil (67.11 μ mol/mol Crea,reference 0.00-7.00 μ mol/mol Crea) and orotic acid (1 372.66 μ mol/mol Crea,reference 0.00-1.50 μ mol/mol Crea)].DNA studies revealed a c.583G ＞ A (G195R) homozygous mutation of the OTC gene.His mother was heterozygous for OTCD and developed acute hyperammonemia during pregnancy.Her blood showed a normal-leveled arginine (8.44 μ mol/L,reference 1.50-25.00 μ mol/L),a normal-leveled citrulline(8.41 μ mol/L,reference 7.00-35.00 μ mol/L),an elevated glutamate(279.15 μ mol/L,reference 45.00-200.00 μ mol/L).Her urine uracil (51.55 μ mol/mol Crea,reference 0.00-7.00 μ mol/mol Crea) and orotic acid (38.75 μ mol/mol Crea,reference 0.00-1.50 μ mol/mol) were elevated.Successful management of her prenatal and postpartum blood ammonia level was achieved after administration of pharmacologic nitrogen scavengers and protein limitation.DNA studies revealed a c.583G ＞ A (G195R) heterozygous mutation in the newborn's mother and grandmother.Conclusions General management on pregnant OTCD women is effective.Male newborn patients often have a poor prognosis.

90%.Then the purified sertoli cells were treated with the toxicants at different dose,i.e.DBP(0.1,1,10,100,500 ?g/ml),BaP(0.01,0.1,1,10,50 ?g/ml)and their combination DBP+BaP(0.1+0.01,1+0.1,10+1,100+10,500+50 ?g/ml).The viability of sertoli cells was determined by MTT method and the lactate concentration in the cultured medium was detected.Results As compared with DMSO control,the absorbance values in 100 ?g/ml DBP and DBP+BaP(100+10 ?g/ml)groups were significantly increased(P0.05).Lactate concentration in 100,500 ?g/ml DBP groups,50 ?g/ml BaP group and DBP+BaP(100+10,500+50 ?g/ml)groups were increased(P

Objectives Inborn errors of metabolism (IEM) has a diverse spectrum and different incidence in different countries, the early diagnosis at presymptomatic stage is imperative to benefic patient from sequelae. Phenylke-tonuria (PKU) / hyperphenylalaninemia (HPA) is the most common metabolism disorder in Shanghai as well as in other regions. The study is to further clarify the incidence of inborn errors of metabolism among newborn in Shanghai. Methods The dried blood spot specimens were collected from near 90 local maternity and children's hospitals or general hospitals in Shanghai. PKU/HPA screening was carried out by fluorometric method. Neonatal screening using tandem mass spectrometry was performed in one of the study centers, Xinhua neonatal screening center. Results A total of 815 160 cases were screened from 2001 - 2007 in Shanghai, the incidence of PKU/HPA was 1 : 12 351. The tetrahydrobiopterin deficiency was 12.9% among hyperphenylalaninemia patients. According to the 116 000 neonatal samples data detected by tandem mass spectrometry, 20 cases were confirmed diagnosis, including 6 kinds diseases, it was PKU/HPA, maple syrup urine disease, methylmalonicacidemia, propionic acidemia, 3-methylcrotonyl-CoA carboxylase defection, and short chain aeyl-CoA dehydrogenase deficiency. Conclusions The pilot study shown that inborn errors of metabolism neonatal screen-ing using tandem mass was 1 : 5 800 in Shanghai, PKU/HPA was the most common disease. It is expected that the expansion of newborn screening using tandem mass spectrometry could be further considered and further improving inborn errors of metabolism preventive services in Shanghai.

Objective To observe the efficacy and safety of cetuximab chemotherapy combined with irinotecan in the treatment of advanced colorectal in the elderly.Methods 40 irinotecanresistant patients with K-Ras wild type were randomized to cetuximab weekly combined with irinotecan group (group A) and cetuximab biweekly combined with irinotecan group (group B).In group A,cetuximab was given at an initial dose of 400 mg/m2,followed by weekly 250 mg/m2.In group B,cetuximah and irinotecan were given at 500 mg/m2 and 180 mg/m2 respectively every two weeks.Time to progression (TTP),overall survival (OS) and toxicity were compared between the two groups.Results There were no significant differences in objective response rate (RR),disease control rate (DOC),TTP and OS between goup A and group B (30.0％ vs.25.0％,60.0％ vs.55.0％,5.8 months vs.5.6 months,9.8 months vs.9.5 months,respectively,all P＞0.05).Grade 3 or more toxicities including hematological toxicity,gastrointestinal reactions and skin toxicity were found in 2 cases,2 cases and 1 case respectively in group A and 3 cases,1 case and 2 cases respectively in group B.The two groups had no significant differences in toxicities (all P＞0.05).Conclusions Cetuximab combined with irinotecan therapy is effective in the treatment of advanced colorectal cancer in elderly irinotecan resistant patients.Cetuximab biweekly regimen is more convenient but has the same efficacy and toxicity as compared with cetuximab weekly regimen.

Objective:We aimed to explore the clinical features, computed tomography (CT) findings, treatment, and prognosis of bronchopulmonary carcinoid. Methods:Clinical data of 31 patients with primary carcinoid tumor of the lung were retrospectively re-viewed. The prognostic factors were analyzed via Cox univariate and multivariate analyses. Results: Clinical symptoms included coughing or expectoration in 17 of the 31 cases, hemoptysis or blood-stained sputum in 7 cases, and chest pains or shortness of breath in 8 cases. Six cases were asymptomatic. The CT scans showed round or oval nodules with clear boundaries, and enhancement CT scans indicated mild, homogeneous enhancement. Immunohistochemistry results revealed the positive expression rates of synaptophy-sin (Syn), chromogranin A (CgA), and neuron-specific enolase (NSE) were 90.3%(28/31), 87.1%(27/31), and 90.3%(28/31), respec-tively. Therapy and prognosis results were as follows:28 of the total number of patients underwent surgery, among which 3 underwent postoperative adjuvant therapy, 2 received chemotherapy; and only 1 refused treatment. The 1-year overall survival rates were 100%(18/18) and 92.3%(12/13), whereas the 3-year survival rates were 94.4%(17/18) and 69.2%(9/13) in the typical and atypical carcinoid cases, respectively. Cox univariate analysis results revealed that lymphatic metastasis (P=0.02), tissue types (P=0.017), TNM stage (P=0.005), and therapies (P=0.01) were the prognostic factors. Cox multivariate analysis results showed that lymphatic metastasis (P=0.032) and tissue types (P=0.002) were the independent prognostic factors. Conclusion:Compared with other lung cancers, the bron-chopulmonary lung carcinoid has no special clinical manifestation in clinical and radiographic images. The diagnosis was mainly based on histopathology results. Surgery was the main and effective treatment, whereas chemotherapy and radiotherapy showed unsatisfactory results. The overall prognosis was satisfactory. However, the atypical carcinoid was inferior to the typical carcinoid in terms of progno-sis. Pathological typing and lymph node metastasis were significant prognostic factors.

OBJECTIVE:To observe the clinical efficacy of the Humai powder for chemotherapy phlebitis. METHODS:80 pa-tients with chemotherapy phlebitis were randomly divided into treatment group and control group with 40 cases in each group. Treat-ment group was given Humai powder for external use,1 h/time,2 times/d;control group was given Hirudoid cream for external use,2 times/day. Venous pain,red and swollen disappearance time,and overall clinical efficacy were compared between 2 groups after treatment 48 hours. RESULTS:The time of red and swollen disappearance and pain disappearance in treatment group were shorter than in control group,with statistical significance (P<0.05);there was no statistical significance in clinical efficacy (cure rate + significant efficiency)between 2 groups(P>0.05),while cure rate of treatment group was significantly higher than that of control group (P<0.05). CONCLUSIONS:Humai powder can relieve clinical symptom of patients with chemotherapy phlebitis and has high cure rate.

objective To summarize the clinical characteristics of AIDS phobia patients and establish the preliminary clinical diagnostic criteria.Methods The clinical information of 46 AIDS phobia patients was collected and summarized.General demographic data,clinical manifestations and laboratory results were analyzed.Results The clinical characteristics of AIDS phobia patients include:(1)With or without high-risk behavior of HIV-1 infection;(2)Patients repeatedly demanded HIV/AIDS related laboratory tests,suspected or believed in HIV-1 infection with daily life affected;(3)The main complaints were non-specific including influenza-like symptoms(headache,sore throat and so on),fasciculation,formication,arthrodynia,fatigue and complaint of fever with normal body temperature;physical examination did not reveal any positive physical sign except white coated tongue;(4)Symptoms mainly appeared 0-3 months after the high-risk behavior while HIV-1 antibody kept negative;(5)T lymphocyte subsets test was carried out in 23 patients and showed 19(82.6%)with CD4+ T lymphocyte count>500/μl,the remaining 4 were 300-500/μl,with the lowest count of 307/μl.Few patients had inversed CD4+/CD8+ ratio but without excessive CD8+T lymphocyte activation.Conclusion AIDS phobia is a complicated physical and mental disease,whose diagnosis and treatment still need further investigation.

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.