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.

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 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.

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 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.

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

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 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.

OBJECTIVETo investigate the clinical and laboratory features of very long chain acyl-CoA dehydrogenase deficiency ( VLCADD ) and the correlations between its genotype and phenotype.

METHODEleven patients diagnosed as VLCADD of Shanghai Jiaotong University School of Medicine seen from September 2006 to May 2014 were included. There were 9 boys and 2 girls, whose age was 2 d-17 years. Analysis was performed on clinical features, routine laboratory examination, and tandem mass spectrometry (MS-MS) , gas chromatography mass spectrometry (GC-MS) and genetic analysis were conducted.

RESULTAll cases had elevated levels of blood tetradecanoylcarnitine (C14:1) recognized as the characteristic biomarker for VLCADD. The eleven patients were classified into three groups: six cases in neonatal onset group, three in infancy onset group form patients and two in late onset group. Neonatal onset patients were characterized by hypoactivity, hypoglycemia shortly after birth. Infancy onset patients presented hepatomegaly and hypoglycemia in infancy. The two adolescent patients showed initial manifestations of exercise intolerance or rhabdomyolysis. Six of the eleven patients died at the age of 2-8 months, including four neonatal onset and two infant onset patients, with one or two null mutations. The other two neonatal onset patients were diagnosed since early birth through neonatal screening and their clinical manifestation are almost normal after treatments. Among 11 patients, seventeen different mutations in the ACADVL gene were identified, with a total mutation detection rate of 95.45% (21/22 alleles), including eleven reported mutations ( p. S22X, p. G43D, p. R511Q, p. W427X, p. A213T, p. C215R, p. G222R, p. R450H, p. R456H, c. 296-297delCA, c. 1605 + 1G > T) and six novel mutations (p. S72F, p. Q100X, p. M437T, p. D466Y, c. 1315delG insAC, IVS7 + 4 A > G). The p. R450H was the most frequent mutation identified in three alleles (13.63%, 3/22 alleles), followed by p. S22X and p. D466Y mutations which were detected in two alleles (9.09%, 2/22 alleles).

CONCLUSIONThe ACADVL gene mutations were heterozygous in our patients. The mortality of neonatal onset form and infant onset form is much higher than the late onset form patients, suggesting a certain correlation between the genotype and phenotype was found. The earlier diagnosis and treatment of VLCADD are of vital importance for the improvement of the prognosis of the patients.

Acyl-CoA Dehydrogenase, Long-Chain ; deficiency ; genetics ; Adolescent ; Age of Onset ; Alleles ; Asian Continental Ancestry Group ; Child ; Child, Preschool ; China ; Female ; Genetic Testing ; Genotype ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Lipid Metabolism, Inborn Errors ; complications ; genetics ; Male ; Mitochondrial Diseases ; complications ; genetics ; Muscular Diseases ; complications ; genetics ; Mutation ; Neonatal Screening ; Phenotype ; Prognosis ; Rhabdomyolysis ; etiology ; Spectrum Analysis ; Tandem Mass Spectrometry

The present study aimed to investigate the impact of hypothyroidism on left ventricular systolic function using real-time three-dimensional speckle tracking imaging (RT3D-STI). Thirty hypothyroidism patients and forty healthy volunteers were recruited and received RT3DSTI measurement of global longitudinal strain (GLS), global circumferential strain (GCS), global radial strain (GRS), and global area strain (GAS). A comparison of differences between the hypothyroidism patients and those in the healthy group was carried out and we obtained the results as followings. The values of GLS were (-18.93 +/- 3.89) vs. (-21.44 +/- 1.99), with P < 0.01, GRS were (51.13 +/- 11.95) vs. (56.10 +/- 5.76), with P < 0.0; and GAS were (-31.63 +/- 5.38) vs. (-34.40 +/- 2.32), with P < 0.01, i.e. they were lower in hypothyroidism group than those in the health group. While GCS were (-17.75 +/- 1.92) vs. 17.03 +/- 3.45), with P > 0.05, which were not significantly different between the two groups. In linear regres sion, GLS showed significant correlation with both TSH (b = -0.69, P < 0.01) and FT3 (b = 0.71, P < 0.01). Meanwhile, the GRS (b = 2.98, P < 0.05) and GAS (b = 3.11, P < 0.05) linearly correlated with FT3 level. In conclusion, the present study shows that the global longitudinal and radial moves of left ventricular are weaker in patients with hypothyroidism than healthy controls. And the impairment of left ventricular function would aggravate as FSH rises or FT3 declines.
Case-Control Studies ; Echocardiography, Three-Dimensional ; Heart Ventricles ; physiopathology ; Humans ; Hypothyroidism ; complications ; Imaging, Three-Dimensional ; Reproducibility of Results ; Systole ; Ventricular Dysfunction, Left ; complications ; diagnosis ; Ventricular Function, Left