Application of TMS technology in newborn screening has resulted in major expansion of disorder panel for metabolic diseases in recent years. This automated, multiplex testing methodology detects multiple analytes from single analysis of one blood spot, which leads to detection of 30-35 disorders of amino acids, organic acids, and fatty acids metabolism. The early identification of persons affected with inborn errors of metabolism has led to unexpected discoveries related to the natural history of the disorder or options for therapy. This article summarized (1) the basic principles of this technology and methodology. (2) Current status of application of this methodology in the United States, European countries and in China. (3) The positive impacts on the public health and advances in medical genetics. Finally (4) Challenges, issues and possible solutions. The purpose of this article aimed at introducing new technology and exploring the possibilities of implementing into developing countries where medical genetics is not developed and foreseeing the possible problems and obstacles.

24 ng/ml,sensitivity and specificity were 90% and 92.9% respectively.Conclusions The diagnosis value of 14-3-3 protein in CSF is higher than that of NSE. The combination of CSF 14-3-3 protein and NSE can improve the sensitivity and specificity in diagnosis of CJD.

Objective To explore the diagnostic value of quantitative test of 14-3-3 protein content in cerebrospinal fluid(CSF)in sporadic Creutzfeldt-Jakob disease(sCJD).Methods The Capture Assay was used to detect the level of CSF 14-3-3 protein in 14 cases of sCJD(sCJD group),10 cases of other dementia(OD group),12 cases of non dementia(ND group).Results The media of 14-3-3 protein content was 40.00 ng/mg in sCJD group,2.65 ng/mg in OD group,and 3.10 ng/mg in ND group,respectively.It was significantly higher in sCJD group than that in groups OD and ND(all P

The study on bioartificial liver support system was widely accepted in recent years. It's mainly containing material-hepatocytes. This summary is concerning about the research and application of hepatocytes in this field.

Objective:To observe the therapeutic effects of plasma exchange in severe hepatitis. Methods:53 cases served as treatment group and 49 cases as control group. Both groups were similar in basic medical treatment, and an additional treatment of plasma exchange was carried in the treatment group. 186 times of plasmas exchange were performed in the treatment group, to observe and compare the changes in patients of the 2 groups in symptoms、liver functions and survival rates. Results:The clinical symptoms of patients in the treatment group were obviously improved, the liver functions were also obviously improved in the treatment group as compared with the control group, and the survival rate of treatment group was higher than that of control group(73.58% vs 46.94%, P

Objective To observe the nuclear translocation of transcription factor NF-κB and IRF-3 in TLR4 silenced EVC304 cells infected by HTNV and to provide new information for anti-HTNV innate immunity and its signal transduction. Methods TLR4~- cells and TLR4~+ cells were infected by HTNV 76-118, respectively. The cells stimulated by LPS were selected as positive control groups, and the cells without stimulation were selected as negative control groups. After 6 hours, indirect immunofluorescence assay(IFA) was used to detect the nuclear translocation of NF-κB and IRF-3. Results The transcription factor NF-κB and IRF-3 transfered into nuclear 6 hours after stimulated by HTNV 76-118. Conclusion TLR4 may mediate the nuclear translocation of transcription factor NF-κB and IRF-3 in HTNV infected human umbilical vein endothelial cells.

Objective To investigate the effect of tandem mass spectrometry and gas chromatography-mass spectrometry to make prenatal diagnosis of methylmalonic acidemia (MMA) by detecting organic acid and acylcarnitine in amniotic fluid.Methods From October 11,2007 to December 20,2014,131 pregnant women with MMA proband received prenatal diagnosis of MMA in Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine (case group).Another 120 cases of pregnant women for conventional prenatal diagnosis at the same period were as control group.The pregnant women of two groups had the amniocentesis at 16 to 20 weeks of gestation.The levels of propionylcarnitine(C3) and acetylcarnitine(C2)in amniotic fluid were detected by tandem mass spectrometry.The methylmalonic acid and methylcitrate acid were detected by gas chromatography-mass spectrometry.MMA gene of cells in amniotic fluid of eighty fetuses with proband clearly diagnosed were detected by gene testing.Data were analyzed by Wilcoxon test.Results In case group,29 fetuses were found positive for higher level of C3,C3/C2,methylmalonic acid and methylcitrate acid compared with normal reference value,and the detected rate of fetal MMA was 22.1％(29/131).The levels of C3 and C3 / C2 in amniotic fluid of these 29 cases were higher than those in control group[8.13(2.42-16.70) vs 1.04(0.52-3.40) μmol/L,Z =-8.313; 0.77(0.30-1.79) vs 0.10(0.05-0.22),Z=-8.374; P ＜ 0.05 respectively].The levels of methylmalonic acid and methylcitrate acid were also higher[9.13(1.68-61.78) vs 0.00(0.00-1.31) mmol/mol Crea,Z=-11.348; 0.58(0.00-1.90) vs 0.05(0.00-0.52) mmol/mol Crea,Z=-6.632,P ＜ 0.05 respectively].For the other 102 cases in case group,the levels of C3,C3/C2,methylmalonic acid and methylcitrate acid were not higher than normal reference value,and were similar to those in control group (P ＞ 0.05); while they were lower than those of positive MMA fetuses (all P ＜ 0.05).Among 29 positive fetuses,16 fetuses were detected MMA gene,five were diagnosed as MUT forms of MMA and 11 were MMACHC forms of MMA.In 102 MMA negative fetuses,64 fetuses were detected MMA gene,44 were found one mutant site and 20 were found no gene mutation.The coincidence rate between gene detecting and mass spectrometry was 100％(80/80).Conclusions Mass spectrometry could be used to measure the C3,methylmalonic acid and methylcitrate acid levels in amniotic fluid of pregnant women with MMA proband to make prenatal diagnosis.

Twelve patients with maple syrup urine disease were treated with restricted natural protein intake,special nutrition powder,and vitmin B1.The manifestations of these patients were greatly improved after treatment.The blood levels ofleucine and valine were significantly decreased after treatment(P＜0.01).Although the level of branched-chain α-ketoacids in urine was reduced,but not significantly.

Objective To investigate the acid α glucosidase(GAA)gene mutations and clinical features of a Chinese patient exhibiting signs and symptoms of infantile glycogen storage disease type Ⅱ(GSD Ⅱ). Methods Clinical features of the patient were reviewed,and GAA activity in the patient＇s and her parents＇ whole leukocytes were measured. GAA coding regions were amplified by polymerase chain reaction(PCR),and analyzed by direct DNA sequencing. Results The patient showed feeding difficulties,generalized hypotonia and weakness starting at 2 months of age. Cardiomegaly and cardiomyopathy were found at 4 months. She died of cardiorespiratory failure at the age of 6 months. GAA activity in leukocytes was low in the patient(17.3% of the median normal range). Genotyping revealed the patient was a heterozygote for a novel nonsense mutation p.W738X and a previously reported nonsense mutation p.E888X. The reported pseudodeficiency allele c.1726G ＞ A;2065G ＞ Awas found in the patient and her mother. Conclusions Correct diagnosis was made for this patient by combination of GAA activity assay and genetic analysis. From the clinical course,this patient should be classified as infantile type of GSD Ⅱ,suggesting that the novel mutation p.W738X may have a damaging effect on the function of GAA. Pseudodeficiency allele found in this family highlights the importance of genetic analysis of GAA when performing diagnosis and prenatal diagnosis for the affected families,as this allele causes low GAA activity in normal individuals.

ld have an improved outcome after reasonable treatments. The gene mutation detection suggests that 609G>A (W203X) may be the hot spot mutation of MMACHC gene in Chinese patients.