Objective To develop the clinical application of tandem mass spectrometry in earlystage diagnosis of patients with growth retardation.Methods Tandem mass spectrometry was used to quantitatively detect blood amino acids and acyl carnitine in 155 cases of children with growth retardation.The tandem mass spectrometry results,clinical symptoms,and treatment tracking results were analyzed.Results Ten patients with inborn metabolic absence of amino acids and acyl carnitine were confirmed including four cases of methylmalonic acidemia,one case of propionic acidemia,one case of medium-chain acyl-coenzyme A dehydrogenase deficiency,one case of ornithine transcarbamylase deficiency,and three cases of phenylketonuria.Conclusions Tandem mass spectrometry was helpful for some patients in etiologic diagnosis and therapeutic effect assessment of cerebral developmental retardation.

Background and purpose:Breast cancer is one of the most common malignant diseases in women and its malignant proliferation is the major cause of death. To investigate the effects of N-myc downstream regulated gene 2 (NDRG2) on proliferation of breast cancer cells by using two parallel cell lines (MCF-7 and LM-MCF-7) with different metastatic abilities.Methods:The expression level of NDRG2 in breast cancer cells was detected by Western blot. The effects of overexpressing (or down-regulating) NDRG2 on proliferation of breast cancer cells were investigat-ed by lfow cytometry. The expression and location of β-catenin were detected by Western blot and immunolfuorescence respectively. NDRG2 blocking the transcription activity of β-catenin was investigated via co-transfecting MCF-7 cells with NDRG2 siRNA and pCMV-Tcfδ (lacking the portion responsible for the protein binding to DNA).Results:The expression level of NDRG2 was negatively related to the proliferation ability of breast cancer cells. Over-expressing NDRG2 (or down-regulating) via transfecting LM-MCF-7 (or MCF-7) cells with pCMV-NDRG2 (or NDRG2 siRNA) could inhibit (or promote) cell proliferation. Interestingly, the results of Western blot, immunolfuorescence and lfow cytometry revealed that down-regulation of NDRG2 resulted from the down-regulation of β-catenin and blocking its nuclear translocation, which led to losing control of the proliferation of breast cancer cells.Conclusion:NDRG2 inhibit the proliferation of breast cancer cells via down-regulating the expression of β-catenin and blocking its nuclear translo-cation, which is signiifcant for exploring the molecular mechanism of proliferation of breast cancer cells.

Objective To explore the diagnostic value of Alzheimer-associated neuronal thread protein(AD7C-NTP)and olfactory function in the differentiation of three types of dementia,and to evaluate their clinical application value.Methods Mini-Mental State Examination (MMSE)and Montreal Cognitive Assessment(MoCA)were applied to evaluate cognitive function of all subjects with Alzheimer disease(AD),frontotemporal dementia (FTLD),or mixed dementia (MD).Enzyme-linked immunosorbent assay(ELISA)was used to detect the expression levels of AD7c-NTP in urine.T&T test method was applied to detect the olfactory function.Spearman rank correlation was used to evaluate the correlation of urine AD7c NTP with MMSE and MoCA scores.Results There was no significant difference in the demographic profile (except age)among three types of dementia of AD,FTLD and MD(F =4.05,P =0.02).Among the three dementia groups,the mean age of the MD group was highest.The statistically significant difference in MMSE scores was found among the three groups(F 3.79,P=0.03),while there was no significant difference inMoCAand NPI scores among the three dementia groups.The levels of the urine AD7c-NTP were different among the three dementia groups,but without statistical significance(H 1.25,P =0.53).Additionally,the FTLD group had the highest urine AD7c NTP level.Spearman rank correlation analysis showed no correlation of AD7c-NTP with MMSE and MoCA(r =0.18,P =0.25;r =0.14,P =0.39,respectively).No differences in olfactory function of the recognition domain(H =3.40,P=0.18)and in the detection domain(H =2.07,P=0.36)were found among three dementia groups of AD,FTLD and MD.Conclusions The level of urine AD7c-NTP is not of clinical significance in differentiating three types of dementia,and it is not correlated with the MMSE and MoCA scores.This study fails to find the clinical value of olfactory function test for distinguishing three types of dementia.