Objective We reported previously that single nucleotide polymorphisms SNP) + 11G ＞ A in intron 3 of the human urate transporter 1 (hURAT1) gene are associated with hyperuncaemia in Han Chinese.The aim of the present study was to evaluate the effect of the variants on hURAT1 function.Methods The wild-type,mutant-type hURAT1 and exon 5-null hURAT1 were constructed,and respectively microinjected into the zebrafish embryo yolks.The subcellular localization of different genotypes of hURAT1 was detected by confocal laser scanning microscope.Results Compared with wild type,the mutant recombinant plasmid transcribed two types of mRNA spliceosome,the wild type and the exon 5-null type.The hURAT1 wild type protein was prominent localized on cell membrane,while the mutant type and exon 5-null hURAT1 proteins were distributed uniform in the cytoplasm but not on the cell membrane.Conclusion The hURAT1 variant + 11 G ＞ A resulted in an alternative splicing of hURAT1 mRNA-exon 5-null type.Its protein product exhibited a different subcellular localization compared with that of wild type.

Objectives To observe and quantify the intraepidermal and papillary dermal nerve fibers,and the contact between intraepidermal nerve fibers and Langerhans cells in the lesional skin of pso-riasis vulgaris.Methods The nerve fibers and Langerhans cells were analyzed with immunohistochemical LAB-SA method,double-labelled immunofluorescence and confocal laser scanning microscopy in28biopsies of lesional skin taken from psoriatic patients and17normal controls.Results The length of nerve fibers was significantly longer in psoriatic lesions than that in normal controls(t =4.09,P

A) in COL1A1 gene resulting in OI in a Chinese family. The detailed molecular and clinical features will be useful for extending the evidence for genetic and phenotypic heterogeneity in OI and exploring the phenotype-genotype correlations in OI.

Objective To investigate the level of professional commitment of student nurses,and explore the impact of student nurses' role conflict and role ambiguity on their professional commitment.Methods From May to June 2014,totally 320 student nurses from a third-level hospital in Tianjin were recruited in this study.And Role Stress Scale and Nursing Professional Commitment Scale were used in the investigation.Results The total score of role stress of student nurses was (44.29±5.53) scores,and the total score of professional commitment of student nurses was (86.12±14.14) scores.Pearson correlation analysis and multiple linear regression analysis showed that student nurses' role conflict was positively correlated with professional commitment,but their role ambiguity was negatively correlated with professional commitment.Conclusion School and hospital managers should adopt effective measures to relieve student nurses' role ambiguity and guide the correct understanding of role conflict to maintain a stable nursing team.

In order to understand metabolic functions essential for methane assimilation, we investigate dribulose monophosphate pathway and adjacent pathways in gammaproteobacterial Methylomicrobium alcaliphilum 20Z by using combined approaches of RNA-seq, LC-MS, and 13C-labeled techniques. The absolute quantification of metabolome showed that the concentrations of intermediates, such as glucose-6-phosphate and 2-dehydro-3-deoxy-phosphogluconate, involved in Entner-Doudoroff (EDD) pathway were (150.95 +/- 28.75) micromol/L and below the limit of detection of mass spectrometry. In contrast, fructose-1, 6-bisphosphate, glyceraldehyde-3-phosphate/dihydroxyacetone and phosphoenolpyruvate in Embden-Meyerhof-Parnas (EMP) pathway had significantly higher concentrations with (1 142.02 +/- 302.88) micromol/L, (1 866.76 +/- 388.55) micromol/L and (3 067.57 +/- 898.13) micromol/L, respectively. 13C-labeling experiment further indicated that the enrichment of [3-13C1]-pyruvate involved in EMP pathway was 4-6 fold higher than [1,13C1]-pyruvate in EDD pathway in a dynamic course. Moreover, gene expression profile showed that the expression levels of genes in EMP pathway (e.g. fbaA, tpiA, gap and pykA) were 2 479.2, 2 493.9, 2 274.6 and 1 846.0, respectively, but gene expressionlevels in EDD pathway (e.g. pgi, eda and edd) were only 263.8, 341.2 and 225.4, respectively. Overall our current results demonstrated that EMP pathway was the main route for methane assimilation in M. alcaliphilum 20Z. This discovery challenged our understanding of methane assimilation pathway in gammaproteobacterial methanotrophic bacteria, and further provided an important insight for efficient methane biocatalysis in the future.
Glycolysis ; Industrial Microbiology ; Methane ; metabolism ; Methylococcaceae ; metabolism ; Pyruvic Acid ; metabolism

Objective To explore the prevalence of self reposed mania/hypomania symptoms of depressive disorders and the difference between the two self-rating symptoms questionnaires in setting of psychiatric clinic of a general hospital.Methods 102 outpatients who were diagnosed with depressive disorders by ICD-10 in department of psychiatry of Tongji Hospital of Tongji University were continuously investigated and fulfilled the Chinese Version mood disorder questionnaire(CV-MDQ)and the Chinese Version 32 items hypomania check list(CVHCL-32).The positive mania symptoms were elevated with at least seven positive mania items reported by the CVMDQ.The positive hypomania symptoms were elevated with at least fourteen positive hypomania items reported by the CV-HCL-32.Results The internal consistency(Cronbach alpha)of the CV-MDQ was 0.808(95% CI=0.767～0.845,P<0.01).The internal consistency(Cmnbach alpha) of the CV-HCL-32 was 0.916(95% CI=0.898～0.930,P<0.01).11 patients(10.8%) reported positive mania symptoms by the CV-MDQ.14 patients (13.7%)had been reported positive hypomania symptoms through the CV-HCL-32.The ability of discriminating mania or hypomania between the two scales was significantly different(Kappa=0.227,P<0.05).Compared to the patients who were reported negative hypomania symptoms by the CV-HCL-32.the 11 patients with positive hypomania symptoms by the CV-HCL-32 had much earlier age in first episode(35.0 vs 50.5,z=-2.065,P<0.05),much longer months in total disease course(60.0 vs 22.0,z=-2.102,P<0.05)and present episode (12.0 vs 6.0,z=-2.180,P<0.05),and much higher frequency of relapse(2.5 vs 1.0,z=-2.168,P<0.05),but no significant differences at age,gender and education.No significant differences appeared between CV-MDQ positive and negative group.Conclusion Mania or hypomania symptoms may be screened by CV-MDQ and CV-HCL-32 from the outpatients with depressive disorders who are diagnosed by ICD-10 in general hospital.whether CV-HCL-32 is superior to CV-MDQ when screening bipolar Ⅱ disorder is worthly further study.

Objective Percheron artery is an uncommon anatomic variant. Percheron artery infarction with unilateral embryonic posterior cerebral artery ( PCA ) was rarely reported.The aim of this study was to characterize the clinical and imaging patterns of Percheron artery infarction with the unilateral embryonic PCA for early diagnosis and treatment.MethodsClinical and imaging data of 2 patients with Percheron artery infarction were reviewed retrospectively.ResultsTwo patients presented acute coma and one had paroxysmal blurred before coma.On neurological examinations,one patient had vertical gaze palsy besides two were unconsciousness. MRI showed symmetrical high signal intensity on diffusion weighed imaging (DWI)in bilateral paramedian thalami in two patients and a distinct pattern of V-shaped hyperintensity on DWI andFLAIR was present on the midbrain in one patient. Digital subtraction angiography and magnetic resonance angiography demonstrated unilateral embryonic PCA in two patients.ConclusionsThe classical clinical symptoms,symmetrical high signal in bilateral paramedian thalami and V-shaped sign in midbrain on DWI can improve recognition,evaluation and management of Percheron artery infarction.The unilateral embryonic PCA may be underlying risk factor of Percheron artery infarction.

Carcinoma, Non-Small-Cell Lung ; metabolism ; pathology ; Cell Membrane ; metabolism ; Cell Nucleus ; metabolism ; Cytoplasm ; metabolism ; Humans ; Lung Neoplasms ; metabolism ; pathology ; Signal Transduction ; TCF Transcription Factors ; metabolism ; Transcription Factor 7-Like 2 Protein ; Wnt Proteins ; physiology ; beta Catenin ; metabolism

Objective: To report a case of azoospermia with a karyotype of 45,X,der(Y)t(Y;13)(q11.2;q12),-13,accompanied with slight bilateral gynecomastia and multiple nodules.Methods: The karyotype was identified by karyotyping and FISH,and the breakpoints of the Y chromosome and the copy number of the BRCA2 gene in 13q12 determined by PCR-STS and DNA polymorphic analysis.The testis and nodule tissues of the patient were obtained for biopsy.Results: FISH confirmed SRY and centromere of the Y chromosome on the questionable 13 chromosome and the karyotype to be 45,X,der(Y)t(Y;13)(q11.1;q12),-13.ish der(Y)(SRY+,DYZ3+,wcp13+).PCR-STS showed the deletion of regions AZFa,b and C,with a breakpoint located inYq11.1 below sY82.No deletion of the BRCA2 gene was observed.The patient was diagnosed with Sertoli cell-only syndrome by testicular biopsy and with angiolipomata by pathological examination of the nodule tissue.Conclusion: The patient's phenotype of complete masculinization could be attributed to presence of the SRY gene,and his azoospermia with small testis to the absence of a fragment from Yq11.1 to Yqter.However,the molecular mechanism of angiolipoma remains unknown.

Objective To report a familial dentinogenesis imperfecta type Ⅱ (DGI type Ⅱ) with a novel splicing mutation in DSPP (dentin sialophosphoprotein) gene.Methods Based on the result of linkage analysis performed previously to map the candidate gene DSPP in the family, the promoter,the first four exons and exon-intron boundaries of DSPP were directly sequenced for the members of the DGI type Ⅱ family. Denaturing high performance liquid chromatography (DHPLC) analysis was performed to confirm the results of sequencing.Results A novel splicing mutation of 23 bp deletion in intron 2 of DSPP gene was identified by DNA sequence analysis. The mutation changed acceptor site sequence from CAG to AAG, and might result in functional abolition of possible branch point site in intron 2. DHPLC result was consistent with that of sequencing. The mutation may be identified in all affected individuals, but not found in normal members of the family and 50 controls.Conclusion These results suggest the deleted mutation of DSPP gene causes DGI type Ⅱ in the family. The mutation has not been reported before.