Objective To explore the difference of DISC1 gene polymorphism between schizophrenia patients and normal subjects,as well as the association of gene polymorphism with mRNA expression.methods 40 schizophrenia patients and 40 normal subjects were recruited randomly from southern region of Fujian,China.DISC1 mRNA level was assessed by RT-PCR and the genotype was evaluated by sequencing with the amplified PCR products from peripheral blood DNA.Result srs6675281 locus only found CC type,other types were not found.According to the genotyping Result ,the rs821616 locus has AA,AT and TT three types,but the genotype and allele frequency between the two groups were not significantly different (Genotype:x2=0.923,P=0.63;Allele:A>T,x2=0.656,P=0.418).As far as rs11122319 locus,AA,AG and GG three types were found in this study,there was no significant difference between patients and normal controls (Genotype:x2=3.922,P=0.141;Allele:A>G,x2=0.184,P=0.668).Subjects were divided into AA,AG,GG three types based on rs1417584 locus genotyping,however the genotypes and alleles of this locus between the two groups were significant difference (Genotype:x2=6.631,P=0.042;Allele:A>G,x2=4.592,P=0.032),and the DISC1 mRNA expression that corresponding to the genotype AG in patients and normal subjects was significantly different (t=3.916,P=0.004).Conclusion Based on these findings,rs1417584 locus may be implicated the expression and regulation of DISC1 gene,may be a pathogenic factor of schizophrenia and the genotype AG may be corresponding to a higher risk.

Adult ; Antineoplastic Agents ; adverse effects ; Chromosome Aberrations ; chemically induced ; DNA Damage ; Female ; Humans ; Micronucleus Tests ; Nursing Staff, Hospital ; Occupational Exposure

Objective To explore the effect of CYP2D6 gene polymorphism on blood concentration,therapeutic efficacy and adverse effects of anti-depression drug venlafaxine.Methods 69 cases of patients with depression were selected randomly from southern region of FuJian,China.The blood concentration of venlafaxine was detected by HPLC,and the CYP2D6 genotype was determined by sequencing with the amplified PCR products from peripheral blood DNA.The therapeutic efficacy and adverse effects of venlafaxine were evaluated by Hamilton depression scale(HAMD) and treatment emergent symptom scale(TESS) respectively.Results Subjects was divided into CC,CT,TT three groups based on rs16947 locus genotyping.The blood concentrations of venlafaxine were (157.35±15.63) ng/ml,(70.17±5.11) ng/ml,(115.72± 10.2) ng/ml respectively and there was no significant difference (F=1.257,P=0.301).The dose-corrected concentrations and normalized concentrations were not significantly different (F=1.683,1.547,P＞ 0.05).Similarly,the reduction rate of HAMD (CC:(40.6 ± 7.23) ％,CT:(51.7±7.09)％,TT:(42.8±14.1)％) and TESS scores (CC:1.3±0.21,CT:1.3±0.36,TT:1.2±0.28) were not significantly different either (P＞0.05).In 69 samples in this study,genotyping of rs3892097 locus only found GG type,and no further examination was performed.Genotyping divided rs1065852 locus into CC,CT,TT three groups.The blood concentrations of venlafaxine were (42.87±9.9) ng/ml,(64.25 ± 13.59) ng/ml,(181.56± 14.15) ng/ml respectively,and there was significant difference among the three groups (F=4.893,P=0.016).The dose-corrected concentrations and normalized concentrations were also significantly different (F=3.985,3.648,P＜0.05).The reduction rate of HAMD (CC:(42.6±8.23) ％,CT:(48.8± 10.8) ％,TT:(63.4±9.15) ％) was not significantly different (F=2.961,P=0.07).The difference of TESS scores was similar to that of HAMD reduction rate.Conclusion Among the 3 loci studied,only rs1065852 locus within CYP2D6 gene can affect its enzyme activity and then influence the therapeutic efficacy and adverse effects of venlafaxine.

Objective To analyze the etiology of pseudoachalasia.Methods Patients who were diagnosed as having pseudoachalasia in Endoscopy Center of The Affiliated Zhongshan Hospital of Fudan University from September 2010 to June 2015 were retrospectively analysed.Results A total of 12 patients were enrolled in this study,6 males and 6 females.The median age,median disease duration and median Eckcardt score was 54.5(24.0～71.0) years old,2.5(0.2～ 10.0) years and 4(3～9),respectively.Seven cases were caused by malignant tumors,2 had benign tumors,and 3 peptic stricture.Conclusion The most common cause of pseudoachalasia is malignant tumors.Accurate diagnosis relies on the comprehensive medical history and complete examinations.

Objectives The ferredoxins are iron-sulfur proteins, which function in electron transfer reactions in a variety of systems and participate in the activation of the antimicrobial agent metronidazole. The aim of this study is to clone and characterize ferredoxin genes of Trichomonas vaginalis. Methods A cDNA expression library was constructed with T. Vaginalis total RNA. Hundreds of cDNA clones were isolated and sequenced. Sequence analysis was performed using BLAST programs, ClustalW program, etc. Results One of the cDNA clones, which has homology with T.vaginalis ferredoxin, was further analyzed. This cDNA clone has an open reading frame of 312 base pairs. The deduced precursor protein contains 103 amino acid residues with a hydrogenosome targeting sequence (MLSQCSPLRF) at the N-terminal end. The primary sequence analysis revealed that this new ferredoxin (TvFd2) has a high homology (69% identity) to the previous reported T.vaginalis ferredoxin(TvFd). Interestingly, TvFd2 is homologous to both the two subclasses of (2Fe-2S) ferredoxins, the oxidase ferredoxins and the photosynthetic ferredoxins,but with low similarity. The conserved four-cysteine residues, which are predicted to form the iron-sulfur cluster,are arranged in a typical pattern of (2Fe-2S)ferredoxins(-C-X5-C-X2-C-Xn-C-). Conclusion These data show that TvFd2 is a putative new (2Fe-2S) ferredoxin of T.vaginalis. Its biological function remains to be studied.

0.05).RBC and haematocrit(HCT)were significantly decreased(P

0.99). DC: reproducibility was good for neutrophils, lymphocytes monocytes, eosinophils and basophils. Comparison of the results by instrument with manual for normal samples in morphology, the correlation was better for neutrophils, lymphocytes and eosinophils (r:0.968～0.983) ,good for monocytes(r=0.917), not good for basophils(r=0.659);The WBC scattergram would change and alarm flags would display when there are neutrophilic stab granulocytes, abnormal or atypical lymphocytes and immature cells in higher proportion.Conclusions The analyzer can be used to test blood cell parameters accurately and reliably. Its main performance indices accorded with the experimental requirements; The results were credible. It is necessary to check with microscopy for DC before reported when it were doubtted.

With the recognition of antineutrophil cytoplasmic antibodies (ANCA)-related vasculitis and widespread vaccination against viral hepatitis B, the prevalence of polyarteritis nodosa (PAN) varied considerably. In our study, patients diagnosed as polyarteritis nodasa (PAN)based on the 1990 American College of Rheumatology(ACR) criteria were reclassified using 2007 European Medicines Agency(EMA) algorithm modified by 2012 Chapel Hill Consensus Conference(CHCC) definitions, aiming to evaluate the new classification criteria for the diagnosis of PAN. A total of 113 PAN patients admitted to Peking Union Medical College Hospital from January 2002 to December 2018 were retrospectively analyzed, who were classified into three subtypes including 9 patients with cutaneous, 80 with classic and 24 Hepatitis B virus (HBV) associated PAN. All patients were reclassified according to 2007 EMA algorithm using CHCC 2012 definitions. As a result, 7 patients were diagnosed as microscopic polyangiitis(MPA) and 19 patients with unclassified vasculitis based on the new classification criteria. The diagnostic rate of PAN was gradually declined as the classification criteria of vasculitides was update. However, there are quite a few PAN patients in China, whom rheumatologists should pay attention to the early diagnosis and treatment.

Objective To evaluate the feasibility and accuracy of three-dimensional ultrasound-ultrasound (3DUS-US)automatic image fusion technology based on electromagnetic positioning.Methods The experimental phantom was constructed to acquire ultrasonic images by agarose gel and additives,which was used as the experimental object.3DUS imaging with free-hand and real-time ultrasound imaging automatic registrations were performed based on electromagnetic positioning.To investigate the effect of 3DUS-US image fusion under different scanning speed by free-hand,the fast and slow groups were designed. In addition,a junior operator and a senior operator performed 3DUS-US automatic registrations,and recorded the operating time and registration error,respectively.The repeatability between two operators was analyzed.Results The macroscopic appearance,stability and ultrasonic image of the phantom met the demand of this research.The success rate of 3DUS-US automatic image fusion technology was 100%(40/40).The slow group's registration error distance was (1 .44 ± 0.64)mm,which was obviously lower than the fast group's (2.56±0.53)mm,the difference was statistically significant (P <0.001).There were no statistically differences of the registration error and operating time between the two operators (P =0.508,P = 0.5 1 7 ).Conclusions The technology of 3DUS-US automatic registration based on electromagnetic positioning was feasible and accurate,which is worth applying into the clinical treatment.

Objective To analyze the clinical features,laboratory tests,treatments and outcome of patients with scleroderma renal crisis (SRC).Methods We retrospectively reviewed the clinical and laboratory data of 16 patients with scleroderma renal crisis in Peking Union Medical College Hospital from May 2004 to May 2013.The treatment and outcome of SRC patients were also retrospectively analyzed.Results There were a total of 16 SRC patients including 5 male patients and 11 females.The median age at SRC onset was (49.9 ± 12.3) years.It usually took 3.2 years from the diagnosis of systemic sclerosis(SSc) to SRC attack.Ten SRC patients belonged to diffuse cutaneous systemic sclerosis (dcSSc),and 6 patients were limited cutaneous systemic sclerosis (lcSSc).Among SRC patients,16/16 were negative of anticentromere antibodies(ACAs).All these 16 patients had hypertension and renal insufficiency,including 8 dialysis dependent after the onset of SRC and 7 with thrombotic microangiopathy.There were 3 patients receiving renal biopsy.The pathological findings were mainly summarized as intimal thickening and stenosis of renal arterioles.Among 13 patients with long-term followed-up,11 patients received angiotensin converting enzyme inhibitors(ACEI),5 patients died,2 patients were dialysis dependent.Only 1 patient stopped dialysis after the combination treatment of ACEI and endothelin receptor antagonist.Another 5 patients didn't need dialysis.Conclusion SRC usually occurred at the early course of SSc.dcSSc was more frequent than lcSSc.ACAs were rarely found in SRC patients.The immediate and sufficient use of ACEIs was still the cornerstone of SRC treatment.Future studies are needed to evaluate the efficacy of endothelin receptor antagonist in the treatment of SRC.