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.

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 investigate the effects of remote limb ischemic preconditioning (RLIP) on the lung injury in patients undergoing abdominal aortic aneurysm repair.Methods Sixty-two ASA Ⅱ or Ⅲ patients of both sexes,aged 54-72 yr,with body mass index 21-36 kg/m2,undergoing elective abdominal aortic aneurysm repair,were randomly divided to 2 groups ( n =31 each):control group (group C) and RLIP group.RLIP consisted of two 5-min cycles of left upper limb ischemia induced by a blood pressure cuff placed on the left upper arm and inflated to 200 mm Hg,with an intervening 5 min of reperfusion,during which time the cuff was deflated.RLIP was performed after anesthesia induction and before the start of surgery.Arterial and venous blood samples were taken at 10 min after intubation (T0),and 30 min and 4,8,12 and 24 h after aortic unclamping (T1-5) for blood gas analysis and determination of the concentrations of serum interleukin (IL)-6,tumor necrosis factor (TNF)-α,and plasma malondialdehyde (MDA) and superoxide dismutase (SOD) activity.The alveolar-arterial oxygen pressure difference (PA-aO2 ) and respiratory index (RI) were calculated.The peak airway pressure (Ppeak),plat airway pressure (Pplat) and positive end expiratory pressure (PEEP) were recorded at the same time points mentioned above to calculate dynamic lung compliance (Cd) and static lung compliance (Cs).The incidence of hypoxemia,extubation time and duration of stay in intensive care unit (IGU) were also recorded.Results Compared with group C,PA-aO2,RI and the concentration of IL-6 were significantly decreased at T3-5,Cs,Cd and SOD activity were significantly increased at T2-5,and the concentrations of TNF-α and MDA were significantly decreased at T2-5 in group RLIP ( P ＜ 0.05).Compared with group C,the incidence of hypoxemia was significantly decreased,and extubation time and duration of stay in ICU were significantly shortened in group RLIP ( P ＜ 0.05).Conclusion RLIP can reduce the lung injury through inhibition of the inflammatory response and lipid peroxidation in patients undergoing abdominal aortic aneurysm repair.

Objective To establish an isolation method for solid GTC in peripheral blood using EpCAM antibody-linked nanobeads and evaluate the sensitivity of the method and its application significance. Methods Five, ten, twenty, fifty and one hundred MCF7 (breast cancer), KYSE70 (esophageal cancer), BxPC-3 (pancreatic cancer) and 9811P (stomach cancer) cells were added into 7. 5 ml erythrocyte lysed peripheral blood obtained from healthy volunteers respectively. EpCAM antibodylinked nanobeads were used to enrich cancer cells. The recovery rates of the in vitro added cancer cells were evaluated by fluorescence microscopy. Then, the untreated thirty cases of esophageal cancer (six cases at stage Ⅰ and Ⅱ, twenty-four cases at stage Ⅲ and Ⅳ), thirty-five cases of breast cancer (fifteen cases at stage Ⅰ and Ⅱ , twenty cases at stage Ⅲ and Ⅳ), thirty cases of pancreatic cancer (five cases at stage Ⅰ and Ⅱ , twenty-five cases at stage Ⅲ and Ⅳ), thirty-three gastric cancer (thirteen cases for stage Ⅰ and Ⅱ ,twenty cases at stage Ⅲ and Ⅳ) were enrolled to enrich the peripheral blood CTC. Thirty healthy volunteers and thirty gastritis patients served as two groups of control. Meanwhile the enriched CTC was identified by IF and HE staining. FISH was used to analyze the copy number of chromosome 8 and chromosome 20 in two hundred esophageal cancer, breast cancer, pancreatic caner and gastric cancer CTC. Results After DAPI staining and mixing with 7.5 ml peripheral blood from healthy donors, the average cell recovery rates of KYSE70, MCF7, BxPC-3 and 9811P cells evaluated under fluorescence microscope were 87%, 87%, 86% and 88% (within group), and the recovery rates of 5 gradient dilution levels were 88%, 85%, 87%, 88% and 87% (intergroup). With a high sensitivity, this method was able to isolate one cancer cell in 107 white blood cells of peripheral blood. The positive rates of more than 2 CTC in the peripheral blood detected by this method were 50% (15/30) of esophageal cancer, 63% (22/35) of breast cancer, 70% (21/30) of pancreatic cancer and 61% (20/33) gastric cancer patients respectively,but no CTC was detected in the peripheral blood of healthy volunteers and gastritis patients (P = 0. 000).The aneusomy of chromosome 8 and chromosome 20 were found in 80% esophageal cancer, 75% breast cancer, 65% pancreatic cancer and 59% gastric cancer. Conclusions The CTC isolation technique with EpCAM antibody-linked nanobeads is sensitive and accurate. The aneusomy of chromosome 8 and 20 is frequent in CTC from esophageal cancer, breast cancer, pancreatic cancer and gastric cancer.

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 assess the safety and effectiveness of artificial ascites assisted thermal ablation for hepatic tumors adjacent to the gastrointestinal tract in patients with a history of abdominal surgery . Methods Thirty‐two patients (33 lesions located adjacent to the gastrointestinal tract) with a history of abdominal surgery were included in the study . Method ① :normal saline was injected into abdominal cavity to form water insulation band between liver and gastrointestinal tract . Method② :normal saline was injected with appropriate pressure to form local water insulation band between the liver and gastrointestinal tract . Method③ :normal saline was injected continuously at the interval between liver and gastrointestinal tract to flush away heat energy caused by ablation . All the patients were checked for gastrointestinal tract injury after ablation . During one month after ablation ,CT /MR was performed to evaluate whether the lesions were completely ablated . Results Respectively ,the numbers of lesion received method ① ,② and ③ were 27(81 .8% ) ,4(12 .1% ) and 2(6 .1% ) ,while the usage of normal saline were 400~2 000 ml ,600~800 ml and 1 000~1 500 ml . No gastrointestinal tract injury occurred . CT/MR scan during one month after ablation showed that all the 33 lesions had been completely ablated . Conclusions In patients with a history of abdominal surgery ,artificial ascites is a safe and effective method in assistance of thermal ablation for hepatic tumors adjacent to the gastrointestinal tract .

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.