BACKGROUNDTourette syndrome (TS) is a complex, heterozygous genetic disorder. The number of molecular genetic studies have investigated several candidate genes, particularly those implicated in the dopamine system. The dopamine D3 receptor (DRD3) gene has been considered as a candidate gene in TS. There was not any report about the association study of TS and DRD3 gene in Han Chinese population. We combined a case-control genetic association analysis and nuclear pedigrees transmission disequilibrium test (TDT) analysis to investigate the association between DRD3 gene rs6280 single nucleotide polymorphisms (SNPs) and TS in a Han Chinese population.

METHODSA total of 160 TS patients was diagnosed by the diagnostic criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. The DRD3 gene rs6280 SNPs were genotyped by TaqMan SNP genotyping assay technique in all subjects. We used a case-control genetic association analysis to compare the difference in genotype and allele frequencies between 160 TS patients and 90 healthy controls. At the same time, we used TDT analysis to identify the DRD3 gene rs6280 transmission disequilibrium among 101 nuclear pedigrees.

RESULTSThe genotype and allele frequency of DRD3 gene rs6280 SNPs had no statistical difference between control group (90) and TS group (160) (χ2 = 3.647, P = 0.161; χ2 = 0.643, P = 0.423) using Chi-squared test. At the basis of the 101 nuclear pedigrees, TDT analysis showed no transmission disequilibrium of DRD3 gene rs6280 SNPs (χ2 = 0; P = 1).

CONCLUSIONSOur findings provide no evidence for an association between DRD3 gene rs6280 and TS in the Han Chinese population.

Adolescent ; Child ; Female ; Gene Frequency ; genetics ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Male ; Polymorphism, Single Nucleotide ; genetics ; Receptors, Dopamine D3 ; genetics ; Tourette Syndrome ; etiology

OBJECTIVETo compare the effects of mannitol and hypertonic saline (HS) in treatment of intracranial hypertension (ICH) of rabbits.

METHODSThe animal mode of ICH was established by perfusing artificial cerebrospinal fluids (aCSF) with controlled pressure into the cerebral ventricles of rabbits. The mean arterial pressure, respiratory rate, tidal volume, perfusion rate of aCSF and water content of cerebrum were investigated in rabbits with ICH after a single bolus of 20% mannitol (5 ml/kg), 7.5% HS (2.2 ml/kg) or 23.4% HS (2.2 ml/kg).

RESULTSAfter the intracranial pressure was elevated from 15 cmH₂O to 75 cmH₂O, the mean arterial pressure was increased and the tidal volume was decreased. After treatment by 20% mannitol, 7.5% HS or 23.4% HS, the increased percentage of mean arterial pressure and the decreased percentage of tidal volume were similar to the changes in control group. However, the perfusion rate of CSF was increased and water content of cerebrum was decreased after treatment by either 20% mannitol or 23.4% HS, but not by 7.5% HS. No different effects were found between 20% mannitol and 23.4% HS.

CONCLUSIONWith the similar osmotic burden, 20% mannitol is more effective in treating ICH than 7.5% HS. With higher osmotic load, the efficacy of HS is enhanced, and 23.4% HS may be used as an alternative to mannitol in treatment of ICH.

Animals ; Disease Models, Animal ; Female ; Intracranial Hypertension ; drug therapy ; Male ; Mannitol ; administration & dosage ; therapeutic use ; Rabbits ; Saline Solution, Hypertonic ; administration & dosage ; therapeutic use

OBJECTIVETo investigate the therapeutic efficacy of interferon (IFN) therapy and risk of long-term administration for chronic hepatitis C (CHC) patients who cannot tolerate the standard treatment.

METHODSForty-six CHC patients who had proven intolerant to standard treatments were treated with low-dose IFN (non-pegylated IFN: 60 to 300MIU QOD, or pegylated IFN: 50 to 90 mug/w) plus ribavirin (RBV; 0.6g to 0.9 g/d) for 72 weeks.

RESULTSForty-three (93.5%) of the patients were able to tolerate the long-term treatment with low-dose IFN plus RBV. Only three patients experienced severe side effects (low white blood cell and platelet counts) that required treatment withdrawal. The virology response rates over treatment time were: rapid virologic response (RVR): 10.9%; early virus response (EVR): 30.4%; 24 week virologic response: 45.7%; and, 48 week virologic response: 47.8%. B-sonographic imaging revealed that three patients experienced improved liver morphology through the treatment course. The patients who achieved RVR, EVR, or 24 weeks virologic response also attained higher 48 week virologic response. The 24 week virologic response had the strongest predictive value of good prognosis.

CONCLUSIONSOur study demonstrated that long-term treatment with low-dose interferon plus ribavirin is effective for patients who are otherwise intolerant to standard treatment. In these patients, low-dose IFN plus RBV can obtain a high virologic response rate at 48 week. Furthermore, the 24 week virologic response is sufficiently predictive of treatment success. As with any treatment regimen, it is important for healthcare workers to monitor the disease status and potential side effects throughout the course of therapy.

Adult ; Antiviral Agents ; administration & dosage ; therapeutic use ; Female ; Hepacivirus ; Hepatitis C, Chronic ; drug therapy ; virology ; Humans ; Interferons ; administration & dosage ; therapeutic use ; Male ; Middle Aged ; Treatment Outcome

Seven compounds were isolated from the leaves of Panax japonicus var. major by chromatographic methods including silica gel, Sephadex LH-20, ODS and semi-preparative HPLC. Their structures were elucidated by their physical and chemical properties and spectral data analysis as 5, 7-dihydroxy-8-methoxyl flavone (1), ginsenoside Rs2 (2), quinquenoside R1 (3), ginsenoside Rs1 (4), notoginsenoside Fe (5), ginsenoside Rd2 (6) and gypenosiden IX (7). Among them, compound 1 was obtained from the Panax genus for the first time, and compounds 2-7 were isolated from this plant for the first time.
Chromatography, High Pressure Liquid ; Flavones ; analysis ; chemistry ; isolation & purification ; Ginsenosides ; analysis ; chemistry ; isolation & purification ; Magnetic Resonance Spectroscopy ; Panax ; chemistry ; Plant Leaves ; chemistry ; Spectrometry, Mass, Electrospray Ionization

Qi-Yu-San-Long decoction(QYSLD)is a traditional Chinese medicine that has been clinically used in the treatment of non-small-cell lung cancer(NSCLC)for more than 20 years.However,to date,metabolic-related studies on QYSLD have not been performed.In this study,a post-targeted screening strategy based on ultra-performance liquid chromatography coupled with quadrupole time-of-flight full infor-mation tandem mass spectrometry(UPLC-QTOF-MSE)was developed to identify QYSLD-related xeno-biotics in rat urine.The chemical compound database of QYSLD constituents was established from previous research,and metabolites related to these compounds were predicted in combination with their possible metabolic pathways.The metabolites were identified by extracted ion chromatograms using predicted m/z values as well as retention time,excimer ions,and fragmentation behavior.Overall,85 QYSLD-related xenobiotics(20 prototype compounds and 65 metabolites)were characterized from rat urine.The main metabolic reactions and elimination features of QYSLD included oxidation,reduction,decarboxylation,hydrolysis,demethylation,glucuronidation,sulfation,methylation,deglycosylation,acetylation,and associated combination reactions.Of the identified molecules,14 prototype compounds and 58 metabolites were slowly eliminated,thus accumulating in vivo over an extended period,while five prototypes and two metabolites were present in vivo for a short duration.Furthermore,one pro-totype and five metabolites underwent the process of"appearing-disappearing-reappearing"in vivo.Overall,the metabolic profile and characteristics of QYSLD in rat urine were determined,which is useful in elucidating the active components of the decoction in vivo,thus providing the basis for studying its mechanism of action.

Objective To explore the effect of early virtual reality training in the rehabilitation of stroke patients with hemiplegia.Methods From June 2015 to May 2016, 60 cases of stroke patients from the Department of Rehabilitation of the First Affiliated Hospital of Wenzhou Medical University were randomly divided into observation group and control group, 30 cases in each group. The patients of control group received routine rehabilitation training program, and patients of the observation group received routine rehabilitation and virtual reality training. The two groups were trained for 6 weeks. The walking function, activities of daily living and mental status of the patient before and after training were evaluated by functional ambulation category scale (FAC), modified Barthel index (MBI), hospital anxiety and depression scale (HAD).Results Before training, FAC, MBI and HAD scores had no significant difference between patients of two groups (P>0.05). After 6 weeks of training, the scores of FAC, MBI and HAD in the two groups were better than those before training (P<0.05); After training, except for HAD (D), the indexes in the observation group were better than those in the control group (P<0.05).Conclusions Early virtual reality training can effectively improve the walking function and activities of daily living in stroke patients with hemiplegia, and relieve the patients' unhealthy psychological emotion.

OBJECTIVESTo evaluate and analyze the role of posterior ligament complex (PLC) in determining therapeutic principle for traumatic thoracic-lumbar fracture.

METHODSFrom August 2005 to May 2008, 60 patients (38 male, 22 female) who suffered from the traumatic thoracic-lumbar fracture were carried out posterior operations. According to the Magerl traumatic thoracic-lumbar fracture classification system, these cases were classified to subtype A, B and C. The average age was 34 years (21 - 65 years). Magnetic resonance imaging (MRI) scan, which including both T1/T2 weight and fat-stir sequence, as well as the MRI negative film reading technique were used to evaluate the state of PLC. Furthermore, related physical or neurological examinations (such as severe skin bruising and sinking, broadening spinous process gap and tenderness, spinal cord or nerve root injury) and another X-ray or CT reconstruction films were taken to evaluate the the state of PLC synthetically. Above-mentioned results were compared with the final exploration results during operation and some parameters were analyzed.

RESULTSThe sensitivity, specificity, accuracy, positive predictive value (PPV), negative predictive value (NPV), misdiagnosis rate and rate of missed diagnosis of these sixty patients were 85.3%, 80.8%, 83.3%, 85.3%, 80.8%, 19.2%, 14.7% respectively. After 13 cases of thoracic-lumbar fracture-dislocation were eliminated, the sensitivity, specificity, accuracy, PPV, NPV, misdiagnosis rate and rate of missed diagnosis of remaining 47 cases were 81.0%, 80.8%, 80.9%, 77.3%, 84.0%, 19.2%, 19.0% respectively. There were 5 cases with MRI negative results before operation but positive results during operation. Contrarily, 5 cases with MRI positive results before operation but negative results during operation occurred.

CONCLUSIONSMRI is a main means for evaluating the state of PLC. Although the MRI fat-stir sequence as well as the MRI negative film reading technique are adopted, the state of PLC can not be estimated exactly before operation (especially for those unfracture dislocation cases). In order to estimate the state of PLC exactly, the related local physical examination and image technology as well as the location of the abnormal image signal in MRI film and time of injury must be analyzed synthetically.

Adult ; Aged ; Female ; Humans ; Ligaments ; pathology ; Lumbar Vertebrae ; injuries ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Spinal Fractures ; pathology ; surgery ; Thoracic Vertebrae ; injuries ; Young Adult

We developed a method for detecting encephalitis and meningitis virus by using multiplex PCR combined with invasive reaction and a chromogenic reaction catalyzed by gold nanoparticles.Primers were designed based on the conservative regions of encephalitis and meningitis virus (Eastern equine encephalitis virus,EEEV;Western equine encephalomyelitis virus,WEEV;West Nile virus,WNV;Nipah virus,NiPA;Japanese encephalitis virus,JEV).Multiplex PCR system,invasive reaction and a chromogenic reaction catalyzed by gold nanoparticles were established to detect different encephalitis and meningitis virus in one reaction.Tick-borne encephalitis virus (TBEV),St Louis encephalitis virus (StLEV),Chikungunya virus (CHIKV) and Dengue virus(DV) were used to test its specificity.Quantitative RNA transcribed in vitro and PCR fragments were used to assess its sensitivity.Clinical specimens collected from JEV patients were detected by this method.A method for detecting encephalitis and meningitis virus by using multiplex PCR,invasive reaction and a chromogenic reaction catalyzed by gold nanoparticles were successfully established.This method can detect targeted pathogens specifically,and it has no cross reaction with TBEV,StLEV,CHIKV and DV.The detecting limitation for different targets was 103 copies/μL.Clinical samples were positive for JEV nucleic acids for above assay.The method presented here has characteristic of high specificity,sensitivity and throughput.The results can be observed by visual inspection.This method has broad application prospects in pathogen detection.

This study was aimed to investigate the clinical outcome of ricin-immunotoxin mediated T cell partially depleted HLA/MLC mismatched allogeneic hematopoietic stem cell transplantation. 13 patients with hematological malignancies were treated by ricin-immunotoxin mediated T cell partially depleted allogeneic hematopoietic stem cell transplantations from HLA/MLC mismatched donors, including 6 cases of CML in CP(1), 1 case of ALL in CR(1), 1 case of ALL in CR(2), 1 case of ALL in relapse, 2 cases of AML in CR(1), 1 case of AML in CR(2), 1 case of MDS-RAEBT-AML (M(4)) in CR(1). The results showed that 8 cases were engrafted successfully, 2 cases of them developed grade II acute GVHD and 2 cases developed grade III-IV acute GVHD. Within following-up of 8 - 90 months, 2 patients who experienced grade III-IV acute GVHD died early after transplantation; 1 patient died of late onset of infection; the other 5 patients survived free from diseases. After failure at first infusion, 4 patients were given reinfusion of peripheral blood hematopoietic stem cells from the same donor. 3 out of 4 cases failed to engraft and only one patient got engraftment but died of related complications of transplantation. One patient was performed a second transplantation from a syngeneic donor and survive free of disease until now. In conclusion, T cell partially depleted HLA/MLC mismatched allogeneic hematopoietic stem cell transplantation by ricin-immunotoxin decreases the occurrence of severe acute GVHD but with high risk of rejection, which clinical outcome still needs further evaluation.
Adolescent ; Adult ; Child ; Female ; Graft vs Host Disease ; epidemiology ; Hematopoiesis ; Hematopoietic Stem Cell Transplantation ; mortality ; Humans ; Immunotoxins ; pharmacology ; Lymphocyte Depletion ; methods ; Male ; Ricin ; pharmacology ; T-Lymphocytes ; drug effects ; Transplantation, Homologous

Objective To evaluate the diagnostic and prognostic significance of 43 fusion gene screening in combination with immunophenotyping and cytogenetics in childhood hematologic neoplasms. Methods A total of 176 children from Shanghai Children′s hospital with acute leukemia newly or recurrently diagnosed from May.2015 to Apr.2017 were enrolled into this study.There were 99 males and 77 females,aged between 4 months to 15 years old.Application of real-time fluorescent probe PCR assay for detection of 43 fusion genes including the common type of BCR-ABL,AML1-ETO, CBFβ-MYH11, MLL and RaRα related fusion genes in ALL(Acute lymphoblastic leukemia)and AML(Acute myeloid leukemia).Results The fusion genes were detected at positive rate of 28.4 %(50/176).The final diagnosis included 110 cases of ALL-B,11 cases of ALL-T and 46 cases of AML,the other 9 cases were as follows:1case of neuroblastoma,2 cases of NHL -B,1case of NHL -T,1case of AML transformed from CML,2 cases of M DS,1 case of CML and 1 case of anemia.Positive fusion gene of ALL -B(27/110, the positive rate of 24.5%),included:TEL-AML1 14 cases,E2A-PBX1 6,MLL-AF10 2 and MLL -AF4 2,MLL-AF9 1,MLL -ENL 1 and BCR-ABL 1 cases.ALL -T positive rate 27.3%(3/11):1 case with MLL-ENL and 2 cases of SIL -TAL1.In AML patients the positive rate was 37%(17/46), included AML-ETO 7,MLL -AF10 1, MLL -AF10 1, PML-RaRa 4, DCK -CAN 3and CBFB -MYH11 1 case respectively.The other included BCR-ABL 2 cases, E2A-PBX1 1 case.Conclusion The 43 fusion gene screening contribute to leukemia diagnosis and differential diagnosis, which helps to evaluate the risk stratification and prognosis effectively.