OBJECTIVETo detect hot point mutations of ATP7B gene in Hunan Han patients with Wilson' disease (WD).

METHODSThe genomic DNA of 22 WD patients was extracted and exons 5, 8, 12, 13 were amplified by PCR. Screening for the mutations was done by direct sequencing and analysed by BLAST.

RESULTSFifteen of the 22 patients were found with mutations. Ten heterozygous Arg778Leu (2273G --> T) mutations were found in exon 8, all of them were accompanied with 2250C --> G polymorphism (Leu770Leu). Seven patients were found with 2855G --> A (Arg952Lys) polymorphism (4 heterozygous and 3 homozygous), 3 of them had Arg778Leu mutation in exon 8 and one with heterozygous mutation Gly943Asp (2828G --> A) in exon 12 simultaneously. Only one patient was found with heterozygous Pro992Leu (2975C --> T) mutation in exon 13. No mutations were found in exon 5.

CONCLUSIONArg778Leu is the hot point mutation of ATP7B gene in Hunan Han patients with Wilson' disease while exon 5 is not.

Adenosine Triphosphatases ; genetics ; Adolescent ; Asian Continental Ancestry Group ; genetics ; Cation Transport Proteins ; genetics ; Child ; Copper-transporting ATPases ; DNA ; genetics ; DNA Mutational Analysis ; Exons ; Hepatolenticular Degeneration ; ethnology ; genetics ; Humans ; Mutation

OBJECTIVETo assess the influence of growth hormone receptor (GHR) Ex3 genotype on the short-term response to recombinant human growth hormone (rhGH) therapy in children with idiopathic short stature (ISS).

METHODSThirty prepubertal children with ISS receiving rhGH treatment [0.116±0.02 IU/(kg/d)] were randomly recruited. The GHR Ex3 locus was genotyped using a PCR multiplex assay. The growth data including growth velocity, height SDS for chronological age (HtSDSCA), height SDS for bone age (HtSDSBA) and predict final height were compared in children with different GHR genotypes 6 months after rhGH treatment.

RESULTSAfter 6 months of rhGH treatment, the children with ISS carrying d3/d3 alleles showed a significantly higher increment in growth velocity than those carrying fl/fl alleles (6.3±1.6 cm/year vs 3.4±0.5 cm/year; P<0.05).

CONCLUSIONSThe polymorphism in GHR Ex3 is associated with the responsiveness to rhGH treatment, showing that the growth velocity in ISS children with d3/d3 genotype is significantly higher than those with fl/fl genotype.

Child ; Exons ; Female ; Genotype ; Growth Disorders ; drug therapy ; genetics ; Human Growth Hormone ; therapeutic use ; Humans ; Male ; Polymorphism, Genetic ; Receptors, Somatotropin ; genetics

CD4-Positive T-Lymphocytes ; immunology ; CD56 Antigen ; analysis ; Cancer Vaccines ; immunology ; Carcinoma, Hepatocellular ; immunology ; Dendritic Cells ; immunology ; Humans ; Liver Neoplasms ; immunology ; T-Lymphocytes, Cytotoxic ; immunology

OBJECTIVETo investigate the role of reactive oxygen species (ROS) and the effect of vitamin E on proliferation of vascular smooth muscle cells (VSMCs) induced by homocysteine.

METHODSDNA synthesis in the VSMCs cells was measured using [3H]-thymidine incorporation assay, and the cell number determined by trypan blue method. The level of ROS in the cells was determined using DCF-DA as the fluorescence probe.

RESULTSHomocysteine promoted VSMC DNA synthesis, proliferation, and ROS production. Cysteine resulted in increased ROS production in VSMCs, but had no significant effect on DNA synthesis and cell proliferation. Catalase significantly inhibited ROS production induced by homocysteine, but did not significantly inhibited homocysteine-mediated proliferation of VSMCs. While alpha-tocopherol and beta-tocopherol both suppressed increased ROS production induced by homocysteine in VSMCs, only alpha-tocopherol significantly inhibited homocysteine-mediated VSMC proliferation.

CONCLUSIONROS is not associated with VSMC proliferation, and vitamin E-induced suppression of VSMC proliferation is probably related to protein kinase C inhibition.

Animals ; Antioxidants ; pharmacology ; Cell Proliferation ; drug effects ; Cells, Cultured ; Homocysteine ; pharmacology ; Muscle, Smooth ; cytology ; drug effects ; metabolism ; Muscle, Smooth, Vascular ; cytology ; drug effects ; metabolism ; Rats ; Reactive Oxygen Species ; metabolism ; Vitamin E ; pharmacology ; alpha-Tocopherol ; pharmacology ; beta-Tocopherol ; pharmacology

OBJECTIVETo find out the dominant diseases in the clinic of modern acupuncture.

METHODSBy means of bibliometrics, clinical acupuncture study literatures from 1978 to 2004, searched from CBM database, were sorted and counted to show the different clinical utilizing quantities and developing trends of different disease groups in the acupuncture clinic.

RESULTSObviously dominant type: nervous system diseases; mature type: motor system diseases; developing type: 3 kind of diseases including psychosis; premature type: diseases related with surgery; steady type: 3 kind of diseases including digestive system diseases (diseases of liver and gallbladder are not included); pre-developing diseases: 5 kind of diseases including otorhinolaryngologic diseases.

CONCLUSIONAmong all these types, obvious advantage type and mature type are the most distinguishing. Developing type has the most significant ascending trend. Premature type has relatively strong developing potentiality.

Acupuncture Therapy ; Bibliometrics ; Humans

Objective To launch systematic research on long-term asymptomatic hyperuricemia (HUA) from hemorheological viewpoint,so as to provide references for clinical treatment of asymptomatic HUA.Methods Twenty rats were randomly and evenly divided into normal control group and model group.The rats were intraperitoneally injected with 250 mg/(kg · d) oxonate for 8 weeks to induce the model of asymptomatic HUA.The blood samples were obtained to measure the serum uric acid,hemorheological parameters,oxidative and anti-oxidative indices.Results The aggregation index,haemolysis rate,serum xanthine oxidase (XOD),plasma fibrinogen and blood viscosity significantly increased,while the orientation index,electrophoresis rate,serum superoxide dismutase (SOD),activated partial thromboplastin time (APTT) and prothrombin time (PT) significantly induced.Conclusions The asymptomatic HUA can lead to more serious oxidative stress,deteriorate the hemorheological parameters of red blood cells in rats,and induce higher blood viscosity and coagulation status.The research findings indicate that asymptomatic HUA should be correctly understood and timely intervened in clinical diagnosis.

Gastrointestinal microbiota has an important impact on physiological functions of human body. In recent years,the importance of gastrointestinal microbiota in tumorigenesis has emerged. Aberrant location and proportion of microbiota can cause not only carcinogenesis of local epithelia,but also tumorigenesis in submucous tissues or even distant organs. Certain microbes can produce genotoxin or generate reactive oxygen species to cause DNA damage and affect DNA damage repair,which leads to genetic instability and induces cell transformation. Moreover,gastrointestinal microbiota is able to affect the function of host immune system and form an immunosuppressive microenvironment,while some other pathogenic bacteria can cause chronic inflammation and may be involved in tumor immune escape. Based on the above,gastrointestinal microbiota is oncogenic and closely linked to tumorigenesis.

BACKGROUNDDipeptidyl peptidase-IV (DPP-4) inhibitors are now used to improve postprandial glycemic control in type 2 diabetes. However, their effects on hepatic glucose production (HGP) in obesity are not clear. This study was designed to test the hypothesis that gluconeogenesis and HGP can be modulated by DPP-4 inhibitors in obesity.

METHODSSprague Dawley male rats were divided into four groups, each on a different diet: general rat chow, n = 10 (G); G + sitagliptin, n = 10; high fat chow (obesity), n = 10 (55% fat calories, HFO); HFO + sitagliptin, n = 10. After 10 weeks, the rats were fasted overnight and glucose metabolism was determined using 3-(3)H-glucose and (14)C-glycerol as tracers.

RESULTSGlycerol rate of appearance (P < 0.00001), plasma glycerol (P < 0.05) and free fatty acid (FFA) (P < 0.05) concentrations, and HGP (P < 0.05) were decreased in HFO + sitagliptin group compared with HFO group, but there was no significant difference between G and G + sitagliptin groups (P > 0.05). Gluconeogenesis in HFO group was five times of that in G rats (P < 0.01), but was significantly declined in HFO + sitagliptin group (P < 0.0001).

CONCLUSIONSGluconeogenesis and HGP were inhibited by sitagliptin in high fat-induced obese rats due to decreased glycerol availability, which was a result of reduced glycerol release from adipose tissues. The finding suggests that sitagliptin is potentially useful for controlling fasting glucose in obesity, thereby delaying or preventing the development of diabetes.

Animals ; Dipeptidyl-Peptidase IV Inhibitors ; therapeutic use ; Glucose ; metabolism ; Liver ; drug effects ; metabolism ; Male ; Obesity ; drug therapy ; metabolism ; Pyrazines ; therapeutic use ; Rats ; Rats, Sprague-Dawley ; Sitagliptin Phosphate ; Triazoles ; therapeutic use

The aim of the study was to determine the expression of cytidine deaminase (CDD) gene in bone marrow cells from patients with acute leukemia (AL) and evaluate the relationship between CDD expression and clinical feature. Semi-quantitative reverse transcription polymerase chain reaction (RT-PCR) was used for detection of expression level of CDD mRNA in bone marrow cells from 83 patients with acute leukemia and from 15 healthy peoples as control. CDD/beta-actin ratio >or= 0.5 was considered to be positive. The results showed that expression levels of CDD of 31 previously untreated patients were higher than those of 23 cases of AL in complete remission and of normal controls. Expression levels of CDD of 29 relapse/refractory patients were also higher than those of 23 AL patients in complete remission and of normal subjects. The expression levels of CDD in relapse/refractory ALL were higher than those in AML while expression levels of CDD were not correlated with the outcome of therapy. It is concluded that the level of CDD mRNA expression varies at the different stage of acute leukemia. The expression level of CDD seems not to be a prognostic factor.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Bone Marrow Cells ; enzymology ; Cytidine Deaminase ; genetics ; Female ; Gene Expression Regulation, Enzymologic ; Gene Expression Regulation, Neoplastic ; Humans ; Leukemia, Myeloid, Acute ; drug therapy ; enzymology ; genetics ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; drug therapy ; enzymology ; genetics ; RNA, Messenger ; genetics ; metabolism ; Remission Induction ; Reverse Transcriptase Polymerase Chain Reaction

Acetylcysteine ; pharmacology ; Adolescent ; Adult ; Aged ; Female ; Hepatitis, Viral, Human ; blood ; Humans ; Interleukin-18 ; blood ; Male ; Middle Aged