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

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.

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

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.

OBJECTIVETo investigate the efficacy and adverse reaction of bortezomib plus chemotherapy with or without stem cell transplantation (SCT) for treatment of multiple myeloma (MM).

METHODSThirty-one MM patients were treated with bortezomib plus dexamethasone or thalidomide or DTPACE, followed by SCT. Response to bortezomib was evaluated according to the European Blood and Marrow Transplantation (EBMT) criteria. Adverse events were graded according to the WHO criteria.

RESULTS1) 5 discontinued the bortezomib therapy because of acute renal failure or acute tumor lysis syndrome and 3 died. In 26 evaluable patients received 99 courses of therapy. The overall response rate (ORR) to bortezomib was 80.8%, and was 100.0% in 15 newly diagnosed patients and 54.6% in 11 relapsed/refractory patients. All of the 6 newly diagnosed patients treated with bortezomib plus DTPACE followed by SCT achieved CR. 2) In 7 newly diagnosed patients completed 8 cycles bortezomib treatment, the diseases were improved more and more with the courses of treatment. Chromosome 13 deletion did not exert a negative impact on response. 3) 6 of 7 patients completed 8 cycles treatment without SCT relapsed in 1-3 month after discontinued therapy; only 1 of 6 such patients received SCT relapsed with the rest keeping on CR at 6-11 month follow-up. 4) The most common adverse events were 1-2 grade and tolerable 3 patients had to reduce the bortezomib dosage because of peripheral neuropathy or sinus bradycardia.

CONCLUSIONBortezomib in combination with chemotherapy with or without SCT is an effective therapy with manageable toxicities for MM patients.

Adult ; Aged ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Boronic Acids ; administration & dosage ; Bortezomib ; Dexamethasone ; administration & dosage ; Female ; Follow-Up Studies ; Hematopoietic Stem Cell Transplantation ; Humans ; Male ; Middle Aged ; Multiple Myeloma ; drug therapy ; surgery ; therapy ; Pyrazines ; administration & dosage ; Thalidomide ; administration & dosage ; Transplantation, Autologous ; Treatment Outcome

OBJECTIVETo analyze the clinical and laboratory features of chronic lymphocytic leukemia (CLL).

METHODSRetrospective investigation of 263 patients with CLL in our hospital between Feb. 2000 and Jan. 2007.

RESULTSThe median age was 60 years with male/female ratio of 2.17 : 1. Patients who were asymptomatic at diagnosis (35.4%) had low Rai grades. Fatigue and lymphadenopathy (54.8%) were the most common features at presentation. Infections, connective tissue diseases and secondary tumors frequently occurred in CLL. WBC counts were between (10 - 100) x 10(9)/L, with lymphocytes percentages more than 0.50 in 97.1% patients. Bone marrow was normal- to hyper-cellularity with lymphocytes percentages more than 0.300 in 99.4% patients. Diffuse infiltrations in bone marrow section were found in 72.2% patients. There were lower CD5 (85.1%) and higher CD25 (78.9%) positivities in the present series as compared with that in other reports. Hypogammaglobulinemia, especially hypo-IgM, usually occurred. Chromosome abnormality were rarely found by routine chromosome examination.

CONCLUSIONSThere were some clinical and laboratory characteristics different from that of abroad data. Further exploration of new markers is required for prognosis prediction and treatment choice.

Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell ; genetics ; pathology ; Male ; Middle Aged ; Retrospective Studies

OBJECTIVETo evaluate the feasibility and the results of the procedure of maxillomandibular advancement combined with uvulopalatopharyngoplasty for the treatment of obstructive sleep apnea hypopnea syndrome (OSAHS).

METHODSNine cases of obese patients with severe OSAHS [age (47.8 +/- 9.7); body mass index (BMI) (35.3 +/- 2.5) kg/m(2); apnea and hypopnea index (AHI) (88.7 +/- 6.7) per hour] underwent the procedure of maxillomandibular advancement (MMA) combined with uvulopalatopharyngoplasty (UPPP). The patients were monitored by polysomnography (PSG) before operation and 3, 6, 12 months after operation, and cephalometric analysis and velopharyngeal closure function were evaluated at the same time.

RESULTSThe maxilla was advanced by (8.3 +/- 1.3) mm and the mandible and chin were advanced by (23.0 +/- 2.2) mm. AHI was (2.1 +/- 1.1) per hour post-operation. All patients had no speaking problem and swallowing difficulty and had a good appearance and occlusions. The OSAHS in this group of patients was cured.

CONCLUSIONSGood short-term effects were observed with UPPP and MMA in the treatment of obese patients with severe OSAHS. It did not cause the velopharyngeal closure insufficiency and maxillary necrosis. A long-term follow-up is needed.

Adult ; Follow-Up Studies ; Humans ; Male ; Mandibular Advancement ; methods ; Middle Aged ; Obesity ; complications ; surgery ; Osteotomy, Le Fort ; Palate, Soft ; surgery ; Pharyngeal Muscles ; surgery ; Sleep Apnea, Obstructive ; complications ; surgery ; Treatment Outcome ; Uvula ; surgery