Objective The aim of this study was to establish a new method for genotyping ATP7B Arg778Leu gene mutation that does not require RFLP PCR or sequencing.Method 4-primer amplification refractory mutation system (ARMS)-PCR was performed to screen the Arg778Leu mutation in 47 unrelated Wilson's disease (WD) patients and 30 unrelated healthy controls.Direct sequencing was used to confirm the specific amplification products.Results PCR products were visualized on agarose gel electrophoresis.Among the 47 WD patients,4 were homozygous and 14 were heterozygous for this mutation.The total mutation rate was 38.3% (18/47).The results of direct sequencing completely consisted with the results of 4-primer ARMS-PCR.Conclusions The ATP7B Arg778Leu gene mutation is a hot spot for the research of Chinese WD patients.4-primer ARMS-PCR is a fast convenient and accurate method for typing mutation in high throughput population screening.This approach can be used to detect other point mutations.

Objective To investigate the linkage between the mutation of IL 4R ? chain gene and susceptibility of asthma and atopy in Wuhan. Methods Thirty five samples from asthmatic children,twenty five samples from adult patients with asthma, twenty samples from health adult and children respectively, were analyzed. A coding region 1205 1928 of IL 4R ? chain gene was detected by reverse transcription polymerase chain reaction/Single Strand conformation polymorphism/Sequence. Result 57.8% cases from asthmatic children, one polymorphism (1902 A→G), were found exist in the IL 4R ? chain gene and only 8% cases from asthmatic adults and 5% cases from control have this mutation. Conclusion The SNP of IL 4R ? chain coding area 1902 correlates with susceptibility of asthma in Wuhan asthmatic children (? 2=12.54, P 0.05, ?=0.05). There may be another mutations in IL 4R ? chain coding area except 1902 or another changes in other gene related with allergy.

BACKGROUND:Pathological examination and MRI have been widely used in clinic, but their combination is rarely reported in discrimination of early spine infections.
OBJECTIVE:To determine the accuracy of pathology and MRI for discrimination between early pyogenic spondylitis and brucella spondylitis.
METHODS:Twenty-two patients with pyogenic spondylitis and 20 patients with brucella spondylitis who had CT-guided percutaneous biopsy and MRI of the spine were retrospectively reviewed. Pathological observations included structure and activity of bone lesions, tissue cells and their main components;MRI observations included signal and sign changes at lesion sites. Statistical analysis was performed with the chi-square test.
RESULTS AND CONCLUSION:The patients with pyogenic spondylitis had a significantly higher incidence of pathological and MRI findings as fol ows (P<0.05):neutrophil infiltration;intervertebral disc abnormal signal, location of vertebral body lesions anterior+posterior, obviously shape change in the vertebral body, paraspinal abnormal signal, presence of intraosseous or paraspinal abscess. Pathological and MRI examination was accurate for early differentiation of pyogenic spondylitis from brucella spondylitis.

BACKGROUND:The infection after spinal internal fixation was its serious complications. A number of studies have shown that erythrocyte sedimentation rate and C-reactive protein are of great importance in judging infections. OBJECTIVE:To analyze the trend of change of erythrocyte sedimentation rate and C-reactive protein for patients without infection after the cervical fixation. METHODS:Total y 56 patients, who underwent cervical fixation from October 2013 to July 2014, were retrospectively analyzed, and then divided into anterior cervical group (n=29) and posterior cervical group (n=27). Patients in the anterior cervical group underwent anterior cervical decompression bone graft internal fixation. Patients in the posterior cervical group underwent posterior cervical unilateral open door decompression internal fixation. The peripheral blood was col ected before fixation and at the early morning of the 1, 3, 6, 9 days after fixation. Erythrocyte sedimentation rate and C-reactive protein values were determined. The fol ow-up of patients was more than one year. Signs of infection did not appear. RESULTS AND CONCLUSION:(1) General rule:After the cervical fixation, the erythrocyte sedimentation rate was increased significantly and reached a peak on postoperative day 6. The peak level gradual y decreased but has not returned to normal at the 9 postoperative days. The C-reactive protein increased significantly on the first postoperative day and reached a peak on postoperative day 3. The peak level rapidly decreased but has not returned to normal at the 9 postoperative days. The level of erythrocyte sedimentation rate of patients in the posterior cervical group was significantly higher than that in the anterior cervical group at 3, 6 and 9 days after internal fixation (P<0.05). There was no significant difference in the C-reactive protein between these two groups (P>0.05). (2) These results demonstrate that C-reactive protein is an important indicator of monitoring the inflammatory response of patients after cervical internal fixation, which was conductive to the judgment of early infection after internal fixation. The abnormal inflammatory indices of erythrocyte sedimentation rate and C-reactive protein do not suggest a presence of blade infection after internal fixation. C-reactive protein can reach the peak at 3 days after fixation. It is recommended to check blood at 2 and 3 days. If there is no apparent rebound, then the possibility of infection is smal . It may indicate the presence of infection if the inflammatory indices increased again or decreased slowly after the decrease.

AIM: To investigate the linkage between the polymorphism of -109 and Glu237 in the high-affinity IgE receptor?(Fc?RⅠ?) gene and susceptibilty of allergic asthma in adults in a Chinese population. METHODS: Allergic asthma sample in adult and age-and sex-matched control were studied. A-109C/T and a coding variant Glu237Gly in Fc?RⅠ? were detected with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: (1)The genotype frequencies were 0.415 for -109T/T, 0.491 for-109T/C and 0.094 for -109C/C in allergic asthma in adults. No significant difference in the distribution of-109C/T polymorphism was found between allergic asthma adult subjects and healthy control subjects. However, a homozygosity for the-109T allele was associated with increased total plasma IgE levels in subjects with allergic asthma (F=7.213, P

AIM: To determine whether interleukin 4 and interleukin 4 receptor ? chain are associated with allergic asthma in children and to study the impact of such polymorphism upon plasma IgE.METHODS: Two polymorphism sites of IL-4 and IL-4R were studied by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).RESULTS: (1)The results showed that the IL-4 promoter-589 was not associated with children allergic asthma, however, the IL-4R ? chain 576RR genotype and R allele were significantly increased in the subjects with asthma in children compared with age-matched control subjects (?2=11.84, P

AIM: To study the effects of dexamethasone (DXM) on intracellular expression of TH1/TH2 cytokines and the mechanism of that during the development of asthma. METHODS: Eighteen BALB/c mice were divided into 3 groups at random: control group, asthma group, and DXM treated group, with 6 mice in each. The expressions of T-box expressed in T cells (T-bet) and GATA-binding protein-3 (GATA-3) in lung tissue were detected by Western blotting. The expressions of intracellular cytokines interleukin-4 and interferon-? in CD4+ T cell were measured by flowcytometry.RESULTS: The results of flow cytometry indicated that the ratio of intracellular cytokines IL-4/IFN-? in CD4+ T cells in asthma group was much higher than that in control group (P

BACKGROUND:The reasons for spinal imbalance include spinal deformity, spinal degenerative disease osteoporotic vertebral compression fractures. We believe that the power factor (back muscle) plays a key role in spinal sagittal imbalance. OBJECTIVE:To analyze the reasons for spinal sagittal imbalance by observing clinical manifestations and therapeutic outcomes in patients with osteoporotic vertebral compression fractures. METHODS:A total of 41 patients with osteoporotic compression fractures combined with spinal sagittal imbalance were retrospectively analyzed from January 2012 to May 2013. Al patients were subjected to percutaneous bal oon vertebroplasty under local anesthesia. Before treatment, they received bone density, standing ful-spine lateral X-ray, CT and MR imaging with injured vertebrae as the center. Using standing ful-spine radiographs, the height of anterior border of the injured vertebrae, Cobb angle of kyphosis and improved angle, wedging angle of the injured vertebrae and improved angle were measured. The patients underwent weight loading test and walking test. Preoperative and postoperative data were compared. RESULTS AND CONCLUSION:The patients affected spinal sagittal imbalance symptoms, so the walking distance was significantly shorter than that postoperatively (P<0.05). Moreover, the time of weight loading test was significantly shorter than that postoperatively (P<0.05). In standing ful-spine radiographs, the average difference of Cobb angle was (10.01±0.76)°. The mean difference of vertebral wedging improvement was (4.84±0.40)° (P<0.05). Al patients were fol owed up. Low back pain and sagittal imbalance symptoms were relieved. No severe complications appeared after percutaneous bal oon vertebroplasty. Results indicated that patients with osteoporosis compression fractures can affect the symptoms of spinal sagittal imbalance, which is not only induced by wedging of the injured vertebra. In addition, after percutaneous bal oon vertebroplasty, imbalance symptoms are apparently improved, suggesting that back pain after spinal fracture limits back muscle strength and is an important cause for spinal sagittal imbalance.

The relationship between 3 polymorphisms sites [interleulin-4 (IL-4), IL-4 receptor (IL-4R) alpha chain and activation-induced cytidine deaminase (AICDA)] and adult allergic asthma in China was studied. By using case-control method, DNA and clinical data were obtained from allergic asthmatic patients and compared with those in the control subjects. The subjects were genotyped for the IL-4 C-589T promoter polymorphism, the IL-4R alpha chain Q576R and the AICDA C8408T by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The results showed that the IL-4 C-589T was not associated with adult allergic asthma in China. However, the IL-4R alpha chain 576R/R and AICDA 8408T/T frequency was significantly increased in allergic asthma group as compared with that in the control group [odd ratio (OR) = 3.797 and 9.127, respectively; P < 0.01)] and was correlated with the increased plasma total IgE. These data suggested that the IL-4R alpha chain 576R/R and AICDA 8408T/T genotypes confer genetic susceptibility to adult allergic asthma in China.
Alleles ; Asthma/etiology ; Asthma/*genetics ; Cytidine Deaminase/*genetics ; Immunoglobulin E/blood ; Interleukin-4/*genetics ; Phenotype ; *Polymorphism, Restriction Fragment Length ; RNA Processing, Post-Transcriptional ; Receptors, Interleukin-4/*genetics

In order to investigate whether Arg110Gln polymorphism in the coding region of the IL-13 gene is associated with asthma and total plasma IgE level in Han nationality in Hubei Chinese population, the allele frequency of 4257(g/a) site and Arg110Gln genotype of IL-13 was detected by using restriction fragment length polymorphism in Han nationality in Hubei Chinese population including 43 asthmatic children, 45 asthmatic adults, 31 control children and 46 control adults. Total plasma IgE was measured by Chemiluminescence assay. The results showed that the frequency of allele A at 4257 bp of IL-13 in children and adults was 0.39 and 0.32, respectively. The GlnGln form of Arg110Gln polymorphism of IL-13 gene was associated with susceptibility of asthma and elevated total plasma IgE in children (P=0.030 and 0.0009, respectively), but not with them in adults (P=0.219 and 0.174, respectively). Our results suggest that the Arg110Gln polymorphism of IL-13 gene is associated with susceptibility of asthma and elevated total plasma IgE in Chinese children of Han nationality in Hubei, but not with them in adults.
Asthma/*genetics ; China/ethnology ; Chromosomes, Human, Pair 5/genetics ; Gene Frequency ; Genetic Predisposition to Disease/*genetics ; Immunoglobulin E/blood ; Interleukin-13/*genetics ; Polymorphism, Genetic/*genetics