Objective To study the characteristics of child acute lymphocytic leukemia (ALL) immuno-phenotype and evaluate its diagnosis value. Methods Direct immunofluorescence staining and CD45/Side Scatter (SSC) gating of flow cytometry were used for immunophenotyping in 111 cases of child ALL. The relation of mor-phology and immunology classification was analyzed. Results Three categories could be identified,including 81 ca-ses (73.0%) of B lineage ALL, 16 cases (14.4%) of T lineage ALL and 14 cases (12.6% ) of B/T lineage ALL. There were 25 cases (22.5% ) of ALL expressing myeloid-associated antigens. According to the FAB Morphology classification,59 cases (53.2%) of L1 type and 47 cases (42.3%) of L2 type were diagnosed. The two cases (1.8%) of L3 type were classified as one case of null-ALL and one case of B-ALL. One case (0.9%)of acute my-eloblastic leukemia (AML-M2a) was identified as null-ALL. The two cases that could not be diagnosed by FAB clas-sification were c-ALL. Conclusion The immunophenotyping helps to identify the character of leukemia with an im-portant value in diagnosis of child ALL.

Objective To investigate the application of combined detection of serum calcitonin(PCT),interleukin-6 (IL-6)and C reactive protein(CRP)in early diagnosis of sepsis in intensive care unit(ICU).Methods ICU ward diagnosed 89 cases of patients with early sepsis(sepsis group),fever and did not peak use of antibiotics,send blood to blood culture and detection of PCT,IL-6,CRP level,and at the same time to select 132 cases of healthy subjects(healthy control group),blood samples were collected to detect PCT,IL-6,CRP;PCT,IL-6 for the detection of electrochemical luminescence method.The detection of CRP by immunoturbidimetric method.Results ICU patients with sepsis in PCT,IL-6,CRP detection value is significantly higher than the control group,and the difference was statistically significant(P＜0.01);combined detection sensitivity and specificity was significantly higher than that of single detection,PCT+ IL-6,PCT+ CRP,PCT+ IL-6-+-CRP sensitivity of three kinds of combined detection were 91.3 ％,90.5％ and 91.9％,the specificity was 89.5％,88.3％ and 89.4％,and accuracy were 85.5％,85.3％ and 85.6％.Conclusion Combined detection of PCT+ IL-6 + CRP or PCT+ IL-6 or PCT+CRP,is helpful to the clinical recognition of early sepsis.

PurposeTo evaluate the feasibility and clinical values of CT scan with iterative reconstruction and low radiating dose in craniocerebral trauma.Material and Methods 120 patients suffered from craniocerebral trauma were randomly assigned. All the subjects underwent CT scan using route dose of filtered back projection (FBP) and low dose of iDose (? dose and ? dose), respectively. The quartering were used to subjectively evaluate noise of imaging, skull base artifact, contrast of gyrus-white matter and lesion display in each group. Imaging noise, signal and noise rate (SNR), contrast and noise rate (CNR) of gyrus-white matter and dose length product (DLP) were compared.Results The image quality of both? iDose and ? iDose groups were lower than that of FBP group, but still met the requirement of diagnosis. The image noise of both? iDose and ? iDose groups were higher than that of FBP group (P<0.05). The SNR and CNR of both? iDose and ? iDose groups were lower than those of FBP group (P<0.05). The DLP of both? iDose and ? iDose groups were lower than that of FBP group. There was statistical difference between iDose groups and FBP group (F=2751.46,P<0.05).Conclusion Application of iDose could effectively decrease radiation dose in craniocerebral trauma. Although iDose technique has higher noise level and lower SNR and CNR, the imaging qualities and capability of displaying abnormity meet diagnosis requirement. So that iDose has clinical significance.

AIM: To investigate the association of osteoprotegerin ( OPG) gene single nucleotide polymor-phisms (SNPs), 163A/G (rs3102735) and 245T/G (rs3134069), with susceptibility to rheumatoid arthritis (RA) in Chinese Han population .METHODS:A total of 205 patients with RA and 171 healthy control subjects were enrolled into this study.Genotyping was performed by polymerase chain reaction-based restriction fragment length polymorphism and subsequently confirmed by DNA sequencing .Odds ratio ( OR) and 95%confidence intervals ( CI) were calculated for the risk genotypes and alleles .RESULTS: OPG gene polymorphisms 163A/G and 245T/G were conformed to the Hardy-Weinberg equilibrium .The statistical differences in the genotypes of AA , AG and GG at 163A/G locus were found in RA and controls.The G allele was associated with an increased risk of RA , with OR of 1.219 (95%CI:1.066~2.339).No significant difference was observed between RA group and control group with respect to genotypic and allelic frequencies of OPG gene 245T/G (P>0.05).CONCLUSION:The OPG gene 163A/G SNP may be associated with RA susceptibility , and G allele may be the risk factor for developing RA .

Objective To investigate the expression of connective tissue growth factor(CTGF),coll agen I and collagen Ⅲ in sacroiliac joint(SIJ)of patients with spondyloarthropathy(SpA).Methods Thirty patients with SpA,including 17 patients with grade Ⅱ saeroiliitis and 13 patients with grade Ⅰ sacroiliitis,were performed on CT guided needie biopsy of SIJ.After sacroiliitis were confirmed by staining with hematoxylin and eosin in sacroiliac joint tissue sample,immunohistochemical assay was performed to determine the expression of CTGF,collagen Ⅰ and collagen Ⅲ in sacroiliac ioint tissue.Univariate Chi-square test was used for data comparison between multiple groups and t-test was used for two group data comparison.Results Contrast to healthy controls,CTGF were found upexpressed on the cytoplasm of inflammatory cells in pannus and bone marrow of sacroiliac tissue samples of patients with SpA,while collagen I and collagen Ⅲ were found up-expressed in bone,cartilage and ligament tissue[(57.9±42.4)/HP vs(2.7±2.5)/HP P<0.05,0.298±0.080 vs 0.044±0.024 and 28.254±41.165 vs 0.105±0.054.P<0.05 respectively].Conclusion CTGF,collagen Ⅰ and collagen Ⅲ are up-expressed in SIJ of SpA patients.CTGF may play an important role in articular cartilage fibrosis and ossification of SpA.

Objective To investigate the expression of transforming growth factor beta (TGF-β) and Smad signaling in ankylosing spondylitis (AS) and to explore their roles in the pathogenesis. Methods Fiftythree patients with AS were included in the study. In these 53 cases, 30 patients were performed computed tomography-guided needle biopsy in sacroiliac joint. Serum TGF-β_1 was determined by enzyme-linked immunosorbent assay (ELISA). Immunohistological studies were performed with the streptavidin-peroxidase conjugated methods to assess the expression of TGF-β_1, p-smad3 and Smad7 in sacroiliac joint tissue sample.One-way ANOVA, two independent samples t test and kolmogoorov-Simimov test were used to do statistical analysis. Results In 53 cases patients with AS, 20 cases were with high level Erythro-cyte sedimentation rate(ESR) and C-reactive protein (CRP), while those of the other 33 cases were normal. Serum average TGF-β_1level [ (15.9±5.6) ng/ml ], in patients with high level ESR/CRP [(5.4±5.8) ng/ml ] was significantly increased as compared to the controls and patients with normal ESR/CRP [(4.1±3.6) ng/ml] (P<0.05). There was no expression of TGF-β_1 could be detected in the pannus and bone marrow in SI joints tissue of 30 cases with AS, while decreased level of smad7 expression was detected. In addition, p-smad3 expression was found in the nuclear. Conclusion TGF-β_1 signaling may play an important role in the inflammatory erosion and cartilage fibrosis of sacrojlitis in AS.

Objective To observe and compare the safety and short-term outcomes of laparoscopic surgery (LS)versus conventional open surgery(OS)for stage Ⅱor Ⅲ rectal cancer(RC). Methods One hundred and six patients with stage ⅡorⅢRC were divided into LS group(n=53)and OS group(n=53)according to the random double blind method. The related outcomes of two groups were compared ,including surgical duration , intraoperative blood loss , length of incision , distal margin length , proximal margin length , the number of lymph node dissection,residual cancer rate,exhaust time,first ambulation time,and postoperative hospital stay. Results Intraoperative blood loss,length of incision,postoperative hospital stay,exhaust time and the first ambu-lation time in LS group were significantly different from those in OS group (P < 0.05 for all comparisons). And there were no significant differences between the two groups in surgical duration ,the number of lymph node dissec-tion,distal margin length,proximal margin length and residual cancer rate(P > 0.05). Conclusions Laparo-scopic technology is safe and feasible in treating rectal carcinoma,with less trauma,quicker recovery,and shorter hospital stay.

Objective:To observe the long-term effects of conventional disease modifying anti-rheumatic drugs (cDMARDs) in the treatment of ankylosing spondylitis (AS) and drug-related adverse reactions, and provide reference to clinical treatment and assessment.Methods:Retrospective analysis was performed for AS patients with more than 10 years follow-up records in the Department of Rheumatology and Immunology, Peking University Shenzhen Hospital. The AS patients enrolled were treated with cDMARDs, non-steroid anti-inflammatory Drugs (NSAIDs), and glucocorticoidsonl only. The treatment group was treated continuously for at least 3 years, and the control group was untreated or treated for less than 3 months. Clinical symptoms, inflammatory indicators, imaging results and drug-related adverse reactions of all patients were collected for statistical analysis. The counting data were tested by χ2 test, the measurement data in normal distribution was tested by t test, and the measurement data that not normally distributed was tested by mann-whitney U test. Paired test was used for statistical processing before and after treatment. Results:A total of 166 eligible patients were included, including 111 in the treatment group and 55 in the control group. There were no statistical significant differences between the treatment group and the control group at baseline including the mean follow-up time, symptomatic disease course, age, sex ratio, human lymphocyte antigen (HLA)-B27 positive rate, duration of morning stiffness, pain at night, peripheral arthritis, ESR, CRP and imaging data. After 10 years, the treat-ment group had shorter morning stiffness[(8±18) vs (22±34), U=2 228, P=0.008], less nocturnal pain [(2/1.9%) vs (19/36.5%), χ2=37.037, P<0.01], lower ESR level [(14±13) vs (20±19), t=2.249, P=0.026], lower CRP level [(6±6) vs (10±11), t=2.154, P=0.033], lower incidence of peripheral arthritis [(23/20.7%) vs(25/45.5%), χ2=10.946, P=0.001] and lower sacroiliac arthritis progression rate [(28/25.2% ) vs (46/83.6%), χ2=50.922, P<0.01], and lower spinal progression rate [(8/7.2%) vs (51/92.7%), χ2=117.407, P<0.01] compared with the control group. The differences between the two groups was statistically significant. The main medications and drug proportions in the treatment group were as follows: sulfasalazine (100%), methotrexate (86.5%), NSAIDs (98.2%), glucocorticoid (78.4%) and thalidomide (62.2%). The main drug-related adverse reactions that occurred during the treatment included dizziness, abnormal menstruation, and reversible liver dysfunction. Conclusion:The combination of cDMARDs can effectively control the clinical symptoms of most AS patients, reduce inflammation indicators, delay the progression of sacroiliac joint and spinal damage, and have no serious drug-related adverse reactions. Almost all of the untreated AS patients have radiographic progression of the sacroiliac joint and spine.

OBJECTIVETo explore the disease-causing mutations in a patient suspected for giant axonal neuropathy(GAN).

METHODSTarget sequence capture sequencing was used to screen potential mutations in genomic DNA extracted from peripheral blood sample of the patient. Sanger sequencing was applied to confirm the detected mutation. The mutation was verified among 400 GAN alleles from 200 healthy individuals by Sanger sequencing. The function of the mutations was predicted by bioinformatics analysis.

RESULTSThe patient was identified as a compound heterozygote carrying two novel pathogenic GAN mutations, i.e., c.778G>T (p.Glu260Ter) and c.277G>A (p.Gly93Arg). Sanger sequencing confirmed that the c.778G>T (p.Glu260Ter) mutation was inherited from his father, while c.277G>A (p.Gly93Arg) was inherited from his mother. The same mutations was not found in the 200 healthy individuals. Bioinformatics analysis predicted that the two mutations probably caused functional abnormality of gigaxonin.

CONCLUSIONTwo novel GAN mutations were detected in a patient with GAN. Both mutations are pathogenic and can cause abnormalities of gigaxonin structure and function, leading to pathogenesis of GAN. The results may also offer valuable information for similar diseases.

Amino Acid Sequence ; Child ; Computational Biology ; Cytoskeletal Proteins ; genetics ; Giant Axonal Neuropathy ; genetics ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Sequence Analysis, DNA