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1.
Journal of Experimental Hematology ; (6): 1831-1836, 2020.
Article in Chinese | WPRIM | ID: wpr-879979

ABSTRACT

OBJECTIVE@#To investigate the consistency between FCM and PCR on the detecting of MRD in TCF3-PBX1@*METHODS@#55 cases of paediatric TCF3-PBX1@*RESULTS@#Among the 55 children with TCF3-PBX1@*CONCLUSION@#The detection result of MRD in TCF3-PBX1 detect by FCM and PCR shows better consistency. MRD positivity detected by FCM at the end of induction therapy (day 33) predicts a high risk of relapse in TCF3-PBX1 ALL patients.


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Male , Bone Marrow , Neoplasm, Residual , Oncogene Proteins, Fusion/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Prognosis , Recurrence
2.
China Pharmacy ; (12): 2585-2591, 2020.
Article in Chinese | WPRIM | ID: wpr-829592

ABSTRACT

OBJECTIVE:To investigate the intervention effect of Shenfu i njection(SFI)on the nuclear translocation of high mobility group box 1(HMGB1) in lipopolysaccharide (LPS)-induced RAW 264.7 cells. METHODS : Using LPS-induced RAW264.7 cells as objects ,the histone deacetylase inhibitor RGFP 966 as positive control ,CCK-8 assay was used to screen drug dosage,and the effects of low ,medium and high doses (3,6,12 μL/mL)of SFI on HMGB 1 nuclear translocation in RAW 264.7 cells were observed by immunofluorescence method ;mRNA expression of HMGB 1 in RAW 264.7 cells were detected by real time fluorescent PCR. Western blotting assay was used to determine protein expression of HMGB 1 and Toll-like receptor 4(TLR4);the expression of HMGB 1 were compared between nucleus and cytoplasm. The levels of HMGB 1,IL-1β and TNF-α in supernatant of cells were detected by ELISA. RESULTS :In blank control group ,HMGB1 was mainly located in the nucleus ;after LPS induction, HMGB1 migrated from nucleus to cytoplasm. Compared with blank control group , mRNA and protein (No.81760738) expression of HMGB 1, protein expression of TLR 4 in RAW264.7 cells as well as the levels of HMGB 1,IL-1β and TNF-α in supernatant of cells were increased significantly in LPS group (P<0.01). The protein expression of HMGB 1 was decreased significantly in nucleus while was in creased significantly in cytoplasm (P<0.01). After SFI treatment ,the nuclear translocation and secretion of HMGB 1 were inhibited in different degrees ;compared with LPS group ,mRNA and protein expression of HMGB 1 in administration groups ,protein expression of TLR 4 in RAW 264.7 cells of positive control group ,SFI medium- and high-dose groups as well as the levels of HMGB 1,IL-1β and TNF-α in supernatant of cells in administration groups were decreased significantly (P<0.01). In positive control group ,SFI medium- and high-dose groups ,the protein expressions of HMGB1 in nucleus were increased significantly ,while protein expressions of HMGB 1 in cytoplasm were decreased significantly (P<0.01). CONCLUSIONS :SFI may inhibit the nuclear translocation and secretion of HMGB 1 in RAW 264.7 cells,thus avoiding the activation of inflammatory pathways and the production of inflammatory factors ,so as to reduce the inflammatory response induced by LPS.

3.
China Pharmacy ; (12): 1492-1497, 2019.
Article in Chinese | WPRIM | ID: wpr-816912

ABSTRACT

OBJECTIVE: To study the improvement and anti-inflammation mechanism of Shenfu injection on lung tissue of endotoxin shock model rats. METHODS: Totally 48 rats were randomized into control group,model group,dexamethasone group (positive control,1 mg/kg) and Shenfu injection low-dose,medium-dose and high-dose groups (5,10,15 mL/kg),with 8 rats in each group. Except for normal group, other groups were given intraperitoneal injection of lipopolysaccharide (LPS) to induce endotoxin shock model. After modeling, each group was given relevant medicine once intraperitoneally. 24 h after medication, HE staining was used to observe pathological changes of lung tissue in rats and pathological scoring was conducted. RT-PCR was used to determine mRNA levels of P65 and P50 proteins related to NF-κB signaling pathway. Western blot assay was used to determine the expression levels of P65 and P50 proteins in lung tissue, and the expression levels of P65 protein in nucleus and cytoplasm of lung tissue were also determined. The level of TNF-α in plasma in rats were determined by ELISA. RESULTS: Compared with control group, alveolar septum became thicker, obvious vascular engorgement was found, and a large number of neutrophils infiltrated the interstitium in model group. Histopathological score, mRNA and protein expression levels of P65 and P50 in lung tissues were increased significantly (P<0.01 or P<0.001); the protein expression of levels P65 in nucleus and cytoplasm and level of TNF-α in plasma were increased significantly (P<0.001). Compared with model group, alveolar structure of rats in dexamethasone group and Shenfu injection medium-dose and high-dose groups was complete, no obvious bleeding was observed, and the degree of inflammatory cell infiltration was improved significantly. Histopathological score, mRNA and protein expression levels of P65 and P50 in lung tissue and level of TNF-α in plasma were decreased significantly (P<0.05 or P<0.01 or P<0.001). The protein expression level of P65 in nucleus and cytoplasm of lung tissue were decreased significantly in dexamethasone group and Shenfu injection low-dose and medium-dose groups were decreased significantly (P<0.05 or P<0.01 or P<0.001). CONCLUSIONS: Shenfu injection can decrease mRNA and protein expression levels of P65 and P50 in lung tissue, level of TNF-α in plasma, and protect lung tissue of endotoxin shock rats.

4.
Chinese Journal of Hematology ; (12): 501-506, 2018.
Article in Chinese | WPRIM | ID: wpr-1011795

ABSTRACT

Objective: Analysis of the molecular characteristics of eosinophilia. Methods: Targeting sequence to 24 patients with chronic eosinophilic leukemia (CEL) with rearrangement of PDGFRA, PDGFRB, or FGFR1 and 62 patients with hyper-eosinophilic syndrome (HES). Mutation annotation and analysis of amino acid mutation using authoritative databases to speculate on possible pathogenic mutation. Results: Thirty-seven kinds of clonal variant were detected from 17 patients with CEL, no recurrent mutation site and hot spot region were found. No pathogenic mutation was detected in 19 patients with PDGFRA rearrangement, but pathogenic mutations of ASXL1, RUNX1 and NRAS were detected from 2 patients with FGFR1 rearrangement who progressed to acute myeloid leukemia and 1 patient with PDGFRB rearrangement who progressed to T lymphoblastic lymphoma, respectively. One hundred and two kinds of clonal abnormalities were detected in 49 patients with HES. The main hot spot mutation regions included: CEBPA Exon1, TET2 Exon3, ASXL1 Exon12, IDH1 Y208C, and FGFR3 L164V. CRRLF2 P224L and PDGFRB R370C point mutations were detected separately in 2 patients with HES who treated with imatinib monotherapy and achieved hematologic remission. Conclusion: The pathogenesis of CEL with PDGFRA, PDGFRB or FGFR1 rearrangement is usually single, and the progression of the disease may involve other driver mutation. A variety of genes with hot mutation regions may be involved in the pathogenesis of HES, and some mutation sites are sensitive to tyrosine kinase inhibitors.


Subject(s)
Humans , Chronic Disease , Hypereosinophilic Syndrome , Imatinib Mesylate , Leukemia , Receptor, Platelet-Derived Growth Factor alpha , Receptor, Platelet-Derived Growth Factor beta
5.
Journal of Experimental Hematology ; (6): 115-119, 2017.
Article in Chinese | WPRIM | ID: wpr-311583

ABSTRACT

<p><b>OBJECTIVE</b>To detect the immunoglobulin(Ig) and T cell receptor(TCR) gene rearrangement in bone marrow of non-Hodgkin's lymphoma(NHL) patients by using BIOMED-2 standardized system, and to explore the potential clinical significance of Ig/TCR gene rearrangement.</p><p><b>METHODS</b>DNA was extracted in bone marrow and Formalin-fixed and Paraffin-embedded(FFPE) samples of NHL patients, the Ig/TCR gene rearrangements were analyzed by using BIOMED-2 multiple primers system and multiplex PCR assay.</p><p><b>RESULTS</b>Among 235 T-NHL cases, 71.9% showed TCR gene rearrangement. The positive rate of TCRγ and the TCRβ were 57.9% and 50.2%. Out of 583 B-NHL cases, 81.6% showed Ig gene rearrangement. The positive rate of IgH and the IgK were 70.7% and 69.3%. MCL patients showed 84.8% IgH rearrangement and 75.8% IgK rearrangement, as compared with FL(34.0%, 50.9%) and DLBCL(9.2%, 16.1%) patients, the difference was statistically significant (P<0.05). Out of Ig rearrangement positive B-NHL cases, 65 showed TCR gene rearrangement. None TCR rearrangement positive T-NHL cases showed Ig gene rearrangement, 25 cases(83.3%) showed Ig gene rearrangement in FFPE samples of 30 DLBCL patients, as compared to Ig rearrangement positive rate of bone marrow, the difference was statistically significant (P<0.001).</p><p><b>CONCLUSION</b>BIOMED-2 standardized Ig/TCR gene rearrangement system shows assistance for lymphoma diagnosis. The PCR sequencing analysis is much more sensitive and specific and has significance for clinical diagnosis.</p>

6.
Journal of Experimental Hematology ; (6): 352-357, 2016.
Article in Chinese | WPRIM | ID: wpr-360086

ABSTRACT

<p><b>OBJECTIVE</b>To explore the application of combined detection of fusion gene and BIOMED-2 standardized immunoglobulin (Ig) gene rearrangement system in diagnosis and treatment of children with acute lymphoblastic leukemia (ALL).</p><p><b>METHODS</b>Multiplex-PCR amplifications and RQ-PCR of RNA/DNA were performed using ALL fusion gene detection kit and BIOMED-2 primer. The Ig gene rearrangements were analyzed by using PCR fragment analysis system.</p><p><b>RESULTS</b>Out of 251 children with B-ALL, 77 cases were TEL-AML1(+) , 28 cases were E2A-PBX1(+) , 10 cases were MLL-AF4(+) , 11 cases were BCR-ABL(+) , the total positive rate was 50.2%, 82.5% showed IgH VH-JH rearrangement, 53.4% showed IgK rearrangement. The positive rate of combined detection of fusion gene and gene rearrangement was 99%. E2A-PBX1(+) and MLL-AF4(+) with IgK(+) gene rearrangement group was compared with negative control group, the difference was statistically significant (P < 0.001 or P = 0.005); 105 ALL fusion gene positive cases had been detected by fluorescence in situ hybridization (FISH) simultaneously, the accordance rate of fusion gene and FISH was more than 94%.</p><p><b>CONCLUSION</b>The combined detection of ALL fusion gene and BIOMED-2 standardized clonality analysis system can improve the positive detected rate of B-ALL dramatically, and make the grouping of disease prognosis more accurately; this combined detection is a more faster and sensitive method than FISH.</p>


Subject(s)
Child , Humans , Core Binding Factor Alpha 2 Subunit , Genetics , DNA Primers , Fusion Proteins, bcr-abl , Genetics , In Situ Hybridization, Fluorescence , Multiplex Polymerase Chain Reaction , Oncogene Proteins, Fusion , Genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Diagnosis , Genetics , V(D)J Recombination
7.
Chinese Journal of Hematology ; (12): 566-571, 2013.
Article in Chinese | WPRIM | ID: wpr-272165

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the incidence, molecular features and clinical significance of CCAAT/enhancer binding protein alpha (CEBPA) gene mutation in patients with acute myeloid leukemia (AML).</p><p><b>METHODS</b>Mutation analysis of the entire coding region of CEBPA gene in 206 de novo AML patients was performed by using polymerase chain reaction (PCR) followed by sequence analysis and fragment length analysis.</p><p><b>RESULTS</b>Of 206 AML patients, 31 (15%) had CEBPA gene mutations, including 23 with double mutations (duCEBPA) and 8 with single mutation (siCEBPA). CEBPA gene mutations presented mainly in M2 subtype or intermediate risk patients. As compared with those with wild type CEBPA gene, patients with mutated CEBPA gene were of higher white blood cell counts [20.92(0.86-351.43)× 10(9)//L vs 8.17(0.47-295.2) × 10(9)/L, P=0.003], higher hemoglobin levels [97.5(51-128) g/L vs 80.5(13-153) g/L, P=0.015] and lower platelet counts [27.5(5-81)× 10(9)//L vs 44(3-548)× 10(9)/L, P=0.004]. Patients with CEBPA gene mutation had higher complete remission (CR) rate than those with wild type (P=0.009). While co-existing of NPM1 and siCEBPA mutations was observed in M5 subtype (2/8, 25%), NPM1 gene mutation was not present in any patients with duCEBPA mutation (0/23, 0%). Dynamic tracking analysis showed that CEBPA mutations disappeared at CR, and the same mutations re-appeared at relapse. When compared to sequence analysis, the coincidence rate of CEBPA mutations detected by fragment length analysis was 100% (54/54).</p><p><b>CONCLUSION</b>CEBPA gene mutation is a recurring genetic change in AML patients and has a certain correlation with clinical and laboratory features. It could be reliably used as a potential marker for minimal residual disease follow up. The prognostic significance of co-existing of siCEBPA with NPM1 mutations in patients with AML-M5 subtype needs further investigation.</p>


Subject(s)
Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , CCAAT-Enhancer-Binding Proteins , Genetics , DNA Mutational Analysis , Gene Expression Regulation, Leukemic , Genotype , Leukemia, Myeloid, Acute , Genetics , Therapeutics , Mutation , Polymorphism, Restriction Fragment Length , Prognosis
8.
Journal of Experimental Hematology ; (6): 1216-1220, 2012.
Article in Chinese | WPRIM | ID: wpr-278403

ABSTRACT

The aim of study is to explore the characteristics of cytogenetics and molecular biology in patients with eosinophilia. Bone marrow samples from 79 cases of eosinophilia (AEoC ≥ 1.5×10(9)/L) were detected for PDGFRA/B and FGFR1 gene rearrangement by fluorescence in situ hybridization and reverse transcription polymerase chain reaction (RT-PCR). Forty-four samples were detected for T cell receptor (TCR) clonal rearrangement by PCR. The results showed that among 76 cases the FIP1L1/PDGFRA (F/P) fusion gene was detected in 19 cases, the CHIC2 deletion was detected in 19 cases, the PDGFRA rearrangement was detected in 4 cases, and no FIP1L1 rearrangement was detected. According to the 2008 WHO classification, diagnosis were revised as myeloid neoplasms with PDGFRA/B rearrangement in 20 (42%) of 48 patients and 5 (83%) of 6 patients with hypereosinophilia syndrome (HES) or chronic eosinophilic leukemia (CEL), respectively. The diagnosis in (17%) of 6 patients with CEL was revised as chronic eosinophilic leukemia, not otherwise as specified (CEL-NOS). Clonal cytogenetic abnormalities were detected in 1 case of CEL-NOS and 3 cases with PDGFRB rearrangement. Karyotypic abnormalities involved in chromosome 4q12 were not detected in all of the 21 cases with PDGFRA rearrangement. The clonal TCR gene rearrangement were detected in 33% (5/15), 40% (6/15), and 36% (5/14) cases with PDGFRA/B rearrangement, HES, or secondary eosinophilia, respectively. There was no statistical difference in incidence rate among 3 subgroups. It is concluded that PDGFRA/B rearrangement can be detected in many cases of HES or CEL. Interphase FISH and PCR testing can enhance the diagnostic rate of myeloid neoplasms with PDGFRA/B rearrangement.


Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Gene Rearrangement , Hypereosinophilic Syndrome , Genetics , In Situ Hybridization, Fluorescence , Karyotyping , Oncogene Proteins, Fusion , Genetics , Receptor, Fibroblast Growth Factor, Type 1 , Genetics , Receptor, Platelet-Derived Growth Factor alpha , Genetics , Receptor, Platelet-Derived Growth Factor beta , Genetics , Reverse Transcriptase Polymerase Chain Reaction , mRNA Cleavage and Polyadenylation Factors , Genetics
9.
Chinese Journal of Hematology ; (12): 705-709, 2012.
Article in Chinese | WPRIM | ID: wpr-278329

ABSTRACT

<p><b>OBJECTIVE</b>To investigate JAK2 exon 12 mutations in patients with Philadelphia (Ph) chromosome-negative myeloproliferative neoplasms (MPN) and the clinical characteristics of patients with JAK2 exon 12 mutants.</p><p><b>METHODS</b>Allele-specific PCR (AS-PCR) was applied to identify JAK2 V617F mutation. Genomic DNA corresponding to exon 12 of JAK2 gene and epigenetic regulator gene (TET2, ASXL1, EZH2) were amplified by polymerase chain reaction (PCR). Identification of mutants was by direct sequencing and classification of mutation types by sequencing followed by plasmid cloning. SNP genotyping of two 46/1 tag SNPs, rs12340895 and rs10974944, was analyzed using commercially available Taqman assays on the 7500HT real-time PCR instrument according to standard protocols.</p><p><b>RESULTS</b>No JAK2 exon 12 mutation was detected in patients with ET, PMF or JAK2 V617F positive PV. Among 13 JAK2 V617F negative PV patients, JAK2 exon 12 mutation was detected as N542-E543del in 2(15.4%) patients who presented with a phenotype of predominant erythrocytosis and erythroid colonic grown from their bone marrow samples in the absence of exogenous EPO, reduced serum erythropoietin (EPO) level, and no mutations in TET2, ASXL1 or EZH2 genes. One of the affected patients was heterozygous for 46/1 but the second was negative for this haplotype.</p><p><b>CONCLUSION</b>There was no need to detect JAK2 exon 12 mutation in ET, PMF or MPN-U patients without JAK2 V67F mutation. Ph negative MPN patients with JAK2 exon 12 mutations had somewhat unique clinical and laboratory features.</p>


Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Bone Marrow Neoplasms , Genetics , DNA Mutational Analysis , Exons , Genotype , Janus Kinase 2 , Genetics , Myeloproliferative Disorders , Genetics , Philadelphia Chromosome
10.
Chinese Journal of Hematology ; (12): 299-303, 2011.
Article in Chinese | WPRIM | ID: wpr-251969

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the relationship between DNA homologous recombination (HR) repair genes RAD51-G135C/XRCC3-C241T polymorphisms and development of acute myeloid leukemia (AML) with recurrent chromosome translocation.</p><p><b>METHODS</b>Genomic DNA was extracted from bone marrow cells of 625 de novo AML patients and peripheral blood cells of 806 patient family members and 704 unrelated volunteers. Genotypes of RAD51-G135C and XRCC3-C241T were analyzed by PCR-RFLP. Cell lines with genotypes differed from XRCC3-C241T were selected and irradiated in vitro. The CBFβ-MYH11 fusion gene was detected by TaqMan real-time PCR.</p><p><b>RESULTS</b>The XRCC3-C241T variant (C/T + T/T) showed 6.22-fold and 6.99-fold increase in the risk of developing the AML with inv(16)/t(16;16)/CBFβ-MYH11 as compared with the volunteer and family member controls respectively; the RAD51-G135C homozygote-type (C/C) variant showed 0.87-fold (P = 0.010) and 1.15-fold (P = 0.001) respectively increase in the risk of this subtype AML. In the irradiated group, the CBFβ-MYH11 mRNA level in HL-60 cells was 59.49 times increased than that in KG1a cells. However, the RAD51-G135C and XRCC3-C241T variants had no correlations with the risk of development of t(15;17)/PML-RARα(+)AML, t(8;21)/AML1-ETO(+) AML and 11q23 AML subtypes.</p><p><b>CONCLUSION</b>The XRCC3-C241T variant and the RAD51-G135C homozygote-type significantly increase the risk of the development of AML with inv(16)/t(16;16)/CBFβ-MYH11.</p>


Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Young Adult , Case-Control Studies , DNA-Binding Proteins , Genetics , Genetic Predisposition to Disease , Genotype , Leukemia, Myeloid, Acute , Genetics , Oncogene Proteins, Fusion , Genetics , Polymorphism, Single Nucleotide , Rad51 Recombinase , Genetics , Translocation, Genetic
11.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 248-54, 2010.
Article in English | WPRIM | ID: wpr-634779

ABSTRACT

To evaluate lesion detection of MRI in knee joint osteoarthritis in patients with symptoms of pain, the correlation between MRI findings and varying degrees of reported pain was assessed. Twenty-eight patients (31 knees) with osteoarthritis were recruited for this study. The degree of knee pain was assessed by VRS scores. The knees were evaluated by plain film radiograph utilizing Kellgren-Lawrence scores. Multiple MR sequences were performed on a 1.5T MR-system, including sagittal and coronal dual fast spin echo (TR/TE 3660/11/120 ms, slice thickness 5 mm), coronal spin echo T1-weighted (TR/TE 360/9 ms, slice thickness 5 mm), sagittal fat saturated 3D-spoiled gradient-recalled echo (TR/TE 50/6 ms; slice thickness 1.5 mm; flip angle 40 degrees ), and 3D steady-state free precession (TR/TE 6/2.2 ms; slice thickness 1.6 mm; flip angle 30 degrees ) pulse sequences for the purpose of detecting abnormities of cartilage, menisci, the anterior cruciate ligaments, bone marrow edema-like lesions, osteophytes, synovitis, and joint effusions. MR findings were compared with the degree of pain using Fisher exact test with P values less than 0.05 indicating a statistically significant difference. The results showed that, of the 31 knees evaluated, mild pain was reported in 11 and severe pain in the remainder. Kellgren-Lawrence scores of all 31 evaluated OA knees were as follows: grade 1 lesions (n=6), grade 2 lesions (n=14), grade 3 lesions (n=8), and grade 4 lesions (n=3). Articular cartilaginous defects were found in 37.1% of knees. Abnormalities of the menisci and anterior cruciate ligaments, bone marrow edema-like lesions, osteophytes, synovitis, and joint effusions were detected in 32.3%, 38.7%, 45.2%, 100%, 15.1% and 67.7% of knees, respectively. Of these variables, only the differences in prevalence of joint effusions were significantly different in the mild and severe pain groups (P=0.004). It is concluded that MRI evaluates the entire joint structure of the osteoarthritic knee, demonstrating abnormalities of the cartilage, menisci, and anterior cruciate ligaments as well as bone marrow edema-like lesions, osteophytes, synovitis, and joint effusions. The difference in pain grading between OA patients reporting mild and severe degrees of pain is related to the presence of joint effusion.

12.
Chinese Journal of Hematology ; (12): 223-228, 2009.
Article in Chinese | WPRIM | ID: wpr-314500

ABSTRACT

<p><b>OBJECTIVE</b>To detect the incidence of the HFE gene C282Y and H63D mutations in patients with myelodysplastic syndromes (MDS) and aplastic anemia (AA), and analyze the relationship of these mutations with iron metabolism, and organs impairment from iron overload.</p><p><b>METHODS</b>The incidence of the C282Y and H63D mutations in 271 MDS, 402 AA patients and 1615 normal subjects was measured by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) combining with DNA sequencing. Iron metabolism parameters and iron overload indices were retrospectively compared between HFE gene mutation and unmutation groups in MDS and AA patients with no transfusion history.</p><p><b>RESULTS</b>No C282Y and C282Y/H63D compound mutation was detected in all the three groups. The incidence of H63D heterozygous and homozygous genotype did not significantly differ between AA cases and controls (9.7% vs 10.2%, 0.25% vs 0.24% respectively, both P > 0.05). The frequency of H63D heterozygous genotype in MDS patients was significantly lower than that in controls (4.1% vs 10.2%, P = 0.002). H63D homozygous was not found in MDS patients. In both MDS and AA patients with no RBC transfusion history, serum ferritin (SF), transferrin saturation value (TS), serum iron concentration (SI) were close to or higher than normal; and unsaturated iron-binding capacity (UIBC) value was significantly lower. There was no significant difference in SF, SI, TS values between HFE-mutation and -unmutation MDS patients. For AA patients, only the level of SI was significantly higher in HFE-mutant group than in -unmutation group [42.6 (24.6-60.4) micromol/L vs 32.0 (8.4-63.3) micromol/L, P = 0.011]. There was no significant difference in the values of liver enzyme, fasting blood sugar (FBS), abnormal electrocardiogram (ECG), peripheral blood indices between HFE-mutation and -unmutation MDS and AA groups (all P > 0.05).</p><p><b>CONCLUSION</b>The distribution of C282Y and H63D mutations has ethnic and genetic disparity, the frequency in Chinese population is lower than that in Caucasian. It seems that MDS and AA patients are susceptible to iron overload, in the diseases itself and the mutations of HFE gene are not the major factor for iron overload in the patients.</p>


Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Young Adult , Anemia, Aplastic , Genetics , Case-Control Studies , China , Genotype , Hemochromatosis Protein , Histocompatibility Antigens Class I , Genetics , Iron , Blood , Iron Overload , Genetics , Membrane Proteins , Genetics , Mutation , Myelodysplastic Syndromes , Genetics
13.
Chinese Medical Journal ; (24): 2624-2630, 2009.
Article in English | WPRIM | ID: wpr-307851

ABSTRACT

<p><b>BACKGROUND</b>There is a strong need for quick noninvasive diagnostic technique that can give a valid estimate of the status of the cartilage reliably, discriminating intact cartilage from various grades of impaired cartilage. The goal of this study was to assess the incidence of knee cartilage injuries and compare the accuracy of two-dimension spin echo (2D SE) and fast spin echo (FSE) (conventional MRI), three-dimensional spoiled gradient echo (3D SPGR), three-dimensional fast imaging employing steady state acquisition (3D FIESTA) MR imaging sequences with surgical examination of the articular cartilage.</p><p><b>METHODS</b>One hundred and thirty-eight knees with history of knee trauma received conventional MRI, 3D SPGR and 3D FIESTA MRI examination before surgery, and surgical examination of articular cartilage was used as reference standard. A modified version of the Noyes classification system was applied for the evaluation of the lateral femoral condyle (LFC), medial femoral condyle (MFC), lateral tibial plateau (LTP), medial tibial plateau (MTP), trochlea and patella. The incidence and distributions of different injured grades at different articular surfaces of knee were assessed. A series of assessment indeces of 3D SPGR, 3D FIESTA, and the combination of the conventional MRI and 3D SPGR imaging were calculated.</p><p><b>RESULTS</b>The incidence of cartilage defects (grade 2 to 4) was 22% (183/828), according to surgical examination. Grade 3 and 4 lesions were absent at the medial tibial plateau. The rates of exact match between the grading results of different MRI procedures and surgical examination were 49% of 3D SPGR, 61% of 3D FIESTA, and 82% of the combination of 3D SPGR and conventional MRI. Also, the combination of 3D SPGR and conventional MR imaging provided the highest sensitivity, specificity, accuracy, positive and negative predictive values, at 71%, 97%, 90%, 90% and 90%, respectively.</p><p><b>CONCLUSIONS</b>For all the articular surfaces of the traumatic knees, about one fifth (22%) were cartilage defects. Both 3D SPGR and 3D FIESTA imaging performed similarly in detecting cartilage lesions of the knee. The increased accuracy in chondral assessment can be achieved by combining 3D SPGR and conventional MRI within a reasonable time.</p>


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Cartilage, Articular , Wounds and Injuries , Pathology , General Surgery , Knee Injuries , Pathology , General Surgery , Knee Joint , Pathology , General Surgery , Magnetic Resonance Imaging , Methods
14.
Journal of Experimental Hematology ; (6): 1507-1510, 2009.
Article in Chinese | WPRIM | ID: wpr-328611

ABSTRACT

To unravel the relation of HLA-DRB1*15 with childhood acute lymphoblastic leukemia (ALL), 162 childhood patients with ALL were selected for this investigation. 1 000 normal umbilical cord blood samples were used as control.HLA-DRB1*15 and HLA-DRB5* were typed by polymerase chain reaction (PCR) analysis. The relation of HLA-DRB1*15 with childhood ALL was studied by calculating the chi-square test and relative risk. The results showed that the antigen frequencies and allele frequencies of HLA-DRB1*15 in childhood patients with ALL were 40.12% and 22.62% respectively, while the antigen frequencies and allele frequencies of HLA-DRB1*15 in control were 30.80% and 16.81% respectively, there were significant difference between them (chi(2) = 5.560, p = 0.018, RR = 1.506). In conclusion, the antigen frequencies and allele frequencies of HLA-DRB1*15 in childhood patients with ALL were higher than those in control, so the HLA-DRB1*15 gene is one of the genetic risk factors for childhood ALL. These preliminary data may be useful for further study on the pathogenesis of childhood ALL.


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Case-Control Studies , Gene Frequency , HLA-DR Antigens , Genetics , HLA-DRB1 Chains , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Genetics
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