Adolescent ; Adult ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Cytarabine ; therapeutic use ; Female ; Granulocyte Colony-Stimulating Factor ; therapeutic use ; Humans ; Leukemia, Myeloid, Acute ; drug therapy ; Male ; Middle Aged ; Treatment Outcome ; Vidarabine ; analogs & derivatives ; therapeutic use ; Young Adult

OBJECTIVETo observe the disease-causing gene mutation in Chinese patients with hypertrophic cardiomyopathy and to analyze the correlation between the genotype and the phenotype.

METHODSSpecimens of peripheral blood were collected and the genome DNA was extracted in 65 unrelated patients with hypertrophic cardiomyopathy and 60 normal controls. The exon 7 and 8 of cardiac troponin I gene were screened with PCR and direct sequencing technique.

RESULTSA missense mutation in the exon 7 of the cardiac troponin I gene was identified in a 40-year-old male patient with hypertrophic cardiomyopathy (Asp127Tyr) which was absent in the controls.

CONCLUSIONA novel missense mutation of cardiac troponin I was identified in a patient with hypertrophic cardiomyopathy, this mutation might be the disease-causing gene mutation in this Chinese patient.

Adult ; Cardiomyopathy, Hypertrophic ; genetics ; Case-Control Studies ; DNA Mutational Analysis ; Exons ; Genotype ; Humans ; Male ; Middle Aged ; Mutation, Missense ; Pedigree ; Phenotype ; Troponin I ; genetics

OBJECTIVETo investigate the quantity and function of circulating dendritic cells (DC) in patients with chronic idiopathic thrombocytopenic purpura (ITP).

METHODSHigh dose dexamethasone (HD-DXM) at a dose of 40 mg orally per day for four consecutive days was the initial treatment for chronic ITP patients. Flow cytometry was used to analyze the number of myeloid DC (mDC), plasma cytoid DC (pDC) and CD4+FOXP3+ T cells in patients before and after the treatment, meanwhile the co-stimulatory molecules on circulating DCs were assayed as well. Monocyte-derived DCs and CD4+ T cells were co-cultured with autologous or allogeneic normal fresh platelets and after 6 days of incubation H-TdR was used to assay the proliferation of CD4+ T cells.

RESULTSThe absolute numbers of circulating mDC and pDC were not significantly different between pre-treatment patients and healthy controls (P > 0.05 and P >0.05). However, percentage of CD4+ FOXP3+ T cells was decreased (P < 0.01), and their percentage was inversely correlated with the number of pDC and mDC (r = -0.396, P =0.045 and r = -0.410, P =0.037). The initial response rate to HD-DXM was 92.3%. After 4-days treatment, CD4 FOXP3+ Treg cells increased (P <0.01) while pDCs decreased (P <0.01). Although mDCs increased after HD-DXM (P <0.05), their CD11c expression level was decreased (P < 0.01), the mean fluorescence intensity (MFI) decreased from 340 +/- 30 before treatment to 199 +/- 21 after treatment. The inverse correlation between pDCs and CD4+ FOXP3+ Treg cells remained (r= -0.524, P =0.006) while that between mDCs and Treg cells disappeared (r = - 0.360, P =0.071). The MFI of CD86 on DCs was higher in ITP patients than in healthy controls (P <0.05), while the proportions of CD86, CD40, CD80 and the MFI of CD40, CD80 in ITP patients were normal (P > 0.05). DCs from chronic ITP patients co-cultured with autologous or allogeneic platelets were highly efficient in stimulating autologous CD4+ T cells proliferaton as compared to those derived from healthy donors (P < 0.05 and P <0.05).

CONCLUSIONDCs may play a role in the pathogenesis of chronic ITP in relation with CD4+CD25+ Treg cells.

Adult ; CD4-Positive T-Lymphocytes ; immunology ; Dendritic Cells ; immunology ; metabolism ; pathology ; Female ; Humans ; Male ; Middle Aged ; Purpura, Thrombocytopenic, Idiopathic ; blood ; immunology

This study was aimed to investigate the effect of 1,25(OH)(2) vitamin D(3) [1,25(OH)(2) Vit D(3)] on the differentiation, maturation and function of human dendritic cells (DC) in vitro and its mechanism. Human peripheral blood mononuclear cells were induced to differentiate to DC in vitro. The DC in test group were cultured with 1,25(OH)(2) Vit D(3) 1 nmol/L for 9 d, while the DC in control group were cultured with the equivalent of absolute alcohol. The expression of co-stimulatory molecules on DC were analyzed by flow cytometry. T cell proliferation induced by DC was assessed by MTT method. The expression of indoleamine 2, 3-dioxygenase (IDO) protein was determined by Western blot. The results showed that compared with the control group, the expression of CD80, CD83 and CD86 on DC in test group was significantly down-regulated (P < 0.05), while the CD1a was up-regulated (P < 0.05). The expression rate of CD80, CD83, CD86, CD1a in test group were (40.43 ± 9.83)%, (20.04 ± 4.73)%, (14.45 ± 5.38)%, (58.48 ± 10.72)% respectively, while in control group were (29.36 ± 13.34)%, (35.91 ± 10.19)%, (27.15 ± 11.64)%, (72.20 ± 12.79)% respectively. Compared with the control group, 1,25(OH)(2) Vit D(3)-treated DC exhibited a markedly reduced ability to stimulate allogenic T cell proliferation and up-regulated IDO protein expression.It is concluded that 1,25(OH)(2) Vit D(3) efficiently inhibits the maturation of DC and DC-mediated T cell proliferation, which may be related to the up-regulation of IDO protein expression.
Cell Differentiation ; drug effects ; Cell Proliferation ; drug effects ; Cells, Cultured ; Cholecalciferol ; pharmacology ; Dendritic Cells ; cytology ; immunology ; Flow Cytometry ; Humans ; Immune Tolerance ; drug effects ; Indoleamine-Pyrrole 2,3,-Dioxygenase ; metabolism

AIMTo investigate the transforming growth factor beta1 (TGF-beta1) and basic fibroblast growth factor (bFGF) expressions in benign prostatic hyperplasia (BPH) and the effect of beta-radiation.

METHODSTGF-beta1 and bFGF expression was studied by means of an immunohistochemical method in nine normal prostatic (NP) tissues, 15 hyperplastic prostatic tissues and 35 hyperplastic prostatic tissues treated with 90Sr/90Y.

RESULTSThe TGF-beta1 expression in the epithelium and stroma of normal prostatic tissues was 68.2 % +/- 10.5 % and 29.7 % +/- 4.6 %, respectively, while it was 64.8 % +/- 9.3 % and 28.6 % +/- 4.1 %, respectively, in hyperplastic prostatic tissues. Compared with the controls, TGF-beta1 expression in the epithelia and stroma of BPH treated with 90Sr/90Y increased significantly (P <0.01). The bFGF expression in epithelia and stroma of normal prostatic tissues was 17.4 % +/- 3.7 % and 42.5 % +/- 6.8 %, respectively, and was 46.3 % +/- 8.2 % and 73.2 % +/- 12.1 %, respectively, in hyperplastic prostatic tissues. Compared with the controls, expressions of bFGF in the epithelia and stroma of BPH treated with a 90Sr/90Y prostatic hyperplasia applicator decreased significantly (P <0.01).

CONCLUSIONExposure of beta-rays had noticeable effects on BPH tissues, enhancing TGF-beta1 expression and inhibiting bFGF expression.

Aged ; Aged, 80 and over ; Beta Particles ; Case-Control Studies ; Fibroblast Growth Factor 2 ; metabolism ; radiation effects ; Gene Expression ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Prostate ; metabolism ; radiation effects ; Prostatic Hyperplasia ; metabolism ; radiotherapy ; Strontium Radioisotopes ; therapeutic use ; Transforming Growth Factor beta ; metabolism ; radiation effects ; Transforming Growth Factor beta1 ; Yttrium Radioisotopes ; therapeutic use

OBJECTIVETo determine the expressions of miR-155, miR-34a and miR-30a in diffuse large B-cell lymphoma (DLBCL) and to explore their potential correlation with clinicopathological characteristics.

METHODSThe expression level of miR-155, miR-34a and miR-30a in 46 DLBCL samples were determined with TaqMan real-time polymerase chain reaction. Interphase fluorescence in situ hybridization (I-FISH) was performed to detect MYC and p53 genes' status, and immunohistochemistry (Envision method) was used to evaluate the expression of CD3, CD10, CD20, BCL-6 and MUM-1 in DLBCL. The DLBCLs were classified into germinal center B cell-like (GCB) and non germinal center B cell-like (non-GCB) subtypes according to Hans' criteria.

RESULTSCompared with normal controls, miR-155 expression level was significantly higher in DLBCL. The expression level of miR-155 in non-GCB type was higher than that in GCB type. It was shown that the patients with MYC rearrangement had lower expression level of miR-155 than the negative controls. Compared with p53 normal group, the expression level of miR-34a was significantly lower in p53 deletion group. It was also shown that the patients with BCL-6 protein expression had lower expression of miR-30a compared with the negative group.

CONCLUSIONmiR-155 expression level is different in normal controls, DLBCL and patients with subtype DLBCL. It therefore has a diagnosis value for DLBCL. miR-34a is of great prognostic significance. miR-155, miR-34a and miR-30a may be potential therapy targets for DLBCL.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; Lymphoma, Large B-Cell, Diffuse ; genetics ; metabolism ; pathology ; Male ; MicroRNAs ; genetics ; metabolism ; Middle Aged ; Proto-Oncogene Proteins c-myc ; genetics ; metabolism ; Tumor Suppressor Protein p53 ; genetics ; metabolism ; Young Adult

OBJECTIVETo investigate BCL-6, MYC and p53 genes abnormalities in diffuse large B-cell lymphoma (DLBCL) and correlate the result with immunosubtypes and prognosis.

METHODSInterphase fluorescence in situ hybridization (I-FISH) was performed to detect the BCL-6, MYC and p53 genes. Immunohistochemistry (Envision method) was used to measure the expressions of CD3, CD10, CD20, BCL-6, MUM -1, BCL-2 and Ki-67 genes in DLBCL. The patients were classified into germinal center B cell-like (GCB) and non-GCB subtypes according to Hans' algorithm.

RESULTSBCL-6 rearrangement was detected in 10 of 46 DLBCL cases. The presence of gene rearrangement had no correlation with BCL-6 protein expression (P= 0.245). Overall survival (OS, P= 0.138) and progression-free survival (PFS, P= 0.095) were not influenced by BCL-6 rearrangement. All MYC rearrangements were detected in GCB type DLBCL. Deletion of p53 gene was detected in 14 cases and was significantly associated with shorter OS (P= 0.046) and PFS (P= 0.043).

CONCLUSIONI-FISH is a rapid, accurate and sensitive method for detecting BCL-6, MYC and p53 abnormalities. No correlation was found between BCL-6 gene rearrangement and BCL-6 protein expression. MYC translocation was more common in GCB type DLBCL compared with non-GCB type ones. Patients with p53 deletion had a poorer prognosis. The p53 gene may provide a useful indicator for the prognosis of DLBCL.

DNA-Binding Proteins ; genetics ; Female ; Genes, p53 ; Humans ; In Situ Hybridization, Fluorescence ; Lymphoma, Large B-Cell, Diffuse ; classification ; genetics ; immunology ; mortality ; Male ; Middle Aged ; Prognosis ; Proto-Oncogene Proteins c-bcl-6 ; Proto-Oncogene Proteins c-myc ; genetics

The aim of this study was to investigate how the killer immune globulin-like inhibition receptor (KIR) in match with HLA-Cw impacts on NK cell activity. Mononuclear cells were isolated in 20 ml peripheral blood from 27 healthy persons by Ficoll-Hypaque and purified by NK cell isolation kit. Target cells were mononuclear cells isolated from bone marrow of 30 de novo AML patients. The KIR expression were detected by flow cytometry with antibodies against CD158a, CD158b. The 2 ml of peripheral blood from healthy persons and AML patients were collected, the DNA was extracted by using PROTRANS method, the HLA-Cw and KIR gene were detected by PCR-SSP typing with sequence specific primers. The NK cell cytotoxicity against AML cells was determined by MTT after combination of KIR with HLA-Cw gene. The results indicated that the purity of NK cells was (90.8 +/- 6.08)%. The less the KIR/HLA-Cw matched, the more activity was shown in NK cells. When no match of NK cell/target cell (KIR/HLA-Cw) there was, the cytotoxicity was (50.66 +/- 8.40)%, 1 or 2 matches showed cytotoxicity of (38.28 +/- 6.71)% and (19.74 +/- 4.15)% (p < 0.001). Expression level of KIRs on NK cells also was related with cytotoxicity level (p < 0.001). It is concluded that the interaction between inhibitory KIR and HLA ligands, and also expression level of KIRs on NK cells both impact significantly on NK cell function, that the less match of KIR/HLA-Cw, and the less expression of KIRs on NK cells result in the stronger NK cell cytotoxicity.
Adult ; Female ; Genotype ; HLA-C Antigens ; genetics ; Humans ; Killer Cells, Natural ; immunology ; metabolism ; Male ; Receptors, KIR ; genetics

Objective To evaluate the effect of PTH gene polymorphisms on bone mineral density (BMD) at multiple skeletal sites in normal females.Methods PTH gene phenotype was determined by PCR-RFLP of restriction enzyme Bst BⅠin 596 females aged (46.3?13.7) years (20-80 years),and PCR products with or without enzymolytic site were considered as genotype B or genotype b respectively.BMDs of the anteropesterior spine (AP) and supine lateral spine (Lat) of lumbar vertebrae (L_1-L_4),femoral neck (FN),total hip (T-hip), Ward's triangle (Ward),Trochanter (Troch),forearm [radius+ulna ultradistal (RUUD) and total area of radius + ulna (RUT) ] were measured by DEXA (QDR4500A).Results (1) Hardy-Weinberg equilibrium was evident for PTH polymorphisms.The frequencies of genotype were BB 0.784,Bb 0.208,bb 0.008 and frequencies of alleles B,b were 0.888 and 0.112 respectively in 596 normal females.Frequencies of BB,Bb,bb genotypes were 0.781,0.210,and 0.009 respectively in 347 postmenopausal women and their frequencies of alleles B,b were 0.886,0.114.No significant difference was found between post- and premenopausal women in genotype frequen- cy.(2) Comparing their BMDs of AP,Lat,FN,T-hip,Ward,Troch,RUUD and RUT,there was no significant difference between BB and Bb genotypes of pre- and postmenopansal women groups.(3) Logistic regression analysis failed to show any statistical difference between normal and osteoporosis women with regard to PTH phenotype.Conclusion PTH gene polymorphism has little effect on BMD in normal females.

BACKGROUND: Visual-spatial neglect (VSN) is a neuropsychological syndrome, and right-hemisphere stroke is the most common cause. The pathogenetic mechanism of VSN remains unclear. This study aimed to investigate the behavioral and event-related potential (ERP) changes in patients with or without VSN after right-hemisphere stroke. METHODS: Eleven patients with VSN with right-hemisphere stroke (VSN group) and 11 patients with non-VSN with right-hemisphere stroke (non-VSN group) were recruited along with one control group of 11 age- and gender-matched healthy participants. The visual-spatial function was evaluated using behavioral tests, and ERP examinations were performed. RESULTS: The response times in the VSN and non-VSN groups were both prolonged compared with those of normal controls (P < 0.001). In response to either valid or invalid cues in the left side, the accuracy in the VSN group was lower than that in the non-VSN group (P < 0.001), and the accuracy in the non-VSN group was lower than that in controls (P < 0.05). The P1 latency in the VSN group was significantly longer than that in the control group (F[2, 30] = 5.494, P = 0.009), and the N1 amplitude in the VSN group was significantly lower than that in the control group (F[2, 30] = 4.343, P = 0.022). When responding to right targets, the left-hemisphere P300 amplitude in the VSN group was significantly lower than that in the control group (F[2, 30] = 4.255, P = 0.025). With either left or right stimuli, the bilateral-hemisphere P300 latencies in the VSN and non-VSN groups were both significantly prolonged (all P < 0.05), while the P300 latency did not differ significantly between the VSN and non-VSN groups (all P > 0.05). CONCLUSIONS Visual-spatial attention function is impaired after right-hemisphere stroke, and clinicians should be aware of the subclinical VSN. Our findings provide neuroelectrophysiological evidence for the lateralization of VSN.
Adult ; Aged ; Cerebral Infarction ; physiopathology ; Electrophysiology ; Female ; Humans ; Male ; Middle Aged ; Neuropsychological Tests ; Nitric Oxide Synthase Type III ; genetics ; PPAR gamma ; genetics ; Perceptual Disorders ; genetics ; metabolism ; physiopathology ; Polymorphism, Genetic ; genetics ; Reaction Time ; genetics ; physiology ; Reactive Oxygen Species ; metabolism ; Stroke ; genetics ; metabolism ; physiopathology ; Superoxide Dismutase ; genetics