To investigate the relationship between HLA-DQB1* alleles and major beta-thalassemia, the HLA-DQB1* loci typing was performed with polymerase chain reaction-sequence specific primer (PCR-SSP) in 42 unrelated (unconsanguineous) patients with major beta-thalassemia and 45 normal control individuals in Guangdong Province. Results showed that the frequency of HLA-DQB1*06 allele in patient group (19.0%) was higher than that in the control group (4.4%) kappa(2) = 8.961, p < 0.01). Our data suggests that HLA-DQB1*06 allele is associated with pathogenesis of the major beta-thalassemia in Guangdong area.
Alleles ; Asian Continental Ancestry Group ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; HLA-DQ Antigens ; genetics ; HLA-DQ beta-Chains ; Humans ; Male ; beta-Thalassemia ; genetics

OBJECTIVETo detect the levels of serum amyloid A (SAA) and explore the pathogenesis of cardiovascular diseases in patients with obstructive sleep apnea syndrome (OSAS).

METHODSPolysomnography was performed in 80 patients with OSAS and 20 control subjects matched for age and body mass index. The patients with OSAS were divided into mild OSAS group (n=22), moderate OSAS group (n=23) and severe OSAS group (n=35) according to the apnea hypopnea index (AHI). Serum amyloid A levels were measured in all the subjects by enzyme-linked immunosorbent assay for correlation analysis.

RESULTSSerum amyloid A levels in mild OSAS group (1.66-/+0.73 microg/ml), moderate OSAS group (2.72-/+1.12 microg/ml) and severe OSAS group (4.08-/+1.85 microg/ml) were significantly higher than those in the control group (0.66-/+0.59 microg/ml) (P<0.05). SAA levels also differed significantly between the 3 OSAS groups (P<0.01), increasing with the severity of OSAS. Correlation analysis indicated that SAA level was positively correlated to AHI (r=0.649, P<0.01) and TSaO(2)<90% (r=0.491, P<0.01), but inversely yo miniSaO(2) (r=-0.499, P<0.01). After 3 months of nCPAP therapy, SAA levels were significantly decreased in the 20 patients with severe OSAS (4.13-/+2.27 microg/ml vs 5.14-/+2.30 microg/ml, P<0.01).

CONCLUSIONSAA levels are elevated in OSAS patients in close correlation to the severity of OSAS, which may contribute to the vulnerability of the patients to cardiovascular diseases. nCPAP therapy help reduce the risk for cardiovascular diseases in OSAS patients.

Adult ; Aged ; Cardiovascular Diseases ; complications ; pathology ; Case-Control Studies ; Female ; Humans ; Male ; Middle Aged ; Polysomnography ; Serum Amyloid A Protein ; metabolism ; Sleep Apnea, Obstructive ; complications ; diagnosis ; metabolism

BACKGROUNDTreatment for malignant glioma generally consists of cytoreductive surgery followed by radiotherapy and chemotherapy. In this study, we intended to investigate the effects of 2-propylpentanoic acid (VPA), a histone deacetylase inhibitor, on chemosensitivity and radiosensitivity in human glioma cell lines.

METHODSHuman glioma cell lines, T98-G, and SF295, were treated with temozolomide (TMZ) or irradiation (IR), with or without VPA (1.0 mmol/L). Then, cytotoxicity and clonogenic survival assay was performed. Cell cycle stage, apoptosis, and autophagy were also detected using flow cytometry and dansyl monocadaverin (MDC) incorporation assay. One-way analysis of variance (ANOVA) and t-test were used to analyze the differences among variant groups.

RESULTSMild cytotoxicity of VPA was revealed in both cell lines, T98-G and SF295, with the 50% inhibiting concentration (IC50) value of (3.85 ± 0.58) mmol/L and (2.15 ± 0.38) mmol/L, respectively; while the IC50 value of TMZ was (0.20 ± 0.09) mmol/L for T98-G and (0.08 ± 0.02) mmol/L for SF295. Moreover, if combined with VPA (1.0 mmol/L) for 96 hours, the sensitivity of glioma cells to TMZ was significant increased (P < 0.05). The surviving fractions at 2 Gy (SF2) of T98-G and SF295 cells exposed to IR alone were 0.52 and 0.58. However, when VPA was combined with IR, the SF2 of T98-G and SF295 dropped to 0.39 (P = 0.047) and 0.49 (P = 0.049), respectively. Treatment with VPA plus TMZ or IR also resulted in a significant decrease in the proportion of cells in the G2 phase and increased apoptotic rates as well as autophagy in T98-G and SF295 cell lines (P < 0.01).

CONCLUSIONVPA may enhance the activities of TMZ and IR on glioma cells possibly through cell cycle block and promote autophagy, and thus could be a potential sensitizer of glioma treatment.

Apoptosis ; drug effects ; radiation effects ; Blotting, Western ; Cell Line, Tumor ; Cell Survival ; drug effects ; radiation effects ; Dacarbazine ; analogs & derivatives ; pharmacology ; Flow Cytometry ; Glioma ; metabolism ; Histone Deacetylase Inhibitors ; pharmacology ; Humans ; Valproic Acid ; pharmacology

OBJECTIVEComprehensive use of molecular cytogenetic techniques for the detection of 1 case of small chromosome translocation.

METHODSFollowing conventional chromosome preparation, G-banding karyotype analysis, spectral karyotyping (SKY), whole chromosome painting, two-color fluorescence in situ hybridization (FISH) and subtelomeric probe FISH were performed.

RESULTSG-banded karyotype was 46, XX, ?(22q11.3), SKY karyotype analysis was 46, XX, der (4)t(4;6) and found no abnormalities on chromosome 22, staining signal was not found with any abnormalities on chromosome 6. Two-color FISH indicated a chromosomal translocation segment of 22q13.3 to one end of the short arm of chromosome 4. Subtelomeric FISH probe showed the end of the long arm of chromosome 22 and the end of the short arm of chromosome 4 reciprocal translocation. High resolution G-banding and FISH result indicated 46, XX, t(4;22)(p15.3;q13.2).

CONCLUSIONThe testing of small chromosomal translocation should be combined with clinical information and integrated use of molecular cytogenetic techniques to improve the accuracy of diagnosis of chromosomal diseases.

Adult ; Chromosome Banding ; Chromosomes, Human, Pair 22 ; genetics ; Chromosomes, Human, Pair 4 ; genetics ; Cytogenetic Analysis ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Spectral Karyotyping ; Translocation, Genetic ; genetics

OBJECTIVETo investigate the mRNA expressions of RASSF1A, Galectin-3 and TPO in papillary thyroid carcinoma and some other thyroid benign lesions, and evaluate their diagnostic significance.

METHODSReverse transcription polymerase chain reaction (RT-PCR) was used to detect the mRNA expression of RASSF1A, galectin-3 and TPO in the samples from 73 cases, including 23 cases with papillary thyroid cancer, 16 with nodular goiter, 29 with thyroid adenoma and 5 with Hashimoto's disease.

RESULTSA statistically significant difference in the mRNA expression of RASSF1A, Galectin-3 and TPO was observed between papillary thyroid carcinoma and follicular benign lesions (P<0.05). However, there was no significant difference among various kinds of benign lesions (P>0.05). A negative correlation of the expression of RASSF1A and Galectin-3 mRNA was found between thyroid benign lesions and malignant ones (P = 0.000). While the mRNA expression of RASSF1A and TPO was positively correlated between benign and malignant lesions (P = 0.028).

CONCLUSIONLoss of expression of RASSF1A and TPO mRNA but high expression of Galectin-3 mRNA in papillary thyroid carcinoma are common. Therefore, the products of these three genes may be closely related to the development of thyroid papillary carcinoma, and may be used as useful markers in differential diagnosis of papillary thyroid carcinoma from the benign lesions. The results are more reliable if this detection method is used in combination with other techniques.

Adolescent ; Adult ; Aged ; Autoantigens ; genetics ; metabolism ; Biomarkers, Tumor ; metabolism ; Carcinoma, Papillary ; genetics ; metabolism ; pathology ; Diagnosis, Differential ; Female ; Galectin 3 ; genetics ; metabolism ; Goiter, Nodular ; genetics ; metabolism ; pathology ; Hashimoto Disease ; genetics ; metabolism ; pathology ; Humans ; Iodide Peroxidase ; genetics ; metabolism ; Iron-Binding Proteins ; genetics ; metabolism ; Male ; Middle Aged ; RNA, Messenger ; metabolism ; Thyroid Neoplasms ; genetics ; metabolism ; pathology ; Tumor Suppressor Proteins ; genetics ; metabolism ; Young Adult

OBJECTIVETo study the relationship of Blimp-1 hypoexpression with abnormality of Treg level and pathogenesis of aplastic anemia (AA).

METHODSThe mouse model with AA was established by adminis tration of IFN-γ combined with busulfan. The samples were collected at different day establishing AA model, and the spleen Treg number was detected, the Treg cells were sorted and expression level of prdm-1 was detected.

RESULTSThe number of Tregs in mice with AA was lower than that in control mice, moreover, the level of Treg decrease positively correlated with the AA severity (r=0.805), the higher the expression level of prdm-1, the higher the ratio of Treg/lymphocytes, showing positive correlation between them (r=0.548).

CONCLUSIONBlimp-1 expression may promote the proliferation and differentiation of Treg. The hypoexpression of Blimp-1 mediates the pathogenesis of AA and promotes progression of AA through reducing the proliferation of Treg, and decreacing the number of Treg.

BACKGROUNDPrevalence of inadequate glycaemic control among patients with type 2 diabetes mellitus (T2DM) remains high. We assessed glycaemic control in the real-life practice among people with T2DM in metropolises in China who were treated with oral antidiabetic drugs (OAD) alone and to determine factors associated with inadequate glycaemic control in this population.

METHODSAn observational, cross-sectional multicentre study was conducted in 16 metropolitan medical centers. People with T2DM who had been followed-up before the index visit which occurred from January to September 2007 were included in the study. All subjects were ≥ 30 years of age at the time of T2DM diagnosis and had received monotherapy or combination therapy of OAD for at least 6 months. Demographic and clinical data were collected from medical records. The main study outcome was the inadequate glucose control rate, which was calculated by the proportion of patients with haemoglobin A(1C) (HbA(1C)) ≥ 6.5% detected on the index visit.

RESULTSIn this cohort of 455 patients with T2DM whose mean age was 60.6 years and mean disease duration was 6.1 years, 45.5% had inadequate glycaemic control. The mean (SD) HbA(1C) was 6.7% (1.3). Multivariate Logistic regression showed that physical inactivity, disease duration > 10 years, body mass index (BMI) ≥ 24 kg/m(2), low homeostasis model assessment of β-cell function (HOMA-β) index, less frequency of medical visit and hypertriglyceridaemia were independent determinants of inadequate glycaemic control. Higher incidence of self-reported hypoglycemia experience (47.1% vs. 34.8%, P = 0.008) and more fear of hypoglycemia quantified by Worry subscale of the Hypoglycaemia Fear Survey (HFS) II were happened in subjects with good glycemic control.

CONCLUSIONApproximately one half of these outpatients with T2DM from the metropolitan medical centers in China had inadequate glycaemic control treated with OAD alone, which raises the need for more effective educational and therapeutic approaches on management of hypertriglycemia, enhancing physical exercise and weight control, and at the same time, lowering the hypoglycemic risk and diminishing the hypoglycemic fear of patients.

Aged ; Asian Continental Ancestry Group ; Blood Glucose ; drug effects ; Cross-Sectional Studies ; Diabetes Mellitus, Type 2 ; blood ; drug therapy ; metabolism ; Female ; Glycated Hemoglobin A ; Humans ; Hypoglycemic Agents ; therapeutic use ; Logistic Models ; Male ; Middle Aged

This study was purposed to compare the efficacy and safety of two different doses of rabbit anti-thymocyte globulin (r-ATG) combined with cyclosporine (CsA) for treating children with severe aplastic anemia (SAA). From January 2005 to July 2010, a total of 95 children with SAA accepted intensive immunosuppressive therapy (IIST) in our department, out of them 55 cases were treated with r-ATG 2.5 mg/(kg·d) for 5 days in combination with CsA (group I) and other 40 cases were treated with r-ATG 3.5 mg/(kg·d) for 5 days in combination with CsA (group II). The responsive rate, adverse reactions, early mortality, relapse and clonal disease were analyzed retrospectively and results between the two groups were compared. Out of 95 patients 43 were boys and 52 were girls, their ages were from 1 to 16 years. The sex, age, severity and course of the disease were comparable between the two groups. The results showed that after treating for 3 and 6 months, the response of patients in group II was higher than that of patients in group I (50% vs 32.1%, P = 0.08 and 65% vs 45.3%, P = 0.059), at 9 and 12 months the response rate of patients in group II and group I did not show significant difference (70.0% vs 71.1%,P = 0.904 and 82.5% vs 80.8%,P = 0.832); at 12 months of treatment, the complete response rate of patients in group II was significantly higher than that of patients in group I (40.0% vs 23.1%,P = 0.08); at 3, 6, 9 months of treatment, the complete response rate of 2 groups showed no obvious difference. The incidence of serum disease, early infection and early mortality did not show statistical difference between two groups. There was no statistical difference in 2 year overall survival rate of two groups. In group I 39 patients were followed-up for more than 2 years, among them 3 patients relapsed, 1 patient died and 1 patient was diagnosed as acute monocytic leukemia (M5). In group II 15 patients were followed up for more than 2 years, there were no relapse, death and clonal disease. It is concluded that the r-ATG combined with CsA is an effective and safe therapeutic regimen for the SAA children. The effect of r-ATG 3.5 mg/(kg·d) is better than the 2.5 mg/(kg·d). The early safety is comparable between the two groups. However, the long-term effect, complications and survival rate need longer follow-up study to evaluate.
Anemia, Aplastic ; drug therapy ; Animals ; Antilymphocyte Serum ; administration & dosage ; Child ; Cyclosporine ; therapeutic use ; Drug Combinations ; Female ; Follow-Up Studies ; Humans ; Immunosuppressive Agents ; therapeutic use ; Leukemia, Monocytic, Acute ; Male ; Rabbits ; Retrospective Studies ; Survival Rate ; Treatment Outcome

OBJECTIVETo analyze the clinical and pathological features of patients with liver retransplantation.

METHODSThe clinical and pathological data of 22 patients who had liver retransplantation at our center from October 2003 to June 2006 were retrospectively analyzed.

RESULTSAmong the 523 patients who underwent liver transplantation, 22 (4.4%) had liver retransplantation. The causes of liver retransplantation were biliary tract complications (13/22), hepatic artery thrombosis (3/22), recurrence of hepatocellular carcinoma (5/22) and nonfunctional primary graft (1/22). The pathological changes in the livers of patients with biliary complications were intrahepatic cholestasis, primary bile duct hyperplasia and neutrophil infiltrations.

CONCLUSIONBiliary tract complications are the main cause of liver retransplantation. Differential diagnosis of various complications through early liver puncture biopsy and imaging examination will contribute to guide clinical treatment and may help in avoiding liver retransplantation.

Adult ; Aged ; Female ; Graft Survival ; Humans ; Liver ; pathology ; Liver Transplantation ; Male ; Middle Aged ; Reoperation ; Retrospective Studies ; Transplants

BACKGROUND AND OBJECTIVEEpstein-Barr virus (EBV) has been detected in about 10% of gastric carcinomas. However, the pathogenetic role of EBV in gastric carcinoma is uncertain. This study was to explore the correlation of Fas/FasL expression to the apoptosis of tumor cells and tumor-infiltrating lymphocytes (TIL) in EBV-associated gastric carcinoma (EBVaGC).

METHODSFas/FasL expression in 49 specimens of EBVaGC, 20 specimens of EBV-negative gastric carcinoma (EBVnGC) and 12 specimens of normal gastric mucosa was detected by immunohistochemistry. The apoptotic index (AI) of cells was determined by terminal deoxynucleotidyl transferase (TdT)-mediated dUTP-biotin nick end labeling (TUNEL).

RESULTSThe positive rates of Fas were 91.7% in normal gastric mucosa and 76.8% in gastric carcinoma (P < 0.05); those of FasL were 16.7% in normal gastric mucosa and 58% in gastric carcinoma (P < 0.05). The positive rate of Fas was significantly lower in EBVaGC than in EBVnGC (71.4% vs. 90.0%, P < 0.05). The positive rate of FasL in EBVaGC was significantly higher than that in EBVnGC (63.2% vs. 45%, P < 0.05). The AI of EBVaGC cells was significantly lower than that of EBVnGC cells (P = 0.002). The number and AI of TIL in EBVaGC were higher than those in EBVnGC (P < 0.05). The AI of TIL was positively correlated with the level of FasL expression in tumor cells (r=0.237, P = 0.028).

CONCLUSIONUp-regulation of FasL expression and decrease of TIL apoptosis in EBVaGC may facilitate the escape of tumor cells from the host immunosurveillance, and it might contribute to the development and progression of carcinoma.

Adult ; Apoptosis ; Epstein-Barr Virus Infections ; Fas Ligand Protein ; metabolism ; Female ; Herpesvirus 4, Human ; isolation & purification ; Humans ; Immunohistochemistry ; Immunologic Surveillance ; In Situ Nick-End Labeling ; Lymphocytes, Tumor-Infiltrating ; pathology ; Male ; Middle Aged ; Stomach Neoplasms ; metabolism ; pathology ; virology ; Tumor Escape ; fas Receptor ; metabolism