Herpesvirus 4, Human ; Humans ; Lymphohistiocytosis, Hemophagocytic ; virology

Objective To detect the methylation status of the promoter of BNIP3 gene in gastric cancer cell lines MKN1,and to explore the mecha?nism of DNA methylation regulating the expression of BNIP3 in gastric cancer cells. Methods The methylation status of BNIP3 promoter was de?tected by bisulfate sequencing PCR. Reverse transcription PCR was used to evaluate BNIP3 mRNA expression. MKN1 cells were treated with 5?Aza?2′?deoxycytidine(5?Aza?CdR),and after the treatment,the methylation status and BNIP3 mRNA expression were observed. Chromatin immuno?precipitation(ChIP)was used to determine the combination of BNIP3 with DNA methyltransferase 1(DNMT1). Results The promoter DNA of BNIP3 in MKN1 cells was in state of hypermethylation. Compared to the control group,methylation status and mRNA expression of BNIP3 in the drug treatment group(the 5?Aza?CdR concentration was 10μmol/L)were reversed,which showed statistical differences(P<0.05). 5?Aza?CdR inhibited the combination of BNIP3 with DNMT1. Conclusion CpG island methylation regulates BNIP3 gene expression in MKN1 cells. DNA methylation is related with the binding between the promoter of BNIP3 and DNMT1.

OBJECTIVETo assess the exposure level of total N-nitroso compounds (TNOCs) in the residents of high- and low-risk areas for esophageal cancer in southern China.

METHODSSamples of duplicate plate diets and 12 hr overnight urine were collected from 120 male adults in each of the 2 areas, a high-risk area (Nanao county) and a low-risk area (Lufeng county) for esophageal cancer. The 240 male healthy subjects (35 - 64 years old) were selected by a 3-stage random cluster sampling procedure. Levels of TNOC, N-nitrosamino acids (NAAs) and volatile N-nitroso compounds (VNOC) in the samples were measured by Thermo Energy Analyzer.

RESULTSThe detectable rate (95%) of diet TNOC, daily dietary TNOC intake (4.25 +/- 0.84) micromol/day, 12-hr urinary TNOC excretion levels (1.76 +/- 0.23 ng/12 h) and daily dietary intake of VNOC (266 +/- 31.2 microg/day) in the high-risk area were all significantly higher than those of the low-risk area. Oesophageal cancer mortality rates were positively and significantly associated with daily dietary TNOC intake and 12-hr urinary TNOC excretion. Urinary NAAs excretion levels were not different in the two areas.

CONCLUSIONThe results suggest that TNOCs may be implicated in the etiology of esophageal cancer in southern China.

Adult ; China ; Esophageal Neoplasms ; etiology ; mortality ; Humans ; Male ; Middle Aged ; Nitroso Compounds ; administration & dosage ; adverse effects ; urine

Objective To summarize the clinical characteristics,diagnosis and treatment of pulmonary sequestration(PS) in children.Methods The clinical data of 19 children with PS confirmed by operation and(or) imaging examination from Mar.2003 to May.2008 were analyzed retrospectively.Thirteen cases were male,and 6 cases were female.One case was newborn infant.Seventeen cases received operation.Intralober type had a pulmonary lobectomy and extralobar type had a sequestrectomy.Chest X-ray and CT scan examinations were performed on the patients before operation.Results Seventeen cases got complete cure by operation,and the mean age at operation was 5.2 years.Chest enhanced CT indicated abnormal feeding arteries.Lobectomy was performed in 13 cases of intralobar PS,4 cases of extralobar PS were resected in the separated lung tissue,and all patients had unilateral lesions.No late deaths occurred in this group except 1 case who was complicated with malformation,and the postoperative follow-up showed an excellent recovery.Conclusions The main diagnostic methods of PS are CT and angiography.The diagnosis of PS can be confirmed when systemic feeding arteries are indicated on enhanced CT scans.Surgical resection is the main choice of treatment in all cases of PS in order to prevent recurrent infection and hemoptysis.The excellent results can be obtained by surgery.

0.05),the MTT values were(5.2?1.1)and(10.9?2.6)s, respectively(t=7.24,P

OBJECTIVETo evaluate the available surgical treatment modalities so as to explore the optimal strategy of managing early breast cancer.

METHODSThe clinical data of 2173 consecutive early-stage breast cancer patients treated by surgery treatments were retrospectively reviewed in order to clarify the indications and contraindications of different modalities. Therapeutic outcome of different surgical treatment modes were compared in terms of recurrence-free survival ( RFS) , disease-free survival ( DFS) , overall survival (OS). The cosmetic results of breast conservation and reconstruction were also evaluated .

RESULTSThe median age of these patients was 51 years ranging from 18 to 91. Of 2173 patients, 547 had stage 0- I lesions and 1626 stage II , and 1155 (53. 2% ) premenopausal. The proportion of patients who received radical surgery, breast conservation and reconstruction after mastectomy was 83. 6% (1817/2173), 10. 5% (229/2173) and 2. 5% (55/2173) , respectively. Younger and premenopausal patients prefer conservative and reconstructive surgeries, which are reasonable for stage 0-I and non-invasive breast cancer patients. Conservative surgery was not suitable for Paget's disease of breast (P = 0. 004) , mastectomy followed by reconstruction in this type of cancer was up to 38. 5%. The recurrence and metastasis rate of conservation or mastectomy were similar with a comparable 3-year RFS of 97. 4% and 95. 4% , respectively; there were also no significant differences in RFS(P =0. 2435) , DFS( P =0. 1395) and OS(P =0. 9406) after having been followed for 3 to 64 months. Similarly, immediate reconstruction did not show any negative effects with only 1 recurrence and 1 metastasis. Aesthetic outcomes were assessed as excellent or good in 90. 0% of breast conservation surgery, and the acceptability of reconstruction was 94. 5%.

CONCLUSIONBreast conserving surgery not only has comparable survival as mastectomy, but also has better cosmetic outcomes. Immediate breast reconstruction can be a suitable option without compromising survival. It is very important in the management for early breast cancer by selecting the most suitable surgery mode for every individual patient not only to cure her disease but also to satisfy the patient psychologically. Conservation should be preferred prior to reconstruction whenever possible.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Breast Neoplasms ; pathology ; surgery ; Carcinoma, Ductal, Breast ; pathology ; surgery ; Carcinoma, Intraductal, Noninfiltrating ; pathology ; surgery ; Disease-Free Survival ; Female ; Follow-Up Studies ; Humans ; Lymphatic Metastasis ; Mastectomy ; methods ; Middle Aged ; Neoplasm Recurrence, Local ; Neoplasm Staging ; Paget's Disease, Mammary ; pathology ; surgery ; Reconstructive Surgical Procedures ; Retrospective Studies

Objective To study the PINK1 aggresome formation and it's features in response to proteasomal inhibition.Methods Full-length PINK1 cDNA were amplified by polymerase chain reaction (PCR)from fetus brain cDNA library and subcloned into the EcoR I and BamH I sites of the vector pEGFP- N1.The integrity of the constructs was confirmed by sequencing.COS-7 cells were transiently transfected with PINK1-pEGFP-N1 using Lipofectamine 2000.Cells were treated by MG-132 in order to test the effect of proteasome inhibition on aggregation formation.The protein level of wild-type PINK1 with or without MG-132 treatment was confirmed by Western blot analysis.The formation of PINK1 aggregates was tested by fluorescence and the presence of ubiquitin,and ?-synuclein in PINK1 aggregates was examined by immunofluorescence and confocal microscopy.Results The expression level of PINK1 was significant increased into the form of aggregate in cells treated with MG-132;immunostaining for endogenous ubiquitin and ?-synuclein revealed a co-localization of both proteins in PINK1-positive aggregates.Conclusions In the presence of MG-132,overexpressed PINK1 forms into aggregates,whose components are ubiquitin and ?-synuclein.

BACKGROUNDThe clinical characteristics of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) are largely unreported in the pediatric patients in mainland of China. The main aim of this study was to recognize the clinical features of EBV-HLH in children and to explore its prognosis and risk factors.

METHODSA retrospective study was performed on 78 pediatric patients with EBV-HLH who were admitted to Beijing Children's Hospital between 2003 and 2008. All patients' medical records were reviewed and analyzed. For each patient, demographic, clinical, laboratory and outcome information was collected. Statistical analysis was conducted via multivariate and univariate analysis.

RESULTSThe age of onset peaked between 1 - 2 years and boys were more likely developed EBV-HLH. EBV-HLH occurred mainly in the serological pattern with EBV nuclear antigen (EBNA) positive (70.5%). The overall fatality of the disease was 56.7%. Twelve of the 39 fatalities (30.8%) died rapidly within 2 months after diagnosis. Multivariate analysis revealed that not receiving chemotherapy (P = 0.002), > or = 4 weeks of illness prior to diagnosis (P = 0.004), and albumin levels < 20 g/L (P = 0.045) significantly predicted an increased fatality risk.

CONCLUSIONSEBV-HLH is a severe disease with a high fatality rate that occurs mainly in the serological pattern with EBNA positive. Early initiation of chemotherapy and timely diagnosis significantly improves survival rate. Practical strategies should focus on reducing the likelihood of early death.

Adolescent ; Child ; Child, Preschool ; China ; Female ; Herpesvirus 4, Human ; pathogenicity ; Humans ; Infant ; Lymphohistiocytosis, Hemophagocytic ; drug therapy ; therapy ; virology ; Male ; Retrospective Studies ; Risk Factors

Objective To assess the frequency of different subtype of spinocerebellar ataxias (SCAs) in Chinese Han population. Methods The nueleotide repeat mutations of SCA1, SCA2, SCA3/ MJD, SCA6, SCAT, SCA8, SCA10, SCA12, SCA17 and dentatorubral-pallidoluysian atrophy (DRPLA) were detected by the polymerase chain reaction (PCR), denaturing polyacrylamide gel electrophoresis (PAGE), Southern blot, recombinant DNA technology by T-vector cloning and direct sequencing technique in a cohort of 559 Mainland Chinese patients affected by spinocerebellar ataxia, including 363 families with autosomal dominant SCA (AD-SCA) and 196 sporadic cases. Results Among the 363 AD-SCA families, 15 families (4. 13%) were positive for SCA1, 26 (7. 16%) for SCA2, 187 (51.52%) for SCA3/MJD, 6 (1.65%) for SCA6, 7 (1.93%) for SCA7, 1 (0. 28%) for SCA12 and 1 (0. 28%) positive for SCA17; 120(33. 06%) were negative for all the tested SCAs. There were 2 (1.02%) SCAI, 3 (1.53%) SCA2, 15 (7. 65%) SCA3/MJD, 3 (1.53%) SCA6 and 173 (88.27%) not identified in the 196 sporadic SCA patients. None of the SCA8, SCA10 and DRPLA mutation was found. Conclusions SCA3/MJD is a substantially common subtype of AD-SCAs and sporadic SCA in Chinese Han patients with SCAs, subsequently followed by SCA2, SCA1, SCAT and SCA6; SCA12 and SCA17 are uncommon subtypes, while SCA8, SCA10, and DRPLA are rare, if not absent. SCA17 subtype was initially identified in mailand China. Some other genes might be causative in those unidentified AD-SCA pedigrees, and other etiological factors besides genetic cause might contribute for those sporadic cases.

Objective To investigate the spectrum and features of parkin gene mutations in Chinese patients with sporadic early-onset Parkinsonism (EOP) in southern China.Methods All 156 Han Chinese patients with sporadic EOP were screened for mutations in parkin gene using SYBR Green Ⅰ Real-time PGR combined with sequencing of the entire coding region of the gene.Results Nineteen cases carried parkin mutations, including 2 homozygous, 2 compound heterozygous and 15 heterozygous mutations.Seventeen parkin gene rearrangement mutations ( 12 exon deletions and 5 exon duplications) and three small sequence mutations (ⅣS9 + 18C ＞ T,c.202-203delAG and c.813delT) were identified.The c.813delT is a novel mutation.The segment between exon 1 and 7 are mutational hot spot.Cases with parkin mutations showed no difference in initial symptoms, cardinal symptoms and disease severity, compared with cases without parkin mutations.But patients with parkin mutations showed significant earlier onset age ( ( 40.9 ± 6.8 ) years vs (35.5 ± 10.0) years, Z = -2.271, P ＜0.05) and longer disease duration ( (4.4 ±3.6) years vs (7.6 ±4.0) years,Z = - 3.680, P ＜ 0.05 ) than those without parkin mutation.Conclusions The frequency of parkin gene mutation was 12.18% in Han Chinese patients with sporadic EOP.Rearrangement mutation may be the predominant type of mutations.The exon deletion is a main mutation style.The sequence fragment between exon 1 and 7 of the parkin gene are mutational hot spots.There were no significant differences in clinical features between cases with parkin mutation and those without.However, our patient with parkin mutations showed a significantly earlier onset age, longer disease duration and slower progression than those without parkin mutation.