0.05 for all).Conclusions The allelic frequencies of LPL gene at Pvu Ⅱ locus in Hei Yi Zhuang were different from those in Han,but the genotypie frequencies in Hei Yi Zhuang were not different from those in Han.There was no significant correlation between the polymorphism of LPL gene at Pvu Ⅱ site and the serum lipid levels in two ethnic groups.

Background: It is well-established that serum testosterone in men decreases with age, yet the underlying mechanism of this change remains elusive. Methods: The expression patterns of Fancd2 opposite-strand (Fancd2os) in BALB/c male mice and testicular tissue derived cell lines (GC-1, GC-2, TM3, and TM4) were assessed using real-time polymerase chain reaction (RT-PCR), Western blot and immunofluorescence. The Fancd2os-overexpressing or knockdown TM3 cells were constructed by infecting them with lentivirus particles and were used to evaluated the function of Fancd2os. The testosterone production was measured using enzyme linked immunosorbent assay (ELISA) and the steroidogenic enzymes such as steroidogenic acute regulatory protein (StAR), P450 cholesterol side-chain cleavage (P450scc), and 3β-hydroxysteroid dehydrogenase (3β-HSD) were analysed using RT-PCR. The apoptosis of TM3 cells induced by ultraviolet light or testicular tissues was detected using flow cytometry, Western blot or dUTP-biotin nick end labeling (TUNEL) assays. Pearson correlation analysis was used to assess the correlation between the Fancd2os expression and TUNEL-positive staining in mouse testicular Leydig cells. Results: The Fancd2os protein was predominantly expressed in mouse testicular Leydig cells and its expression increased with age. Fancd2os overexpression inhibited testosterone levels in TM3 Leydig cells, whereas knockdown of Fancd2os elevated testosterone production. Fancd2os overexpression downregulated the levels of StAR, P450scc and 3β-HSD, while Fancd2os knockdown reversed this effect. Fancd2os overexpression promoted ultraviolet light-induced apoptosis of TM3 cells. In contrast, Fancd2os knockdown restrained apoptosis in TM3 cells. In vivo assays revealed that higher Fancd2os levels and mouse age were associated with increased apoptosis in Leydig cells and decreased serum testosterone levels. Pearson correlation analysis exhibited a strong positive correlation between the expression of Fancd2os and TUNEL-positive staining in mouse testicular Leydig cells. Conclusion Our findings suggest that Fancd2os regulates testosterone synthesis via both steroidogenic enzymes and the apoptotic pathway.

OBJECTIVETo study the relationship between the polymorphism of the variable number of tandem repeats region 3' of the apolipoprotein B gene (3'APOB-VNTR) and serum lipid levels in the Guangxi Heiyi Zhuang population.

METHODSA total of 548 people of Heiyi Zhuang nationatity were surveyed by a cluster sampling. Epidemiological data were collected and serum lipid and apolipoprotein levels were measured. The genotypes and alleles of the 3' APOB-VNTR were determined by polymerase chain reaction combined with gel electrophoresis, and then analyzed by direct sequencing in the most common alleles. The results were compared with those in 496 people of Han nationality also live in that district.

RESULTSThere were 19 alleles of the 3'APOB-VNTR in both ethnic groups. They were hypervariable elements (HVEs) 24, 26, 28, 30, 32, 34, 36, 38, 40, 42, 44, 46, 48, 50, 52, 54, 56, 58, 60, 62 and 64, but HVEs 56 and 58 in Heiyi Zhuang nationality and HVEs 48 and 62 in Han nationality were not be detected. The most common allele is HVE32 in Heiyi and Zhuang nationality (25.9%), and HVE34 in Han nationality (27.2%). The frequencies of HVEs 26, 30, 46, heterozygote, and short alleles (< 38 repeats, S) were higher in Heiyi Zhuang nationality than in Han nationality, whereas the frequencies of HVEs 34, 38, 40, homozygote, and long alleles (>or= 38 repeats, L) were lower in Heiyi Zhuang nationality than in Han nationality. The levels of total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C) and apolipoprotein (apo) B in Heiyi Zhuang nationality were higher in VNTR-LS (carrier of one long and one short alleles) than in VNTR-LL genotypes (the individual carrying two long alleles) genotypes. The levels of TC, triglycerides, HDL-C and apo B in Heiyi Zhuang nationality were also higher in homozygotes than in heterozygotes. There were no significant differences in the detected lipid parameters between the VNTR-SS (carrier of two short alleles) and VNTR-LS or VNTR-LL genotypes in both ethnic groups.

CONCLUSIONThe 3'APOB-VNTR polymorphism is found to be significant difference between Heiyi Zhuang nationality and Han populations, and is associated with the serum lipid levels in Heiyi Zhuang nalionality but not in Han nationality.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Apolipoproteins B ; genetics ; China ; ethnology ; DNA ; analysis ; Ethnic Groups ; genetics ; Female ; Gene Frequency ; Humans ; Lipids ; blood ; Male ; Middle Aged ; Minisatellite Repeats ; genetics ; Polymorphism, Genetic ; Tandem Repeat Sequences ; Young Adult

Objective To study the expression change of pro-brain natriuretic peptide (proBNP) and N-terminal pro-brain natriuretic peptide (NT-proBNP) in sudden death of coronary atherosclerotic heart disease,and to explore its application in forensic diagnosis.Methods Myocardial and blood samples were collected from normal control group,sudden death of coronary atherosclerotic heart disease group and single coronary stenosis group (20 cases in each group).The expression of proBNP in myocardial samples were detected by immunohistochemical staining and Western blotting,and that of BNP mRNA were detected by reverse transcription PCR (RT-PCR).The content of NT-proBNP in plasma were detected by ELISA.Results Immunohistochemical staining showed positive expression of proBNP in both sudden death of coronary atherosclerotic heart disease group and single coronary stenosis group.There was no positive expression in normal control group.For sudden death of coronary atherosclerotic heart disease group and single coronary stenosis group,the relative expression of proBNP protein and BNP mRNA in myocardial tissue and the NT-proBNP content in plasma were higher than that of normal control group (P＜0.05).The NT-proBNP content in plasma of sudden death of coronary atherosclerotic heart disease group was higher than that of single coronary stenosis group (P＜0.05).Conclusion In myocardial ischemia condition,the higher expression of proBNP in cardiac muscle cell shows that the detection of NT-proBNP in plasma can be useful to differentially diagnose the degree of coronary atherosclerotic heart disease and determine whether the sudden death due to coronary atherosclerotic heart disease.

Objective To examine the impact of pregnancy termination before 28 weeks of gestation on the overall prevalence of neural tube defects (NTDs).Methods Data collected during the period of 2004 and 2010 from a birth defects surveillance system in Pingding county and Talgu county of Shanxi province were used.Number of births ≥28 weeks of gestation and number of cases with major birth defects among the births were collected.Terminations of pregnancies before 28 weeks of gestation due to prenatal diagnosis were also collected.The total prevalence of neural tube defects,prevalence before 28 weeks of gestation,and prevalenee of ≥28 weeks gestation were calculated using the total number of pregnancies of ≥28 weeks of gestation as denominator.The prevalence data were compared to examine the impact of pregnancy termination on the total prevalence.The proportions of pregnancy terminations before 28 weeks of gestation due to prenatal diagnosis of an NTD against the total number of NTD cases were also calculated.Results During 2004-2010,52 366 births were recorded,and 485 NTD cases were ascertained.The overall prevalence of NTDs was 92.6 per 10 000 births,with prevalence of ＜28 weeks gestation due to pregnancy terminations as 60.9 per 10 000 births,while the prevalence of ≥28 weeks of gestation was 31.7 per 10 000 births.NTD prevalence of ≥28 weeks gestation was 66.0％ lower than the total NTD prevalence.In the last two years,the proportion of NTDs ascertained ≥28 weeks gestation accounted for about 40.0％ of the total NTD cases.Conclusion A birth-defect-surveillance program that covered only tregnancies ≥28 weeks of gestation resulted in a severe underestimation of the total birth prevalence of NTDs,especially for anencephaly.We would recommend that the current national birth defects surveillance system should include pregnancy terminations before 28 weeks of gestation and the calculation of total NTD prevalence should also include these cases into the numerator,so as to better estimate true population NTD prevalence,upon which the related public health policy is based.

OBJECTIVETo study the prevalence rates of birth defects in high and low risk areas in China.

METHODSA population-based surveillance system on birth defects was used to obtain the prevalence rates of 24 kinds of major external birth defects from > or = 20 weeks of gestation to 7 days of life in selected areas in Shanxi and Jiangsu provinces.

RESULTSThe birth prevalence of birth defects (232.4 per 10,000 births) and neural tube defects (NTDs) (138.7 per 10,000 births) in four counties of Shanxi province were significantly higher than that in Taiyuan city (75.3 and 28.2 per 10,000 births, respectively). There was no significant difference for all selected birth defects between Wuxi city and Xishan counties in low risk areas. There was a 6.1-fold of higher prevalence for NTDs in Taiyuan city compared with that in Wuxi areas (4.6 per 10,000 births). In four counties of Shanxi province, the prevalence rates of anencephaly, spina bifida, hydrocephaly, cleft palate alone and polydactyly were significantly higher than in Wuxi areas. The NTDs prevalence rate in four counties of Shanxi was 30.2 times higher than in Wuxi areas. When compared with previous surveillance data, the NTDs prevalence rate did not present obvious declining trend in high risk areas. The birth prevalence rate had a 31.8% decrease when births were calculated after 28 gestational weeks and compared with those from 20 gestational weeks.

CONCLUSIONNTDs remained to be the most common birth defect seen in Shanxi province. The birth prevalence rate of NTDs in some areas of Shanxi province was among the highest that ever reported in the world in comparison with data from other countries and regions. The current prevalence rate in high risk areas in Shanxi province did not clearly show a declining trend. Programs on surveillance and prenatal diagnosis were proved to have made big impact on the rates of major external birth defects.

China ; epidemiology ; Congenital Abnormalities ; epidemiology ; Female ; Humans ; Male ; Neural Tube Defects ; epidemiology ; Prevalence ; Surveys and Questionnaires

OBJECTIVETo evaluate the value of intraoperative radiation therapy with electrons (ELIOT) in treatment of malignant bone or soft tissue tumors around the joints.

METHODSFrom October 2008 to April 2012, nineteen patients with malignant bone or soft tissue tumors around the joints were treated with ELIOT. The tumors were located around the knee joint in 8 patients, around the hip joint in 6 patients, around the elbow joint in 4 patients and around the shoulder joint in one patient. All of the patients underwent limb salvage surgeries. R0 resections were performed in 18 patients, while R1 resection was performed in one patient. The doses of intraoperative radiation ranged from 10 Gy to 22 Gy. The median dose was 19 Gy. More than one ELIOT fields were used in 10 patients because of the large tumor size.

RESULTSSeven patients suffered wound complications. No grade ≥ 3 acute toxicities were observed. One patient developed radiation ulcer and arterial fistula 15 months after surgery and ELIOT, and resulted in amputation finally (grade 4 late toxicity). The mean Musculoskeletal Tumor Society (MSTS) 93 score was 26.26 ± 4.04 (87.5% ± 13.5%), with excellent to good extremity functions in 18 patients (94.7%). Four patients had local recurrences. The estimated locoregional control rates at 1, 2, and 3 years were 81.9%, 73.7%, and 73.7%, respectively. Seven patients died of the diseases. The estimated overall survivals of the entire group of patients at 1, 2, and 3 years were 76.3%, 61.2%, and 51.0%, respectively.

CONCLUSIONSELIOT is a safe and well-tolerable technique and could be widely used for patients with malignant bone or soft tissue tumors around the joints with acceptable rates of acute and late toxicity. There is positive significance for controlling the tumor local recurrence, preserving the joint function and improving survival quality.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Bone Neoplasms ; radiotherapy ; surgery ; Elbow Joint ; Electrons ; therapeutic use ; Female ; Follow-Up Studies ; Hip Joint ; Humans ; Intraoperative Period ; Knee Joint ; Limb Salvage ; Male ; Middle Aged ; Neoplasm Metastasis ; Neoplasm Recurrence, Local ; Particle Accelerators ; Radiotherapy, Adjuvant ; Soft Tissue Neoplasms ; radiotherapy ; surgery ; Survival Rate ; Young Adult

OBJECTIVETo analyze the complications and short-term outcomes of patients receiving intraoperative electron radiotherapy (IOERT) for locally advanced and recurrent periarticular soft tissue sarcomas of the extremities.

METHODSTwenty-one adult patients with locally advanced and/or recurrent periarticular soft tissue sarcomas of the extremities treated with IOERT were included in this study. Among them 14 patients had recurrent diseases after prior operation and 7 patients with locally advanced disease with primary treatment. The total dose of radiation ranged from 11 Gy to 21 Gy of 6 - 12 MeV beta ray given by intraoperative radiotherapy after complete tumor resection with negative margins. Five patients were given external beam radiotherapy (EBRT) with a total dose of 40 - 50 Gy, and 10 patients received chemotherapy.

RESULTSThe median follow-up time was 15 months. Five patients (23.8%) had tumor relapse, including one patients with local recurrence, one patient with regional recurrence, two patients with distant metastasis and one patient with local recurrence and distant metastasis. The actuarial local control rate at 1 year was 95.2% (20/21), and at 2 years was 90.5% (19/21). Acute skin toxicity (RTOG) within 3 months after surgery included grade I in 6 patients and grade II in 3 patients. Two year late skin toxicity (RTOG/EORTC) included grade I in 4 patients and grade II in 2 patients. Fibrosis included grade I in 3 patients and grade II in 3 patients. Six patients had joint dysfunction (3 patients with grade I and 3 with grade II) and 6 patients had healing problems. One patient got ipsilateral schiatic neuritis 9 months after IOERT. No adverse events occurred during surgery.

CONCLUSIONSIOERT brings tolerable complications of acute and late toxicities and favorable local control rate. IOERT should be followed by postoperative radiotherapy or increase the intraoperative radiation dose for locally advanced and recurrent sarcomas to get a better local control. Otherwise, distant metastasis is one of the main reasons of treatment failure, so chemotherapy should be added to the treatment regimen.

Adolescent ; Adult ; Aged ; Atrophy ; etiology ; Electrons ; adverse effects ; therapeutic use ; Extremities ; Female ; Fibrosis ; etiology ; Follow-Up Studies ; Humans ; Intraoperative Period ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; radiotherapy ; surgery ; Neoplasm, Residual ; radiotherapy ; Radiotherapy Dosage ; Radiotherapy, Adjuvant ; adverse effects ; Sarcoma ; drug therapy ; radiotherapy ; surgery ; Skin ; pathology ; Young Adult

The present study was aimed to investigate whether Gasdermin D (GSDMD)-mediated pyroptosis participated in lipopolysaccharide (LPS)-induced sepsis-associated acute kidney injury (AKI), and to explore the role of caspase-1 and caspase-11 pyroptosis pathways in this process. The mice were divided into four groups: wild type (WT), WT-LPS, GSDMD knockout (KO) and KO-LPS. The sepsis-associated AKI was induced by intraperitoneal injection of LPS (40 mg/kg). Blood samples were taken to determine the concentration of creatinine and urea nitrogen. The pathological changes of renal tissue were observed via HE staining. Western blot was used to investigate the expression of pyroptosis-associated proteins. The results showed that the concentrations of serum creatinine and urea nitrogen in the WT-LPS group were significantly increased, compared with those in the WT group (P < 0.01); whereas serum creatinine and urea nitrogen in the KO-LPS group were significantly decreased, compared with those in the WT-LPS group (P < 0.01). HE staining results showed that LPS-induced renal tubular dilatation was mitigated in GSDMD KO mice. Western blot results showed that LPS up-regulated the protein expression levels of interleukin-1β (IL-1β), GSDMD and GSDMD-N in WT mice. GSDMD KO significantly down-regulated the protein levels of IL-1β, caspase-11, pro-caspase-1, caspase-1(p22) induced by LPS. These results suggest that GSDMD-mediated pyroptosis is involved in LPS-induced sepsis-associated AKI. Caspase-1 and caspase-11 may be involved in GSDMD cleavage.
Animals ; Mice ; Acute Kidney Injury ; Caspase 1 ; Caspases/metabolism* ; Creatinine ; Lipopolysaccharides ; Mice, Knockout ; Nitrogen ; Sepsis ; Urea ; Gasdermins/metabolism*