OBJECTIVE To explore the origin and morphological features of small supernumerary marker chromosomes (sSMCs) in Turner syndrome. METHODS For 5 cases of Turner syndrome with a sSMC identified by conventional G-banding, dual-color fluorescence in situ hybridization (FISH) was applied to explore their origin and morphological features. RESULTS Among the 5 cases, 3 have derived from the X chromosome, which included 2 ring chromosomes and 1 centric minute. For the 2 sSMCs derived from the Y chromosome, 1 was ring or isodicentric chromosome, while the other was an isodicentric chromosome. CONCLUSION The sSMCs found in Turner syndrome have almost all derived from sex chromosomes. The majority of sSMCs derived from the X chromosome will form ring chromosomes, while a minority will form centric minute. While most sSMC derived from Y chromosome may exist as isodicentric chromosomes, and a small number may exist as rings. For Turner syndrome patients with sSMCs, dual-color FISH may be used to delineate their origins to facilitate genetic counseling and selection of clinical regime.

OBJECTIVETo investigate the clinical significance of interleukin-17 (IL-17) level in patients with extranodal NK/T-cell lymphoma(ENKTL).

METHODSEighty patients with nasal ENKTL who received radiotherapy, chemotherapy or radiotherapy combined with chemotherapy from January 2011 to January 2012 were enrolled in the study. Eighty healthy volunteers were selected as the controls (control group). About 5 ml of peripheral blood was collected from all patients and controls. IL-17 level was determined by ELISA. The age, sex, ECOG score, B symptoms, LDH level, lymph node involvment, Ann Arbor stage, IPI, KPI, peripheral blood lymphocyte and lymph node metastasis, number of lymphocytes and monocytes in peripheral blood were recorded. All patients were followed up for 3 year progression-free survival (PFS) and overall survival (OS).

RESULTSThe average IL-17 level in patients with ENKTL was 6.48 pg/ml and the average concentration of IL-17 in control group was 0.56 pg/ml (P<0.01). The level of IL-17 in patients with B-symptoms and lymph node involvement was significantly higher than that in the control group. The differences in IL-17 level were not statistically significant among patients with different age, sex, ECOG, LDH, Ann Arbor stage, IPI, KPI, lymphocyte count and monocyte cell count. The sensitivity and specificity of IL-17 were 74.5% and 73.7% respectively, and the optimal threshold was 3.49 pg/ml and AUC was 0.799 (95% CI: 0.688-0.909) (P<0.01). The PFS and OS were longer in the patients with IL-17≤3.49 pg/ml and longer in the patients without lymph node involvement and Ann Arbor I. Multivariate analysis showed that independent predictors of PFS and OS in patients with ENKTL were plasma IL-17 levels and age (P<0.05).

CONCLUSIONENKTL patients with different clinical characteristics have different levels of IL-17, the different level of IL-17 has different effects on prognosis of patients with ENKTL.

OBJECTIVETo evaluate the efficacy and safety of one dose tranexamic acid combined with temporary drain lamping in primary unilateral total knee arthroplasty.

METHODSTotal 160 patients undergoing unilateral primary total knee arthroplasty between January 2012 and December 2013 were randomly divided into four groups(40 cases in each group):group A (the drain was clamped for 2 hours after the operation and the patients received 20 ml physiological saline), group B(the drain was clamped for 2 hours after the operation and the patients received 10 ml tranexamic acid and 10 ml physiological saline), group C (the drain was clamped for 4 hours after the operation and the patients received 20 ml physiological saline) and group D(the drain was clamped for 4 hours after the operation and the patients received 10 ml tranexamic acid and 10 ml physiological saline). The postoperative hemoglobin level, maximum hemoglobin loss, wound drainage, blood loss, the volume of blood transfusion, the number of patients inquiring blood transfusion, venous thrombo embolism rate, and ecchymosis rate were recorded and compared among the four groups.

RESULTSThere was no incision infection, severe hypoxia, and symptomatic pulmonary embolism in these groups. There were significant differences in hemoglobin content one day after operation in each group(=12.26,=0.000), in the hemoglobin content 7 days after operation in each group(=20.74,=0.000), in postoperative drainage in each group(=38.71,=0.000);in the amount of invisible red blood cell loss in each group(=83.41,=0.000), and in total red blood cell loss in each group(=102.68,=0.000). Color Doppler ultrasound examination found that the total incidence of VTE was 3%(5/160) and there were no significant differences in each group(=0.892). There were no significant differences in postoperative subcutaneous ecchymosis area>1% incidence(=0.143).

CONCLUSIONSTopical tranexami acid treatment combined with temporary clamping of drain for 4 hours could reduce postoperative blood loss, blood transfusion, and ecchymosis rate without increasing the risk of thromboembolic event after total knee arthroplasty.

Objective To investigate the mechanism of non-receptor tyrosine kinase Src regulating neuroinflammation through phosphatase and tensin homology protein(PTEN)in microglia. Methods BV2 cells were incubated with PTEN inhibitor bpv(HOpic)for 2 hours,and then added with lipopolysaccharide(LPS)to induce neuroinflammation,Western blot was performed to determine the expression of phosphorylated protein kinase B(Akt)to investigate the activity of PTEN. Enzyme-linked immunosorben assay(ELISA)was used to determine the release of tumor necrosis factor α(TNF-α)to assess neuroinflammation.After PTEN inhibitor or Src specific small interfering RNA was added,the change of neuroinflammation was evaluated to study the mechanism of Src regulating neuroinflammation. Results LPS induced significant neuroinflammation in BV2 cells,as indicated by significantly increased expression of p-Akt and release of TNF-α(P<0.001).The PTEN inhibitor signficantly increased Akt phosphorylation(P<0.05)and TNF-α release(P<0.001)in LPS-induced BV2 cells compared to simply LPS-induced cells.The Src small interfering RNA significantly decreased the release of TNF-α(P<0.001)and inhibited PTEN(P<0.001)and Akt(P<0.001)phosphorylation. Conclusion Src kinase may regulate neuroinflammtion response in BV2 cells by regulating the phosphorylation of PTEN.

Objective To investigate the effects of gender and age on the prevalence and complications of nonalcoholic fatty liver disease(NAFLD). Methods A total of 8429 NAFLD patients were selected from the Health Check-up Center and Outpatient Departments of Qilu Hospital of Shandong University(Qingdao).The questionnaire-based survey,physical examinations,biochemical tests,and liver ultrasonography were performed for all cases.Patients were divided into young group(<45 years),middle aged group(45 years≤age<60 years),and old group(≥60 years)according to age,and the clinical features and laboratory findings were analyzed. Results The proportion of male patients gradually decreased with age,while the proportion of female patients increased(P<0.01);The incidences of metabolic diseases showed significant difference among young group,middle aged group,and old group(P<0.01).Except for hyperlipidemia,the proportion of male patients with NAFLD-accompanied metabolic symdrome was significantly higher than that of female patients in all three age groups(all P<0.01). Conclusions The prevalence of NAFLD-accompanied metabolic syndrome disease is associated with age and gender.This finding is useful for the prevention and treatment of NAFLD.

BACKGROUNDMyocardial infarction (MI) is a major disease burden. Wild-type p53-induced phosphatase 1 (Wip1) has been studied extensively in the context of cancer and the regulation of different types of stem cells, but the role of Wip1 in cardiac adaptation to MI is unknown. We investigated the significance of Wip1 in a mouse model of MI.

METHODSThe study began in June 2014 and was completed in July 2016. We compared Wip1-knockout (Wip1-KO) mice and wild-type (WT) mice to determine changes in cardiac function and survival in response to MI. The heart weight/body weight (HW/BW) ratio and cardiac function were measured before MI. Mouse MI was established by ligating the left anterior descending (LAD) coronary artery under 1.5% isoflurane anesthesia. After MI, survival of the mice was observed for 4 weeks. Cardiac function was examined by echocardiography. The HW/BW ratio was analyzed, and cardiac hypertrophy was measured by wheat germ agglutinin staining. Hematoxylin and eosin (H&E) staining was used to determine the infarct size. Gene expression of interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), and interleukin-1β (IL-1β) was assessed by quantitative real-time polymerase chain reaction (qPCR), and the levels of signal transducers and activators of transcription 3 (stat3) and phosphor-stat3 (p-stat3) were also analyzed by Western blotting. Kaplan-Meier survival analysis, log-rank test, unpaired t-test, and one-way analysis of variance (ANOVA) were used for statistical analyses.

RESULTSWip1-KO mice had a marginally increased HW/BW ratio and slightly impaired cardiac function before LAD ligation. After MI, Wip1-deficient mice exhibited increased mortality (57.14% vs. 29.17%; n = 24 [WT], n = 35 [Wip1-KO], P< 0.05), increased cardiac hypertrophy (HW/BW ratio: 7 days: 7.25 ± 0.36 vs. 5.84 ± 0.18, n = 10, P< 0.01, and 4 weeks: 6.05 ± 0.17 vs. 5.87 ± 0.24, n = 10, P > 0.05; cross-sectional area: 7 days: 311.80 ± 8.29 vs. 268.90 ± 11.15, n = 6, P< 0.05, and 4 weeks: 308.80 ± 11.26 vs. 317.00 ± 13.55, n = 6, P > 0.05), and reduced cardiac function (ejection fraction: 7 days: 29.37 ± 1.38 vs. 34.72 ± 1.81, P< 0.05, and 4 weeks: 19.06 ± 2.07 vs. 26.37 ± 2.95, P< 0.05; fractional shortening: 7 days: 13.72 ± 0.71 vs. 16.50 ± 0.94, P< 0.05, and 4 weeks: 8.79 ± 1.00 vs. 12.48 ± 1.48, P< 0.05; n = 10 [WT], n = 15 [Wip1-KO]). H&E staining revealed a larger infarct size in Wip1-KO mice than in WT mice (34.79% ± 2.44% vs. 19.55% ± 1.48%, n = 6, P< 0.01). The expression of IL-6 and p-stat3 was downregulated in Wip1-KO mice (IL-6: 1.71 ± 0.27 vs. 4.46 ± 0.79, n = 6, P< 0.01; and p-stat3/stat3: 1.15 ± 0.15 vs. 1.97 ± 0.23, n = 6, P< 0.05).

CONCLUSIONThe results suggest that Wip1 could protect the heart from MI-induced ischemic injury.

Animals ; Echocardiography ; Interleukin-1beta ; metabolism ; Interleukin-6 ; metabolism ; Male ; Mice ; Mice, Knockout ; Myocardial Infarction ; genetics ; metabolism ; pathology ; Myocytes, Cardiac ; metabolism ; Protein Phosphatase 2C ; deficiency ; genetics ; metabolism ; Real-Time Polymerase Chain Reaction ; Tumor Necrosis Factor-alpha ; metabolism ; Ventricular Remodeling

OBJECTIVETo establish a method for the prenatal diagnosis of 22q11 microdeletion syndrome.

METHODSBACs-on-Beads (BoBs) and fluorescence in situ hybridization (FISH) were performed on a fetus for whom amniotic chromosomal culturing has failed and a pair of twin fetuses suspected for 22q11 deletion syndrome.

RESULTS22q11 microdeletion was detected in all 3 fetuses by prenatal BoBs as well as FISH, with only one red signal detected at the DiGeorge/VCFS N25 site and two green signals on the 22q13.3 ARSA site.

CONCLUSIONThe combination of prenatal BoBs and FISH can provide a method for the prenatal diagnosis of 22q11 microdeletion.

Adult ; Chromosome Deletion ; Chromosomes, Human, Pair 22 ; genetics ; DiGeorge Syndrome ; diagnosis ; embryology ; genetics ; Female ; Fetal Diseases ; diagnosis ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy ; Prenatal Diagnosis

OBJECTIVETo provide prenatal diagnosis for two couples who respectively carried heterozygous CD41-42 (-TCTT) and CD43 (G>T) mutations of the beta hemoglobin gene.

METHODSThe mutations were simultaneously detected with reverse dot blot (two diagnostic kits), multi-color melting curve analysis and sequencing analysis.

RESULTSThe fetus of family 1 was shown to be heterozygous for CD43 (G>T) by the three methods, while the fetus of family 2 was shown to be double heterozygous for CD41-42 (-TCTT) and CD43 (G>T) by multi-color melting curve analysis and sequencing analysis. The two diagnostic kits yielded different results by reverse dot blot, one as double heterozygous for CD41-42 (-TCTT) and CD43 (G>T), and another as homozygous for CD41-42 (-TCTT).

CONCLUSIONFor prenatal diagnosis of couples carrying mutations of beta hemoglobin gene such as CD41-42 (-TCTT) and CD43 (G>T), other methods such as Sanger sequencing should be used in order to avoid misdiagnosis.

Diagnostic Errors ; Female ; Heterozygote ; Humans ; Male ; Mutation ; Pregnancy ; Prenatal Diagnosis ; Reagent Kits, Diagnostic ; beta-Globins ; genetics ; beta-Thalassemia ; diagnosis ; genetics

A study of 426 rabbits from 3 cities in Jilin province (Changchun City and Jilin City) and Liaoning province (Shenyang City) was conducted between May and June 2015. The overall prevalence of E. bieneusi in rabbits was 0.94% (4/426), with 0% (0/116), 1.72% (3/174), and 0.74% (1/136) in Jilin, Changchun, and Shenyang City, respectively. Only 3 farms (farm 1 and farm 3 in Changchun City, farm 8 in Shenyang City) were PCR-positive for E. bieneusi. Moreover, rabbits of more than 6 months (1.72%) had the highest E. bieneusi prevalence, followed by rabbits of 4-6 months (1.26%), 2-3 months (0.58%), and less than 1 month (0%). Analysis of ITS gene of E. bieneusi suggested that all 4 E. bieneusi isolates were genotype D, and were classified as group 1a. The present results first demonstrated the existence of zoonotic E. bieneusi in domestic rabbits in China. Effective control measures should be implemented to prevent E. bieneusi infection in domestic rabbits, other animals, and humans.
Animals ; China/epidemiology ; DNA, Ribosomal Spacer/genetics ; Enterocytozoon/*genetics ; Genotype ; Microsporidiosis/epidemiology/parasitology/prevention & control/*veterinary ; Rabbits/*microbiology ; Zoonoses/microbiology/prevention & control