OBJECTIVETo study the association of TGF-alpha gene polymorphism and non-syndromic cleft lip with cleft palate in Shandong province.

METHODSPolymerase chain reaction combined with restrict enzyme digestion was used to detect the target gene variation in 98 patients with non-syndromic cleft lip with cleft palate and 101 healthy controls.

RESULTSThe C2 allele frequency in patients with non-syndromic cleft lip with cleft palate was significantly higher than that in healthy controls. The genotype frequency in patients with positive family history was significantly higher than that without positive family history.

CONCLUSIONTGF-alpha gene polymorphism is closely associated with non-syndromic cleft lip with cleft palate in Shandong, especially in patients with positive family history.

Cleft Lip ; Cleft Palate ; Gene Frequency ; Genotype ; Humans ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Transforming Growth Factor alpha

OBJECTIVETo investigate whether S. aureus could activate NF-κB signaling pathway in human osteoblasts.

METHODSImmunoblot and electrophoretic mobility shift assay were used to detect the degradation of I-κBα and activation of NF-κB in human osteoblasts following infection with S.aureus, respectively, and there were investigated the activated state of NF-κB signaling pathway in human osteoblasts. In addition, enzyme-linked immunosorbent assay was used to measure the secretion of IL-6 in culture supernatants, which was represented as one of important cytokines in osteomyelitis, and an inhibitor of NF-κB, SN50, which was added to human osteoblasts culture prior to 1 hour at 50 µmol/L before the infection of S.aureus, was used to determine whether S.aureus-activated NF-κB signaling pathway regulates IL-6 secretion of human osteoblasts.

RESULTSS.aureus could induce the degradation of I-κBα (I-κBα(15 min)/I-κBα(0 min) = 0.409 ± 0.245 and I-κBα(30 min)/I-κBα(0 min) = 0.061 ± 0.010) and activation of NF-κB in human osteoblasts in a time and dose-dependent manner following infection. In addition, the secretion of IL-6 in the supernatants of human osteoblasts ((2.17 ± 0.11) µg/L) was suppressed by 50 µmol/L SN50 compared to without the addition of SN50 ((3.58 ± 0.31) µg/L) (F = 174.25, P < 0.05).

CONCLUSIONSS.aureus could activate NF-κB signaling pathway in human osteoblasts, which could regulate cytokines secretions of human osteoblasts.

Cells, Cultured ; Humans ; Interleukin-6 ; secretion ; NF-kappa B ; metabolism ; Osteoblasts ; metabolism ; Signal Transduction ; Staphylococcal Infections ; metabolism

OBJECTIVETo evaluate the clinical effect of one stage anterior and posterior fusion and posterior fixation for the treatment of thoracic and lumbar spinal tuberculosis.

METHODSFrom March 2003 to December 2006, one stage anterior and posterior fusion and posterior fixation were performed to treat 23 patients who suffered thoracic and lumbar spinal tuberculosis. There were 15 males and 8 females with an average of 37.6 years (17-61 years). 4 cases' tuberculose focus were in thoracic vertebra, 8 cases in thoracolumbar, 11 cases in lumbar.

RESULTSThe average follow up period was 28.7 months (9-40 months). The symptoms of all patients had primarily relieved and the patients can ambulate at 2-3 weeks after treatment. At the 6th after operation, the X-ray showed interbody fusion. Frankel grading of 16 patients with incomplete paraplegia were improved averagely 1.62 grades. The major complications including 2 cases of temporary sinus formation, 1 case of fixtor breaking and 1 case of recurring (owing to an inadequate postoperative chemotherapy).

CONCLUSIONOne stage anterior and posterior fusion and posterior fixation can effectually resect focus, rebuild stability of spine, promote interbody fusion and recovery of incomplete paraplegia in treating thoracic and lumbar spinal tuberculosis.

Adolescent ; Adult ; Female ; Fracture Fixation, Internal ; Humans ; Lumbar Vertebrae ; surgery ; Male ; Middle Aged ; Postoperative Complications ; Spinal Fusion ; Thoracic Vertebrae ; surgery ; Treatment Outcome ; Tuberculosis, Spinal ; surgery ; Young Adult

OBJECTIVETo study the association of transforming growth factor-alpha (TGF-alpha gene polymorphism and environment factors with nonsyndromic cleft lip with or without cleft palate (NSCLP) in Han nationality.

METHODSData related to infection, drug intake and folic acid supplement during pregnancy were gained through investigation of mothers. Polymerase chain reaction combined with restrict enzyme digestion was used to detect the target gene variation in 199 patients with NSCL/P and 203 healthy controls. Analysis was carried on the genotype and infection,drug intake and folic acid supplement.

RESULTSThe C2 allele frequency in patients with NSCL/P was significantly higher than that in healthy controls. There was a significant increase of patients with NSCL/P in pregnant women exposed to infection, drug intake and folic acid deficiency. There was an interaction between C1C2 genetype and infection, drug intake and folic acid supplement.

CONCLUSIONTGF-alpha gene polymorphism is associated with NSCL/P. Infection, drug intake and folic acid supplement during pregnancy were associated with the occurrence of NSCL/P. Individuals containing C2 allele were more sensitive to infection, drug intake and folic acid deficiency.

Alleles ; Cleft Lip ; Cleft Palate ; Ethnic Groups ; Female ; Gene Frequency ; Genotype ; Humans ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Pregnancy ; Transforming Growth Factors

OBJECTIVETo investigate the regulatory effect of potassium channel blocker (tetraethylammonium [TEA], aminopyridine [4-AP], glibenclamide [Glib]) on the proliferation of SD rat prostatic epithelial cells in vitro.

METHODSThe primary culture was prepared by collagenase dissociation of minced prostatic tissues. Cells were cultured in serum-free prostate epithelial cell growth media and identified by immunocytochemical studies. TEA and 4-AP at the concentration of 1, 5 and 10 mmol/L and Glib at the concentration of 10, 50 and 100 mol/L were added, and after 24, 48 and 72 hours of culturing, a cell column diagram was drawn and the cell number counted. The post-passage cell growth was observed by MTT assay and Hoechst33258 nucleus staining.

RESULTSThe cultured cells showed the typical morphological features of epithelia, with positive stain. MTT assay and Hoechst33258 staining showed that TEA, 4-AP and Glib at the increasing concentration effected different degrees of proliferation of prostatic epithelial cells after 24, 48 and 72 h (P < 0.01).

CONCLUSIONThe potassium channel blocker is a direct physiological regulator of the proliferation of SD rat prostatic epithelial cells.

Animals ; Cell Proliferation ; drug effects ; Cells, Cultured ; Epithelial Cells ; drug effects ; Male ; Potassium Channel Blockers ; pharmacology ; Prostate ; cytology ; drug effects ; Rats ; Rats, Sprague-Dawley

OBJECTIVESWe identified the long QT syndrome (LQTS) patients, and detected the potential risk of LQTS in family members by using genetic testing and electrophysiological analysis, which helped provide clinical evaluation and appropriate treatment.

METHODSDetailed clinical characteristics and familiar history were obtained from the whole family members of an idiopathic pediatric LQTS patient. Two hundred healthy subjects with the same ethnic background were recruited as controls. The entire coding sequences of three candidate genes including KCNQ1, KCNH2 and SCN5A were screened for mutations in the proband. The function of the mutation was then explored by whole-cell patch clamp techniques, and the genetic testing and risk assessment of the family members were performed.

RESULTSThe proband was clinically preliminary diagnosed as LQTS by 12-lead electrocardiogram. On the third day of metoprolol intake (25 mg, bid), she died suddenly at lunch. One heterozygous missense mutation (SCN5A-V411M) was identified in this proband, but the mutation was absent in 200 healthy subjects. The electrophysiological analysis indicated that SCN5A-V411M significantly increased the peak current density ((230.8 ± 27.6)pA/pF vs. (101.2 ± 10.9)pA/pF, n=10, P<0.01) and the late sodium current ((156.6 ± 13.6)pA/pF vs. (95.9 ± 7.9)pA/pF, n=12, P<0.01) of sodium channel compared to wide type. The enhanced sodium channel activation with a negative shift in the peak I-V relationship was significantly higher by -50 mV than wide type (85.0%± 7.4% vs. 41.5% ± 2.6%, P<0.01), while the steady-state inactivation curves remained unchanged. Additionally, mother and grandmother of the proband were the silent mutation carriers with no symptoms, who needed the appropriate clinical assessment and follow-up. The proband's twin sister and aunt died of sudden infant death syndrome.

CONCLUSIONSWe firstly reported a heterozygote missense mutation (SCN5A-V411M) in this Chinese family. V411M induced "gain of function" of sodium channel and formed the basis of type-3 LQTS. Genetic testing could help to increase the diagnostic accuracy, and facilitate clinical assessment and appropriate therapy to prevent sudden cardiac death of individuals with SCN5A-V411M mutation.

Cardiac Conduction System Disease ; Death, Sudden, Cardiac ; Genetic Testing ; Humans ; Incidence ; Long QT Syndrome ; Mutation ; Patch-Clamp Techniques

OBJECTIVERecently, a new traditional Chinese medicine differentiation theory "Syndrome Element (SE)" has been raised. In this study, the main syndrome element types and their correlations with the results of coronary angiography (CAG) in patients with coronary heart disease (CHD) were investigated.

METHODSEpidemiology cross-sectional study method was employed and 324 patients with CHD were enrolled, and their syndrome element types as well as the CAG results were analyzed. The correlations among syndrome element types, Gensini score, and the number of abnormal branches were also analyzed based on the distribution characteristics of syndrome element and coronary angiography results in the 324 cases.

RESULTSAccording to their occurrence frequency in 324 CHD patients, the top eight major heart syndrome elements were Xin () blood stasis (85.8%), Xin qi deficiency (79.6%), Xin heat blockage (41.1%), Xin phlegm with turbid fluid (38.0%), Xin qi stagnation (24.7%), Xin yang deficiency (18.9%), Xin yin deficiency (17.5%) and Xin cold coagulation (4.4%), respectively, which suggested that Xin blood stasis and Xin qi deficiency were the two most common syndrome elements. Also, as coronary artery Gensini score increased, the changing trend of the syndrome element was "Xin yang deficiency with blood stasis" to "Xin phlegm obstruction with heat blockage" to "Xin yin deficiency with blood stasis" to "Xin qi deficiency with blood stasis" to "Xin cold coagulation with phlegm and turbid fluid, "Xin cold coagulation with blood stasis" to "Xin deficiency of qi, yin and yang". As the number of abnormal branches increased, the syndrome element changing trend was "simultaneous occurrence of cold and heat syndrome" to "Xin qi and yang deficiency with blood stasis" to "Xin retention of phlegm with turbid fluid" to "Xin cold coagulation in the heart meridian", "Xin deficiency of both qi and yin". The result of this study shows that Xin qi deficiency and Xin blood stasis were the major syndrome elements in patients with CHD.

CONCLUSIONAs the severity and extent of coronary artery lesion increased, there were some apparent correlations among syndrome elements, Gensini score and number of abnormal coronary artery branches.

Coronary Angiography ; Coronary Disease ; diagnostic imaging ; physiopathology ; Cross-Sectional Studies ; Female ; Humans ; Male ; Medicine, Chinese Traditional ; Middle Aged ; Qi ; Yin-Yang

OBJECTIVETo analyze the relation between recurrent miscarriage and routine semen parameters.

METHODSWe compared the semen parameters of normal healthy men with those of the spouses of recurrent miscarriage women through 1: 1 age-matched case-control study.

RESULTSCompared with the healthy controls, the men of the case group showed a significantly lower mean semen volume ([1.95 +/- 1.11] ml vs [2.74 +/- 1.43] ml), sperm concentration ([48.68 +/- 20.07] x 10(6)/ml vs [59.26 +/- 25.35] x 10(6)/ml), percentage of grade b sperm ([12.07 +/- 3.34] % vs [16.18 +/- 6.74] %), fruit-sugar content ([1.73 +/- 0.64] g/L vs [2.21 +/- 0.75] g/L), acrosomal enzyme activity ([84.34 +/- 26.69] U/mg prot vs [94.20 +/- 26.35] U/mg prot), alpha-glucuronidase (alpha-GLU) content ([36.28 +/- 15.98] U/ml vs [44.45 +/- 12. 54] U/ml), and acid phosphatase (ACP) content ([68.55 +/- 35.45] U/ml vs [84.78 +/- 51. 10] U/ml) (P < 0.05), but remarkably higher percentages of head teratospermia ([47.36 +/- 4.59] % vs [46.50 +/- 6.32] %) and tail teratospermia ([7.56 +/- 2.27] % vs [7.28 +/- 3.10] %), and elastase content ([885.64 +/- 1 272.30] ng/ml vs [661.08 +/- 764.64] ng/ml) (P < 0.05). Based on the results of discriminant analysis, the semen volume, percentages of grade b sperm and combined teratospermia, and contents of fruit-sugar, alpha-GLU and ACP could be used to evaluate the semen and sperm quality of the spouses of recurrent miscarriage women.

CONCLUSIONRoutine semen and sperm tests might help evaluate the seminal factors of recurrent miscarriage, but they lack specificity and need comprehensive analysis. Poorer semen quality is associated with higher incidence of recurrent miscarriage.

Abortion, Habitual ; etiology ; Adult ; Case-Control Studies ; Female ; Humans ; Male ; Pregnancy ; Semen ; Sperm Count ; Sperm Motility ; Spermatozoa

OBJECTIVETo study skin sensitization as well as liver and kidney impairment in guinea pigs treated with trichloroethylene (TCE).

METHODSGuinea pig maximization test (GPMT) was applied in this study, guinea pigs were divided into 3 groups, namely negative control, positive control and TCE treatment. Animals of 3 groups were administrated with olive oil, 2, 4-dinitrochlorobenzene (DNCB), and TCE, respectively, by intradermal injection. The animal skin was observed and blood was collected after various treatment, the liver function tests were conducted, including detection of activities of ALT, AST, LDH and levels of creatinine, uric acid, and urea with automatic biochemical analyzer.

RESULTSObvious skin impairment was observed in the groups of positive control and TCE treatment, the skin impairment included erythema and edema, the sensitization rate was 100% in positive control and 83.3% in TCE treatment group. Additionally, the activities of ALT, AST and LDH increased significantly in the groups of positive control and TCE treatment when compared with the negative control.

CONCLUSIONSTrichloroethylene is one of the strong hypersensitizing substances, it could induce skin allergic reaction and liver impairment in guinea pigs.

Alanine Transaminase ; blood ; Animals ; Aspartate Aminotransferases ; blood ; Female ; Guinea Pigs ; Kidney ; drug effects ; Liver ; drug effects ; Skin ; drug effects ; Trichloroethylene ; toxicity

OBJECTIVETo explore the effect of T(3) on the expression of transferrin receptor (TfR) and ferritin (Fn) in K562 cells and its possible mechanism.

METHODSFlow cytometry was used for the detection of TfR expression, radioimmunoassay for Fn expression, RNA/protein band shift assay for the binding activity of iron regulatory protein (IRP) and iron responsive elements (IRE), and RT-PCR for TfR and Fn mRNA levels.

RESULTSDifferent concentration of T(3) significantly increased Fn expression of K562 cells, especially at 100 nmol/L and 200 nmol/L (p < 0.05). However, T(3) had no effect on TfR expression. T(3) decreased the binding activity between IRP and IRE, particularly at concentration of 50 nmol/L. Different concentration of T(3) increased Fn-H mRNA level at different time point while it had no effect on TfR mRNA level.

CONCLUSIONT(3) increased Fn expression of K562 cells through the possible mechanisms of either the post-transcriptional regulation or transcriptional modulation.

Ferritins ; biosynthesis ; drug effects ; genetics ; Flow Cytometry ; Gene Expression Regulation, Leukemic ; drug effects ; Humans ; K562 Cells ; RNA, Messenger ; genetics ; Radioimmunoassay ; Receptors, Transferrin ; biosynthesis ; drug effects ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Triiodothyronine ; pharmacology