Objective To find the relationship between mutation of gamma 2 subunit of the gamma-aminobatyric acid type A receptor(GABRG2) and generalized epilepsy with febrile seizure plus(GEFS+).Methods Probands of 10 families with GEFS+ were selected,the GABRG2 gene were sequenced.Results We found a single nucleotide polymorphism site,and did not find the reported mutations.Conclusion GABRG2 mutation is not common in Hans of northern China.

OBJECTIVETo observe the protection effect of Ligustrazine Hydrochloride (LH) on coagulation reaction and inflammation reaction in single valve replacement patients with rheumatic heart disease undergoing cardiopulmonary bypass (CPB).

METHODSTotally 40 patients undergoing single valve replacement were recruited in the study and randomly assigned to the two groups, the treatment group and the control group, 20 in each group. In treatment group LH (3 mg/kg) was intravenously infused from the jugular vein. LH (3 mg/kg) was also added in the CPB priming. In the control group LH was replaced by equal amount of normal saline. Endothelial micro-particles (EMP) count was detected before CPB, 30 min after CPB, 1 h and 24 h after CPB finished. The coagulation reaction time (R), coagulation time (K), clotting formation velocity (alpha angle), maximum amplitude (MA), coagulation index (CI), platelet (PLT), hypersensitive C reactive protein (hs-CRP), IL-6, and IL-10 were detected before CPB, 1 h and 24 h after CPB finished.

RESULTSThere was no statistical difference in aorta arresting time, period of CPB, post-operative drainage volume, plasma transfusion volume, post-operative respirator assistant time, and hospitalization time between the two groups (P >0.05). Compared with pre-CPB in the same group, the count of EMP was much higher at 30 min after CPB and 1 h after CPB finished (P < 0.01). R and K, hs-CRP, IL-6, and IL-10 increased at 1 h and 24 h after CPB finished (P <0.01,P < 0.05). The alpha angle,.MA, CI, and PLT decreased 1 h after CPB finished (P <0.01). The a angle increased, while CI and PLT decreased 24 h after CPB finished (P <0.05). Compared with the control group in the same period, the count of EMP was lower in the treatment group 30 min after CPB and 1 h after CPB finished (P <0. 05, P <0. 01). R and K values obviously decreased in treatment group 1 hour after CPB finished (P <0. 05), while a angle, MA, CI, and PLT increased (P <0. 05, P <0. 01). hs-CRP and IL-6 decreased in the treatment group 1 h and 24 h after CPB finished (P <0.05), while IL-10 increased (P <0.05). The count of PLT increased 24 h after CPB finished in the treatment group (P <0. 05).

CONCLUSIONLH had certain protection effect on the vascular endothelium undergoing CPB, and lower excessive activation of coagulation reaction and inflammation reaction in patients undergoing CPB.

Blood Coagulation ; drug effects ; C-Reactive Protein ; metabolism ; Cardiopulmonary Bypass ; methods ; Humans ; Inflammation ; Interleukin-10 ; blood ; Interleukin-6 ; blood ; Pyrazines ; pharmacology ; therapeutic use ; Rheumatic Heart Disease ; drug therapy

Objective To evaluate the image quality of 64-multi detector computed tomography (MDCT)and the clinical accuracy in detecting coronary artery lesions.Methods One hundred and five patients were studied by MDCT.The results were compared with invasive coronary angiography(ICA). Patients were excluded for atrial fibrillation,but not for high heart rate,coronary calcification,or obesity. MDCT was analyzed with regard to image quality and presence of coronary artery lesions.Results The data evaluation of the image quality was based on a total of 1365 segments(13 coronary segments for each patient),of which 1144 segments were considered to have diagnostic image quality,but 221 segments (16.2%)could not be sufficiently evaluated because of severe calcifications(153 segments)and motion artifacts(68 segments).The median calcium score[Agatston score equivalent(ASE)]was 154(range 0—1983).87 of the 105 patients had an ASE of less than 1,000[median 105(range 0—994)],and 18 patients had an ASE greater than 1000[median 1477(range 1115—1983)].For detecting lesions with 50% or greater narrowing(without any exclusion criteria),the overall sensitivity,specificity,positive predictive value,and negative predictive value were 85.7%,97.9%,93.0%,and 95.5%,respectively. When limiting the number of patients to those with a calcium score of less than 1000 ASE,the threshold- corrected sensitivity for lesions with 50% or greater narrowing was 96.0%;specificity,98.9%;positive predictive value,95.3%;and negative predictive value,99.0%.Conclusion Our results indicate high quantitative and qualitative diagnostic accuracy of 64-slice MSCT in comparison to QCA in a broad spectrum of patients.

OBJECTIVETo further understand the clinical features of non-gastric mucosa-associated lymphoid tissue (MALT) lymphoma and investigate its suitable treatment.

METHODSA retrospective survey of 57 non-gastric MATL lymphoma patients pathologically confirmed in our hospital from 1999 to 2011.

RESULTSThe median age was 58 years (range 14-86 years). Common presenting sites of non-gastric MALT lymphoma included lungs and upper respiratory tract (17 patients, 29.8%), intestinal tracts (16 patients,28.1%), orbital and ocular adnexal (7 patients, 12.3%), and salivary glands (8 patients, 14.0%). Stage Ⅰ-Ⅱdisease presented in 35 patients (61.4%), stage Ⅲ-Ⅳ disease in 22 patients (38.6%). A total of 26 patients had nodal involvement and 7 patients multiple organ involvement. Regimens included surgery alone, chemotherapy alone, surgery followed by chemotherapy or chemoradiotherapy. The complete response (CR) rate was 66.0% and the overall response rate 85.7%. At a median follow-up of 52 months, the 5-year overall survival (OS) and the 5-year progression free survival (PFS) were 91.6% and 77.7%, respectively. The 5-year survival rate of surgery, chemotherapy, surgery+chemotherapy, surgery + chemotherapy + radiotherapy groups were 87.5%, 100.0%, 90.2% and 100.0%, respectively, without significant differences. The 5-year PFS of the four groups were 62.3%, 80.0%, 90.2% and 75.0% respectively.

CONCLUSIONNon-gastric MALT lymphoma is characterized by disseminated onset, favorable response to treatments and good outcomes. There is no statistically significant difference in the overall survival of the various treatments. But the recurrence rate of surgery alone is relatively high (22.3%).

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Follow-Up Studies ; Humans ; Lymphoma, B-Cell, Marginal Zone ; diagnosis ; pathology ; therapy ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Treatment Outcome ; Young Adult

OBJECTIVETo explore the possible correlation between the driver's occupation and male semen quality.

METHODSSemen samples were collected from 1,223 infertile men (78 drivers and 1,145 non-drivers) and 100 normal men, and their liquefaction, sperm density, sperm vitality, sperm motility and sperm shape were analysed.

RESULTSThe abnormal rates of semen quality in sterile male drivers were significantly higher than in non-drivers(P < 0.05) and in normal men(P < 0.01). The semen abnormal rates in drivers with more than 8 years' driving experience were higher than in those with less than 8 years' driving experience(P < 0.05).

CONCLUSIONDriving occupation can result in abnormal semen quality.

Adult ; Automobile Driving ; Humans ; Infertility, Male ; etiology ; Male ; Middle Aged ; Occupational Diseases ; etiology ; Semen ; cytology ; Sperm Count ; Sperm Motility

OBJECTIVE: The therapeutic effect of methylphenidate (MPH) in treating attention-deficit/hyperactivity disorder (ADHD) has been related to the alpha-2A adrenergic receptor (ADRA2A) gene -1291C/G single nucleotide polymorphism (SNP). We investigated the effect of MPH in treating Taiwanese children and adolescent with ADHD and its relation to the ADRA2A gene -1291C/G SNP. METHODS: The subjects with DSM-IV ADHD diagnosis underwent a titration period to find out the dose of MPH for maintenance treatment. After 4 weeks maintenance treatment, the effect of MPH was evaluated by the Swanson, Nolan and Pelham version IV total scores. The subjects with more than 25% score reduction were referred to responders and those with ≥50% improvement were considered as better responders. The -1291C/G variant of the ADRA2A gene was identified by DNA sequencing and what relevance it has to the MPH response was examined by binary logistic regression analysis. RESULTS: Of the 59 subjects, 44 (74.6%) were responsive to MPH treatment and the responsiveness was not shown to be associated with the ADRA2A gene -1291C/G SNP. As the responsive subjects were categorized as moderate responders and better responders and subjected to statistical analysis, the GG homozygotes showed a greater chance to have a better response to MPH treatment than CC homozygotes (p=0.02), with an odds ratio of 32.14 (95% CI=1.64–627.80). CONCLUSION: The ADRA2A gene -1291C/G SNP is associated with the efficacy of MPH for the treatment of ADHD in Taiwanese children and adolescents. The responsive subjects bearing homozygous -1291G allele are more likely to have a better response to MPH treatment.
Adolescent* ; Alleles ; Child* ; Diagnosis ; Diagnostic and Statistical Manual of Mental Disorders ; Homozygote ; Humans ; Logistic Models ; Methylphenidate* ; Odds Ratio ; Pharmacogenetics ; Polymorphism, Single Nucleotide* ; Receptors, Adrenergic, alpha-2* ; Sequence Analysis, DNA

OBJECTIVETo evaluate the effects of TIMP-2 local gene transfer on atherosclerotic plaque.

METHODSAtherosclerosis models were induced by denuding femoral artery endothelium plus high lipid diet in rabbits. TIMP-2 gene was transferred locally by balloons eluted with pcDNA3-TIMP-2. RT-PCR and Western blot were performed to verify exogenous genes transfer. MMPs activity in atherosclerotic plaque was evaluated by zymography. HE and VG staining and automatic image analysis system were used for pathological analysis of atherosclerotic femoral arteries. The lumen area of the vessel and the collagen contents in the atherosclerotic plaque were measured.

RESULTSThe expression of TIMP-2 gene in pcDNA3-TIMP-2 transferred group was significantly higher than control-vector transferred group at the end of week 2 after operation and reached the peak at the end of week 4. Comparing with the control group, the expression of TIMP-2 protein in treated group was also higher at the end of week 2, 4, and 8 after operation. Correspondingly, the MMP-2 and MMP-9 activities were lower in treated group. The thickness of fibrous cap of atherosclerotic plaque and the amount of collagen of the lesion were increased significantly in treated group compared with the control group, but there were no significant differences in vessel lumen area.

CONCLUSIONTIMP-2 gene transfer locally in atherosclerotic plaque could inhibit the activities of MMP-2 and MMP-9 in the lesion, increase the thickness of fibrous cap and the amount of collagen of the lesion, but may have no effect on the degree of the stenosis.

Animals ; Atherosclerosis ; enzymology ; pathology ; Blotting, Western ; Collagen ; analysis ; Gene Transfer, Horizontal ; Matrix Metalloproteinase Inhibitors ; RNA, Messenger ; analysis ; Rabbits ; Reverse Transcriptase Polymerase Chain Reaction ; Tissue Inhibitor of Metalloproteinase-2 ; genetics ; physiology

OBJECTIVETo investigate the distribution of sentinel lymph nodes in gastric cancer, and evaluate clinicopathologic characteristics leading its metastasis.

METHODSThe location of metastatic lymph nodes was analyzed retrospectively in 27 patients of gastric carcinoma with solitary lymph node metastases, and in 80 cases metastasis was limited to only 1 station in Japanese nodal classification. The clinicopathologic characteristics of the patients with solitary lymph node metastases and 111 cases without lymph node metastases were compared.

RESULTSTwenty-five in 27 cases with solitary lymph node metastases were limited in level I. Skip metastasis occurred in 2 cases. Sentinel lymph nodes of 16 cases in 21 patients with the tumors in the lower and middle third stomach were located in less curvature (No. 3) and in greater curvature (No. 4). Sentinel lymph nodes of 3 cases in 6 patients in the upper third stomach were located in right cardia (No. 1). Multivariate analysis showed that the frequency of sentinel lymph node metastasis of pT(3) lesion was significantly higher than that of pT(1) lesion with an odds ratio of 4.926 (P < 0.01). The frequency of sentinel lymph node metastasis in the tumor located in the upper third stomach was significantly higher than that in lower third stomach, with an odds ratio of 4.381 (P < 0.05). Early gastric cancer had lower risk for sentinel lymph node metastasis than that in Borrmann type I cancer, with an odds ratio of 0.082 (P < 0.05).

CONCLUSIONSMajority of sentinel lymph nodes are located in the regional perigastric lymph node groups close to the tumor. Skip metastasis is rare. Depth of invasion and location of tumor are correlated with sentinel lymph node metastasis. Sentinel lymph node assessment can instruct to determine extent of lymph node dissection for gastric cancer.

Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Lymph Node Excision ; Lymph Nodes ; pathology ; Lymphatic Metastasis ; Male ; Middle Aged ; Retrospective Studies ; Sentinel Lymph Node Biopsy ; Stomach Neoplasms ; pathology ; surgery

OBJECTIVETo study the prevention, diagnosis and treatment of biliary complications after liver transplantation.

METHODSOne hundred and twenty-three recipients who had received liver transplantation between April 1993 and November 2001 were retrospectively reviewed.

RESULTSBiliary complication was diagnosed by cholangiography in 11 patients. Nine patients were cured, 1 patient was improved and 1 patient died. The incidence for biliary complications was 8.9% (11/123), and the mortality was 0.8% (1/123). The incidence of biliary complications due to T tube was 4.2% (5/119). The incidence of biliary complications due to hepatic artery was 1.6% (2/123). In recipients with WIT > 3 min and CIT > 8 h, the incidence of biliary complications elevated significantly.

CONCLUSIONSThe most important reason for biliary complications was preservative and ischemic injury. While repairing donor liver, damage to the blood supply system of donor liver bile ducts should be avoided. Meticulous T tube placement may reduce the incidence of biliary complications. Early cholangiography is helpful to diagnose biliary complications.

Adolescent ; Adult ; Aged ; Biliary Tract Diseases ; diagnosis ; prevention & control ; therapy ; Child ; Child, Preschool ; Humans ; Infant ; Liver Transplantation ; adverse effects ; Middle Aged ; Postoperative Complications ; diagnosis ; prevention & control ; therapy