Objective To make the gene mapping of one Chinese benign familial infantile convulsion (BFIC )pedigree on chromosome 19q12 13 1 Methods Five microsatellite DNA markers (D19S49, D19S250, D19S414, D19S416, D19S245) were chosen to make haplotype and linkage analysis of this BFIC family Results Among the 3 markers D19S49,D19S416,D19S245, the maximum LODs was located on D19S416 When the recombinant rate was 0 3, the maximum LOD score was 0 52; when the recombinant rate was 0, the LOD score was ∞; when the recombinant rate was 0 1, the LOD score was less than 0 The D19S414 and D19S250 could not provide information Conclusion BFIC gene of the family was not linked between D19S49 and D19S245, which suggested that there was heterogeneity in BFIC

Objective To investigate the in vitro effects of acitretin on the apoptosis and expressions of insulin-like growth factor binding protein 7 (IGFBP7) and vascular endothelial growth factor (VEGF) in HaCaT cells.Methods Cultured HaCaT cells were treated with various concentrations (10-5,10-64,10-7,10-8 mol/L) of acitretin for various durations,with those cultured in acitretin-free medium serving as the control group.Then,CCK-8 assay was performed to evaluate the proliferation of cells after 24-,48-and 72-hour treatment,flow cytometry to detect the apoptosis of HaCaT cells,and Western blot and reverse transcription-PCR to quantify the protein and mRNA expressions of IGFBP7 and VEGF in HaCaT cells,respectively,after 48-hour treatment.Statistical analysis was carried out by one-way analysis of variance and Pearson correlation analysis.Results The proliferation of HaCaT cells was inhibited by the treatment with acitretin,and the inhibitory effect increased with the elevation of concentration and prolongation of treatment duration of acitretin.A significant decrease was observed in the proliferative activity of HaCaT cells treated with acitretin of 10-8 mol/L for 48 hours,and when the concentration of acitretin was 10-5 mol/L,the proliferation of HaCaT cells was inhibited by 39.94％ ± 2.27％ and 49.77％ ± 1.87％ at 48 and 72 hours respectively,compared with the control cells.The HaCaT cells treated with acitretin of 10-5 mol/L for 48 hours showed a significant elevation in apoptosis rate (7.617％ ± 0.767％ vs.1.803％ ± 0.313％,P ＜ 0.05),IGFBP7 protein and mRNA expressions (0.939 ± 0.040 vs.0.436 ± 0.013,0.872 ± 0.079 vs.0.190 ± 0.056,both P ＜ 0.05),but a significant reduction in VEGF protein and mRNA expressions (0.213 ± 0.032 vs.0.798 ± 0.036,0.274 ± 0.041 vs.0.933 ± 0.054,both P ＜ 0.05) in comparison to the control cells.Conclusions Acitretin can induce the apoptosis of HaCaT cells,and up-regulate IGFBP7 but down-regulate VEGF expressions in HaCaT cells at protein and mRNA levels.

Objective To evaluate the impact of chemotherapy compliance on the therapeutic efficacy of induction chemotherapy plus concurrent chemoradiotherapy versus induction chemotherapy plus radiotherapy alone for patients with locally advanced nasopharyngeal carcinoma (NPC). Methods Based on intention to treat analysis (ITT) for 400 patients, 314 patients were analyzed by per protocol (PP) analysis. The patients were divided into induction chemotherapy plus concurrent chemoradiotherapy group (IC/CCRT, 127 patients) or induction chemotherapy plus radiotherapy group (IC/RT, 187 patients). The patients who completed 2 cycles of induction chemotherapy and at least 2 cycles of concurrent chemotherapy in the IC/CCRT group and the patients who completed 2 cycles of induction chemotherapy in the IC/RT group were analyzed. Radiotherapy was given by two-dimensional technique with γ-ray, X-ray and electron beams. The chemotherapy regimen was FUDR plus carboplatin for induction chemotherapy and carboplatin alone for concurrent chemotherapy. Results The follow-up rate was 96.2%. 295 patients were followed to at 3 years. Based on PP analysis, Grade 3/4 toxicity was found in 23.6% of the patients in IC/CCRT group and 13.4% in the IC/RT group (χ~2 =5,50,P=0.019). No grade 4 toxicity was found in the IC/RT group. The median follow-up time was 3.9 years, and no significant difference was found between the two groups in 3-year overall survival (78.1% : 84.6% ;χ~2 = 0. 61, P =0. 435), disease-free survival (74.3 % : 70.1% ;χ~2= 0. 12, P= 0.731), Iocoregional relapse-free survival (89.7% : 89.5% ; χ~2= 0. 10, P= 0.748), or distant metastasis-free survival (78.9%:76.5% ;χ~2=0.05,P=0.825). Conclusions With more severe toxicities, the IC/CCRT regimen does not improve the overall survival in locally advanced NPC patients compared with the IC/RT regimen.

Objective To observe the safety and effectiveness of inductive chemotheray with lobaplatin plus 5-Fu (LF regimen) and concurrent chemoradiotherapy with lobaplatin for local-regionally advanced nasopharyngeal carcinoma (NPC) patients,and investigate the appropriate lobaplatin dose for the concurrent chemoradiotherapy.Methods Newly diagnosed local-regionally advanced NPC patients signed informed consent.The inductive chemotherapy was lobaplatin 30 mg/m2 + 5-Fu 4 g/m2 civ 120 h for 2 cycles every 21 days,then concurrent lobaplatin chemoradiotherapy was conducted.The initial lobaplatin dose for concurrent chemoradiotherapy was 50 mg/m2 with at least 3 cases in every dose level.If 2 of 3 patients presented dose-limiting toxicity (DLT),5 mg/m2 dose decreased for the next level until maximal tolerant dose (MTD) reached.The tumor response was evaluated after inductive chemotherapy,at the end of the chemoradiotherapy,3 months after chemoradiotherapy and 6 months after chemoradiotherapy.Results From Dec 2011 to Apr 2012,11 patients were enrolled in this study.After 2 courses of inductive chemoradiotherapy,CR,PR and SD were observed in 1,8 and 2 patients,respectively.At the end of the chemoradiotherapy and 3 months after chemoradiotherapy,CR and PR were observed in 10 and 1 patients,respectively.Six months after the chemoradiotherapy,all patients were CR.For the patients(3 in each arm) received 50 mg/m2 or 45 mg/m2 lobapaltin concurrent chemoradiotherapy,2 patients in each arm presented DLT.For the 5 patients received 40 mg/m2 lobapaltin concurrent chemoradiotherapy,no patients presented DLT.40 mg/m2 was suggested as the MTD.Inhibition of platelet was the major DLT.Conclusion Inductive chemotherapy with LF regimen and concurrent chemoradiotherapy with lobaplatin is safe and effective for local-regionally advanced NPC patients and the MTD of lobaplatin for the concurrent chemoradiotherapy is 40 mg/m2.Further clinical trial with large sample is expected.

Objective To explore the effect of social medical treatment in improving the quality of life for patients with nasopharyngeal carcinoma.Methods 32 patients with nasopharyngeal carcinoma were mentioned with social medical treatment (including psychological treatment,family visit,family tend,social healing service,etc).The result was measured by using the SQOL-NPC.and the different stages of the results were compared.Results All the patients were tracked in 2 years.All the scores were mark down in a table.Conclusion After analyzing the results,it was found that social medical treatment played an important role in improving the quality of life for patients with nasopharyngeal carcinoma.

Objective: To explore the relationship between NLRP3 inflammasome and atrial fibrillation (AF) by examining peripheral blood level of NLRP3 inlfammasome and other inlfammatory factors in relevant patients.
Method: A total of 60 AF patients were enrolled and divided into 2 groups: Paroxysmal AF (PAF) group and Non-paroxysmal atrial fibrillation (nPAF) group, n=30 in each group;in addition, there was a Control group including 26 healthy subjects from physical examination. NLRP3 expression in peripheral blood mononuclear cells (PBMCs) was measured by lfow cytometry;blood levels of IL-1β, IL-6, CRP and NT-proBNP were detected by ELISA. The correlations among different factors were studied by liner regression analysis and the differences were compared among groups.
Result:①Compared with Control group, PAF and nPAF groups had increased PBMCs level of NLRP3 and blood levels of IL-1β, IL-6, CRP, NT-proBNP, P<0.05, while NLRP3 level was similar between PAF group and nPAF group, P>0.05.②PAF and nPAF groups showed elevated blood level of NT-proBNP than Control group, P<0.05. ③PBMCs level of NLRP3 was positively related to left atrial diameter (r=0.579, P<0.05) and negatively related to left ventricular ejection fraction (r=-0.490, P<0.05) in both AF groups.
Conclusion: ① NLRP3 inflammasome was closely related to AF, which may provide a therapeutic target for AF treatment. ② AF was closely related to inflammatory response. ③ Downstream product of NLRP3 may cause the inlfammatory response which could induce the occurrence, development and maintenance of AF in relevant patients.

Objective To seek an effective surgical procedure to treat patients with the varying degrees of breast ptosis and micromastia.Methods Patients were classified into Ⅰ-Ⅳ degrees based on different breast ptosis,and treated by different methods.Degree Ⅰ was treated with implanting prosthesis to the post-pectoralis major space; degree Ⅱ patients were repaired with avulsion of deeper mammary gland and pectoralis major and hanging fixed breast tissue,based on the degree Ⅰ procedure; degree Ⅲ was fixed with breast tissue flap,excised redundant epidermis by the method of double-rings and the complex of nipple and areola was shifted,based on the degree Ⅱ procedure; degree Ⅳ was repaired with implanting prosthesis and the method of lines to hanging fixed breast.Results In 116 cases of this study,there were no hematoma,infection and nipple and areola necrosis by the combined strategies.The follow-up period after the surgery was 6-31 months (mean 13.3 months).All cases had voluptuous and upright breasts,rectified breast ptosis,with the normal sense of nipple and areola.Conclusions For breast ptosis and hypoplasia,the combined strategies have better clinical therapeutic effects.

Objective To evaluate the effect of pregnancy and delivery after renal transplantation (RT)on recipients,graft and offspring.Methods Clinical data of 6 pregnancies in 5 recipients were retrospectively studied and literature was reviewed.Results Among them,6 pregnancies and 4 deliveries occurred in 5 female RT recipients.The mean age at pregnancy was 31.1 years,with a mean interval between RT and pregnancy being 3.6 years.Preeclampsia developed in two pregnancies and hyperlipemia in one pregnancy.One RT recipient who discontinued immunosuppressant following pregnancy on her own exhibited subsequent renal failure.She underwent a second RT and delivered a healthy baby two years following the second RT.One RT recipient decreased the immunosuppressant dose to half after the pregnancy on her own and developed renal failure thereafter.Four patients underwent a Cesarean section at 38 th,35 th,35 th,and 38 th week,respectively.The mean birth weight was 3262.5 g with all Apgar scores of 10.Conclusion Our data coupled with prior reports suggest that for the recipients with normal renal function,successful pregnancy is achievable if immunosuppressant was taken correctly,but the pregnancy is at high risk,and careful monitoring is needed.

Purpose: This study was aimed to investigate long-term survivals and toxicities of early-stage nasopharyngeal carcinoma (NPC) in endemic area, evaluating the role of chemotherapy in stage II patients. Materials and Methods: Totally 187 patients with newly diagnosed NPC and restaged American Joint Committee on Cancer/ International Union Against Cancer 8th T1-2N0-1M0 were retrospectively recruited. All received intensity-modulated radiotherapy (IMRT)±chemotherapy (CT) from 2001 to 2010. Results: With 15.7-year median follow-up, 10-year locoregional recurrence-free survival, distant metastasis-free survival (DMFS), disease-specific survival (DSS), and overall survival (OS) were 93.3%, 93.5%, 92.9% and 88.2%, respectively. Multivariable analyses showed cervical lymph nodes positive and pre-treatment prognostic nutritional index ≥ 52.0 could independently predict DMFS (p=0.036 and p=0.011), DSS (p=0.014 and p=0.026), and OS (p=0.002 and p < 0.001); Charlson comorbidity index < 3 points could predict DSS (p=0.011); age > 45 years (p=0.002) and pre-treatment lactate dehydrogenase ≥ 240 U/L (p < 0.001) predicted OS. No grade 4 late toxicity happened; grade 3 late toxicities included subcutaneous fibrosis (4.3%), deafness or otitis (4.8%), skin dystrophy (2.1%), and xerostomia (1.1%). No differences on survivals were shown between IMRT+CT vs. IMRT alone in stage II patients, even in T2N1M0 (p > 0.05). Unsurprising, patients in IMRT+CT had more acute gastrointestinal reaction, myelosuppression, mucositis, late ear toxicity, and cranial nerve injury (all p < 0.05) than IMRT alone group. Conclusion Superior tumor control and satisfying long-term outcomes could be achieved with IMRT in early-stage NPC with mild late toxicities. As CT would bring more toxicities, it should be carefully performed to stage II patients.