Association of serotonin transporter linked polymorphic region 44 bp variable number of tandem repeat polymorphism with Tourette syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the association between the serotonin transporter linked polymorphic region (5-HTTLPR) 44 bp variable number of tandem repeat (VNTR) polymorphism and Tourette syndrome (TS) in ethnic Han Chinese trios.</p><p><b>METHODS</b>A total of 252 TS trios (patients and their parents) were recruited. Genetic contribution of the 5-HTTLPR 44 bp VNTR polymorphism was evaluated by genotyping, haplotype relative risk (HRR) analysis and transmission disequilibrium test (TDT) statistics. To enhance the efficiency of the test, haplotype-based HRR (HHRR) was also performed.</p><p><b>RESULTS</b>The TDT, HRR and HHRR analyses have revealed a significant association of the 5-HTTLPR 44 bp VNTR polymorphism with TS, and provided a strong evidence for an over-transmission of L allele from parents to the affected children (TDT: χ² = 6.680, df= 1, P= 0.012; HRR: χ² = 9.345, P= 0.002, OR= 1.739, 95% CI for 1.218-2.483). For 204 male and 48 female TS trios, TDT and HRR were analyzed separately. The results showed a significant association between 5-HTTLPR and male TS (for males. TDT: χ² = 4.643, df= 1, P= 0.038; for females, TDT: χ² = 2.189, df= 1, P= 0.188).</p><p><b>CONCLUSION</b>5-HTTLPR may be the susceptibility gene for male TS patients among the Chinese Han population. However, the results need to be replicated in datasets collected from different populations.</p>

Allogeneic peripheral blood stem cell transplantation combined with bone marrow transplantation for malignant hematologic diseases / 白血病·淋巴瘤

Objective To observe curative effect and clinical outcome in 30 recipients undergoing allogcneic peripheral blood stem cell transplantation (PBSCT) combined with bone marrow transplantation (BMT). Methods 30 patients with a median age of 32.6 years underwent allo-HSCT, of which 11 patients with AML, 14 patients with ALL, and 5 patients with CML They all have a HLA-identical sibling. PBSCswere mobilized with G-CSF. Three hundreds milliliter bone marrow blood was transplanted to the patients on the day that the PBSC was transplanted. Amended Bu/Cy was used as the conditioning regimen. MTXcombined with CsA and MMF was used as GVHD prophylaxis. Results A median number of mononuclear cells of (5.13±2.6)x10~8/kg recipient's weight was collccted from peripheral blood, and (1.3±0.6)x10~8/kgrecipient' s weight from bone marrow blood. Engraftment of neutrophils and platelets was achieved at a median of (12.1±3.25) days and (14±5.33) clays respectively. Ⅰ - Ⅱ acute GVHD occurred in 40.0 % cases,Ⅲ - Ⅳ acute GVHD occurred in 3.3 % cases, and chronic GVHD developed in 43.3 % cases. Severe cGVHD developed in 3.3% cases. The 2 years disease free survival rate (DFS) by the day of transplantation was 72.0 %. Conclusion PBSCT combined with BMT was effective to cure leukemia. The results also suggested that PBSC recipients had an lower incidence of aGVHD and cGVHD as compared with previous reports.

A clinical study of massage combined with hyperbaric oxygen in rehabilitation of moderate or severe hypoxic ischemic encephalophy / 重庆医科大学学报

Objective: To observe the clinical effect of massage combined with Hyperbaric Oxygen(HBO) on improving the intelligence of infants with moderate or severe Hypoxic Ischemic Encephalophy(HIE).Methods: 122 newborns aged less than 2 days were randomly divided into four groups.33 cases in the control group were treated with cerebrolysin,29 cases in the second group were treated with cerebrolysin and massage,32 cases in the third group were treated with cerebrolysin and HBO,and 28 cases in the fourth group with cerebrolysin,HBO and massage.The mental development index(MDI) and the psychomotor developmental index(PDI) were observed when they were 3?6?9?12 and 18 months old.Results: The MDI and PDI of infants with moderate HIE was significantly higher in the fourth group than those in the control group(P0.05),and no higher in the control group as well.The MDI and PDI were in mental retardation after 18 months' treatment,mostly accompanied by cerebral palsy which were higher in the fourth group than those in the control group,and grew higher with time,and can be in borderline after 18 months' treatment.There was statistically significant difference between them(P