A in GAN gene cause the phenotype of GAN in the proband.The girl′s parents are heterozygotes of the disease without symptoms.There may be other mode of inheritance in family 2.

Epilepsy, Tonic-Clonic ; genetics ; physiopathology ; Genetic Diseases, Inborn ; genetics ; physiopathology ; Humans ; Syndrome

1-Alkyl-2-acetylglycerophosphocholine Esterase ; genetics ; Chromosome Aberrations ; Humans ; Infant ; Infant, Newborn ; Ion Channels ; physiology ; Melanocyte-Stimulating Hormones ; genetics ; Microtubule-Associated Proteins ; genetics ; Mutation ; Neurons ; physiology ; Neuropeptides ; genetics ; Spasms, Infantile ; etiology ; genetics ; Tumor Suppressor Proteins ; genetics

The retinoblastoma-protein-interacting zinc finger proteinl (RIZ1),a methyltransferase,contains the characteristic PR zinc finger domain.RIZ1 can methylate H3K9 of the histone,acted as a transcription suppression factor of cancers.Increasing numbers of human cancers are reported to hold decreased or absent RIZ1 expression,which is closely related to the progression of cancer.RIZ1 is defined as a candidate anti-oncogene.The mechanisms of the suppression involved in both oncocytogenetics and epigenetic changes.

Objective To investigate the relationship between IL-18 and apoptosis in patients with SLE by using testing the changes of IL-18 and soluble Fas/soluble Fas ligand in sera from the patients.Methods 58 patients with SLE were divided into three groups according to their SLEDAI score;sera from 58 patients,and 30 normal controls were tested for IL-18 and sFas/sFasL using ELISA assay.Results The level of IL-18 and sFas in sera from SLE patients was significantly higher than that of normal controls(P0 05).Besides,the increased level of IL-18 was correlated well with the increased level of sFas (?=0 496,P0 5).Conclusion The increased level of IL-18 may result in the elevation of serum sFas/sFasL in patients with SLE.They may play important roles in the pathogenesis of SLE.

Adolescent ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Retrospective Studies ; Spinal Cord ; pathology ; Spinal Cord Injuries ; diagnosis ; diagnostic imaging ; etiology ; pathology ; Spine ; diagnostic imaging ; Tomography, X-Ray Computed

Caveolin 3 ; genetics ; Diagnosis, Differential ; Humans ; Muscular Diseases ; diagnosis ; genetics ; therapy ; Prognosis

Objective To explore in vitro effects and the mechanism for FLAG regimen compared with IA regimen in P-glycoprotein-positive and -negative acute myeloblastic leukemia(AML) cell lines. Methods The expression of P-glycoprotein in K562 and K562/A02 cells were analyzed by flow cytometry. The effects of FLAG and IA on the proliferation of K562 and K562/A02 cells were detected by MTT assay. The Ara-CTP and Ara-C levels in those cells were measured by HPLC,the gene expression of hENT1 in K562 and K562/A02 cells was detected by real-time PCR. Results The positive rates of P- glycoprotein were (1.32±0.24)% in K562 cell and (97.66±3.77)% in K562/A02 cell, respectively. The expression of P- glycoprotein had no change after treated with FLAG or IA. The cytotoxicity to K562 of IA was better than FLAG [(84.41±9.33) % v.s (73.17±13.20)%, P<0.05], and the cytotoxicity to K562/A02 of FLAG was better than IA [(70.55±11.32)% v.s (48.46±12.81)%, P<0.01]. Ara-C and Ara-CTP accumulation and hENT1 expression in AML cells treated with FLAG were higher than that treated with IA. Conclusion P-glycoprotein-positive AML cells are more sensitive to FLAG regimen than IA regimen. The biochemical modulation of Ara-CTP and Ara-C may be the major mechanism.

Female ; Humans ; Male ; Sepsis ; complications ; Wernicke Encephalopathy ; diagnosis

BACKGROUND: Host endothelial cells are important targets of alloreactive donor cytotoxic T lymphocytes in graft-versus-host disease (GVHD). And the expression of tissue factor in vascular endothelial cells is up-regulated post-injury and activation. So tissue factor expression in vascular endothelial cells may play a pivotal role in the pathogenesis of GVHD.OBJECTIVE: To investigate the molecular mechanism of allogeneic T cell-induced tissue factor (TF) expression in vascular endothelial cells.DESIGN, TIME AND SETTING: The cytology observation was performed at immunological laboratory of ongji Medical College, Huazhong University of Science and Technology from March to October 2008.MATERIALS: Human primary umbilical vein endothelial cells (HUVECs) were purchased from Science cell laboratory (CA, USA).METHODS: Allogeneic CD4~+ and CD8~+T cells were isolated from peripheral blood mononuclear cells (PBMC) by positive selection using magnetic beads coated with anti-CD4 or anti-CD8 antibody. After thorough washing with PBS, 1×10~6 allogeneic CD4~+T cells or CD8~+T cells were added to HUVECs (ratio 10:1). The cells were grown at 37 ℃ in a humidified atmosphere containing c-jun N-terminal kinase (JNK), p38 mitogen-activated protein kinase (MAPK), extracellular signal-regulated protein kinase (ERK). HUVECs were pretreated with TF antibody 1 hour before co-culturing; the untreated HUVECs were used as controls. MAIN OUTCOME MEASURES: Allogeneic T cells-induced TF expression in vascular endothelial cells was determined by real-time PCR and flow cytometry. Western blot was used to examine allogeneic T cells-induced phosphorylation of MAPK in HUVEC.RESULTS: After co-culturing with allogeneic CD4~+T cells or CD8~+T cells for 6, 12, and 24 hours, the expression rates of TF on HUVEC membrane were obvious increased than that of the control group (P < 0.05), the expression levels of TF mRNA in HUVEC were also significantly elevated (P < 0.05). Allogeneic CD4~+T cells-induced expression rates of TF were significantly higher than allogeneic CD8~+T cells-induced expression rates at 12 and 24 hours after culture. The expression of p38MAPK and JNK was enhanced after culture with allogeneic T cells, yet the ERK expression had no changes. The p38MAPK or JNK can notably down regulated TF expression, which could block the TF expression when worked together. CONCLUSION: Allogeneic T cells induced TF expression in HUVECs via activation of p38MAPK and JNK.