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.

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

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

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

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

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.

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

Objective To explore the expression of protease-aetivated receptor (PAR)-1, 2 in a routine model of acute graft-versus-host disease (aGVHD). Methods A routine model of aGVHD after aUogeneic hematopoietic stem cell transplantation (allo-HSCT) was established, and the syngeneic HSCT mice were used as the controls. Quantitative real-time PCR, Western blot and immunohistoehemistry were done to detect the gene and protein expression of PAR-1, 2 in multiple organs of allo-HSCT mice and the controls. Results Allo-HSCT mice showed classical symptoms and histological changes of aGVHD. PAR-1 mRNA expression was significantly increased in the skin,liver, small intestine of allo-HSCT mice (skin: 0. 039 ± 0. 013 vs. controls: 0. 008 ± 0. 002,P<0. 01 liver: 0. 165 ± 0. 084, vs. controls: 0. 017 ± 0. 006, P<0. 01 ; small intestine: 0. 215 ± 0. 109 vs.controls: 0. 016±0. 009, P<0. 01), but not in the stomach, lung and kidney of allo-HSCT mice (P >0. 05). PAR-2 mRNA expression in the liver and small intestine of allo-HSCT mice was significantly elevated (liver: 0. 010 ± 0. 003 vs. controls: 0. 003 ± 0. 002, P<0. 01 ; small intestine:0. 006 ± 0. 002 vs. controls: 0. 003± 0. 002,P<0. 05), but not in the other organs (P>0. 05). The protein expression of PAR-1, 2 was in accordance with the mRNA expression. Immunohistochemistry revealed the PAR-1, 2 expression was increased in the epithelial eeUs and vascular endothelial cells of target organs of aGVHD. Conclusion Inereased expression of PAR-1, 2 in the target organs of aGVHD suggests PAR-1, 2 may contribute to the pathogenesis of aGVHD after allo-HSCT.