Objective To investigate the relationship between the genotype and phenotype of erythropoietic protoporphyria (EPP) in a family.Methods Venous blood samples were collected from two patients with EPP as well as their asymptomatic parents and grandmother.PCR was performed to assess the mutation of FECH gene,and real-time quantitative PCR to detect the expression of FECH gene.Results A mutation IVS3 + 1G ＞ A was detected in the two patients and their mother.Haplotype analysis showed that both patients with photosensitivity carried the wild-type low-expressed allele IVS3-48C,while their mother,the asymptomatic carrier,harbored the normal allele IVS3-48T.As real-time PCR showed,the expression intensity of FECH gene gradually increased from patients,asymptomatic patients to normal individuals.Conclusion The difference in expression intensity of FECH gene may contribute to the variability in clinical presentation of EPP.

Objective To investigate the changes of brain volumes in neuromyelitis optica (NMO)patients using voxel-based morphometry (VBM) method, and preliminarily explore the pattern of cerebral anatomical impairment. Methods Twenty-three clinically defined NMO patients and 15 gender and age matched healthy volunteers underwent 3-dimensional (3D) fast spoiled gradient echo (FSPGR) sequence scanning on 3.0 Tesla MR systen. Raw data was processed and analyzed using statistical parametric mapping (SPM) 5. Whole brain volumes included grey matter volume (GMV), white matter volume (WMV), total intracranial volume (TIV), grey matter fraction (GMF), white matter fraction (WMF),brain tissue fraction (BTF) and regional brain volumes between the two groups were compared by independent samples t-test and an Pearson were performed to compare the regional brain volumes and the ages. Results GMV of NMO group[(610. 2 ± 55.0) ml] was significantly decreased comparing to healthy control group[(657. 2 ± 36. 3) ml] (t = - 2. 915, P ＜ 0. 05). The age of NMO patients [(40 ± 9) years old] showed negative correlation with GMF [(42. 5 ± 2. 6) %] (r = - 0. 673, P ＜ 0. 05). Regional brain volume analysis showed decreased GMV in left insula and bilateral posterior cingutates in NMO patients,while decreased WMV was found in left frontal and left parietal white matter. Conclusion VBM could detect brain volume changes sensitively. Total grey matter volume in NMO patients was decreased comparing to HC group. Regional grey matter atrophy in NMO patients occurred in left insular and bilateral posterior cingutates, regional white matter atrophy occurred in left frontal and left parietal lobe.

Objective To explore the factors relating to serum lutein level in elderly patients with early age-related macular degeneration (AMD).Methods 102 early AMD patients diagnosed by international diagnostic criteria were selected.The level of serum lutein was measured by HPLC,and dietary intake was estimated by food-frequency questionnaire (FFQ).The factors relating to serum lutein level were analyzed by Pearson correlation and multiple regression analysis models.Results Serum lutein level was higher in female AMD patients than in male AMD patients [(0.33±0.31) μmol/L vs.(0.21 ±0.19) μmol/L,t=2.21,P＜0.05].Serum lutein level was positively correlated with dietary lutein (r=0.49,P＜ 0.001),but not correlated with age,BMI,and other nutrient intake after adjustment for caloric intake.Dietary lutein was mainly from corn,spinach,leeks,eggs,chrysanthemum,pumpkin,broccoli,lettuce,asparagus and peas.Intakes of spinach,pumpkin,asparagus were significantly associated with serum lutein level.Conclusions Elderly patients with AMD should increase the intakes of lutein-rich vegetables to increase the serum lutein level.

Background Benign lymphoepithelial lesion of lacrimal gland is not a common orbital disease in clinic,which mainly presented as symmetrical and painless enlargement of bilateral lacrimal glands.However,the etiology and pathogenesis of this disease is still unclear now.Objective This study was to screen the differentially expressed genes between benign lymphoid epithelial lesion of lacrimal gland and orbital cavernous hemangioma and explore the pathogenesis of benign lymphoepithelial lesion of lacrimal gland at the molecular level.Methods Nine patients diagnosed as benign lymphoepithelial lesion of lacrimal gland in Beijing Tongren Hospital,Capital Medical University were enrolled from September 2010 to April 2013,and nine patients with orbital cavernous hemangioma served as control group.The intraorbital tissue was collected during surgery.Whole-genome gene expression microarray was used to detect the expressed genes,and limma algorithm was used to analyze the differentially expressed genes between the benign lymphoepithelial lesion of lacrimal gland and the orbital cavernous hemangioma.Real-time PCR was used to verify differentially expressed genes,Fisher method and gene ontology (GO) functional analysis were performed to realize function and signaling pathways analysis.This study complied with Helsinki Declaration and the protocol was aproved by Institutional Review Board of Beijing Tongren Hospital,and informed consent was obtained.Results Total 5 260 differentially expressed genes were screened between benign lymphoepithelial lesion of lacrimal gland and orbital cavernous hemangioma.The Fisher function and signaling pathways analysis showed that 109 GO terms were significantly upregulated and 101 GO terms were significantly downregulated,and 32 relevant signaling pathways were significantly upregulated and 25 signaling pathways were significantly downregulated in the benign lymphoepithelial lesion of lacrimal gland.GO analysis showed that the expression enrichment of complement receptormediated signaling pathway was high,then following the upregulation of T cell and B cell signaling pathways and downregulation of mitogen-activated protein kinase (MAPK) and transforming growth factor-β (TGF-β) signaling pathways.Real-time PCR results showed that the expressions of TIPRL,TLR7 and TLR10 genes were significantly higher in the benign lymphoepithelial lesion of lacrimal gland than that in the orbital cavernous hemangioma,with significant differences between the two diseases (Z =-2.03,-2.32,-2.32;all at P＜0.05),which was consistent with the microarray data.Conclusions Gene expression profiles are significantly different between benign lymphoepithelial lesion of lacrimal gland and orbital cavernous hemangioma.Those differentially expressed genes play roles in the upregulation of T cell and B cell signaling pathways,downregulation of MAPK and TGF-β signaling pathways and the change of complement system.It is implied that a comprehensive effect of various genes and pathways participates in the pathogenesis of benign lymphoepithelial lesion of lacrimal gland.

Brain Neoplasms ; pathology ; Glioma ; pathology ; Humans ; Infant, Newborn ; Male

Female ; Humans ; Infant, Newborn ; Kidney Neoplasms ; Twins, Monozygotic ; Wilms Tumor

Bacterial Infections ; drug therapy ; Child ; Drug Resistance, Bacterial ; Humans ; Microbial Sensitivity Tests ; beta-Lactamases ; biosynthesis

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Objective To explore the diagnosis and treatment of hypopara thyroidism-deafness-renal dysplasia(HDR) syndrome in children.Methods According to the symptoms,signs,laboratory examination and the previous published papers of other authors,the disease of the child was diagnosed and treated,and some related literatures were reviewed.Results The 12-years-old boy presented with tetany and deafness and Chvostek's and Trousseau's signs were positive.The initial laboratory studies showed that the serum concentration of calcium was lower,parathormone was in the low limit of normal range and alkalin phosphatase was normal.An audiography revealed the pattern of sensorineural deafness in all frequencies.Abdominal CT revealed that his right kidney was not observed and creatinine clearance rate was low.After treated with calcium carbonate and vitamin D,the symptoms and the signs were improved.Conclusion HDR syndrome is a rare disorder and less recognized in children,and therefore more attention should be paid to avoid missing diagnosis.

Objective To construct an RNA interference vector to down-regulate X-linked inhibitor of apoptosis(XIAP)gene and study the RNA interference effect on the cell cycle and growth of ovarian cancer.Methods Oligonucleotides of 64 base pairs for hairpin RNA targeting XIAP were designed, chemically synthesized,annealed,and cloned into the pSUPER vector.After identification by restriction digestion,the correct vectors were transiently transfected into SKOV3 cells,a human ovarian cancer cell line.The XIAP mRNA was detected by RT-PCR.The proteins were detected by western blot and indirect immunofluorescence staining.Flow cytometry(FCM)analysis and methyl thiazolyl tetrazolium(MTT)assay method were applied to measure cell cycle,cell growth and sensitiveness to cisplatin.Results SKOV3 cells had a high level expression of XIAP.The vector of RNA interference,which can interfere with XIAP gene was successfully constructed.After transient transfection,the expression of XIAP protein was significantly decreased in SKOV3 cells and the value of relative density was 3584?124,2138?65,1973?80 and 110 ?12,respectively(P=0.0334).At the same time,the expression of XIAP mRNA was decreased accordingly and the value of relative density was 6674?274,4532?107,2322?57 and 1864?78, respectively(P=0.0127).The FCM results showed that,the vector could increase the number of cells in G_1 phase compared with parent cells and compared with the cells transfected with pSUPER(P