Clinical Study on Heat Shock Protein 70 in Skin Tissue of Patients with Pemphigus by Immunohistochemistry / 现代检验医学杂志

Objective This study was performed to investigate the levels of HSP70 in tissue in pemphigus as a possible new theoretical basis for further elucidate the pathogenesis of pemphigus.Methods The expression of HSP70 in 62 patients with pemphigus was determined by immunohistochemistry,and the normal skin was taken as control.Results The results showed that the positive cells of HSP70＞75 ％ in the blisters of pemphigus vulgaris and the positive cells of HSP70＞50％ in the inflammatory cells near the blisters,and the expression of HSP70 was significantly higher than that in normal skin,which was statistically significant(Z=5.42,4.73,P＜0.01).Conclusion The abnormal expression of HSP70 in inflammatory cells and psoriasis of pemphigus patients showed that HSP70 is involved in the pemphigus.

Clinical Significance of the Levels of IgG Antibodies Against HSV,CMV and EBV in Patients' Serum with Pemphigus Vulgaris / 现代检验医学杂志

Objective To regard the implication of viruses particularly herpes in pemphigus vulgaris,and assess and compare the level of immunoglobulin G (IgG) antibodies against herpes simplex virus types 1 and 2 (HSV1 and HSV2),cytomegalovirus (CMV) and Epstein-Barr virus (EBV) in patients with pemphigus vulgarisand healthy people.Methods In this study,23 patients with pemphigus vulgaris and 26 healthy individuals comprised the experimental and control groups,respectively.Serum samples were taken from both groups;the levels of IgG antibodies against HSV1,HSV2,CMV and EBV were measured using ELISA.Results Immunoglobulin G titer was higher for all four viruses in the patient group in comparison to the control group.This difference was significant for anti-EBV,anti-CMV and anti-HSV2 (t=2.16,P＜0.05;t =4.76,P＜ 0.01;t=3.75,P＜0.01),respectively,but not significant for anti-HSV1 (t=0.52,P＞0.05).Conclusion Viruses including EBV,CMV,and HSV2 probably play a role in the pathogenesis of pemphigus in addition to the effects of genetics,toxins and other predisposing factors.In this study,no statistically significant relationship was observed between HSV1 and pemphigus vulgaris.More studies must be done in this regard.

Mutation analysis of ferrochelatase gene in a pedigree with erythropoietic protoporphyria / 中华皮肤科杂志

Objective To characterize the inheritance of erythropoietic protoporphyria (EPP) by detecting the mutations of ferroehelatase (FECH) gene in a Chinese family with EPP. Methods Peripheral blood samples were obtained from 4 patients and 3 unaffected individuals in a family with EPP, as well as from 50 unrelated healthy human controls. PCR was performed to amplify all the 11 exons and flanking sequence of FECH gene followed by direct sequencing. Results A splicing mutation,I.e., IVS3+1G→A, was identified in the proband as well as his symptomatic sister, cousin, grandfather and asymptomatic mother, but not in his asymptomatic father, grandmother, or unrelated healthy controls. The genotypes IVS1-23 T/C and IVS3-48 C/T were noted in the proband, his father, sister, cousin and grandfather, but absent in his mother or grandmother who carried IVS1-23 C/C and IVS3-48 T/T genotypes. Conclusions A novel splicing mutation is found in the FECH gene in a Chinese EPP family, which, together with two lowly expressed alleles IVS1-23T and IVS3-48C, is likely to be responsible for the clinical phenotype of EPP in this family.

INVESTIGATION ON RELATIONSHIP BETWEEN PREOPERATIONALSENSITIZATION AND CROSSMATCH / 药物分析学报

Objective To explore the relationship between HLA sensitization and crossmatch and to assess its clinical value. Methods The subjects were divided into 3 groups :high sensitization group (PRA≥40％),low sensitization group (40％＞PRA≥10％) and non-sensitization group (PRA＜10％) according to the HLA antibody level detected by ELISA. The results of crossmatch were compared among the 3 groups. Results There was significant difference among the ratio of positive crossmatch in high sensitization group (39.4％),low sensitization group (10.5％)and non-sensitization group (2. 6％). Conclusion The sensitization level is positively correlated with the result of crossmatch. The improvement of matching precision can be made by using both of techniques mentioned above.

Keratin 17 Gene Mutation in a Pedigree with Pachyonychia Congenita typeⅡ / 中华皮肤科杂志

Objective To investigate the gene mutation in a pedigree with pachyonychia congenita typeⅡ(PC-Ⅱ)and to explore the relationship between the mutation and clinical manifestations.Methods The exon1of K17gene of genomic DNA from peripheral blood was amplified by PCR,and the PCR products were sequenced by automated sequencing system.Results In all the3patients of the pedigree with PC-Ⅱ(2patients presented as delayed-onset PC at4and15-16years of age respectively),the codon92(AAT)of K17gene was mutated as AGT,which caused missense mutation(N92S)in the1A domain of keratin17,but the2unaffected members of the pedigree and50unrelated controls had no such mutation.Conclusions Mutation of N92S in the1A domain of keratin17exists in this pedigree with PC-Ⅱ.Our results indicate that mutation in the1A domain of keratin17can present as delayed-onset pachyonychia congenita.Therefore,the site and type of keratin mutation are not the sole determinant of the age of onset for PC-Ⅱ,there may be other genetic and/or environmental factors that determine the age of onset of PC-Ⅱ.