RESUMO
We explored a genetic detection method for Treponema pallidum (TP) in the peripheral blood of infected patients to compare the loads of treponemal DNA before and after therapy and to see if this new technique enabled assessment of therapeutic effect and detection of serum resistance. Polymerase chain reaction was used for a qualitative detection of TP DNA in peripheral blood and then a semiquantitative method was adopted to estimate the load of TP DNA in blood, both before and after treatment of syphilis. Among 30 untreated patients, three cases were TP DNA-positive. Among 42 treated patients with demonstrated serum resistance, three cases were TP DNA-positive. Five cases in which the rapid plasma reagin had become negative had no detectable TP DNA in their peripheral blood. The TP DNA load in blood after treatment was significantly lower than that before therapy. We conclude that the detection of TP DNA in peripheral blood of TP-infected patients is not yet sufficiently sensitive, but we observed that TP DNA load declines significantly after treatment.
Assuntos
Carga Bacteriana/métodos , DNA Bacteriano/isolamento & purificação , Monitoramento de Medicamentos/métodos , Sífilis/tratamento farmacológico , Sífilis/microbiologia , Treponema pallidum/isolamento & purificação , Adulto , Sangue/microbiologia , DNA Bacteriano/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase/métodos , Sensibilidade e Especificidade , Treponema pallidum/genética , Adulto JovemRESUMO
BACKGROUND: Friction melanosis (FM) is a common dermatological disorder. Although cases have been reported, familial FM is rare. FM and macular amyloidosis (MA) have been hypothesized to be identical clinical conditions, and cutaneous lichen amyloidosis (CLA) is linked to mutations in the OSMR (oncostatin M receptor) or RET (receptor tyrosine kinase) genes. AIM: To evaluate the OSMR and RET gene mutations in a Chinese family with FM. Methods. We investigated a family with FM with six affected members in four successive generations. All 17 exons of the OSMR and 19 exons of the RET genes were screened for mutation by PCR, and restriction enzyme digestion assays for RET codon 634 mutations were performed for selected members of the family. RESULTS: Based on the pedigree characteristics, we suggest an autosomal dominant mode of inheritance in this FM family. We did not detect any mutations in the OSMR or RET genes. CONCLUSIONS: We report a rare case of familial FM. Genes other than OSMR and RET may be involved in the pathogenesis of this family.
Assuntos
Melanose/genética , Subunidade beta de Receptor de Oncostatina M/genética , Proteínas Proto-Oncogênicas c-ret/genética , Fatores Etários , China , Feminino , Fricção , Predisposição Genética para Doença , Humanos , Melanose/patologia , Mutação/genética , Linhagem , Fatores Sexuais , Adulto JovemRESUMO
Werner syndrome (WS) is an autosomal recessive inherited disease characterized by features of premature ageing. It is caused by mutations of the WRN gene encoding a protein with both exonuclease and helicase activities. The aim of this study was to identify gene mutations in a Chinese patient with WS. A 31-year-old Chinese man with typical features of WS was diagnosed as having probable WS. We performed PCR to scan 33 exons of the WRN gene of the patient, six members of his family, and 50 unrelated controls. Automated DNA sequencing identified the mutation in the patient as 3250delG. The proband's parents, son, younger brother and paternal grandmother were heterozygous. We did not find this heterozygous mutation in the proband's maternal grandmother or in any of 50 normal controls. The novel mutation in the WRN gene is responsible for the pathogenesis of WS and genetic detection is a useful method to confirm the diagnosis.