RESUMO
Objective To establish the molecular genetic assay for presymptometical diagnosis of Wilson disease(WD). Methods Chromosome haplotype of WD was constructed using three genetic markers.Disease-causing mutations of Wilson disease gene(WND) were examined among the WD probands and their sib by PCR-SSCP and DNA sequencing analysis in WD pedigrees, to expound whether the disease causing mutations of WD patients gene was simila to that of their probands.Results Two presymptomatical WD patients were diagnosed correctly in ten WD pedigrees, including one newborn girl. One carrier ,who has a lower serum ceruloplasmin(sCP) level,was discovered. Conclusions Presymptomatical WD diagnosis can be made by haplotype analysis and mutation examination.So that, WD patients can be properly treated in their early stage.
RESUMO
Objective To study on the expressions of bFGF, PDGF and TSP-1 mRNA in small intestinal carcinoma and adenoma and their clinico-pathological significance. Methods The specimens were continuously sliced into pieces. The expression of bFGF, PDGF and TSP-1 mRNA was determined by in situ hybridization. Results bFGF, PDGF and TSP-1 was positive in 57%,48% and 36% respectively in 44 cases of small intestinal adenocarcinoma, and was 20%, 30% and 90% in 10 of adenoma respectively. The positivity rates of bFGF mRNA and PDGF mRNA were significantly lower in adenocarcinoma of Ⅰ～Ⅱ grade, without invading muscular layer or invading superficial layer, maximal diameter of tumor mass
RESUMO
Modern medicine is in the new phase of transform from biomedical model to bio-psycho-social medical model. Biological factors interact with the social and psychological factors. We should think highly of not only biological factor but also social factor and psychological factor in the prevention and treatment of gastrointestinal tumor. It is an important mission of medical workers to carry out new medical model in clinical practice.