ABSTRACT
Sjögren syndrome （SS） is a chronic autoimmune disease characterized by immune cell infiltration and progressive destruction of salivary and lacrimal glands. It not only affects the lacrimal and salivary glands， manifested as dry eyes and dry mouth， but also involves heart， lung，kidney，and central nervous system， seriously affecting human physical and mental health. Although western medicine has made extensive and in-depth research on the diagnosis and treatment of this disease in recent years，there is no effective treatment targeting the potential causes. Chinese medicine emphasizes the concept of holism，treatment and prescription formulation based on syndrome differentiation， and effect exertion via multiple targets，multiple levels，and multiple pathways，exhibiting great advantages in the treatment of SS. This paper reviews the mechanisms of Chinese medicine in treating SS from the perspectives of immunity regulation，aquaporin up-regulation， and anti-oxidative stress reported in the related literature，so as to provide more theoretical basis for the research and clinical treatment of SS.
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the gene defect in a hereditary coagulation factor V (FV) deficiency family.</p><p><b>METHODS</b>The plasma FV actigen was measured by one-stage clotting assay. The FV antigen was assayed by Biotin-Avidin enzyme linked immunosorbent assay (BA-ELISA). The full length of exon 1 to exon 25 and the 5' untranslated sequence of FV genomic DNA were analyzed by polymerase chain reaction (PCR) and direct sequencing of the amplified fragments, meanwhile the defect was identified by T/A cloning sequencing.</p><p><b>RESULTS</b>The plasma coagulant activity and amount of FV of the proband were marked deficient (1% and 1.54%, respectively). DNA sequence analysis for the proband revealed a causative mutation in a heterozygous status. It was one base pair deletion in exon 4 at nucleotide 675 inherited from her mother.</p><p><b>CONCLUSIONS</b>A novel mutation in the FV gene was identified in the proband with congenital FV deficiency. The mutation was 675delA in exon 4 resulting in a frameshift and a premature termination codon.</p>