Chinese medical journal
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Chinese medical journal · Apr 2012
Association between the eNOS gene polymorphisms and rheumatoid arthritis risk in a northern Chinese population.
Several genetic polymorphisms in the endothelial nitric oxide synthase (eNOS) gene are associated with the pathogenesis of rheumatoid arthritis (RA). The objective of the present study was to investigate whether the two SNPs (T-786C and G894T) of the eNOS gene are associated with rheumatoid arthritis risk in a northern Chinese population. ⋯ Individuals with the -786CC genotype have an increased risk of rheumatoid arthritis. Further study with an increased sample size is necessary for the study of the role of this SNP in rheumatoid arthritis.
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Chinese medical journal · Apr 2012
Biological characteristics of the cerebral venous system and its hemodynamic response to intracranial hypertension.
The role of the cerebral venous system (CVS) in intracranial pressure (ICP) regulation remains largely unclear. In the present study, the interaction between ICP and the cerebral venous system and its possible mechanism were investigated with respect to the biological characteristics of the cerebral venous system and its hemodynamic response under increased ICP. ⋯ The existence of this special pathophysiological process is prevalent, rather than rare, in various intracranial disorders. This finding would definitely provide new insight into the area of cerebral venous system research.
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Chinese medical journal · Apr 2012
Case ReportsA novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease.
Type B Niemann-Pick disease is an autosomal recessive sphingolipidosis due to mutations in the sphingomyelin phosphodiesterase 1 gene (SMPD1). Here we present molecular findings for two sibling patients. One mutation V36A due to c.107T>C in exon 1 is a single nucleotide polymorphism and the other N522S due to c.1565 A>G in exon 6 is a novel missense mutation. This non-fatal missense mutation leads to –20% residual lysosomal acid sphingomyelinase activity in vitro and only results in hepatosplenomegaly without neurologic involvement.
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Chinese medical journal · Apr 2012
Risk factors for the development of vaginal intraepithelial neoplasia.
Vaginal intraepithelial neoplasia (VAIN), as a precursor of vaginal cancer, is a rare disease. Its prevalence has not been well analyzed. This research is to ascertain the risk factors for VAIN in a Chinese population. ⋯ HPV infection and a history of CIN or cervical cancer are the main risk factors for the development of VAIN.
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Chinese medical journal · Apr 2012
Relationship of plasminogen activator inhibitor 1 gene 4G/5G polymorphisms to hypertension in Korean women.
Hypertension (HTN) is a major determinant of various cardiovascular events. Plasma levels of plasminogen activator inhibitor 1 (PAI-1) modulate this risk. A deletion/insertion polymorphism within the PAI-1 loci (4G/4G, 4G/5G, 5G/5G) affects the expression of this gene. The present study investigated the association between PAI-1 loci polymorphisms and HTN in Korean women. ⋯ These findings might indicate that PAI-1 loci polymorphisms independently contribute to HTN and that gene-environmental interaction may be not associated in Korean women.