[Studies on non-alkaloid constituents from Ochrosia elliptica].

The chemical consituents from Ochrosia elliptica were separated and purified by column chromatographies on silica gel, Sephadex LH-20, ODS and RP-HPLC. The structures of the isolated compounds were identified on the basis of physicochemical properties and spectroscopic analysis, as well as comparisons with the data in the literature. 18 compounds were isolated and elucidated as (+) -pinoresinol(1), (+) -medioresinol (2), (+) -lariciresinol (3), (+) -5'-methoxy lariciresinol(4), (+) -isolariciresinol (5), syringaresinol(6), episyringaresinol (7), ciwujiatone (8), zhebeiresinol (9), 7-hydroxycoumarin (10), 7-methoxycoumarin (11), scopoletin(12), isofraxidin(13), caffeic acid ethyl ester (14), ferulic acid (15), p-hydroxybenzaldehyde (16), vanillin (17), and vanillic acid(18). All compounds were isolated from the genus Ochrosia for the first time.

A novel splice site mutation in ANTXR2 (CMG2) gene results in systemic hyalinosis.

Systemic hyalinosis is a rare autosomal recessive inheritance disease characterized by accumulation of amorphous, unidentified hyaline material in skin and other organs, which leads to papulonodular skin lesions, gingival hypertrophy, flexion contractures of the joints, and large subcutaneous tumors. It is composed of 2 allelic syndromes, infantile systemic hyalinosis and juvenile hyaline fibromatosis. Here we describe a patient with juvenile hyaline fibromatosis confirmed by clinical and histopathologic findings, and genetic analysis, which revealed a novel homozygous splice site mutation IVS14+1G→T on exon 14 in anthrax toxin receptor 2 gene.

Genetic association of TLR4/11367 polymorphism with late-onset Alzheimer's disease in a Han Chinese population.

The amyloid beta-protein (A-ß) deposits in the brains of patients with Alzheimer's disease (AD) are closely associated with innate immune responses that were assumed to play a pivotal role in the pathogenesis of AD. Toll-like receptor 4 (TLR4) is thought to contribute to Aß clearance. Studies have reported the presence and functional significance of the TLR4/11367 polymorphism in a Han Chinese population. To evaluate the involvement of the TLR4/11367 polymorphism in the risk of late-onset Alzheimer's disease (LOAD), we performed a case-control study to analyze the genotype and allele distributions of the TLR4/11367 polymorphism in a Han Chinese population (137 LOAD cases and 137 healthy controls). There were significant differences in genotype and allele frequencies between LOAD cases and controls (genotype P<0.001, allele P<0.001). After stratification by APOE ε4-carrying status, the C allele of the TLR4/11367 polymorphism was still significantly associated with LOAD in APOE ε4 non-carriers (OR=5.77, 95% CI=3.03-11.00, P<0.001) and carriers (OR=2.03, 95% CI=1.03-3.98, P=0.04). In addition, a logistic regression analysis also conferred positive association between TLR4/11367C and LOAD (dominant model: ORa=3.08, 95% CI=1.60-5.93, P=0.001; recessive model: ORa=8.79, 95% CI=3.31-23.36, P<0.001; additive model: ORa=2.75, 95% CI=1.73-4.37, P<0.001) after adjustment for age, gender, and the APOE ε4 carrier status. This study gives the first evidence that the TLR4/11367 polymorphism was associated with LOAD in a Han Chinese population.