1.Relationship between body fat distribution and pulse wave velocity in middle-aged and aged population
Xiafeng YAN ; Jianjun WANG ; Siqin REN ; Fenglei ZHANG
The Journal of Practical Medicine 2015;31(16):2645-2648
Objective To investigate the relationship between body fat distribution and pulse wave velocity (PWV) in middle-aged and aged population. Methods Two hundred patients received health examination were enrolled into the male group (103 cases) and the female group (97 cases). Visceral fat volume (VFV), subcutaneous fat volume (SFV) and ba-PWV were determined. Results Compared to patients in the female group, patients in the male group had significantly higher VFV values [(3.17 ± 0.84) kg vs (2.30 ± 0.94) kg], and lower SFV values [(15.56 ± 3.49) kg vs (17.69 ± 4.82) kg], In the male group, there existed a positive correlation between ba-PWV and age, VFV, fasting blood glucose,SBP and DBP. In the female group, a positive correlation was found between ba-PWV and age, SFV, TG, BUN, SBP and DBP, while a negative correlation was observed for HDL-C and Apo A1. Conclusion There was gender differences in body fat distribution in middle-aged and aged healthy population. In the male group , age, VFV, SBP, and DBP were the only independent and significant risk factors for ba-PWV. In the female group , age, SBP and Apo A1 were the independent risk factors for ba-PWV.
2.Clinical, pathological and molecular genetic studies on a pedigree with late-onset Pompe's disease complicated with cerebral vascular diseases
Yuying ZHAO ; Bing ZHAO ; Xiafeng YANG ; Yihua SUN ; Wei LI ; Chuanzhu YAN
Chinese Journal of Neurology 2012;45(8):561-565
Objective To report a pedigree with late-onset Pompe' s disease complicated with cerebral vascular diseases as to summarize their clinical,pathological and molecular genetic characteristics.Methods We investigated the clinical and pathological data of the two affected siblings with late-onset Pompe' s disease complicated with cerebral vascular diseases.All the 5 members of this pedigree accepted the GAA gene analysis.ResultsBoth affected siblings had progressive pelvic girdle muscle weakness from young adult age,and recently developed vertigo and ataxia.Brain imaging of them revealed multiple cerebral hemorrhage,infarction and diffuse ischemic white matter lesions.The brother had multiple aneurysms and stenoses of cerebral arteries revealed by brain CTA.However,his sister was only found to have multi-beaded stenoses of cerebral arteries.The muscle pathology of the brother showed typical vacuolar degeneration and glycogen storage in muscle fibers. The GAA enzyme activity of 2 siblings were dramatically lower than normal.A heterozygous 19 bp-deletion (c.1388-c.1406,exon 9) were found in GAA gene in the 2 siblings and their healthy mother. Conclusions Cerebrovascular involvement should be a special phenotype of Pompe' s disease.A novel heterozygous mutation c.1388del19 in GAA gene was found in this pedigree,but the relationship between the mutation and the rare clinical phenotype needs further study.