Background Genetic factors are important in the pathogenesis of osteoporosis,but less is known about the genetic determinants of osteoporosis treatment.We aimed to explore the association between the gene polymorphism...Background Genetic factors are important in the pathogenesis of osteoporosis,but less is known about the genetic determinants of osteoporosis treatment.We aimed to explore the association between the gene polymorphisms of key enzyme farnesyl diphosphate synthase （FDPS） in mevalonate signaling pathway of osteoclast and response to alendronate therapy in osteoporotic postmenopausal women in China.Methods The study group comprised 639 postmenopausal women aged （62.2＆#177;7.0） years with osteoporosis or osteopenia who had been randomly assigned to low dose group （70 mg/2w） or standard dose group （70 mg/w） of alendronate in this 1-year study.We identified allelic variant of the FDPS gene using the polymerase chain reaction and restriction enzyme Faul.Before and after treatment,serum levels of calcium,phosphate,alkaline phosphatase （ALP）,cross linked C-telopeptide of type Ⅰ collagen （β-CTX） were detected.Bone mineral density （BMD） at lumbar spine and proximal femur was measured.The association was analyzed between the polymorphisms of FDPS gene and the changes of BMD,bone turnover biomarkers after the treatment.Results The FDPS rs2297480 polymorphisms were associated with baseline BMD at femoral neck,and patients with CC genotype had significantly higher baseline femoral neck BMD （（733.6＆#177;84.1） mg/cm2） than those with AC genotypes （（703.0＆#177;86.9） mg/cm2） and AA genotypes （（649.8＆#177;62.4） mg/cm2） （P 〈0.01）.No significant difference in BMD at lumbar spine was observed among different genotypes of FDPS.The percentage change of serum ALP level was significantly lower in patients with CC genotype （-22.9%） than that in those with AC genotype （-24.1%） and AA genotype （-29.8%） of FDPS after 12 months of alendronate treatment （P 〈0.05）.Neither percentage change of BMD nor β-CTX level after alendronate treatment had association with FDPS genotype.Conclusions FDPS gene was probably a candidate gene to predict femoral neck BMD at baseline.FDPS gene alleles could predict change percentage of ALP after treatment of alendronate,but possibly had no significant relationship with the responsiveness of BMD to alendronate therapy.展开更多
Background Intra-cerebral hemorrhage （ICH） is a devastating complication that can result from superficial temporal artery-middle cerebral artery （STA-MCA） bypass in patients undergoing treatment for steno-occlusiv...Background Intra-cerebral hemorrhage （ICH） is a devastating complication that can result from superficial temporal artery-middle cerebral artery （STA-MCA） bypass in patients undergoing treatment for steno-occlusive cerebrovascular disease （CVD）.There is a clinical need to find the possible risk factors to prevent ICH,as it is a significant cause of mortality and morbidity.The aim of the study was to investigate the factors associated with delayed ICH after STA-MCA bypass in patients with steno-occlusive CVDs.Methods We retrospectively analyzed the records of 163 patients seen from 2002 to 2011 with STA-MCA bypass for steno-occlusive cerebrovascular diseases at the Department of Neurosurgery,Xuan Wu Hospital,Beijing.Demographic and clinical data,including age,gender,vascular risk factors,preoperative syndrome,preoperative National Institutes of Health Stroke Scale （NIHSS）,ipsilateral ischemic lesions,classification of steno-occlusive CVDs,donor branches of STA,graft patency,postoperative hypertension,and postoperative-increased MCA velocity were recorded and analyzed.Binary Logistic regression served to identify factors associated with delayed ICH after STA-MCA bypass.Results We identified 8 （4.9%） patients with delayed ICH after STA-MCA bypass.Patients with hypertension,preoperative stroke,ipsilateral ischemic lesions,postoperative hypertension and postoperative-increased MCA velocity were significantly more prone to experiencing delayed ICH after STA-MCA bypass.Logistic regression analysis shows ipsilateral ischemic lesions,postoperative hypertension,and postoperative-increased MCA velocity remained independent predictors for delayed ICH after STA-MCA bypass.Conclusion Despite the varied associated factors in patients with steno-occlusive CVDs,ipsilateral ischemic lesions,postoperative hypertension,and postoperative-increased MCA velocity could be associated with delayed ICH after STAMCA bypass.展开更多
基金grants from the National Natural Science Foundation of China，National Key Program of Clinical Science
文摘Background Genetic factors are important in the pathogenesis of osteoporosis,but less is known about the genetic determinants of osteoporosis treatment.We aimed to explore the association between the gene polymorphisms of key enzyme farnesyl diphosphate synthase （FDPS） in mevalonate signaling pathway of osteoclast and response to alendronate therapy in osteoporotic postmenopausal women in China.Methods The study group comprised 639 postmenopausal women aged （62.2＆#177;7.0） years with osteoporosis or osteopenia who had been randomly assigned to low dose group （70 mg/2w） or standard dose group （70 mg/w） of alendronate in this 1-year study.We identified allelic variant of the FDPS gene using the polymerase chain reaction and restriction enzyme Faul.Before and after treatment,serum levels of calcium,phosphate,alkaline phosphatase （ALP）,cross linked C-telopeptide of type Ⅰ collagen （β-CTX） were detected.Bone mineral density （BMD） at lumbar spine and proximal femur was measured.The association was analyzed between the polymorphisms of FDPS gene and the changes of BMD,bone turnover biomarkers after the treatment.Results The FDPS rs2297480 polymorphisms were associated with baseline BMD at femoral neck,and patients with CC genotype had significantly higher baseline femoral neck BMD （（733.6＆#177;84.1） mg/cm2） than those with AC genotypes （（703.0＆#177;86.9） mg/cm2） and AA genotypes （（649.8＆#177;62.4） mg/cm2） （P 〈0.01）.No significant difference in BMD at lumbar spine was observed among different genotypes of FDPS.The percentage change of serum ALP level was significantly lower in patients with CC genotype （-22.9%） than that in those with AC genotype （-24.1%） and AA genotype （-29.8%） of FDPS after 12 months of alendronate treatment （P 〈0.05）.Neither percentage change of BMD nor β-CTX level after alendronate treatment had association with FDPS genotype.Conclusions FDPS gene was probably a candidate gene to predict femoral neck BMD at baseline.FDPS gene alleles could predict change percentage of ALP after treatment of alendronate,but possibly had no significant relationship with the responsiveness of BMD to alendronate therapy.
文摘Background Intra-cerebral hemorrhage （ICH） is a devastating complication that can result from superficial temporal artery-middle cerebral artery （STA-MCA） bypass in patients undergoing treatment for steno-occlusive cerebrovascular disease （CVD）.There is a clinical need to find the possible risk factors to prevent ICH,as it is a significant cause of mortality and morbidity.The aim of the study was to investigate the factors associated with delayed ICH after STA-MCA bypass in patients with steno-occlusive CVDs.Methods We retrospectively analyzed the records of 163 patients seen from 2002 to 2011 with STA-MCA bypass for steno-occlusive cerebrovascular diseases at the Department of Neurosurgery,Xuan Wu Hospital,Beijing.Demographic and clinical data,including age,gender,vascular risk factors,preoperative syndrome,preoperative National Institutes of Health Stroke Scale （NIHSS）,ipsilateral ischemic lesions,classification of steno-occlusive CVDs,donor branches of STA,graft patency,postoperative hypertension,and postoperative-increased MCA velocity were recorded and analyzed.Binary Logistic regression served to identify factors associated with delayed ICH after STA-MCA bypass.Results We identified 8 （4.9%） patients with delayed ICH after STA-MCA bypass.Patients with hypertension,preoperative stroke,ipsilateral ischemic lesions,postoperative hypertension and postoperative-increased MCA velocity were significantly more prone to experiencing delayed ICH after STA-MCA bypass.Logistic regression analysis shows ipsilateral ischemic lesions,postoperative hypertension,and postoperative-increased MCA velocity remained independent predictors for delayed ICH after STA-MCA bypass.Conclusion Despite the varied associated factors in patients with steno-occlusive CVDs,ipsilateral ischemic lesions,postoperative hypertension,and postoperative-increased MCA velocity could be associated with delayed ICH after STAMCA bypass.
