发育和癫痫性脑病(developmental and epileptic encephalopathy,DEE)是指因发育性脑损伤伴频繁痫性活动引起的智力倒退和后续发育迟缓。DEE作为一种神经发育性疾病,在儿童中较多见。癫痫在智力障碍人群中发生率较高,为20%~30%,且癫痫...发育和癫痫性脑病(developmental and epileptic encephalopathy,DEE)是指因发育性脑损伤伴频繁痫性活动引起的智力倒退和后续发育迟缓。DEE作为一种神经发育性疾病,在儿童中较多见。癫痫在智力障碍人群中发生率较高,为20%~30%,且癫痫发生率与患者的智力障碍程度密切相关[1-2]。约16%的癫痫患儿有程度不等的智力损伤[3]。展开更多
目的探讨空腹血糖受损患者KCNB1基因rs1051295位点多态性与特异组织胰岛素抵抗的关系。方法选择76例空腹血糖受损患者,进行口服糖耐量试验,计算特异组织胰岛素抵抗指数即肝脏组织胰岛素抵抗指数(Hepa-IRI)、骨骼肌组织胰岛素敏感指数(Mu...目的探讨空腹血糖受损患者KCNB1基因rs1051295位点多态性与特异组织胰岛素抵抗的关系。方法选择76例空腹血糖受损患者,进行口服糖耐量试验,计算特异组织胰岛素抵抗指数即肝脏组织胰岛素抵抗指数(Hepa-IRI)、骨骼肌组织胰岛素敏感指数(Mus-ISI);采集血液标本,采用焦磷酸测序法检测KCNB1基因rs1051295位点多态性。比较KCNB1基因rs1051295位点不同基因型的Hepa-IRI和Mus-ISI,采用多重线性回归模型分析各基因型和Hepa-IRI、Mus-ISI的相关性。结果空腹血糖受损患者中,Hepa-IRI和Mus-ISI在KCNB1基因rs1051295位点TT基因型高于TC、CC、TC+CC基因型(P均<0.05)。在校正性别、年龄和BMI后,基因型TT与Hepa-IRI存在正相关(TT vs TC:b=0.24,95%CI为0.01~0.48;TT vs CC:b=0.27,95%CI为0.01~0.52;TT vs(TC+CC):b=0.25,95%CI为0.04~0.47),与Mus-ISI存在负相关(TT vs TC:b=-0.18,95%CI为-0.35~-0.01;TT vs CC:b=-0.29,95%CI为-0.51~-0.08;TT vs(TC+CC):b=-0.21,95%CI为-0.37~-0.06)。结论空腹血糖受损患者KCNB1基因rs1051295多态位点TT基因型携带者肝脏和肌肉组织胰岛素抵抗风险显著升高。展开更多
Ion channels modulate cellular excitability by regulating ionic fluxes across biological membranes.Pathogenic mutations in ion channel genes give rise to epileptic disorders that are among the most frequent neurologic...Ion channels modulate cellular excitability by regulating ionic fluxes across biological membranes.Pathogenic mutations in ion channel genes give rise to epileptic disorders that are among the most frequent neurological diseases affecting millions of individuals worldwide.Epilepsies are trigge red by an imbalance between excitatory and inhibitory conductances.However,pathogenic mutations in the same allele can give rise to loss-of-function and/or gain-of-function va riants,all able to trigger epilepsy.Furthermore,certain alleles are associated with brain malformations even in the absence of a clear electrical phenotype.This body of evidence argues that the underlying epileptogenic mechanisms of ion channels are more diverse than originally thought.Studies focusing on ion channels in prenatal cortical development have shed light on this apparent paradox.The picture that emerges is that ion channels play crucial roles in landmark neurodevelopmental processes,including neuronal migration,neurite outgrowth,and synapse formation.Thus,pathogenic channel mutants can not only cause epileptic disorders by alte ring excitability,but further,by inducing morphological and synaptic abnormalities that are initiated during neocortex formation and may persist into the adult brain.展开更多
文摘发育和癫痫性脑病(developmental and epileptic encephalopathy,DEE)是指因发育性脑损伤伴频繁痫性活动引起的智力倒退和后续发育迟缓。DEE作为一种神经发育性疾病,在儿童中较多见。癫痫在智力障碍人群中发生率较高,为20%~30%,且癫痫发生率与患者的智力障碍程度密切相关[1-2]。约16%的癫痫患儿有程度不等的智力损伤[3]。
文摘目的探讨空腹血糖受损患者KCNB1基因rs1051295位点多态性与特异组织胰岛素抵抗的关系。方法选择76例空腹血糖受损患者,进行口服糖耐量试验,计算特异组织胰岛素抵抗指数即肝脏组织胰岛素抵抗指数(Hepa-IRI)、骨骼肌组织胰岛素敏感指数(Mus-ISI);采集血液标本,采用焦磷酸测序法检测KCNB1基因rs1051295位点多态性。比较KCNB1基因rs1051295位点不同基因型的Hepa-IRI和Mus-ISI,采用多重线性回归模型分析各基因型和Hepa-IRI、Mus-ISI的相关性。结果空腹血糖受损患者中,Hepa-IRI和Mus-ISI在KCNB1基因rs1051295位点TT基因型高于TC、CC、TC+CC基因型(P均<0.05)。在校正性别、年龄和BMI后,基因型TT与Hepa-IRI存在正相关(TT vs TC:b=0.24,95%CI为0.01~0.48;TT vs CC:b=0.27,95%CI为0.01~0.52;TT vs(TC+CC):b=0.25,95%CI为0.04~0.47),与Mus-ISI存在负相关(TT vs TC:b=-0.18,95%CI为-0.35~-0.01;TT vs CC:b=-0.29,95%CI为-0.51~-0.08;TT vs(TC+CC):b=-0.21,95%CI为-0.37~-0.06)。结论空腹血糖受损患者KCNB1基因rs1051295多态位点TT基因型携带者肝脏和肌肉组织胰岛素抵抗风险显著升高。
基金NJ Governor’s Council for Medical Research and Treatment of Autism predoctoral fellowship (CAUT23AFP015) to ABNational Science Foundation grant (2030348) to FS。
文摘Ion channels modulate cellular excitability by regulating ionic fluxes across biological membranes.Pathogenic mutations in ion channel genes give rise to epileptic disorders that are among the most frequent neurological diseases affecting millions of individuals worldwide.Epilepsies are trigge red by an imbalance between excitatory and inhibitory conductances.However,pathogenic mutations in the same allele can give rise to loss-of-function and/or gain-of-function va riants,all able to trigger epilepsy.Furthermore,certain alleles are associated with brain malformations even in the absence of a clear electrical phenotype.This body of evidence argues that the underlying epileptogenic mechanisms of ion channels are more diverse than originally thought.Studies focusing on ion channels in prenatal cortical development have shed light on this apparent paradox.The picture that emerges is that ion channels play crucial roles in landmark neurodevelopmental processes,including neuronal migration,neurite outgrowth,and synapse formation.Thus,pathogenic channel mutants can not only cause epileptic disorders by alte ring excitability,but further,by inducing morphological and synaptic abnormalities that are initiated during neocortex formation and may persist into the adult brain.
