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PDGFRB mutation causes intracranial aneurysm
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作者 Junyu Liu Chunling Wang +8 位作者 Enyu Huang Luming Wang Chengchao Wu Weixi Jiang Mei Wu Xiuru Zhang junxia yan Yeqi Wang Jingjing Zhang 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2024年第9期978-981,共4页
Intracranial aneurysm(IA)is characterized by defects in the middle muscular layer and pathological dilatation of cerebral arteries.The rupture of IA,resulting in aneurysmal subarachnoid hemorrhage,poses a substantial ... Intracranial aneurysm(IA)is characterized by defects in the middle muscular layer and pathological dilatation of cerebral arteries.The rupture of IA,resulting in aneurysmal subarachnoid hemorrhage,poses a substantial public health problem,especially in developed countries,due to its high mortality,morbidity,and socioeconomic burden(Bakker and Ruigrok,2021).Understanding the risk factors for IA is critical for disease prevention.Although numerous studies(Yan et al.,2015;Santiago-Sim et al.,2016;Barak et al.,2021;Liu et al.,2021)have highlighted familial aggregation of IA and identified candidate genes such as ADAMTS15,THSD1,ANK3,and PPIL4,the mechanisms underlying IA formation and rupture remain unclear. 展开更多
关键词 ANEURYSM RUPTURE
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Haemorrhage risk of brain arteriovenous malformation during pregnancy and puerperium 被引量:2
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作者 Junyu Liu Honghao Zhang +5 位作者 Chun Luo Yuxin Guo Yifeng Li Dun Yuan Weixi Jiang junxia yan 《Stroke & Vascular Neurology》 SCIE CSCD 2023年第4期307-317,I0022-I0037,共27页
Background This study aimed to assess whether pregnancy and puerperium were associated with the risk of brain arteriovenous malformation(bAVM)haemorrhage.Methods A retrospective review was conducted in Xiangya Hospita... Background This study aimed to assess whether pregnancy and puerperium were associated with the risk of brain arteriovenous malformation(bAVM)haemorrhage.Methods A retrospective review was conducted in Xiangya Hospital,Central South University from January 2012 to December 2021.A case-crossover design was adopted to calculate the incidence density of bAVM-related haemorrhage among female patients in risk(pregnancy and puerperium)and control(non-pregnancy and non-puerperium)periods,according to four scenarios observed in different populations scenario I:patients with haemorrhagic bAVM of all ages;scenario II:patients with haemorrhagic bAVM of all ages,with at least one previous pregnancy;scenario III:patients with haemorrhagic bAVM who are of reproductive age(15-45 years);scenario IV:patients with haemorrhagic bAVM of reproductive age(15-45 years),with at least one previous pregnancy.Next,a comprehensive literature aggregation(up to April 2022)was performed for evidence synthesis.Results Among the 311 female patients with haemorrhagic bAVM,a significant haemorrhage risk during pregnancy and puerperium was found in Scenarios I(relative risk[RR],2.08;95%CI,1.28 to 3.39),II(RR,3.21;95%CI,1.95 to 5.31)and IV(RR,2.92;95%CI,1.73 to 4.93);however,a suggestive risk was found in scenario III(RR,1.62;95%CI,0.99 to 2.67).Evidence synthesis revealed a consistent haemorrhage risk among patients of all ages(RR,3.15;95%CI,1.93 to 5.15)and those of reproductive age(RR,1.29;95%CI,0.89 to 1.86).Conclusion Compared with most previous studies,a higher but relatively moderate risk for bAVM-related haemorrhage was identified during pregnancy and puerperium.Individualised prevention and treatment strategies should be preferred when neurosurgeons make clinical decisions. 展开更多
关键词 PREGNANCY MALFORMATION PREVENTION
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