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- 저자 : Kuniyasu Niizuma (검색결과 2 건)
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Genetics and Biomarkers of Moyamoya Disease: Significance of RNF213 as a Susceptibility Gene
Miki Fujimura,Shinya Sonobe,Yasuo Nishijima,Kuniyasu Niizuma,Hiroyuki Sakata,Shigeo Kure,Teiji Tominaga 대한뇌졸중학회 2014 Journal of stroke Vol.16 No.2
Moyamoya disease is characterized by a progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. Although its etiology is still unknown, recent genome-wide and locus-specific association studies identified RNF213 as an important susceptibility gene of moyamoya disease among East Asian population. A polymorphism in c.14576G>A in RNF213 was identified in 95% of familial patients with moyamoya disease and 79% of sporadic cases, and patients having this polymorphism were found to have significantly earlier disease onset and a more severe form of moyamoya disease, such as the presentation of cerebral infarction and posterior cerebral artery stenosis. The exact mechanism by which the RNF213 abnormality relates to moyamoya disease remains unknown, while recent reports using genetically engineered mice lacking RNF213 by homologous recombination provide new insight for the pathogenesis of this rare entity. Regarding biomarkers of moyamoya disease, moyamoya disease is characterized by an increased expression of angiogenic factors and pro-inflammatory molecules such as vascular endothelial growth factors and matrix metalloproteinase-9, which may partly explain its clinical manifestations of the pathologic angiogenesis, spontaneous hemorrhage, and higher incidence of cerebral hyperperfusion after revascularization surgery. More recently, blockade of these pro-inflammatory molecules during perioperative period is attempted to reduce the potential risk of surgical complication including cerebral hyperperfusion syndrome. In this review article, we focus on the genetics and biomarkers of moyamoya disease, and sought to discuss their clinical implication.
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Kanako Sato,Toshiki Endo,Hiroyuki Sakata,Tomoo Inoue,Kuniyasu Niizuma,Teiji Tominaga 대한척추신경외과학회 2019 Neurospine Vol.16 No.2
The present study reports the case of an 81-year-old woman who underwent lumboperitoneal shunt (LPS) placement for idiopathic normal-pressure hydrocephalus. After LPS placement, the patient presented with radicular pain. A computed tomography scan revealed that the intradural lumbar catheter was tangled at the T11 vertebra; therefore, we decided to remove the catheter under local anesthesia. When 1 cm of the lumbar catheter was withdrawn, the patient suddenly complained of complete loss of bilateral leg sensation and muscle strength. Emergency magnetic resonance imaging revealed that the lumbar catheter was tangled and wedged into the ventral spinal cord at T11, causing severe spinal cord compression. In the operating room under general anesthesia, the lumbar catheter was removed through a right T12 hemilaminectomy. Postoperatively, her neurological function was fully restored. Although LPS placement is frequently indicated for idiopathic normal-pressure hydrocephalus, recognition of this rare complication is important for proper LPS management.
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