scholarly journals Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease

2018 ◽  
Vol 5 (1) ◽  
Author(s):  
Hiroyuki Akagawa ◽  
Maki Mukawa ◽  
Tadashi Nariai ◽  
Shunsuke Nomura ◽  
Yasuo Aihara ◽  
...  
Author(s):  
Satoshi Nakajima ◽  
Yasutaka Fushimi ◽  
Takeshi Funaki ◽  
Gosuke Okubo ◽  
Akihiko Sakata ◽  
...  

2018 ◽  
Vol 21 (6) ◽  
pp. 632-638 ◽  
Author(s):  
Tomomi Kimiwada ◽  
Toshiaki Hayashi ◽  
Reizo Shirane ◽  
Teiji Tominaga

OBJECTIVESome pediatric patients with moyamoya disease (MMD) present with posterior cerebral artery (PCA) stenosis before and after anterior circulation revascularization surgery and require posterior circulation revascularization surgery. This study evaluated the factors associated with PCA stenosis and assessed the efficacy of posterior circulation revascularization surgery, including occipital artery (OA)–PCA bypass, in pediatric patients with MMD.METHODSThe presence of PCA stenosis before and after anterior circulation revascularization surgery and its clinical characteristics were investigated in 62 pediatric patients (< 16 years of age) with MMD.RESULTSTwenty-three pediatric patients (37%) with MMD presented with PCA stenosis at the time of the initial diagnosis. A strong correlation between the presence of infarction and PCA stenosis before anterior revascularization was observed (p < 0.001). In addition, progressive PCA stenosis was observed in 12 patients (19.4%) after anterior revascularization. The presence of infarction and a younger age at the time of initial diagnosis were risk factors for progressive PCA stenosis after anterior revascularization (p < 0.001 and p = 0.002, respectively). Posterior circulation revascularization surgery, including OA-PCA bypass, was performed in 9 of the 12 patients with progressive PCA stenosis, all of whom showed symptomatic and/or radiological improvement.CONCLUSIONSPCA stenosis is an important clinical factor related to poor prognosis in pediatric MMD. One should be aware of the possibility of progressive PCA stenosis during the postoperative follow-up period and consider performing posterior circulation revascularization surgery.


2018 ◽  
Vol 113 ◽  
pp. e190-e199 ◽  
Author(s):  
Shinsuke Muraoka ◽  
Yoshio Araki ◽  
Goro Kondo ◽  
Michihiro Kurimoto ◽  
Yoshiki Shiba ◽  
...  

2011 ◽  
Vol 27 (8) ◽  
pp. 1281-1287 ◽  
Author(s):  
Eun Kyung Park ◽  
Yun-Ho Lee ◽  
Kyu-Won Shim ◽  
Joong-Uhn Choi ◽  
Dong-Seok Kim

2011 ◽  
Vol 30 (6) ◽  
pp. E21 ◽  
Author(s):  
David G. Weinberg ◽  
Rudy J. Rahme ◽  
Salah G. Aoun ◽  
H. Hunt Batjer ◽  
Bernard R. Bendok

Object Moyamoya disease is an occlusive cerebrovascular disorder commonly resulting in neurocognitive impairment. The cognitive outcome parameters commonly affected are intelligence, memory, executive function, and quality of life. In this paper, the authors review the existing literature on cognitive and clinical outcomes in adult and pediatric moyamoya populations separately. Methods A systematic review of the cognitive and clinical outcome literature was performed using the PubMed/MEDLINE database. Outcomes data were contrasted between adult and pediatric populations. Results Intelligence is the main cognitive outcome parameter affected in pediatric patients with moyamoya disease, whereas adults most commonly suffer from executive function impairment. Memory has not been studied sufficiently in pediatric patients, and its dysfunction in the adult population remains controversial. Quality of life has not been studied appropriately in either population. Surgical revascularization is the only beneficial treatment option, and a combination of direct and indirect bypass techniques has shown benefit, but the impact on the above-mentioned parameters has not been sufficiently elucidated. Conclusions Moyamoya disease affects the cognition and daily function in pediatric patients to a greater extent than in adult patients. Due to the rarity of the disease, there is a distinct lack of high-level evidence regarding cognitive and clinical outcomes.


2008 ◽  
Vol 24 (2) ◽  
pp. E16 ◽  
Author(s):  
Anand Veeravagu ◽  
Raphael Guzman ◽  
Chirag G. Patil ◽  
Lewis C. Hou ◽  
Marco Lee ◽  
...  

✓Neurosurgical interventions for moyamoya disease (MMD) in pediatric patients include direct, indirect, and combined revascularization procedures. Each technique has shown efficacy in the treatment of pediatric MMD; however, no single study has demonstrated the superiority of one technique over another. In this review, the authors explore the various studies focused on the use of these techniques for MMD in the pediatric population. They summarize the results of each study to clearly depict the clinical outcomes achieved at each institution that had utilized direct, indirect, or combined techniques. In certain studies, multiple techniques were used, and the clinical or radiological outcomes were compared accordingly. Direct techniques have been shown to aid a reduction in perioperative strokes and provide immediate revascularization to ischemic areas; however, these procedures are technically challenging, and not all pediatric patients are appropriate candidates. Indirect techniques have also shown efficacy in the pediatric population but may require a longer period for revascularization to occur and perfusion deficits to be reversed. The authors concluded that the clinical efficacy of one technique over another is still unclear, as most studies have had small populations and the same outcome measures have not been applied. Authors who compared direct and indirect techniques noted approximately equal clinical outcomes with differences in radiological findings. Additional, larger studies are needed to determine the advantages and disadvantages of the different techniques for the pediatric age group.


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