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Moyamoya

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https://www.readbyqxmd.com/read/28320162/rnf213-rs112735431-polymorphism-in-intracranial-artery-steno-occlusive-disease-and-moyamoya-disease-in-koreans
#1
Min-Gyu Park, Jin-Hong Shin, Sang Weon Lee, Hae Rim Park, Kyung-Pil Park
BACKGROUND: The rs112735431 polymorphism of the RNF213, a susceptibility variant for moyamoya disease (MMD), may be associated with non-MMD intracranial artery steno-occlusive disease of non-MMD type (non-MMD ICAD) in Asian. We investigated whether the rs112735431 polymorphism of the RNF213 affect the development of non-MMD ICAD in Koreans compared to MMD and control group. METHODS: We included 31 patients with non-MMD ICAD, 25 patients with MMD, and 100 participants as control group...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28291429/pathophysiological-consideration-of-medullary-streaks-on-flair-imaging-in-pediatric-moyamoya-disease
#2
Hime Suzuki, Takeshi Mikami, Tomoyoshi Kuribara, Kazuhisa Yoshifuji, Katsuya Komatsu, Yukinori Akiyama, Hirofumi Ohnishi, Kiyohiro Houkin, Nobuhiro Mikuni
OBJECTIVE Medullary streaks detected on fluid-attenuated inversion recovery (FLAIR) imaging have been considered to be reflected ischemic regions in pediatric moyamoya disease. The purpose of this study was to evaluate these medullary streaks both clinically and radiologically and to discuss associated pathophysiological concerns. METHODS The authors retrospectively reviewed data from 14 consecutive pediatric patients with moyamoya disease treated between April 2009 and June 2016. Clinical and radiological features and postoperative imaging changes were analyzed...
March 10, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28291427/incidence-clinical-features-and-treatment-of-familial-moyamoya-in-pediatric-patients-a-single-institution-series
#3
Jonathan Gaillard, Jennifer Klein, Daniel Duran, Armide Storey, R Michael Scott, Kristopher Kahle, Edward R Smith
OBJECTIVE Limited data exist on familial moyamoya in children. The purpose of this study was to characterize presentation and outcomes of pediatric moyamoya patients who have relatives diagnosed with moyamoya. METHODS The authors performed a single-institution retrospective analysis of a case series including all surgically treated children with moyamoya with first- or second-degree relatives with moyamoya. Clinical and radiographic characteristics were analyzed, along with surgical outcomes. RESULTS A total of 537 patients underwent surgery for moyamoya during the study period...
March 10, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28289923/tocilizumab-reverses-cerebral-vasculopathy-in-a-patient-with-homozygous-samhd1-mutation
#4
REVIEW
Michael Henrickson, Heng Wang
An auto-inflammatory syndrome consequent to SAMHD1 mutations involves cerebral vasculopathy characterized by multifocal stenosis and aneurysms within large arteries, moyamoya, chronic ischemia, and early-onset strokes (SAMS). While this condition involves the innate immune system, additional clinical features mimic systemic lupus erythematosus. Mutations in this gene can also cause a subset of the rare genetic condition Aicardi-Goutières syndrome. To date, no established therapy successfully prevents disease progression...
March 13, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28289629/neurocognitive-dysfunction-according-to-hypoperfusion-territory-in-patients-with-moyamoya-disease
#5
Chang Gu Kang, Min Ho Chun, Jung-A Kang, Kyung Hee Do, Su Jin Choi
OBJECTIVE: To demonstrate the prevalence of cerebral hypoperfusion without focal cerebral lesions in patients with Moyamoya disease (MMD), and the relationship between areas of hypoperfusion and cognitive impairment. METHODS: Twenty-six MMD patients were included. Patients were categorized according to the presence/absence of hypoperfusion in the frontal, parietal, temporal, and occipital lobes on brain single-photon-emission computed tomography (SPECT) after acetazolamide challenge...
February 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28283605/baseline-hemodynamic-impairment-and-future-stroke-risk-in-adult-idiopathic-moyamoya-phenomenon-results-of-a-prospective-natural-history-study
#6
Colin P Derdeyn, Gregory J Zipfel, Allyson R Zazulia, Patricia H Davis, Shyam Prabhakaran, Cristina S Ivan, Venkatesh Aiyagari, James R Sagar, Nancy Hantler, Lina Shinawi, John J Lee, Hussain Jafri, Robert L Grubb, J Philip Miller, Ralph G Dacey
BACKGROUND AND PURPOSE: The purpose was to test the hypothesis that increased oxygen extraction fraction (OEF), a marker of severe hemodynamic impairment measured by positron emission tomography, is an independent risk factor for subsequent ischemic stroke in this population. METHODS: Adults with idiopathic moyamoya phenomena were recruited between 2005 and 2012 for a prospective, multicenter, blindly adjudicated, longitudinal cohort study. Measurements of OEF were obtained on enrollment...
March 10, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28281383/meandering-flow-void-around-the-splenium-in-moyamoya-disease
#7
Takeshi Mikami, Tomoyoshi Kuribara, Katsuya Komatsu, Yusuke Kimura, Masahiko Wanibuchi, Kiyohiro Houkin, Nobuhiro Mikuni
OBJECTIVES: Meandering flow void around the splenium, which can be recognized on conventional T2-weighted images, implicates collateral flow in the splenial artery in patients with moyamoya disease. In this report, curves of flow voids around the splenium (SFVs) were evaluated in patients with moyamoya disease, and their diagnostic value and pathophysiology were verified. METHODS: A total of 65 consecutive patients with moyamoya disease were included in this analysis...
March 10, 2017: Neurological Research
https://www.readbyqxmd.com/read/28279525/-ivy-sign-and-moyamoya-disease-in-a-child-with-neurofibromatosis-type-1
#8
Sarah Novara, Sumit Singh, Salman Rashid
No abstract text is available yet for this article.
February 16, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28276529/the-contrast-enhancement-of-intracranial-arterial-wall-on-high-resolution-mri-and-its-clinical-relevance-in-patients-with-moyamoya-vasculopathy
#9
Maoxue Wang, Yongbo Yang, Fei Zhou, Ming Li, Renyuan Liu, Maobin Guan, Rui Li, Le He, Yun Xu, Bing Zhang, Bin Zhu, Xihai Zhao
The purpose of this study is to investigate the characteristics of intracranial vessel wall enhancement and its relationship with ischemic infarction in patients with Moyamoya vasculopathy (MMV). Forty-seven patients with MMV confirmed by angiography were enrolled in this study. The vessel wall enhancement of the distal internal carotid artery, anterior cerebral artery and middle cerebral artery was classified into eccentric and concentric patterns, as well as divided into three grades: grade 0, grade 1 and grade 2...
March 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28276505/alternative-exon-skipping-biases-substrate-preference-of-the-deubiquitylase-usp15-for-mysterin-rnf213-the-moyamoya-disease-susceptibility-factor
#10
Yuri Kotani, Daisuke Morito, Kenshiro Sakata, Shiori Ainuki, Munechika Sugihara, Tomohisa Hatta, Shun-Ichiro Iemura, Seiji Takashima, Tohru Natsume, Kazuhiro Nagata
The deubiquitylating enzyme USP15 plays significant roles in multiple cellular pathways including TGF-β signaling, RNA splicing, and innate immunity. Evolutionarily conserved skipping of exon 7 occurs during transcription of the mRNAs encoding USP15 and its paralogue USP4, yielding two major isoforms for each gene. Exon 7 of USP15 encodes a serine-rich stretch of 29 amino acid residues located in the inter-region linker that connects the N-terminal putative regulatory region and the C-terminal enzymatic region...
March 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28245439/demographic-risk-factors-for-vascular-lesions-as-etiology-of-intraventricular-hemorrhage-in-prospectively-screened-cases
#11
Maged D Fam, Alice Pang, Hussein A Zeineddine, Steven Mayo, Agnieszka Stadnik, Michael Jesselson, Lingjiao Zhang, Rachel Dlugash, Wendy Ziai, Daniel Hanley, Issam A Awad
BACKGROUND: Spontaneous intraventricular hemorrhage (IVH) is associated with high rates of morbidity and mortality despite critical care and other advances. An important step in clinical management is to confirm/rule out an underlying vascular lesion, which influences further treatment, potential for further bleeding, and prognosis. Our aim is to compare demographic and clinical characteristics between IVH patients with and without an underlying vascular lesion, and among cohorts with different vascular lesions...
February 28, 2017: Cerebrovascular Diseases
https://www.readbyqxmd.com/read/28240586/moyamoya-disease-and-systemic-sclerosis-mosys-syndrome-a-combination-of-two-rare-entities-comment-to-the-authors
#12
Ellen De Langhe, Jan Lenaerts, Philippe Demaerel, Robin Lemmens
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February 23, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28238458/increased-levels-of-anti-phosphatidylcholine-and-anti-phosphatidylethanolamine-antibodies-in-pediatric-patients-with-cerebral-infarction
#13
Seigo Korematsu, Hiroshi Yamada, Hiroaki Miyahara, Kenji Ihara
Cerebral infarction in children is rare and often occurs secondary to moyamoya disease, hereditary coagulopathies, vasculitis, antiphospholipid antibody syndrome, heart disease, mitochondrial disease. However, in some cases, the causes of cerebral infarction is unknown. In this study, we detected increased levels of serum anti-phosphatidylcholine and anti-phosphatidylethanolamine IgG antibodies in three pediatric patients with cerebral infarction whose primary disorders are unknown by routine examination. For the five disease control patients of cerebral infarction due to other primary disorders, there was no such increase in these antibodies levels...
February 23, 2017: Brain & Development
https://www.readbyqxmd.com/read/28237043/tuberous-sclerosis-complex-and-polycystic-kidney-disease-contiguous-gene-syndrome-with-moyamoya-disease
#14
Jonathan Lai, Lopa Modi, Daryl Ramai, Matthew Tortora
Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two diseases sharing close genetic loci on chromosome 16. Due to contiguous gene syndrome, also known as contiguous gene deletion syndrome, the proximity of TSC2 and PKD1 genes increases the risk of co-deletion resulting in a shared clinical presentation. Furthermore, Moyamoya disease (MMD) is a rare vaso-occlusive disease in the circle of Willis. We present the first case of TSC2/PKD1 contiguous gene syndrome in a patient with MMD along with detailed histopathologic, radiologic, and cytogenetic analyses...
January 3, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28221268/moyamoya-syndrome-associated-with-hereditary-spherocytosis-an-emerging-clinical-entity
#15
Eleanor Gait-Carr, Daniel J A Connolly, David King
Moyamoya syndrome is an unusual cerebrovascular disorder, which has rarely been reported in association with hereditary spherocytosis. We present the case of a 6-year-old boy with hereditary spherocytosis who was diagnosed with Moyamoya syndrome following a stroke. We discuss why these conditions may coexist and briefly outline the management of such children.
February 17, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28221195/brain-perfusion-before-and-after-surgical-treatment-of-moyamoya-disease
#16
Clément Drouet, Olivier Morel, Laurent Thines, Clémence Porot, Hatem Boulahdour
Moyamoya disease is characterized by bilateral progressive terminal internal carotid arteries steno-occlusion. In this patient, the disease affected middle cerebral arteries and was disclosed after a left frontal cerebral infarction. Brain HMPAO perfusion scintigraphy with acetazolamide challenge, obtained before surgical treatment, demonstrates an extended bilateral frontal hypoperfusion with a vascular steal phenomenon. The same examination obtained after surgical treatment demonstrates a frank improvement in basal brain vascularization, with nearly complete correction of vascular steal phenomenon...
February 17, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28217173/moyamoya-disease-involving-anterior-and-posterior-circulation
#17
Rajesh Verma, Ajay Panwar, Kamal Nagar
No abstract text is available yet for this article.
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28209582/noninvasive-evaluation-of-cbf-and-perfusion-delay-of-moyamoya-disease-using-arterial-spin-labeling-mri-with-multiple-postlabeling-delays-comparison-with-15-o-gas-pet-and-dsc-mri
#18
S Hara, Y Tanaka, Y Ueda, S Hayashi, M Inaji, K Ishiwata, K Ishii, T Maehara, T Nariai
BACKGROUND AND PURPOSE: Arterial spin-labeling MR imaging with multiple postlabeling delays has a potential to evaluate various hemodynamic parameters. To clarify whether arterial spin-labeling MR imaging can identify CBF and perfusion delay in patients with Moyamoya disease, we compared arterial spin-labeling, DSC, and (15)O-gas PET in terms of their ability to identify these parameters. MATERIALS AND METHODS: Eighteen patients with Moyamoya disease (5 men, 13 women; ages, 21-55 years) were retrospectively analyzed...
February 16, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28204602/measuring-cerebral-blood-flow-in-moyamoya-angiopathy-by-quantitative-magnetic-resonance-angiography-noninvasive-optimal-vessel-analysis
#19
Nadia Khan, Robert M Lober, Lauren Ostergren, Jacob Petralia, Teresa Bell-Stephens, Ramon Navarro, Abdullah Feroze, Gary K Steinberg
No abstract text is available yet for this article.
February 14, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28202831/-development-of-intracerebral-hemorrhage-and-subarachnoid-hemorrhage-shortly-after-cerebral-infarction-onset-in-an-adult-patient-with-moyamoya-disease
#20
Jun Yoshida, Yoshitaka Kubo, Kenji Yoshida, Kohei Chida, Masakazu Kobayashi, Kuniaki Ogasawara
Here we describe the case of a patient with moyamoya disease who developed cerebral infarction followed shortly by subarachnoid hemorrhage and intracerebral hemorrhage. A 50-year-old woman presenting with sudden and transient weakness of the left lower limb was transferred to a local hospital. Magnetic resonance imaging(MRI)revealed cerebral infarction in the corpus callosum and in the bilateral frontal lobes induced by moyamoya disease. Pyramidal tract was not affected. The patient was treated with an anti-platelet agent(ozagrel sodium 160mg/day)and did not undergo intentional antihypertensive therapy...
February 2017: No Shinkei Geka. Neurological Surgery
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