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Moyamoya disease

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https://www.readbyqxmd.com/read/28343148/de-novo-mutations-in-cbl-causing-early-onset-paediatric-moyamoya-angiopathy
#1
Stéphanie Guey, Lou Grangeon, Francis Brunelle, Françoise Bergametti, Jeanne Amiel, Stanislas Lyonnet, Audrey Delaforge, Minh Arnould, Béatrice Desnous, Céline Bellesme, Dominique Hervé, Jan C Schwitalla, Markus Kraemer, Elisabeth Tournier-Lasserve, Manoelle Kossorotoff
BACKGROUND: Moyamoya angiopathy (MMA) is characterised by a progressive stenosis of the terminal part of the internal carotid arteries and the development of abnormal collateral deep vessels. Its pathophysiology is unknown. MMA can be the sole manifestation of the disease (moyamoya disease) or be associated with various conditions (moyamoya syndrome) including some Mendelian diseases. We aimed to investigate the genetic basis of moyamoya using a whole exome sequencing (WES) approach conducted in sporadic cases without any overt symptom suggestive of a known Mendelian moyamoya syndrome...
March 25, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28327981/long-term-outcome-after-multiple-burr-hole-surgery-in-children-with-moyamoya-angiopathy-a-single-center-experience-in-108-hemispheres
#2
Thomas Blauwblomme, Bertrand Mathon, Olivier Naggara, Manoelle Kossorotoff, Marie Bourgeois, Stéphanie Puget, Philippe Meyer, Valentine Brousse, Marianne de Montalembert, Francis Brunelle, Michel Zerah, Christian Sainte-Rose
BACKGROUND: Multiple burr hole (MBH) surgery is a simple, safe, and effective indirect technique of revascularization in moyamoya angiopathy (MM). However, it is not yet recognized as a first-line treatment. OBJECTIVE: To assess the long-term outcome and perioperative complications in a large single-center cohort of children with MM who underwent burr hole surgery. METHODS: This study is a retrospective analysis of children who underwent surgery for MM in a national reference center for pediatric stroke between 1999 and 2015...
February 20, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28327889/hemodynamic-changes-after-unilateral-revascularization-for-moyamoya-disease-serial-assessment-by-quantitative-magnetic-resonance-angiography
#3
Tackeun Kim, Jae Seung Bang, O-Ki Kwon, Gyojun Hwang, Jeong Eun Kim, Hyun-Seung Kang, Won-Sang Cho, Cheolkyu Jung, Chang Wan Oh
BACKGROUND: Ultrasonic flow meters and quantitative magnetic resonance angiography quantitatively assess flow during hemodynamic evaluation of cerebral ischemia. Although their reliability and reproducibility have been verified, their clinical impact in moyamoya disease has rarely been reported. OBJECTIVE: To investigate flow measurement outcomes in moyamoya disease patients pre- and postoperatively through a retrospective observational study. METHODS: We evaluated 41 patients undergoing their first revascularization surgery who were followed ≥6 mo...
January 2, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28325888/factors-associated-with-clinical-outcomes-in-patients-with-primary-intraventricular-hemorrhage
#4
Sang-Hoon Lee, Kyung-Jae Park, Dong-Hyuk Park, Shin-Hyuk Kang, Jung-Yul Park, Yong-Gu Chung
BACKGROUND Primary intraventricular hemorrhage (PIVH) is an uncommon type of intracerebral hemorrhage. Owing to its rarity, the clinical and radiological factors affecting outcomes in patients with PIVH have not been widely studied. MATERIAL AND METHODS We retrospectively reviewed 112 patients (mean age 53 years) treated for PIVH at our institution from January 2004 to December 2014. Clinical and radiological parameters were analyzed 3 months after initial presentation to identify factors associated with clinical outcomes, as assessed by the Glasgow Outcome Scale (favorable ≥4, unfavorable <4)...
March 22, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28320162/rnf213-rs112735431-polymorphism-in-intracranial-artery-steno-occlusive-disease-and-moyamoya-disease-in-koreans
#5
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
#6
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
#7
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
#8
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
#9
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/28281383/meandering-flow-void-around-the-splenium-in-moyamoya-disease
#10
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
#11
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/28276505/alternative-exon-skipping-biases-substrate-preference-of-the-deubiquitylase-usp15-for-mysterin-rnf213-the-moyamoya-disease-susceptibility-factor
#12
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
#13
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
#14
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
#15
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
#16
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/28221195/brain-perfusion-before-and-after-surgical-treatment-of-moyamoya-disease
#17
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
#18
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
#19
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/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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