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Moyamoya disease

Yong-Gang Ma, Qian Zhang, Le-Bao Yu, Ji-Zong Zhao
OBJECTIVE: The aim of this study was to help people comprehensively understand the research advances related to ring finger protein 213 (RNF213) in moyamoya disease (MMD) and to understand the disease at the molecular level to provide a new perspective of the diagnosis of the disease. DATA SOURCES: This review was based on data in articles published between 2005 and 2015 that were retrieved from the PubMed database. The search terms included RNF213, MMD, intracranial major artery stenosis /occlusion (ICASO), genotype, phenotype, mutant and variants, and the combinations of these terms...
2016: Chinese Medical Journal
Sirui Zhou, Amirthagowri Ambalavanan, Daniel Rochefort, Pingxing Xie, Cynthia V Bourassa, Pascale Hince, Alexandre Dionne-Laporte, Dan Spiegelman, Ziv Gan-Or, Cathy Mirarchi, Vessela Zaharieva, Nicolas Dupré, Hatasu Kobayashi, Toshiaki Hitomi, Kouji Harada, Akio Koizumi, Lan Xiong, Patrick A Dion, Guy A Rouleau
Intracranial aneurysms (IAs) are the result of focal weakness in the artery wall and have a complex genetic makeup. To date, genome-wide association and sequencing studies have had limited success in identifying IA risk factors. Distinct populations, such as the French-Canadian (FC) population, have increased IA prevalence. In our study, we used exome sequencing to prioritize risk variants in a discovery cohort of six FC families affected by IA, and the analysis revealed an increased variation burden for ring finger protein 213 (RNF213)...
September 30, 2016: American Journal of Human Genetics
Yeongu Chung, Sung Ho Lee, Seok Keun Choi
BACKGROUND: Superficial temporal artery (STA) to middle cerebral artery (MCA) bypass is associated with several surgical problems. Despite the vascular patency and hemodynamic changes after the anastomosis, wound problems can be a major surgical complication. METHODS: In a review of 41 surgical cases of STA-MCA bypass for moyamoya disease or cerebral occlusive vascular diseases, we compared the conventional ("Out-to-In") dissection method for STA (n=23) with the "In-to-Out" (ITO) dissection method (n=18) and evaluated the surgical results with respect to wound problems...
October 11, 2016: World Neurosurgery
Hatasu Kobayashi, Miroslav Brozman, Kateřina Kyselová, Daša Viszlayová, Takaaki Morimoto, Martin Roubec, David Školoudík, Andrea Petrovičová, Dominik Juskanič, Jozef Strauss, Marián Halaj, Peter Kurray, Marián Hranai, Kouji H Harada, Sumiko Inoue, Yukako Yoshida, Toshiyuki Habu, Roman Herzig, Shohab Youssefian, Akio Koizumi
RNF213/Mysterin has been identified as a susceptibility gene for moyamoya disease, a cerebrovascular disease characterized by occlusive lesions in the circle of Willis. The p.R4810K (rs112735431) variant is a founder polymorphism that is strongly associated with moyamoya disease in East Asia. Many non-p.R4810K rare variants of RNF213 have been identified in white moyamoya disease patients, although the ethnic mutations have not been investigated in this population. In the present study, we screened for RNF213 variants in 19 Slovakian and Czech moyamoya disease patients...
2016: PloS One
Junya Hatakeyama, Toshiharu Yanagisawa, Erina Kudo, Shuntaro Togashi, Hiroaki Shimizu
Progressive cerebral infarction in patients with hemorrhagic onset of moyamoya disease is rare, and a treatment strategy is not well established. Here, we report a case that was successfully treated with emergency bypass surgery. A 58-year-old woman presented with a sudden disturbance of consciousness and right-sided hemiparesis. Computed tomography(CT)showed intraventricular hemorrhage involving the head of the left caudate nucleus. Ventricular drainage was immediately performed, and the patient was treated conservatively...
October 2016: No Shinkei Geka. Neurological Surgery
Saya Ozaki, Akihiro Inoue, Hajime Miyazaki, Shinji Onoue, Haruhisa Ichikawa, Shinya Fukumoto, Shinji Iwata, Shirou Ohue, Kanehisa Kohno
BACKGROUND AND PURPOSE: The long-term outcome of patients with adult moyamoya disease following revascularization surgery remains unclear. Here, we investigated these outcomes more than five years after revascularization surgery. PATIENTS AND METHODS: This study included 48 cerebral hemispheres from 26 patients who underwent revascularization surgery for adult moyamoya disease. The mean follow-up duration was 14.3(5.5-25.6)years. The risk factors of late-onset hemorrhage after revascularization surgery were compared between the bleeding and non-bleeding groups...
October 2016: No Shinkei Geka. Neurological Surgery
Maki Mukawa, Tadashi Nariai, Hideaki Onda, Taku Yoneyama, Yasuo Aihara, Kengo Hirota, Takumi Kudo, Kazutaka Sumita, Taketoshi Maehara, Takakazu Kawamata, Hidetoshi Kasuya, Hiroyuki Akagawa
The etiology of Moyamoya disease (MMD) is still largely unclear, despite identification of RNF213 as the most significant susceptibility gene in East Asian patients. Following up our previous study confirming genetic heterogeneity in Japanese patients with MMD, we extensively surveyed novel candidate genes for a new perspective on the etiology of this disease. Two characteristic pedigrees without susceptibility variants in RNF213 were selected for whole-exome sequencing; 1 harbored 3 affected members, and the other included discordant monozygotic twins...
October 4, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Hyun Gi Kim, Seung-Koo Lee, Jung-Dong Lee
OBJECTIVE Young patients with moyamoya disease can exhibit infarction after revascularization surgery. This analysis of the characteristics of infarction after encephaloduroarteriosynangiosis (EDAS) in young patients with moyamoya disease was undertaken in an effort to elucidate the infarction mechanism. METHODS The authors retrospectively collected clinical information and reviewed pre- and postoperative MRI studies from cases involving patients younger than 18 years who underwent EDAS for the treatment of moyamoya disease between January 2012 and February 2015...
October 7, 2016: Journal of Neurosurgery. Pediatrics
Peiying Liu, Babu G Welch, Yang Li, Hong Gu, Darlene King, Yihong Yang, Marco Pinho, Hanzhang Lu
Diagnosis and treatment monitoring of cerebrovascular diseases routinely require hemodynamic imaging of the brain. Current methods either only provide part of the desired information or require the injection of multiple exogenous agents. In this study, we developed a multiparametric imaging scheme for the imaging of brain hemodynamics and function using gas-inhalation MRI. The proposed technique uses a single MRI scan to provide simultaneous measurements of baseline venous cerebral blood volume (vCBV), cerebrovascular reactivity (CVR), bolus arrival time (BAT), and resting-state functional connectivity (fcMRI)...
September 28, 2016: NeuroImage
Shuji Hamauchi, Hideo Shichinohe, Haruto Uchino, Shigeru Yamaguchi, Naoki Nakayama, Ken Kazumata, Toshiya Osanai, Takeo Abumiya, Kiyohiro Houkin, Takumi Era
BACKGROUND AND PURPOSE: Moyamoya disease (MMD) is a slow, progressive steno-occlusive disease, arising in the terminal portions of the cerebral internal carotid artery. However, the functions and characteristics of the endothelial cells (ECs) in MMD are unknown. We analyzed these features using induced pluripotent stem cell (iPSC)-derived ECs. METHODS: iPSC lines were established from the peripheral blood of three patients with MMD carrying the variant RNF213 R4810K, and three healthy persons used as controls...
2016: PloS One
Qian Zhang, Rong Wang, Yaping Liu, Yan Zhang, Shuo Wang, Yong Cao, Yuanli Zhao, Xingju Liu, Jia Wang, Xiaofeng Deng, Faliang Gao, Ziwen Yang, Meng Zhao, Peicong Ge, Yonggang Ma, Jizong Zhao, Dong Zhang
OBJECTIVE: To elucidate the clinical features, risk factors for contralateral progression, and long-term outcomes of patients with unilateral moyamoya disease (MMD). METHODS: We retrospectively reviewed 109 patients with unilateral MMD treated at Beijing Tiantan Hospital. The clinical features, radiological findings and outcomes were analyzed. RESULTS: The mean age at diagnosis was 30.8±14.2 years with a one-peak distribution in the thirties...
September 16, 2016: World Neurosurgery
Shin-Joe Yeh, Sung-Chun Tang, Li-Kai Tsai, Ya-Fang Chen, Hon-Man Liu, Ying-An Chen, Yu-Lin Hsieh, Shih-Hung Yang, Yu-Hsuan Tien, Chi-Cheng Yang, Meng-Fai Kuo, Jiann-Shing Jeng
The marked cerebral hypoperfusion of moyamoya disease (MMD) can be treated with encephaloduroarteriosynangiosis (EDAS), an indirect revascularization surgery. Collateral establishment after the surgery is a gradual process; thus, easy access to serial assessment is of great importance. We prospectively recruited 15 pediatric moyamoya patients who underwent EDAS surgeries on a total of 19 hemispheres. Ultrasonography of extracranial and intracranial arteries was performed pre-operatively and post-operatively at 1, 3 and 6 mo...
September 14, 2016: Ultrasound in Medicine & Biology
M L P Portegies, P J Koudstaal, M A Ikram
With 16.9 million people who suffered a first-ever stroke in 2010 worldwide, stroke is a very common vascular disease. Epidemiologic studies have played an essential role in assessing this burden and in detecting the risk factors for stroke. Primary prevention of these risk factors, primarily hypertension, smoking, diabetes, and atrial fibrillation, has reduced the incidence in high-income countries. However, stroke remains a major cause of death and disability, and therefore research should be continued. Subarachnoid hemorrhages are less prevalent than strokes but have an even higher risk of death...
2016: Handbook of Clinical Neurology
Luigi A Lanterna, Carlo Brembilla, Paolo Gritti, Claudio Bernucci
BACKGROUND: Moyamoya (MM) is a very rare cerebrovascular disease, particularly in Caucasians. We describe the results of an Italian case series where the mainstay of treatment was a bypass or a combined approach. METHODS: An analysis of a prospectively collected database was carried out. The main objective was to investigate (1) the risk of perioperative stroke and surgical complications, (2) the risk of new ischemic events, and (3) the risk of new hemorrhages at follow-up (mean follow-up: 2...
2016: Acta Neurochirurgica. Supplement
Hiroshi Abe, Toshiro Katsuta, Koichi Miki, Toshio Higashi, Tooru Inoue
BACKGROUND: Superficial temporal artery (STA) to middle cerebral artery (MCA) bypass is one of the most common surgical procedures performed for direct extracranial (EC) to intracranial (IC) bypasses. We describe a temporary steno-occlusive change in the STA that was caused by mouth opening after the STA-MCA bypass (so-called big bite ischemic phenomenon) in an adult patient with moyamoya disease. The aim of this study was to assess the incidence of this phenomenon in patients with atherosclerosis...
2016: Acta Neurochirurgica. Supplement
Jyoji Nakagawara
Hemodynamic cerebral ischemia has been conceptually confirmed by positron emission tomography (PET) imaging, and misery perfusion could be compensated with both vascular and metabolic reserve; however, these compensatory reserve capacities do not always respond in the same manner from short-term to long-term compromise of hemodynamic cerebral ischemia.In patients with acute misery perfusion, CMRO2 is immediately compensated by a marked increase of OEF combined with a limited increase of CBV. In patients with chronic misery perfusion, a moderate increase of OEF is compatible with a moderate increase of CBV, which could correlate with a moderate decrease of vascular reserve (VR)...
2016: Acta Neurochirurgica. Supplement
Marika Saarela, Satu Mustanoja, Johanna Pekkola, Tiina Tyni, Juha Hernesniemi, Leena Kivipelto, Turgut Tatlisumak
BACKGROUND AND PURPOSE: Moyamoya vasculopathy, a rare steno-occlusive progressive cerebrovascular disorder, has not been thoroughly studied in Caucasian populations. We established a registry of Finnish patients treated at the Helsinki University Hospital, to collect and report demographic and clinical data. METHODS: We collected data both retrospectively and prospectively from all the patients with a moyamoya vasculopathy referred to our hospital between January 1987 and December 2014...
September 13, 2016: International Journal of Stroke: Official Journal of the International Stroke Society
Mario Teo, Jeremiah N Johnson, Teresa E Bell-Stephens, Michael P Marks, Huy M Do, Robert L Dodd, Michael B Bober, Gary K Steinberg
OBJECTIVE Majewski osteodysplastic primordial dwarfism Type II (MOPD II) is a rare genetic disorder. Features of it include extremely small stature, severe microcephaly, and normal or near-normal intelligence. Previous studies have found that more than 50% of patients with MOPD II have intracranial vascular anomalies, but few successful surgical revascularization or aneurysm-clipping cases have been reported because of the diminutive arteries and narrow surgical corridors in these patients. Here, the authors report on a large series of patients with MOPD II who underwent surgery for an intracranial vascular anomaly...
September 9, 2016: Journal of Neurosurgery. Pediatrics
Franz Wegner, Ulf Mueller-Ladner, Florian M P Meier
September 2016: Clinical and Experimental Rheumatology
Suresh Kumar, Sudhir Sharma, Anupam Jhobta, Ram Gopal Sood
Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by idiopathic occlusion of bilateral internal carotid arteries and the development of characteristic leptomeningeal collateral vessels along anterior or posterior circulation. We present an unusual case of MMD presenting with generalized dystonia as the predominant manifestation.
April 2016: Journal of Pediatric Neurosciences
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