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Moyamoya disease and syndrome

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https://www.readbyqxmd.com/read/28431773/atypical-moyamoya-syndrome-with-brain-calcification-and-stenosis-of-abdominal-aorta-and-renal-arteries
#1
Hideki Uchikawa, Katsunori Fujii, Mayuko Fujita, Tomoko Okunushi, Naoki Shimojo
Moyamoya syndrome is a progressive cerebrovascular disease that is characterized by stenosis of the terminal portion of the internal carotid artery and its main branches, in combination with an accompanying disease. We herein describe an 8-year-old boy exhibiting transient loss of consciousness, who had recurrent seizures in infancy with progressive brain calcification. On admission, he was alert but magnetic resonance angiography showed bilateral stenosis of the whole internal carotid artery and proliferation of vascular collaterals, and brain CT revealed calcification on bilateral putamen...
April 18, 2017: Brain & Development
https://www.readbyqxmd.com/read/28357585/uneven-cerebral-hemodynamic-change-as-a-cause-of-neurological-deterioration-in-the-acute-stage-after-direct-revascularization-for-moyamoya-disease-cerebral-hyperperfusion-and-remote-ischemia-caused-by-the-watershed-shift
#2
Xian-Kun Tu, Miki Fujimura, Sherif Rashad, Shunji Mugikura, Hiroyuki Sakata, Kuniyasu Niizuma, Teiji Tominaga
Superficial temporal artery-middle cerebral artery (STA-MCA) anastomosis is the standard surgical treatment for moyamoya disease (MMD). The main potential complications of this treatment are cerebral hyperperfusion (CHP) syndrome and ischemia, and their managements are contradictory to each other. We retrospectively investigated the incidence of the simultaneous manifestation of CHP and infarction after surgery for MMD. Of the 162 consecutive direct revascularization surgeries performed for MMD, we encountered two adult cases (1...
March 29, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28343148/de-novo-mutations-in-cbl-causing-early-onset-paediatric-moyamoya-angiopathy
#3
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/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/28240586/moyamoya-disease-and-systemic-sclerosis-mosys-syndrome-a-combination-of-two-rare-entities-comment-to-the-authors
#5
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
#6
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
#7
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...
April 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28175446/198%C3%A2-effectiveness-of-surgical-revascularization-for-stroke-prevention-in-pediatric-patients-with-sickle-cell-disease-and-moyamoya-syndrome
#8
Wuyang Yang, Jose Luis Porras, Risheng Xu, Tomas Garzon-Muvdi, Justin M Caplan, Geoffrey P Colby, Alexander Lewis Coon, Rafael J Tamargo, Judy Huang, Edward Sanghoon Ahn
No abstract text is available yet for this article.
August 1, 2016: Neurosurgery
https://www.readbyqxmd.com/read/28157751/inherited-and-uncommon-causes-of-stroke
#9
Jennifer Juhl Majersik
PURPOSE OF REVIEW: This article is a practical guide to identifying uncommon causes of stroke and offers guidance for evaluation and management, even when large controlled trials are lacking in these rarer forms of stroke. RECENT FINDINGS: Fabry disease causes early-onset stroke, particularly of the vertebrobasilar system; enzyme replacement therapy should be considered in affected patients. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), often misdiagnosed as multiple sclerosis, causes migraines, early-onset lacunar strokes, and dementia...
February 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28153617/the-susceptibility-pathogenesis-of-the-moyamoya-disease
#10
Juntao Hu, Jie Luo, Qianxue Chen
Moyamoya disease (MMD) is a cerebrovascular disease characterized by progressive stenosis of the intracranial internal carotid arteries and their proximal branches. Epidemiologically, MMD is more prevalent in east Asia than any region worldwide, which have been estimated at 0.94 per 100 000 in Japanese and 0.43 per 100,000 in Chinese.However, the etiology of this rare disease remains unknown. 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...
January 30, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28070115/proposal-for-a-prospective-registry-for-moyamoya-disease-in-japan
#11
Ken Kazumata, Masaki Ito, Haruto Uchino, Hiroshi Nishihara, Kiyohiro Houkin
The number of clinical research papers published worldwide on moyamoya disease (MMD) has increased recently. However, the majority of the literature comprises retrospective single-center studies collecting data on small numbers of patients. Several multi-center studies are ongoing in Japan; however, the current data are insufficient for comprehensively outlining the various characteristics of MMD. To enhance our knowledge on epidemiologic, vascular, and genetic aspects of MMD, a prospective multicenter registry will be established in Japan that will help to streamline clinical research as well as improve clinical treatments and long-term outcomes...
February 15, 2017: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/28033272/intraoperative-dexmedetomidine-and-postoperative-cerebral-hyperperfusion-syndrome-in-patients-who-underwent-superficial-temporal-artery-middle-cerebral-artery-anastomosis-for-moyamoya-disease-a-retrospective-observational-study
#12
Hyungseok Seo, Ho-Geol Ryu, Je Do Son, Jeong-Soo Kim, Eun Jin Ha, Jeong-Eun Kim, Hee-Pyoung Park
Dexmedetomidine, a selective α2-agonist, reduces cerebral blood flow and has neuroprotective effects against cerebral ischemia/reperfusion injury in experimental animals. We examined whether intraoperative dexmedetomidine would reduce the incidence of postoperative cerebral hyperperfusion syndrome (CHS) after superficial temporal artery-middle cerebral artery (STA-MCA) anastomosis in patients with moyamoya disease.The electronic medical records of 117 moyamoya patients who underwent STA-MCA anastomosis were reviewed retrospectively...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27960175/moyamoya-disease
#13
REVIEW
Miki Fujimura, Oh Young Bang, Jong S Kim
Moyamoya disease (MMD) is a chronic occlusive cerebrovascular disease characterized by 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 unknown, recent genetic studies have identified RNF213 in the 17q25-ter region as an important susceptibility gene of MMD among East Asian populations. A c.14576G>A polymorphism in RNF213 was identified in 95% of MMD patients with a family history and in 79% of sporadic cases, and patients carrying this polymorphism exhibited significantly earlier disease onset and a more-severe form of MMD...
2016: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/27960158/risk-factors
#14
REVIEW
T Uehara, O Y Bang, J S Kim, K Minematsu, R Sacco
Studies investigating risk factors for intracranial atherosclerosis (ICAS) have been infrequent. However, due to recent availability of non-invasive vascular imaging techniques that can assess intracranial cerebral arteries, there are a growing number of studies on risk factors for ICAS. Conventional vascular risk factors such as hypertension, diabetes, hypercholesterolemia and cigarette smoking are risk factors for ICAS. However, it remains uncertain whether there is a difference in risk factors between ICAS and extracranial atherosclerosis (ECAS)...
2016: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/27934593/establishment-of-induced-pluripotent-stem-cell-ipsc-line-from-an-8-year-old-female-patient-with-ischemic-moyamoya-disease
#15
Marina Cardano, Fabio Marsoner, Jacopo Zasso, Matteo Marcatili, Thodoris Karnavas, Luigi Andrea Lanterna, Luciano Conti
Peripheral blood mononuclear cells (PBMCs) were collected from an 8-year old female patient affected by ischemic Moyamoya disease (MMD). Patient's PBMCs were reprogrammed using Sendai virus particles delivering the four Yamanaka factors. The footprint free hiPSC line expressed the major pluripotency markers and exhibited a normal karyotype. Cells were competent to give rise to progeny of differentiated cells belonging to the 3 germ layers. This hiPSC line represents a good tool to in vitro model MMD in order to shed light on the cellular and molecular mechanisms responsible for the occurrence of this syndrome...
November 5, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27876659/surgical-treatment-for-patients-with-moyamoya-syndrome-and-type-1-neurofibromatosis
#16
Jose L Porras, Wuyang Yang, Tomas Garzon-Muvdi, Risheng Xu, Jaishri Blakeley, Allan Belzberg, Justin M Caplan, Syed Khalid, Geoffrey P Colby, Alexander L Coon, Rafael J Tamargo, Edward S Ahn, Judy Huang
INTRODUCTION: The current study describes the impact of surgery in preventing follow-up ipsilateral transient ischemic attacks (TIAs)/strokes in an East Coast North American cohort of patients with both moyamoya syndrome (MMS) and neurofibromatosis type 1 (NF1) (MMS-NF1). METHODS: We retrospectively reviewed records of patients with MMS and NF1 at the Johns Hopkins Medical Institutions from 1990-2014. Baseline characteristics and follow-up results including subsequent ipsilateral strokes were collected and compared between a revascularization group (group 1) and a conservatively managed group (group 2) on a per-hemisphere basis...
March 2017: World Neurosurgery
https://www.readbyqxmd.com/read/27857839/fatal-outcome-in-a-hispanic-woman-with-moyamoya-syndrome-and-graves-disease
#17
Julian Choi, Perin Suthakar, Farbod Farmand
We describe the case of a young Hispanic female who presented with thyrotoxicosis with seizures and ischemic stroke. She was diagnosed with a rare vasculopathy - moyamoya syndrome. After starting antithyroid therapy, her neurologic symptoms did not improve. Acute neurosurgical intervention had relieved her symptoms in the immediate post-operative period after re-anastomosis surgery. However, 2 post-operative days later, she was found to be in status epilepticus and in hyperthyroid state. She quickly deteriorated clinically and had expired a few days afterward...
2016: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/27853035/dystonia-myoclonus-and-encephalopathy-in-a-single-patient-a-rare-association-of-moyamoya
#18
Ujjawal Roy, Urmila Das, Ajay Panwar, Prabhat Kumar Lal
Moyamoya disease (MMD) is a rare neurovascular disorder which pathologically, is a chronic cerebrovasculopathy. It is characterized by stenosis of the internal carotid artery (ICA) and the main branches within the circle of Willis with consecutive development of collateral vessels. There are a few cases in the literature which have described movement disorders as a manifestation of MMD; however these have been uncommonly reported in cases of moyamoya syndrome (MMS). We present a 10-year-old boy with dystonia, myoclonus and encephalopathy like features...
October 2016: Annals of African Medicine
https://www.readbyqxmd.com/read/27843469/moyamoya-syndrome-associated-with-henoch-sch%C3%A3-nlein-purpura
#19
Reza Shiari, Seyed Mohamad Hossein Tabatabaei Nodushan, Mohamad Mahdi Mohebbi, Parvaneh Karimzadeh, Mohsen Javadzadeh
Some reports have shown the association between Moyamoya syndrome and autoimmune diseases. Herewith, we present a 3.5 yr old girl with Henoch- Schönleinpurpura (HSP) who was treated with steroids because of sever colicky abdominal pain. However, central nervous system manifestations such as headache, ataxia and vision impairment developed during 6 months of her outpatient follow-up. More evaluation using MRA revealed intracranial stenosis of internal carotid artery and arterial collaterals that were in favor of Moyamoya syndrome...
2016: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/27836652/intracranial-vessel-wall-imaging-for-evaluation-of-steno-occlusive-diseases-and-intracranial-aneurysms
#20
REVIEW
Waleed Brinjikji, Mahmud Mossa-Basha, John Huston, Alejandro A Rabinstein, Giuseppe Lanzino, Vance T Lehman
Cerebrovascular diseases have traditionally been classified, diagnosed and managed based on their luminal characteristics. However, over the past several years, several advancements in MRI techniques have ushered in high-resolution vessel wall imaging (HR-VWI), enabling evaluation of intracranial vessel wall pathology. These advancements now allow us to differentiate diseases which have a common angiographic appearance but vastly different natural histories (i.e. moyamoya versus atherosclerosis, reversible cerebral vasoconstriction syndrome versus vasculitis, stable versus unstable intracranial aneurysms)...
March 2017: Journal of Neuroradiology. Journal de Neuroradiologie
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