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BACKGROUND AND OBJECTIVES: Posterior cerebral artery involvement (PCAi) has been identified as an important factor related to poor prognosis in moyamoya disease (MMD). This study summarized the characteristics of children with MMD and PCAi, clarified the clinical course, identified prognostic predictors, and investigated the long-term effect of encephaloduroarteriosynangiosis for posterior circulation (EDAS-p). METHODS: We retrospectively reviewed all our pediatric MMD cases with follow-up angiograms from November 2003 to December 2016. PCAi was classified as early-onset at initial diagnosis and delayed-onset after anterior circulation revascularization. Multivariable data including clinical features, radiographic findings, and surgical outcomes were analyzed. RESULTS: Among 570 children with MMD, 246 (43.2%) had PCAi, with 176 (30.9%) classified as early-onset PCAi. During a median follow-up period of 10 years, 17.8% (70/394) of patients without initial PCAi developed delayed-onset PCAi. The median time to detection of a new PCA lesion was 15.5 (range 7-110) months from initial diagnosis, with a median age of 10.5 (3-22). Younger age at onset, familial occurrence, advanced Suzuki stages, and preoperative infarctions were predictors of delayed-onset PCAi. EDAS-p was performed on 294 hemispheres of 195 patients with PCAi. Stroke-free survival was significantly higher in the EDAS-p group than in the non-EDAS-p group (99.0% vs 90.2%; p < 0.001 [Breslow test]; p = 0.001 [log-rank test]; median follow-up: 101 months). DISCUSSION: PCAi is not uncommon in children with MMD, underscoring the need for long-term close clinical monitoring, especially in patients with high-risk factors for PCA progression. EDAS-p may be a safe and effective procedure for preventing subsequent stroke in children with MMD and PCAi.
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Enfermedad de Moyamoya , Arteria Cerebral Posterior , Humanos , Enfermedad de Moyamoya/diagnóstico por imagen , Enfermedad de Moyamoya/complicaciones , Enfermedad de Moyamoya/cirugía , Enfermedad de Moyamoya/terapia , Masculino , Niño , Femenino , Estudios Retrospectivos , Preescolar , Adolescente , Arteria Cerebral Posterior/diagnóstico por imagen , Resultado del Tratamiento , Revascularización Cerebral/métodos , Estudios de Seguimiento , Adulto Joven , Lactante , PronósticoRESUMEN
BACKGROUND: Recent advances are in the genetics, diagnosis, pathophysiology, and management of moyamoya disease (MMD), and moyamoya syndrome (MMS), a term used to describe moyamoya-like vasculopathy associated with various systemic diseases or conditions. SUMMARY: Ring finger protein (RNF213) has been reported to be a susceptibility gene not only for MMD but also for atherosclerotic intracranial arterial stenosis and ischemic stroke attributable to large artery atherosclerosis. The latest guidelines by the Research Committee on MMD of the Japanese Ministry of Health, Labor, and Welfare, removed limitations of the previous definition that required bilateral involvement of the intracranial carotid artery to make the diagnosis, given the increasing evidence of progression to bilateral involvement in unilateral MMD. 3-dimensional constructive interference in steady-state MRI is useful for the differential diagnosis of MMD from atherosclerosis. Recent advances in the pathophysiology of MMD suggest that genetic and environmental factors play important roles in vascular angiogenesis and remodeling via complex mechanisms. The latest Japanese Guidelines and American Scientific Statement described that antiplatelet therapy can be considered reasonable. Endovascular interventional stent placement fails to prevent ischemic events and does not halt MMD progression. In the Japan Adult Moyamoya trial, a randomized controlled trial for bilateral extracranial-intracranial direct bypass versus conservative therapy in patients with MMD, who had intracranial hemorrhage, recurrent bleeding, completed stroke, or crescendo transient ischemic attack was significantly fewer with direct bypass than with conservative care. KEY MESSAGES: This review presents updated information on genetics, diagnosis, pathophysiology, and treatment of adult MMD and MMS. Despite recent advances, many mysteries still exist in the etiologies of moyamoya vasculopathy. The diagnostic criteria and treatment guidelines have been updated but not yet been globally established. Ongoing and future studies investigating underlying pathophysiological mechanisms of MMD and MMS may clarify potentially effective medical, surgical, or endovascular treatments.
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Enfermedad de Moyamoya , Enfermedad de Moyamoya/terapia , Enfermedad de Moyamoya/diagnóstico por imagen , Enfermedad de Moyamoya/fisiopatología , Enfermedad de Moyamoya/genética , Humanos , Adulto , Factores de Riesgo , Predisposición Genética a la Enfermedad , Resultado del Tratamiento , Fenotipo , Revascularización Cerebral , Valor Predictivo de las Pruebas , Inhibidores de Agregación Plaquetaria/uso terapéutico , Procedimientos EndovascularesRESUMEN
BACKGROUND: Moyamoya disease (MMD) is characterized by progressive stenosis or occlusion of the terminal portions of the bilateral internal carotid arteries. A Japanese survey in 2003 reported an incidence and prevalence of MMD of 0.54 and 6.03 per 100,000 people, respectively, showing an upward trend over previous surveys. An update to these estimates is therefore warranted. Additionally, evidence is lacking on trends in revascularization and antiplatelet therapy in MMD patients. METHODS: We conducted a population-based descriptive study using a Japanese claims database. From fiscal year (FY) 2015 to 2019, we standardized the incidence and prevalence estimates of MMD to the 2015 Japanese census population by age and sex. We also estimated the 1-year cumulative incidence of revascularization among incident MMD patients and the proportion of prevalent MMD patients receiving antiplatelet therapy in each FY. RESULTS: The age-standardized male-to-female ratio of both incident and prevalent MMD patients was approximately 1:2. Standardized incidence and prevalence of MMD per 100,000 population increased slightly from 1.8 to 2.4 and 14.7 to 17.6, respectively. The 1-year cumulative incidence of revascularization among incident MMD patients varied between 21.9 % and 28.9 %. Among prevalent MMD patients, 36.6 % to 39.0 % received antiplatelet therapy. CONCLUSIONS: The incidence and prevalence of MMD in Japan from FY 2015 to 2019 were higher than those estimated in 2003. The trends in revascularization and antiplatelet therapy identified in this study will be useful in further improving the quality of MMD clinical practice.
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Bases de Datos Factuales , Enfermedad de Moyamoya , Inhibidores de Agregación Plaquetaria , Humanos , Enfermedad de Moyamoya/epidemiología , Enfermedad de Moyamoya/terapia , Enfermedad de Moyamoya/diagnóstico , Enfermedad de Moyamoya/cirugía , Japón/epidemiología , Femenino , Masculino , Incidencia , Prevalencia , Adulto , Persona de Mediana Edad , Niño , Adolescente , Adulto Joven , Inhibidores de Agregación Plaquetaria/uso terapéutico , Preescolar , Factores de Tiempo , Anciano , Lactante , Resultado del Tratamiento , Revascularización Cerebral/tendencias , Recién Nacido , Distribución por Edad , Distribución por SexoAsunto(s)
Enfermedades Autoinmunes del Sistema Nervioso , Enfermedad de Moyamoya , Malformaciones del Sistema Nervioso , Enfermedades Vasculares , Humanos , Enfermedades Autoinmunes del Sistema Nervioso/terapia , Enfermedad de Moyamoya/complicaciones , Enfermedad de Moyamoya/diagnóstico por imagen , Enfermedad de Moyamoya/terapia , InmunoterapiaRESUMEN
BACKGROUND: Disease-specific interventions for management and health behavior implementation are needed to improve the health and quality of life of adolescents with moyamoya disease. OBJECTIVE: This study aimed to develop a program for adolescents with moyamoya disease based on the salutogenesis theory, which focuses on the process of enhancing health through successful adaptation to external stressors, and to evaluate its effectiveness. METHODS: A randomized controlled trial was performed according to the CONSORT guidelines. This preliminary research and experimental treatment were conducted at a Severance Hospital ward and outpatient clinic among 48 participants randomized into the intervention (seven sessions of salutogenesis program, n = 24) or the control group (one session of one-to-one moyamoya disease education program, n = 24) from September 6, 2018 to January 4, 2019. Changes in the following study outcomes were reported: "knowledge of moyamoya disease," "social support," "sense of coherence," "moyamoya disease health behavior," "stress," "depression," "subjective health status," "frequency of ischemic symptoms," and "quality of life". RESULTS: The salutogenesis program improved the knowledge and social support of adolescents with illness-related problems and helped them attain healthy behaviors and stress reduction. It was confirmed to be effective in improving their quality of life. CONCLUSIONS: The salutogenesis program for adolescents with moyamoya disease effectively improved the generalized resistance resources and sense of coherence in adolescents with moyamoya disease. TRIAL REGISTRATION: Korean Clinical Research Information Service registry, KCT0006869.
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Enfermedad de Moyamoya , Sentido de Coherencia , Humanos , Adolescente , Calidad de Vida , Enfermedad de Moyamoya/terapia , Conductas Relacionadas con la SaludRESUMEN
Adult moyamoya disease and syndrome are rare disorders with significant morbidity and mortality. A writing group of experts was selected to conduct a literature search, summarize the current knowledge on the topic, and provide a road map for future investigation. The document presents an update in the definitions of moyamoya disease and syndrome, modern methods for diagnosis, and updated information on pathophysiology, epidemiology, and both medical and surgical treatment. Despite recent advancements, there are still many unresolved questions about moyamoya disease and syndrome, including lack of unified diagnostic criteria, reliable biomarkers, better understanding of the underlying pathophysiology, and stronger evidence for treatment guidelines. To advance progress in this area, it is crucial to acknowledge the limitations and weaknesses of current studies and explore new approaches, which are outlined in this scientific statement for future research strategies.
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Enfermedad de Moyamoya , Accidente Cerebrovascular , Estados Unidos/epidemiología , Humanos , Adulto , American Heart Association , Enfermedad de Moyamoya/diagnóstico , Enfermedad de Moyamoya/epidemiología , Enfermedad de Moyamoya/terapia , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/terapia , Accidente Cerebrovascular/epidemiologíaRESUMEN
PURPOSE: Moyamoya disease (MMD) is a rare disease which has a high incidence of onset in adolescence. Disease self-management skills are imperative for adolescents with MMD. This study aimed to describe the systematic development, content, and usability of the Moyamoya Healthy Youth application (app), which was developed to enhance self-management skills for adolescents with MMD. DESIGN AND METHODS: The theoretical grounding for the app was salutogenic model and the development process of the app was guided by the intervention mapping (IM) protocol. Results of each IM step were applied to the next step leading to the design of the app. Additionally, a pilot test was conducted to determine the usability of the app. RESULTS: Following the salutogenic model, we identified the stressors, behaviors, and resources regarding managing symptoms of MMD by interviewing adolescents with MMD, their parents, and healthcare providers. Based on the findings of the interviews, we determined the program outcomes and performance objectives to improve the self-management of MMD in adolescents. The app was developed by translating the theoretical methods to achieve the performance objectives into practical strategies for delivering the program. A pilot test with eight participants showed satisfaction with the app in terms of its usefulness and ease of use. CONCLUSION: We delineated the development process of the Moyamoya Healthy Youth. Additionally, we presented the positive outcomes regarding the usability of the app. PRACTICE IMPLICATIONS: The Moyamoya Healthy Youth app could benefit adolescents with MMD, by improving their self-management skills which are crucial for their health.
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Aplicaciones Móviles , Enfermedad de Moyamoya , Automanejo , Humanos , Adolescente , Enfermedad de Moyamoya/terapia , Enfermedad de Moyamoya/epidemiología , Estado de SaludRESUMEN
The effect and safety of endovascular treatment of basilar tip aneurysms associated with moyamoya disease are unknown. This study was to investigate the safety and effect of endovascular treatment of basilar tip aneurysms associated with moyamoya disease. Patients with moyamoya disease concurrent with basilar tip aneurysms were retrospectively enrolled and treated with endovascular embolization. The clinical and angiographic data were analyzed. Thirty patients with a basilar tip aneurysm were enrolled, including 8 (26.67%) male and 22 (73.33%) female patients aged 38 to 72 years (mean 54.4 ± 8.15). Endovascular treatment was successfully performed in 29 (96.67%) patients but failed in 1 (3.33%). Immediately after embolization, aneurysm occlusion degree was Raymond-Roy grade I in 26 (89.66%), grade II in 2 (6.90%), and grade III in 1 (3.45%). Intraprocedural complications occurred in 2 (10%) patients, including aneurysm rupture in 1 (3.33%), leading to death of the patient, and stent thrombosis in 2 (6.67%) which was successfully treated with thrombolysis. At discharge, good clinical outcome (modified Rankin Scale 0-2) was achieved in 29 (96.67%) and death in 1 (3.03%). Follow-up was performed 6 to 26 months (median 15) in 27 (93.1%) patients. Aneurysm occlusion degree was Raymond-Roy grade I in 21 (77.78%) patients, grade II in 4 (14.81%), and grade III in 2 (7.41%), not significantly (P = .67) different from those immediately after embolization. Aneurysm recurrence was found in 4 patients (14.81%). The clinical outcome was modified Rankin Scale 0 to 2 in all 27 patients, not significantly different from that at discharge. Endovascular embolization can be performed safely and effectively for basilar tip aneurysms associated with moyamoya disease even though more advanced embolization techniques are necessary.
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Embolización Terapéutica , Procedimientos Endovasculares , Aneurisma Intracraneal , Enfermedad de Moyamoya , Humanos , Masculino , Femenino , Resultado del Tratamiento , Estudios Retrospectivos , Aneurisma Intracraneal/terapia , Aneurisma Intracraneal/complicaciones , Enfermedad de Moyamoya/complicaciones , Enfermedad de Moyamoya/terapia , Embolización Terapéutica/efectos adversos , Embolización Terapéutica/métodos , Angiografía Cerebral/métodos , Procedimientos Endovasculares/efectos adversos , Procedimientos Endovasculares/métodos , StentsRESUMEN
Moyamoya disease (MMD) is a chronic steno-occlusion cerebrovascular disease accompanied by the formation of the abnormal vascular network at the base of the brain. The etiology of MMD is not fully clarified. Lack of pathological specimens hinders the research progress. Induced pluripotent stem cells (iPSC) derived from patients with outstanding differentiation potential and infinite proliferation ability could conquer the problem of insufficient samples. The technology of iPSC holds the promise of clarifying the underlying molecular mechanism in the development of MMD. In this review, we summarized the latest progress and difficulties in the research of mechanism and detailed the application of iPSC in MMD, aiming to provide an outlook of iPSC in molecular mechanism and novel therapies of MMD.
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Células Madre Pluripotentes Inducidas , Enfermedad de Moyamoya , Humanos , Enfermedad de Moyamoya/terapia , Enfermedad de Moyamoya/patología , Diferenciación Celular , EncéfaloRESUMEN
BACKGROUND: Childhood moyamoya disease (MMD) can lead to progressive and irreversible neurological impairment. Early age at onset is likely associated with a worst prognosis of the disease. The study aims to summarize the clinical characteristics of childhood MMD for supporting the diagnosis and treatment of early MMD. METHODS: A retrospective study was conducted on children aged zero to 16 years who were diagnosed with MMD in the Department of Neurology and neurosurgery of our hospital from October 2016 to April 2020. The clinical characteristics of children with MMD were summarized for analysis, and the distribution of sex and initial attack type among different age groups was determined by data comparison. RESULTS: The study surveyed 114 children (male to female sex ratio of 1:1.07) with MMD, and 6.1% of them had family history. The mean age of onset was 7.15 ± 3.30 years, and the peak age of onset was five to eight years. The most common initial attack type was transient ischemic attack (TIA) (62 cases, 54.4%) with limb weakness. The incidence of the initial attack type in the three age groups was varied (P < 0.05). The result of overall prognosis was good in 86 cases (89.6%). CONCLUSIONS: In this study, MMD cases were mainly ischemic type and TIA was the most common initial attack type. Infant group was more prone to have cerebral infarction, whereas preschool and school-age groups tended to have TIA. The treatments and prognosis of the studied MMD cases were achieved with good outcomes.
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Ataque Isquémico Transitorio , Enfermedad de Moyamoya , Niño , Lactante , Humanos , Masculino , Preescolar , Femenino , Estudios Retrospectivos , Ataque Isquémico Transitorio/complicaciones , Enfermedad de Moyamoya/diagnóstico , Enfermedad de Moyamoya/epidemiología , Enfermedad de Moyamoya/terapia , Infarto Cerebral/complicacionesRESUMEN
Moyamoya disease is a medical condition that shows the typical characteristics like continuous and chronic thickening of the walls and the contraction of the internal carotid artery; as a result, the internal diameter of the artery gets narrowed. There are six phases of the disease ranging from I to VI (moyamoya vessels completely disappear, followed by the complete blockage of the arteries). Surgery is a commonly recommended treatment for the moyamoya disease. Our research study identifies the effect of autologous bone marrow stem cell therapy (ABMSCT) on the levels of inflammatory factors and Conexin43 (Cx43) protein in patients suffering from moyamoya. In our study, we have selected 52 moyamoya patients admitted to our hospital from 30 July 2019 to 10 February 2020. The control group (CG) was treated with superficial temporal artery to a middle cerebral artery (STA-MCA) bypass + encephalo-duro-myosinangiosis (EDMS). The experimental group (Exp. Grp) was treated with ABMSC. The cerebral vascular tissue of the patients was treated with hematoxylin-eosin (HE) staining. Immunohistochemical staining was used to identify the levels of Cx43 protein. The concentrations of vascular endothelial growth factor (VEGF), inflammatory factor interleukin-6 (IL6), interleukin-1ß (IL1ß), tumor necrosis factor (TNFα), and anti-inflammatory factor interleukin-1ß (IL1ß) were determined by enzyme-linked immunosorbent assay (ELISA). We have found that after treatment of the expression of Cx43 protein, the proportions of grade IV (7.7%), grade III (311.5%), and grade II (3.8%) patients in the Exp. Grp were lower than those in the CG. The proportion of grade I patients in the Exp. Grp (77%) was higher than that in the CG (38.5%). After treatment, the inflammatory factors IL6 (0.97 ± 0.82 pg/mL), IL1ß (8.33 ± 1.21 pg/mL), and TNFα (1.73 ± 0.71 pg/mL) in the Exp. Grp were lower than those in the CG. The anti-inflammatory factor IL1ß (15.09 ± 4.72 pg/mL) increased in the Exp. Grp compared with the CG (11.25 ± 3.48 pg/mL) post treatment. Intracranial infection, hydrocephalus, hemiplegia, and transient neurological dysfunction in the Exp. Grp were lower than those in the CG, with statistical differences (P < 0.05). Our study suggests that the treatment of autologous bone marrow stem cells (ABMSC) was beneficial to balance the inflammatory response of disorders, reduce the damage of vascular tissue in the brain, and regulate tissue repair by co-acting with various inflammatory factors as compared to traditional surgery. We conclude that the involvement of Cx43 in the occurrence and development of moyamoya. We also have found that the risk factors of intracranial infection after ABMSCT were less as compared to those after conventional surgery.
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Revascularización Cerebral , Enfermedad de Moyamoya , Médula Ósea/patología , Médula Ósea/cirugía , Células de la Médula Ósea/patología , Conexina 43 , Humanos , Interleucina-1beta , Interleucina-6 , Enfermedad de Moyamoya/patología , Enfermedad de Moyamoya/terapia , Factor de Necrosis Tumoral alfa , Factor A de Crecimiento Endotelial VascularRESUMEN
OBJECTIVE: De novo cerebral microbleeds (CMBs) on T2*-weighted magnetic resonance imaging (MRI) develop over time in adult moyamoya disease (MMD) and are generally associated with a decline in global cognitive function. The present supplementary analysis of a 5-year prospective cohort aimed to elucidate the incidence of an interval increase in CMBs in adult patients receiving medical management alone for ischemic MMD and its impact on cognitive function. METHODS: Sixty-four patients without misery perfusion in the symptomatic cerebral hemispheres at inclusion who did not experience any further ischemic symptoms or new hemorrhagic events during a 5-year follow-up period underwent T2*-weighted MRI and five kinds of neuropsychologic tests at inclusion and the end of the 5-year follow-up. RESULTS: When T2*-weighted MRI was compared between inclusion and the end of the 5-year follow-up, 10 patients (15%) had an interval increase in CMBs in the symptomatic cerebral hemisphere at inclusion. The scores from two kinds of neuropsychologic tests significantly deteriorated at the end of the 5-year follow-up compared with those at inclusion in patients with an interval increase in CMBs, whereas the scores of four kinds of neuropsychologic tests significantly improved at the end of the 5-year follow-up compared with those at inclusion in patients without interval increases in CMBs, asymptomatic ischemic lesions, or angiographic disease progression. CONCLUSIONS: The incidence of an interval increase in CMBs was 15% per 5 years in adult patients receiving medical management alone for ischemic MMD, and this increase was associated with a decline in cognitive decline.
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Enfermedades de los Pequeños Vasos Cerebrales , Cognición , Enfermedad de Moyamoya , Adulto , Humanos , Cognición/fisiología , Enfermedad de Moyamoya/complicaciones , Enfermedad de Moyamoya/diagnóstico por imagen , Enfermedad de Moyamoya/terapia , Estudios Prospectivos , Enfermedades de los Pequeños Vasos Cerebrales/patologíaRESUMEN
OBJECTIVES: Although revascularization surgery is recommended for adult patients with moyamoya disease (MMD) who present with ischemic symptoms due to hemodynamic compromise, the clinical course of such patients who are treated with medical management alone remains unclear. Here, we report outcomes of adult patients with cerebral misery perfusion due to ischemic MMD who received medical management alone. MATERIALS AND METHODS: We prospectively followed up patients who showed misery perfusion in the symptomatic cerebral hemisphere on 15O gas positron emission tomography (PET) and received strict medical management alone after refusing revascularization surgery. RESULTS: Of 57 patients who showed symptomatic misery perfusion on 15O gas PET, three (5%) were included into the present study. Two of these patients suffered further ischemic events at 7 and 8 months after inclusion, after which, their modified Rankin disability scale scores deteriorated. In the remaining patient, fatal intracerebral hemorrhage developed at 10 months after inclusion. CONCLUSIONS: These findings suggest that receiving medical management alone is associated with considerably poor outcomes for adult patients with cerebral misery perfusion due to ischemic MMD.
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Revascularización Cerebral , Enfermedad de Moyamoya , Adulto , Revascularización Cerebral/efectos adversos , Circulación Cerebrovascular , Humanos , Enfermedad de Moyamoya/complicaciones , Enfermedad de Moyamoya/diagnóstico por imagen , Enfermedad de Moyamoya/terapia , Perfusión , Imagen de Perfusión , Tomografía de Emisión de Positrones/métodosRESUMEN
BACKGROUND AND AIMS: Patients with Moyamoya disease (MMD) can present with ischaemic or haemorrhagic stroke. There is no good evidence for treatment strategies in MMD-associated acute ischaemic stroke (AIS), particularly for treatments like intravenous thrombolysis (IVT) and endovascular thrombectomy (ET). As the intracranial vessels are friable in MMD, and the risk of bleeding is high, the use of IVT and ET is controversial. To clarify the safety and efficacy of IVT/ET in the treatment of MMD-associated AIS, we performed a systematic review and meta-summary to examine this issue. METHODS: A systematic search was performed from four electronic databases: PubMed (MEDLINE), Cochrane Library, EMBASE and Scopus, profiling data from inception till 21 November 2021, as well as, manually on Google Scholar. RESULTS: Ten case reports detailing 10 MMD patients presenting with AIS and undergoing IVT or ET, or both, were included in the analysis. The median National Institute of Health Stroke Scale score at presentation was 10 (Interquartile Range [IQR] = 6.0-16.5). IVT alone was instituted in 6 patients, primary ET was attempted in 2, and 2 had received bridging IVT with ET. Of the 4 patients who underwent ET, 2 patients achieved successful reperfusion (modified Thrombolysis In Cerebral Infarction scale [mTICI] ≥ 2b). In terms of functional outcomes, One patient achieved complete recovery (modified Rankin Scale 0), 4 patients attained improvement in neurological status, and 4 had no improvement, whilst functional outcome was unreported in 1 patient. No patient experienced symptomatic intracranial haemorrhage. CONCLUSIONS: In this systematic review and meta-summary, the utility of IVT and ET in MMD-associated AIS appears feasible in selected cases. Further larger cohort studies are required to evaluate these treatment approaches. HIGHLIGHTS: · AIS in MMD was typically managed with bypass surgery but not via thrombolysis or thrombectomy. · In this meta-summary, all patients treated with thrombolysis and/or thrombectomy survived and some experienced symptomatic and/or functional improvement. · Further larger cohort studies are necessary for investigating the role of thrombolysis and/or thrombectomy as treatment of AIS in MMD.
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Isquemia Encefálica , Accidente Cerebrovascular Isquémico , Enfermedad de Moyamoya , Accidente Cerebrovascular , Isquemia Encefálica/tratamiento farmacológico , Fibrinolíticos/uso terapéutico , Humanos , Accidente Cerebrovascular Isquémico/terapia , Enfermedad de Moyamoya/tratamiento farmacológico , Enfermedad de Moyamoya/terapia , Accidente Cerebrovascular/tratamiento farmacológico , Trombectomía/efectos adversos , Terapia Trombolítica/efectos adversos , Resultado del TratamientoRESUMEN
INTRODUCTION: An ambiguous definition of "asymptomatic" Moyamoya Angiopathy(aMMA) of absence of ischemic/hemorrhagic episodes in MMA patients, has led to its variable adaptation in the limited past-studies. OBJECTIVE: To observe the clinic-radiological characteristics and prospective follow-up of apparently "asymptomatic" MMA, and to determine if it is truly asymptomatic or not. MATERIALS AND METHODS: An observation, cohort study of 122 angiographically proven MMA over 6 years was undertaken from a single, tertiary-care-center to observe the clinico-radiological characteristics, prospective follow-up of apparently aMMA. Amongst them, 6 had an initial diagnosis of aMMA following evaluation by atleast one post-graduate doctor, which were further scrutinized by 3 different neurologists for epidemiological, clinical, radiological characteristics and subsequent follow-up. Data were analyzed using descriptive statistics. RESULTS: Mean age was 23.7 ± 13.14 years. 3 of 6 underwent brain-imaging for evaluation of non-migraine-like headache, 1 for dizziness, 2 as part of familial screening for MMA. 4 of 6 patients had specific-triggers for aggravation of symptoms. Brain-imaging revealed old vascular insults and ivy sign in 5 of 6 each (83.3%), mean suzuki staging was 3.6±0.82. 4 of 6 underwent cerebral perfusion study, all had hypoperfusion. Revascularization surgery was done in 2 of 6, rest were managed conservatively. None had any new-onset neurological deficit or radiological progression over a mean follow-up period of 22.3 ± 20.22 months. CONCLUSIONS: Apparently aMMA may not be truly asymptomatic and often have subtle "paroxysmal events" precipitated by specific-triggers, indicative of transient ischemic symptoms. Thus, warrants for a more precise definition to avoid misclassification of aMMA.
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Revascularización Cerebral , Enfermedad de Moyamoya , Adolescente , Adulto , Encéfalo/cirugía , Niño , Estudios de Cohortes , Humanos , Enfermedad de Moyamoya/diagnóstico por imagen , Enfermedad de Moyamoya/terapia , Estudios Prospectivos , Procedimientos Quirúrgicos Vasculares , Adulto JovenAsunto(s)
Revascularización Cerebral , Enfermedad de Moyamoya , Accidente Cerebrovascular , Humanos , Japón , Enfermedad de Moyamoya/diagnóstico , Enfermedad de Moyamoya/terapia , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/etiología , Accidente Cerebrovascular/terapia , Resultado del TratamientoRESUMEN
INTRODUCTION: Moyamoya disease is characterized by progressive stenotic changes in the terminal segment of the internal carotid artery and the development of abnormal vascular networks called moyamoya vessels. The objective of this review was to provide a holistic view of the epidemiology, etiology, clinical findings, treatment, and pathogenesis of moyamoya disease. A literature search was performed in PubMed using the term "moyamoya disease," for articles published until 2021. RESULTS: Artificial intelligence (AI) clustering was used to classify the articles into 5 clusters: (1) pathophysiology (23.5%); (2) clinical background (37.3%); (3) imaging (13.2%); (4) treatment (17.3%); and (5) genetics (8.7%). Many articles in the "clinical background" cluster were published from the 1970s. However, in the "treatment" and "genetics" clusters, the articles were published from the 2010s through 2021. In 2011, it was confirmed that a gene called Ringin protein 213 (RNF213) is a susceptibility gene for moyamoya disease. Since then, tremendous progress in genomic, transcriptomic, and epigenetic profiling (e.g., methylation profiling) has resulted in new concepts for classifying moyamoya disease. Our literature survey revealed that the pathogenesis involves aberrations of multiple signaling pathways through genetic mutations and altered gene expression. CONCLUSION: We analyzed the content vectors in abstracts using AI, and reviewed the pathophysiology, clinical background, radiological features, treatments, and genetic peculiarity of moyamoya disease.
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Enfermedad de Moyamoya , Adenosina Trifosfatasas/genética , Inteligencia Artificial , Predisposición Genética a la Enfermedad , Humanos , Enfermedad de Moyamoya/diagnóstico por imagen , Enfermedad de Moyamoya/genética , Enfermedad de Moyamoya/terapia , Ubiquitina-Proteína Ligasas/genéticaRESUMEN
Moyamoya disease (MMD) is a chronic cerebrovascular disease characterized by progressive stenosis of the arteries of the circle of Willis, with the formation of collateral vascular network at the base of the brain. Its clinical manifestations are complicated. Numerous studies have attempted to clarify the clinical features of MMD, including its epidemiology, genetic characteristics, and pathophysiology. With the development of neuroimaging techniques, various neuroimaging modalities with different advantages have deepened the understanding of MMD in terms of structural, functional, spatial, and temporal dimensions. At present, the main treatment for MMD focuses on neurological protection, cerebral blood flow reconstruction, and neurological rehabilitation, such as pharmacological treatment, surgical revascularization, and cognitive rehabilitation. In this review, we discuss recent progress in understanding the clinical features, in the neuroimaging evaluation and treatment of MMD.
Asunto(s)
Enfermedad de Moyamoya , Encéfalo/diagnóstico por imagen , Progresión de la Enfermedad , Humanos , Enfermedad de Moyamoya/diagnóstico por imagen , Enfermedad de Moyamoya/genética , Enfermedad de Moyamoya/terapia , NeuroimagenRESUMEN
INTRODUCTION: No clear guidelines for treating adult patients with ischemic moyamoya disease (MMD) without cerebral hemodynamic compromise such as misery perfusion have been established. Our previous prospective cohort study of adult patients with MMD without misery perfusion who were treated with medical management alone, including an antiplatelet drug, showed a recurrent ischemic event rate of 3% per 2 years. The present prospective study aimed to elucidate the 5-year clinical, cerebral perfusion, and cognitive outcomes of medical management alone for Japanese adult patients with ischemic MMD without cerebral misery perfusion by following the same patients for another 3 years. METHODS: In total, 68 patients without recurrent events at a 2-year follow-up were prospectively followed up for another 3 years. Cerebral blood flow (CBF) in the symptomatic cerebral hemisphere was measured using brain perfusion single-photon emission computed tomography at inclusion and at the end of the subsequent 3-year follow-up. Neuropsychological testing was performed at inclusion and at the end of the initial 2- and subsequent 3-year follow-ups. RESULTS: During the subsequent 3-year follow-up, 2 patients (3%) developed further ischemic events. In patients without further ischemic events, CBF was significantly greater at the end of the subsequent 3-year follow-up than at inclusion (p = 0.0037), and all neuropsychological test scores improved or remained unchanged at the end of initial 2- and subsequent 3-year follow-ups compared with that at inclusion. CONCLUSION: In adult patients receiving medical management alone for ischemic MMD without cerebral misery perfusion, the incidence of further ischemic events was 6% per 5 years and did not change between the initial 2 years after the last is-chemic event and the subsequent 3 years. In patients without further ischemic events, CBF and cognitive function had not deteriorated at 5 years after the last ischemic event.