Moyamoya syndrome (MMS) is a subset of moyamoya disease (MMD) with a systemic comorbidity. Due to the lack of direct comparisons between various MMS subgroups and their MMD counterparts, we aimed to analyze differences in stroke-related outcomes between MMS subgroups and patients with MMD through propensity score matching (PSM).

We analyzed the National Inpatient Sample (NIS) from 2011 to 2020 for patients with MMD and common MMS-related comorbidities: Down syndrome (DS), sickle-cell disease (SCD), and type 1 neurofibromatosis (NF1). PSM was performed to match patients of each MMS subgroup to patients with MMD only, controlling for stroke risk factors. Rates of ischemic strokes, hemorrhagic strokes, and transient ischemic attacks (TIAs) were evaluated after matching.

A total of 10,652 patients with a moyamoya diagnosis were identified: 7971 with MMD only, 2202 with MMS-SCD, 162 with MMS-NF1, and 317 with MMS-DS. PSM for MMD only and MMS-SCD resulted in 630 matched pairs. After matching, univariate analysis showed that patients with MMS-SCD had significantly lower rates of ischemic strokes (8.9% vs. 17.9%; P = 0.001), hemorrhagic strokes (5.1% vs. 8.1%; P = 0.031), and TIAs (2.2% vs. 4.6%; P = 0.020) than did patients with MMD only. For the MMS-DS subgroup, 92 matched pairs showed significantly lower rates of TIAs than did patients with MMD only (0% vs. 6.5%; P = 0.013). Comparing 54 matched pairs of patients with MMD only and patients with MMS-NF1 showed no significant differences in stroke-related outcomes.

Patients with MMS-SCD had significantly lower rates of acute ischemic stroke, hemorrhagic stroke, and TIA compared with patients with MMD only. Future research should consider the source of these differences in improving stroke prevention in patients with MMD.

Neurofibromatosis type 1 (NF1) is a multisystemic neurocutaneous disease caused by a heterozygous mutation of the NF1 gene that encodes neurofibromin. Complications include vascular and neurologic abnormalities such as moyamoya syndrome, a cerebrovascular disorder with progressive occlusion of the large intracranial arteries, leading to ischemic events and the formation of abnormal vascular networks. Stenosis of the renal artery is another frequent complication of neurofibromatosis type 1, and it represents the most common cause of secondary hypertension in these patients. The purpose of the article is to describe the clinical manifestations of neurofibromatosis type 1 vasculopathy in 4 patients presenting with a wide range of neurologic and reno-vascular manifestations, as well as to examine current diagnostic management and follow-up, current therapeutic options, and to discuss further perspectives in terms of screening, diagnosis, and treatment.

Moyamoya disease (MMD) and moyamoya syndrome (MMS) are rare cerebrovascular conditions with unclear distinctions in clinical presentation and prognosis.

This study assessed potential differences between MMD and MMS patients using real-world data on clinical manifestations, surgical outcomes, and stroke risk factors.

This multicenter, retrospective cohort study examined patients with MMD or MMS treated at three tertiary academic hospitals in China, with a mean follow-up of 11.2 ± 3.1 years. Clinical differences were compared between MMD and MMS, and postoperative cerebrovascular events were compared between patients who underwent surgery and those with conservative management. Primary outcomes were postoperative ischemic and hemorrhagic strokes. Risk factors were evaluated via multivariate Cox regression analysis.

Of the 2565 patients, 2349 had MMD and 216 had MMS. After 1:1 propensity-score matching, no significant differences were observed between these two cohorts. Surgical patients had fewer cerebrovascular events than those who received conservative treatment (HR, 0.487; 95% CI, 0.334-0.711; p < 0.001). Preadmission modified Rankin scale scores > 2 (HR, 3.139; 95% CI, 1.254-7.857; p = 0.015) and periprocedural complications (HR, 8.666; 95% CI, 3.476-21.604; p < 0.001) were independent stroke risk factors in patients with MMD. Periprocedural complications (HR, 31.807; 95% CI, 10.916-92.684; p < 0.001) increased stroke risk in patients with MMS.

This real-world study revealed substantial clinical overlap between MMD and MMS. Both groups derived significant benefits from surgical revascularization, suggesting distinction may not be necessary to guide surgical management decisions. Optimizing preoperative status and preventing periprocedural complications may improve outcomes in these rare cerebrovascular conditions.

This study has been registered in the Chinese Clinical trial registry (registration number: ChiCTR2200064160).

The characteristics and clinical implications of posterior cerebral artery (PCA) involvement in unilateral moyamoya disease (U-MMD), such as laterality, frequency of the RNF213 p.R4810K mutation, and clinical outcomes, have not been well studied.

We analyzed a cohort of 93 patients with U-MMD who participated in the SUPRA Japan study. Clinical characteristics and radiological examinations were collected from medical records. The presence of the p.R4810K mutation was determined using a TaqMan assay. The clinical outcome was assessed using the modified Rankin Scale (mRS). Univariate and multivariate logistic regression analyses were performed to assess the associations.

Among the patients with U-MMD, PCA involvement was observed in 60.0 % (3/5) of patients with homozygous mutation, 11.3 % (7/62) of those with heterozygous mutation, and 3.8 % (1/26) of those with wild type, showing a significant linear trend (p < 0.001 for trend). PCA involvement was observed exclusively on the same side as the affected anterior circulation. Dyslipidemia and cerebral infarction at initial onset were independently associated with mRS ≥1. Hypertension was associated with mRS ≥1 and it was also linked to infarction at initial onset, suggesting a potential confounding effect. Although PCA involvement showed a trend for higher mRS, it was not statistically significant.

Our findings indicate a gene dose effect of the p.R4810K mutation on PCA involvement, with the homozygous state showing the most significant effect. Both genetic and modifiable factors such as dyslipidemia may influence the progression of U-MMD.

Moyamoya disease (MMD), characterized by progressive internal carotid artery stenosis and collateral vessel formation, prompts cerebral perfusion complications and is stratified into idiopathic and Moyamoya syndrome subtypes. A multifaceted approach toward MMD management addresses cerebral infarctions through revascularization surgery and adjunctive medical therapy, while also navigating risks such as intracranial hemorrhage and cerebral infarction resulting from arterial stenosis and fragile collateral vessels. Addressing antithrombotic management reveals a potential role for treatments like antiplatelet agents and anticoagulants, despite the ambiguous contribution of thrombosis to MMD-related infarctions and the critical balance between preventing ischemic events and averting hemorrhagic complications. Transcranial doppler has proven useful in thromboembolic detection, despite persisting challenges concerning the efficacy and safety of antithrombotic treatments. Furthermore, antihypertensive interventions aim to manage blood pressure meticulously, especially during intracerebral hemorrhage, with recommendations and protocols varying based on the patient's hypertension status. Additionally, lipid-lowering therapeutic strategies, particularly employing statins, are appraised for their possible beneficial role in MMD management, even as comprehensive data from disease-specific clinical trials remains elusive. Comprehensive guidelines and protocols to navigate the multifaceted therapeutic avenues for MMD, while maintaining a delicate balance between efficacy and safety, warrant further meticulous research and development. This protocol manuscript seeks to elucidate the various aspects and challenges imbued in managing and navigating through the complex landscape of MMD treatment.

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.

Moyamoya disease (MMD) patients were now classified according to their cerebrovascular manifestations, with cognition and emotion ignored, which attenuated the therapy. The present study tried to classify them based on their cognitive and emotional performance and explored the neural basis underlying this classification using resting-state fMRI (rs-fMRI). Thirty-nine MMD patients were recruited, assessed mental function and MRI scanned. We adopted hierarchical analysis of their mental performance for new subtypes. Next, a three-step analysis, with each step consisting of 10 random cross validation, was conducted for robust brain regions in classifying the three subtypes of patients in a support vector machine (SVM) model with hypergraph of rs-fMRI. We found three new subtypes including high depression-high anxiety-low cognition (HE-LC, 50%), low depression-low anxiety-high cognition (LE-HC, 14%), and low depression-low anxiety-low cognition (LE-LC, 36%), and no hemorrhagic MMD patients fell into the LE-HC group. The temporal and the bilateral superior frontal cortex, and so forth were included in all 10 randomized SVM modeling. The classification accuracy of the final three-way classification model was 67.5% in average of 10 random cross validation. In addition, the S value between the frontal cortex and the angular cortex was positively correlated with the anxiety score and backward digit span (p < .05). Our results might provide a new perspective for MMD classification concerning patients' mental status, guide timely surgery and suggest angular cortex, and so forth should be protected in surgery for cognitive consideration.

This meta-analysis, which consisted of a scoping review and retrospective medical record review, is focused on potential sex differences in cardiovascular diseases in patients with Down syndrome. We limited our review to peer-reviewed, primary articles in the English language, in the PubMed and Web of Science databases from 1965 to 2021. Guidelines for scoping reviews were followed throughout the process. Four categorical domains were identified and searched using additional keywords: 1) congenital heart disease, 2) baseline physiology and risk factors, 3) heart disease and hypertension, and 4) stroke and cerebrovascular disease. Articles were included if they reported male and female distinct data, participants with Down syndrome, and one of our keywords. The retrospective medical record review was completed using 75 participating health care organizations to identify the incidence of congenital and cardiovascular diseases and to quantify cardiovascular risk factors in male and female patients. Female patients with Down syndrome are at higher risk of hypertension, ischemic heart disease, and cerebrovascular disease. The risk of congenital heart disease is higher in males with Down syndrome at all ages included in our analyses. Some of the male-to-female sex differences in cardiovascular disease risk in the general patient population are not present, or reversed in the Down syndrome population. This information should be considered for future investigations and ongoing patient care.NEW & NOTEWORTHY In patients with Down syndrome (DS), CHD is the leading cause of death <20 yr old and cardiovascular disease is a leading cause of death in individuals >20 yr old. Men with DS live longer than women. It is unknown if sex differences are present in cardiovascular disease and dysregulation in DS across the lifespan. We observed higher risk of hypertension, ischemic heart disease, and cerebrovascular disease in females and a higher risk of CHD in males with DS.

Sickle cell disease (SCD) is an inherited hemoglobinopathy affecting approximately 100,000 individuals in the United States. Cerebrovascular disease is among the most common and debilitating complications of SCA, with 53% experiencing silent cerebral infarct by age 30 and 3.8% experiencing overt stroke by age 40 years. This review highlights the burden of cerebrovascular disease in SCD, including both stroke and silent cerebral infarct (SCI). We then discuss the pathophysiology of stroke and cerebral fat embolism in the absence of a patent foramen ovale. This review also reveals that options for primary and secondary stroke prevention in SCD are still limited to hydroxyurea and blood transfusion, and that the role of aspirin and anticoagulation in SCD stroke has not been adequately studied. Limited data suggest that the novel disease-modifying agents for SCD management may improve renal dysfunction, leg ulcers, and lower the abnormally high TCD flow velocity. Further research is urgently needed to investigate their role in stroke prevention in SCD, as these novel agents target the main stroke contributors in SCD - hemolysis and vaso-occlusion. This literature review also explores the role of healthcare disparities in slowing progress in SCD management and research in the United States, highlighting the need for more investment in patient and clinician education, SCD management, and research.

Stroke is the leading cause of death in patients with Sickle cell disease (SCD). Here, we detail the burden of Moyamoya syndrome (MMS) as a cause of stroke in patients with SCD.

A review of SCD-related hospital discharges was conducted utilizing the National Inpatient Sample. Rates of stroke hospitalization, risk factors, procedures, and outcomes were compared between patients with SCD-MMS and SCD alone. Univariate analyses including T-test, Wilcoxon Rank-Sum test, Chi-square were performed to compare risk factors and outcomes. Multivariable regression was used to identify predictors of stroke unique to each population.

Stroke occurred in 9.8% of SCD-MMS hospitalizations versus 0.5% of those involving patients with SCD alone (OR = 20.71, p < 0.001). Patients with SCD-MMS developed stroke at younger ages and with fewer comorbidities compared to those with SCD alone. Stroke hospitalizations in SCD-MMS involved a greater number of procedures (90.5% vs. 79.3%, p = 0.007), but were more likely to result in favorable discharge (58.5% vs. 44.2%, p = 0.005). The presence of anemia during hospitalization was a significant risk factor for stroke in both cohorts. Long-term antiplatelet use was protective against stroke (OR = 0.42, p = 0.008) only in the SCD-MMS cohort.

MMS confers a 20-fold increased risk of stroke among patients with SCD and appears to be an important cause of recurrent stroke in this population. Anemia is one of the most significant risk factors for stroke, while antiplatelet use appears to confer a protective benefit.