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Background: Cerebrovascular reserve (CVR) reflects the capacity of cerebral blood flow (CBF) to change following a vasodilation challenge. Decreased CVR is associated with a higher stroke risk in patients with cerebrovascular diseases. While revascularization can improve CVR and reduce this risk in adult patients with vasculopathy such as those with Moyamoya disease, its impact on hemodynamics in pediatric patients remains to be elucidated. Arterial spin labeling (ASL) is a quantitative MRI technique that can measure CBF, CVR, and arterial transit time (ATT) non‐invasively. Purpose: To investigate the short‐ and long‐term changes in hemodynamics after bypass surgeries in patients with Moyamoya disease. Study Type: Longitudinal. Population: Forty‐six patients (11 months–18 years, 28 females) with Moyamoya disease. Field Strength/Sequence: 3‐T, single‐ and multi‐delay ASL, T1‐weighted, T2‐FLAIR, 3D MRA. Assessment: Imaging was performed 2 weeks before and 1 week and 6 months after surgical intervention. Acetazolamide was employed to induce vasodilation during the imaging procedure. CBF and ATT were measured by fitting the ASL data to the general kinetic model. CVR was computed as the percentage change in CBF. The mean CBF, ATT, and CVR values were measured in the regions affected by vasculopathy. Statistical Tests: Pre‐ and post‐revascularization CVR, CBF, and ATT were compared for different regions of the brain. P‐values <0.05 were considered statistically significant. Results: ASL‐derived CBF in flow territories affected by vasculopathy significantly increased after bypass by 41 ± 31% within a week. At 6 months, CBF significantly increased by 51 ± 34%, CVR increased by 68 ± 33%, and ATT was significantly reduced by 6.6 ± 2.9%. Data Conclusion: There may be short‐ and long‐term improvement in the hemodynamic parameters of pediatric Moyamoya patients after bypass surgery. Evidence Level: 4 Technical Efficacy: Stage 2 [ABSTRACT FROM AUTHOR]

Background: Little is known about the association between stroke and imaging and clinical features in conservatively treated patients with moyamoya disease (MMD). Purpose: To investigate independent risk factors for stroke in conservatively treated patients with MMD during a long‐term follow‐up. Study Type: Prospective study. Subjects: One hundred sixty conservatively managed patients with MMD (median age 46 years, 89 male). Field Strength/Sequence: Time of flight, turbo inversion recovery magnitude T1WI, turbo spin echo (TSE) T2WI, echo‐planar imaging DWI, T2‐fluid attenuated inversion recovery, dynamic susceptibility contrast‐magnetic resonance imaging, and pre‐ and post‐contrast 3D TSE T1WI sequences at 3.0 Tesla. Assessment: Patients were assessed at baseline and followed yearly. Ischemic and hemorrhagic stroke incidence rates were determined. Multiple demographic, clinical (modified Rankin score [mRS]), and cerebral imaging (cerebral blood volume [CBV] and concentric enhancement of arterial wall) factors at baseline were considered as potential predictors of stroke during the follow‐up period. Statistical Tests: Univariable and multivariable Cox proportional hazards models to calculate the hazard ratios (HRs) and corresponding 95% confidence interval (CI) for stroke. Cumulative risk of stroke was estimated by the Kaplan–Meier product‐limit method. A P value <0.05 was considered statistically significant. Results: The median follow‐up duration was 47 months. During the follow‐up period, 18 (11.25%) patients experienced stroke events (13 [8.13%] ischemic, 5 [3.12%] hemorrhagic). Univariable analysis showed that 11 factors were significantly associated with stroke. After adjustment for clinical characteristics, multivariable analysis showed that mRS score ≥3 (HR, 1.99; 95% CI, 1.26–3.14), decreased CBV (HR, 5.31; 95% CI, 2.32–12.13), and concentric enhancement of the arterial wall (HR, 4.16; 95% CI, 1.55–11.15) were significantly associated with stroke. Data Conclusion: Decreased CBV, mRS score ≥ 3, and concentric enhancement of the arterial wall were significantly associated with increased incidence of stroke in conservatively treated MMD. Evidence Level: 2 Technical Efficacy: Stage 4 [ABSTRACT FROM AUTHOR]

Moyamoya disease (MMD) is a rare cerebrovascular condition characterized by the narrowing of the internal carotid arteries, leading to the formation of abnormal blood vessels in the brain. Surgical treatment is currently the preferred option for MMD patients, but the underlying mechanisms of the disease are not well understood. Previous studies have focused on biomarker discovery using peripheral blood samples, but more recent research has explored molecular profiling of circulating biomarkers in cerebrospinal fluid and blood. These studies have identified potential biomarkers and provided insights into the pathogenesis of MMD. Multi-omic approaches, including genomics, transcriptomics, proteomics, and metabolomics, have the potential to improve disease diagnosis, risk stratification, and personalized treatment for MMD patients. [Extracted from the article]

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Background: Moyamoya disease (MMD) stands as a prominent cause of stroke among children and adolescents in East Asian populations. Although a growing body of evidence suggests that dysregulated inflammation and autoimmune responses might contribute to the development of MMD, a comprehensive and detailed understanding of the alterations in circulating immune cells associated with MMD remains elusive. Methods: In this study, we employed a combination of single‐cell RNA sequencing (scRNA‐seq), mass cytometry and RNA‐sequencing techniques to compare immune cell profiles in peripheral blood samples obtained from patients with MMD and age‐matched healthy controls. Results: Our investigation unveiled immune dysfunction in MMD patients, primarily characterized by perturbations in T‐cell (TC) subpopulations, including a reduction in effector TCs and an increase in regulatory TCs (Tregs). Additionally, we observed diminished natural killer cells and dendritic cells alongside heightened B cells and monocytes in MMD patients. Notably, within the MMD group, there was an augmented proportion of fragile Tregs, whereas the stable Treg fraction decreased. MMD was also linked to heightened immune activation, as evidenced by elevated expression levels of HLA‐DR and p‐STAT3. Conclusions: Our findings offer a comprehensive view of the circulating immune cell landscape in MMD patients. Immune dysregulation in patients with MMD was characterized by alterations in T‐cell populations, including a decrease in effector T‐cells and an increase in regulatory T‐cells (Tregs), suggest a potential role for disrupted circulating immunity in the aetiology of MMD. [ABSTRACT FROM AUTHOR]

Moyamoya disease (MMD) is a chronic occlusive cerebrovascular disease with the development of a network of abnormal vessels. Immune inflammation is associated with the occurrence and development of MMD. However, the mechanisms underlying the formation of the abnormal vascular network remain unclear. Twenty-eight patients with MMD, 26 ischemic stroke patients, and 26 unrelated healthy volunteers were enrolled in this study The data showed that the levels of granulocyte-macrophage colony-stimulating factor (GM-CSF) were higher in MMD patients than in healthy controls (P <0.01), and GM-CSF was mainly from Th1 and Th17 cells in MMD. We found that increased GM-CSF drove monocytes to secrete a series of cytokines associated with angiogenesis, inflammation, and chemotaxis. In summary, our findings demonstrate for the first time the important involvement of GM-CSF in MMD and that GM-CSF is an important factor in the formation of abnormal vascular networks in MMD. [ABSTRACT FROM AUTHOR]

Objective: To investigate the relationship of followings for patients with moyamoya disease (MMD): arterial wall enhancement on vessel wall MRI (VW-MRI), cross-sectional area (CSA), time-of-flight MR angiography (MRA), age, locations from intracranial internal carotid artery (ICA) to proximal middle cerebral artery (MCA), disease progression, and transient ischemic attack (TIA). Methods: Patients who underwent VW-MRI between October 2018 and December 2020 were enrolled in this retrospective study. We measured arterial wall enhancement (enhancement ratio, ER) and CSA at five sections of ICA and MCA. Also, we scored MRA findings. Multiple linear regression (MLR) analysis was performed to explore the associations between ER, age, MRA score, CSA, history of TIA, and surgical revascularization. Results: We investigated 102 sides of 51 patients with MMD (35 women, 16 men, mean age 31 years ± 18 [standard deviation]). ER for MRA score 2 (signal discontinuity) was higher than ER for other scores in sections D (end of ICA) and E (proximal MCA) on MLR analysis. ER in section E was significantly higher in patients for MRA score 2 with TIA history than without. ER significantly increased as CSA increased in section E, which suggests ER becomes less in decreased CSA due to negative remodeling. Conclusion: Arterial wall enhancement in MMD varies by age, location, and disease progression. Arterial wall enhancement may be stronger in the progressive stage of MMD. Arterial wall enhancement increases with history of TIA at proximal MCA, which may indicate the progression of the disease. Clinical relevance statement: Arterial wall enhancement in moyamoya disease varies by age, location of arteries, and disease progression, and arterial wall enhancement may be used as an imaging biomarker of moyamoya disease. Key Points: It has not been clarified what arterial wall enhancement in moyamoya disease represents. Arterial wall enhancement in moyamoya disease varies by age, location of arteries, and disease progression. Arterial wall enhancement in moyamoya disease increases as the disease progresses. [ABSTRACT FROM AUTHOR]

Moyamoya disease (MMD) is characterized by progressive occlusion of the intracranial internal carotid arteries, leading to ischemic and hemorrhagic events. Significant clinical differences exist between ischemic and hemorrhagic MMD. To understand the molecular profiles in the cerebrospinal fluid (CSF) of MMD patients, we investigated 62 secreted factors in both MMD subtypes (ischemic and hemorrhagic) and examined their relationship with preoperative perfusion status, the extent of postoperative angiographic revascularization, and functional outcomes. Intraoperative CSF was collected from 32 control and 71 MMD patients (37 ischemic and 34 hemorrhagic). Multiplex Luminex assay analysis showed that 41 molecules were significantly elevated in both MMD subtypes when compared to controls, including platelet-derived growth factor-BB (PDGF-BB), plasminogen activator inhibitor 1 (PAI-1), and intercellular adhesion molecule 1 (ICAM1) (p < 0.001). Many of these secreted proteins have not been previously reported in MMD, including interleukins (IL-2, IL-4, IL-5, IL-7, IL-8, IL-9, IL-17, IL-18, IL-22, and IL-23) and C-X-C motif chemokines (CXCL1 and CXCL9). Pathway analysis indicated that both MMD subtypes exhibited similar cellular/molecular functions and pathways, including cellular activation, migration, and inflammatory response. While neuroinflammation and dendritic cell pathways were activated in MMD patients, lipid signaling pathways involving nuclear receptors, peroxisome proliferator-activated receptor (PPAR), and liver X receptors (LXR)/retinoid X receptors (RXR) signaling were inhibited. IL-13 and IL-2 were negatively correlated with preoperative cerebral perfusion status, while 7 factors were positively correlated with the extent of postoperative revascularization. These elevated cytokines, chemokines, and growth factors in CSF may contribute to the pathogenesis of MMD and represent potential future therapeutic targets. [ABSTRACT FROM AUTHOR]

Background: The study aimed to investigate the association between nonalcoholic fatty liver disease (NAFLD) and ischemic stroke events after revascularization in patients with Moyamoya disease (MMD). Methods: This study prospectively enrolled 275 MMD patients from September 2020 to December 2021. Patients with alcoholism and other liver diseases were excluded. NAFLD was confirmed by CT imaging or abdominal ultrasonography. Stroke events and modified Rankin Scale (mRS) scores at the latest follow-up were compared between the two groups. Results: A total of 275 patients were enrolled in the study, among which 65 were diagnosed with NAFLD. Univariate logistic regression analysis showed that NAFLD (P = 0.029) was related to stroke events. Multivariate logistic regression analysis showed that NAFLD is a predictor of postoperative stroke in MMD patients (OR = 27.145, 95% CI = 2.031–362.81, P = 0.013). Kaplan-Meier analysis showed that compared with MMD patients with NAFLD, patients in the control group had a longer stroke-free time (P = 0.004). Univariate Cox analysis showed that NAFLD (P = 0.016) was associated with ischemic stroke during follow-up in patients with MMD. Multivariate Cox analysis showed that NAFLD was an independent risk factor for stroke in patients with MMD (HR = 10.815, 95% CI = 1.259–92.881, P = 0.030). Furthermore, fewer patients in the NAFLD group had good neurologic status (mRS score ≤ 2) than the control group (P = 0.005). Conclusion: NAFLD was an independent risk factor for stroke in patients with MMD after revascularization and worse neurological function outcomes. [ABSTRACT FROM AUTHOR]

Simple Summary: Craniopharyngiomas are rare brain tumors that can occur in children and adults, who are usually treated with surgery and radiotherapy. These procedures and their resulting long-term consequences, such as morbid obesity, can increase the risk of vascular complications. This scoping review assesses the available evidence regarding vascular events associated with the tumor and its treatment. This review includes an overview of available studies and proposes avenues for further research. However, additional prospective observational studies are required to assess potential risk factors for cardio- and cerebrovascular events in craniopharyngioma patients. Craniopharyngioma (CP) treatment, including surgery and radiotherapy, can have short- and long-term vascular side effects. Hypothalamic damage is related to morbid obesity and may increase the lifelong risk of experiencing vascular events in CP patients. This review summarized the available evidence regarding vascular complications in adamantinomatous or papillary CP patients, whatever their age at diagnosis. Three databases (Medline, CINAHL, Web of Science) were searched (06/2023) to retrieve eligible articles. The search was limited to peer-reviewed articles. Titles, abstracts, and full texts were screened by two independent reviewers, and data were extracted using a self-developed grid. Seventy-two studies were included in this review; the majority were case reports. Reported vascular sequela that occurred due to surgery were fusiform dilation of the carotid artery, stroke, vasospasm, hemorrhage, and aneurysm. Related conditions that emerged due to radiotherapy included Moyamoya syndrome and cavernoma. Cardiovascular morbidity and mortality often lead to hypothalamic obesity and metabolic syndrome in CP patients. Vascular damage is a rare complication of CP treatment. Surgical strategies should protect the surrounding hypothalamic and vascular structures. Patients receiving radiotherapy, particularly at a young age, should undergo magnetic resonance angiography monitoring to identify possible neurovascular sequela during post-treatment care. [ABSTRACT FROM AUTHOR]

Moyamoya disease (MMD) is characterized by progressive arterial occlusion, causing chronic hemodynamic impairment, which can reduce brain volume. A novel quantitative technique, synthetic magnetic resonance imaging (SyMRI), can evaluate brain volume. This study aimed to investigate whether brain volume measured with SyMRI correlated with cerebral blood flow (CBF) and brain function in adult MMD. In this retrospective study, 18 adult patients with MMD were included. CBF was measured using iodine-123-N-isopropyl-p-iodoamphetamine single photon emission computed tomography. Cerebrovascular reactivity (CVR) to acetazolamide challenge was also evaluated. Brain function was measured using the Wechsler Adult Intelligence Scales (WAIS)-III/IV and the WAIS-R tests. Gray matter (GM), white matter, and myelin-correlated volumes were evaluated in six areas. Resting CBF was positively correlated with GM fractions in the right anterior cerebral arterial and right middle cerebral arterial (MCA) territories. CVR was positively correlated with GM fraction in the right posterior cerebral arterial (PCA) territory. Full-Scale Intelligence Quotient and Verbal Comprehension Index scores were marginally positively correlated with GM fractions in the left PCA territory. Processing Speed Index score was marginally positively correlated with GM fraction in the right MCA territory. The SyMRI-measured territorial GM fraction correlated with CBF and brain function in patients with MMD. [ABSTRACT FROM AUTHOR]

The psycho-emotional symptom experiences and health-related factors that influence the quality of life of adolescents with Moyamoya disease are still not fully understood. The aim of this study is to identify the daily physical and accompanying psychological symptom experiences of such adolescents, and to examine how health-related factors contribute to their quality of life. This study employed a descriptive cross-sectional research design. Data on a total of 134 adolescents with Moyamoya disease was analyzed in order to develop a path analysis. Data were collected from October 2019 to January 2021 in South Korea. The theory of salutogenesis was employed in order to develop a hypothetical model for this path analysis. Participants were given a self-reporting questionnaire. Descriptive analysis and path analysis were conducted based on the results. Adolescents with Moyamoya disease experienced several negative emotions simultaneously, regardless of the severity of their physical symptoms. The path analysis revealed that stress, a sense of coherence, behavior, and the support of friends were significant contributors to adolescents' quality of life. Adolescents with Moyamoya disease have multifaceted symptom experiences in their daily lives. To enhance their quality of life, it is crucial to provide support that can help strengthen their capacity for stress management and enhance their sense of coherence. This study provides evidence that nurses should offer anticipatory information to adolescents with Moyamoya disease regarding the symptoms they will frequently encounter, and develop interventions to enhance their quality of life. • This study first sought to understand the daily physical and psychological symptoms of adolescents with moyamoya. • Adolescents with Moyamoya felt various emotions simultaneously, regardless of symptom severity. • Stress, sense of coherence, health behavior, and friend support directly or indirectly affect adolescents' quality of life. [ABSTRACT FROM AUTHOR]

Lysine and its pathway metabolites have been identified as novel biomarkers for metabolic and vascular diseases. The role of them in the identification of moyamoya disease (MMD) has not been elucidated. This study aimed to determine the association between lysine pathway metabolites and the presence of MMD. We prospectively enrolled 360 MMD patients and 89 healthy controls from September 2020 to December 2021 in Beijing Tiantan Hospital. Serum levels of lysine, pipecolic acid and 2-aminoadipic acid were measured by liquid chromatography-mass spectrometry. We employed logistic regression and restricted cubic spline to explore the association between these metabolites and the presence of MMD. Stratified analyses were also conducted to test the robustness of results. We observed that lysine levels in MMD patients were significantly higher and pipecolic acid levels were significantly lower compared to HCs (both p < 0.001), while no difference was found in the level of 2-AAA between both groups. When comparing metabolites by quartiles, elevated lysine levels were linked to increased odds for MMD (the fourth quartile [Q4] vs the first quartile [Q1]: odds ratio, 3.48, 95%CI [1.39–8.75]), while reduced pipecolic acid levels correlated with higher odds (Q4 vs Q1: odds ratio, 0.08; 95 % CI [0.03–0.20]). The restricted cubic spline found a L-shaped relationship between pipecolic acid level and the presence of MMD, with a cutoff point at 2.52 μmol/L. Robust results were also observed across subgroups. Elevated lysine levels were correlated with increased odds of MMD presence, while lower pipecolic acid levels were associated with higher odds of the condition. These results suggest potential new biomarkers for the identification of MMD. URL: https://www.chictr.org.cn/. Unique identifier: ChiCTR2200061889. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Intracranial hemorrhage is the leading cause of neurological deficits and poor prognosis in adult patients with Moyamoya disease (MMD). Intracranial hemorrhage is occasionally accompanied by MMD‐associated aneurysm and requires additional treatment. To date, direct or indirect bypass surgery or endovascular treatment, such as coil embolization, has been adopted and has achieved successful outcomes. The rapid growth of MMD‐associated aneurysms and rebleeding after direct bypass surgery via superficial temporal artery‐middle cerebral artery (STA‐MCA) anastomosis has rarely been reported. We report a case of a rapidly growing fragile arterial pseudoaneurysm in a patient with MMD. A 45‐year‐old female was admitted with a headache and decreased mental status. Radiological evaluation, including distal subtraction angiography, revealed intraventricular hemorrhage with a left posterior choroidal artery pseudoaneurysm. Within 4 days after revascularization surgery via STA‐MCA direct bypass, the size of the pseudoaneurysm rapidly increased and rebleeding occurred, requiring coil embolization. After endovascular therapy and a second STA‐MCA bypass surgery, the patient recovered well and was discharged 8 days later. Follow‐up radiological imaging revealed an obliterated pseudoaneurysm without rebleeding or complications. In this case, the rapid growth of an MMD‐associated pseudoaneurysm was observed after revascularization surgery because of temporary hemodynamic instability. This report raises questions regarding the causes and management of unstable postbypass hemodynamics. [ABSTRACT FROM AUTHOR]

Purpose: To describe a surgical technique for posterior cerebral revascularization in pediatric patients with moyamoya arteriopathy. Here, we describe the clinical characteristics, surgical indications, operative techniques, and clinical and radiographic outcomes in a series of pediatric patients with moyamoya disease affecting the posterior cerebral artery (PCA) territory. Methods: A retrospective single-center series of all pediatric patients with moyamoya disease who presented to our institute between July 2009 through August 2019 were reviewed. The clinical characteristics, surgical indications, operative techniques, and long-term clinical and radiographic outcomes of pediatric moyamoya patients with PCA territory ischemia were collected and analyzed. Results: A total of 10 PCA revascularization procedures were performed in 9 patients, 5 female, ages 1 to 11.1 years (average 5.2 years). Complications included 1 stroke, with no infections, hemorrhages, seizures, or deaths. One patient had less than 1 year of radiographic and clinical follow-up. In 8 of 9 patients with at least 1 year of radiographic follow-up, there was engraftment of surgical vessels present in all cases. No new strokes were identified on long-term follow-up despite the radiographic progression of the disease. In the 8 cases available for analysis, the average follow-up was 50.8 months with a range of 12 to 117 months. Conclusions: PCA territory ischemia in patients with progressive moyamoya disease can be surgically treated with indirect revascularization. Here, we describe our experience with PCA revascularization procedures for moyamoya disease, including pial pericranial dural (PiPeD) revascularization and pial synangiosis utilizing the occipital artery. These surgical options may be useful for decreasing the risk of stroke in pediatric moyamoya patients with severe posterior circulation disease. [ABSTRACT FROM AUTHOR]

Purpose: Few guidelines exist for genetic testing of patients with moyamoya arteriopathy. This study aims to characterize the yield of genetic testing of non-syndromic moyamoya patients given the current pre-test probability. Methods: All pediatric moyamoya patients who received revascularization surgery at one institution between 2018 and 2022 were retrospectively reviewed. Patients with previously diagnosed moyamoya syndromes or therapeutic cranial radiation were excluded. Results: Of 117 patients with moyamoya, 74 non-syndromic patients (44 females, 59%) were eligible. The median age at surgery was 8.1 years. Neurosurgeons referred 18 (24%) patients for neurogenetic evaluation. Eleven (61%) patients subsequently underwent genetic testing. Eight (73%) patients had available testing results. Five (62.5%) of these patients had developmental delay compared to 16 (22%) of the entire cohort. Six (75%) patients who underwent genetic testing were found to have at least one genetic variant. These results led to diagnosis of a new genetic disorder for 1 (12.5%) patient and screening recommendations for 2 (25%) patients. An RNF213 variant in one patient led to recommendations for family member screening and pulmonary hypertension screening. Another patient was diagnosed with CBL disorder and referred for cancer screening. The median age at surgery in patients with clinically actionable findings was 4.6 years compared to 9.2 years in those who were referred for genetic testing. All 3 patients who had an actionable finding had developmental delay. Conclusion: It may be beneficial to refer moyamoya patients under 5 for genetic screening given the high likelihood of discovering actionable mutations. [ABSTRACT FROM AUTHOR]

Background: Moyamoya disease is an uncommon cerebrovascular disorder. There is speculation that syphilis may induce Moyamoya disease; however, literature on this association is sparse. Case Report: We describe the case of a 43-year-old female with syphilis who experienced three ischemic strokes. Angiography revealed a "puff of smoke" pattern, diagnostic of Moyamoya. The patient underwent antiplatelet therapy following antibiotic treatment for syphilis. Despite conservative management, there was no clinical improvement. Consequently, the patient was referred for neurosurgical intervention and underwent burr hole surgery to treat Moyamoya disease. Conclusion: There are no definitive conclusions regarding whether the patient's primary complaints stem from syphilis or Moyamoya disease. To our knowledge, this case represents the second instance where Moyamoya disease and syphilis have been reported concurrently. This case suggests that syphilis should be considered as a potential factor in patients presenting with Moyamoya disease. [ABSTRACT FROM AUTHOR]

Moyamoya disease is a sporadic cerebrovascular malady categorized by progressive stenosis of the internal carotid arteries and successive development of friable collateral vessels in the brain. The primary root of Moyamoya disease remains undefined, with a genetic predisposition playing an essential role. Familial cases show autosomal dominant inheritance patterns, Chained to particular genetic mutations. Genetic factors cooperating with environmental factors add to disease development. The moyamoya disease mostly occurs in East Asian countries like Korea and Japan. It has global impact. Its occurrence percentage shows demographic variations, with a greater prevalence among females and diverse agerelated occurrence in childhood and adulthood. These patterns show genetic and environmental factors' interconnected linkage. Clinical Manifestations show transient, ischemic strokes, ischemic attacks and intracranial hemorrhages. Clinical signs vary between children and adults, with the later more susceptible to strokes. Cognitive impairment and motor discrepancies also arise due to compromised cerebral perfusion. Diagnosis depends on clinical assessment, neuroimaging, and angiography. Imaging techniques like Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) scans identify cerebral ischemic or hemorrhagic events. Cerebral angiography confirms the diagnosis by revealing a characteristic collateral vessel formation resembling a "puff of smoke." Treatment management includes revascularization procedures, such as direct or indirect bypass surgeries, to improve cerebral blood flow. Medical therapies, including antiplatelet agents, aim to reduce thrombotic risks. Continuing follow-up is crucial to calculate treatment-efficacy and disease progression. [ABSTRACT FROM AUTHOR]

Moyamoya disease (MMD) is a chronic, occlusive cerebrovasculopathy typified by progressive steno-occlusive disease of the intracranial internal carotid arteries (ICAs) and their proximal branches. Moyamoya syndrome (MMS) categorizes patients with characteristic MMD plus associated conditions. As such, the most usual presentations are those that occur with cerebral ischemia, specifically transient ischemic attack, acute ischemic stroke, and seizures. Hemorrhagic stroke, headaches, and migraines can also occur secondary to the compensatory growth of fragile collateral vessels propagated by chronic cerebral ischemia. While the pathophysiology of MMD is unknown, there remain numerous clinical associations including radiation therapy to the brain, inherited genetic syndromes, hematologic disorders, and autoimmune conditions. We describe the case of a 31-year-old woman who presented with recurrent ischemic cerebral infarcts secondary to rapidly progressive, bilateral MMD despite undergoing early unilateral surgical revascularization with direct arterial bypass. She had numerous metabolic conditions and rapidly decompensated, ultimately passing away despite intensive and aggressive interventions. The present case highlights that progression of moyamoya disease to bilateral involvement can occur very rapidly, within a mere 6 weeks, a phenomenon which has not been documented in the literature to our knowledge.

Objective: The aim of this study was to elucidate the genetic pathways associated with Moyamoya disease (MMD) and Moyamoya syndrome (MMS), compare the functional activities, and validate relevant related genes in an independent dataset. Methods: We conducted a comprehensive search for genetic studies on MMD and MMS across multiple databases and identified related genes. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichments analyses were performed for these genes. Commonly shared genes were selected for further validation in the independent dataset, GSE189993. The Sangerbox platform was used to perform statistical analysis and visualize the results. P＜0.05 indicated a statistically significant result. Results: We included 52 MMD and 51 MMS-related publications and identified 126 and 51 relevant genes, respectively. GO analysis for MMD showed significant enrichment in cytokine activity, cell membrane receptors, enzyme binding, and immune activity. A broader range of terms was enriched for MMS. KEGG pathway analysis for MMD highlighted immune and cellular activities and pathways related to MMS prominently featured inflammation and metabolic disorders. Notably, nine overlapping genes were identified and validated. The expressions of RNF213, PTPN11, and MTHFR demonstrated significant differences in GSE189993. A combined receiver operating characteristic curve showed high diagnostic accuracy (AUC = 0.918). Conclusions: The findings indicate a close relationship of MMD with immune activity and MMS with inflammation, metabolic processes and other environmental factors in a given genetic background. Differentiating between MMD and MMS can enhance the understanding of their pathophysiology and inform the strategies for their diagnoses and treatment.

Background: Moyamoya disease (MMD), characterized by chronic cerebrovascular pathology, poses a rare yet significant clinical challenge, associated with elevated rates of mortality and disability. Despite intensive research endeavors, the exact biomarkers driving its pathogenesis remain enigmatic. Methods: The expression patterns of GSE189993 and GSE141022 were retrieved from the Gene Expression Omnibus (GEO) repository to procure differentially expressed genes (DEGs) between samples afflicted with MMD and those under control conditions. The Least Absolute Shrinkage and Selection Operator (LASSO), Support Vector Machine with Recursive Feature Elimination (SVM-RFE), and Random Forest (RF) algorithms were employed for identifying candidate diagnostic genes associated with MMD. Subsequently, these candidate genes underwent validation in an independent cohort (GSE157628). The CMAP database was ultimately employed to forecast drugs pertinent to MMD for clinical translation. Results: A collective of 240 DEGs were discerned. Functional enrichment scrutiny unveiled the enrichment of the cholesterol metabolism pathway, salmonella infection pathway, and allograft rejection pathway within the MMD cohort. EPDR1, DENND3, and NCSTN emerged as discerned diagnostic biomarkers for MMD. The CMAP database was ultimately employed to scrutinize the ten most auspicious pharmaceutical compounds for managing MMD. Finally, after validation through in vitro experiments, EPDR1, DENND3, and NCSTN were identified as the key genes. Conclusion: EPDR1, DENND3, and NCSTN have emerged as potential novel biomarkers for MMD. The involvement of T lymphocytes, neutrophilic granulocytes, dendritic cells, natural killer cells, and plasma cells could be pivotal in the pathogenesis and advancement of MMD.

Moyamoya disease currently lacks a suitable method for early clinical screening.This study aimed to identify a simple and feasible clinical screening index by investigating microRNAs carried by peripheral blood exosomes. Experimental subjects participated in venous blood collection, and exosomes were isolated using Exquick-related technology. Sequencing was performed on the extracted exosomal ribonucleic acids (RNAs) to identify differential microRNAs. Verification of the results involved selecting relevant samples from the genetic database. The study successfully pinpointed a potential marker for early screening, hsa-miR-328-3p + hsa-miR-200c-3p carried by peripheral blood exosomes. Enrichment analysis of target genes revealed associations with intercellular junctions, impaired cytoskeletal regulation, and increased fibroblast proliferation, leading to bilateral internal carotid artery neointimal expansion and progressive stenosis. These findings establish the diagnostic value of hsa-miR-328-3p+hsa-miR-200c-3p in screening moyamoya disease, while also contributing to a deeper understanding of its underlying pathophysiology. Significant differences in microRNA expressions derived from peripheral blood exosomes were observed between moyamoya disease patients and control subjects. Consequently, the utilization of peripheral blood exosomes, specifically hsa-miR-328-3p + hsa-miR-200c-3p, holds potential for diagnostic screening purposes.

Abstract Backgrounds Persistent trigeminal artery (PTA) is a rare anastomosis between internal carotid artery (ICA) and basilar artery. In rare conditions, the PTA could be combined with others cerebrovascular anomalies, moyamoya disease (MMD) is one of them. Case presentation Here, we reported one rare case of MMD associated with PTA, the patient admitted to our department for severe dizziness and headache, imaging examination suggested MMD combined with right PTA, which arising from the ipsilateral cavernous portion of ICA. The patient received phased bilaterral revascularization with no any complication. In the subsequent follow-up, the patient’s symptoms and intracranial vascular condition gradually improved. Moreover, we conducted a literature review of coexistence of PTA and MMD, the results of a web of science regarding such condition, and a deep discussion providing brief insight into the status of co-occurrence of PTA and MMD, including its manifestation, treatment and outcome. Conclusions The coexistence of PTA and MMD was rarely reported, the pathogenesis of such condition remains unknown. We found that the features of the coexistence of PTA and MMD were diverse, revascularization might be a feasible for such patient.

Abstract Background Dilated perivascular spaces (DPVS), known as one of imaging markers in cerebral small vessel disease, may be found in patients with moyamoya disease (MMD). However, little is known about DPVS in MMD. The purpose of this study was to investigate the distribution pattern of dPVS in children and adults with MMD and determine whether it is related to steno-occlusive changes of MMD. Methods DPVS was scored in basal ganglia (BG) and white matter (WM) on T2-weighted imaging, using a validated 4-point semi-quantitative score. The degree of dPVS was classified as high (score > 2) or low (score ≤ 2) grade. The steno-occlusive changes on MR angiography (MRA) was scored using a validated MRA grading. Asymmetry of DPVS and MRA grading was defined as a difference of 1 grade or higher between hemispheres. Results Fifty-one patients with MMD (mean age 24.9 ± 21.1 years) were included. Forty-five (88.2%) patients had high WM-DPVS grade (degree 3 or 4). BG-DPVS was found in 72.5% of all patients and all were low grade (degree 1 or 2). The distribution patterns of DPVS degree in BG (P = 1.000) and WM (P = 0.767) were not different between child and adult groups. The asymmetry of WM-DPVS (26%) and MRA grade (42%) were significantly correlated to each other (Kendall’s tau-b = 0.604, P

Recently, thyroid autoantibodies were found to be associated with moyamoya disease (MMD). The ring finger protein 213 (RNF213) p.R4810K variant represents the most important susceptibility genotype of this disease, but its relationship with thyroid autoantibodies remains to be elucidated. Thus, in this study, we aimed to evaluate the clinical relevance of thyroid autoantibodies in each RNF213 genotype in patients with MMD. Included in this study were patients with MMD without a thyroid disease history and in euthyroid status; they were then classified into the mutated or nonmutated based on the RNF213 p.R4810K genotype and positive or negative based on thyroid autoantibody (thyroperoxidase and thyroglobulin) levels. Clinical data of each group were thereafter evaluated. Among the 209 patients, the mutated RNF213 p.R4810K variant and positive thyroid autoantibodies were detected in 155 and 41 patients, respectively. Positive thyroid autoantibodies were found to be more common in the nonmutated patients than in the mutated patients (31.5% vs. 15.5%; P = 0.011). In the mutated patients, as compared to autoantibody-negative patients, autoantibody-positive patients were determined to be more likely to have advanced disease with posterior cerebral artery involvement (54.2% vs. 29.0%; P = 0.017), white matter infarction (58.3% vs. 37.6%; P = 0.046), and a higher modified Rankin Scale at last visit (16.7% vs. 3.1%; P = 0.021). These results suggest that thyroid autoantibodies can act as an immunity inducer in patients with MMD lacking the susceptibility gene RNF213 p.R4810K variant. Moreover, the simultaneous presence of thyroid autoantibodies and the variant seems to aggravate the disease, which indicates synergy between thyroid autoantibodies and the variant.

Abstract Background Moyamoya disease (MMD) has attracted the attention of scholars because of its rarity and unknown etiology. Methods Data for this study were sourced from the Second Affiliated Hospital of Nanchang University. Regression analyses were conducted to examine the association in Lipoprotein [Lp(a)] and MMD. R and IBM SPSS were conducted. Results A cohort comprising 1012 MMD patients and 2024 controls was established through the propensity score matching method. Compared with controls, MMD patients showed higher median Lp(a) concentrations [18.5 (9.6–37.8) mg/dL vs. 14.9 (7.8–30.5) mg/dL, P

Intracranial arterial disease (ICAD) is a heterogeneous condition characterized by distinct pathologies, including atherosclerosis. Advances in magnetic resonance technology have enabled the visualization of intracranial arteries using high-resolution vessel wall imaging (HR-VWI). This review summarizes the anatomical, embryological, and histological differences between the intracranial and extracranial arteries. Next, we review the heterogeneous pathophysiology of ICAD, including atherosclerosis, moyamoya or RNF213 spectrum disease, intracranial dissection, and vasculitis. We also discuss how advances in HR-VWI can be used to differentiate ICAD etiologies. We emphasize that one should consider clinical presentation and timing of imaging in the absence of pathology-radiology correlation data. Future research should focus on understanding the temporal profile of HR-VWI findings and developing quantitative interpretative approaches to improve the decision-making and management of ICAD.

Moyamoya disease (MMD) is a chronic progressive steno-occlusive disease of the intracranial arterial vessels and their branches characterized by puff smoke appearance on angiography. Multifocal neurological insults and deficits are commonly observed in children with MMD. A 7-year-old boy presented with multiple episodes of transient hemiparesis preceded by headache, vomiting, and visual auras was initially labeled as sporadic hemiplegic migraine according to the International Headache Society criteria. However, the rare association of hemiplegic migraine with MMD compelled us to perform magnetic resonance imaging and digital subtraction angiography, which revealed MMD as the underlying cause for the alternating hemiplegia and headaches in the child. [ABSTRACT FROM AUTHOR]

Abstract Background Moyamoya disease (MMD) is a cerebrovascular disorder characterized by progressive unilateral or bilateral stenosis of the distal internal carotid artery. As hemodynamic features in MMD patients alter, the comorbidity of intracranial aneurysm (IA) is sometimes observed clinically. We aim to investigate clinical characteristics and therapeutic strategies for the comorbidity of Moyamoya disease with intracranial aneurysms (MMD-IA). Methods A total of 13 MMD-IA patients were recruited in this study and were manifested to be intracranial hemorrhage. We reviewed the surgical technique notes for all patients. Results According to the locations of an aneurysm, MMD-IA could be divided into several categories: (1) MMD-IA at a circle of Willis—aneurysms usually located at the trunk of Willis circle; (2) MMD-IA at collateral anastomosis—aneurysms located at the distal end of collateral anastomosis; and (3) MMA-IA at basal ganglia region. In this report, aneurysms in 10 patients located at Willis circle, 2 at the pericallosal artery, and 1 at the basal ganglia region. Among them, endovascular embolism was performed among 5 patients. Aneurysm clipping was conducted among 7 patients. A patient with an aneurysm at the basal ganglia region just accepted revascularization treatment. All the treatments were successful. Follow-up studies, ranging from 6 to 24 months, demonstrated all patients received satisfactory curative effects. Conclusion Diverse clinical presentations could be observed among MMD-IA patients. Individualized neurosurgical treatments should be chosen according to the locations of the aneurysm.

Abstract Background Moyamoya disease (MMD) is a cerebrovascular disease with unknown cause. Patients with MMD disease usually experience transient neurological events (TNEs) after revascularization surgery. This retrospective single-center study was aimed to explore the risk factors of postoperative TNEs after surgical revascularization in patients with MMD. Methods We selected 324 patients who underwent surgical revascularization between January 2017 and September 2022 in our center. The perioperative characteristics of the patients were recorded and the outcome was TNEs after surgery. An analysis of risk factors contributing to postoperative TNEs by using logistic regression model. Results Three hundred twelve patients were enrolled, and the incidence of postoperative TNEs was 34% in our study. Males were more likely to suffer from postoperative TNEs (OR = 2.344, p = 0.002). Preoperative ischemic presentation (OR = 1.849, p = 0.048) and intraoperative hypotension (OR = 2.332, p = 0.002) were associated with postoperative TNEs. Compared to patients with blood type O, patients with blood type A (OR = 2.325, p = 0.028), B (OR = 2.239, p = 0.027) and AB (OR = 2.938, p = 0.019) had a significantly higher incidence of postoperative TNEs. A risk prediction model for postoperative TNEs was established, and the established risk prediction area under the receiver operating characteristic curve (ROC) of the model was 0.741. Conclusions Males, preoperative ischemic presentation and intraoperative hypotension were associated with postoperative TNEs. We also found a possible link between postoperative TNEs and ABO blood types after surgical revascularization for moyamoya patients.

There have been a number of anastomosis methods of bypass techniques reported for moyamoya disease. However, there are yet no randomized controlled trials conducted on the anastomosis method. Retrograde blood flow of the superficial temporal artery (STA) may be used as one of the donor options. Here, we examined the tolerability of retrograde bypass using a distal stump of the parietal STA (dsPSTA). Anastomosis between the dsPSTA and middle cerebral artery (MCA) was performed for consecutive patients with moyamoya disease whose parietal STA was visualized to be longer than 10 cm using contrast-enhanced computed tomography preoperatively. Retrospectively, we have examined its patency and clinical outcome. Retrograde dsPSTA-MCA bypass was performed in 22 hemispheres of 17 patients. The patency of retrograde dsPSTA-MCA bypass in all 22 anastomoses could be confirmed during follow-up periods (mean: 5.5, range: 2-15 years). No recurrence of ischemic events was observed. The dsPSTA-MCA bypass using retrograde blood flow has been determined as one of the many promising anastomosis methods, and long-term patency was achieved in moyamoya disease.

Background Moyamoya disease (MMD) is a rare cerebrovascular disease radiologically characterized by progressive bilateral occlusion of the distal portion of the internal carotid artery and compensating collaterals. Herein, we report a case of medullary infarction in a patient with MMD. Case Report We present the case of a 54-year-old male with hypertension, hyperlipidemia, and unstable angina with sudden onset dysarthria and ataxia. Diffusion-weighted and T2-weighted images of magnetic resonance imaging showed a high-signal intensity lesion on the right lateral medulla, suggestive of acute infarction. Transfemoral cerebral angiography also demonstrated bilateral middle cerebral artery (MCA) occlusion. Testing of the ring finger protein 213 (RNF213) gene revealed a homozygous p.R4810K variant that was possibly associated with posterior circulation involvement. Conclusion When the MCA is occluded in MMD, there is a possibility that medullary infarction may occur due to the mechanism of increased hemodynamic stress on the anastomotic posterior vessels.

Alexei Antonov,1,&ast; Anthony Terraciano,1,&ast; Muhammed Amir Essibayi,2,3 Kainaat Javed,2 David J Altschul2,3 1Albert Einstein College of Medicine, Bronx, NY, USA; 2Department of Neurosurgery, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, USA; 3Montefiore-Einstein Cerebrovascular Research Lab, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, USA&ast;These authors contributed equally to this workCorrespondence: David J Altschul, Department of Neurological Surgery, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, 10467, USA, Email daltschu@montefiore.orgAbstract: Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by the progressive narrowing and occlusion of the intracranial internal carotid arteries, leading to the formation of abnormal collateral vessels. MMD primarily affects the cerebrovascular system, and evidence suggests it is associated with various neuropsychiatric outcomes. This manuscript aims to provide an overview of the current understanding of MMD, including its epidemiology, pathophysiology, clinical manifestations, and diagnosis. Furthermore, it explores the emerging research on the neuropsychiatric sequelae of MMD, such as cognitive impairment, psychiatric disorders, and quality of life. The manuscript concludes with the challenges in managing MMD-related neuropsychiatric outcomes and potential avenues for future research.Keywords: moyamoya disease, neuropsychiatric outcomes, cerebrovascular disorder, cognitive impairment, psychiatric disorders

Moyamoya disease etiology is an undetermined vasculopathy and is mainly thought to affect the Internal Carotid Artery and Wills circle. An 8-month-old patient without any underlying disease was referred to our hospital with sudden extreme right hemiparesis. There was no evidence of meningeal irritation in the neurological examination, decreased tonus on the right side, strength in the upper right extremity 3/5 and strength in the lower right extremity 2/5, deep tendon reflexes were exaggerated. Cranial brain tomography angiography showed in both distal internal cerebral arteries and branches and a significantly curvy appearance, with similar changes present in the veins forming the Willis circle. Low molecular weight heparin, acetylsalicylic acid, and levetiracetam were started. On the fifth day of follow-up, motor activity in the lower right extremity returned to normal. The power loss of 2/5 in the upper right extremity was continuing. The patient was then transferred to a center with Moyamoya surgery, which may be needed. This case highlights the importance of considering Moyamoya disease as a classical etiologies of acute ischemic strokes in children. It also highlights the rare presentation among the Turkish population and the use of neurovascular imaging techniques to facilitate the diagnosis of Moyamoya diseas

Cerebrovascular reactivity (CVR) reflects the CBF change to meet different physiological demands. The reference CVR technique is PET imaging with vasodilators but is inaccessible to most patients. DSC can measure transit time to evaluate patients suspected of stroke, but the use of gadolinium may cause side-effects. Arterial spin labeling (ASL) is a non-invasive MRI technique for CBF measurements. Here, we investigate the effectiveness of ASL with single and multiple post labeling delays (PLD) to replace PET and DSC for CVR and transit time mapping in 26 Moyamoya patients. Images were collected using simultaneous PET/MRI with acetazolamide. CVR, CBF, arterial transit time (ATT), and time-to-maximum (Tmax) were measured in different flow territories. Results showed that CVR was lower in occluded regions than normal regions (by 68 ± 12%, 52 ± 5%, and 56 ± 9%, for PET, single- and multi-PLD PCASL, respectively, all p  0.35, p

ObjectiveHealthcare disparities are widely described in adults, but barriers affecting access to care for pediatric patients with moyamoya disease (MMD) are unknown. Understanding socioeconomic factors impacting hospital access and outcomes is necessary to address pediatric healthcare disparities.MethodsIn this cross-sectional observational study, the Kids' Inpatient Database was used to identify patients admitted with a primary diagnosis of MMD from 2003 to 2016. Patients ≤ 18 years with a primary diagnosis of MMD based on International Classification of Diseases (ICD) codes were included. Hospital admissions were queried for use of cerebral revascularization based on ICD procedure codes.ResultsQuery of the KID yielded 1449 MMD hospitalizations. After multivariable regression, Hispanic ethnicity (OR 0.52 [95% CI 0.33-0.81], p = 0.004) was associated with lack of surgical revascularization. Private insurance (OR 1.56 [95% CI 1.15-2.13], p = 0.004), admissions at medium- and high-volume centers (OR 2.01 [95% CI 1.42-2.83], p < 0.001 and OR 2.84 [95% CI 1.95-4.14], p < 0.001, respectively), and elective hospitalization (OR 3.37 [95% CI 2.46-4.64], p < 0.001) were positively associated with revascularization. Compared with Caucasian race, Hispanic ethnicity was associated with increased mean (± SEM) length of stay by 2.01 ± 0.70 days (p = 0.004) and increased hospital charges by $24,333.61 ± $7918.20 (p = 0.002), despite the decreased utilization of surgical revascularization. Private insurance was associated with elective admission (OR 1.50 [95% CI 1.10-2.05], p = 0.01) and admission to high-volume centers (OR 1.90 [95% CI 1.26-2.88], p = 0.002). African American race was associated with the development of in-hospital complications (OR 2.52 [95% CI 1.38-4.59], p = 0.003).ConclusionsAmong pediatric MMD hospitalizations, multiple socioeconomic factors were associated with access to care, whether surgical treatment is provided, and whether in-hospital complications occur. These results suggest that socioeconomic factors are important drivers of healthcare disparities in children with MMD and warrant further study.

This case report details the pathological findings of a vessel wall identified as the bleeding point for intracranial hemorrhage associated with Moyamoya disease. A 29-year-old woman experienced intracranial hemorrhage unrelated to hyperperfusion following superficial temporal artery-middle cerebral artery bypass surgery. A pseudoaneurysm on the lenticulostriate artery (LSA) was identified as the causative vessel and subsequently excised. Examination of the excised pseudoaneurysm revealed a fragment of the LSA, with a disrupted internal elastic lamina and media degeneration. These pathological findings in a perforating artery, akin to the circle of Willis, provide insights into the underlying mechanisms of hemorrhage in Moyamoya disease. [ABSTRACT FROM AUTHOR]

Objective: Metabolomics has found extensive applications in the field of neurological diseases, significantly contributing to their diagnosis and treatment. However, there has been limited research applying metabolomics to moyamoya disease (MMD). This study aims to investigate and identify differentialmetabolites associated with MMD. Methods: We employed a liquid chromatography coupled with mass spectrometry (LC-MS) approach, complemented by univariate and multivariate analyses, to discern metabolic biomarkers in cerebrospinal fluid samples. We then compared these biomarkers between MMD patients and healthy controls (Ctl). Results: Sixteen patients diagnosed with MMD via cerebral angiography and eight healthy controls were enrolled in this study. Comparative analyses, including univariate and multivariate analyses, correlation studies, heatmaps, Volcano Plots, and KEGG pathway enrichment, were performed between MMD patients and controls. As a result, we identified 129 significant differential metabolites in the cerebrospinal fluid between MMD patients and controls. These metabolic biomarkers are associated with various pathways, with notable involvement in purine and pyrimidine metabolism. Conclusion: Utilizing an LC-MS-based metabolomics approach holds promise for enhancing the clinical diagnosis of MMD. The identified biomarkers offer potential avenues for the development of novel diagnostic methods for MMD and offer fresh insights into the pathogenesis of the disease. [ABSTRACT FROM AUTHOR]

Background: Moyamoya disease (MMD) is a rare and complex cerebrovascular disorder characterized by the progressive narrowing of the internal carotid arteries and the formation of compensatory collateral vessels. The etiology of MMD remains enigmatic, making diagnosis and management challenging. The MOYAOMICS project was initiated to investigate the molecular underpinnings of MMD and explore potential diagnostic and therapeutic strategies. Methods: The MOYAOMICS project employs a multidisciplinary approach, integrating various omics technologies, including genomics, transcriptomics, proteomics, and metabolomics, to comprehensively examine the molecular signatures associated with MMD pathogenesis. Additionally, we will investigate the potential influence of gut microbiota and brain-gut peptides on MMD development, assessing their suitability as targets for therapeutic strategies and dietary interventions. Radiomics, a specialized field in medical imaging, is utilized to analyze neuroimaging data for early detection and characterization of MMD-related brain changes. Deep learning algorithms are employed to differentiate MMD from other conditions, automating the diagnostic process. We also employ single-cellomics and mass cytometry to precisely study cellular heterogeneity in peripheral blood samples from MMD patients. Conclusions: The MOYAOMICS project represents a significant step toward comprehending MMD's molecular underpinnings. This multidisciplinary approach has the potential to revolutionize early diagnosis, patient stratification, and the development of targeted therapies for MMD. The identification of blood-based biomarkers and the integration of multiple omics data are critical for improving the clinical management of MMD and enhancing patient outcomes for this complex disease. [ABSTRACT FROM AUTHOR]

For patients with moyamoya disease, antiplatelet agents are often used during the perioperative periods of revascularization surgeries to prevent ischemic events. However, antiplatelet therapy is associated with the risk of hemorrhagic complications. Further, the influence of antiplatelet therapy on perioperative ischemic or hemorrhagic complications has not been investigated. This study aimed to determine the impact of antiplatelet agents on adult moyamoya disease patients with ischemic onset during the perioperative period. From January 2016 to December 2020, 183 consecutive combined (direct and indirect) revascularization surgeries for moyamoya disease patients were performed. Among these surgeries, 96 consecutive combined revascularization surgeries for adult moyamoya disease patients with ischemic onset were analyzed and perioperative ischemic and hemorrhagic complications were reviewed. Antiplatelet agents were continued during the perioperative period including on the day of surgery and the day after the surgery. Among 96 surgeries, no hemorrhagic complications occurred postoperatively. Infarction occurred in five cases (5.2%). Among the five cases, neurological deficits persisted in two cases and improved in three. The median value of bleeding volume was 112.5 mL (interquartile range, 80.0– 200.0). Twenty-five cases (26.0%) needed blood transfusion. The modified Rankin Scale score deteriorated in two cases due to cerebral infarction. The incidence of hemorrhagic and ischemic complications after combined revascularization surgery in patients with ischemic moyamoya disease under antiplatelet therapy was low, indicating the safety of continued antiplatelet therapy. [ABSTRACT FROM AUTHOR]

Backgrounds: Persistent trigeminal artery (PTA) is a rare anastomosis between internal carotid artery (ICA) and basilar artery. In rare conditions, the PTA could be combined with others cerebrovascular anomalies, moyamoya disease (MMD) is one of them. Case presentation: Here, we reported one rare case of MMD associated with PTA, the patient admitted to our department for severe dizziness and headache, imaging examination suggested MMD combined with right PTA, which arising from the ipsilateral cavernous portion of ICA. The patient received phased bilaterral revascularization with no any complication. In the subsequent follow-up, the patient's symptoms and intracranial vascular condition gradually improved. Moreover, we conducted a literature review of coexistence of PTA and MMD, the results of a web of science regarding such condition, and a deep discussion providing brief insight into the status of co-occurrence of PTA and MMD, including its manifestation, treatment and outcome. Conclusions: The coexistence of PTA and MMD was rarely reported, the pathogenesis of such condition remains unknown. We found that the features of the coexistence of PTA and MMD were diverse, revascularization might be a feasible for such patient. [ABSTRACT FROM AUTHOR]

Background: Moyamoya disease (MMD) has attracted the attention of scholars because of its rarity and unknown etiology. Methods: Data for this study were sourced from the Second Affiliated Hospital of Nanchang University. Regression analyses were conducted to examine the association in Lipoprotein [Lp(a)] and MMD. R and IBM SPSS were conducted. Results: A cohort comprising 1012 MMD patients and 2024 controls was established through the propensity score matching method. Compared with controls, MMD patients showed higher median Lp(a) concentrations [18.5 (9.6–37.8) mg/dL vs. 14.9 (7.8–30.5) mg/dL, P < 0.001]. The odds ratios and 95% confidence intervals for Lp(a) were calculated in three models: unadjusted model, model 1 (adjusted for body mass index and systolic blood pressure), and model 2 (adjusted for model 1 plus triglyceride, C-reactive protein, homocysteine, and low-density lipoprotein cholesterol). Results were [1.613 (1.299–2.002), P < 0.001], [1.598 (1.286–1.986), P < 0.001], and [1.661 (1.330–2.074), P < 0.001], respectively. Furthermore, age, sex, or hypertension status had nothing to do with this relationship. Conclusions: Positive relationship exists between Lp(a) and MMD. [ABSTRACT FROM AUTHOR]

Bypass revascularization helps prevent complications in Moyamoya Disease (MMD). To systematically review complications associated with combined direct and indirect (CB) bypass in MMD and analyze differences between the adult and pediatric populations. A systematic literature review was conducted per PRISMA guidelines. PUBMED, Cochrane Library, Web of Science, and CINAHL, were queried from January 1980 to March 2022. Complications were defined as any event in the immediate post-surgical period of a minimum 3 months follow-up. Exclusion criteria included lack of surgical complication reports, non-English articles, and CB unspecified or reported separately. 18 final studies were included of 1580 procured. 1151 patients (per study range = 10—150, mean = 63.9) were analyzed. 9 (50.0%) studies included pediatric patients. There were 32 total hemorrhagic, 74 total ischemic and 16 total seizure complications, resulting in a rate of 0.04 (95% CI 0.03, 0.06), 0.7 (95% CI 0.04, 0.10) and 0.03 (95% CI 0.02, 0.05), respectively. The rate of hemorrhagic complications in the pediatric showed no significant difference from the adult subgroup (0.03 (95% CI 0.01—0.08) vs. 0.06 (95% CI 0.04—0.10, p = 0.19), such as the rate of ischemic complications (0.12 (95% CI 0.07—0.23) vs. 0.09 (95% CI 0.05—0.14, p = 0.40). Ischemia is the most common complication in CB for MMD. Pediatric patients had similar hemorrhagic and ischemic complication rates compared to adults. [ABSTRACT FROM AUTHOR]

Background: Cognitive impairment, and in the long term Alzheimer's disease, vascular, or mixed dementia, are potential complications of moyamoya disease (MMD), of which the prevalence and associations are not well established. Objective: We performed a systematic review and meta-analysis to investigate the prevalence of cognitive impairment in adult patients with MMD as well as its clinical and demographic correlates. Methods: We performed a systematic search of four electronic databases: PubMed (MEDLINE), EMBASE, Scopus, and Cochrane Library, profiling studies from inception until 7 May 2023. Clinical data consisting of population characteristics, comorbidities, cognitive assessment tools used, and prevalence of cognitive impairment was extracted. Results: Seventeen studies were included in the meta-analysis, with a total study population of 1,190 patients. All studies assessed cognition, and the overall prevalence of cognitive impairment in MMD patients was 54.59%. A subgroup analysis identified that the prevalence of executive dysfunction in MMD patients was 31.55%. We performed a meta-regression analysis which identified that cognitive impairment was not associated with age, education level, or a history of ischemic or hemorrhagic stroke. Conclusions: A substantial proportion of MMD patients have cognitive impairment, and cognitive impairment was found to have no association with a history of stroke. Further research is necessary to investigate the longitudinal relationship of MMD and cognitive impairment, and the impact of bypass surgery on cognitive impairment. [ABSTRACT FROM AUTHOR]