Neuronal Loss in the Bilateral Medial Frontal Lobe Revealed by 123I-iomazenil Single-photon Emission Computed Tomography in Patients with Moyamoya Disease: The First Report from Cognitive Dysfunction Survey of Japanese Patients with Moyamoya Disease (COSMO-Japan Study).

Cognitive impairment in adult patients with moyamoya disease (MMD) is sometimes overlooked and can occur in patients with no ischemic or hemorrhagic lesions. Better profiling and reliable diagnostic methods that characterize the group and associate the impairments and pathology of MMD are required in order to deliver appropriate treatments and support. The potential of 123I-iomazenil single-photon emission computed tomography (SPECT) for this issue has been reported in some studies, but the universality of this method remains unclear. A multicenter study of adult patients (aged 18-60 years) with MMD who experienced difficulties in social lives despite normal activities of daily living was implemented to delineate the common characteristics of this group of patients. In this study, iomazenil SPECT, besides patient characteristics, cognitive functions, and conventional imaging, was acquired to examine whether this method is suitable as a universal diagnostic tool. A total of 36 patients from 12 institutes in Japan were included in this study. Domain scores of world health organization quality of life 26 indicated low self-rating in physical health and psychological domains. The percentages of patients who had <85 in each index were 27.8%-33.3% in the WAIS-III and 16.7%-47.2% in the Wechsler Memory Scale-Revised. The group analysis of iomazenil SPECT demonstrated a decreased accumulation in the bilateral medial frontal areas in comparison with the normal control, whereas there were no specific characteristics on conventional imaging in the cohort. Iomazenil SPECT is a possible universal diagnostic method for the extraction of patients with cognitive impairment in MMD.

The effect of dilated cardiomyopathy with moyamoya disease in a 31-year-old Chinese man: A case report.

BACKGROUND: Dilated cardiomyopathy (DCM) is a clinically common and refractory disease; however, few cases of dilated cardiomyopathy have been reported in patients with moyamoya diseases treated by combining traditional Chinese Medicine (TCM) and Western medicine, which has a higher risk of rehabilitation. CASE SUMMARY: A 31-year-old man was admitted due to paroxysmal chest tightness and shortness of breath. He denied a history of DCM, hypertension, diabetes, pericarditis, smoking, and alcohol consumption. On admission, his transesophageal echocardiography (Fig. 1A) showed the larger heart with poor myocardial systolic function (left ventricular end diastolic diameter [LVEDd] 60 mm, left ventricular ejection fraction [LVEF] 38% [Teich]). On day 14 of admission, heart-related indicators were better than before. CONCLUSION: The present case is the first report demonstrating appearance the dilated cardiomyopathy (DCM) and moyamoya disease simultaneously in a 31-year-old Chinese man, aimed to report the treatment of such patients using a combination of TCM and Western medicine and analyzing the necessity and advantages of using this treatment for patients suffering from DCM and moyamoya disease, so as to improve the level of clinical diagnosis and treatment of such diseases.

Macrohistory of Moyamoya Disease Analyzed Using Artificial Intelligence.

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.

Deep Brain Stimulation and Thalamotomy for the Treatment of Dystonia Acquired by Moyamoya Disease with Stroke.

Background: Moyamoya disease (MMD) is a type of chronic cerebrovascular disease. Currently, revascularization surgery including direct/indirect procedure is recommended for symptomatic patients. However, some patients still respond poorly to the treatment or develop secondary symptoms. Case report: We report the first case of an MMD patient treated with deep brain stimulation (DBS) and thalamotomy. Symptoms of dystonia due to hemorrhage in the thalamus responded poorly to revascularization surgery, but were considerably alleviated by stereotactic neurosurgery. Discussion: Our case report provides a potential strategy for management of refractory symptomatic MMD patients with dystonia and also supports the combined efficacy of DBS with thalamotomies. Highlights: Approximately 30% of patients with Moyamoya disease (MMD) presenting movement symptoms do not respond well to revascularization surgery. We reported an MMD patient treated with deep brain stimulation (DBS) and thalamotomy with significant dystonia and dystonic tremor symptom amelioration. It indicates that DBS or stereotactic lesioning might be a potential treatment for the refractory movement symptoms of MMD.

Moyamoya Presenting after Whole Body Cryotherapy.

BACKGROUND PURPOSE: Moyamoya syndrome is the progressive stenosis of intracranial carotids with secondary collateralization. Whole body cryotherapy (WBC) involves external cooling and is used in holistic and sports medicine, its neurologic effects are unknown. CASE REPORT: We report a first case of symptoms of moyamoya syndrome presenting following WBC and diagnosed with classic MRI ( "Brush Sign", "Ivy sign") and digital subtracted angiography. CONCLUSION: WBC may provoke symptoms of moyamoya syndrome possibly through hyperventilation or vasoconstriction. Practitioners should be aware of possible consequences of WBC in patients with poor cerebrovascular reserve.

Transcallosal, transchoroidal clipping of a hypothalamic collateral vessel aneurysm in Moyamoya disease.

Peripheral collateral vessel aneurysms in Moyamoya disease (MMD) remain difficult to treat due to their deep location, small size, and vascular fragility. We report the case of an aneurysm localized in the hypothalamus, which was rapidly increasing in size with repeated hemorrhage despite revascularization surgery. Aneurysm clipping was performed to prevent further progress and rerupture with favorable outcome. To our best knowledge, this is the first description of a hypothalamic aneurysm in MMD being clipped via a transcallosal, transchoroidal approach through the third ventricle.

Reversible Cerebral Angiopathy after Viral Infection in a Pediatric Patient with Genetic Variant of RNF213.

Ring finger protein (RNF) 213 is known as a susceptibility gene for moyamoya disease (MMD), which is characterized by bilateral carotid folk stenosis. Cerebral angiopathy after viral infection has been known to present angiographical appearance resembling MMD, however its pathogenesis and genetic background are not well known. We report a case of reversible cerebral angiopathy after viral infection in a pediatric patient with genetic variant of RNF213 mutation. The patient had developed a severe headache after hand, foot, and mouth disease. Magnetic resonance imaging and magnetic resonance angiography (MRA) performed 2-3 weeks after disease onset revealed bilateral carotid folk stenosis and an old cerebral infarction in the left putamen. The patient's headache spontaneously resolved and the follow-up MRA showed a complete spontaneous resolution of the arterial stenosis after 9 months. We were able to determine genetic predisposition to angiopathy by identifying the RNF213 c.14576G>A (rs112735431, p.R4859K) mutation. Based on the present case, we hypothesize that an RNF213 variant might play an important role for the onset of postviral cerebral angiopathy.

Blood Oxygen Level-Dependent Response Changes in the Ipsilateral Primary Somatosensory Cortex and Thalamus of Patients With Moyamoya Disease During Median Nerve Electrical Stimulation.

OBJECTIVE: The objective of this study was to investigate the changes in the blood oxygen level-dependent (BOLD) response in the ipsilateral primary somatosensory cortex (SI) and thalamus of patients with moyamoya disease (MMD) during sensory stimulation. METHODS: Sixty-four MMD patients, and 15 healthy volunteers were enrolled. Thirty-three MMD patients exhibited paroxysmal numbness or hypoesthesia in the unilateral limbs. Fifteen patients with acroparesthesia underwent unilateral encephaloduroarteriosynangiosis (EDAS). All volunteers underwent BOLD functional magnetic resonance imaging (BOLD-fMRI) under median nerve electrical stimulation (MNES). Blood oxygen level-dependent fMRI data were processed to obtain time-signal intensity curves in the activation areas of the bilateral SI and thalamus. Processed dynamic susceptibility contrast-enhanced magnetic resonance imaging data were used to measure the time to peak of the BOLD response in the regions of interest, including the bilateral SI, thalamus, and cerebellum. Changes in the time-signal intensity curve-related hemodynamic parameters in the ipsilateral SI and thalamus were examined between healthy controls, nonacroparesthesia patients, and asymptomatic and symptomatic sides of unilateral acroparesthesia patients during MNES. Changes in these parameters in MMD patients before and after EDAS were examined. RESULTS: Compared with healthy volunteers, 3 groups of MMD patients exhibited an increased peak of the positive BOLD response in the ipsilateral thalamus during MNES (0.65 ± 0.24 vs 0.79 ± 0.35, 0.94 ± 0.57, and 0.89 ± 0.50; P = 0.0335). The positive response peak in the ipsilateral SI markedly increased in MMD patients with acroparesthesia during MNES on the asymptomatic side (0.56 ± 0.37 vs 0.38 ± 0.27, P = 0.0243). The time to peak negative response in the ipsilateral SI was prolonged during MNES on the symptomatic side after EDAS (12.14 ± 8.90 seconds vs 18.86 ± 9.20 seconds, P = 0.0201). CONCLUSIONS: During sensory stimulation treatment, BOLD response changes occurred in the ipsilateral SI and thalamus of MMD patients. These changes enabled the contralateral hemisphere of the brain to better deal with sensory stimuli.

Characteristics of Moyamoya Disease Based on National Registry Data in Japan.

Background and Purpose- A public registration system for intractable diseases was started in Japan in 1972 to investigate the etiology and pathogenesis of intractable diseases while reducing out-of-pocket medical expenses on patients. The goal of this study was to investigate the epidemiology and clinical characteristics of Moyamoya disease using data from applications submitted to this system between 2004 and 2008. Methods- In addition to demographic factors such as onset age and family history, we evaluated clinical presentation type, imaging findings, clinical symptoms, and functioning in activities of daily living (ADL). Results- Of 3859 cases for which applications were submitted, 2545 were confirmed to meet the diagnostic criteria after data cleansing. Onset age showed a bimodal distribution, and Moyamoya disease had a higher incidence in women than in men. The presence of occlusion and infarction in the proximal region of the anterior cerebral artery was more frequent in pediatric cases than adult cases. Our findings also indicated that 23% of patients required assistance with ADL. Cerebral infarction (odds ratio [OR], 12.5; 95% CI, 3.55-44.66), seizure (OR, 7.44; 95% CI, 1.29-42.96), and sensory disorders (OR, 5.23; 95% CI, 1.15-23.75) were identified as significant predictors of impaired ADL in pediatric cases 3 years after the initial application. Moderate ADL function (OR, 11.59; 95% CI, 5.29-25.39) and intellectual disabilities (OR, 4.38; 95% CI, 1.58-12.17) at the time of the application were identified as significant prognostic factors in adults. Conclusions- The results of this study indicated that characteristics of Moyamoya disease such as onset type, symptoms, and imaging abnormalities differ with onset age. Prognostic analyses suggested that pediatric cases with good ADL but with infarct type onset, seizure, or sensory disorders might have a subsequent decline in ADL.

Radioactive Iodine Therapy in Papillary Thyroid Carcinoma with Moyamoya Disease

@#Papillary thyroid carcinoma is the most common histological subtyoe if thyroid carcinoma. Management is surgical with post-operative radioodine therapy to ablate thyroid tissue remnants. Although the mangement of uncomplicated papillary thyroid carcinoma is well established,treatment of patients also affected with Moyamoya disease is limitedly describe. Theare are concerns with regards to doing radioactive iodine therapy, which might affect the seased arteries in Moyamoya disease. We report a case of a 36-year-old male with Moyamoya disease, who was subsequently diagnosed to have papillary thyroid carcinoma. After total thyroidectory, the patient underwent radioactive iodine therapy with 5.7 GBq (155.0 mCi). Post-oblation scan with SPECT of the pelvis-showed functional thyroid tissue remnants in the lower anterior neck with suspicious tracer-avid focus in the sacrum. There were no complications such as radiation-induced arteritis encountered with the patient's MOyamoya disease during post-operative high-dose radiooidine ablation and no subjective complaints even on follow-up after almost one year.

A Case of Acute Cerebral Infarction and Thyroid Storm Associated with Moyamoya Disease

Coexistence of moyamoya disease and Graves' disease is rare. A 41-year-old woman presented with symptoms of left-sided hemiparesis and dysarthria. Magnetic resonance imaging and angiography revealed acute infarction of the right thalamus and occipital lobe with complete obstruction of the distal internal carotid arteries and obstruction of the right P2. Free thyroxine, thyroid-stimulating hormone (TSH), and TSH receptor antibody levels were 79.33 pmol/L, 0.007 uIU/mL, and 151.5 u/L, respectively. She received antiplatelet therapy and standard antithyroid drug dose. After admission, seizure and unexplained fever occurred. The thyroid storm score (Burch and Wartofsky scale) was 90 points. After intensive treatment, mental status and thyrotoxicosis-related symptoms ameliorated and vital signs stabilized. We describe a case of thyroid storm following cerebrovascular ischemic events in a Korean woman with moyamoya disease and Graves' disease. Thyroid storm combined with cerebrovascular events can lead to severe morbidity and mortality. Prompt recognition and strict management are crucial.

Moyamoya Disease Associated with Recurrent Right Thalamic Haemorrhage and Hydrocephalus: A Case Report.

Moyamoya disease, a rare chronic, progressive cerebrovascular disease leads to occlusion of intracranial internal carotid arteries and its proximal branches. We report a case of a 51-year-old female who presented with recurrent thalamic bleed and intraventricular haemorrhage nine years apart in the same territory. The first bleed was managed conservatively and second bleed led to development of hydrocephalus. The acute phase of the hydrocephalus was managed by external ventricular drainage and the final CSF diversion was managed by ventriculoperitoneal shunt. The definitive treatment could not be done to denial of consent from the patient. We present the case to highlight the role CSF diversion as a means of palliative treatment for the Moyamoya disease.

Incidence, prevalence, and survival of moyamoya disease in Korea: a nationwide, population-based study.

BACKGROUND AND PURPOSE: There is a scarcity of information on the epidemiology and natural course of moyamoya disease. The aim of this study was to investigate the nationwide epidemiological features of moyamoya disease in Korea, including incidence, prevalence, and survival. METHODS: We used the data from nationwide, population-based Health Insurance Review and Assessment Service claims database and Rare Intractable Disease registration program, which includes physician-certified diagnoses based on uniform criteria for moyamoya disease from 2007 to 2011. Age-specific incidence and prevalence were calculated, and survival was examined using Kaplan-Meier method. RESULTS: The total number of patients with moyamoya disease was 8154 in 2011, with a female-to-male ratio of 1.8. The incidence from 2007 to 2011 was 1.7 to 2.3/10(5), and the prevalence in 2011 was 16.1/10(5). In total, 66.3% of patients aged 0 to 14 years underwent surgery, whereas only 21.5% in the older than 15 years age group underwent surgery. The 1- and 5-year survival rates of adult patients were 96.9% and 92.9%, respectively, and of child patients were 99.6% and 99.3%, respectively. CONCLUSIONS: The prevalence and incidence presented in this study are higher than those in previous studies. This study demonstrates that the burden of moyamoya disease in Korea is substantial.

Arterial spin-labeling magnetic resonance imaging after revascularization of moyamoya disease.

Arterial spin labeling (ASL) magnetic resonance imaging (MRI) is a technique for depicting cerebral perfusion without contrast medium. The purpose of this study was to determine whether ASL can be used to detect hyperperfusion after revascularization for moyamoya disease as effectively as N-isopropyl-[123I]ß-iodoamphetamine ((123)I-IMP) single-photon emission computed tomography (SPECT). Fifteen consecutive patients with moyamoya disease were included in the study. All patients underwent surgical revascularization. Postoperatively, regional cerebral blood flow (rCBF) was measured by flow-sensitive alternating inversion recovery (FAIR) ASL and (123)I-IMP SPECT during the acute stage, and rCBF of the operative side was compared with the other side. The asymmetry ratio (AR) was then calculated from the rCBF as measured using each modality. The postoperative AR of ASL was moderately correlated with that of (123)I-IMP SPECT (y = 0.180x + 0.819; R = 0.80; P = .0003). In this series, 2 patients (13.3%) suffered symptomatic hyperperfusion after revascularization and accordingly exhibited increased AR of ASL. Our data indicate that early increases in rCBF in patients with hyperperfusion could be detected using FAIR ASL supplemental to (123)I-IMP SPECT after revascularization. Our data indicate that FAIR ASL is a convenient method for evaluating hyperperfusion that can be performed repeatedly without the use of contrast medium or radioisotopes.

Wisdom teeth extraction in a patient with moyamoya disease

Moyamoya disease is a rare neurovascular disorder that involves constriction of certain arteries in the brain. In patients with moyamoya disease, it is very important to prevent cerebral ischemic attacks and intracerebral bleeding caused by fluctuating blood pressure and increased respiration. A 40-year-old woman with moyamoya disease was scheduled for extraction of her right upper and lower impacted wisdom teeth. Her lower impacted wisdom tooth was situated close to the inferior alveolar nerve. We decided to continue her oral antiplatelet therapy and planned intravenous sedation with analgesic agents administered approximately five minutes prior to extraction of the root of the mandibular wisdom tooth. Oral analgesic medications were regularly administered postoperatively to alleviate pain and anxiety. During the perioperative period, no cerebrovascular event occurred, and the wisdom teeth were successfully extracted as per the planned procedure. It is thought that the perioperative risks of wisdom tooth extraction in patients with moyamoya disease can be minimized with the use of our protocols.

Disminución de la presión arterial en pacientes con arteriopatía periférica mediante el masaje reflejo del tejido conjuntivo / Decrease in blood pressure in patients with peripheral arterial disease by connective tissue reflex massage

Objetivos: Evaluar la eficacia del masaje reflejo del tejido conjuntivo en la presión arterial sistólica y diastólica en pacientes con enfermedad arterial periférica. Metodología: Participaron en el estudio 26 pacientes con enfermedad arterial periférica del Distrito Sanitario de Granada durante un período de intervención de 15 semanas. La muestra de estudio se dividió de forma aleatoria en grupo experimental y grupo control. Los criterios de exclusión fueron los siguientes: insuficiencia arterial periférica en estadios más avanzados, insuficiencia venosa periférica, insuficiencia cardíaca, renal o hepática. La variable independiente considerada ha sido la aplicación del masaje reflejo del tejido conjuntivo según el método de Elizabeth Dicke. Asimismo, la variable dependiente estudiada ha sido la evaluación de la presión arterial sistólica y diastólica en ambas extremidades superiores. Resultados: Se observan diferencias significativas entre la valoración basal y las valoraciones posbasales, entre los dos grupos de estudio, en la presión arterial diastólica derecha (basal, p<0,043; primera valoración, p<0,041; segunda valoración, p<0,047) y la presión arterial sistólica izquierda (basal, p<0,042; primera valoración, p<0,04; segunda valoración, p<0,049). Conclusiones: El masaje reflejo del tejido conjuntivo genera un descenso de la presión arterial en pacientes con enfermedad arterial periférica en estadio I(AU)

Aims: Evaluate the effectiveness of connective tissue reflex massage on systolic and diastolic blood pressure in patients with peripheral arterial disease. Methodology: Twenty-six patients with peripheral arterial disease from the Health District of Granada participated in the study during a 15-week intervention period. The study sample was randomly divided into an experimental group and a control group. Exclusion criteria were peripheral arterial insufficiency at more advanced stages, peripheral venous insufficiency, cardiac, renal or hepatic insufficiency. Application of the connective tissue reflex massage according to the method of Elizabeth Dicke was regarded as the independent variable. The dependent variable was evaluation of systolic and diastolic blood pressure in both upper limbs. Outcomes: Significant differences could be observed between the baseline and post-baseline evaluations between the two study groups in the right diastolic blood pressure (baseline, p<0.043; 1st evaluation, p<0.041; 2nd evaluation, p<0.047), and left systolic blood pressure (basal, p<0.042; 1st evaluation, p<0.04; 2nd evaluation, p<0.049). Conclusions: Connective tissue reflex massage causes a blood pressure decrease in patients with stage I peripheral arterial disease(AU)