Search Our Scientific Publications & Authors

Neurohospitalist 2021 Jul 10;11(3):251-254. Epub 2020 Dec 10.

Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

Moyamoya disease (MMD) is a rare, progressive occlusive disease characterized by bilateral internal carotid artery hypoplasia that often presents with ischemic stroke and intracerebral hemorrhage (ICH). Although MMD-related ICH is generally managed similarly to spontaneous ICH, we present a case in which standard management strategies may have led to an unprecedented devastating outcome. A 37-year-old female without any previous medical history presented with headache and right-sided weakness. Read More

BMC Neurol 2021 Jun 22;21(1):229. Epub 2021 Jun 22.

Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100070, China.

Background: Ischemic events are the most common postoperative complication in bypass surgery for moyamoya disease (MMD), but the risk factors for pediatric MMD remain unclear. The goal of the study was to investigate the risk factors for postoperative ischemic complications in pediatric MMD patients.

Methods: We retrospectively reviewed a consecutive series of pediatric MMD cases at Beijing Tiantan Hospital, Capital Medical University from June 2010 through June 2019. Read More

Childs Nerv Syst 2021 Jun 18. Epub 2021 Jun 18.

Graduated in Medicine, CESMAC University Center, Maceió, Alagoas, Brazil.

Introduction: Neural crest and mesoderm cell dysfunction of certain metameric level result in vascular malformations, i.e., cerebrofacial arteriovenous metameric syndrome (CAMS) and cerebrofacial venous metameric syndrome (CVMS). Read More

Arq Neuropsiquiatr 2021 Apr;79(4):321-333

Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, Instituto de Radiologia, São Paulo SP, Brazil.

Background: Pediatric arterial ischemic stroke (AIS), which was thought to be a rare disorder, is being increasingly recognized as an important cause of neurological morbidity, thanks to new advances in neuroimaging.

Objective: The aim of this study was to review the main etiologies of stroke due to arteriopathy in children.

Methods: Using a series of cases from our institution, we addressed its epidemiological aspects, physiopathology, imaging findings from CT, MR angiography, MR conventional sequences and MR DWI, and nuclear medicine findings. Read More

JAMA Neurol 2021 Jun 14. Epub 2021 Jun 14.

Yale Center for Genome Analysis, West Haven, Connecticut.

Importance: Moyamoya disease (MMD), a progressive vasculopathy leading to narrowing and ultimate occlusion of the intracranial internal carotid arteries, is a cause of childhood stroke. The cause of MMD is poorly understood, but genetic factors play a role. Several familial forms of MMD have been identified, but the cause of most cases remains elusive, especially among non-East Asian individuals. Read More

Ann Med Surg (Lond) 2021 Jun 25;66:102424. Epub 2021 May 25.

Department of Emergency Medicine and General Practice, Dr. Iwamura Memorial Hospital, Bhaktapur, 44800, Nepal.

Introduction And Importance: Moyamoya is a progressive vasoocclusive disease of large intracranial arteries with characteristic collaterals formation. It has a bimodal distribution and more frequent in females compared to males.

Case Presentation: We present a case of 38 years female who presented with a loss of consciousness following headache. Read More

J Neurosurg Pediatr 2021 Jun 11:1-6. Epub 2021 Jun 11.

Objective: There are limited reports on long-term morbidity in pediatric patients who have undergone surgical revascularization for moyamoya disease (MMD). Here, the authors report long-term morbidity and mortality in a population of pediatric patients who underwent pial synangiosis for MMD from 1988 through 2016.

Methods: A single-center retrospective review of the hospital and personal operative databases of the senior authors was carried out to identify all patients who were treated for MMD at Boston Children's Hospital between 1988 and 2016, and who experienced any episode of late morbidity or mortality, which the authors defined as an event resulting in significant neurological deficit or death occurring more than 1 year after revascularization surgery. Read More

Neurol Sci 2021 Jun 9. Epub 2021 Jun 9.

Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, 100053, China.

Purpose: To analyze the characteristics of acute ischemic stroke (AIS) resulting from moyamoya disease (MMD) and intracranial large artery atherosclerotic stenosis (LAS).

Method: This real-world case control study enrolled imaging-confirmed AIS patients owing to MMD or LAS hospitalized from January 2015 through September 2020 consecutively. The features of risk factors, peripheral blood, and imaging presentations were compared between the two cohorts. Read More

World Neurosurg 2021 Jun 16. Epub 2021 Jun 16.

Department of Neurological Surgery, Northwestern University Feinberg School of Medicine, Division of Pediatric Neurosurgery, Lurie Children's Hospital, Chicago, Illinois, USA. Electronic address:

Background: The effect of genetic factors on presentation and outcomes of moyamoya disease (MMD) is unclear. We aimed to examine differences in presentation of MMD by genetic variant, delineate the influence of genetic factors on outcomes, and characterize the applicability of genetic testing to management.

Methods: A systematic review was conducted using the PubMed, Embase, and Scopus databases. Read More

Neurol Genet 2021 Jun 2;7(3):e592. Epub 2021 Jun 2.

Department of Neurology (J.W.), the First Affiliated Hospital of Anhui Medical University, the School of Mental Health and Psychological Sciences, Anhui Medical University, Hefei, Anhui Province, Department of Neurology (J.W.), Drum Tower Hospital, Medical School and the State Key Laboratory of Pharmaceutical Biotechnology, Nanjing University; the School of Mental Health and Psychological Sciences (W.L.), Anhui Medical University, Anhui Province, Institute of Artificial Intelligence (W.L.), Hefei Comprehensive National Science Center. Anhui Province Key Laboratory of Cognition and Neuropsychiatric Disorders (W.L.), Hefei; Collaborative Innovation Center of Neuropsychiatric Disorders and Mental Health (W.L), Anhui Province; Department of Neurosurgery (Z.Z.), the Fifth Medical Centre, Chinese PLA General Hospital (Former 307th Hospital of PLA), Beijing; Department of Dermatology (Z.X.), the First Affiliated Hospital, Anhui Medical University, Hefei, Anhui Province; Key Laboratory of Dermatology (Z.X.), Anhui Medical University, Ministry of Education, Hefei, Anhui Province; State Key Lab of Dermatology Incubation Center (Z.X.), Anhui Medical University, Hefei, China; Department of Neurosurgery (D.L.), the Fifth Medical Centre, Chinese PLA General Hospital (Former 307th Hospital of PLA), Beijing; the School of Mental Health and Psychological Sciences (W.K.), Anhui Medical University, Anhui Province; Institute of Artificial Intelligence (W.K.), Hefei Comprehensive National Science Center; Anhui Province Key Laboratory of Cognition and Neuropsychiatric Disorders (W.K.), Hefei, Collaborative Innovation Center of Neuropsychiatric Disorders and Mental Health (W.K.), Anhui Province, China.

Objective: An HLA imputation was conducted to explore the relationship between HLA and patients with moyamoya disease (MMD) in the Chinese Han population.

Methods: In this study, we performed an association analysis of the major histocompatibility complex region in 2,786 individuals of Chinese Han ancestry (2,031 controls and 755 patients with MMD), through a widely used HLA imputation method.

Results: We identified that the variant rs3129731 (odds ratio [OR] = 1. Read More

Saudi J Ophthalmol 2020 Jul-Sep;34(3):223-226. Epub 2021 Feb 27.

Department of Neuro-Ophthalmology, Sankara Nethralaya, Medical Research Foundation, Chennai, Tamil Nadu, India.

A 13-year-old female presented with decrease in vision in both eyes with headache and vomiting for 15 days. Her visual acuity was perception of light with inaccurate projection in the right eye and counting fingers close to face in the left eye. Pupils were nonreactive. Read More

Front Neurol 2021 17;12:662393. Epub 2021 May 17.

Department of Neurology, Mayo Clinic, Rochester, MN, United States.

Moyamoya disease (MMD) is a complex and incompletely-understood cerebrovascular pathological entity that requires thorough clinical and imaging evaluation. Moyamoya is rare, thereby making the establishment of an effective, thorough and interdisciplinary patient evaluation protocol challenging, even within specialized referral centers. Nevertheless, implementation of such a protocol is crucial in order to provide the best possible evaluation and treatment for MMD patients. Read More

Front Neurol 2021 17;12:614749. Epub 2021 May 17.

Department of Ultrasound, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

To investigate the hemodynamic changes using ultrasound according to digital subtraction angiography (DSA) findings and explore the association between ultrasound parameters and clinical symptoms of moyamoya disease (MMD). Hemodynamic parameters of extracranial internal carotid artery (EICA) and posterior cerebral artery (PCA) were evaluated by ultrasound. According to DSA findings, EICA parameters among Suzuki stages (stage I-II, III-IV, and V-VI), and PCA parameters among leptomeningeal system scores (score 0-2, 3-4, and 5-6) were compared, respectively. Read More

Neurol Med Chir (Tokyo) 2021 Jun 3. Epub 2021 Jun 3.

Department of Neurosurgery, Nagoya University Graduate School of Medicine.

Moyamoya disease (MMD) causes intracranial arterial stenosis progression. The progression of intracranial arterial stenosis will increase the risk of ischemic cerebrovascular events. This study aims to investigate the relationship between intracranial arterial stenosis progression, vessel wall enhancement (VWE), and the recent neurological symptoms. Read More

Neuroradiol J 2021 Jun 2:19714009211021780. Epub 2021 Jun 2.

Department of Neurointervention, Osaka City General Hospital, Japan.

Background: The neural crest is a transient structure present in early embryogenesis. Cephalic neural crest cells migrate into the pharyngeal arches and the frontonasal process that becomes the forehead and midfacial structures. They also contribute to forming the media of the arteries of the circle of Willis and their branches. Read More

J Neurol Surg A Cent Eur Neurosurg 2021 Jun 2. Epub 2021 Jun 2.

Department of Neurosurgery, Jilin University First Hospital, Changchun, China.

Moyamoya disease (MMD) is an idiopathic progressive steno-occlusive disease in the internal carotid artery (ICA) bifurcation. In rare circumstances, transdural anastomotic aneurysm (TAA) could develop during the progression of MMD. We present an illustrative case of TAA in association with MMD. Read More

J Clin Med 2021 May 25;10(11). Epub 2021 May 25.

Department of Neurosurgery, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.

Whereas several studies have been so far presented about the surgical outcomes in terms of mortality and perioperative complications for elderly patients submitted to neurosurgical treatments, the management of elderly moyamoya patients is unclear. This review aims to explore the available data about the clinical manifestation, characteristics, and outcome after surgery of older patients with moyamoya arteriopathy (MA). We found only two articles strictly concerning elderly patients with MA. Read More

Cells 2021 May 1;10(5). Epub 2021 May 1.

Department of Neurology, Institute of Cerebrovascular Diseases Research, Xuanwu Hospital, Capital Medical University, Beijing 100000, China.

Understanding asymptomatic moyamoya disease (aMMD), for which treatment options are currently limited, is key to the development of therapeutic strategies that will slow down the progression of this disease, as well as facilitate the discovery of therapeutic targets for symptomatic MMD. Newly found transfer RNA-derived small RNAs (tsRNAs) perform potential regulatory functions in neovascularization, which is a well-known pathological manifestation of MMD. In this study, the neutrophilic tsRNA transcriptome in aMMD was profiled using next-generation RNA sequencing in five patients and five matched healthy subjects. Read More

Front Neurol 2021 13;12:669025. Epub 2021 May 13.

Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.

Studies exploring the predictive performance of major risk factors associated with future stroke events are insufficient, and a useful tool to predict individual risk is not available. Therefore, personalized advice for preventing future stroke in patients with moyamoya disease (MMD) cannot provide evidence-based recommendations. The aim of this study was to develop a novel nomogram with reliable validity to predict the individual risk of future stroke for adult MMD patients. Read More

Int J Neurosci 2021 May 27:1-14. Epub 2021 May 27.

Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, China.

Moyamoya disease (MMD) is a serious intracranial cerebrovascular disease. Cerebral hemorrhage caused by MMD will bring life risk to patients. Therefore, MMD detection is of great significance in the prevention of cerebral hemorrhage. Read More

Stroke Vasc Neurol 2021 May 26. Epub 2021 May 26.

Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

Object: Superficial temporal artery to middle cerebral artery (STA-MCA) bypass is the most effective treatment for Moyamoya disease (MMD). In this study, we aimed to assess whether aspirin improves STA-MCA bypass patency and is safe in patients with MMD.

Methods: We performed a retrospective medical record review of patients with ischaemic-onset MMD who had undergone STA-MCA bypass at two hospitals between January 2011 and August 2018, to clarify the effects and safety of aspirin following STA-MCA bypass. Read More

J Neurol Surg A Cent Eur Neurosurg 2021 May 24. Epub 2021 May 24.

Department of Neurosurgery, Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Cerebrovascular Disease Hospital, Henan University People's Hospital, Zhengzhou, Henan, China.

Background:  Intracranial aneurysms may be misdiagnosed with other vascular lesions such as vascular loops, infundibulum, or the stump of an occluded artery (very rare and reported compromising only the middle cerebral artery and the posterior circulation territory). Our aim was to describe a unique case of occlusion of an anterior cerebral artery mimicking a cerebral aneurysm in a probable moyamoya disease patient, and to highlight its clinical presentation, diagnosis, and management, and to perform an extensive literature review.

Case:  A 67-year-old man suffering from recurrent dizziness for 3 months. Read More

Isr Med Assoc J 2021 05;23(5):306-311

Department of Neurosurgery, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

Background: Superficial temporal artery-middle cerebral artery microvascular bypass (STA-MCA MVB) is an important strategy for the management of selected patients

Objectives: To present our 19-year experience with STA-MCA MVB

Methods: Data for consecutive patients who underwent STA-MCA MVB from 2000–2019 due to moyamoya/moyamoya-like disease, complex intracranial aneurysms, or intractable brain ischemia due to internal carotid artery or MCA occlusive disease with repeated ischemic events were retrospectively analyzed under a waiver of informed consent. Key surgical steps and the important role of neuroendovascular interventions are presented. Surgical results and late outcomes were analyzed

Results: The study included 32 patients (17 women [53%], 15 men [47%]), mean age 42. Read More

Eur Radiol 2021 May 21. Epub 2021 May 21.

Radiology Department, Beijing Tiantan Hospital, Capital Medical University, No.119 South Fourth Ring West Road, Fengtai District, Beijing, 100070, People's Republic of China.

Objectives: To evaluate the diagnostic accuracy of super-selective pseudo-continuous arterial spin labeling (ss-pCASL) at depicting external carotid artery (ECA) perfusion territory in moyamoya disease (MMD).

Methods: In total, 103 patients with MMD who underwent both ss-pCASL and digital subtraction angiography (DSA, the reference standard) were included. There were 3, 184, and 19 normal, preoperative, and postoperative MMD hemispheres, respectively. Read More

BMJ Case Rep 2021 May 21;14(5). Epub 2021 May 21.

Division of Pedodontics and Preventive Dentistry, Center for Dental Education and Research, AIIMS, New Delhi, Delhi, India.

Moyamoya disease is a chronic, progressive intracranial arteriopathy. It is characterised by progressive stenosis/occlusion of distal intracranial carotid and cerebral arteries. It is associated with a high risk of ischaemic and haemorrhagic stroke. Read More

AJNR Am J Neuroradiol 2021 May 20. Epub 2021 May 20.

From the Department of Neurosurgery (K.S., T.C., S.F., M.K., K. Yoshida, Y. Kubo, K.O.), Institute for Biomedical Sciences, Iwate Medical University School of Medicine, Yahaba-cho, Japan

Background And Purpose: Adult patients with ischemic Moyamoya disease are advised to undergo selective revascularization surgery based on cerebral hemodynamics. The purpose of this study was to determine the diagnostic accuracy of arterial spin-labeling MR imaging using Hadamard-encoded multiple postlabeling delays for the detection of reduced CBF in such patients.

Materials And Methods: Thirty-seven patients underwent brain perfusion SPECT and pseudocontinuous arterial spin-labeling MR imaging using standard postlabeling delay (1525 ms) and Hadamard-encoded multiple postlabeling delays. Read More

Orphanet J Rare Dis 2021 May 20;16(1):231. Epub 2021 May 20.

Skeletal Dysplasia Program, Division of Orthogenetics, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE, 19803, USA.

Background: Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, there are multiple associated medical complications, including a well-documented risk of neurovascular disease. Over the past several years, it has become apparent that additional vascular issues, as well as systemic hypertension and kidney disease may also be related to MOPDII. Read More

J Stroke Cerebrovasc Dis 2021 May 17;30(8):105852. Epub 2021 May 17.

Department of Neurosurgery, Sapporo Medical University, Sapporo, Japan.

In specific cases of moyamoya disease (MMD), posterior cerebral artery (PCA) stenosis can develop after treatment of the anterior circulation and require additional revascularization. Here, we report two cases that underwent additional posterior indirect revascularization with multiple burr holes for PCA involvement after bilateral revascularization treatment of the anterior circulation. They presented with transient ischemic attack even after bilateral superficial temporal artery-middle cerebral artery bypass, and magnetic resonance angiography (MRA) showed that PCA stenosis had worsened. Read More

Ann Hum Genet 2021 May 20. Epub 2021 May 20.

Department of Biological Structure, Kitasato University Graduate School of Medical Sciences, Sagamihara, Kanagawa, Japan.

Background: Ring finger protein 213 (RNF213) is a susceptibility gene of moyamoya disease (MMD). A previous case-control study and a family analysis demonstrated a strong association of the East Asian-specific variant, R4810K (rs112735431), with MMD. Our aim is to uncover evolutionary history of R4810K in East Asian populations. Read More

Nature 2021 Jun 19;594(7861):111-116. Epub 2021 May 19.

MRC Laboratory of Molecular Biology, Cambridge, UK.

Ubiquitylation is a widespread post-translational protein modification in eukaryotes and marks bacteria that invade the cytosol as cargo for antibacterial autophagy. The identity of the ubiquitylated substrate on bacteria is unknown. Here we show that the ubiquitin coat on Salmonella that invade the cytosol is formed through the ubiquitylation of a non-proteinaceous substrate, the lipid A moiety of bacterial lipopolysaccharide (LPS), by the E3 ubiquitin ligase ring finger protein 213 (RNF213). Read More