Moyamoya disease is a cerebrovascular disorder of unknown etiology. Its high incidence in East Asia and accumulation in family members suggest a genetic background. A high incidence of maternal inheritance implicates genomic imprinting in this disorder. Based on this hypothesis, we studied the association between moyamoya disease and IGF2R gene on chromosome 6, but found no evidence for such association between them. On the other hand, heterogeneous expressions of IGF2R were confirmed in the lymphocytes. Some individuals showed monoallelic expression and others showed biallelic expression.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
[Analysis of etiology and short-term prognosis of childhood arterial ischemic stroke based on the COIST classification].
Zhonghua Yi Xue Za Zhi
January 2025
Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing100045, China.
This study aims to analyze the etiology and short-term prognosis of childhood arterial ischemic stroke (AIS) in Chinese children, based on the COIST classification system. A total of 380 pediatric patients with a first-ever diagnosis of AIS treated at Beijing Children's Hospital between September 2015 and April 2024 were retrospectively included. Etiology was analyzed according to COIST classification.
View Article and Find Full Text PDFIndividualized autoregulation-guided arterial blood pressure management in neurocritical care.
Neurotherapeutics
January 2025
Division of Neurosciences Critical Care, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Neurology, Johns Hopkins University School of Medicine, USA; Department of Anesthesiology & Critical Care Medicine, Johns Hopkins University School of Medicine, USA. Electronic address:
Cerebral autoregulation (CA) is the physiological process by which cerebral blood flow is maintained during fluctuations in arterial blood pressure (ABP). There are various validated methods to measure CA, either invasively, with intracranial pressure or brain tissue oxygenation monitors, or noninvasively, with transcranial Doppler ultrasound or near-infrared spectroscopy. Utilizing these monitors, researchers have been able to discern CA patterns in several pathological states, such as but not limited to acute ischemic stroke, spontaneous intracranial hemorrhage, aneurysmal subarachnoid hemorrhage, sepsis, and post-cardiac arrest, and they have found CA to be altered in these patients.
View Article and Find Full Text PDFAdvances in moyamoya disease: pathogenesis, diagnosis, and therapeutic interventions.
MedComm (2020)
February 2025
Department of Neurosurgery Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China.
Moyamoya disease (MMD) is a type of cerebrovascular disease characterized by occlusion of the distal end of the internal carotid artery and the formation of collateral blood vessels. Over the past 20 years, the landscape of research on MMD has significantly transformed. In this review, we provide insights into the pathogenesis, diagnosis, and therapeutic interventions in MMD.
View Article and Find Full Text PDFComplex Scalp Reconstruction in Moyamoya Disease Using Distant Flap After Free Tissue Transfer Failure.
J Craniofac Surg
November 2024
Department of Plastic and Reconstructive Surgery, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
A preferred option among many surgeons for treating large defects in the head and neck area is reconstruction using autologous tissue, particularly free tissue transfer with microvascular anastomosis. However, some defects cannot be resolved with conventional microvascular techniques or algorithmic approaches. In this case study, a 55-year-old female, who previously underwent bypass surgery for Moyamoya disease, presented with a large scalp defect following surgical necrosis.
View Article and Find Full Text PDFSuperficial temporal artery-to-middle cerebral artery side-to-side microvascular anastomosis using the in-situ intraluminal suturing technique.
Acta Neurochir (Wien)
January 2025
Department of Neurosurgery, The Fourth Affiliated Hospital of Soochow University, Suzhou, China.
Background: Superficial temporal artery (STA)-middle cerebral artery (MCA) side-to-side microvascular anastomosis can achieve the same clinical effects as traditional STA-MCA end-to-side anastomosis in extracranial-intracranial revascularization surgery, furthermore, STA-MCA side-to-side anastomosis has the lower risk of postoperative cerebral hyperperfusion syndrome (CHS) and the potential to recruit all scalp arteries as the donor sources via self-regulation. Therefore, STA-MCA side-to-side microvascular anastomosis seems to be a revascularization strategy superior to traditional STA-MCA end-to-side anastomosis. In this study, we presented seven cases in which a STA-MCA side-to-side microvascular anastomosis was performed with a 4-5 mm long arteriotomy using the in-situ intraluminal suturing technique.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!