Publications by authors named "Alfred Pokmeng See"

Article Synopsis
  • Vein of Galen malformation (VOGM) is a serious congenital issue leading to high death rates and cognitive challenges, necessitating better diagnostic tools.
  • This study aimed to analyze brain blood flow in VOGM patients using 4D flow MRI, focusing on blood inflow to the brain and specific sinus flows, while relating these to age and other clinical factors.
  • Findings showed that blood flow in VOGM patients was consistently higher than normal, and significant correlations were found between various blood flow metrics and the size of pathological structures, aiding future treatment monitoring.
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Vascular malformations are structural abnormalities that are thought to result from errors in vasculogenesis and angiogenesis during embryogenesis. Vascular malformations of the scalp present unique management challenges due to aesthetic and functional implications. This review examines the pathophysiology, clinical presentation, and management techniques for six common types of vascular malformations of the face and scalp : infantile hemangioma, capillary malformations, venous malformations, lymphatic malformations, arteriovenous malformations, and arteriovenous fistulas.

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Background: Mechanical thrombectomy (MT) is a well-established treatment modality for large vessel occlusion (LVO) in adults, but there are limited data in the pediatric population. The rarity of the condition makes prospective trial design difficult, and therefore evaluation of MT devices and outcomes is sparse. In pediatric LVO cases, some newer devices may be appropriate for use in revascularization procedures.

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Pediatric intracranial arteriovenous malformations (AVMs) are challenging lesions managed by pediatric neurosurgeons. The high risk of hemorrhage and neurologic injury is compounded by the unique anatomy of each malformation that requires individualizing treatment options. This article reviews the current status of pediatric AVM epidemiology, pathophysiology and clinical care, with a specific focus on the rationale and methodology of surgical resection.

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Article Synopsis
  • Giant aneurysms in pediatric patients are rare but can lead to serious neurological issues; this study aimed to analyze the clinical outcomes of such cases.
  • The research involved a cohort study of 103 patients from multiple institutions and revealed that most aneurysms were located in the middle cerebral artery and that ruptures were more common in the posterior circulation.
  • Treatment often occurred (97%), with a noted mortality rate of 3% for unruptured aneurysms and 18% for ruptured ones; favorable neurological outcomes were linked to unruptured aneurysms and endovascular treatment.
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To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human cerebrovasculature single-cell transcriptomes. We found the Ras suppressor p120 RasGAP (RASA1) harbored a genome-wide significant burden of loss-of-function de novo variants (2042.5-fold, p = 4.

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The small, ubiquitin-like modifier (SUMO) is a post-translational modifier with a profound influence on several key biological processes, including the mammalian stress response. Of particular interest are its neuroprotective effects, first recognized in the 13-lined ground squirrel (), in the context of hibernation torpor. Although the full scope of the SUMO pathway is yet to be elucidated, observations of its importance in managing neuronal responses to ischemia, maintaining ion gradients, and the preconditioning of neural stem cells make it a promising therapeutic target for acute cerebral ischemia.

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Article Synopsis
  • The study focused on understanding vein of Galen malformations (VOGMs), which are severe congenital brain abnormalities, by analyzing the genetic data from 310 affected individuals and their families, as well as a large database of human cerebrovascular cells.
  • Researchers identified significant genetic mutations, particularly in the gene p120 RasGAP and the Ephrin receptor-B4, which play roles in limiting Ras activation and are key to VOGM development.
  • Experiments on mice with specific genetic alterations revealed that abnormal activation of signaling pathways in endothelial cells leads to developmental issues in blood vessel formation, providing insights into both the biology of VOGMs and potential clinical applications for treatment.
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Introduction: Although endovascular techniques have improved outcomes in vein of Galen malformations (VOGM), there is still a high rate of morbidity and mortality, particularly among cases with decompensation in the neonatal period. The dimension of the draining venous sinus on fetal imaging correlates with the risk of neonatal decompensation. In fetuses within this high-risk group who do not have end-organ injury, there is a theoretical therapeutic opportunity to reduce the arteriovenous shunt before the normal physiological changes of birth precipitate decompensation.

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The literature has long attempted distinct classifications of arteriovenous fistulae and arteriovenous malformations of the spine.1-3 It is worth noting that lesions can become more complex during recurrence and may not adhere to traditional definitions. In these cases, recognizing the principles of pathology and pathophysiology can guide management and treatment.

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Objective: The purpose of this study was to evaluate the association between noninfectious fever onset and radiographic vasospasm, delayed ischemic neurologic deficit (DIND), delayed cerebral infarction (DCI), and clinical outcome in patients with aneurysmal subarachnoid hemorrhage.

Methods: We evaluated 44 patients for the association between noninfectious fever (greater than 101.5°F) and the development of radiographic vasospasm by digital subtraction angiography (DSA) and transcranial Doppler (TCD), DIND, DCI, and modified Rankin scale outcome score at 6 months to 2 years.

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