Scripps Florida scientist wins $2 million grant to study childhood disorder

(Scripps Research Institute) Assistant Professor Seth Tomchik of the Florida campus of The Scripps Research Institute (TSRI) has received $2 million in funding from the National Institutes of Health's National Institute of Neurological Disorders and Stroke (NINDS). The new five-year grant funding will support the study of neurofibromatosis type I, an inherited disorder that results from genetic mutations affecting a protein called neurofibromin (Nf1).
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news

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We present an unusual case of GDAVF in a 37-year-old man with NF1. The fistula drained directly to the vein of Galen through multiple feeders. Complete occlusion of the fistula was achieved through trans-arterial embolisation with Onyx (ethylene vinyl alcohol copolymer) in a single treatment session. Deep venous drainage remained intact, and the patient recovered well. To our knowledge, this is the first report on complete closure of GDAVF with NF1 using trans-arterial embolisation. The preservation of functioning of the straight sinus may have contributed to the success of treatment. PMID: 31146620 [PubMed - as supplied by publisher]
Source: Interventional Neuroradiology - Category: Radiology Tags: Interv Neuroradiol Source Type: research
We report a case of a 67-year-old female with NF1 accompanied by 8 cerebral aneurysms. Two of the patient's unruptured aneurysms, the large distal anterior cerebral artery (ACA) aneurysm and anterior communicating artery aneurysm, were initially treated with microsurgical clipping.
Source: Journal of Stroke and Cerebrovascular Diseases - Category: Neurology Authors: Tags: Case Report Source Type: research
Conclusions: There are limited reports of protamine reversal of heparin before IV-tPA administration. To our knowledge, there are only 6 AIS cases including ours. Three cases received 0.6 mg/kg of tPA dose. All have favorable outcomes and no intracranial hemorrhage was reported. Protamine reversal of heparin for AIS after CC seems to be safe. Further studies are needed to confirm the therapeutic safety and efficacy of this strategy.
Source: The Neurologist - Category: Neurology Tags: Case Report/Case Series Source Type: research
Moyamoya is a chronic, progressive steno-occlusive arteriopathy that typically affects the anterior circulation arteries of the circle of Willis. A network of deep thalamoperforating and lenticulostriate collaterals develop to by-pass the occlusion giving rise to the characteristic angiographic ‘puff of smoke’ appearance. Moyamoya confers a lifelong risk of stroke and neurological demise, with peak age of presentation in childhood ranging between 5 and 10 years. Moyamoya disease is used to refer to patients who do not have a co-morbid condition, whereas Moyamoya syndrome refers to pati ents in whom moyamoya occ...
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Review Article Source Type: research
Developmental Medicine&Child Neurology, EarlyView.
Source: Developmental Medicine and Child Neurology - Category: Child Development Authors: Source Type: research
Source: Acta Neurologica Belgica - Category: Neurology Source Type: research
Authors: Maki Y, Ishibashi R, Fukuda H, Kobayashi M, Chin M, Yamagata S Abstract Vertebral arteriovenous fistula (VAVF), which can cause subarachnoid hemorrhage (SAH) when having a perimedurally drainage, has been reported as a rare vascular abnormality in patients with neurofibromatosis type 1 (NF-1). In addition, extracranial vertebral aneurysm (EVAn) coexisting with VAVF and NF-1 is considered rare, and further complication with SAH is extremely rare in patients. There is only one reported case of NF-1 complicated with SAH from VAVF with an EVAn. Here, we present a case of a middle-aged patient with NF-1. The VA...
Source: Neurologia Medico-Chirurgica - Category: Neurosurgery Tags: Neurol Med Chir (Tokyo) Source Type: research
CONCLUSION: Many diseases can be associated with Moya-Moya syndrome. Symptomatic patients should undergo surgery, but the risk of postoperative complications appears to be greater than that encountered in patients with non-syndromic Moya-Moya angiopathy. PMID: 29475609 [PubMed - as supplied by publisher]
Source: Neuro-Chirurgie - Category: Neurosurgery Authors: Tags: Neurochirurgie Source Type: research
Quasi-moyamoya disease is a condition that occurs in association with a specific underlying condition or disease such as atherosclerotic disease or neurofibromatosis type 1 (NF1). Pediatric cases are frequently reported, and an ischemic and bilateral presentation is more common than a hemorrhagic and unilateral presentation.
Source: Journal of Stroke and Cerebrovascular Diseases - Category: Neurology Authors: Tags: Case Studies Source Type: research
An 85-year-old woman's inability to remain standing was ultimately connected to an undiagnosed congenital defect. The patient was admitted to the geriatric unit of a university hospital for new frequent falls and subacute delirium, both of which began a month before presentation. Her medical history included ischemic stroke 10 years earlier, mild neurocognitive impairment, and Von Recklinghausen neurofibromatosis with isolated skin involvement.
Source: The American Journal of Medicine - Category: General Medicine Authors: Tags: Diagnostic Dilemma Source Type: research
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