AGS Aicardi-Goutires syndromeAIM To describe a spectrum of intracerebral large artery disease in Aicardi-Goutiè res syndrome (AGS) associated with mutations in the AGS5 gene SAMHD1. METHODWe used clinical and radiological description and molecular analysis. RESULTS Five individuals (three males, two females) were identified as having biallelic mutations in SAMHD1 and a cerebral arteriopathy in association with peripheral vessel involvement resulting in chilblains and ischaemic ulceration. The cerebral vasculopathy was primarily occlusive in three patients (with terminal carotid occlusion and basal collaterals reminiscent of moyamoya syndrome) and aneurysmal in two. Three of the five patients experienced intracerebral haemorrhage, which was fatal in two individuals. Post-mortem examination of one patient suggested that the arteriopathy was inflammatory in origin.INTERPRETATION Mutations in SAMHD1 are associated with a cerebral vasculopathy which is likely to have an inflammatory aetiology. A similar disease has not been observed in patients with mutations in AGS1 to AGS4, suggesting a particular role for SAMHD1 in vascular homeostasis. Our report raises important questions about the management of patients with mutations in SAMHD1.

The Silk stent (Balt, Montmorency, France) is a retractable device designed to achieve curative reconstruction of the parent artery associated with an intracranial aneurysm. We present our initial experience with the Silk flow-diverting stent in the management and follow-up of 25 patients presenting with intracranial aneurysms. Twenty-five patients (age range, 34–81 years; 24 female) were treated with the Silk flow-diverting device. Aneurysms ranged in size from small (5), large (10) and giant (10) and included wide-necked aneurysms, multiple, nonsaccular, and recurrent intracranial aneurysms. Nine aneurysms were treated for headache, 14 for mass effect. None presented with haemorrhage. All patients were pretreated with dual antiplatelet medications for at least 72 hours before surgery and continued taking both agents for at least three months after treatment. A total of 25 Silk stents were used. Control MR angiography and/or CT angiography was typically performed prior to discharge and at one, three, six and 12 months post treatment. A follow-up digital subtraction angiogram was performed between six and 19 months post treatment. Complete angiographic occlusion or subtotal occlusion was achieved in 15 patients in a time frame from three days to 12 months. Three deaths and one major complication were encountered during the study period. Two patients, all with cavernous giant aneurysms, experienced transient exacerbations of preexisting cranial neuropathies and headache after the Silk treatment. Both were treated with corticosteroids, and symptoms resolved completely within a month. In our experience the Silk stent has proven to be a valuable tool in the endovascular treatment of intracranial giant partially thrombosed aneurysms and aneurysms of the internal carotid artery cavernous segment presenting with mass effect. The time of complete occlusion of the aneurysms and the risk of the bleeding is currently not predictable.

A multitude of therapies is available to treat disc herniation, ranging from conservative methods (medication and physical therapy) to minimally invasive (percutaneous) treatments and surgery. O2-O3 chemonucleolysis (O2-O3 therapy) is one of the minimally invasive treatments with the best cost/benefit ratio and lowest complication rate. Another substance recently made available exploiting the chemical properties of pure ethanol is DiscoGel®, a radiopaque gelified ethanol more viscous than absolute alcohol 8,9. The present study aimed to assess the therapeutic outcome of DiscoGel® chemonucleolysis in patients with lumbar disc herniation unresponsive to O2-O3 therapy. Thirty-two patients aged between 20 and 79 years were treated by DiscoGel® chemonucleolysis between December 2008 and January 2010. The treatment was successful (improvement in pain) in 24 out of 32 patients. DiscoGel® is safe and easy to handle and there were no complications related to product diffusivity outside the treatment site. The therapeutic success rate of DiscoGel® chemonucleolysis in patients unresponsive to O2-O3 therapy was satisfactory. Among other methods used to treat lumbar disc herniation, DiscoGel® chemonucleolysis can be deemed an intermediate procedure bridging conservative medical treatments and surgery.

Flow-diverting stents (Silk and PED) have radically changed the approach to intracranial aneurysm treatment from the use of endosaccular materials to use of an extraaneurysmal endoluminal device. However, much debate surrounds the most appropriate indications for the use of FD stents and the problems raised by several possible complications. We analysed our technical difficulties and the early (less than ten days after treatment) and late complications encountered in 30 aneurysms treated comprising 13 giant lesions, 12 large, five with maximum diameters <10 mm and one blister-like aneurysm. In our experience the primary indications for the use of FD stents can be the symptomatic intracavernous giant aneurysms. Although the extracavernous carotid siphon aneurysms have major risk of bleeding, FD stents are indicated clearly explaining the risks to the patient in case of severe mass effect. There is a very complex assessment for aneurysms of the vertebrobasilar circulation.

The treatment of giant cerebral aneurysms has always been a challenge for neurosurgeons and neuroradiologists. Flow-diverting stents (Silk; Pipeline Embolization Device) are new endovascular devices introduced for the treatment of intracranial aneurysms without release of intrasaccular coils. They are tubular bimetallic endoluminal devices with low porosity. We have employed these stents in the Neuroradiology Unit of Bellaria Hospital (Bologna, Italy) since the end of 2008, treating nine patients with giant carotid cerebral aneurysms using nine Silk stents as soon as the device obtained the CE mark. All patients were pretreated with dual antiplatelet medications before surgery. The Silk stents were deployed through a 4F Balt introducer, which ensured an uneventful and very quick procedure. Control CT angiography or MR angiography was typically performed at discharge and one, three, six and 12 months after treatment. Post-treatment results were: four complete occlusions, three near complete occlusions (residual neck flow) with reduced volume of the aneurysm and two more than 50% reduction of intra-aneurysmal flow. A fatal hemorrhagic complication occurred in one patient, probably due to the antiplatelet treatment. The Silk stent seems a very interesting curative device to treat giant aneurysms with preservation of the parent artery and small adjacent branches. Technical improvements will certainly reduce the thrombogenic effect with the related risks.

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Thrombolysis with intravenous rt-PA is the current therapy for acute ischemic stroke. Unlike other outcome factors, relatively little is known about the prognostic value of the occlusion site on treatment outcome. We compared the effectiveness and safety of intravenous thrombolysis in patients with different levels of occlusion identified by CT angiography (CTA) in anterior circulation stroke, and analyzed the influence of the occlusion site on treatment outcome in relation to other outcome factors. We selected 71 patients from a stroke database collected between June 2007 and December 2011 at our hospital. All of the studied patients had anterior circulation stroke with intracranial occlusion detected by CTA and were treated with intravenous rt-PA. They were divided into two groups according to the site of occlusion along the middle cerebral artery course: proximal (carotid “T”, complete M1 and mild M1 occlusions) and distal (M2/M3 occlusions). Treatment effectiveness was assessed by modified Rankin Scale (mRS) at three months, considering a positive outcome a mRS value ≤ 2. Treatment safety was assessed by evaluating the rate of hemorrhagic complications seen on unenhanced CT at 24 hours. Binary logistic regression was performed to evaluate the interaction between occlusion site and other variables such as sex, age, ASPECT score on admission and baseline NIHSS value in determining treatment outcome. The degree of effectiveness and safety differed when considering patients with proximal and distal occlusions. The percentage of successfully treated cases was 28.6% in the first group compared to 72% in the second, and the rate of hemorrhagic complications was 28.6% and 6% respectively. After adjustment for sex, age, ASPECT score on admission and baseline NIHSS value, occlusion site was the only variable significantly influencing treatment safety and, together with baseline NIHSS value, the only valid predictor of treatment effectiveness. We demonstrated a correlation between the site of arterial occlusion and outcome of intravenous thrombolysis. By helping the choice of the best therapeutic strategy depending on the identified occlusion site, CTA could be usefully added to the examinations included in the Stroke Protocol for the baseline evaluation of patients with suspected acute stroke.

Background: different procedures have been used for the treatment of lumbar juxtafacet cysts (Jfcs). recently, fullendoscopic cyst excision has been suggested as a reasonable alternative. We performed a meta-analysis to assess the overall rates of favorable outcomes and adverse events for each available treatment and determine the outcome and complication rates concerning spine stability.Methods: Multiple databases were searched for English-language studies involving adult patients with lumbar Jfcs who had been followed for more than 6 months. outcomes included the proportion of patients with a satisfactory outcome. adverse events included recurrence and revision rates as well as intraoperative complications. We further stratified the analysis based on the spine's condition (degenerative listhesis vs without degenerative listhesis).Results: a total of 43 studies, including 2226 patients, were identified. over 80% of patients experienced satisfactory improvement after surgical excision but only 66.2% after percutaneous cyst rupture and aspiration. overall, recurrence and revision rates were almost double in patients with preoperative degenerative listhesis at the cyst level, especially in the minimally invasive group (2.1% vs 31.3% and 6.8% vs 13.1%, respectively). the rate of full-endoscopic satisfactory outcomes was approximately 90%, with low rates of adverse events (<2%).Conclusion: We analyzed the outcome and adverse event rates for each kind of available treatment for Jfc. full endoscopy has outcomes and rates of adverse events that overlap with open and minimally invasive approaches.