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Search on : Vein and of and Galen and Malformations [Words]
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[PMID]: 29408495
[Au] Autor:Hosmann A; El-Garci A; Gatterbauer B; Bavinzski G; Knosp E; Gruber A
[Ad] Address:Department of Neurosurgery, Medical University of Vienna, Vienna, Austria.
[Ti] Title:Multimodality Management of Vein of Galen Malformations-An Institutional Experience.
[So] Source:World Neurosurg;, 2018 Feb 03.
[Is] ISSN:1878-8769
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: The vein of Galen aneurysmal malformation (VGM) is a rare intracranial arteriovenous fistula with a dramatic manifestation during infancy and 100% mortality without treatment. Therapeutic strategies for VGMs have changed over time as a result of advances in endovascular techniques. We present our experience and multimodality approach within the last 4 decades. METHODS: A retrospective analysis and angiographic review were performed of patients with VGM between 1975 and 2016 at our institution. RESULTS: Eighteen consecutive patients were identified, including 10 with choroidal and 8 with mural VGMs. In 37 endovascular interventions, a transarterial approach was mostly performed (82.8%). One patient was initially treated surgically and received 2 Gamma Knife treatments after multiple embolizations. The preferred embolization agent was histoacryl for choroidal VGMs and a combination of coils and histoacryl for mural VGMs. Total occlusion was achieved in 87.5% of mural VGMs and 11.1% of choroidal VGMs. Cerebral hemorrhages and infarction occurred only in patients younger than 1 month. At a median follow-up interval of 4.6 years, good outcome was achieved in 53.8% and poor outcome in 46.2%, with an overall mortality of 16.7%. Poor outcome was significantly associated with choroidal-type VGMs, age <1 month at first embolization, and incomplete occlusion. CONCLUSIONS: Endovascular embolization using a transarterial approach is the therapy of choice. Gamma Knife radiosurgery can be considered as second-line therapy in a multimodal approach. Whereas treatment within the first month of life is associated with the highest mortality and complications, we did not detect any severe adverse events thereafter.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180303
[Lr] Last revision date:180303
[St] Status:Publisher

  2 / 1194 MEDLINE  
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[PMID]: 29444212
[Au] Autor:Vivanti A; Ozanne A; Grondin C; Saliou G; Quevarec L; Maurey H; Aubourg P; Benachi A; Gut M; Gut I; Martinovic J; Sénat MV; Tawk M; Melki J
[Ad] Address:Institut National de la Santé et de la Recherche Médicale (Inserm) UMR-1169 and University Paris Sud, Le Kremlin Bicêtre, 94276, France.
[Ti] Title:Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.
[So] Source:Brain;, 2018 Feb 09.
[Is] ISSN:1460-2156
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Vein of Galen aneurysmal malformation is a congenital anomaly of the cerebral vasculature representing 30% of all paediatric vascular malformations. We conducted whole exome sequencing in 19 unrelated patients presenting this malformation and subsequently screened candidate genes in a cohort of 32 additional patients using either targeted exome or Sanger sequencing. In a cohort of 51 patients, we found five affected individuals with heterozygous mutations in EPHB4 including de novo frameshift (p.His191Alafs*32) or inherited deleterious splice or missense mutations predicted to be pathogenic by in silico tools. Knockdown of ephb4 in zebrafish embryos leads to specific anomalies of dorsal cranial vessels including the dorsal longitudinal vein, which is the orthologue of the median prosencephalic vein and the embryonic precursor of the vein of Galen. This model allowed us to investigate EPHB4 loss-of-function mutations in this disease by the ability to rescue the brain vascular defect in knockdown zebrafish co-injected with wild-type, but not truncated EPHB4, mimicking the p.His191Alafs mutation. Our data showed that in both species, loss of function mutations of EPHB4 result in specific and similar brain vascular development anomalies. Recently, EPHB4 germline mutations have been reported in non-immune hydrops fetalis and in cutaneous capillary malformation-arteriovenous malformation. Here, we show that EPHB4 mutations are also responsible for vein of Galen aneurysmal malformation, indicating that heterozygous germline mutations of EPHB4 result in a large clinical spectrum. The identification of EPHB4 pathogenic mutations in patients presenting capillary malformation or vein of Galen aneurysmal malformation should lead to careful follow-up of pregnancy of carriers for early detection of anomaly of the cerebral vasculature in order to propose optimal neonatal care. Endovascular embolization indeed greatly improved the prognosis of patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180214
[Lr] Last revision date:180214
[St] Status:Publisher
[do] DOI:10.1093/brain/awy020

  3 / 1194 MEDLINE  
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[PMID]: 29436506
[Au] Autor:Dürr NR; Brinjikji W; Pohrt A; Lanfermann H; Brassel F; Meila D
[Ad] Address:Department of Radiology and Neuroradiology, Sana Kliniken Duisburg, Zu den Rehwiesen, Duisburg, Germany.
[Ti] Title:Non-enhanced MR imaging for preinterventional assessment of the angioarchitecture in vein of Galen malformations.
[So] Source:J Neurointerv Surg;, 2018 Feb 07.
[Is] ISSN:1759-8486
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND AND PURPOSE: Endovascular treatment of vein of Galen malformations (VGMs) requires sufficient preceding MR imaging. Standardized, preinterventional, non-invasive imaging has not been established. Our study is the first to examine the role of a dedicated, standardized, non-invasive imaging protocol in the evaluation of VGM angioarchitecture by non-contrast MRI/MR angiography. MATERIALS AND METHODS: We retrospectively evaluated a consecutive series of VGM patients who underwent a 1.5 T MRI protocol, including standard T2 weighted images (T2WI), arterial time of flight (TOF), and thin T2WI without flow compensation (T2OffPh). The primary outcome was the proportion of patients in whom VGM subtypes and all arterial feeders (anterior (AChA) and posterior (PChA) choroidal arteries, pericallosal arteries, basilar tip, and leptomeningeal supply) could be accurately identified compared with a DSA gold standard. RESULTS: A total of 26 VGM patients who underwent 108 studies were used in the statistical analysis. VGM subtype was best seen in axial T2OffPh (92.1%) and TOF (89.8%). AChA feeders were best seen in TOF (86.5%) and axial T2OffPh (72.2%). PChA feeders were best seen in TOF (95.1%) and axial T2OffPh (88.1%). Pericallosal feeders were best seen in axial T2OffPh (95.4%) and TOF (95.1%). Basilar tip feeders were best seen in TOF (90.6%) and axial T2OffPh (88.4%). CONCLUSION: VGM angioarchitecture is best seen in TOF and axial T2OffPh. It can be used as an alternative to global angiographic series.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180213
[Lr] Last revision date:180213
[St] Status:Publisher

  4 / 1194 MEDLINE  
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[PMID]: 29350590
[Au] Autor:Duran D; Karschnia P; Gaillard JR; Karimy JK; Youngblood MW; DiLuna ML; Matouk CC; Aagaard-Kienitz B; Smith ER; Orbach DB; Rodesch G; Berenstein A; Gunel M; Kahle KT
[Ad] Address:Department of Neurosurgery.
[Ti] Title:Human genetics and molecular mechanisms of vein of Galen malformation.
[So] Source:J Neurosurg Pediatr;:1-8, 2018 Jan 19.
[Is] ISSN:1933-0715
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Vein of Galen malformations (VOGMs) are rare developmental cerebrovascular lesions characterized by fistulas between the choroidal circulation and the median prosencephalic vein. Although the treatment of VOGMs has greatly benefited from advances in endovascular therapy, including technical innovation in interventional neuroradiology, many patients are recalcitrant to procedural intervention or lack accessibility to specialized care centers, highlighting the need for improved screening, diagnostics, and therapeutics. A fundamental obstacle to identifying novel targets is the limited understanding of VOGM molecular pathophysiology, including its human genetics, and the lack of an adequate VOGM animal model. Herein, the known human mutations associated with VOGMs are reviewed to provide a framework for future gene discovery. Gene mutations have been identified in 2 Mendelian syndromes of which VOGM is an infrequent but associated phenotype: capillary malformation-arteriovenous malformation syndrome ( RASA1) and hereditary hemorrhagic telangiectasia ( ENG and ACVRL1). However, these mutations probably represent only a small fraction of all VOGM cases. Traditional genetic approaches have been limited in their ability to identify additional causative genes for VOGM because kindreds are rare, limited in patient number, and/or seem to have sporadic inheritance patterns, attributable in part to incomplete penetrance and phenotypic variability. The authors hypothesize that the apparent sporadic occurrence of VOGM may frequently be attributable to de novo mutation or incomplete penetrance of rare transmitted variants. Collaboration among treating physicians, patients' families, and investigators using next-generation sequencing could lead to the discovery of novel genes for VOGM. This could improve the understanding of normal vascular biology, elucidate the pathogenesis of VOGM and possibly other more common arteriovenous malformation subtypes, and pave the way for advances in the diagnosis and treatment of patients with VOGM.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180119
[Lr] Last revision date:180119
[St] Status:Publisher
[do] DOI:10.3171/2017.9.PEDS17365

  5 / 1194 MEDLINE  
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[PMID]: 29082570
[Au] Autor:George Zaki Ghali M
[Ad] Address:Department of Neurological Surgery, Baylor College of Medicine, Houston, Texas.
[Ti] Title:Galenic pial arteriovenous fistulas: Angioarchitecture, clinical presentation, and therapeutic considerations.
[So] Source:Clin Anat;, 2017 Oct 30.
[Is] ISSN:1098-2353
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Vein of Galen (VG) aneurysmal malformations (VGAMs) are complex vascular lesions. Their etiopathogenesis is extensively debated and remains poorly understood. Strictly speaking, true VGAMs are Galenic pial arteriovenous fistulas. They are believed to arise in utero and are contended to drain either into the true VG or the median prosencephalic vein of Markowski. Several classification systems have been proposed and are widely used. With the advent of endovascular therapy, precise understanding of the angioarchitecture is critical for management and therapeutic decision making. We review clinical presentation and diagnostic imaging findings, discussing angioarchitectural properties as they relate to treatment planning. Clin. Anat., 2017. © 2017 Wiley Periodicals, Inc.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1710
[Cu] Class update date: 171118
[Lr] Last revision date:171118
[St] Status:Publisher
[do] DOI:10.1002/ca.23004

  6 / 1194 MEDLINE  
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[PMID]: 28982789
[Au] Autor:Brinjikji W; Krings T; Murad MH; Rouchaud A; Meila D
[Ad] Address:From the Departments of Radiology (W.B.) brinjikji.waleed@mayo.edu brinjikji.waleed@gmail.com.
[Ti] Title:Endovascular Treatment of Vein of Galen Malformations: A Systematic Review and Meta-Analysis.
[So] Source:AJNR Am J Neuroradiol;, 2017 Oct 05.
[Is] ISSN:1936-959X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Outcomes after endovascular embolization of vein of Galen malformations remain relatively poorly described. PURPOSE: We performed a systematic review of the literature to determine outcomes and predictors of good outcomes following endovascular treatment of vein of Galen malformations. DATA SOURCES: We used Ovid MEDLINE, Ovid Embase, and the Web of Science. STUDY SELECTION: Our study consisted of all case series with ≥4 patients receiving endovascular treatment of vein of Galen malformations published through January 2017. DATA ANALYSIS: We studied the following outcomes: complete/near-complete occlusion rates, technical complications, perioperative stroke, perioperative hemorrhage, technical mortality, all-cause mortality, poor neurologic outcomes, and good neurologic outcomes. Outcomes were stratified by age-group (neonate, infant, child). A random-effects meta-analysis was performed. DATA SYNTHESIS: A total of 27 series with 578 patients were included; 41.9% of patients were neonates, 45.0% of patients were infants, and 13.1% of patients were children. All-cause mortality was 14.0% (95% CI, 8.0%-22.0%). Overall good neurologic outcome rates were 62.0% (95% CI, 57.0%-67.0%). Overall poor neurologic outcome rates were 21.0% (95% CI, 17.0%-26.0%). Neonates were significantly less likely to have good neurologic outcomes than infants (48.0%; 95% CI, 35.0%-62.0% versus 77.0%; 95% CI, 70.0%-84.0%; < .01). Treatment indications following the Bicêtre neonatal evaluation score resulted in significantly higher rates of good neurologic outcome ( = .04). Patients with congestive heart failure had significantly lower rates of good neurologic outcome (OR, 0.50; 95% CI, 0.28-0.88; = .01). LIMITATIONS: Limitations were selection and publication biases. CONCLUSIONS: Patients receiving endovascular embolization of vein of Galen malformations experienced good long-term clinical outcomes in >60% of cases. Appropriate patient selection is key as treatment guided by the Bicêtre neonatal evaluation score was associated with improved neurologic outcomes.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171006
[Lr] Last revision date:171006
[St] Status:Publisher
[do] DOI:10.3174/ajnr.A5403

  7 / 1194 MEDLINE  
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[PMID]: 28859024
[Au] Autor:Song W; Sun H; Liu J; Liu L; Liu J
[Ad] Address:*Department of Neurosurgery, the Fifth People's Hospital of Chengdu †Department of Neurosurgery, West China Hospital of Sichuan University, Chengdu, China.
[Ti] Title:Spontaneous Resolution of Venous Aneurysms After Transarterial Embolization of a Variant Superior Sagittal Sinus Dural Arteriovenous Fistula: Case Report and Literature Review.
[So] Source:Neurologist;22(5):186-195, 2017 Sep.
[Is] ISSN:2331-2637
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:We present a rare case of dural arteriovenous fistula (DAVF) with subarachnoid hemorrhage and intraventricular hemorrhage due to its venous aneurysms. A 63-year-old woman was admitted for a sudden loss of consciousness. Computed tomography angiograph, magnetic resonance imaging angiography, and digital subtraction angiography revealed a superior sagittal sinus DAVF. The fistula was fed by the left middle meningeal artery and left internal carotid artery, and was drained by a right vein of Trolard, the superficial Sylvian vein, deep Sylvian vein, and basal vein to the vein of Galen. The drainage veins were enlarged obviously with 3 aneurysmal venous malformations. There was a stenosis segment on the right basal vein. All the anatomic factors of direct cortical vein drainage, normal deep vein drainage, long tortuous drainage vein, outflow restriction, and multiple venous aneurysms, were contributed to the aggressive presentation of our case. Transarterial complete embolization of the fistula with balloon protection was successfully performed. Nine months later, a follow-up magnetic resonance imaging showed a complete disappearance of the 2 venous aneurysms located in the deep Sylvian vein and basal vein, and an obvious decrease in size of the venous aneurysm of the superficial Sylvian vein. This is the first report of a DAVF with 3 ballooned venous aneurysms and a spontaneous anatomy resolution of the venous aneurysms after the embolization of the fistula. At the same time, the clinical and radiologic characteristics of variant superior sagittal sinus DAVFs were summarized by review of the literatures reported previously.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170831
[Lr] Last revision date:170831
[St] Status:In-Process
[do] DOI:10.1097/NRL.0000000000000137

  8 / 1194 MEDLINE  
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[PMID]: 28844842
[Au] Autor:Tischfield MA; Robson CD; Gilette NM; Chim SM; Sofela FA; DeLisle MM; Gelber A; Barry BJ; MacKinnon S; Dagi LR; Nathans J; Engle EC
[Ad] Address:Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA. Electronic address: max.tischfield@gmail.com.
[Ti] Title:Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura.
[So] Source:Dev Cell;42(5):445-461.e5, 2017 Sep 11.
[Is] ISSN:1878-1551
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Dural cerebral veins (CV) are required for cerebrospinal fluid reabsorption and brain homeostasis, but mechanisms that regulate their growth and remodeling are unknown. We report molecular and cellular processes that regulate dural CV development in mammals and describe venous malformations in humans with craniosynostosis and TWIST1 mutations that are recapitulated in mouse models. Surprisingly, Twist1 is dispensable in endothelial cells but required for specification of osteoprogenitor cells that differentiate into preosteoblasts that produce bone morphogenetic proteins (BMPs). Inactivation of Bmp2 and Bmp4 in preosteoblasts and periosteal dura causes skull and CV malformations, similar to humans harboring TWIST1 mutations. Notably, arterial development appears normal, suggesting that morphogens from the skull and dura establish optimal venous networks independent from arterial influences. Collectively, our work establishes a paradigm whereby CV malformations result from primary or secondary loss of paracrine BMP signaling from preosteoblasts and dura, highlighting unique cellular interactions that influence tissue-specific angiogenesis in mammals.
[Mh] MeSH terms primary: Bone Morphogenetic Proteins/metabolism
Cerebral Veins/abnormalities
Cerebral Veins/metabolism
Nuclear Proteins/metabolism
Signal Transduction
Skull/pathology
Stem Cells/metabolism
Twist-Related Protein 1/metabolism
[Mh] MeSH terms secundary: Animals
Cell Differentiation
Cerebral Arteries/growth & development
Cerebral Arteries/pathology
Cerebral Veins/pathology
Cranial Sutures/pathology
Craniosynostoses/genetics
Craniosynostoses/pathology
Dura Mater/pathology
Female
Humans
Mesoderm/metabolism
Mice
Mice, Mutant Strains
Mutation/genetics
Neural Crest/pathology
Osteoblasts
Paracrine Communication
Transverse Sinuses/pathology
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Bone Morphogenetic Proteins); 0 (Nuclear Proteins); 0 (TWIST1 protein, human); 0 (Twist-Related Protein 1); 136253-27-5 (Twist1 protein, mouse)
[Em] Entry month:1709
[Cu] Class update date: 171031
[Lr] Last revision date:171031
[Js] Journal subset:IM
[Da] Date of entry for processing:170829
[St] Status:MEDLINE

  9 / 1194 MEDLINE  
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[PMID]: 28828131
[Au] Autor:Kerolus MG; Tan LA; Lopes DK
[Ad] Address:Department of Neurosurgery, Rush University Medical Center, 1725 W. Harrison St. Ste 855, Chicago, IL 60612, USA.
[Ti] Title:Giant vein of Galen malformation in an adult.
[So] Source:Radiol Case Rep;12(3):585-589, 2017 Sep.
[Is] ISSN:1930-0433
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Vein of Galen malformations (VoGMs) are rare vascular malformations resulting from persistent shunting of primitive choroidal vessels into the median prosencephalic vein of Markowski. VoGMs are associated with poor clinical outcome with a reported 76.7% mortality if left untreated. We present an exceedingly rare case of a giant, untreated VoGM measuring 7.8 × 5.5 × 7 cm in a 42-year-old man. The embryologic origin, classification, clinical manifestations, and treatment options of VoGMs are discussed with a review of pertinent literature.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1708
[Cu] Class update date: 170825
[Lr] Last revision date:170825
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1016/j.radcr.2017.03.012

  10 / 1194 MEDLINE  
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[PMID]: 28689342
[Au] Autor:Orlov K; Gorbatykh A; Berestov V; Shayakhmetov T; Kislitsin D; Seleznev P; Strelnikov N
[Ad] Address:Division of Interventional Neuroradiology and Neurosurgery, E.N. Meshalkin Siberian Federal Biomedical Research Center, Rechkunovskaya St. 15, Novosibirsk, Russia, 630055.
[Ti] Title:Superselective transvenous embolization with Onyx and n-BCA for vein of Galen aneurysmal malformations with restricted transarterial access: safety, efficacy, and technical aspects.
[So] Source:Childs Nerv Syst;33(11):2003-2010, 2017 Nov.
[Is] ISSN:1433-0350
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:PURPOSE AND METHODS: Superselective transvenous embolization (TVE) with liquid embolic agents is a new concept in treatment of vein of Galen aneurysmal malformations (VGAM). We performed ten sessions of TVE in VGAM patients with restricted transarterial access. In this paper, we assessed clinical and angiographic outcomes of the proposed treatment and discussed three different TVE techniques with regard to morphology of the shunt and outflow tract. Safety and avoidance-of-complication tips were also discussed. RESULTS: Patient age ranged from 4 to 51 months. There were eight patients with choroidal VGAMs, seven of them were successfully treated with Onyx, and in one case, transvenous catheterization failed. In three cases, adjunctive coiling of draining vein was performed. In three cases, normal deep cerebral veins were connected to the outflow part of malformation; they were preserved during embolization in all cases. Six-month follow-up angiography demonstrated angiographic cure in six cases, and partial occlusion in one. There were two patients with mural VGAMs: both were treated with n-BCA. Partial occlusion was achieved in both cases. There was no procedure-related permanent morbidity or mortality. Oculomotor deficit due to quadrigeminal ischemia occurred in one case, and resolved completely after 3 weeks. CONCLUSION: TVE with liquid embolic agents is a safe and effective salvage method for VGAMs with restricted transarterial access, previously considered as poor candidates for endovascular treatment.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 171020
[Lr] Last revision date:171020
[St] Status:In-Process
[do] DOI:10.1007/s00381-017-3499-6


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