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Cavernous malformation

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https://www.readbyqxmd.com/read/28645800/high-throughput-sequencing-of-the-entire-genomic-regions-of-ccm1-krit1-ccm2-and-ccm3-pdcd10-to-search-for-pathogenic-deep-intronic-splice-mutations-in-cerebral-cavernous-malformations
#1
Matthias Rath, Sönke E Jenssen, Konrad Schwefel, Stefanie Spiegler, Dana Kleimeier, Christian Sperling, Lars Kaderali, Ute Felbor
Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can cause headaches, seizures and hemorrhagic stroke. Disease-associated mutations have been identified in three genes: CCM1/KRIT1, CCM2 and CCM3/PDCD10. The precise proportion of deep-intronic variants in these genes and their clinical relevance is yet unknown. Here, a long-range PCR (LR-PCR) approach for target enrichment of the entire genomic regions of the three genes was combined with next generation sequencing (NGS) to screen for coding and non-coding variants...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28643038/prevalence-of-cerebral-cavernous-malformations-associated-with-developmental-venous-anomalies-increases-with-age
#2
Waleed Brinjikji, Ali El-Rida El-Masri, John T Wald, Kelly D Flemming, Giuseppe Lanzino
BACKGROUND AND PURPOSE: To test the hypothesis that the prevalence of cerebral cavernous malformation (CCM) associated with developmental venous anomalies (DVAs) increases with age, we studied the age-related prevalence of DVA-associated CCM among patients with DVAs. MATERIALS AND METHODS: Patients with DVAs on contrast-enhanced MRI exams performed over a 2-year period were included in this study. A single neuroradiologist reviewed all imaging exams for the presence of CCMs...
June 22, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28634821/cavernous-malformations-of-central-nervous-system-in-pediatric-patients-our-single-centered-experience-in-50-patients-and-review-of-literature
#3
Dattaraj Paramanand Sawarkar, Suveen Janmatti, Rajinder Kumar, Pankaj Kumar Singh, Hitesh Kumar Gurjar, Shashank Sharad Kale, Bhawani Shanker Sharma, Ashok Kumar Mahapatra
PURPOSE: Cavernous malformations (CMs) are rare developmental cerebrovascular malformations of the central nervous system with a childhood prevalence of 0.3 to 0.53%. Our purpose was to assess the clinical features and microsurgical outcome in pediatric central nervous system (CNS) CMs. MATERIAL AND METHODS: We retrospectively enrolled all the CM patients admitted to our institute from 1 January 2001 to 31 December 2014. Data was analyzed for their clinical features and surgical outcome...
June 20, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28607828/a-rare-association-of-ganglioglioma-and-cavernous-malformation-report-of-two-cases-and-literature-review
#4
Biagio R Carangelo, Giovanni Muscas, Clelia Miracco, Vitaliano F Muzii
BACKGROUND: Some glial tumors have been observed in association with different types of vascular malformations of the brain (angiogliomas). However, the association of ganglioglioma with other vascular malformations is extremely rare, with only few cases reported in the literature, one of which is referred to as "angioganglioglioma." CASE DESCRIPTION: Two patients presented with acute onset of neurological symptoms, with magnetic resonance imaging (MRI) finding of cavernoma of the left middle cerebellar penduncle, and small mass of the chiasmatic region, respectively...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28602929/hereditary-multiple-cerebral-cavernous-malformations-associated-with-wilson-s-disease-and-multiple-lypomatosis-case-report
#5
Belousova Olga, Okishev Dmitry, Ignatova Tatyana, Balashova Maria, Boulygina Eugene
We report on the patient with two Mendelian diseases - symptomatic multiple familial cerebral cavernous malformations (FCCMs) and Wilson's disease. Genetic analysis revealed SNPs in genes CCM2 and CCM3, associated with cavernous malformations, and homozygote mutation in ATP7B gene, responsible for Wilson's disease. FCCMs were symptomatic in three generations. The patient had also multiple lipomatosis, which is suggested to be a familial syndrome. In recent years there has been an increasing amount of publications on the link of FCCMs with other pathology, predominantly with extracranial and intracranial mesenchymal anomalies...
June 8, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28593889/circonscript-subcutaneous-arteriovenous-malformation-of-the-head
#6
Vladimir Mirchevski, Elizabeta Zogovska, Aleksandar Chaparoski, Venko Filipce, Milenko Kostov, Mirko Mishel Mirchevski
The aim of this study is to show the various possibilities to treat this rare malformation, accentuating the results of the early surgical treatment before complications. MATERIAL: The authors present 8 cases of patients with subcutaneous arteriovenous malformations, 5 females and 3 males (age of 7, 13, 19, 23, 27, 52 and 58 years) treated in the period of 1999 until 2015 at the Clinic for Neurosurgery and the Clinic for Plastic, Aesthetic and Reconstructive Surgery in Skopje, Republic of Macedonia...
March 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/28590989/-it-s-not-a-tumor-a-rare-case-of-symptomatic-cerebellar-developmental-venous-anomaly
#7
Julie A Augenstein, Teresa Chapman, Michael J McNeil, Mark D Lo
Cerebral developmental venous anomalies (DVAs) are benign anatomical variants of the venous system and are commonly described as an incidental finding without clinical significance. Neurologic symptoms or abnormal examination findings are rare and usually attributed to hemorrhagic complications related to coexisting cavernous malformations. There have been limited case reports of symptomatic, uncomplicated DVAs described in the literature. The following case describes a previously healthy child who presented to the emergency department with an acute onset of altered mental status, headache, and focal neurologic examination abnormalities...
June 6, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28586486/fasudil-slows-development-of-cavernous-malformations
#8
Gregory M Weiner, Andrew F Ducruet
No abstract text is available yet for this article.
May 1, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28552155/pharmacotherapy-for-cavernous-malformations
#9
Robert F Rudy, Rose Du
Cerebral cavernous malformations, vascular abnormalities comprised of endothelial cells in the absence of connective tissue or muscle, are often epileptogenic and often treated initially with antiepileptic drugs. This chapter discusses the role of pharmacotherapy in managing focal epilepsy secondary to cavernous malformations in adults, children, and pregnant women. Several drugs are available and potentially efficacious in suppressing seizures stemming from cavernous malformations. In addition, antiepileptic pharmacotherapy following surgical resection is indicated to decrease the risk of postoperative seizures...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552154/spinal-cavernous-malformations
#10
Aaron J Clark, Doris D Wang, Michael T Lawton
Spinal cavernous malformations are rare intramedullary vascular lesions of the central nervous system. Most are located in the thoracic spine. Patients present with either acute neurologic deficit or gradual deterioration. Weakness is the most common presenting symptom. The annual hemorrhage risk is 2.1%. Diagnosis is made by magnetic resonance imaging as these lesions are occult on angiography. Surgical removal is indicated in patients with hemorrhage and neurologic deficit. All lesions are approached posteriorly by laminectomy...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552153/thalamic-cavernous-malformations
#11
Christina E Sarris, Gursant S Atwal, Peter Nakaji
Cavernous malformations of the thalamus represent a particularly complex subset of cavernous malformations because of the highly eloquent nature of the involved tissue and their deep location. The decision about whether to operate on any individual lesion depends on the specific location of the lesion within the thalamus, the nature of the patient's symptoms, and the patient's history. When surgery is recommended, the approach must be chosen carefully. Each part of the thalamus is reached by a different surgical approach...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552152/brainstem-and-cerebellar-cavernous-malformations
#12
Gursant S Atwal, Christina E Sarris, Robert F Spetzler
Cavernous malformations are vascular lesions that occur throughout the central nervous system, most commonly in the supratentorial location, with brainstem and cerebellar cavernous malformations occurring more rarely. Cavernous malformations are associated with developmental venous anomalies that occur sporadically or in familial form. Patients with a cavernous malformation can present with headaches, seizures, sensorimotor disturbances, or focal neurologic deficits based on the anatomic location of the lesion...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552151/supratentorial-cavernous-malformations
#13
Jason A Ellis, Daniel L Barrow
Supratentorial cavernous malformations are uncommon cerebral vascular lesions that may present many unique challenges for treating physicians. The vast majority will be discovered during workup for seizures or after symptomatic intracerebral hemorrhage. Supratentorial cavernous malformations are increasingly being discovered incidentally in patients who obtain brain imaging for unrelated reasons. Management strategies including watchful waiting, antiepileptic drug therapy, microsurgery, or an expanding array of "minimally invasive" therapies...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552150/developmental-venous-anomalies
#14
Michael A Mooney, Joseph M Zabramski
Developmental venous anomalies (DVAs) are relatively common lesions, present in up to 3% of the population. The defining characteristic of these lesions is the confluence of radially oriented veins into a single dilated venous channel. DVAs are also known as cerebral venous angiomas, cerebral venous malformations, and cerebral venous medullary malformations. They are the most common type of cerebral vascular malformation found on autopsy studies, and they are often encountered as incidental findings on neuroimaging studies...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552149/pathology-of-cavernous-malformations
#15
Efrem M Cox, Nicholas C Bambakidis, Mark L Cohen
Cavernous malformations (CMs) are low-pressure angiographically occult lesions, composed of blood-filled sinusoidal locules known as "caverns." Although these lesions were once believed to be congenital in nature, there is compelling evidence to support de novo formation of CMs as well. They can occur as sporadic lesions or be inherited in an autosomal-dominant phenotype in familial forms of the disease. The pathophysiology of CMs is commonly believed to be due to abnormal vascular pathology. Three genes, CCM1, CCM2, and CCM3, have been extensively studied for their role in vascular pathology, resulting in abnormal angiogenesis and compromising the structural integrity of vessel endothelial cell...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552147/radiology-and-imaging-for-cavernous-malformations
#16
Kevin Y Wang, Oluwatoyin R Idowu, Doris D M Lin
Cavernous malformations are low-flow vascular malformations that are histologically characterized by the lack of mural elements of mature vascular structures and intervening parenchymal neural tissue. They are often clinically quiescent, and may grow, bleed, and regress, but can also manifest clinically as neurologic deficits or seizures in the setting of an acute hemorrhage. The low-flow nature of cavernous malformations renders them inherently occult on cerebral angiography. Magnetic resonance imaging has become the mainstay imaging modality in evaluating cavernous malformations, producing characteristic imaging features that usually provide a straightforward diagnosis...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552146/epidemiology-of-cavernous-malformations
#17
Hannah E Goldstein, Robert A Solomon
Cavernous malformations, accounting for approximately 5-15% of all vascular abnormalities in the central nervous system, are angiographically occult lesions which most often present with seizures, rather than acute hemorrhage. Widely variable across populations, the incidence of cavernous malformations has been reported to be 0.15-0.56 per 100 000 persons per year, with an annual hemorrhage rate of 0.6-11% per patient-year. Seen in 0.17-0.9% of the population, up to one-half are familial, and at least three gene loci have been associated with a familial form, more common among Hispanic Americans...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552145/natural-history-of-spinal-cavernous-malformations
#18
Marc Otten, Paul Mccormick
Spinal cavernous malformations are intramedullary vascular lesions. They have low pressure and flow, so they may take many years to present with clinical symptoms. Because of their relatively benign nature, surgical intervention is not always indicated. An understanding of the natural history of cavernous malformations helps make decisions about when and if to intervene. In patients who do not have surgery, 88.7% have stable or improved neurologic function, whereas 89.3% have these outcomes in the surgical group...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552144/natural-history-of-cerebral-cavernous-malformations
#19
Chibawanye Ene, Anand Kaul, Louis Kim
Cerebral cavernous malformations (CCM) are vascular abnormalities of the central nervous system with an incidence of 0.4-0.5% and an annual rate of hemorrhage ranging from 0.7% to 1%. Most lesions are located in the cerebral hemisphere but some occur in deeper locations such as the basal ganglia and pons. The most common symptoms during presentation are headache, seizures, and focal neurologic deficits. Surgery remains the most effective treatment modality for symptomatic CCM, while the management of incidental CCM remains controversial...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28548106/cerebrovascular-malformations-microbiota-promotes-cerebral-cavernous-malformations
#20
Charlotte Ridler
No abstract text is available yet for this article.
May 26, 2017: Nature Reviews. Neurology
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