By Daniele Rigamonti MD
Questions concerning the nature and applicable administration of cavernous malformation (CM) have clouded researchers and people confronted with making medical judgements for a number of a long time. CMs could be obvious as an incidental discovering on MRI experiences, or they could current with signs, equivalent to seizures or intracranial hemorrhage, usually inflicting critical neurologic deficit. Cavernous Malformations of the fearful procedure presents a finished and authoritative evaluate of the present perform in analysis and administration of those cerebrovascular problems. Emphasis has been laid at the knowing of easy sciences with chapters devoted to realizing of CCM1, 2 and three genes and their function in CCM biology, in addition to medical genetics. debatable subject matters which proceed to pose therapy demanding situations reminiscent of protection of anticoagulation and prophylactic administration while pregnant also are mentioned. This e-book might be of curiosity to easy technological know-how researchers, neurosurgeons and vascular neurologists either in educational associations and personal perform.
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Additional resources for Cavernous Malformations of the Nervous System
16. , Batjer, B. A. & Awad, I. Intracranial cavernous angioma: a practical review of clinical and biological aspects. Surg Neurol 2005;63:319–328. 27 Section 1: Biology 17. , TournierLasserve, E. & Gaudric, A. Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study. Arch Ophthalmol 2006;124:885–886. 18. , TournierLasserve, E. & Labaug, P. Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations.
Solid arrow lines indicate the conﬁrmed gene-speciﬁc interactions. Dashed arrow lines indicate potential interactions based on the afﬁnity pull-down/MS analysis; however, further experiments are needed to conﬁrm whether the detected interaction is direct or not. 2. The domains and their functions of the CCM1 gene. The schematic diagram summarizes the domains and functions of full-length krit1 based on our current knowledge. Solid arrow lines indicate the conﬁrmed interactions with a speciﬁc domain.
3. , Drayer, B. , Johnson, P. , et al. Cerebral cavernous malformations. Incidence and familial occurence. New Engl J Med 1988;319:343–347. 6. Craig, H. , Johnson, E. , et al. 2–27. Hum Mol Genet 1998;7:1851–1855. 7. , Awad, I. , et al. A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans. New Engl J Med 1996;334:946–951. 8. , Jung, H. , et al. Mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet 1999;23:189–193. 9. , Johnson, E. , Thomas, J.
Cavernous Malformations of the Nervous System by Daniele Rigamonti MD