ARTERIOVENOUS malformationVISUAL fieldsPUPILLARY reflexOPTIC discPurpose: Emphasizing the importance of regular vision screening with visual fields and rapid MRI investigations where a field defect is unexplaine
This may represent a primary vascular malformation. There is abnormal low signal intensity within the superior sagittal sinus (long arrow). This is also suggestive of thrombosis. (b) T2 weighted spin echo (SE 2700/120) sequence. There is low signal intensity in the lateral and third ventricle...
CMV is thought to be the leading infectious cause of sensorineural hearing loss in the postrubella vaccination era, affecting approximately 10% of infected neonates. Mondini malformation with lack of interscalar septum, short and wide internal auditory canal and enlarged vestibular aqueduct are ...
Mutations in chromatin modifier and ephrin signaling genes in vein of Galen malformation. Neuron 101, 429–443 (2019). Article CAS PubMed Google Scholar McKenna, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, ...
Anomalous patterns of brain gyrification have been reported in major psychiatric disorders, presumably reflecting their neurodevelopmental pathology. However, previous reports presented conflicting results of patients having hyper-, hypo-, or normal gyri
Thecorpus callosumdevelops in utero between the tenth and twentieth week of gestation. Agenesis of the corpus callosum is a congenitalbrainmalformation in which this brain structure fails to develop, resulting in one out of 4,000 babies born without a corpus callosum. When it is missing, nothing...
A.: Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc Natl Acad Sci 91, 8102-8106 (1994)Muenke, M.; Gurrieri, F.; Bay, C.; Yi, D.H.; Collins, A.L.; Johnson, V.P.; Hennekam, R.C.; Schaefer, G.B.;...
We conducted a second search and introduced in the search bar the MeSH term “West syndrome” OR “infantile spasm syndrome” AND “inborn errors of metabolism” (320; 83 results), “brain malformation(s)” (1047; 461 results), “chromosome/chromosomal” (758; 214 results), “neurocutaneous...
Cerebral cavernous malformation pathogenesis: investigating lesion formation and progression with animal models. Int J Mol Sci. 2022;23(9):30. 163. Yang X, Dai Z, Gao C, Yin Y, Shi C, Liu R, Zhuge Q, Huang Y, Zhou B, Han Z, et al. Cerebral cavernous malformation development in ...
Deliberate employment of postoperative hypotension for brain arteriovenous malformation surgery and the incidence of delayed postoperative hemorrhage: a pr... OBJECTIVE The aim of this study was to examine the impact of deliberate employment of postoperative hypotension on delayed postoperative hemorrhage (...