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1.
Asian J Neurosurg ; 13(2): 324-328, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29682029

RESUMO

INTRODUCTION: Intracranial meningiomas account for 30% of all primary intracranial tumors. Surgical resection remains the mainstay of the treatment for meningiomas. The magnetic resonance of intracranial meningiomas has been largely discussed in many reports of the radiological and neurosurgical literature. To date, a few studies have been attempted to differentiate the tumor characteristics of meningiomas based on magnetic resonance imaging (MRI) studies. OBJECTIVE: The objective of the study is to evaluate the relationship between MRI signal characteristics of intracranial meningiomas and consistency of tumor using objective measures. MATERIALS AND METHODS: A prospective study included all the patients who were admitted for surgery with an MRI finding suggestive of meningioma. All patients were subjected to routine radiological investigations. Surgical resection was performed for patients eligible for surgery using cavitron ultrasonic aspirator (CUSA). The relationship and correlation between the radiological, intraoperative measurements and the histopathological diagnosis were studied. The tumor consistency was measured using mean CUSA level. Intensity on T2, fluid-attenuated inversion recovery (FLAIR), and diffusion-weighted imaging (DWI) was measured using circular regions of interest (ROI) on the MRI. Multiple ROIs were placed initially on the lesions avoiding the obvious blood vessels, if any, then on the brain cortex to avoid the vasogenic edema. The mean ROI (mROI) results from the lesion were subtracted from the mean ROI from the brain cortex for each lesion to achieve normalized ratio. The results of lesion mROI-cortex mROI were compared to the operative and histopathology results using Pearson's correlation test and linear regression test. RESULTS: The total number of patients was seventy. The mean age of the patients was 51 ± 14.8, with 72% of them being females and 28% males. There was a strong statistically significant (P = 0.046) and (P = 0.003) correlation between mean CUSA and FLAIR mROI difference or T2 mROI difference, respectively. On the other hand, there was an inversely proportional relationship between mean CUSA and FLAIR mROI difference and mean CUSA and T2 mROI difference. The value of the regression test (r) shows that there was a slight linear relationship between FLAIR mROI difference or T2 mROI difference and mean CUSA values, in which the mean CUSA value = 50.1 + (-0.088) × FLAIR mROI difference (r = -0.273, P = 0.046) or mean CUSA value = 50.8 + (-0.055) × T2 mROI difference (r = 0.4, P = 0.003). There was no statistical significance in the relation between CUSA values and tumor histological subtypes, DWI values, age, or gender. CONCLUSION: This study presents a new objective method to measure the consistency of intracranial meningiomas based on a simple algorithmic formula. Such information will aid in planning surgery and assessing the resectability of the tumor. To date, this is the first objective measurement of meningioma consistency based on MRI studies and objective intraoperative evaluation.

2.
Nat Genet ; 49(4): 606-612, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28250456

RESUMO

Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commissures whose development is tightly regulated. Here we report a new human syndrome in which these commissures are widely disrupted, thus causing clinical manifestations of horizontal gaze palsy, scoliosis, and intellectual disability. Affected individuals were found to possess biallelic loss-of-function mutations in the gene encoding the axon-guidance receptor 'deleted in colorectal carcinoma' (DCC), which has been implicated in congenital mirror movements when it is mutated in the heterozygous state but whose biallelic loss-of-function human phenotype has not been reported. Structural MRI and diffusion tractography demonstrated broad disorganization of white-matter tracts throughout the human central nervous system (CNS), including loss of all commissural tracts at multiple levels of the neuraxis. Combined with data from animal models, these findings show that DCC is a master regulator of midline crossing and development of white-matter projections throughout the human CNS.


Assuntos
Encéfalo/anormalidades , Neoplasias Colorretais/genética , Regulação da Expressão Gênica no Desenvolvimento/genética , Perda de Heterozigosidade/genética , Mutação/genética , Sistema Nervoso Central/anormalidades , Feminino , Humanos , Deficiência Intelectual/genética , Masculino , Neurônios/metabolismo , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Receptores de Superfície Celular/genética
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