This study demonstrates normal white matter structures of the supratentorial system revealed by diffusion tensor imaging. Their anatomic connections and functional significance are discussed in the context of the lesion-induced deficits reported in the literature, which may not fully represent the lesion-induced effects on the white matter function and may not be entirely specific to the tract discussed. Nevertheless, understanding the most common effects of lesions on the functional connectivity provides a framework that we can use in advanced neuroimaging studies, like diffusion tensor imaging, functional magnetic resonance imaging, and positron emission tomography, and in our daily clinical practice.
Aim: To describe the radiological findings of idiopathic granulomatous mastitis (IGM). Material and methods: Radiologic findings of 30 women with histopathological diagnosis of IGM were retrospectively evaluated. All had breast feeding history. All the patients had ultrasonography (US), with 12 of them having additional Doppler US. Of 30 patients, 11 had mammography (MG) and 5 MRI. Results: US showed multiple irregular hypoechoic masses and collection areas with tubular connections in 25 of 30. The collection area with low-level internal echoes but without tubular connections, suggesting an abscess were seen in 2 of 30 (6.6%); a hypoechoic mass with an indistinct border in 2 of 30 (6.6%); multiple milimetric hypoechoic nodular masses in 1 of 30 (3.3%). On MG, normal findings were noted in 5 (45.4%); focal asymmetric density in 4 (36.4%), parenchymal distortion in 1 (9%) and diffuse asymmetric opacity with trabecular thickening in 1 (9%) of 30 patients. On MRI, segmental T2 hyperintensity with contrast-enhancement on T1 were seen in 4 of 5 (80%). An enhancing T2 hypointense mass with irregular margin was present in 1 of 5 (20%). Time-signal intensity curve of lesions showed slow enhancement in 1 and moderate in 4 of 5 patients. Conclusions: In IGM, MG findings were nonspecific. In US, multiple irregular hypoechoic masses and collections with tubular connections with fingerlike aspects, and fistulae formation to the skin in patients with breastfeeding history suggested IGM rather than carcinoma. Due to the limited number of patients, no conclusion was reached regarding MRI of IGM.
Background:The KCNMA1 gene encodes the α-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability. Heterozygous mutations in KCNMA1 were first illustrated in a large family with generalized epilepsy and paroxysmal nonkinesigenic dyskinesia. Recent research has established homozygous KCNMA1 mutations accountable for the phenotype of cerebellar atrophy, developmental delay, and seizures.Case Report:Here, we report the case of a patient with a novel homozygous truncating mutation in KCNMA1 (p.Arg458Ter) presenting with both the loss- and gain-of-function phenotype with paroxysmal dyskinesia, epilepsy, intellectual delay, and corticospinal–cerebellar tract atrophy.Conclusion:This report extends the KNCMA1 mutation phenotype with a patient who carries a novel frameshift variant, presenting with both the gain- and loss-of-function phenotypes along with spinal tract involvement as a novel characteristic.
In SAH patients, if there is a macrovascular vasospasm with luminal narrowing >or=50%, there is a high likelihood (83%) of perfusion abnormality in the territory of the vasospastic vessel. There may also be perfusion abnormality without macrovascular vasospasm in the watershed areas or in the vicinity of sulcal clots.
Diffusion Tensor Imaging (DTI) is a new MRI imaging technique sensitive to directional movements of water molecules, induced by tissue barriers. This provides a new form of contrast that allows the identification of functional white matter tracts within the brain, and has been proposed as a technique suitable for presurgical planning in brain tumor patients. Resection of primary brain tumors improves survival, functional performance, and the effectiveness of adjuvant therapies, provided that surgically-induced neurological deficits can be avoided.Diffusion Tensor Imaging (DTI) has the potential to establish spatial relationships between eloquent white matter and tumor borders, provide information essential to preoperative planning, and improve the accuracy of surgical risk assessments preoperatively. We present our experience in a series of 28 brain tumor patients where the integration of functional magnetic resonance imaging (fMRI) and DTI data was used to determine key anatomic spatial relationships preoperatively. Twice as many functional systems were localized to within 5 mm of tumor borders when DTI and fMRI were utilized for preoperative planning, compared to that afforded by fMRI alone. Our results show that the combined use of fMRI and DTI can provide a better estimation of the proximity of tumor borders to eloquent brain systems sub-serving language, speech, vision, motor and premotor functions. Additionally, a low regional complication rate (4%) observed in our series suggests that preoperative planning with these combined techniques may improve surgical outcomes compared to that previously reported in the literature. Larger studies specifically designed to establish the accuracy and predictive value of DTI in brain tumor patients are warranted to substantiate our preliminary observations.
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