DeepFLAIR: A neural network approach to mitigate signal and contrast loss in temporal lobes at 7 Tesla FLAIR images.

Background And Purpose: Higher magnetic field strength introduces stronger magnetic field inhomogeneities in the brain, especially within temporal lobes, leading to image artifacts. Particularly, T2-weighted fluid-attenuated inversion recovery (FLAIR) images can be affected by these artifacts. Here, we aimed to improve the FLAIR image quality in temporal lobe regions through image processing of multiple contrast images via machine learning using a neural network.

Advances in Image Processing for Epileptogenic Zone Detection with MRI.

Focal epilepsy is a common and severe neurologic disorder. Neuroimaging aims to identify the epileptogenic zone (EZ), preferably as a macroscopic structural lesion. For approximately a third of patients with chronic drug-resistant focal epilepsy, the EZ cannot be precisely identified using standard 3.

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.

Although genetic testing is increasingly used in clinical nephrology, a large number of patients with congenital abnormalities of the kidney and urinary tract (CAKUT) remain undiagnosed with current gene panels. Therefore, careful curation of novel genetic findings is key to improving diagnostic yields. We recently described a novel intellectual disability syndrome caused by de novo heterozygous loss-of-function mutations in the gene encoding the splicing factor SON.

State-of-the-Art Imaging in Human Chordoma of the Skull Base.

Purpose Of Review: Chordoma are rare tumours of the axial skeleton which occur most often at the base of the skull and in the sacrum. Although chordoma are generally slow-growing lesions, the recurrence rate is high and the location makes it often difficult to treat. Both computed tomography (CT) and magnetic resonance imaging (MRI) are crucial in the initial diagnosis, treatment planning and post-treatment follow-up.

Abnormal Profiles of Local Functional Connectivity Proximal to Focal Cortical Dysplasias.

Introduction: Focal cortical dysplasia (FCD) is a congenital malformation of cortical development that often leads to medically refractory epilepsy. Focal resection can be an effective treatment, but is challenging as the surgically relevant abnormality may exceed the MR-visible lesion. The aim of the current study is to develop methodology to characterize the profile of functional connectivity around FCDs using resting-state functional MRI and in the individual patient.

Posttraumatic skull hemangioma: case report.

Intraosseous cavernous hemangiomas of the skull are rare lesions for which the origin is unclear. The authors present a case in which there was a radiologically documented history of trauma preceding the development of a hemangioma in the frontal bone. In a review of the literature the authors found 83 cases of skull hemangiomas, and 43% of the lesions were located in the frontal bone.

The clinical spectrum of Blake's pouch cyst: report of six illustrative cases.

Introduction: Although Blake's pouch cyst (BPC) is frequently mentioned in the spectrum of posterior fossa cysts and cystlike malformations since its first description in 1996, its natural history, clinical presentation, specific imaging characteristics, optimal treatment, and outcome are relatively unknown. Consequently, BPC may still be underdiagnosed. We therefore report six cases ranging from a fatal hydrocephalus in a young boy, over an increasing head circumference with or without impaired neurological development in two infants, to a decompensating hydrocephalus at an advanced age.

Carotid artery pulse wave time characteristics to quantify ventriculoarterial responses to orthostatic challenge.

Central blood pressure waveforms contain specific features related to cardiac and arterial function. We investigated posture-related changes in ventriculoarterial hemodynamics by means of carotid artery (CA) pulse wave analysis. ECG, brachial cuff pressure, and common CA diameter waveforms (by M-mode ultrasound) were obtained in 21 healthy volunteers (19-30 yr of age, 10 men and 11 women) in supine and sitting positions.

The onset of ventricular isovolumic contraction as reflected in the carotid artery distension waveform.

The blood pressure waveform carries information about the cardiac contraction and the impedance characteristics of the vascular bed. Here, we demonstrate that the start of isovolumic ventricular contraction is persistently reflected as an inflection point in the pressure wave as recorded in the aortic root (TP(IC)) as well as in the carotid artery distension waveform (TD(IC)) as it travels down the arterial tree. In a group of six patients with normal pressure gradients across the aortic valve after valve replacement, the TP(IC) had a small delay with respect to the onset of isovolumic ventricular contraction (<10 ms).