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https://www.readbyqxmd.com/read/28690583/correlating-interictal-spikes-with-sigma-and-delta-dynamics-during-non-rapid-eye-movement-sleep
#1
Frédéric Zubler, Annalisa Rubino, Giorgio Lo Russo, Kaspar Schindler, Lino Nobili
Interictal spikes (IS) are one of the major hallmarks of epilepsy. Understanding the factors promoting or suppressing IS would increase our comprehension of epilepsy and possibly open new avenues for therapy. Sleep strongly influences epileptic activity, and the modulatory effects of the different sleep stages on IS have been studied for decades. However, several aspects are still disputed, in particular the role of sleep spindles and slow waves in the activation of IS during Non-REM sleep. Here, we correlate the rate of IS with quantitative measures derived from stereo-EEG during one Non-REM cycle in 10 patients suffering from drug-resistant epilepsy due to type 2 focal cortical dysplasia...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28677066/tubulin-related-cerebellar-dysplasia-definition-of-a-distinct-pattern-of-cerebellar-malformation
#2
Romina Romaniello, Filippo Arrigoni, Elena Panzeri, Andrea Poretti, Alessia Micalizzi, Andrea Citterio, Maria Francesca Bedeschi, Angela Berardinelli, Margherita Cusmai, Stefano D'Arrigo, Alessandro Ferraris, Annette Hackenberg, Alma Kuechler, Margherita Mancardi, Sara Nuovo, Barbara Oehl-Jaschkowitz, Andrea Rossi, Sabrina Signorini, Frank Tüttelmann, Dagmar Wahl, Ute Hehr, Eugen Boltshauser, Maria Teresa Bassi, Enza Maria Valente, Renato Borgatti
OBJECTIVE: To determine the neuroimaging pattern of cerebellar dysplasia (CD) and other posterior fossa morphological anomalies associated with mutations in tubulin genes and to perform clinical and genetic correlations. METHODS: Twenty-eight patients harbouring 23 heterozygous pathogenic variants (ten novel) in tubulin genes TUBA1A (n = 10), TUBB2B (n = 8) or TUBB3 (n = 5) were studied by a brain MRI scan performed either on a 1.5 T (n = 10) or 3 T (n = 18) MR scanner with focus on the posterior fossa...
July 4, 2017: European Radiology
https://www.readbyqxmd.com/read/28676968/melorheostosis-a-rare-sclerosing-bone-dysplasia
#3
REVIEW
Anupam Kotwal, Bart L Clarke
PURPOSE OF REVIEW: Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we describe the natural history, radiological features, proposed pathogenesis, and management options for this debilitating condition. RECENT FINDINGS: Since its first description in 1922, about 400 cases of melorheostosis have been reported, either as single reports or in small case series...
July 4, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28675562/innate-and-adaptive-immunity-in-human-epilepsies
#4
Jan Bauer, Albert J Becker, Wassim Elyaman, Jukka Peltola, Stephan Rüegg, Maarten J Titulaer, James A Varley, Ettore Beghi
Inflammatory mechanisms have been increasingly implicated in the origin of seizures and epilepsy. These mechanisms are involved in the genesis of encephalitides in which seizures are a common complaint. Experimental and clinical evidence suggests different inflammatory responses in the brains of patients with epilepsy depending on the etiology. In general, activation of both innate and adaptive immunity plays a role in refractory forms of epilepsy. Epilepsies in which seizures develop after infiltration of cells of the adaptive immune system in the central nervous system (CNS) include a broad range of epileptic disorders with different (known or unknown) etiologies...
July 2017: Epilepsia
https://www.readbyqxmd.com/read/28673671/relationship-among-clinical-pathological-and-bio-molecular-features-in-low-grade-epilepsy-associated-neuroepithelial-tumors
#5
Gianfranco Vornetti, Gianluca Marucci, Corrado Zenesini, Dario de Biase, Roberto Michelucci, Paolo Tinuper, Giovanni Tallini, Marco Giulioni
The aim of this study was to evaluate the relationship between molecular markers and clinicopathological features in patients operated on for low-grade epilepsy-associated neuroepithelial tumors. Molecular-genetic signatures are becoming increasingly important in characterizing these lesions, which represent the second most common cause of focal epilepsy in patients undergoing epilepsy surgery. Data from 22 patients operated on for histopathologically confirmed low-grade epilepsy-associated neuroepithelial tumors were retrospectively collected...
June 30, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28673029/predictive-factors-of-surgical-outcome-in-frontal-lobe-epilepsy-explored-with-stereoelectroencephalography
#6
Francesca Bonini, Aileen McGonigal, Didier Scavarda, Romain Carron, Jean Régis, Henry Dufour, Jean-Claude Péragut, Virginie Laguitton, Nathalie Villeneuve, Patrick Chauvel, Bernard Giusiano, Agnès Trébuchon, Fabrice Bartolomei
BACKGROUND: Resective surgery established treatment for pharmacoresistant frontal lobe epilepsy (FLE), but seizure outcome and prognostic indicators are poorly characterized and vary between studies. OBJECTIVE: To study long-term seizure outcome and identify prognostic factors. METHODS: We retrospectively analyzed 42 FLE patients having undergone surgical resection, mostly preceded by invasive recordings with stereoelectroencephalography (SEEG)...
June 29, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28670168/value-of-repeat-brain-mri-in-children-with-focal-epilepsy-and-negative-findings-on-initial-mri
#7
Tae Yeon Jeon, Ji Hye Kim, Jeehun Lee, So-Young Yoo, Sook Min Hwang, Munhyang Lee
OBJECTIVE: To evaluate the value of repeat brain magnetic resonance imaging (MRI) in identifying potential epileptogenic lesions in children with initial MRI-negative focal epilepsy. MATERIALS AND METHODS: Our Institutional Review Board approved this retrospective study and waived the requirement for informed consent. During a 15-year period, 257 children (148 boys and 109 girls) with initial MRI-negative focal epilepsy were included. After re-evaluating both initial and repeat MRIs, positive results at repeat MRI were classified into potential epileptogenic lesions (malformation of cortical development and hippocampal sclerosis) and other abnormalities...
July 2017: Korean Journal of Radiology: Official Journal of the Korean Radiological Society
https://www.readbyqxmd.com/read/28633092/epilepsy-in-neurofibromatosis-type-1
#8
Anthony Pecoraro, Eric Arehart, William Gallentine, Rodney Radtke, Edward Smith, Carolyn Pizoli, Sujay Kansagra, Elie Abdelnour, Roger McLendon, Mohamad A Mikati
OBJECTIVES: To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1). METHODS: Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period. RESULTS: Of the 184 NF1 patients seen during that period, 26 had epilepsy and three had febrile seizures. Of the 26, 17 (65%) had localization-related epilepsy, seven of whom (41%) were drug resistant. Six (23%) had apparently primary generalized epilepsy (0/6 drug resistant), two (8%) Lennox-Gastaut syndrome, and one (4%) West syndrome (all three were drug-resistant)...
June 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28621626/a-multimodal-concept-for-invasive-diagnostics-and-surgery-based-on-neuronavigated-voxel-based-morphometric-mri-postprocessing-data-in-previously-nonlesional-epilepsy
#9
Daniel Delev, Carlos M Quesada, Alexander Grote, Jan P Boström, Christian Elger, Hartmut Vatter, Rainer Surges
OBJECTIVE Diagnosis and surgical treatment of refractory and apparent nonlesional focal epilepsy is challenging. Morphometric MRI voxel-based and other postprocessing methods can help to localize the epileptogenic zone and thereby support the planning of further invasive electroencephalography (EEG) diagnostics, and maybe resective epilepsy surgery. METHODS The authors developed an algorithm to implement regions of interest (ROI), based on postprocessed MRI data, into a neuronavigation tool. This was followed by stereotactic ROI-guided implantation of depth electrodes and ROI-navigated resective surgery...
June 16, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28612056/critical-appraisal-of-the-top-down-approach-for-vesicoureteral-reflux
#10
REVIEW
Ahmed Abdelhalim, Antoine E Khoury
Vesicoureteral reflux (VUR) has been linked to recurrent urinary tract infections (UTIs), renal scarring, hypertension, renal insufficiency and end-stage kidney disease. Different imaging strategies have been proposed to approach children presenting with UTI to sort out patients with significant VUR while minimizing patient morbidity, radiation exposure and financial burden. None of these imaging strategies is universally accepted. The"top-down approach" (TDA) aims at restricting the number of voiding cystourethrograms (VCUGs) and its associated morbidity while identifying patients with clinically-significant reflux...
June 2017: Investigative and Clinical Urology
https://www.readbyqxmd.com/read/28609639/the-iliofemoral-line-a-radiographic-sign-of-acetabular-dysplasia-in-the-adult-hip
#11
Matthew J Kraeutler, Zachary R Ashwell, Tigran Garabekyan, Jesse A Goodrich, K Linnea Welton, Jonathan A Flug, John N O'Hara, Omer Mei-Dan
BACKGROUND: Several radiographic parameters utilized for the diagnosis of acetabular dysplasia in adults suffer from poor reproducibility and reliability. PURPOSE: To define and validate a novel radiographic parameter (the iliofemoral line [IFL]) for the detection of frank and borderline hip dysplasia and to compare the sensitivity and specificity of this radiographic marker to those of previously validated qualitative parameters. STUDY DESIGN: Cohort study (diagnosis); Level of evidence, 2...
June 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28601171/a-practical-approach-to-supratentorial-brain-malformations-what-radiologists-should-know
#12
REVIEW
Edward Yang, Winnie C W Chu, Edward Y Lee
For general radiologists, congenital brain malformations pose substantial challenges in terms of recognition, description, and classification. This review describes a practical approach to imaging and classifying the most common supratentorial brain malformations. It begins with a discussion of embryology and optimal imaging technique and then summarizes distinguishing imaging features for several major categories of cerebral malformation, including holoprosencephaly, gray matter heterotopia, lissencephaly/pachygyria, focal cortical dysplasia, polymicrogyria, and cobblestone malformation...
July 2017: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/28598277/surgical-strategy-to-avoid-ischemic-complications-of-the-pyramidal-tract-in-resective-epilepsy-surgery-of-the-insula-technical-case-report
#13
Naoki Ikegaya, Akio Takahashi, Takanobu Kaido, Yuu Kaneko, Masaki Iwasaki, Nobutaka Kawahara, Taisuke Otsuki
Surgical treatment of the insula is notorious for its high probability of motor complications, particularly when resecting the superoposterior part. Ischemic damage to the pyramidal tract in the corona radiata has been regarded as the cause of these complications, resulting from occlusion of the perforating arteries to the pyramidal tract through the insular cortex. The authors describe a strategy in which a small piece of gray matter is spared at the bottom of the periinsular sulcus, where the perforating arteries pass en route to the pyramidal tract, in order to avoid these complications...
June 9, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28588433/intragenic-cntnap2-deletions-a-bridge-too-far
#14
REVIEW
Martin Poot
Intragenic deletions of the contactin-associated protein-like 2 gene (CNTNAP2) have been found in patients with Gilles de la Tourette syndrome, intellectual disability (ID), obsessive compulsive disorder, cortical dysplasia-focal epilepsy syndrome, autism, schizophrenia, Pitt-Hopkins syndrome, stuttering, and attention deficit hyperactivity disorder. A variety of molecular mechanisms, such as loss of transcription factor binding sites and perturbation of penetrance and expressivity, have been proposed to account for the phenotypic variability resulting from CNTNAP2 mutations...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28580818/xanthomatous-posttraumatic-fibro-osseous-lesion-of-the-rib-a-rare-and-underrecognized-entity-case-report-and-literature-review
#15
Hussein Nassereddine, Frédérique Larousserie, Raphaël Campagna, Yves Castier, Anne Couvelard, Laurence Choudat, Aurélie Sannier
Posttraumatic fibro-osseous lesion (PTFOL) is a rare lesion that typically affects the ribs and is probably a posttraumatic reactive process. Because PTFOL is often misdiagnosed as fibrous dysplasia, osteoid osteoma, benign fibrous histiocytoma or rib metastases, chest wall resection, leading to a significant morbidity, is the main treatment modality. We report the case of a 30-year-old male patient with no history of previous trauma presenting with chest pain. Computed tomography scan showed an eighth left rib well-defined ovoid and hypodense lesion with circumferential sclerotic margin and no cortical breakthrough...
June 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28577347/neuroradiographic-findings-in-22q11-2-deletion-syndrome
#16
Lauren A Bohm, Tom C Zhou, Tyler J Mingo, Sarah L Dugan, Richard J Patterson, James D Sidman, Brianne B Roby
22q11.2 deletion syndrome (22q11.2DS) is a common genetic disorder with enormous phenotypic heterogeneity. Despite the established prevalence of developmental and neuropsychiatric issues in this syndrome, its neuroanatomical correlates are not as well understood. A retrospective chart review was performed on 111 patients diagnosed with 22q11.2DS. Of the 111 patients, 24 with genetically confirmed 22q11.2 deletion and brain MRI or MRA were included in this study. The most common indications for imaging were unexplained developmental delay (6/24), seizures of unknown etiology (5/24), and unilateral weakness (3/24)...
June 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28565831/clinical-characteristics-and-epilepsy-outcomes-following-surgery-caused-by-focal-cortical-dysplasia-type-iia-in-110-adult-epileptic-patients
#17
Yuqiang Sun, Xiaofeng Wang, Ningwei Che, Huamin Qin, Shuping Liu, Xinling Wu, Minghai Wei, Huakun Cheng, Jian Yin
The aim of the present study was to investigate the effects of surgical intervention of focal cortical dysplasia (FCD) IIa on the outcome of epilepsy, and to evaluate the prognostic factors of seizure freedom. Patient data from epilepsy surgeries were retrospectively reviewed at the Second Affiliated Hospital of Dalian Medical University between 2007 and 2015. A total of 110 patients with a definite pathological diagnosis of FCD IIa were included. Moreover, the clinical characteristics, seizure outcome and quality of life in adults with FCD IIa were evaluated...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28557904/characteristics-of-eeg-seizure-onset-patterns-recorded-from-subdural-electrodes-over-mri-visible-frontal-focal-cortical-dysplasia-type-iib-lesions
#18
Daisuke Hirozawa, Kiyohito Terada, Kazumi Matsuda, Keiko Usui, Naotaka Usui, Takayasu Tottori, Akihiko Kondo, Yasukiyo Araki, Yoshio Omote, Yumi Kashida, Hideki Mochizuki, Yushi Inoue
PURPOSE: Focal cortical dysplasia (FCD) is intrinsically epileptogenic, and an MRI-visible lesion typically constitutes the core part of the epileptogenic zone. We aimed to identify ictal EEG patterns that represent the epileptogenic zone by using subdural electrodes placed over the MRI-visible FCD lesion. METHODS: We selected seven patients with frontal lobe epilepsy caused by pathologically proven FCD type IIb who underwent preoperative intracranial EEG evaluation with subdural electrodes followed by resection surgery with seizure-free outcome...
May 25, 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28548216/pathology-of-oligodendroglia-an-overview
#19
Takashi Komori
Oligodendroglia are cells responsible for creating myelin sheaths for axons in the CNS. However, pathologies of oligodendroglia other than demyelination are not well understood due to the lack of adequate methods of characterizing pathological conditions affecting oligodendroglia in human tissue. This review discusses three major topics with the aim of clarifying some of the controversies in the study of oligodendroglia. The oligodendroglioma, a relatively indolent form of diffuse gliomas thought to originate in oligodendrocytes, has never demonstrated myelin formation on electron microscopy nor shown a constant expression of myelin-related proteins...
May 26, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28524219/-epileptic-encephalopathies
#20
J Ramos-Lizana
According to the International League Against Epilepsy's (ILAE) Commission on Classification and Terminology, the term 'epileptic encephalopathy' reflects the notion that epileptic activity in itself can contribute to the genesis of severe cognitive or behavioural disabilities, beyond what could be expected from the pathology underlying the epilepsy. However, in many cases it is difficult to define the boundary between the relative contribution of the epileptic seizures and the underlying cause in the genesis of cognitive deficits...
May 17, 2017: Revista de Neurologia
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