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https://www.readbyqxmd.com/read/29793134/voxel-based-automated-detection-of-focal-cortical-dysplasia-lesions-using-diffusion-tensor-imaging-and-t2-weighted-mri-data
#1
Yanming Wang, Yawen Zhou, Huijuan Wang, Jin Cui, Benedictor Alexander Nguchu, Xufei Zhang, Bensheng Qiu, Xiaoxiao Wang, Mingwang Zhu
The aim of this study was to automatically detect focal cortical dysplasia (FCD) lesions in patients with extratemporal lobe epilepsy by relying on diffusion tensor imaging (DTI) and T2-weighted magnetic resonance imaging (MRI) data. We implemented an automated classifier using voxel-based multimodal features to identify gray and white matter abnormalities of FCD in patient cohorts. In addition to the commonly used T2-weighted image intensity feature, DTI-based features were also utilized. A Gaussian processes for machine learning (GPML) classifier was tested on 12 patients with FCD (8 with histologically confirmed FCD) scanned at 1...
May 21, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29789859/fibrous-dysplasia-an-unusual-case-of-a-very-aggressive-form-with-costo-vertebral-joint-destruction-and-invasion-of-the-contralateral-d7-vertebral-body
#2
Carmine Zoccali, Dario Attala, Barbara Rossi, Giovanni Zoccali, Virginia Ferraresi
Fibrous dysplasia (FD) is a benign fibro-osseous disease of the bone that may be solitary or multicentric. It is important to distinguish this type of lesion from low-grade osteosarcomas (LGOS) and from secondary sarcomas, because malignant transformation has rarely been reported. It is classically described as having a ground-glass appearance, endosteal scalloping, and thinning of the cortex. Cortical disruption is considered evidence of malignancy, but it can also be present in benign FD with aggressive behavior...
May 23, 2018: Skeletal Radiology
https://www.readbyqxmd.com/read/29782369/neuroimaging-in-epilepsy
#3
Meneka Kaur Sidhu, John S Duncan, Josemir W Sander
PURPOSE OF REVIEW: Epilepsy neuroimaging is important for detecting the seizure onset zone, predicting and preventing deficits from surgery and illuminating mechanisms of epileptogenesis. An aspiration is to integrate imaging and genetic biomarkers to enable personalized epilepsy treatments. RECENT FINDINGS: The ability to detect lesions, particularly focal cortical dysplasia and hippocampal sclerosis, is increased using ultra high-field imaging and postprocessing techniques such as automated volumetry, T2 relaxometry, voxel-based morphometry and surface-based techniques...
May 17, 2018: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29778488/the-2016-bernard-sachs-lecture-timing-in-morphogenesis-and-genetic-gradients-during-normal-development-and-in-malformations-of-the-nervous-system
#4
REVIEW
Harvey B Sarnat
Nervous system development is quadradimensional. Both normal ontogenesis and developmental malformations are explained in the context of the fourth dimension, timing. Timing of the onset of either the genetic expression of a mutation or an epigenetic event that may be teratogenic is primordial in determining morphogenesis and the forms of malformations with their functional consequences. Multiple genotypes may cause similar phenotypes or a single genotype with different degrees of retained normal genetic expression may result in variable phenotypes...
March 30, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29750358/a-population-based-cost-effectiveness-study-of-early-genetic-testing-in-severe-epilepsies-of-infancy
#5
Katherine B Howell, Stefanie Eggers, Kim Dalziel, Jessica Riseley, Simone Mandelstam, Candace T Myers, Jacinta M McMahon, Amy Schneider, Gemma L Carvill, Heather C Mefford, Ingrid E Scheffer, A Simon Harvey
OBJECTIVE: The severe epilepsies of infancy (SEI) are a devastating group of disorders that pose a major care and economic burden on society; early diagnosis is critical for optimal management. This study sought to determine the incidence and etiologies of SEI, and model the yield and cost-effectiveness of early genetic testing. METHODS: A population-based study was undertaken of the incidence, etiologies, and cost-effectiveness of a whole exome sequencing-based gene panel (targeted WES) in infants with SEI born during 2011-2013, identified through electroencephalography (EEG) and neonatal databases...
May 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29738718/bilateral-thalamocortical-abnormalities-in-focal-cortical-dysplasia
#6
Arthur Rezayev, Henry A Feldman, Jacob Levman, Emi Takahashi
BACKGROUND AND PURPOSE: Focal cortical dysplasia (FCD), a congenital malformation of the neocortex and one of the most common causes of medication resistant epilepsy in pediatric populations, can be studied noninvasively by diffusion tensor imaging (DTI). The present study aimed to quantify changes in the thalamus and thalamocortical pathways with respect to fractional anisotropy (FA), apparent diffusion coefficient (ADC), volume, and other common measures. MATERIALS & METHODS: The study quantified data collected from pediatric patients with a prior diagnosis of FCD; 75 patients (35 females, 10...
May 5, 2018: Brain Research
https://www.readbyqxmd.com/read/29709747/factors-related-to-the-clinical-outcomes-of-surgery-for-extra-temporal-lobe-epilepsy-long-term-follow-up-results
#7
Yoon Ha Hwang, Na Young Jung, Chang Kyu Park, Won Seok Chang, Hyun Ho Jung, Jin Woo Chang
OBJECTIVE: As compared to temporal lobe epilepsy, the surgical outcome in extra-temporal epilepsy (ETLE) is still unsatisfactory. However, recent advances in diagnostic and surgical techniques have led to improved prognosis. This study investigated the outcomes and prognostic factors of ETLE based on long-term follow-up of patients undergoing surgical treatment for ETLE, in a single institute. METHODS: From 2003 through 2015, we retrospectively reviewed the medical records of 58 patients with refractory ETLE who underwent resection at our hospital...
April 27, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29708509/depdc5-takes-a-second-hit-in-familial-focal-epilepsy
#8
Matthew P Anderson
Loss-of-function mutations in a single allele of the gene encoding DEP domain-containing 5 protein (DEPDC5) are commonly linked to familial focal epilepsy with variable foci; however, a subset of patients presents with focal cortical dysplasia that is proposed to result from a second-hit somatic mutation. In this issue of the JCI, Ribierre and colleagues provide several lines of evidence to support second-hit DEPDC5 mutations in this disorder. Moreover, the authors use in vivo, in utero electroporation combined with CRISPR-Cas9 technology to generate a murine model of the disease that recapitulates human manifestations, including cortical dysplasia-like changes, focal seizures, and sudden unexpected death...
April 30, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29708508/second-hit-mosaic-mutation-in-mtorc1-repressor-depdc5-causes-focal-cortical-dysplasia-associated-epilepsy
#9
Théo Ribierre, Charlotte Deleuze, Alexandre Bacq, Sara Baldassari, Elise Marsan, Mathilde Chipaux, Giuseppe Muraca, Delphine Roussel, Vincent Navarro, Eric Leguern, Richard Miles, Stéphanie Baulac
DEP domain-containing 5 protein (DEPDC5) is a repressor of the recently recognized amino acid-sensing branch of the mTORC1 pathway. So far, its function in the brain remains largely unknown. Germline loss-of-function mutations in DEPDC5 have emerged as a major cause of familial refractory focal epilepsies, with case reports of sudden unexpected death in epilepsy (SUDEP). Remarkably, a fraction of patients also develop focal cortical dysplasia (FCD), a neurodevelopmental cortical malformation. We therefore hypothesized that a somatic second-hit mutation arising during brain development may support the focal nature of the dysplasia...
April 30, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29704039/correction-to-18-f-fdg-pet-in-drug-resistant-epilepsy-due-to-focal-cortical-dysplasia-type-2-additional-value-of-electroclinical-data-and-coregistration-with-mri
#10
Serge Desarnaud, Charles Mellerio, Franck Semah, Agathe Laurent, Elisabeth Landre, Bertrand Devaux, Catherine Chiron, Vincent Lebon, Francine Chassoux
The original version of this article has added numbers in the text which are unnecessary. Correct line should be: "We also performed PET/MRI based surgical resections in an increasing number of MRI negative/ doubtful cases with favourable outcome."
April 28, 2018: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29695406/a-novel-association-of-campomelic-dysplasia-with-hydrocephalus-due-to-an-unbalanced-chromosomal-translocation-upstream-of-sox9
#11
Prince Antwi, Christopher S Hong, Daniel Duran, Jin Sheng Chih, Weilai Dong, Michael DiLuna, Kristopher T Kahle
Campomelic dysplasia is a rare skeletal dysplasia characterized by Pierre-Robin sequence, craniofacial dysmorphism, shortening and angulation of long bones, tracheobronchomalacia, and occasionally sex reversal. The disease is due to mutations in SOX9 or chromosomal rearrangements involving the long arm of chromosome 17 harboring the SOX9 locus. SOX9, a transcription factor, is indispensible in establishing and maintaining neural stem cells in the CNS. We present a patient with angulation of long bones and external female genitalia on prenatal ultrasound who was subsequently found to harbor the chromosomal abnormality 46, XY, t(6;17) (p21...
April 25, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29692973/visual-hallucinations-a-novel-complication-after-hemispherectomy
#12
Jonas Vanags, Monisha Sachdev, Gerald Grant, Mohamad A Mikati
Two patients at our center experienced florid visual hallucinations following hemispherectomy. The first patient had drug-resistant left hemispheric focal seizures at 20 months of age from a previous stroke. Following functional hemispherectomy at age 3, he experienced frightening hallucinations 1 month post-operatively lasting 3.5 months. Our second patient underwent subtotal hemispherectomy at age 6 for drug-resistant focal seizures from right hemispheric cortical dysplasia. Eighteen months later he developed scary visual hallucinations during which he would shout and throw things...
2018: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/29692965/sub-lobar-dysplasia-a-comprehensive-evaluation-with-neuroimaging-magnetoencephalography-and-histopathology
#13
Kenchaiah Raghavendra, Ganne Chaitanya, Bhargava Goutham, Anita Mahadevan, Ravindranadh Chowdary Mundlamuri, Rose Dawn Bharath, Mariyappa Narayannan, Malla Bhaskar Rao, Arimappamagan Arivazhagan, Parthasarthy Satishchandra, Sanjib Sinha
Sublobar dysplasia, a rare cortical malformation has been defined in only 8 patients to date. It was identified on the basis of histopathological features and MRI findings. We report a right temporal sublobar dysplasia, with detailed evaluation including neuroimaging, magnetoencephalography and histopathology to further characterize the pathology. Additional pathological features included a deep collateral sulcus in the basal right temporal lobe, thinned out right corticospinal tract, and bilateral asymmetric basal ganglia changes...
2018: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/29685607/magnetoencephalographic-spike-analysis-in-patients-with-focal-cortical-dysplasia-what-defines-a-dipole-cluster
#14
Naoaki Tanaka, Christos Papadelis, Eleonora Tamilia, Michel AlHilani, Joseph R Madsen, Phillip L Pearl, Steven M Stufflebeam
BACKGROUND: The purpose of this study is to clarify the source distribution patterns of magnetoencephalographic spikes correlated with postsurgical seizure-free outcome in pediatric patients with focal cortical dysplasia. PATIENTS AND METHODS: Thirty-two patients with pathologically confirmed focal cortical dysplasia were divided into seizure-free and seizure-persistent groups according to their surgical outcomes based on Engel classification. In each patient, presurgical magnetoencephalography was reviewed...
March 15, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29679388/somatic-slc35a2-variants-in-the-brain-are-associated-with-intractable-neocortical-epilepsy
#15
Melodie R Winawer, Nicole G Griffin, Jorge Samanamud, Evan H Baugh, Dinesh Rathakrishnan, Senthilmurugan Ramalingam, David Zagzag, Catherine A Schevon, Patricia Dugan, Manu Hegde, Sameer A Sheth, Guy M McKhann, Werner K Doyle, Gerald A Grant, Brenda E Porter, Mohamad A Mikati, Carrie R Muh, Colin D Malone, Ann Marie R Bergin, Jurriaan M Peters, Danielle K McBrian, Alison M Pack, Cigdem I Akman, Christopher M LaCoursiere, Katherine M Keever, Joseph R Madsen, Edward Yang, Hart G W Lidov, Catherine Shain, Andrew S Allen, Peter Canoll, Peter B Crino, Annapurna H Poduri, Erin L Heinzen
OBJECTIVE Somatic variants are a recognized cause of epilepsy-associated focal malformations of cortical development (MCD). We hypothesized that somatic variants may underlie a wider range of focal epilepsy, including non-lesional focal epilepsy (NLFE). Through genetic analysis of brain tissue, we evaluated the role of somatic variation in focal epilepsy with and without MCD. METHODS We identified somatic variants through high-depth exome and ultra-high-depth candidate gene sequencing of DNA from epilepsy surgery specimens and leukocytes from 18 individuals with NLFE and 38 with focal MCD...
April 20, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29677585/age-at-epilepsy-onset-in-patients-with-focal-cortical-dysplasias-gangliogliomas-and-dysembryoplastic-neuroepithelial-tumours
#16
Attila Rácz, Andreas-Markus Müller, Johannes Schwerdt, Albert Becker, Hartmut Vatter, Christian E Elger
PURPOSE: The age at epilepsy onset in patients with inborn or very early acquired brain lesions depends on the epileptogenic potential of the lesion and the patients' individual "susceptibility" to epileptic seizures. To gain insight into these determinants, we analysed the case history of patients with focal cortical dysplasias (FCDs) and neuroglial tumours. METHODS: In a systematic, retrospective analysis comprised of 233 patients who underwent surgery (116 with FCDs and 117 with neuroglial tumours), we evaluated the age at epilepsy onset according to histopathologic subgroups, lesion location and family history...
April 4, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29672310/significance-of-fdg-pet-hypermetabolism-in-children-with-intractable-focal-epilepsy
#17
Solon Schur, Victoria Allen, Andrew White, David Mirsky, Nicholas Stence, Brent O'Neill, Michael Handler, Roy Dudley, Pramote Laoprasert
BACKGROUND: Interictal 18F-fluorodeoxyglucose-positron emission topography (FDG-PET) hypometabolism is routinely used in the presurgical workup of children with medically intractable epilepsy (MIE). FDG-PET hypermetabolism, however, is rarely seen, and the significance of this finding in the epilepsy workup is not well established. METHODS: We performed a retrospective study of patients who underwent FDG-PET during the presurgical workup of MIE over a 4-year period, between 1 January 2010 and 31 December 2013, at the Children's Hospital Colorado, CO, USA...
April 19, 2018: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29670511/low-frequency-microstimulation-is-locally-excitatory-in-patients-with-epilepsy
#18
Andrea Bartoli, Rémi Tyrand, Maria I Vargas, Shahan Momjian, Colette Boëx
Deep brain stimulation (DBS) could become a palliative treatment for patients with drug-resistant epilepsy for which surgery cannot be proposed. The objective of this study was to perform microstimulation to measure the effects of DBS in epilepsy locally at the level of a few neurons, with microelectrode recordings, for the first time in patients with epilepsy. Microelectrode recordings were performed before, during and after microstimulation in nine patients with refractory epilepsy. Neuronal spikes were successfully extracted from multi-unit recordings with clustering in six out of seven patients during hippocampal and in one out of two patients during cortical dysplasia microstimulation (1 Hz, charge-balanced biphasic waveform, 60 μs/ph, 25 μA)...
2018: Frontiers in Neural Circuits
https://www.readbyqxmd.com/read/29669177/mutations-that-alter-the-carboxy-terminal-propeptide-cleavage-site-of-the-chains-of-type-i-procollagen-are-associated-with-a-unique-osteogenesis-imperfecta-phenotype
#19
Tim Cundy, Michael Dray, John Delahunt, Jannie Dahl Hald, Bente Langdahl, Chumei Li, Marta Szybowska, Shehla Mohammed, Emma L Duncan, Aideen M McInerney-Leo, Patricia G Wheeler, Paul Roschger, Klaus Klaushofer, Jyoti Rai, MaryAnn Weis, David Eyre, Ulrike Schwarze, Peter H Byers
Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by fractures, low bone mass, and skeletal fragility. It most commonly arises from dominantly inherited mutations in the genes COL1A1 and COL1A2 that encode the chains of type I collagen. A number of recent reports have suggested that mutations affecting the carboxyl-terminal propeptide cleavage site in the products of either COL1A1 or COL1A2 give rise to a form of OI characterized by unusually dense bones. We have assembled clinical, biochemical, and molecular data from 29 individuals from 8 families with 7 different mutations affecting the C-propeptide cleavage site...
April 18, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29663692/profiles-of-gene-expression-in-the-hippocampal-formation-of-rats-with-experimentally-induced-brain-dysplasia
#20
Michal Kielbinski, Zuzanna Setkowicz, Kinga Gzielo, Krzysztof Janeczko
Malformations of cortical development (MCD) are a common cause of intractable seizures in humans. Among these, focal cortical dysplasia (FCD) poses an outstanding challenge. There are several subtypes of FCD that show significant variation in pathology and clinical presentation. All types exhibit disturbed cortical cytoarchitecture and increased propensity for seizures. The etiology is likely heterogenous, with mutations, specifically in genes related to mammalian target of rapamycin (mTOR), identified in only a subset of cases...
April 16, 2018: Developmental Neurobiology
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