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Cortical dysplasia

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https://www.readbyqxmd.com/read/28222113/differentially-expressed-proteins-underlying-childhood-cortical-dysplasia-with-epilepsy-identified-by-itraq-proteomic-profiling
#1
Lu Qin, Xi Liu, Shiyong Liu, Yi Liu, Yixuan Yang, Hui Yang, Yangmei Chen, Lifen Chen
Cortical dysplasia accounts for at least 14% of epilepsy cases, and is mostly seen in children. However, the understanding of molecular mechanisms and pathogenesis underlying cortical dysplasia is limited. The aim of this cross-sectional study is to identify potential key molecules in the mechanisms of cortical dysplasia by screening the proteins expressed in brain tissues of childhood cortical dysplasia patients with epilepsy using isobaric tags for relative and absolute quantitation-based tandem mass spectrometry compared to controls, and several differentially expressed proteins that are not reported to be associated with cortical dysplasia previously were selected for validation using real-time polymerase chain reaction, immunoblotting and immunohistochemistry...
2017: PloS One
https://www.readbyqxmd.com/read/28215400/somatic-mutations-in-tsc1-and-tsc2-cause-focal-cortical-dysplasia
#2
Jae Seok Lim, Ramu Gopalappa, Se Hoon Kim, Suresh Ramakrishna, Minji Lee, Woo-Il Kim, Junho Kim, Sang Min Park, Junehawk Lee, Jung-Hwa Oh, Heung Dong Kim, Chang-Hwan Park, Joon Soo Lee, Sangwoo Kim, Dong Seok Kim, Jung Min Han, Hoon-Chul Kang, Hyongbum Henry Kim, Jeong Ho Lee
Focal cortical dysplasia (FCD) is a major cause of the sporadic form of intractable focal epilepsies that require surgical treatment. It has recently been reported that brain somatic mutations in MTOR account for 15%-25% of FCD type II (FCDII), characterized by cortical dyslamination and dysmorphic neurons. However, the genetic etiologies of FCDII-affected individuals who lack the MTOR mutation remain unclear. Here, we performed deep hybrid capture and amplicon sequencing (read depth of 100×-20,012×) of five important mTOR pathway genes-PIK3CA, PIK3R2, AKT3, TSC1, and TSC2-by using paired brain and saliva samples from 40 FCDII individuals negative for MTOR mutations...
February 12, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28213194/subcortical-mapping-using-an-electrified-cusa-in-pediatric-supratentorial-surgery
#3
Jonathan Roth, Akiva Korn, Yifat Bitan-Talmor, Rivka Kaufman, Margaret Ekstein, Shlomi Constantini
BACKGROUND: Intraoperative electrophysiology is increasingly used for various lesion resections, both in adult and pediatric brain surgery. Subcortical mapping is often used in adult surgery when lesions lie in proximity to the corticospinal tract (CST). We describe a novel technique of continuous subcortical mapping using an electrified Cavitron UltraSonic Aspirator (CUSA) in children with supratentorial lesions. METHODS: We evaluated the method of subcortical mapping using a CUSA as a stimulation probe...
February 14, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28206669/characterization-of-focal-cortical-dysplasia-with-balloon-cells-by-layer-specific-markers-evidence-for-differential-vulnerability-of-interneurons
#4
Julia M Nakagawa, Catharina Donkels, Susanne Fauser, Andreas Schulze- Bonhage, Marco Prinz, Josef Zentner, Carola A Haas
OBJECTIVE: Focal cortical dysplasia (FCD) is a major cause of pharmacoresistant focal epilepsy. Little is known about the pathomechanisms underlying the characteristic cytoarchitectural abnormalities associated with FCD. In the present study, a broad panel of markers identifying layer-specific neuron subpopulations was applied to characterize dyslamination and structural alterations in FCD with balloon cells (FCD 2b). METHODS: Pan-neuronal neuronal nuclei (NeuN) and layer-specific protein expression (Reelin, Calbindin, Calretinin, SMI32 (nonphosphorylated neurofilament H), Parvalbumin, transducin-like enhancer protein 4 (TLE4), and Vimentin) was studied by immunohistochemistry on paraffin sections of FCD2b cases (n = 22) and was compared to two control groups with (n = 7) or without epilepsy (n = 4 postmortem cases)...
February 16, 2017: Epilepsia
https://www.readbyqxmd.com/read/28186356/bone-robusticity-in-two-distinct-skeletal-dysplasias-diverges-from-established-patterns
#5
Kate Citron, Cosmo Veneziale, Josephine Marino, Erin M Carter, Karl J Jepsen, Cathleen Raggio
Achondroplasia is a heritable disorder of endochondral bone formation characterized by disproportionate short stature. Osteogenesis imperfecta is a heritable bone and connective tissue disorder characterized by bone fragility. To investigate bone morphology of these groups, we retrospectively reviewed 169 de-identified bone age films from 20 individuals with achondroplasia, 39 individuals with osteogenesis imperfecta and 37 age- and sex-matched controls (matched to historical measurements from the Bolton-Brush Collection)...
February 10, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28175393/131%C3%A2-resective-surgery-for-focal-cortical-dysplasia-in-children-a-comparative-analysis-of-the-utility-of-intraoperative-magnetic-resonance-imaging
#6
Chima Oluigbo, Matthew Sacino, John S Myseros, Suresh N Magge, William Gaillard, Robert F Keating
No abstract text is available yet for this article.
August 1, 2016: Neurosurgery
https://www.readbyqxmd.com/read/28156248/long-term-surgical-results-of-supplementary-motor-area-epilepsy-surgery
#7
Mario A Alonso-Vanegas, Daniel San-Juan, Ricardo M Buentello García, Carlos Castillo-Montoya, Horacio Sentíes-Madrid, Erika Brust Mascher, Paul Shkurovick Bialik, Carlos Trenado
OBJECTIVE Supplementary motor area (SMA) epilepsy is a well-known clinical condition; however, long-term surgical outcome reports are scarce and correspond to small series or isolated case reports. The aim of this study is to present the surgical results of SMA epilepsy patients treated at 2 reference centers in Mexico City. METHODS For this retrospective descriptive study (1999-2014), 52 patients underwent lesionectomy and/or corticectomy of the SMA that was guided by electrocorticography (ECoG). The clinical, neurophysiological, neuroimaging, and pathological findings are described...
February 3, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28135561/focal-cortical-dysplasia-gene-mutations-cell-signaling-and-therapeutic-implications
#8
Philip H Iffland, Peter B Crino
Focal cortical dysplasias (FCDs) are malformations of cortical development (MCDs) that are highly associated with medication-resistant epilepsy and are the most common cause of neocortical epilepsy in children. FCDs are a heterogeneous group of developmental disorders caused by germline or somatic mutations that occur in genes regulating the PI3K/Akt/mTOR pathway-a key pathway in neuronal growth and migration. Accordingly, FCDs are characterized by abnormal cortical lamination, cell morphology (e.g., cytomegaly), and cellular polarity...
January 24, 2017: Annual Review of Pathology
https://www.readbyqxmd.com/read/28130467/multimodal-mri-profiling-of-focal-cortical-dysplasia-type-ii
#9
Seok-Jun Hong, Boris C Bernhardt, Benoit Caldairou, Jeffery A Hall, Marie C Guiot, Dewi Schrader, Neda Bernasconi, Andrea Bernasconi
OBJECTIVE: To characterize in vivo MRI signatures of focal cortical dysplasia (FCD) type IIA and type IIB through combined analysis of morphology, intensity, microstructure, and function. METHODS: We carried out a multimodal 3T MRI profiling of 33 histologically proven FCD type IIA (9) and IIB (24) lesions. A multisurface approach operating on manual consensus labels systematically sampled intracortical and subcortical lesional features. Geodesic distance mapping quantified the same features in the lesion perimeter...
January 27, 2017: Neurology
https://www.readbyqxmd.com/read/28123950/novel-surface-features-for-automated-detection-of-focal-cortical-dysplasias-in-paediatric-epilepsy
#10
Sophie Adler, Konrad Wagstyl, Roxana Gunny, Lisa Ronan, David Carmichael, J Helen Cross, Paul C Fletcher, Torsten Baldeweg
Focal cortical dysplasia is a congenital abnormality of cortical development and the leading cause of surgically remediable drug-resistant epilepsy in children. Post-surgical outcome is improved by presurgical lesion detection on structural MRI. Automated computational techniques have improved detection of focal cortical dysplasias in adults but have not yet been effective when applied to developing brains. There is therefore a need to develop reliable and sensitive methods to address the particular challenges of a paediatric cohort...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28111355/epigenetics-in-epilepsy
#11
REVIEW
K Kobow, I Blümcke
Approximately 50 million people have epilepsy, making it the most common chronic and severe neurological disease worldwide, with increased risk of mortality and psychological and socioeconomic consequences impairing quality of life. More than 30% of patients with epilepsy have inadequate control of their seizures with drug therapy. Any structural brain lesion can provoke epilepsy. However, progression of seizure activity as well as the development of drug-resistance remains difficult to predict, irrespective of the underlying epileptogenic condition, i...
January 19, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28105099/lamotrigine-decreases-mrp8-and-il-7-in-rat-models-of-intractable-epilepsy-secondary-to-focal-cortical-dysplasia
#12
Jianping Wei, Qingmei Nie, Feng Li
The aim of the present study was to examine the effect of lamotrigine and the expression of myeloid-related protein 8 (MRP8) and interleukin-7 (IL-7) in the treatment of focal cortical dysplasia with secondary intractable epilepsy. In this study, rats with focal cortical dysplasia with secondary intractable epilepsy (constructed by our laboratory) were selected and used for experimentation, 21-day Sprague-Dawley rats were randomly divided into the control group (38 rats), the observation group I (39 rats), and the observation group II (38 rats)...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28101478/focal-epileptogenic-lesions-in-adult-patients-with-epilepsy-and-generalized-epileptiform-discharges
#13
Dong Wook Kim, Seo-Young Lee, Sang Kun Lee
BACKGROUND AND PURPOSE: There are reports of successful resective epilepsy surgery for pediatric patients with epilepsy and generalized epileptiform discharges when they had focal epileptogenic lesions identified by MRI. However, there is limited information regarding adult patients with epilepsy who have both generalized epileptiform discharges and focal epileptogenic lesions. METHODS: To investigate the incidence and characteristics of adult patients who have both generalized epileptiform discharges and potentially epileptogenic lesions, we retrospectively analyzed data of clinical features and results of EEG and MRI of all patients with adult-onset epilepsy in a tertiary referral hospital...
December 2016: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/28098941/posterior-cortex-epilepsy-surgery-in-childhood-and-adolescence-predictors-of-long-term-seizure-outcome
#14
Georgia Ramantani, Angeliki Stathi, Armin Brandt, Karl Strobl, Susanne Schubert-Bast, Gert Wiegand, Rudolf Korinthenberg, Vera van Velthoven, Josef Zentner, Andreas Schulze-Bonhage, Thomas Bast
OBJECTIVE: We aimed to investigate the long-term seizure outcome of children and adolescents who were undergoing epilepsy surgery in the parietooccipital cortex and determine their predictive factors. METHODS: We retrospectively analyzed the data of 50 consecutive patients aged 11.1 (mean) ± 5.1 (standard deviation) years at surgery. All patients but one had a magnetic resonance imaging (MRI)-visible lesion. Resections were parietal in 40%, occipital in 32%, and parietooccipital in 28% cases; 24% patients additionally underwent a resection of the posterior border of the temporal lobe...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28088684/changes-in-electroencephalographic-characteristics-and-blood-brain-barrier-permeability-in-wag-rij-rats-with-cortical-dysplasia
#15
Deniz Sahin, Canan Ugur Yilmaz, Nurcan Orhan, Nadir Arican, Mehmet Kaya, Candan Gürses, Nurbay Ates, Bulent Ahishali
PURPOSE: This study investigated the effects of cortical dysplasia (CD) on electrophysiology and blood-brain barrier (BBB) permeability in WAG/Rij rats with genetic absence epilepsy. METHODS: Pregnant WAG/Rij rats were exposed to 145cGy of gamma-irradiation on embryonic day 17 to induce CD. An electroencephalogram was recorded from cortices subdurally in the offspring of the pregnant animals. Horseradish peroxidase (HRP) was used as determinant of BBB permeability...
January 12, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28067998/multimodal-fiber-probe-spectroscopy-allows-detecting-epileptogenic-focal-cortical-dysplasia-in-children
#16
Suresh Anand, Riccardo Cicchi, Flavio Giordano, Valerio Conti, Anna Maria Buccoliero, Renzo Guerrini, Francesco Saverio Pavone
We evaluated the diagnostic capability of a multimodal spectroscopic approach for classifying normal brain tissue and epileptogenic focal cortical dysplasia in children. We employed fluorescence spectroscopy at two excitation wavelengths (378 nm and 445 nm) and Raman spectroscopy (at 785 nm excitation) for acquiring fluorescence and Raman spectra from 10 normal brains, 16 focal cortical dysplasia specimens and 1 cortical tuber tissue sites using a custom-built multimodal optical point spectroscopic system. We used principal component analysis combined with leave-one-sample-out-cross-validation for tissue classification...
January 9, 2017: Journal of Biophotonics
https://www.readbyqxmd.com/read/28056425/fcd-type-ii-and-mtor-pathway-evidence-for-different-mechanisms-involved-in-the-pathogenesis-of-dysmorphic-neurons
#17
Laura Rossini, Flavio Villani, Tiziana Granata, Laura Tassi, Giovanni Tringali, Francesco Cardinale, Eleonora Aronica, Roberto Spreafico, Rita Garbelli
Type II focal cortical dysplasia (FCD II) is a malformation of cortical development, frequently associated with intractable epilepsy, characterised by cortical dyslamination, dysmorphic neurons (DNs) and balloon cells (BCs). We investigated the expression of pS6 (downstream target) and pPDK1-pAkt (upstream targets) as evidence for mTOR pathway activation and their co-expression with Interleukin-1β in FCD II surgical specimens and compared the findings with control non-epileptic tissue, non-malformed epileptic tissue or acquired epilepsy-Rasmussen's Encephalitis (RE) occasionally presenting pS6 and Interleukin-1β positive abnormal neurons...
December 7, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/28050548/monostotic-fibrous-dysplasia-of-the-metacarpal-a-case-report
#18
Kátia Tôrres Batista, Hugo José de Araújo, Ulises Prieto Y Schwartzman
Fibrous dysplasia is a bone disease characterized by abnormal differentiation of fibrous tissue in the bones; it is often asymptomatic. It may affect one bone (monostotic) or several bones (polyostotic). The monostotic form primarily affects the ribs, but hardly ever affects the hand. It is important to make the differential diagnosis with malignant bone tumors. This article describes the treatment and outcome of a rare case of a patient admitted with a history of tumor growth in the right hand, diagnosed as fibrous dysplasia of the right second metacarpal...
November 2016: Revista Brasileira de Ortopedia
https://www.readbyqxmd.com/read/28050513/an-atypical-presentation-of-multiple-central-osteomas-mimicking-craniofacial-fibrous-dysplasia-a-pictorial-essay
#19
Rashmi Kewal Agarwal, Amit A Mhapuskar, Manjula Hebbale, Meenal Tepan, Ayushee
Osteoma is benign neoplasm with slow growth characterized by deposition of compact lamellar cortical or cancellous bone creating a tumour mass. It is still unclear whether osteomas are benign neoplasms or hamartomas. They have typical clinical presentations and are easily diagnosed with the help of radiographs. We present a rare case of non-syndromic multiple osteomas in the craniofacial region which are typically restricted to the midline and presents radiographically as craniofacial fibrous dysplasia causing a diagnostic dilemma...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28036289/expression-of-pannexin-1-and-2-in-cortical-lesions-from-intractable-epilepsy-patients-with-focal-cortical-dysplasia
#20
Song Li, Zhenle Zang, Jiaojiang He, Xin Chen, Sixun Yu, Yuchun Pei, Zhi Hou, Ning An, Hui Yang, Chunqing Zhang, Shiyong Liu
Focal cortical dysplasia (FCD) is a major cause of intractable epilepsy in children however the mechanisms underlying the pathogenesis of FCD and FCD induced epilepsy remain unclear. Increasing evidence suggests that the large-pore ion channels, pannexin 1 (Panx1) and 2 (Panx2), are involved in epilepsy and brain development. In this study, we investigated the expression of Panx1 and Panx2 in surgical samples from patients with FCD type Ia (FCDIa), type IIa (FCDIIa), and type IIb (FCDIIb) and in age-matched autopsy control samples...
January 24, 2017: Oncotarget
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