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https://www.readbyqxmd.com/read/28328823/a-case-report-of-pycnodysostosis-with-atypical-femur-fracture-diagnosed-by-next-generation-sequencing-of-candidate-genes
#1
Hyung Keun Song, Young Bae Sohn, Yong Jun Choi, Yoon-Sok Chung, Ja-Hyun Jang
RATIONALE: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, craniofacial dysmorphism, acro-osteolysis, osteosclerosis, and brittle bone with poor healing. Pycnodysostosis results from the deficient activity of cathepsin K, a lysosomal cysteine protease that is encoded by CTSK. PATIENT CONCERNS: We report a Korean adult patient with pycnodysostosis and atypical femur fracture whose diagnosis was confirmed by next-generation sequencing (NGS) of candidate genes...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28322853/the-role-of-histopathologic-subtype-in-the-setting-of-hippocampal-sclerosis-associated-mesial-temporal-lobe-epilepsy
#2
Jordan M Gales, Lara Jehi, Amy Nowacki, Richard A Prayson
Hippocampal sclerosis (HS) and focal cortical dysplasia (FCD) are among the most common neuropathological findings in those undergoing surgery for refractory mesial temporal lobe epilepsy (MTLE). Existing data regarding differences among the most recent International League Against Epilepsy (ILAE) HS subtypes remains limited. This study sought to characterize the roles of HS subtype and coexistent FCD. Epilepsy surgery pathologic specimens in 307 cases of temporal lobe epilepsy with HS were reviewed (mean age ± SD, 37 ± 15 years, 56% women)...
March 17, 2017: Human Pathology
https://www.readbyqxmd.com/read/28302192/-surgery-for-pediatric-intractable-epilepsy-due-to-posterior-quadrantic-cortical-dysplasia
#3
Qing-Zhu Liu, Li-Xin Cai, Xiao-Yan Liu, Yu-Wu Jiang, Shuang Wang, Tao-Yun Ji, Wen Wang, Wei-Ke Cheng, Ruo-Fan Wang
OBJECTIVE: To investigate the clinical features and surgical strategy for pediatric intractable epilepsy due to posterior quadrantic cortical dysplasia and to assess the surgical outcomes. METHODS: The clinical features and preoperative evaluation results of 14 children with intractable epilepsy due to posterior quadrantic cortical dysplasia were retrospectively analyzed. The localization values of video-electroencephalography and intraoperative monitoring and the indications, advantages and disadvantages of temporoparietooccipital disconnection were evaluated...
March 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28299356/an-exome-sequencing-study-of-moebius-syndrome-including-atypical-cases-reveals-an-individual-with-cfeom3a-and-a-tubb3-mutation
#4
Ronak M Patel, David Liu, Claudia Gonzaga-Jauregui, Shalini Jhangiani, James T Lu, V Reid Sutton, Susan D Fernbach, Mahshid Azamian, Lisa White, Jane C Edmond, Evelyn A Paysse, John W Belmont, Donna Muzny, James R Lupski, Richard A Gibbs, Richard Alan Lewis, Brendan H Lee, Seema R Lalani, Philippe M Campeau
Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wall such as Poland anomaly and variable limb defects are frequently associated with this syndrome. Most cases are isolated; however, rare families with autosomal dominant transmission with incomplete penetrance and variable expressivity have been described. The genetic basis of this condition remains unknown...
March 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28295228/cognitive-network-reorganization-following-surgical-control-of-seizures-in-lennox-gastaut-syndrome
#5
Aaron E L Warren, A Simon Harvey, David F Abbott, Simon J Vogrin, Catherine Bailey, Andrew Davidson, Graeme D Jackson, John S Archer
We previously observed that adults with Lennox-Gastaut syndrome (LGS) show abnormal functional connectivity among cognitive networks, suggesting that this may contribute to impaired cognition. Herein we report network reorganization following seizure remission in a child with LGS who underwent functional magnetic resonance imaging (fMRI) before and after resection of a cortical dysplasia. Concurrent electroencephalography (EEG) was acquired during presurgical fMRI. Presurgical and postsurgical functional connectivity were compared using (1) graph theoretical analyses of small-world network organization and node-wise strength; and (2) seed-based analyses of connectivity within and between five functional networks...
March 11, 2017: Epilepsia
https://www.readbyqxmd.com/read/28291425/long-term-outcomes-of-epilepsy-surgery-in-85-pediatric-patients-followed-up-for-over-10-years-a-retrospective-survey
#6
Hiroshi Hosoyama, Kazumi Matsuda, Tadahiro Mihara, Naotaka Usui, Koichi Baba, Yushi Inoue, Takayasu Tottori, Toshiaki Otsubo, Yumi Kashida, Koji Iida, Hirofumi Hirano, Ryosuke Hanaya, Kazunori Arita
OBJECTIVE The aim of this study was to investigate the treatment outcomes and social engagement of patients who had undergone pediatric epilepsy surgery more than 10 years earlier. METHODS Between 1983 and 2005, 110 patients younger than 16 years underwent epilepsy surgery at the National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders. The authors sent a questionnaire to 103 patients who had undergone follow-up for more than 10 years after surgery; 85 patients (82.5%) responded. The survey contained 4 categories: seizure outcome, use of antiepileptic drugs, social participation, and general satisfaction with the surgical treatment (resection of the epileptic focus, including 4 hemispherectomies)...
March 3, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28288357/epilepsy-prevalence-and-severity-predictors-in-mri-identified-focal-cortical-dysplasia
#7
Lauren M Maynard, James L Leach, Paul S Horn, Christine G Spaeth, Francesco T Mangano, Katherine D Holland, Lili Miles, Robert Faist, Hansel M Greiner
OBJECTIVES: To determine the prevalence of epilepsy and drug-resistant epilepsy in pediatric patients with focal cortical dysplasia (FCD) identified by magnetic resonance imaging (MRI). To determine clinical and imaging differences between those with drug-resistant epilepsy, drug-responsive epilepsy, and no epilepsy among children with MRI-identified FCD. METHODS: A keyword search of a hospital radiology database identified 97 study participants for inclusion in this retrospective study...
March 6, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28286253/chiari-i-malformation-in-a-child-with-pten-hamartoma-tumor-syndrome-association-or-coincidence
#8
Veronica Saletti, Silvia Esposito, Angelo Maccaro, Sabrina Giglio, Laura Grazia Valentini, Luisa Chiapparini
PTEN hamartoma tumor syndrome (PHTS) refers to a group of clinical conditions caused by germline mutations in the PTEN tumor suppressor gene. Increasing evidence has documented that PHTS may be associated with a broader spectrum of structural brain abnormalities, including dysplastic gangliocytoma of the cerebellum, brain tumors, vascular malformations, white matter abnormalities, dilated perivascular spaces and cortical dysplasia. We report a PTEN-mutated child showing macrocephaly, mild intellectual disability and epilepsy symptomatic of right occipital polymicrogyria, who also developed Chiari I Malformation (CIM) that repeatedly required surgical correction...
March 7, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28279892/thin-isotropic-flair-mr-images-at-1-5t-increase-the-yield-of-focal-cortical-dysplasia-transmantle-sign-detection-in-frontal-lobe-epilepsy
#9
Vasileios Kokkinos, Alexandros Kallifatidis, Eftychia Z Kapsalaki, Nikolaos Papanikolaou, Kyriakos Garganis
OBJECTIVE: The transmantle sign is a distinctive imaging marker of focal cortical dysplasia (FCD) type II in frontal lobe epilepsy (FLE), which is revealed predominantly by fluid-attenuation inversion recovery (FLAIR) sequences. Although the transmantle sign detection yield is high by routine imaging protocols for epilepsy at 3T, most centers around the world have access to 1.5T MR technology and FLE patients often receive negative imaging reports. This study investigates the optimization of transmantle detection yield at 1...
March 2, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28277745/3d-computed-tomography-evaluation-of-morphological-changes-in-the-femoral-tunnel-after-medial-patellofemoral-ligament-reconstruction-with-hamstring-tendon-graft-for-recurrent-patellar-dislocation
#10
Keisuke Kita, Yoshinari Tanaka, Yukiyoshi Toritsuka, Hiroshi Amano, Ryohei Uchida, Yoshiki Shiozaki, Rikio Takao, Shuji Horibe
BACKGROUND: Reconstruction of the medial patellofemoral ligament (MPFL) for recurrent lateral patellar dislocation is gaining popularity. However, the morphological changes in the femoral tunnel after MPFL reconstruction are still not fully documented. PURPOSE: This study used 3-dimensional (3D) computed tomography to evaluate morphological changes in the femoral tunnel after MPFL reconstruction with hamstring tendon graft to investigate factors affecting the phenomenon and to elucidate whether it is associated with clinical outcomes...
March 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28273590/upregulation-of-breast-cancer-resistance-protein-and-major-vault-protein-in-drug-resistant-epilepsy
#11
Aparna Banerjee Dixit, Devina Sharma, Arpna Srivastava, Jyotirmoy Banerjee, Manjari Tripathi, Deepak Prakash, P Sarat Chandra
PURPOSE: Identifying factors involved in the development of drug resistant epilepsy (DRE) remains a challenge. Candidate gene studies have shown modulation of resistance to drugs by various multidrug resistance proteins in DRE. However the resistance to drugs in DRE could be more complex and multifactorial involving molecules in different pharmacokinetic processes. In this study for the first time we have analyzed the relative expression of four molecules with different drug resistance mechanisms in two most common DRE pathologies, mesial temporal lobe epilepsy (MTLE) and focal cortical dysplasia (FCD) with respect to each other and also with different non-epileptic controls...
February 27, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28265244/contributions-of-eeg-fmri-to-assessing-the-epileptogenicity-of-focal-cortical-dysplasia
#12
Francesca Pittau, Lorenzo Ferri, Firas Fahoum, François Dubeau, Jean Gotman
Purpose: To examine the ability of the BOLD response to EEG spikes to assess the epileptogenicity of the lesion in patients with focal cortical dysplasia (FCD). Method: Patients with focal epilepsy and FCD who underwent 3T EEG-fMRI from 2006 to 2010 were included. Diagnosis of FCD was based on neuroradiology (MRI+), or histopathology in MRI-negative cases (MRI-). Patients underwent 120 min EEG-fMRI recording session. Spikes similar to those recorded outside the scanner were marked in the filtered EEG. The lesion (in MRI+) or the removed cortex (in MRI-) was marked on the anatomical T1 sequence, blindly to the BOLD response, after reviewing the FLAIR images...
2017: Frontiers in Computational Neuroscience
https://www.readbyqxmd.com/read/28263952/de-novo-setd5-nonsense-mutation-associated-with-diaphragmatic-hernia-and-severe-cerebral-cortical-dysplasia
#13
Lettie E Rawlins, Karen L Stals, Julian D Eason, Peter D Turnpenny
No abstract text is available yet for this article.
April 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28260047/induced-pluripotent-stem-cells-from-patients-with-focal-cortical-dysplasia-and-refractory-epilepsy
#14
Daniel Rodrigo Marinowic, Fernanda Majolo, Alessandra Deise Sebben, Vinicius Duval da Silva, Tiago Giuliani Lopes, Eliseu Paglioli, André Palmini, Denise Cantarelli Machado, Jaderson Costa da Costa
Focal cortical dysplasia (FCD) is caused by numerous alterations, which can be divided into abnormalities of the cortical architecture and cytological variations; however, the exact etiology of FCD remains unknown. The generation of induced pluripotent stem cells (iPSCs) from the cells of patients with neurological diseases, and their subsequent tissue‑specific differentiation, serves as an invaluable source for testing and studying the initial development and subsequent progression of diseases associated with the central nervous system...
March 1, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28258187/bi-allelic-variants-in-col3a1-encoding-the-ligand-to-gpr56-are-associated-with-cobblestone-like-cortical-malformation-white-matter-changes-and-cerebellar-cysts
#15
Laura Vandervore, Katrien Stouffs, Ibrahim Tanyalçin, Tim Vanderhasselt, Filip Roelens, Muriel Holder-Espinasse, Agnete Jørgensen, Melanie G Pepin, Florence Petit, Philippe Khau Van Kien, Nadia Bahi-Buisson, Willy Lissens, Alexander Gheldof, Peter H Byers, Anna C Jansen
BACKGROUND: Collagens are one of the major constituents of the pial membrane, which plays a crucial role in neuronal migration and cortical lamination during brain development. Type III procollagen, the chains of which are encoded by COL3A1, is the ligand of the G protein-coupled receptor 56 (GPR56), also known as adhesion G protein-coupled receptor G1. Bi-allelic mutations in GPR56 give rise to cobblestone-like malformation, white matter changes and cerebellar dysplasia. This report shows that bi-allelic mutations in COL3A1 are associated with a similar phenotype...
March 3, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28254201/unusual-association-of-scn2a-epileptic-encephalopathy-with-severe-cortical-dysplasia-detected-by-prenatal-mri
#16
Silvia Bernardo, Enrica Marchionni, Sabrina Prudente, Paola De Liso, Alberto Spalice, Antonella Giancotti, Lucia Manganaro, Antonio Pizzuti
We present an atypical association of SCN2A epileptic encephalopathy with severe cortical dysplasia. SCN2A mutations are associated with epileptic syndromes from benign to extremely severe in absence of such macroscopic brain findings. Prenatal MRI (Magnetic Resonance Imaging) in a 32 weeks fetus, with US (Ultrasonography) diagnosis of isolated ventriculomegaly showed CNS (Central Nervous System) dysplasia characterized by lack of differentiation between cortical and subcortical layers, pachygyria and corpus callosum dysgenesis...
February 7, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28252420/metaphyseal-cortical-defect-and-tumor-like-processes-of-long-bones-a-literature-review-and-own-observations
#17
N Lysenko, Ye Sharmazanova, I Voronzhev, A Sorochan, Yu Kolomiychenko
Metaphyseal cortical defect (metaphyseal fibrous defect, cortical fibrous defect) of the long bones is a quite common variant of the bone structure's pathologic changes. The cortical defects and similar to their tumor-like processes (non-ossifying fibroma, benign fibrous histiocytoma etc.) are characterized by particular qualities of the clinical symptoms and radiologic signs. The aim of this article is to analyze a known literature data about cortical fibrous defects of long bones and similar to their tumor-like processes and present results of our own observations...
January 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28222113/differentially-expressed-proteins-underlying-childhood-cortical-dysplasia-with-epilepsy-identified-by-itraq-proteomic-profiling
#18
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
#19
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...
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28213194/subcortical-mapping-using-an-electrified-cusa-in-pediatric-supratentorial-surgery
#20
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
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