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https://www.readbyqxmd.com/read/29334038/robotic-assisted-and-image-guided-mri-compatible-stereoelectroencephalography
#1
Jeffery A Hall, Hui Ming Khoo
BACKGROUND: Stereoelectroencephalography has been in regular use at the Montreal Neurological Institute since 1972. The technique has been in constant evolution to incorporate advances in materials, imaging, and robotics technology. MRI-compatible electrodes were introduced in 2007 and robotics in 2011. Here we report on the technique, safety, and advantages of our current method of stereoelectroencephalography implantation. METHODS: We retrospectively reviewed all patients who underwent stereoelectroencephalography by the senior author...
January 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29331846/functional-neuroimaging-in-rasmussen-syndrome
#2
Ichiro Kuki, Kazumi Matsuda, Yuko Kubota, Tetsuhiro Fukuyama, Yukitoshi Takahashi, Yushi Inoue, Haruo Shintaku
PURPOSE: For a diagnosis of Rasmussen syndrome (RS), clinical course together with electroencephalography (EEG) and magnetic resonance imaging (MRI) findings are considered important, but there are few reports on functional neuroimaging. This study investigated cerebral blood flow (CBF)-single photon emission computed tomography (SPECT), central benzodiazepine receptor (BZR)-SPECT, and fluorine-18 fluorodeoxy glucose-positron emission tomography (FDG-PET) in RS patients, and correlated neuroimaging results with MRI and pathological findings...
January 5, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29331082/mechanistic-target-of-rapamycin-complex-1-and-2-in-human-temporal-lobe-epilepsy
#3
Delia M Talos, Leah M Jacobs, Sarah Gourmaud, Carlos A Coto, Hongyu Sun, Kuei-Cheng Lim, Timothy H Lucas, Kathryn A Davis, Maria Martinez-Lage, Frances E Jensen
OBJECTIVE: Temporal lobe epilepsy (TLE) is a chronic epilepsy syndrome defined by seizures and progressive neurological disabilities, including cognitive impairments, anxiety and depression. Here, human TLE specimens were investigated focusing on the mechanistic target of rapamycin (mTOR) Complex 1 (mTORC1) and Complex 2 (mTORC2) activities in the brain, as both pathways may represent unique targets for treatment. METHODS: Surgically resected hippocampal and temporal lobe samples from therapy-resistant TLE patients were analyzed by Western blotting to quantify the expression of established mTORC1 and mTORC2 activity markers and upstream or downstream signaling pathways involving the two complexes...
January 13, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29325060/pathophysiological-analyses-of-leptomeningeal-heterotopia-using-gyrencephalic-mammals
#4
Naoyuki Matsumoto, Naoki Kobayashi, Natsu Uda, Miwako Hirota, Hiroshi Kawasaki
Leptomeningeal glioneuronal heterotopia (LGH) is a focal malformation of the cerebral cortex and frequently found in patients with thanatophoric dysplasia (TD). The pathophysiological mechanisms underlying LGH formation are still largely unclear because of difficulties in obtaining brain samples from human TD patients. Recently, we established a new animal model for analyzing cortical malformations of human TD by utilizing our genetic manipulation technique for gyrencephalic carnivore ferrets. Here we investigated the pathophysiological mechanisms underlying the formation of LGH using our TD ferrets...
January 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29298944/neuronal-migration-disorders
#5
Benjamin Roberts
Enhanced understanding of brain development has led to increased awareness of the links between disorders of neuronal migration and seizure disorders. A significant number of patients with intractable epilepsy have cortical malformations that originated during neuronal migration. Magnetic resonance imaging plays a primary role in the diagnosis and classification of neuronal migration disorders. These disorders include polymicrogyria, schizencephaly, lissencephaly, heterotopia, and focal cortical dysplasia. Imaging protocols continue to evolve to provide critical assessment of anatomic and physiologic traits of these disorders to better treat and prevent seizures...
January 2018: Radiologic Technology
https://www.readbyqxmd.com/read/29281825/somatic-mutations-activating-the-mtor-pathway-in-dorsal-telencephalic-progenitors-cause-a-continuum-of-cortical-dysplasias
#6
Alissa M D'Gama, Mollie B Woodworth, Amer A Hossain, Sara Bizzotto, Nicole E Hatem, Christopher M LaCoursiere, Imad Najm, Zhong Ying, Edward Yang, A James Barkovich, David J Kwiatkowski, Harry V Vinters, Joseph R Madsen, Gary W Mathern, Ingmar Blümcke, Annapurna Poduri, Christopher A Walsh
Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep sequencing of these genes in FCD/HME brain tissue identified an etiology in 27 of 66 cases (41%). Radiographically indistinguishable lesions are caused by somatic activating mutations in AKT3, MTOR, and PIK3CA and germline loss-of-function mutations in DEPDC5, NPRL2, and TSC1/2, including TSC2 mutations in isolated HME demonstrating a "two-hit" model...
December 26, 2017: Cell Reports
https://www.readbyqxmd.com/read/29279945/dysplasia-and-overgrowth-magnetic-resonance-imaging-of-pediatric-brain-abnormalities-secondary-to-alterations-in-the-mechanistic-target-of-rapamycin-pathway
#7
REVIEW
Shai Shrot, Misun Hwang, Carl E Stafstrom, Thierry A G M Huisman, Bruno P Soares
The current classification of malformations of cortical development is based on the type of disrupted embryological process (cell proliferation, migration, or cortical organization/post-migrational development) and the resulting morphological anomalous pattern of findings. An ideal classification would include knowledge of biological pathways. It has recently been demonstrated that alterations affecting the mechanistic target of rapamycin (mTOR) signaling pathway result in diverse abnormalities such as dysplastic megalencephaly, hemimegalencephaly, ganglioglioma, dysplastic cerebellar gangliocytoma, focal cortical dysplasia type IIb, and brain lesions associated with tuberous sclerosis...
December 26, 2017: Neuroradiology
https://www.readbyqxmd.com/read/29278549/new-developments-in-understanding-focal-cortical-malformations
#8
Albert J Becker, Heinz Beck
PURPOSE OF REVIEW: Focal cortical dysplasias (FCDs) represent common cortical malformations that are frequently associated with epilepsy. They have so far not been well understood in terms of their molecular pathogenesis, and with respect to mechanisms of seizure emergence. RECENT FINDINGS: Several recent studies have succeeded in making significant advances in understanding the molecular genetics, in particular FCD type II. A second major advance has been the development of novel rodent models of FCDs that replicate a somatic mutation seen in humans, lead to a focal lesion, and recapitulate many phenotypic features of human FCDs...
December 22, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29274432/a-mouse-model-of-depdc5-related-epilepsy-neuronal-loss-of-depdc5-causes-dysplastic-and-ectopic-neurons-increased-mtor-signaling-and-seizure-susceptibility
#9
Christopher J Yuskaitis, Brandon M Jones, Rachel L Wolfson, Chloe E Super, Sameer C Dhamne, Alexander Rotenberg, David M Sabatini, Mustafa Sahin, Annapurna Poduri
DEPDC5 is a newly identified epilepsy-related gene implicated in focal epilepsy, brain malformations, and Sudden Unexplained Death in Epilepsy (SUDEP). In vitro, DEPDC5 negatively regulates amino acid sensing by the mTOR complex 1 (mTORC1) pathway, but the role of DEPDC5 in neurodevelopment and epilepsy has not been described. No animal model of DEPDC5-related epilepsy has recapitulated the neurological phenotypes seen in patients, and germline knockout rodent models are embryonic lethal. Here, we establish a neuron-specific Depdc5 conditional knockout mouse by cre-recombination under the Synapsin1 promotor...
December 20, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/29273383/seeg-guided-radiofrequency-thermocoagulation
#10
REVIEW
Pierre Bourdillon, Bertrand Devaux, Anne-Sophie Job-Chapron, Jean Isnard
We propose expert recommendations on the use of SEEG-guided radiofrequency thermocoagulation (RF-TC) based on an exhaustive literature review. This technique consists in performing a RF-TC lesion using a SEEG depth electrode at the end of the recording. It is indicated when conventional surgical resection of the ictal onset zone is not possible. SEEG guided RF-TC can also be considered as a diagnostic tool since an improvement, even limited, has a high positive predictive value concerning the good outcome after surgery...
December 19, 2017: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/29260614/neuroimaging-findings-in-pallister-killian-syndrome
#11
Emil Jernstedt Barkovich, Tarannum Musvee Lateef, Matthew T Whitehead
Pallister-Killian syndrome (PKS) is a rare chromosomal duplication disorder caused by additional copies of the short arm of chromosome 12 (12p). Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual disability, epilepsy, and abnormal muscle tone. Comprehensive high-resolution brain MR findings of PKS in childhood have not been previously illustrated in the medical literature. We present detailed neuroimaging findings from a child with PKS and thoroughly review previously reported structural brain abnormalities in this patient population...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/29258971/adult-onset-rasmussen-encephalitis-associated-with-focal-cortical-dysplasia
#12
Katharina Hohenbichler, Julie Lelotte, Renaud Lhommel, Riëm El Tahry, Pascal Vrielynck, Susana Ferrao Santos
Rasmussen encephalitis is a rare, devastating condition, typically presenting in childhood. Cases of adult-onset Rasmussen have also been described, but the clinical picture is less defined, rendering final diagnosis difficult. We present a case of adult-onset Rasmussen encephalitis with dual pathology, associated with focal cortical dysplasia and encephalitis. We interpreted the Rasmussen encephalitis to be caused by severe and continuous epileptic activity due to focal cortical dysplasia. The best therapeutic approach for such cases remains unclear...
December 20, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29246093/targeting-the-mammalian-target-of-rapamycin-for-epileptic-encephalopathies-and-malformations-of-cortical-development
#13
Anna Jeong, Michael Wong
Malformations of cortical development represent a common cause of epileptic encephalopathies and drug-resistant epilepsy in children. As current treatments are often ineffective, new therapeutic targets are needed for epileptic encephalopathies associated with cortical malformations. The mechanistic/mammalian target of rapamycin (mTOR) pathway constitutes a signaling pathway that drives cellular and molecular mechanisms of epileptogenesis in a variety of focal cortical malformations. mTOR inhibitors prevent epilepsy and associated pathogenic mechanisms of epileptogenesis in mouse models of tuberous sclerosis complex and are currently in clinical trials for drug-resistant seizures in these patients...
January 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29244691/delayed-onset-sciatic-nerve-palsy-after-periacetabular-osteotomy-a-case-report
#14
Michael Leunig, Jonathan M Vigdorchik, Aidin Eslam Pour, Silvia Willi-Dähn, Reinhold Ganz
CASE: A large surgical correction was required for severe hip dysplasia, which was associated with a delayed-onset sciatic nerve injury in an adolescent patient. A cortical bone spur on the outside of the acetabular fragment produced an indirect injury that became symptomatic during mobilization of the patient. CONCLUSION: The risk of direct injury to the sciatic nerve during a periacetabular osteotomy is quite low when the osteotomy is executed in extension with abduction of the hip and flexion of the knee to reduce tension on the sciatic nerve...
January 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29236207/factors-related-to-disagreement-in-implant-size-between-preoperative-ct-based-planning-and-the-actual-implants-used-intraoperatively-for-total-hip-arthroplasty
#15
Takeshi Ogawa, Masaki Takao, Takashi Sakai, Nobuhiko Sugano
PURPOSE: In total hip arthroplasty, prediction of the optimal implant size is important in order to prevent perioperative complications. However, it is not easy to achieve complete agreement between the planned size and the actual size required appropriate implant fit. No previous report has adequately discussed the factors related to mismatch between predicted and actual implant sizes. The purpose was to report the results of a single surgeon case series of patients undergoing THA using computed tomography (CT)-based templating and the possible factors related to implant size mismatch...
December 13, 2017: International Journal of Computer Assisted Radiology and Surgery
https://www.readbyqxmd.com/read/29230158/significant-improvement-of-clinical-symptoms-bone-lesions-and-bone-turnover-after-long-term-zoledronic-acid-treatment-in-patients-with-a-severe-form-of-camurati-engelmann-disease
#16
Giampiero I Baroncelli, Elena Ferretti, Cecilia M Pini, Benedetta Toschi, Rita Consolini, Silvano Bertelloni
Camurati-Engelmann disease (CED) is an ultrarare autosomal dominant bone dysplasia. Cortical thickening of the diaphyses of the long bones with narrowing of the medullary cavity are associated with bone pain, waddling gait, muscular weakness, easy fatigability, and a marfanoid body habitus. There is no specific treatment for CED. Nonsteroidal anti-inflammatory drugs or glucocorticoids are ineffective in improving bone lesions. A family with a mild to severe form of CED is described. Two patients received long-term bisphosphonate treatment: the 19-year-old female proband was treated with zoledronic acid for 2...
November 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29227798/histological-and-mri-markers-of-white-matter-damage-in-focal-epilepsy
#17
REVIEW
Francesco Deleo, Maria Thom, Luis Concha, Andrea Bernasconi, Boris C Bernhardt, Neda Bernasconi
Growing evidence highlights the importance of white matter in the pathogenesis of focal epilepsy. Ex vivo and post-mortem studies show pathological changes in epileptic patients in white matter myelination, axonal integrity, and cellular composition. Diffusion-weighted MRI and its analytical extensions, particularly diffusion tensor imaging (DTI), have been the most widely used technique to image the white matter in vivo for the last two decades, and have shown microstructural alterations in multiple tracts both in the vicinity and at distance from the epileptogenic focus...
November 23, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29219786/periinsular-anterior-quadrantotomy-technical-note
#18
Giulia Cossu, Sebastien Lebon, Margitta Seeck, Etienne Pralong, Mahmoud Messerer, Eliane Roulet-Perez, Roy Thomas Daniel
Refractory frontal lobe epilepsy has been traditionally treated through a frontal lobectomy. A disconnective technique may allow similar seizure outcomes while avoiding the complications associated with large brain resections. The aim of this study was to describe a new technique of selective disconnection of the frontal lobe that can be performed in cases of refractory epilepsy due to epileptogenic foci involving 1 frontal lobe (anterior to the motor cortex), with preservation of motor function. In addition to the description of the technique, an illustrative case is also presented...
December 8, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29201293/calcar-femorale-in-patients-with-osteoarthritis-of-the-hip-secondary-to-developmental-dysplasia
#19
Tomonori Tetsunaga, Kazuo Fujiwara, Hirosuke Endo, Tomoko Tetsunaga, Naofumi Shiota, Toru Sato, Toshifumi Ozaki
Background: We investigated whether the calcar femorale, a cortical septum in the region of the lesser trochanter of the femur, correlates with results of femoral stem implantation in patients with osteoarthritis of the hip secondary to developmental dysplasia using computed tomography. Methods: This retrospective study included 277 hips (41 males and 236 females; age, 37 to 92 years) of patients who had presented to Okayama Medical Center with hip pain. Of these, a total of 219 hips (31 males and 188 females) had previously undergone total hip arthroplasty...
December 2017: Clinics in Orthopedic Surgery
https://www.readbyqxmd.com/read/29197666/surgical-outcome-and-predictive-factors-of-epilepsy-surgery-in-pediatric-isolated-focal-cortical-dysplasia
#20
Sun Ah Choi, Soo Yeon Kim, Hyuna Kim, Woo Joong Kim, Hunmin Kim, Hee Hwang, Ji Eun Choi, Byung Chan Lim, Jong-Hee Chae, Sangjoon Chong, Ji Yeoun Lee, Ji Hoon Phi, Seung-Ki Kim, Kyu-Chang Wang, Ki Joong Kim
OBJECTIVE: Focal cortical dysplasia (FCD) is a common cause of medically intractable epilepsy in children. Epilepsy surgery has been a valuable treatment option to achieve seizure freedom in these intractable epilepsy patients. We aimed to present long-term surgical outcome, in relation to pathological severity, and to assess predictive factors of epilepsy surgery in pediatric isolated FCD. METHODS: We retrospectively analyzed the data of 58 children and adolescents, with FCD International League Against Epilepsy (ILAE) task force classification types I and II, who underwent resective epilepsy surgery and were followed for at least 2 years after surgery...
November 27, 2017: Epilepsy Research
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