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https://www.readbyqxmd.com/read/28056425/fcd-type-ii-and-mtor-pathway-evidence-for-different-mechanisms-involved-in-the-pathogenesis-of-dysmorphic-neurons
#1
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/28036289/expression-of-pannexin-1-and-2-in-cortical-lesions-from-intractable-epilepsy-patients-with-focal-cortical-dysplasia
#2
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...
December 28, 2016: Oncotarget
https://www.readbyqxmd.com/read/28025990/focal-cortical-dysplasia-molecular-disturbances-and-clinicopathological-classification-review
#3
Monika Siedlecka, Wiesława Grajkowska, Ryszard Galus, Bożenna Dembowska-Bagińska, Jarosław Jóźwiak
Focal cortical dysplasia (FCD) is one of the most important causes of drug-resistant epilepsy in paediatric patients, particularly in those below the age of 3. Even though over 40 years have passed since the first description of the entity by Taylor, the exact mechanisms causing these cortical abnormalities remain unelucidated. In this review, we summarise the current knowledge on clinical and histopathological aspects, taking into account the new classification system proposed by the International League Against Epilepsy...
November 2016: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28006863/concordant-and-discordant-familial-cancer-familial-risks-proportions-and-population-impact
#4
Christoph Frank, Jan Sundquist, Hongyao Yu, Akseli Hemminki, Kari Hemminki
Relatives of cancer patients are at an increased risk of the same (concordant) cancer but whether they are at a risk for different (discordant) cancers is largely unknown - beyond well characterized hereditary cancer syndromes - but would be of major scientific and clinical interest. We therefore decided to resolve the issue by analyzing familial risks when family members were diagnosed with any discordant cancers. We compared the population impact of concordant to discordant familial cancer. The Swedish Family-Cancer Database (FCD) was used to calculate familial relative risks (RRs) for family members of cancer patients, for the 27 most common cancers...
December 22, 2016: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28006783/altered-long-and-short-range-functional-connectivity-in-patients-with-betel-quid-dependence-a-resting-state-functional-mri-study
#5
Tao Liu, Jianjun Li, Zhiqiang Zhang, Qiang Xu, Guangming Lu, Shixiong Huang, Mengjie Pan, Feng Chen
OBJECTIVE: Addiction is a chronic relapsing brain disease. Brain structural abnormalities may constitute an abnormal neural network that underlies the risk of drug dependence. We hypothesized that individuals with Betel Quid Dependence (BQD) have functional connectivity alterations that can be described by long- and short-range functional connectivity density(FCD) maps. METHODS: We tested this hypothesis using functional magnetic resonance imaging (fMRI) data from subjects of the Han ethnic group in Hainan, China...
2016: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/27989972/frontal-lobe-decortication-frontal-lobectomy-with-ventricular-preservation-in-epilepsy-part-1-anatomical-landmarks-and-surgical-technique
#6
Hung Tzu Wen, Leila Maria Da Róz, Albert L Rhoton, Luiz Henrique Martins Castro, Manoel Jacobsen Teixeira
BACKGROUND: An extensive frontal resection is a frequently performed neurosurgical procedure, especially for treating brain tumor and refractory epilepsy. However, there is paucity of reports available regarding its surgical anatomy and technique. OBJECTIVES: To present the anatomical landmarks and surgical technique of the frontal lobe decortication (FLD) in epilepsy. The goals are to maximize the gray matter removal, spare primary and supplementary motor areas, and preserving frontal horn...
October 27, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27980110/dynamic-reconfiguration-of-visuomotor-related-functional-connectivity-networks
#7
Andrea Brovelli, Jean-Michel Badier, Francesca Bonini, Fabrice Bartolomei, Olivier Coulon, Guillaume Auzias
: Cognitive functions arise from the coordination of large-scale brain networks. Yet, the principles governing interareal functional connectivity dynamics (FCD) remain elusive. Here, we test the hypothesis that human executive functions arise from the dynamic interplay of multiple networks. To do so, we investigated FCD mediating a key executing function, known as arbitrary visuomotor mapping, using brain connectivity analyses of high-gamma activity recorded using magnetoencephalography and intracranial electroencephalography...
December 15, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27960132/compatibility-of-mri-and-fdg-pet-findings-with-histopathological-results-in-patients-with-focal-cortical-dysplasia
#8
Gulistan Halac, Sakir Delil, Dila Zafer, Cihan Isler, Mustafa Uzan, Nil Comunoglu, Buge Oz, S Naz Yeni, Betul Vatankulu, Metin Halac, Cıgdem Ozkara
PURPOSE: The present study aimed to determine if the specific characteristics of fluorodeoxyglucose-positron emission tomography (FDG-PET) analyses of the FCD subgroups were compatible with the magnetic resonance imaging (MRI) and clinical findings of the patients in these subgroups. METHODS: This study included 71 patients who had a presurgical evaluation workup performed due to drug-resistant seizures, who underwent epilepsy surgery, and who were histopathologically diagnosed with FCD...
December 6, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27891080/enhanced-burst-suppression-and-disruption-of-local-field-potential-synchrony-in-a-mouse-model-of-focal-cortical-dysplasia-exhibiting-spike-wave-seizures
#9
Anthony J Williams, Chen Zhou, Qian-Quan Sun
Focal cortical dysplasias (FCDs) are a common cause of brain seizures and are often associated with intractable epilepsy. Here we evaluated aberrant brain neurophysiology in an in vivo mouse model of FCD induced by neonatal freeze lesions (FLs) to the right cortical hemisphere (near S1). Linear multi-electrode arrays were used to record extracellular potentials from cortical and subcortical brain regions near the FL in anesthetized mice (5-13 months old) followed by 24 h cortical electroencephalogram (EEG) recordings...
2016: Frontiers in Neural Circuits
https://www.readbyqxmd.com/read/27885945/clinical-imaging-and-immunohistochemical-characteristics-of-focal-cortical-dysplasia-type-ii-extratemporal-epilepsies-in-children-analyses-of-an-institutional-case-series
#10
Friederike Knerlich-Lukoschus, Mary B Connolly, Glenda Hendson, Paul Steinbok, Christopher Dunham
OBJECTIVE Focal cortical dysplasia (FCD) Type II is divided into 2 subgroups based on the absence (IIA) or presence (IIB) of balloon cells. In particular, extratemporal FCD Type IIA and IIB is not completely understood in terms of clinical, imaging, biological, and neuropathological differences. The aim of the authors was to analyze distinctions between these 2 formal entities and address clinical, MRI, and immunohistochemical features of extratemporal epilepsies in children. METHODS Cases formerly classified as Palmini FCD Type II nontemporal epilepsies were identified through the prospectively maintained epilepsy database at the British Columbia Children's Hospital in Vancouver, Canada...
November 25, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27864929/temporal-lobe-epilepsy-and-focal-cortical-dysplasia-in-children-a-tip-to-find-the-abnormality
#11
Luca Bartolini, Matthew T Whitehead, Cheng-Ying Ho, Leigh N Sepeta, Chima O Oluigbo, Kathryn Havens, Emily R Freilich, John M Schreiber, William D Gaillard
OBJECTIVE: To demonstrate an association between magnetic resonance imaging (MRI) findings and pathologic characteristics in children who had surgery for medically refractory epilepsy due to focal cortical dysplasia (FCD). METHODS: We retrospectively studied 110 children who had epilepsy surgery. Twenty-seven patients with FCD were included. Thirteen had temporal lobe epilepsy (TLE) and 14 had extra-temporal lobe epilepsy (ETLE). Three patients had associated mesial temporal sclerosis...
January 2017: Epilepsia
https://www.readbyqxmd.com/read/27861502/abnormal-profiles-of-local-functional-connectivity-proximal-to-focal-cortical-dysplasias
#12
René M H Besseling, Jacobus F A Jansen, Anton J A de Louw, Mariëlle C G Vlooswijk, M Christianne Hoeberigs, Albert P Aldenkamp, Walter H Backes, Paul A M Hofman
INTRODUCTION: Focal cortical dysplasia (FCD) is a congenital malformation of cortical development that often leads to medically refractory epilepsy. Focal resection can be an effective treatment, but is challenging as the surgically relevant abnormality may exceed the MR-visible lesion. The aim of the current study is to develop methodology to characterize the profile of functional connectivity around FCDs using resting-state functional MRI and in the individual patient. The detection of aberrant connectivity may provide a means to more completely delineate the clinically relevant lesion...
2016: PloS One
https://www.readbyqxmd.com/read/27859041/increased-subcortical-oligodendroglia-like-cells-in-pharmacoresistant-focal-epilepsy-in-children-correlate-with-extensive-epileptogenic-zones
#13
Satoru Sakuma, William C Halliday, Ruka Nomura, Shiro Baba, Yosuke Sato, Kazuo Okanari, Midori Nakajima, Elysa Widjaja, Cyrus Boelman, Ayako Ochi, O Carter Snead, James T Rutka, James Drake, Steven Miller, Hiroshi Otsubo
OBJECTIVE: Cortical resections in epilepsy surgery tend to involve multiple lobes in children, compared to adults, partly due to underlying pathology. Oligodendroglia-like cells (OLCs) have been observed in surgical specimens from children with pharmacoresistant epilepsy. We hypothesize that OLCs recruit multiple-lobe epileptogenic zones in pediatric pharmacoresistant focal epilepsy. METHODS: We examined the surgical specimens from 30 children who underwent epilepsy surgery (1...
December 2016: Epilepsia
https://www.readbyqxmd.com/read/27852375/-study-of-functional-connectivity-density-mapping-in-patients-with-acute-stress-response-by-using-resting-state-functional-mri-after-traffic-accident
#14
Y F Weng, R F Qi, X D Zhang, L Zhang, J Ke, Y Zhong, F Chen, Q Xu, G M Lu
Objective: To explore the changes of brain activity in traffic accident survivors with acute stress response within a week by using functional connectivity density (FCD) method. Method: A total of 20 traffic accidents survivors with acute stress disorders (acute stress disorder interview >3) and twenty healthy controls from Nanjing Jinling Hospital underwent the 3.0 T resting-state functional magnetic resonance imaging scan from January 2013 to February 2016. Functional connectivity density mapping was used to compare the brain functional connective networks between acute stress response survivors and controls...
November 8, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/27848148/disrupted-functional-connectivity-density-in-irritable-bowel-syndrome-patients
#15
Yifei Weng, Rongfeng Qi, Chang Liu, Jun Ke, Qiang Xu, Fangyu Wang, Long Jiang Zhang, Guang Ming Lu
Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder resulting from a dysregulation of the brain-gut axis. However, its exact neural substrate still remains unclear. This study investigated the changes of intrinsic whole brain functional connectivity pattern in IBS using functional connectivity density (FCD). We acquired resting-state functional magnetic resonance imaging (rs-fMRI) data from thirty-two IBS patients and thirty-two healthy controls. Functional connectivity density, a data-driven algorithm, was used to compute the long-range and short-range FCD values for each voxel in the brain of each subject, implying the amount of distant and local functional connections of cortical hubs...
November 15, 2016: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/27834621/repeat-surgery-for-focal-cortical-dysplasias-in-children-indications-and-outcomes
#16
Matthew F Sacino, Cheng-Ying Ho, Matthew T Whitehead, Amy Kao, Dewi Depositario-Cabacar, John S Myseros, Suresh N Magge, Robert F Keating, William D Gaillard, Chima O Oluigbo
OBJECTIVE Focal cortical dysplasia (FCD) is a common cause of medically intractable epilepsy that often may be treated by surgery. Following resection, many patients continue to experience seizures, necessitating a decision for further surgery to achieve the desired seizure outcomes. Few studies exist on the efficacy of reoperation for intractable epilepsy due to FCD in pediatric cohorts, including the definition of prognostic factors correlated with clinical benefit from further resection. METHODS The authors retrospectively analyzed the medical records and MR images of 22 consecutive pediatric patients who underwent repeat FCD resection after unsuccessful first surgery at the Children's National Health System between March 2005 and April 2015...
November 11, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27830187/germline-and-somatic-mutations-in-the-mtor-gene-in-focal-cortical-dysplasia-and-epilepsy
#17
Rikke S Møller, Sarah Weckhuysen, Mathilde Chipaux, Elise Marsan, Valerie Taly, E Martina Bebin, Susan M Hiatt, Jeremy W Prokop, Kevin M Bowling, Davide Mei, Valerio Conti, Pierre de la Grange, Sarah Ferrand-Sorbets, Georg Dorfmüller, Virginie Lambrecq, Line H G Larsen, Eric Leguern, Renzo Guerrini, Guido Rubboli, Gregory M Cooper, Stéphanie Baulac
OBJECTIVE: To assess the prevalence of somatic MTOR mutations in focal cortical dysplasia (FCD) and of germline MTOR mutations in a broad range of epilepsies. METHODS: We collected 20 blood-brain paired samples from patients with FCD and searched for somatic variants using deep-targeted gene panel sequencing. Germline mutations in MTOR were assessed in a French research cohort of 93 probands with focal epilepsies and in a diagnostic Danish cohort of 245 patients with a broad range of epilepsies...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27824513/aberrant-expression-of-mir-323a-5p-in-patients-with-refractory-epilepsy-caused-by-focal-cortical-dysplasia
#18
Ningwei Che, Guo Zu, Tingting Zhou, Xiaofeng Wang, Yuqiang Sun, Zeshi Tan, Yaoling Liu, Dong Wang, Xiaodong Luo, Ze Zhao, Yue Zhang, Minghai Wei, Jian Yin
BACKGROUND: Epilepsy remains one of the most common clinical neurological disorders. About a third of patients with epilepsy are refractory to drug treatment, mainly as a result of focal cortical dysplasia (FCD). In this study, we analyzed the aberrant expression of microRNAs (miRNAs) in the cortex and plasma of FCD patients. METHODS: Cortical samples were collected from nine patients with refractory epilepsy caused by FCD who underwent surgery, and from eight volunteers (control group) undergoing emergency surgery for hypertensive cerebral hemorrhage...
January 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27818371/ictal-spect-is-useful-in-localizing-the-epileptogenic-zone-in-infants-with-cortical-dysplasia
#19
Martin Kudr, Pavel Krsek, Bruno Maton, Stephen Malone, Alena Jahodova, Vladimir Komarek, Prasanna Jayakar, Michael Duchowny
AIMS: To assess the localizing value of ictal SPECT in very young epilepsy surgery candidates when cerebral haemodynamic responses are known to be immature. METHODS: We retrospectively studied 13 infants with intractable focal epilepsy caused by focal cortical dysplasia (FCD). Completeness of resection of the (1) ictal SPECT hyperperfusion zone and (2) cerebral cortex with prominent ictal and interictal abnormalities on intracranial EEG (ECoG or long-term invasive monitoring) and the MRI lesion, when present, were correlated with postoperative seizure outcome...
December 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27811565/automated-retroillumination-photography-analysis-for-objective-assessment-of-fuchs-corneal-dystrophy
#20
Allen O Eghrari, Aisha A Mumtaz, Brian Garrett, Mahsa Rezaei, Mina S Akhavan, S Amer Riazuddin, John D Gottsch
PURPOSE: Retroillumination photography analysis is an objective tool for the assessment of the number and distribution of guttae in eyes affected with Fuchs corneal dystrophy (FCD). Current protocols include manual processing of images; here, we assess validity and interrater reliability of automated analysis across various levels of FCD severity. METHODS: Retroillumination photographs of 97 FCD-affected corneas were acquired, and total counts of guttae were previously summated manually...
January 2017: Cornea
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