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https://www.readbyqxmd.com/read/27894944/surface-projected-flair-supr-flair-analysis-a-novel-tool-for-advanced-imaging-of-epilepsy
#1
Francesco Cardinale, Stefano Francione, Luciana Gennari, Alberto Citterio, Maurizio Sberna, Laura Tassi, Roberto Mai, Ivana Sartori, Lino Nobili, Massimo Cossu, Laura Castana, Giorgio Lo Russo, Nadia Colombo
OBJECTIVE: The objective of this pilot retrospective study is to describe the SUrface-PRojected FLuid-Attenuation-Inversion-Recovery (SUPR-FLAIR) analysis, a novel method mainly aimed at revealing cortical areas with subtle signal hyper-intensity. METHODS: Images from 101 healthy controls and ten patients suffering from drug-resistant partial epilepsy were retrospectively post-processed. Brain surface was reconstructed from a 3D T1-weighted fast field echo (3D T1W-FFE) MRI scan...
November 25, 2016: World Neurosurgery
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
#2
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
#3
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
#4
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...
November 16, 2016: Epilepsia
https://www.readbyqxmd.com/read/27862070/are-ultrasound-renal-aspects-associated-with-urinary-biochemistry-in-fetuses-with-lower-urinary-tract-obstruction
#5
Ahmed A Nassr, Chester Koh Koh, Alireza A Shamshirsaz, Jimmy Espinoza, Haleh Sangi-Haghpeykar, Dina Sharhan, Stephen Welty, Joseph Angelo, David Roth, Michael A Belfort, Michael Braun, Rodrigo Ruano
OBJECTIVE: To evaluate the association between ultrasonographic renal parameters and urine biochemistry in fetuses with lower urinary tract obstruction (LUTO). METHODS: Data were collected prospectively from 31 consecutive fetuses with LUTO that underwent vesicocentesis for fetal urinary biochemistry between April 2013 and September 2015. The following renal ultrasound markers were assessed immediately before the vesicocentesis: renal echogenicity, presence of cortical cysts, presence of findings suggestive of 'renal dysplasia' (hyperechogenic cystic kidneys with no cortical-medullary differentiation) and severe oligohydramnios (amniotic fluid < 5th percentile)...
November 12, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27861502/abnormal-profiles-of-local-functional-connectivity-proximal-to-focal-cortical-dysplasias
#6
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
#7
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...
November 8, 2016: Epilepsia
https://www.readbyqxmd.com/read/27834621/repeat-surgery-for-focal-cortical-dysplasias-in-children-indications-and-outcomes
#8
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
#9
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/27825664/-florid-osseous-dysplasia-management-of-a-symptomatic-case
#10
M Maccotta, L Radoï
INTRODUCTION: Florid osseous dysplasia is a rare and benign fibro-osseous pathology, in which bone is replaced by fibrous tissue and metaplastic bone. It can remain asymptomatic for a long time and is most often discovered incidentally during a radiological examination. Sometimes, patients are seen because of an infectious complication. OBSERVATION: An edentulous 62 years-old woman was referred for a painful mandibular swelling preventing insertion of her removable denture...
November 4, 2016: Revue de Stomatologie, de Chirurgie Maxillo-faciale et de Chirurgie Orale
https://www.readbyqxmd.com/read/27824513/aberrant-expression-of-mir-323a-5p-in-patients-with-refractory-epilepsy-caused-by-focal-cortical-dysplasia
#11
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...
November 8, 2016: 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
#12
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...
November 4, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27818370/can-diffusion-weighted-imaging-be-used-as-a-tool-to-predict-seizures-in-patients-with-pleds
#13
Jaishree Narayanan
It is unclear which patients with PLEDs will have associated seizures and therefore will need to be treated aggressively with antiepileptic medications. We present a prospective observational study of ten consecutive non-anoxic patients with PLEDs based on continuous 24-hour EEG monitoring. According to the EEG, five of the patients had seizures associated with PLEDs and five had PLEDs but no seizures. The aetiology included: neoplasm (n=1), cortical dysplasia (n=1), acute head trauma (n=1), encephalomalacia related to healed abscess (n=1), intra-parenchymal haemorrhage (n=1), and no structural lesion (n=5)...
November 4, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27818366/aicardi-syndrome-epilepsy-surgery-as-a-palliative-treatment-option-for-selected-patients-and-pathological-findings
#14
Irina Podkorytova, Ajay Gupta, Elaine Wyllie, Ahsan Moosa, William Bingaman, Richard Prayson, Elia M Pestana Knight
The optimal treatment for medically refractory epilepsy in Aicardi syndrome (AS) is still unclear. Palliative surgical treatment, including vagus nerve stimulation and corpus callosotomy, has therefore been used. There is limited data on the role of resective epilepsy surgery as a treatment choice in patients with AS. Here, we describe the seizures, anatomo-pathological findings, and neurodevelopmental outcome of palliative epilepsy surgery in two children with AS who had resective epilepsy surgery at the Cleveland Clinic...
November 4, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27812765/-esped-survey-tsc-disease-in-children-and%C3%A2-adolescents-preliminary-results-from-a%C3%A2-german%C3%A2-epidemiological-survey
#15
Lilian Mann, Daniel Ebrahimi-Fakhari, Beate Heinrich, Marina Flotats-Bastardas, Ludwig Gortner, Alexander von Gontard, Justine Niemcyzk, Martin Poryo, Sascha Meyer
BACKGROUND: Tuberous sclerosis complex (TSC) disease is a rare genetic, multi-organ disorder characterized by the occurrence of multiple hamartoma. METHODS: In cooperation with ESPED, Germany, a prospective, epidemiological study was performed to assess the incidence of newly diagnosed TSC disease in patients ≤18 years in Germany. Moreover, the following parameters were assessed: 1. Age distribution at initial diagnosis; 2. Percentage of patients with in utero diagnosis of TSC; 3...
November 3, 2016: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27811355/clinical-and-immunohistochemical-characteristics-of-type-ii-and-type-i-focal-cortical-dysplasia
#16
Kun Yao, Zejun Duan, Jian Zhou, Lin Li, Feng Zhai, Yanting Dong, Xiaoyan Wang, Zhong Ma, Yu Bian, Xueling Qi, Liang Li
Focal cortical dysplasia (FCD) II and I are major causes for drug-resistant epilepsy. In order to gain insight into the possible correlations between FCD II and FCD I, different clinical characteristics and immunohistochemical expression characteristics in FCD I and II were analyzed. The median age of onset and duration of epilepsy in FCD I and FCD II patients were 2.1 years and 5.3 years vs 2.4 years and 4.5 years. Therefore, the median age of onset and duration of epilepsy were similar in the two groups. Pathological lesions were predominantly located in frontal lobe in FCD II and temporal in FCD I...
November 1, 2016: Oncotarget
https://www.readbyqxmd.com/read/27784318/dietary-phosphate-supplement-does-not-rescue-skeletal-phenotype-in-a-mouse-model-for-craniometaphyseal-dysplasia
#17
Yaling Liu, Eliane H Dutra, Ernst J Reichenberger, I-Ping Chen
BACKGROUND: Mutations in the human progressive ankylosis gene (ANKH; Mus musculus ortholog Ank) have been identified as cause for craniometaphyseal dysplasia (CMD), characterized by progressive thickening of craniofacial bones and flared metaphyses of long bones. We previously reported a knock-in (KI) mouse model (Ank (KI/KI)) for CMD and showed transiently lower serum phosphate (Pi) as well as significantly higher mRNA levels of fibroblast growth factor 23 (Fgf23) in Ank (KI/KI) mice...
October 26, 2016: Journal of Negative Results in Biomedicine
https://www.readbyqxmd.com/read/27781032/genetic-basis-of-brain-malformations
#18
REVIEW
Elena Parrini, Valerio Conti, William B Dobyns, Renzo Guerrini
Malformations of cortical development (MCD) represent a major cause of developmental disabilities, severe epilepsy, and reproductive disadvantage. Genes that have been associated to MCD are mainly involved in cell proliferation and specification, neuronal migration, and late cortical organization. Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders causing severe global neurological impairment. Abnormalities of the LIS1, DCX, ARX, RELN, VLDLR, ACTB, ACTG1, TUBG1, KIF5C, KIF2A, and CDK5 genes have been associated with these malformations...
September 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27773428/biallelic-mutations-in-tmtc3-encoding-a-transmembrane-and-tpr-containing-protein-lead-to-cobblestone-lissencephaly
#19
Julie Jerber, Maha S Zaki, Jumana Y Al-Aama, Rasim Ozgur Rosti, Tawfeg Ben-Omran, Esra Dikoglu, Jennifer L Silhavy, Caner Caglar, Damir Musaev, Beate Albrecht, Kevin P Campbell, Tobias Willer, Mariam Almuriekhi, Ahmet Okay Çağlayan, Jiri Vajsar, Kaya Bilgüvar, Gonul Ogur, Rami Abou Jamra, Murat Günel, Joseph G Gleeson
Cobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and glial cells into the arachnoid space results in the formation of cortical dysplasia. COB occurs in a wide range of genetic disorders known as dystroglycanopathies, which are congenital muscular dystrophies associated with brain and eye anomalies and range from Walker-Warburg syndrome to Fukuyama congenital muscular dystrophy. Each of these conditions has been associated with alpha-dystroglycan defects or with mutations in genes encoding basement membrane components, which are known to interact with alpha-dystroglycan...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27766665/early-lipofuscin-accumulation-in-frontal-lobe-epilepsy
#20
Joan Yw Liu, Cheryl Reeves, Beate Diehl, Antonietta Coppola, Aliya Al-Hajri, Chandrashekar Hoskote, Salim Al Mughairy, Mohamed Tachrount, Michael Groves, Zuzanna Michalak, Kevin Mills, Andrew W McEvoy, Anna Miserocchi, Sanjay M Sisodiya, Maria Thom
OBJECTIVE: This study reports on a novel brain pathology in young patients with Frontal Lobe Epilepsy that is distinct from Focal Cortical Dysplasia. METHODS: Surgical specimens from twenty young adults with frontal lobe epilepsy (mean age, 30 years) were investigated with histological/immunohistochemical markers for cortical laminar architecture, mammalian target of rapamycin pathway activation and inhibition, cellular autophagy, and synaptic vesicle-mediated trafficking as well as proteomics analysis...
October 20, 2016: Annals of Neurology
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