keyword
MENU ▼
Read by QxMD icon Read
search

Cortical dysplasia

keyword
https://www.readbyqxmd.com/read/28524219/-epileptic-encephalopathies
#1
J Ramos-Lizana
According to the International League Against Epilepsy's (ILAE) Commission on Classification and Terminology, the term 'epileptic encephalopathy' reflects the notion that epileptic activity in itself can contribute to the genesis of severe cognitive or behavioural disabilities, beyond what could be expected from the pathology underlying the epilepsy. However, in many cases it is difficult to define the boundary between the relative contribution of the epileptic seizures and the underlying cause in the genesis of cognitive deficits...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28510905/zoomed-mri-guided-by-combined-eeg-meg-source-analysis-a-multimodal-approach-for-optimizing-presurgical-epilepsy-work-up-and-its-application-in-a-multi-focal-epilepsy-patient-case-study
#2
Ü Aydin, S Rampp, A Wollbrink, H Kugel, J -H Cho, T R Knösche, C Grova, J Wellmer, C H Wolters
In recent years, the use of source analysis based on electroencephalography (EEG) and magnetoencephalography (MEG) has gained considerable attention in presurgical epilepsy diagnosis. However, in many cases the source analysis alone is not used to tailor surgery unless the findings are confirmed by lesions, such as, e.g., cortical malformations in MRI. For many patients, the histology of tissue resected from MRI negative epilepsy shows small lesions, which indicates the need for more sensitive MR sequences...
May 16, 2017: Brain Topography
https://www.readbyqxmd.com/read/28507642/diagnostic-imaging-of-pregnant-women-the-role-of-magnetic-resonance-imaging
#3
Monika Bekiesińska-Figatowska, Anna Romaniuk-Doroszewska, Sylwia Szkudlińska-Pawlak, Agnieszka Duczkowska, Jarosław Mądzik, Martyna Szopa-Krupińska, Tomasz M Maciejewski
BACKGROUND: Presentation of magnetic resonance imaging (MRI) findings in pregnant women in the Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland. MATERIAL/METHODS: Forty-three symptomatic pregnant women underwent MRI between 9 and 33 weeks of gestation (mean of 23 weeks). Moreover, we included 2 pregnant women who underwent fetal MRI and had incidental abnormalities. RESULTS: In 9 cases, we excluded the suspected brain abnormalities...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28491496/towards-in-vivo-focal-cortical-dysplasia-phenotyping-using-quantitative-mri
#4
REVIEW
Sophie Adler, Sara Lorio, Thomas S Jacques, Barbora Benova, Roxana Gunny, J Helen Cross, Torsten Baldeweg, David W Carmichael
Focal cortical dysplasias (FCDs) are a range of malformations of cortical development each with specific histopathological features. Conventional radiological assessment of standard structural MRI is useful for the localization of lesions but is unable to accurately predict the histopathological features. Quantitative MRI offers the possibility to probe tissue biophysical properties in vivo and may bridge the gap between radiological assessment and ex-vivo histology. This review will cover histological, genetic and radiological features of FCD following the ILAE classification and will explain how quantitative voxel- and surface-based techniques can characterise these features...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28491494/the-relationship-between-morphological-lesion-magnetic-source-imaging-and-intracranial-stereo-electroencephalography-in-focal-cortical-dysplasia
#5
Romain Bouet, François Mauguière, Sébastien Daligault, Jean Isnard, Marc Guenot, Olivier Bertrand, Julien Jung
Magnetoencephalography (MEG) is a useful non-invasive technique for presurgical evaluation of focal cortical dysplasia patients. We aimed at clarifying the precise spatial relationship between the spiking volume determined with MEG, the seizure onset zone and the lesional volume in patients with focal cortical dysplasia. We studied the spatial relationships between the MEG spiking volume determined with a recent analysis pipeline, the seizure-onset zone location determined with a quantitative index calculated from intracranial EEG signals ('Epileptogenicity Index') and the lesional volume delineated on brain MRI in 11 patients with Focal Cortical Dysplasia explored with Stereo-electroencephalography (SEEG)...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28491196/cerebral-palsy-and-seizures-in-a-child-with-tubulinopathy-pattern-dysgenesis-and-focal-cortical-dysplasia
#6
Kevin M Sweet, Dennis W W Shaw, Teresa Chapman
A 7-year-old boy with a history of spasticity, global developmental delay, and seizures was given the general diagnosis of cerebral palsy at an early age. Chromosomal array analysis performed at an outside center was normal. The patient's family sought neurodevelopmental pediatric care at a new institution following a move out of state. Electroencephalography confirmed abnormal epileptogenic activity. Brain magnetic resonance imaging showed findings consistent with a tubulin gene defect (tubulinopathy) and of focal cortical dysplasia, as well as evidence of a remote occipital lobe injury...
June 2017: Radiology case reports
https://www.readbyqxmd.com/read/28490224/prevalence-of-abnormal-magnetic-resonance-imaging-findings-in-children-with-persistent-symptoms-after-pediatric-sports-related-concussion
#7
Robert H Bonow, Seth D Friedman, Francisco A Perez, Richard G Ellenbogen, Samuel R Browd, Christine L MacDonald, Monica S Vavilala, Frederick P Rivara
A subset of patients experience persistent symptoms after pediatric concussion, and magnetic resonance imaging (MRI) is commonly used to evaluate for pathology. The utility of this practice is unclear. We conducted a retrospective cohort study to describe the MRI findings in children with concussion. A registry of all patients seen at our institution from January 2010 through March 2016 with pediatric sports-related concussion was cross-referenced with a database of radiographic studies. Radiology reports were reviewed for abnormal findings...
May 10, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28482731/clinical-and-radiologic-spectrum-of-septo-optic-dysplasia-review-of-17-cases
#8
Callie Alt, Michael I Shevell, Chantal Poulin, Bernard Rosenblatt, Christine Saint-Martin, Myriam Srour
We retrospectively reviewed the clinical and radiologic characteristics of 17 individuals with septo-optic dysplasia (SOD) and attempted to identify correlations between imaging findings, clinical features, and neurodevelopmental outcome. Surprisingly, only 1 (6%) individual was classified as classic SOD (with septum pellucidum/corpus callosum dysgenesis), 3 (18%) as SOD-like (with normal septum pellucidum/corpus callosum) and the majority, 13 (76%), as SOD-plus (with cortical brain malformation). Cortical abnormalities included schizencephaly, polymicrogyria, and gray matter heterotopias...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28475999/prevalence-and-risk-factors-of-seizure-clusters-in-adult-patients-with-epilepsy
#9
Baibing Chen, Hyunmi Choi, Lawrence J Hirsch, Austen Katz, Alexander Legge, Rebecca A Wong, Alfred Jiang, Kenneth Kato, Richard Buchsbaum, Kamil Detyniecki
PURPOSE: In the current study, we explored the prevalence of physician-confirmed seizure clusters. We also investigated potential clinical factors associated with the occurrence of seizure clusters overall and by epilepsy type. METHODS: We reviewed medical records of 4116 adult (≥16years old) outpatients with epilepsy at our centers for documentation of seizure clusters. Variables including patient demographics, epilepsy details, medical and psychiatric history, AED history, and epilepsy risk factors were then tested against history of seizure clusters...
April 27, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28457820/differential-roles-for-akt-and-mtorc1-in-the-hypertrophy-of-pten-mutant-neurons-a-cellular-model-of-brain-overgrowth-disorders
#10
Ina Nikolaeva, Tatiana M Kazdoba, Beth Crowell, Gabriella D'Arcangelo
Mutations in the PI3K/Akt/mTOR signaling pathway or in the upstream negative regulator Pten cause human brain overgrowth disorders, such as focal cortical dysplasia and megalencephaly, and are characterized by the presence of hypertrophic neurons. These disorders often have a pediatric onset and a high comorbidity with drug-resistant epilepsy; however, effective pharmacological treatments are lacking. We established forebrain excitatory neuron-specific Pten-deficient cultures as an in vitro model of brain overgrowth disorders, and investigated the effects of this Pten mutation on PI3K/Akt/mTOR signaling and neuronal growth...
April 27, 2017: Neuroscience
https://www.readbyqxmd.com/read/28455787/elevated-expression-of-trpc4-in-cortical-lesions-of-focal-cortical-dysplasia-ii-and-tuberous-sclerosis-complex
#11
Lu-Kang Wang, Xin Chen, Chun-Qing Zhang, Chao Liang, Yu-Jia Wei, Jiong Yue, Shi-Yong Liu, Hui Yang
Focal cortical dysplasia type II (FCD II) and tuberous sclerosis complex (TSC) are well-known causes of chronic refractory epilepsy in children. Canonical transient receptor potential channels (TRPCs) are non-selective cation channels that are commonly activated by phospholipase C (PLC) stimulation. Previous studies found that TRPC4 may participate in the process of epileptogenesis. This study aimed to examine the expression and distribution of TRPC4 in FCD II (n = 24) and TSC (n = 11) surgical specimens compared with that in age-matched autopsy control samples (n = 12)...
April 28, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28455196/maternal-il-17a-in-autism
#12
REVIEW
Helen Wong, Charles Hoeffer
Although autism spectrum disorder (ASD) has a strong genetic basis, its etiology is complex, with several genetic factors likely to be involved as well as environmental factors. Immune dysregulation has gained significant attention as a causal mechanism in ASD pathogenesis. ASD has been associated with immune abnormalities in the brain and periphery, including inflammatory disorders and autoimmunity in not only the affected individuals but also their mothers. Prenatal exposure to maternal immune activation (MIA) has been implicated as an environmental risk factor for ASD...
April 25, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28441637/subtle-pathological-changes-in-neocortical-temporal-lobe-epilepsy
#13
Juan G Ochoa, Diana Hentgarden, Audrey Paulzak, Melissa Ogden, Richard Pryson, Markus Lamle, Walter G Rusyniak
This was a prospective observational study to correlate the clinical symptoms, electrophysiology, imaging, and surgical pathology of patients with temporal lobe epilepsy (TLE) without hippocampal sclerosis. We selected consecutive patients with TLE and normal MRI undergoing temporal lobe resection between April and September 2015. Clinical features, imaging, and functional data were reviewed. Intracranial monitoring and language mapping were performed when it was required according to our team recommendation...
April 22, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28440867/the-epileptology-of-koolen-de-vries-syndrome-electro-clinico-radiologic-findings-in-31-patients
#14
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping...
April 25, 2017: Epilepsia
https://www.readbyqxmd.com/read/28439311/treatment-of-shepherd-s-crook-deformity-in-patients-with-polyostotic-fibrous-dysplasia-using-a-new-type-of-custom-made-retrograde-intramedullary-nail-a-technical-note
#15
F Hefti, L Donnan, A H Krieg
AIMS: The severe form of coxa vara, the 'shepherd's crook deformity', is always a consequence of a locally extensive form of polyostotic fibrous dysplasia (or McCune-Albright syndrome). Treatment of this deformity is a challenge. The soft bone does not tolerate any implant that depends on the stability of the cortical bone (like plates or external fixators). Intramedullary nails are the most appropriate implants for stabilisation, but if they are inserted from the greater trochanter, they cannot correct the varus deformity enough...
2017: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/28438404/quantitative-ultrasound-and-tibial-dysplasia-in-neurofibromatosis-type-1
#16
David A Stevenson, Heather Hanson, Austin Stevens, John Carey, David Viskochil, Xiaoming Sheng, Karen Wheeler, Hillarie Slater
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder associated with unilateral anterolateral bowing with subsequent fracture and nonunion. In infancy, physiologic bowing of the lower leg can be confused with pathologic tibial dysplasia in NF1. Little is known about the bone physiology of the tibiae prior to fracture or predictors of fracture. The aim of this study was to characterize bone quality of bowed tibiae prior to fracture in NF1 using quantitative ultrasound (QUS). Bone quality was assessed on both tibiae (the non-bowed and bowed tibiae) using QUS to measure speed of sound (SOS) at the mid-shaft in 23 individuals with NF1...
April 21, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28430287/dysembryoplastic-neuroepithelial-tumour-insight-into-the-pathology-and-pathogenesis
#17
Iwona Sontowska, Ewa Matyja, Jacek Malejczyk, Wieslawa Grajkowska
<i>Dysembryoplastic neuroepithelial tumour (DNT) is categorized as a benign glioneuronal neoplasm affecting children and young adults with chronic epileptic seizures. It is characterized by predominant intracortical localization and nodular architecture. Dysembryoplastic neuroepithelial tumour usually demonstrates a distinctive morphological pattern with a specific glioneuronal element but occasionally, its morphological picture is heterogeneous and unspecific. Thus, considering the morphology of DNT, three different histopathological subtypes are distinguished: simple, complex, and non-specific and diffuse...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28427592/pathologic-active-mtor-mutation-in-brain-malformation-with-intractable-epilepsy-leads-to-cell-autonomous-migration-delay
#18
Sae Hanai, Sayuri Sukigara, Hongmei Dai, Tomoo Owa, Shin-Ichi Horike, Taisuke Otsuki, Takashi Saito, Eiji Nakagawa, Naoki Ikegaya, Takanobu Kaido, Noriko Sato, Akio Takahashi, Kenji Sugai, Yuko Saito, Masayuki Sasaki, Mikio Hoshino, Yu-Ichi Goto, Schuichi Koizumi, Masayuki Itoh
The activation of phosphatidylinositol 3-kinase-AKTs-mammalian target of rapamycin cell signaling pathway leads to cell overgrowth and abnormal migration and results in various types of cortical malformations, such as hemimegalencephaly (HME), focal cortical dysplasia, and tuberous sclerosis complex. However, the pathomechanism underlying abnormal cell migration remains unknown. With the use of fetal mouse brain, we performed causative gene analysis of the resected brain tissues from a patient with HME and investigated the pathogenesis...
May 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28427499/coexistent-venous-angioma-and-focal-cortical-dysplasia
#19
Richard A Prayson, Elizabeth E O'Toole
No abstract text is available yet for this article.
April 21, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28414661/delayed-presentation-of-tuberour-sclerosis-complex-in-adult-women
#20
J Manalac, S Sadd, G Akoghlanian, T Benoit-Clark
INTRODUCTION: Tuberous sclerosis complex (TSC); is an autosomal dominant disorder characterized by the formation of hamartomatous lesions in multiple organs, with a birth incidence of around one in 10,000. Although it usually manifests itself in early life, we present a case of an adult woman who we diagnosed with TSC. CASE: A 27 year old woman presented to Emergency Department with worsening right flank pain and progressive dyspnea. Physical examination findings revealed Shagreen patches and multiple angiomyolipomas of the skin...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
keyword
keyword
82382
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"