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Cortical dysplasia

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
Apeksha Chaturvedi, R A C Dilhani Ranasinghe, Abhishek Chaturvedi, Steven P Meyers
BACKGROUND: Lesions involving the outer cortical surface of the bone occur quite often among children. Broadly, these include benign cortical, juxtacortical and periarticular lesions, dysplasias affecting the cortical bone, regional and diffuse periosteal pathology and malignant tumours. Some of these lesions are unique to the paediatric population; others are more frequently seen among children than adults - yet others have an adult predilection but can occasionally be seen in children...
October 19, 2016: Insights Into Imaging
Theresa Scholl, Angelika Mühlebner, Gerda Ricken, Victoria Gruber, Anna Fabing, Sharon Samueli, Gudrun Gröppel, Christian Dorfer, Thomas Czech, Johannes A Hainfellner, Avanita S Prabowo, Roy J Reinten, Lisette Hoogendijk, Jasper J Anink, Eleonora Aronica, Martha Feucht
Conventional antiepileptic drugs suppress the excessive firing of neurons during seizures. In drug-resistant patients, treatment failure indicates an alternative important epileptogenic trigger. Two epilepsy-associated pathologies show myelin deficiencies in seizure-related brain regions: Focal Cortical Dysplasia IIB (FCD) and cortical tubers in Tuberous Sclerosis Complex (TSC). Studies uncovering white matter-pathology mechanisms are therefore urgently needed to gain more insight into epileptogenesis, the propensity to maintain seizures, and their associated comorbidities such as cognitive defects...
October 17, 2016: Brain Pathology
Jason Misurac
Neonatal chronic kidney disease (CKD) occurs with an estimated incidence of 1 in 10,000 live births, whereas the incidence of neonatal end-stage renal disease (ESRD) is about 7.1 per million age-related population. The most frequent etiologies are renal hypoplasia/dysplasia, posterior urethral valves, and other congenital anomalies of the kidney and urinary tract. Other etiologies include polycystic kidney disease, cortical necrosis, and renal vascular thrombosis. Management of CKD focuses primarily on replacing renal functions such as erythropoietin, 1,25-hydroxylation of vitamin D, electrolyte homeostasis/excretion, and, in ESRD, waste product removal...
October 9, 2016: Seminars in Fetal & Neonatal Medicine
Eveline Teresa Hidalgo, Howard L Weiner
New developments in diagnostic methods, technical improvements in the surgical field, and a better understanding of the effects of epilepsy on the developing brain are contributing to the general observation that more children with epilepsy are being treated surgically. Malformations of cortical development are the most common cause of seizures in pediatric surgical candidates, and the best predictor of seizure freedom after surgery appears to be the complete removal of the epileptogenic lesion. To achieve this goal in challenging cases, such as magnetic resonance imaging-negative or multifocal lesions, a staged approach with pre- and/or post-resective invasive electroencephalography monitoring has increasingly been used at a number of centers...
October 11, 2016: Developmental Medicine and Child Neurology
Thomas Cloppenborg, Theodor W May, Ingmar Blümcke, Philip Grewe, Lena J Hopf, Thilo Kalbhenn, Margarete Pfäfflin, Tilman Polster, Reinhard Schulz, Friedrich G Woermann, Christian G Bien
INTRODUCTION: Despite the success of epilepsy surgery, recent reports suggest a decline in surgical numbers. We tested these trends in our cohort to elucidate potential reasons. PATIENTS AND METHODS: Presurgical, surgical and postsurgical data of all patients undergoing presurgical evaluation in between 1990 and 2013 were retrospectively analysed. Patients were grouped according to the underlying pathology. RESULTS: A total of 3060 patients were presurgically studied, and resective surgery was performed in 66...
October 5, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
Alexia M Thomas, Michael D Schwartz, Michael D Saxe, Thomas S Kilduff
STUDY OBJECTIVES: Although recent innovations have enabled modification of the rat genome, it is unclear whether enhanced utility of rodents as human disease models will result. We compared EEG and behavioral phenotypes of rats and mice with homozygous deletion of Cntnap2, a gene associated with cortical dysplasia-focal epilepsy (CDFE) and autism spectrum disorders (ASD). METHODS: Male Cntnap2 knockout (KO) and wild-type (WT) rats and male Cntnap2 KO and WT mice were implanted with telemeters to record EEG, EMG, body temperature and locomotor activity...
September 26, 2016: Sleep
Tally Lerman-Sagie, Zvi Leibovitz
Abnormal fetal corticogenesis results in malformations of cortical development (MCD). Abnormal cell proliferation leads to microcephaly or megalencephaly, incomplete neuronal migration results in heterotopia and lissencephaly, neuronal overmigration manifests as cobblestone malformations, and anomalous postmigrational cortical organization is responsible for polymicrogyria and focal cortical dysplasias. MCD comprises various congenital brain disorders, caused by different genetic, infectious, or vascular etiologies and is associated with significant neurological morbidity...
September 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
Muhammad T Khan, Roger Oghlakian, Mohamad Z Koubeissi
Determining the language-dominant hemisphere is essential for planning epilepsy surgery. A 60-year-old right-handed woman with epilepsy since age 16 failed a partial right anterior lobectomy at age 21. Later, a brain MRI found extensive right-sided cortical dysplasia and periventricular heterotopia. Subsequently, prolonged video-EEG monitoring localized her seizures to the right temporoparietal region. Functional MRI was inconclusive in lateralizing her language, prompting a Wada test, which strongly lateralized language to the right...
2016: Epilepsy & Behavior Case Reports
S Boronat, M Vicente, E Lainez, A Sánchez-Montañez, E Vázquez, L Mangado, L Martínez-Ribot, M Del Campo
Fetal alcohol spectrum disorders (FASD) cause neurodevelopmental abnormalities. However, publications about epilepsy and electroencephalographic features are scarce. In this study, we prospectively performed electroencephalography (EEG) and brain magnetic resonance (MR) imaging in 61 patients with diagnosis of FASD. One patient had multiple febrile seizures with normal EEGs. Fourteen children showed EEG anomalies, including slow background activity and interictal epileptiform discharges, focal and/or generalized, and 3 of them had epilepsy...
September 13, 2016: European Journal of Medical Genetics
Bo Jin, Jing Wang, Jian Zhou, Shuang Wang, Yuguang Guan, Shuhua Chen
This study aimed to determine the long-term surgical outcome of pharmacoresistant epilepsy caused by focal cortical dysplasia (FCD) and to identify the important predictors of the favorable surgical outcome. The study retrospectively analyzed the data of pharmacoresistant epilepsy patients with histologically proven FCD in our epilepsy center from May 2010 to December 2014. It included 120 patients with a mean follow-up of 34.6 months. Survival analysis and multivariate regression with Cox proportional hazards model were used to evaluate the rate, stability, and predictors of seizure freedom...
September 8, 2016: Journal of Neurology
Frédéric Racicot, Sami Obaid, Alain Bouthillier, Laurent Guillon-Létourneau, Jean-François Clément, Dang Khoa Nguyen
We report the case of a 23-year-old left-handed woman with medically intractable praxis-induced reflex seizures mainly precipitated by writing. Selective resection of subtle end-of-sulcus cortical dysplasia in the right inferior parietal lobule resulted in freedom from seizures. To the best of our knowledge, this is the first case of praxis-induced reflex seizures mainly precipitated by writing in which a focal lesion was found and treated successfully by surgery.
2016: Epilepsy & Behavior Case Reports
Masaki Iwasaki, Kazutaka Jin, Nobukazu Nakasato, Teiji Tominaga
Epilepsy surgery is aimed to remove the brain tissues that are indispensable for generating patient's epileptic seizures. There are two purposes in the pre-operative evaluation: localization of the epileptogenic zone and localization of function. Surgery is planned to remove possible epileptogenic zone while preserving functional area. Since no single diagnostic modality is superior to others in identifying and localizing the epileptogenic zone, multiple non-invasive evaluations are performed to estimate the location of the epileptogenic zone after concordance between evaluations...
October 15, 2016: Neurologia Medico-chirurgica
Thao M Nguyen, Agnieszka Arthur, Sharon Paton, Sarah Hemming, Romana Panagopoulos, John Codrington, Carl R Walkley, Andrew C W Zannettino, Stan Gronthos
The EphB receptor tyrosine kinase family and their ephrinB ligands have been implicated as mediators of skeletal development and bone homeostasis in humans, where mutations in ephrinB1 contribute to frontonasal dysplasia and coronal craniosynostosis. In mouse models, ephrinB1 has been shown to be a critical factor mediating osteoblast function. The present study examined the functional importance of ephrinB1 during endochondral ossification using the Cre recombination system with targeted deletion of ephrinB1 (EfnB1(fl/fl)) in osteogenic progenitor cells, under the control of the osterix (Osx:Cre) promoter...
September 10, 2016: Bone
Maura E Ryan
Investigators from the Mayo Clinic, Rochester Minnesota investigated the utility of three-dimensional (3D) double inversion recovery (DIR) sequences in magnetic resonance imaging (MRI) detection of focal cortical dysplasia (FCD) in children and young adults with epilepsy.
April 2016: Pediatric neurology briefs
Richard A Prayson
OBJECTIVES: Hyaline protoplasmic astrocytopathy is a rare condition marked by the accumulation of various proteins in the cytoplasm of protoplasmic astrocytes. METHODS: This study retrospectively reviews the clinicopathologic features of 14 patients (nine females; mean age, 9.1 years) with hyaline protoplasmic astrocytopathy. RESULTS: Patients had chronic seizures (mean duration, 101.1 months); mean age at seizure onset was 6.9 months. Three patients had Aicardi syndrome, and one patient had tuberous sclerosis...
October 2016: American Journal of Clinical Pathology
Anne Bruun Krøigård, Morten Frost, Martin Jakob Larsen, Lilian Bomme Ousager, Anja Lisbeth Frederiksen
Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1), or Taybi-Linder syndrome is characterized by distinctive skeletal dysplasia, severe intrauterine and postnatal growth retardation, microcephaly, dysmorphic features, and neurological malformations. It is an autosomal recessive disorder caused by homozygous or compound heterozygous mutations in the RNU4ATAC gene resulting in impaired function of the minor spliceosome. Here, we present the first report on bone morphology, bone density and bone microstructure in two adult MOPD1 patients and applied radiographs, dual energy X-ray absorptiometry, high-resolution peripheral quantitative computed tomography and biochemical evaluation...
November 2016: Bone
Eric Hohn, Nirav K Pandya
BACKGROUND: Medial patellofemoral ligament (MPFL) reconstruction is one of several surgical procedures used to treat patellofemoral instability. Use of allograft tissue can preserve autogenous tissue and may be preferable in patients with connective tissue disorders or ligamentous laxity. Although there are successful reports in adults, it is unclear if the use of allograft tissue in MPFL reconstruction can restore patellofemoral stability in children and adolescents. QUESTIONS/PURPOSES: (1) Does allograft tissue in MPFL reconstruction in pediatric and adolescent patients restore patellar stability? (2) What complications were associated with allograft MPFL reconstructions in children and adolescents? METHODS: Between June 2012 and August 2015, one surgeon (NKP) performed 26 MPFL reconstructions in 23 patients with gracilis allograft for traumatic patellar instability...
September 2, 2016: Clinical Orthopaedics and related Research
Zhendong Zhang, Qi Zhuo, Wei Chai, Ming Ni, Heng Li, Jiying Chen
Periprosthetic femoral fracture (PFF) is a complicated complication of both primary and revision hip arthroplasty with an increasing incidence. The present study aimed to summarize the clinical characteristics and identify the risk factors for PFF which would be potentially helpful in the prevention and treatment of PFF.We retrospectively analyzed the clinical data of 89 cases of PFF, and a case-control study was designed to identify the potential risk for intraoperative and postoperative PFF in both primary and revision hip arthroplasty...
August 2016: Medicine (Baltimore)
Jong Woo Lee
No abstract text is available yet for this article.
July 2016: Epilepsy Currents
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