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Mai-Lan Ho
Arterial spin labeling (ASL) is a magnetic resonance imaging perfusion technique that enables quantification of cerebral blood flow (CBF) without the use of intravenous gadolinium contrast. An understanding of the technical basis of ASL and physiologic variations in perfusion are important for recognizing normal variants and artifacts. Pathologic variations in perfusion can be seen in a number of disorders including acute and chronic ischemia, vasculopathy, vascular malformations, tumors, trauma, infection/inflammation, epilepsy, and dementia...
July 14, 2018: Journal of Neuroradiology. Journal de Neuroradiologie
Kuo Xiao, Zhiming Sun, Xueqin Jin, Weining Ma, Yan Song, Shirong Lai, Qian Chen, Minghua Fan, Jingliang Zhang, Weihua Yue, Zhuo Huang
KEY POINTS: ERG3 channels have a high expression level in central nervous system. Knockdown of ERG3 channels enhances neuronal intrinsic excitability (caused by decreased fast afterhyperpolarization, shortened delay time to the generation of an action potential and enhanced summation of somatic excitatory post-synaptic potentials) in hippocampal CA1 pyramidal neurons and DG granule cells. The expression of ERG3 protein is reduced in human and mouse hippocampal epileptogenic foci. Knockdown of ERG3 channels in hippocampus enhanced seizure susceptibility, while mice treated with ERG channel activator NS-1643 were less prone to epileptogenesis...
July 17, 2018: Journal of Physiology
Sorin Ioacara, Elisabeta Sava, Alexandra Barosan, Florentina Cojocaru, Adelina Gutan, Simona Fica
Background Neonatal diabetes mellitus (NDM) is defined as a monogenic form of diabetes that occurs in the first 6 months of life. As information on diet in NDM patients successfully treated with sulfonylurea is not yet available, we aimed to investigate the hypothesis that a carb-restricted diet is not needed in such cases. Case presentation In this case report, we present a successful implementation of a completely liberalized diet in a young patient with NDM, developmental delay and epilepsy (DEND syndrome), who was also switched to sulfonylurea treatment...
July 17, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Colin T Kyle, Michele R Permenter, Julie A Vogt, Peter R Rapp, Carol A Barnes
BACKGROUND: Ensemble recording methods are pervasive in basic and clinical neuroscience research. Invasive neural implants are used in patients with drug resistant epilepsy to localize seizure origin, in neuropsychiatric or Parkinson's patients to alleviate symptoms via deep brain stimulation, and with animal models to conduct basic research. Studies addressing the brain's physiological response to chronic electrode implants demonstrate that the mechanical trauma of insertion is followed by an acute inflammatory response as well as a chronic foreign body response...
July 17, 2018: Neuromodulation: Journal of the International Neuromodulation Society
David A Kahn
In this issue of the journal, 2 case reports are presented that illustrate explicit influences of structural brain lesions on psychiatric symptoms. In both cases, the patients had preexisting, classically diagnosed psychiatric disorders-schizophrenia in the first case and bipolar I disorder in the second case. In the first case, a 61-year-old woman with chronic paranoid schizophrenia experienced a marked reduction in psychotic symptoms after bilateral frontal strokes. In the second case, a 60-year-old man who had experienced manic and depressive episodes since his 20s developed partial complex seizures after having repeated head trauma in his 40s, with subsequent onset of chronic personality changes associated with temporal lobe epilepsy that made his psychiatric treatment a greater challenge...
May 2018: Journal of Psychiatric Practice
Jennifer L Yehl, Cory M Klippel, Alfred T Frontera, F Andrew Kozel
Bipolar I disorder and interictal personality syndrome have many overlapping characteristics that are difficult to distinguish. There is scant literature focused on interictal personality syndrome and no case reports to date detailing patients with comorbid bipolar pathology. We describe an individual with a history of bipolar I disorder who developed right temporal lobe epilepsy after several head injuries. He subsequently exhibited symptoms consistent with interictal personality syndrome that were independent of his bipolar symptomatology...
May 2018: Journal of Psychiatric Practice
Peter Mazonson, Mark Kane, Kelin Colberg, Heather Harris, Heather Brown, Andrew Mohr, Chris Santas, Adrian Sandler
BACKGROUND: Although cord blood (CB) stem cell research is being conducted for treatment of cerebral palsy (CP), little is known about children with CP and stored CB. AIMS: To compare demographic and clinical characteristics of children with CP and stored CB to children with CP identified in a population-based study. METHODS AND PROCEDURES: The Longitudinal Umbilical Stem cell monitoring and Treatment REsearch (LUSTRE®) Registry recruited children from the largest US private CB bank...
July 12, 2018: Research in Developmental Disabilities
Juliana A Alcantara, Silvia Vincentiis, Bernardo Santos, Daniel Kerr, Vanessa de Paula, Ruda Alessi, Helio Linden, Tiffany Chaim, Maurício Serpa, Geraldo Busatto, Wagner Gattaz, Kette D Valente
PURPOSE: Some variants of the brain derived neurotrophic factors (BDNF) gene, namely the Val66Met (rs6265), may contribute the risk for epilepsy development. We aimed to investigate if this polymorphism was associated with the risk for epilepsy development in TLE-HS and its correlation with epilepsy-related factors and the presence of psychiatric disorders. METHODS: We assessed 119 patients with unequivocal TLE-HS and 112 healthy controls. Individuals were genotyped for the polymorphisms of the gene encoding BDNF Val66Met...
July 7, 2018: Seizure: the Journal of the British Epilepsy Association
Afnan AlGhamdi, Muhammad Talal Alrifai, Abdullah I Al Hammad, Fuad Al Mutairi, Abdulrahman Alswaid, Wafaa Eyaid, Majid Alfadhel
Propionic acidemia is an inborn error of metabolism that is inherited in an autosomal recessive manner. It is characterized by a deficient propionyl-CoA carboxylase due to mutations in either of its beta or alpha subunits. In the literature, there is a clear association between propionic acidemia and epilepsy. In this cohort, we retrospectively reviewed the data of 14 propionic acidemia patients in Saudi Arabia and compared the findings to those of former studies. Six of the 14 (43%) patients developed epileptic seizure, mainly focal seizures...
January 1, 2018: Journal of Child Neurology
Arndt-Hendrik Schievelkamp, Alina Jurcoane, Theodor Rüber, Leon Ernst, Andreas Müller, Burkhard Mädler, Hans Heinz Schild, Elke Hattingen
PURPOSE: Limbic encephalitis (LE) is an immune-related disease with limbic symptoms, variable and asymmetric magnetic resonance imaging (MRI) aspects and antibody profiles. This study investigated the diagnostic value of quantitative relaxation times T2 (qT2) and MRI signal intensities (SI) in LE. METHODS: The prospective 3T-MRI study included 39 epilepsy patients with initially suspected LE and 20 healthy controls. Values and asymmetry indices of qT2, T2-weighted (T2-w) and proton density (PD)-w SI of manually delineated and automatically segmented amygdala and hippocampus were measured...
July 16, 2018: Clinical Neuroradiology
Lilia Zaporojan, Patricia H McNamara, Jennifer A Williams, Colm Bergin, Janice Redmond, Colin P Doherty
Purpose: This study aimed to determine the rate, cause and management of seizures in the context of potential ART-ASD interactions in a cohort of HIV + individuals. Methods: Records of 604 HIV + patients were reviewed and those reporting epilepsy/seizure diagnosis were further evaluated. Results: This cohort exhibited a seizure rate of 2.4%. HIV + patients treated for epilepsy displayed low serum ASD levels and failed to achieve seizure control...
2018: Epilepsy & Behavior Case Reports
Nilika S Singhal, Adam L Numis, Morgan B Lee, Edward F Chang, Joseph E Sullivan, Kurtis I Auguste, Vikram R Rao
Responsive neurostimulation for epilepsy involves an implanted device that delivers direct electrical brain stimulation in response to detection of incipient seizures. Responsive neurostimulation is a safe and effective treatment for adults with drug-resistant epilepsy, but although novel treatments are critically needed for younger patients, responsive neurostimulation is currently not approved for children with drug-resistant epilepsy. Here, we report a 16-year-old patient with seizures arising from eloquent cortex, who was successfully treated with responsive neurostimulation...
2018: Epilepsy & Behavior Case Reports
Yi-He Wang, Yang An, Xiao-Tong Fan, Jie Lu, Lian-Kun Ren, Peng-Hu Wei, Bi-Xiao Cui, Jia-Lin Du, Chao Lu, Di Wang, Hua-Qiang Zhang, Yong-Zhi Shan, Guo-Guang Zhao
Objective: In the detection of seizure onset zones, arterial spin labeling (ASL) can overcome the limitations of positron emission tomography (PET) with 18 F-fluorodeoxyglucose (18 F-FDG), which is invasive, expensive, and radioactive. PET/magnetic resonance (MR) systems have been introduced that allow simultaneous performance of ASL and PET, but comparisons of these techniques with stereoelectroencephalography (SEEG) and comparisons among the treatment outcomes of these techniques are still lacking...
2018: NeuroImage: Clinical
Rigil K Yeung, Zheng-Hua Xiang, Shui-Ying Tsang, Rui Li, Timothy Y C Ho, Qi Li, Chok-King Hui, Pak-Chung Sham, Ming-Qi Qiao, Hong Xue
Intronic polymorphisms of the GABAA receptor β2 subunit gene (GABRB2) under adaptive evolution were associated with schizophrenia and reduced expression, especially of the long isoform which differs in electrophysiological properties from the short isoform. The present study was directed to examining the gene dosage effects of Gabrb2 in knockout mice of both heterozygous (HT) and homozygous (KO) genotypes with respect to possible schizophrenia-like and comorbid phenotypes. The KO mice, and HT mice to a lesser extent, were found to display prepulse inhibition (PPI) deficit, locomotor hyperactivity, stereotypy, sociability impairments, spatial-working and spatial-reference memory deficits, reduced depression and anxiety, and accelerated pentylenetetrazol (PTZ)-induced seizure...
July 17, 2018: Translational Psychiatry
Lucas V Alves, Camila E Paredes, Germanna C Silva, Júlia G Mello, João G Alves
OBJECTIVE: To describe the neurodevelopment of children with congenital Zika syndrome during the second year of life. DESIGN: Case series study. SETTING: Instituto de Medicina Integral Professor Fernando Figueira (IMIP), Pernambuco, Brazil. PARTICIPANTS: 24 children with congenital Zika syndrome born with microcephaly during the Zika outbreak in Brazil in 2015 and followed up at the IMIP during their second year of life...
July 16, 2018: BMJ Open
Yin Liu, David Michelson, Robin Clark, June-Anne Gold
OBJECTIVE: Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder with a variable phenotype. METHODS: We report 2 full siblings, a brother and sister, with a unique familial 2.4 Mb microdeletion at 14q13.1-14q13.3 by microarray (first identified in the brother, Mayo Clinical Laboratories, 2010). RESULTS: Both children presented with infantile spasms that evolved to intractable epilepsy and profound developmental delay...
July 17, 2018: Neurology
Claudia V Pereira, Sandra R Bacman, Tania Arguello, Ugne Zekonyte, Sion L Williams, David R Edgell, Carlos T Moraes
Pathogenic mitochondrial DNA (mtDNA) mutations often co-exist with wild-type molecules (mtDNA heteroplasmy). Phenotypes manifest when the percentage of mutant mtDNA is high (70-90%). Previously, our laboratory showed that mitochondria-targeted transcription activator-like effector nucleases (mitoTALENs) can eliminate mutant mtDNA from heteroplasmic cells. However, mitoTALENs are dimeric and relatively large, making it difficult to package their coding genes into viral vectors, limiting their clinical application...
July 16, 2018: EMBO Molecular Medicine
Amy M L Quek, Orna O'Toole
Autoimmune epilepsy is increasingly recognized as a distinct clinical entity, driven in large part by the recent discovery of neural autoantibodies in patients with isolated or predominant epilepsy presentations. Detection of neural autoantibodies in high-risk epilepsy patients supports an immune-mediated cause of seizures and, if applicable, directs the search for an underlying cancer when the paraneoplastic association of the associated antibody is compelling. Early diagnosis of autoimmune epilepsy is crucial, as prompt initiation of immunosuppressive treatment increases the likelihood of achieving either seizure freedom or a substantial reduction in seizure frequency...
June 2018: Seminars in Neurology
Thouraya Ben Younes, Hanene Benrhouma, Hedia Klaa, Aida Rouissi, Myriam Chaabouni, Ichraf Kraoua, Ilhem Ben Youssef-Turki
ATP1A3 mutations have now been recognized in infants, children, and adults presenting with a diverse group of neurological phenotypes, including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood, and most recently, cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss syndrome. The phenotypic spectrum of ATP1A3 -related neurological disorders continues to expand. In this case study, we report on early life epilepsy with episodic apnea potentially secondary to ATP1A3 mutation in a Tunisian child...
July 16, 2018: Neuropediatrics
Archana Verma, Kiran K, Alok Kumar
AIM: This study was aimed to assess belief in medication and non adherence to antiepileptic drugs (AEDs) in people with epilepsy (PWE) from rural India. And furthermore to study the demographic and seizure attributes influencing the adherence. METHOD: Present cross-sectional study included two hundred and thirty adult PWE. Adherence level was assessed by using validated Morisky-Green Test and patient's beliefs towards usage of AEDs by utilizing Beliefs about Medicine Questionnaire (BMQ)...
July 16, 2018: International Journal of Neuroscience
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