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https://www.readbyqxmd.com/read/27935818/prenatal-ethanol-exposure-phenocopies-cdon-mutation-by-impeding-shh-function-in-the-etiology-of-optic-nerve-hypoplasia
#1
Benjamin M Kahn, Tanya S Corman, Korah Lovelace, Mingi Hong, Robert S Krauss, Douglas J Epstein
Septo-optic dysplasia (SOD) is a congenital disorder characterized by optic nerve, pituitary and midline brain malformations. The clinical presentation of SOD is highly variable with a poorly understood etiology. The majority of SOD cases are sporadic, but in rare instances inherited mutations have been identified in a small number of transcription factors, some of which regulate the expression of Sonic hedgehog (Shh) during mouse forebrain development. SOD is also associated with young maternal age suggesting that environmental factors, including alcohol consumption at early stages of pregnancy, may increase the risk of developing this condition...
November 24, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/27933364/behavioral-alterations-of-zebrafish-larvae-after-early-embryonic-exposure-to-ketamine
#2
Luís M Félix, Luís M Antunes, Ana M Coimbra, Ana M Valentim
RATIONALE: Ketamine has been associated with pediatric risks that include neurocognitive impairment and long-term behavioral disorders. However, the neurobehavioral effects of ketamine exposure in early development remain uncertain. OBJECTIVES: This study aimed to test stage- and dose-dependent effects of ketamine exposure on certain brain functions by evaluating alterations in locomotion, anxiety-like and avoidance behaviors, as well as socialization. METHODS: Embryos were exposed to different concentrations of ketamine (0, 0...
December 8, 2016: Psychopharmacology
https://www.readbyqxmd.com/read/27920266/variability-of-ponto-cerebellar-fibers-by-diffusion-tensor-imaging-in-diverse-brain-malformations
#3
Nancy K Rollins, Timothy N Booth, Maria H Chahrour
To describe pontine axonal anomalies across diverse brain malformations. Institutional review board-approved review of magnetic resonance imaging (MRI) and genetic testing of 31 children with brain malformations and abnormal pons by diffusion tensor imaging. Anomalous dorsal pontocerebellar tracts were seen in mid-hindbrain anomalies and in diffuse malformations of cortical development including lissencephaly, gyral disorganization with dysplastic basal ganglia, presumed congenital fibrosis of extraocular muscles type 3, and in callosal agenesis without malformations of cortical development...
December 5, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27919468/somatic-gnaq-mutation-is-enriched-in-brain-endothelial-cells-in%C3%A2-sturge-weber-syndrome
#4
Lan Huang, Javier A Couto, Anna Pinto, Sanda Alexandrescu, Joseph R Madsen, Arin K Greene, Mustafa Sahin, Joyce Bischoff
BACKGROUND: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial and extracraniofacial capillary malformations and capillary-venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c.548G>A; p.R183Q) was found in SWS brain and skin capillary malformations. Our laboratory showed endothelial cells in skin capillary malformations are enriched for the GNAQ mutation. The purpose of this study is to determine whether the GNAQ mutation is also enriched in endothelial cells in affected SWS brain...
October 21, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27915340/2q33-1q34-deletion-in-a-girl-with-brain-anomalies-and-anorectal-malformation
#5
Luisa Ronzoni, Antonio Novelli, Giulia Brisighelli, Angela Peron, Fabio Triulzi, Vera Bianchi, Ernesto Leva, Maria F Bedeschi
2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial appearance, thin and sparse hair, tooth abnormalities, and skeletal anomalies. Here, we report on a patient with a 2q33.1q34 deletion spanning 8.3 Mb of genomic DNA. Although her clinical features are very reminiscent of the 2q33 microdeletion syndrome, she also presented with brain and anorectal malformations...
December 3, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27915116/7t-mr-of-intracranial-pathology-preliminary-observations-and-comparisons-to-3t-and-1-5t
#6
Emmanuel C Obusez, Mark Lowe, Se-Hong Oh, Irene Wang, M S Jennifer Bullen, Paul Ruggieri, Virginia Hill, Daniel Lockwood, Todd Emch, Doksu Moon, Gareth Loy, Jonathan Lee, Matthew Kiczek, D O Manoj Massand, Volodymyr Statsevych, Todd Stultz, Stephen E Jones
PURPOSE: There have been an increasing number of studies involving ultra-high-field 7T of intracranial pathology, however, comprehensive clinical studies of neuropathology at 7T still remain limited. 7T has the advantage of a higher signal-to-noise ratio and a higher contrast-to-noise ratio, compared to current low field clinical MR scanners. We hypothesized 7T applied clinically, may improve detection and characterization of intracranial pathology. MATERIALS AND METHODS: We performed an IRB-approved 7T prospective study of patients with neurological disease who previously had lower field 3T and 1...
November 30, 2016: NeuroImage
https://www.readbyqxmd.com/read/27913800/the-transvenous-pressure-cooker-technique-a-treatment-for-brain-arteriovenous-malformations
#7
Guang Zhang, Shiyi Zhu, Pei Wu, Shancai Xu, Huaizhang Shi
The treatment of brain arteriovenous malformations (AVMs) remains a significant challenge, especially hemorrhagic AVMs which are unsuitable for microsurgery or radiosurgery. We demonstrate an AVM located in the left basal ganglia area, supplied by slender arteries, and treated by the transvenous pressure cooker technique. Herein, we describe the procedure and outline the crucial points and indications for this technique.
December 2, 2016: Interventional Neuroradiology
https://www.readbyqxmd.com/read/27912790/fetal-malformation-in-maternal-toxoplasma-and-rubella-co-infection-in-cameroon-a-case-report
#8
Andreas Ateke Njoh, Sarah Namondo Njoh, Messang Blandine Abizou
BACKGROUND: There has been a recent increase in the number of newborns with brain malformations due to congenital infections, but the impact of these diseases remains largely under ascertained in middle-income and low-income countries. This case report presents a fetal anencephaly following maternal toxoplasma and rubella co-infection in a resource-limited setting and the challenges faced by the patient and the health care provider in the management of the condition. CASE PRESENTATION: A 25-year-old black Cameroonian woman of Bakossi origin, gravida3 para1010, presented with a positive rubella and toxoplasma immunoglobulin G serologic test at 21 weeks of pregnancy; she could not benefit from a fetal morphologic ultrasound partly because there was none at the site of her antenatal clinic and because there were accessibility constraints getting to the nearest referral hospital approximately 100 km away...
December 3, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27911741/neural-stem-cells-to-cerebral-cortex-emerging-mechanisms-regulating-progenitor-behavior-and-productivity
#9
Noelle D Dwyer, Bin Chen, Shen-Ju Chou, Simon Hippenmeyer, Laurent Nguyen, H Troy Ghashghaei
This review accompanies a 2016 SFN mini-symposium presenting examples of current studies that address a central question: How do neural stem cells (NSCs) divide in different ways to produce heterogeneous daughter types at the right time and in proper numbers to build a cerebral cortex with the appropriate size and structure? We will focus on four aspects of corticogenesis: cytokinesis events that follow apical mitoses of NSCs; coordinating abscission with delamination from the apical membrane; timing of neurogenesis and its indirect regulation through emergence of intermediate progenitors; and capacity of single NSCs to generate the correct number and laminar fate of cortical neurons...
November 9, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27911366/a-multimodal-imaging-and-stimulation-based-method-of-evaluating-connectivity-related-brain-excitability-in-patients-with-epilepsy
#10
Mouhsin M Shafi, Susan Whitfield-Gabrieli, Catherine J Chu, Alvaro Pascual-Leone, Bernard S Chang
Resting-state functional connectivity MRI (rs-fcMRI) is a technique that identifies connectivity between different brain regions based on correlations over time in the blood-oxygenation level dependent signal. rs-fcMRI has been applied extensively to identify abnormalities in brain connectivity in different neurologic and psychiatric diseases. However, the relationship among rs-fcMRI connectivity abnormalities, brain electrophysiology and disease state is unknown, in part because the causal significance of alterations in functional connectivity in disease pathophysiology has not been established...
November 13, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/27911249/international-multicenter-cohort-study-of-pediatric-brain-arteriovenous-malformations-part-2-outcomes-after-stereotactic-radiosurgery
#11
Robert M Starke, Dale Ding, Hideyuki Kano, David Mathieu, Paul P Huang, Caleb Feliciano, Rafael Rodriguez-Mercado, Luis Almodovar, Inga S Grills, Danilo Silva, Mahmoud Abbassy, Symeon Missios, Douglas Kondziolka, Gene H Barnett, L Dade Lunsford, Jason P Sheehan
OBJECTIVE Pediatric patients (age < 18 years) harboring brain arteriovenous malformations (AVMs) are burdened with a considerably higher cumulative lifetime risk of hemorrhage than adults. Additionally, the pediatric population was excluded from recent prospective comparisons of intervention versus conservative management for unruptured AVMs. The aims of this multicenter, retrospective cohort study are to analyze the outcomes after stereotactic radiosurgery for unruptured and ruptured pediatric AVMs. METHODS We analyzed and pooled AVM radiosurgery data from 7 participating in the International Gamma Knife Research Foundation...
December 2, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27911248/international-multicenter-cohort-study-of-pediatric-brain-arteriovenous-malformations-part-1-predictors-of-hemorrhagic-presentation
#12
Dale Ding, Robert M Starke, Hideyuki Kano, David Mathieu, Paul P Huang, Caleb Feliciano, Rafael Rodriguez-Mercado, Luis Almodovar, Inga S Grills, Danilo Silva, Mahmoud Abbassy, Symeon Missios, Douglas Kondziolka, Gene H Barnett, L Dade Lunsford, Jason P Sheehan
OBJECTIVE Brain arteriovenous malformations (AVMs) are the most common cause of spontaneous intracranial hemorrhage in pediatric patients (age < 18 years). Since the cumulative lifetime risk of AVM hemorrhage is considerable in children, an improved understanding of the risk factors influencing hemorrhagic presentation may aid in the management of pediatric AVMs. The aims of this first of a 2-part multicenter, retrospective cohort study are to evaluate the incidence and determine the predictors of hemorrhagic presentation in pediatric AVM patients...
December 2, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27911246/role-of-follow-up-imaging-after-resection-of-brain-arteriovenous-malformations-in-pediatric-patients-a-systematic-review-of-the-literature
#13
Joaquin E Jimenez, Zachary C Gersey, Jason Wagner, Brian Snelling, Sudheer Ambekar, Eric C Peterson
OBJECTIVE Pediatric patients are at risk for the recurrence of brain arteriovenous malformation (AVM) after resection. While there is general consensus on the importance of follow-up after surgical removal of an AVM, there is a lack of consistency in the duration of that follow-up. The object of this systematic review was to examine the role of follow-up imaging in detecting AVM recurrence early and preventing AVM rupture. METHODS This systematic review was performed using articles obtained through a search of the literature contained in the MeSH database, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines...
December 2, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27909566/prenatal-diagnosis-of-a-terminal-chromosome-1-q42-q44-deletion-original-case-report-and-review-of-the-literature
#14
C Van Linthout, V Emonard, J S Gatot, X Capelle, F Kridelka, P Emonts, M C Segghaye
Terminal chromosome 1q deletion is rarely reported but causes typical malformations that have been well described in childhood. Clinical features include facial dysmorphy, growth and/or psychomotor retardation, brain agenesis or hypoplasia of the corpus callosum, epilepsy and occasional urogenital or cardiac malformations. The diagnosis of this condition is usually made at birth. The rare cases of antenatal diagnosis were based on microcephaly and growth retardation. In the present case, the foetus presented with an hypoplasia of the corpus callosum, a dysmorphic profile and a single umbilical artery...
June 27, 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/27907955/decompressive-craniectomy-in-neurocritical-care
#15
Erik G Hayman, David B Kurland, Zachary Grunwald, Sebastian Urday, Kevin N Sheth, J Marc Simard
Neurosurgeons increasingly use decompressive craniectomy (DC) in neurocritical care. In this review, the authors summarize the topic of DC for the neurointensivist. Following a brief overview of the procedure, the major indications for the procedure are described. This includes a review of the literature regarding well-established indications, such as infarction and traumatic brain injury, as well as lesser known indications, including intracerebral hemorrhage, ruptured cerebrovascular malformations, sinus thrombosis, and infection...
December 2016: Seminars in Neurology
https://www.readbyqxmd.com/read/27906905/description-of-13-infants-born-during-october-2015-january-2016-with-congenital-zika-virus-infection-without-microcephaly-at-birth-brazil
#16
Vanessa van der Linden, André Pessoa, William Dobyns, A James Barkovich, Hélio van der Linden Júnior, Epitacio Leite Rolim Filho, Erlane Marques Ribeiro, Mariana de Carvalho Leal, Pablo Picasso de Araújo Coimbra, Maria de Fátima Viana Vasco Aragão, Islane Verçosa, Camila Ventura, Regina Coeli Ramos, Danielle Di Cavalcanti Sousa Cruz, Marli Tenório Cordeiro, Vivian Maria Ribeiro Mota, Mary Dott, Christina Hillard, Cynthia A Moore
Congenital Zika virus infection can cause microcephaly and severe brain abnormalities (1). Congenital Zika syndrome comprises a spectrum of clinical features (2); however, as is the case with most newly recognized teratogens, the earliest documented clinical presentation is expected to be the most severe. Initial descriptions of the effects of in utero Zika virus infection centered prominently on the finding of congenital microcephaly (3). To assess the possibility of clinical presentations that do not include congenital microcephaly, a retrospective assessment of 13 infants from the Brazilian states of Pernambuco and Ceará with normal head size at birth and laboratory evidence of congenital Zika virus infection was conducted...
December 2, 2016: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/27903925/onyx-extravasation-during-embolization-of-a-brain-arteriovenous-malformation
#17
Hiroyuki Ikeda, Hirotoshi Imamura, Yuji Agawa, Yukihiro Imai, Shoichi Tani, Hidemitsu Adachi, Tatsuya Ishikawa, Yohei Mineharu, Nobuyuki Sakai
During Onyx embolization to treat brain arteriovenous malformation (AVM), carefully observing the penetration of Onyx to the nidus is important in order to avoid complications such as hemorrhage, ischemia, and difficulty with microcatheter removal. We encountered a case of Onyx extravasation during embolization of a cerebellar AVM confirmed by surgical resection and pathological analysis. The patient was a 44-year-old man with Spetzler-Martin grade I cerebellar AVM who underwent Onyx embolization prior to resection of the brain AVM...
November 30, 2016: Interventional Neuroradiology
https://www.readbyqxmd.com/read/27900505/subsequent-haemorrhage-in-children-with-untreated-brain-arteriovenous-malformation-higher-risk-with-unbalanced-inflow-and-outflow-angioarchitecture
#18
Li Ma, Xiao-Lin Chen, Yu Chen, Chun-Xue Wu, Jun Ma, Yuan-Li Zhao
OBJECTIVES: Children with brain arteriovenous malformations (bAVMs) are at risk of life-threatening haemorrhage in their early lives. Our aim was to analyse various angioarchitectural features of bAVM to predict the risk of subsequent haemorrhage during follow-up in children. METHODS: We identified all consecutive children admitted to our institution for bAVMs between July 2009 and September 2015. Children with at least 1 month of treatment-free follow-up after diagnosis were included in further analysis...
November 29, 2016: European Radiology
https://www.readbyqxmd.com/read/27899758/estimating-the-risks-of-adverse-radiation-effects-after-gamma-knife-radiosurgery-for-arteriovenous-malformations
#19
Hideyuki Kano, John C Flickinger, Daniel Tonetti, Alan Hsu, Huai-Che Yang, Thomas J Flannery, Ajay Niranjan, L Dade Lunsford
BACKGROUND AND PURPOSE: We evaluated risk factors associated with the development of adverse radiation effects (ARE) after stereotactic radiosurgery (SRS) for cerebral arteriovenous malformations (AVMs). METHODS: We evaluated 755 patients with AVM who underwent a single Gamma Knife SRS procedure with at least a 2-year minimum follow-up. Eighty-seven patients (12%) underwent previous resection and 128 (17%) had previous embolization. The median target volume was 3...
November 29, 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27894886/utility-of-urgent-computed-tomography-angiography-in-the-setting-of-intraparenchymal-brain-hemorrhage
#20
Omran Kaskar, Larry B Goldstein
BACKGROUND AND PURPOSE: Patients presenting with an intracerebral hemorrhage (ICH) generally have an initial noncontrast computed tomography (NCCT) of the brain. Computed tomography angiography (CTA) can help identify secondary causes of ICH and detect a "spot sign." We hypothesized that performing an urgent CTA in the setting of a presumed primary ICH has only limited utility and did not alter urgent management. METHODS: This was a retrospective study of consecutive patients presenting with a primary ICH identified from the Duke University Stroke Registry from 2010 to 2013 who had an ICH detected on an initial NCCT...
November 25, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
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