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https://www.readbyqxmd.com/read/28212403/cerebrospinal-fluid-biomarkers-of-infantile-congenital-hydrocephalus
#1
David D Limbrick, Brandon Baksh, Clinton D Morgan, Gakwaya Habiyaremye, James P McAllister, Terrie E Inder, Deanna Mercer, David M Holtzman, Jennifer Strahle, Michael J Wallendorf, Diego M Morales
INTRODUCTION: Hydrocephalus is a complex neurological disorder with a pervasive impact on the central nervous system. Previous work has demonstrated derangements in the biochemical profile of cerebrospinal fluid (CSF) in hydrocephalus, particularly in infants and children, in whom neurodevelopment is progressing in parallel with concomitant neurological injury. The objective of this study was to examine the CSF of children with congenital hydrocephalus (CHC) to gain insight into the pathophysiology of hydrocephalus and identify candidate biomarkers of CHC with potential diagnostic and therapeutic value...
2017: PloS One
https://www.readbyqxmd.com/read/28212190/endothelial-cell-disease-emerging-knowledge-from-cerebral-cavernous-malformations
#2
Maria Grazia Lampugnani, Matteo Malinverno, Elisabetta Dejana
PURPOSE OF REVIEW: Endothelial cells dysfunctions are crucial determinants of several human diseases. We review here the most recent reports on endothelial cell defects in cerebral cavernous malformations (CCMs), particularly focusing on adherens junctions. CCM is a vascular disease that affects specifically the venous microvessels of the central nervous system and which is caused by loss-of-function mutation in any one of the three CCM genes (CCM1, 2 or 3) in endothelial cells. The phenotypic result of these mutations are focal vascular malformations that are permeable and fragile causing neurological symptoms and occasionally haemorrhagic stroke...
February 16, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28211984/prenatal-diagnosis-of-inverted-duplication-deletion-8p-syndrome-mimicking-trisomy-18
#3
Mehmet Ozgur Akkurt, Amanda Higgs, Ozerk T Turan, Ozhan M Turan, Sifa Turan
Inverted duplication deletion of 8p (invdupdel[8p]) is a well-described and uncommon chromosomal rearrangement. The majority of the reported cases have revealed no life-threatening malformations. Although the invdupdel[8p] syndrome in children with central nervous system abnormalities has been reported before, we present the first prenatal microarray diagnosis of invdupdel[8p] syndrome mimicking trisomy 18 due to similar sonographic features. Contrary to reported cases with invdupdel[8p] syndrome, the present case had severe polyvalvular dysplasia and the infant deceased at day 12 of life...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28195514/blood-brain-barrier-on-a-chip-microphysiological-systems-that-capture-the-complexity-of-the-blood-central-nervous-system-interface
#4
Duc Tt Phan, R Hugh F Bender, Jillian W Andrejecsk, Agua Sobrino, Stephanie J Hachey, Steven C George, Christopher Cw Hughes
The blood-brain barrier is a dynamic and highly organized structure that strictly regulates the molecules allowed to cross the brain vasculature into the central nervous system. The blood-brain barrier pathology has been associated with a number of central nervous system diseases, including vascular malformations, stroke/vascular dementia, Alzheimer's disease, multiple sclerosis, and various neurological tumors including glioblastoma multiforme. There is a compelling need for representative models of this critical interface...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28157255/current-views-on-fetal-surgical-treatment-of-myelomeningocele-the-management-of-myelomeningocele-study-moms-trial-and-polish-clinical-experience
#5
Jacek Zamłyński, Ewa Horzelska, Mateusz Zamłyński, Katarzyna Olszak-Wąsik, Leszek Nowak, Piotr Bodzek, Tomasz Horzelski, Rafał Bablok, Anita Olejek
Myelomeningocele (MMC) is the most frequent congenital defect of the central nervous system for which there is no satisfactory alternative to postnatal treatment. On the contrary prenatal MMC surgery is conducting before birth and is aimed at protecting from Chiari II malformation. The main goal of fetal MMC repair is to improve development and life quality of children with Chiari II malformation. Management of Myelomeningocele Study (MOMS) which was published in 2011 clearly confirmed effectiveness of prenatal surgery...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28146192/-zika-virus-infection-in-pregnancy-fetal-and-neonatal-impact
#6
Wilfrido Coronell-Rodríguez, Cindy Arteta-Acosta, M Alejandra Suárez-Fuentes, M Cecilia Burgos-Rolon, M Teresa Rubio-Sotomayor, Michelle Sarmiento-Gutiérrez, Carlos Corzo-Díaz
Zika virus (ZV) is an arbovirus transmitted by Aedes aegypti and A. albopictus. The neurotropic profile of this virus is known since 1952. The main finding related to ZV in America is microcephaly. Two hypotheses are tested on its involvement in the central nervous system: its neurotropic feature and the direct effect of ZV on the placenta. Malformations and clinical findings on fetal development comprise congenital Zika syndrome. RT-PCR and serology (IgM) are useful for definitive diagnosis. However, we should keep in mind first that the viremia in pregnant women can stay for a longer period of time, and second, a positive IgM for Zika should be properly interpreted in an endemic area to other flavivirus...
December 2016: Revista Chilena de Infectología: órgano Oficial de la Sociedad Chilena de Infectología
https://www.readbyqxmd.com/read/28135771/the-clinical-features-of-paediatric-neural-tube-defects-changed-in-a-tertiary-care-centre-between-1997-and-2015
#7
Nina Haarup Gregersen, Kolja Kvist, Klaus Hindsø, Alfred Peter Born, Christina Engel Hoei-Hansen
Neural tube defects (NTDs) are congenital malformations of the central nervous system. The causes are often unknown, but they may be genetic or related to low folate levels or drug exposure in utero. There are approximately 65,000 births a year in Denmark and each year 60-70 Danish pregnancies will be affected by an NTD that is visible on an ultrasound (1). This article is protected by copyright. All rights reserved.
January 30, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28126366/testing-for-zika-virus-infection-in-pregnancy-key-concepts-to-deal-with-an-emerging-epidemic
#8
REVIEW
Catherine Eppes, Martha Rac, James Dunn, James Versalovic, Kristy O Murray, Melissa A Suter, Magda Sanz Cortes, Jimmy Espinoza, Maxim D Seferovic, Wesley Lee, Peter Hotez, Joan Mastrobattista, Steven L Clark, Michael A Belfort, Kjersti M Aagaard
Zika virus is an emerging mosquito-borne (Aedes genus) arbovirus of the Flaviviridae family. Following epidemics in Micronesia and French Polynesia during the past decade, more recent Zika virus infection outbreaks were first reported in South America as early as May 2013 and spread to now 50 countries throughout the Americas. Although no other flavivirus has previously been known to cause major fetal malformations following perinatal infection, reports of a causal link between Zika virus and microcephaly, brain and ocular malformations, and fetal loss emerged from hard-hit regions of Brazil by October 2015...
January 23, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28123344/deformed-skull-morphology-is-caused-by-the-combined-effects-of-the-maldevelopment-of-calvarias-cranial-base-and-brain-in-fgfr2-p253r-mice-mimicking-human-apert-syndrome
#9
Fengtao Luo, Yangli Xie, Wei Xu, Junlan Huang, Siru Zhou, Zuqiang Wang, Xiaoqing Luo, Mi Liu, Lin Chen, Xiaolan Du
Apert syndrome (AS) is a common genetic syndrome in humans characterized with craniosynostosis. Apert patients and mouse models showed abnormalities in sutures, cranial base and brain, that may all be involved in the pathogenesis of skull malformation of Apert syndrome. To distinguish the differential roles of these components of head in the pathogenesis of the abnormal skull morphology of AS, we generated mouse strains specifically expressing mutant FGFR2 in chondrocytes, osteoblasts, and progenitor cells of central nervous system (CNS) by crossing Fgfr2(+/P253R-Neo) mice with Col2a1-Cre, Osteocalcin-Cre (OC-Cre), and Nestin-Cre mice, respectively...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/28120348/effects-of-cadmium-manganese-and-lead-on-locomotor-activity-and-neurexin2a-expression-in-zebrafish
#10
Hongwei Tu, Chengji Fan, Xiaohui Chen, Jiaxian Liu, Bin Wang, Zhibin Huang, Yiyue Zhang, Xiaojing Meng, Fei Zou
The synaptic adhesion protein neurexin 2a (nrxn2a) plays a key role in neuronal development and is associated with cognitive functioning and locomotor behavior. Although low-level metal exposure poses a potential risk to the human nervous system, especially during the developmental stages, little is known about the effects of metal exposures on nrxn2a expression during embryonic development. We therefore exposed wild-type zebrafish embryos/larvae to cadmium (CdCl2 ), manganese (MnCl2 ) and lead ((CH3 COO)2 Pb), to determine their effect on mortality, malformation and hatching rate...
January 24, 2017: Environmental Toxicology and Chemistry
https://www.readbyqxmd.com/read/28116327/constitutional-de-novo-and-postzygotic-mutations-in-isolated-cases-of-cerebral-cavernous-malformations
#11
Matthias Rath, Stefanie Spiegler, Neetika Nath, Konrad Schwefel, Nataliya Di Donato, Johannes Gerber, G Christoph Korenke, Yorck Hellenbroich, Ute Hehr, Stephanie Gross, Ulrich Sure, Barbara Zoll, Eberhard Gilberg, Lars Kaderali, Ute Felbor
BACKGROUND: Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can be found in sporadic or autosomal dominantly inherited forms and manifest with headaches, seizures, and hemorrhagic stroke. The precise proportion of de novo mutations in the CCM1,CCM2, and CCM3 genes remains unknown. METHODS: We here present a series of six trios with de novo mutations that have been analyzed by amplicon deep sequencing to differentiate between constitutional and postzygotic mutations...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28109990/ictal-eeg-fmri-study-of-vertiginous-seizures
#12
Alessandra Morano, Marco Carnì, Sara Casciato, Anna Elisabetta Vaudano, Jinane Fattouch, Martina Fanella, Mariarita Albini, Luca Manfredi Basili, Giulia Lucignani, Marco Scapeccia, Regina Tomassi, Elisabetta Di Castro, Claudio Colonnese, Anna Teresa Giallonardo, Carlo Di Bonaventura
Vertigo and dizziness are extremely common complaints, related to either peripheral or central nervous system disorders. Among the latter, epilepsy has to be taken into consideration: indeed, vertigo may be part of the initial aura of a focal epileptic seizure in association with other signs/symptoms, or represent the only ictal manifestation, a rare phenomenon known as "vertiginous" or "vestibular" seizure. These ictal symptoms are usually related to a discharge arising from/involving temporal or parietal areas, which are supposed to be a crucial component of the so-called "vestibular cortex"...
January 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28099558/the-mortality-rate-after-hospital-discharge-in-patients-with-myelomeningocele-decreased-after-implementation-of-mandatory-flour-fortification-with-folic-acid
#13
Renato Manganelli Salomão, Tatiana Protzenko Cervante, José Francisco Manganelli Salomão, Soniza Vieira Alves Leon
Objective: To evaluate the mandatory folic acid fortification of flour on mortality rates after the hospital discharge of children born with myelomeningocele, the most affected age group and the most frequent cause of death. Methods: A retrospective study of 383 children born with myelomeningocele from January 1990 to December 2013 in a high-fetal-risk reference hospital. Results: A total of 39 patients died (10.1%),of which 23 (6%) died after discharge...
January 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28098958/perilesional-hyperintensity-on-t1-weighted-images-in-intra-axial-brain-masses-other-than-cavernous-malformations
#14
S Ali Nabavizadeh, Dasha Pechersky, J Eric Schmitt, MacLean Nasrallah, Ronald Wolf, Laurie Loevner, Alexander C Mamourian
BACKGROUND AND PURPOSE: Hyperintensity on T1-weighted imaging in perilesional vasogenic edema has been reported as a useful sign for differentiating cavernous malformation from other hemorrhagic intra-axial masses. In this study, we investigated the frequency of perilesional hyperintensity on T1-weighted imaging in patients with intra-axial hemorrhagic and nonhemorrhagic brain masses. METHODS: The study was performed with the approval of the institutional review board...
January 18, 2017: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
https://www.readbyqxmd.com/read/28074532/pathogenesis-of-developmental-anomalies-of-the-central-nervous-system-induced-by-congenital-cytomegalovirus-infection
#15
REVIEW
Hideya Kawasaki, Isao Kosugi, Shiori Meguro, Toshihide Iwashita
In humans, the herpes virus family member cytomegalovirus (CMV) is the most prevalent mediator of intrauterine infection-induced congenital defect. Central nervous system (CNS) dysfunction is a distinguishing symptom of CMV infection, and characterized by ventriculoencephalitis and microglial nodular encephalitis. Reports on the initial distribution of CMV particles and its receptors on the blood brain barrier (BBB) are rare. Nevertheless, several factors are suggested to affect CMV etiology. Viral particle size is the primary factor in determining the pattern of CNS infections, followed by the expression of integrin β1 in endothelial cells, pericytes, meninges, choroid plexus, and neural stem progenitor cells (NSPCs), which are the primary targets of CMV infection...
February 2017: Pathology International
https://www.readbyqxmd.com/read/28074379/neuroimaging-findings-of-congenital-zika-virus-infection-a-pictorial-essay
#16
Mohammad Zare Mehrjardi, Andrea Poretti, Thierry A G M Huisman, Heron Werner, Elham Keshavarz, Edward Araujo Júnior
Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses...
January 10, 2017: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/28061423/correlation-between-fetal-autopsy-and-prenatal-diagnosis-by-ultrasound-a-systematic-review
#17
REVIEW
A Cristina Rossi, Federico Prefumo
: The objective of this study was to review literature about the correlation between fetal autopsy and ultrasound findings of fetal malformations. Search in PubMed, Medline, EMBASE, Clinicl trials.org, reference list was performed. Inclusion criteria for studies selection were: fetal autopsy performed after termination of pregnancy (TOP) or stillbirth, TOP for fetal anomalies, prenatal diagnosis of malformations, data reported as proportional rates. EXCLUSION CRITERIA: case reports, non English language, data reported in graphs or percentage...
December 29, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28052552/celsr2-encoding-a-planar-cell-polarity-protein-is-a-putative-gene-in-joubert-syndrome-with-cortical-heterotopia-microophthalmia-and-growth-hormone-deficiency
#18
Thierry Vilboux, May Christine V Malicdan, Joseph C Roney, Andrew R Cullinane, Joshi Stephen, Deniz Yildirimli, Joy Bryant, Roxanne Fischer, Meghana Vemulapalli, James C Mullikin, Peter J Steinbach, William A Gahl, Meral Gunay-Aygun
Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic "molar tooth sign" on imaging. More than 27 genes are associated with Joubert syndrome, but some patients do not have mutations in any of these genes. Celsr1, Celsr2, and Celsr3 are the mammalian orthologues of the drosophila planar cell polarity protein, flamingo; they play important roles in neural development, including axon guidance, neuronal migration, and cilium polarity...
January 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28051181/the-larvicide-pyriproxyfen-blamed-during-the-zika-virus-outbreak-does-not-cause-microcephaly-in-zebrafish-embryos
#19
Stefania Dzieciolowska, Anne-Laure Larroque, Elizabeth-Ann Kranjec, Pierre Drapeau, Eric Samarut
Although the zika virus (ZIKV) has now been strongly correlated with emerging cases of microcephaly in the Americas, suspicions have been raised regarding the use of pyriproxyfen, a larvicide that prevents mosquito development, in drinking water. The effects of this compound on neurodevelopment have not yet been addressed specifically in vertebrates. As a result, we aimed at addressing the effects, if any, of pyriproxyfen on neurodevelopment in the zebrafish embryo as a vertebrate model. Using zebrafish transgenic lines expressing GFP in different cell populations (elavl3 in newborn neurons, gfap and nestin in neural stem cells), we focused on the analysis of whole embryonic brain volume after confocal 3D-reconstruction and the quantification of purified neural stem cells during early neurodevelopment by FACS-cell sorting from whole in vivo embryos...
January 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28040135/pallister-killian-syndrome-cytogenetics-and-molecular-investigations-of-mosaic-tetrasomy-12p-in-prenatal-chorionic-villus-and-in-amniocytes-strategy-of-prenatal-diagnosis
#20
Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino
OBJECTIVE: Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, and a variety of congenital malformations. Prenatally, PKS can be suspected in the presence of ultrasound anomalies: diaphragmatic hernia, rhizomelic micromelia, hydrops fetalis, fetal overweight, ventriculomegaly in the central nervous system, congenital heart defects, or absent visualization of the stomach...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
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