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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
#1
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
#2
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
#3
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...
January 10, 2017: Pathology International
https://www.readbyqxmd.com/read/28074379/neuroimaging-findings-of-congenital-zika-virus-infection-a-pictorial-essay
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28017372/a-syndromic-neurodevelopmental-disorder-caused-by-de-novo-variants-in-ebf3
#9
Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, John G Pappas, Jill A Rosenfeld, Alexandra J McCarty, Taylor Davis, Lynne Wolfe, Camilo Toro, Cynthia Tifft, Fan Xia, Nicholas Stong, Travis K Johnson, Coral G Warr, Shinya Yamamoto, David R Adams, Thomas C Markello, William A Gahl, Hugo J Bellen, Michael F Wangler, May Christine V Malicdan
Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown that EBF3 homologs are essential for survival and that loss-of-function mutations are associated with a range of nervous system developmental defects, including perturbation of neuronal development and migration. Interestingly, aristaless-related homeobox (ARX), a homeobox-containing transcription factor critical for the regulation of nervous system development, transcriptionally represses EBF3 expression...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28017252/microcephaly-and-arthrogryposis-multiplex-congenita-the-full-blown-cns-spectrum-in-newborns-with-zikv-infection
#10
Marcio Leyser, Alexandre Fernandes, Pamela Passos, Camila Pupe, Andre Pc Matta, Marcio Moacyr Vasconcelos, Osvaldo Jm Nascimento
The recent alarming statements concerning the newborn ZIKV-induced microcephaly epidemics in the Northeast of Brazil, released by the Brazilian Ministry of Health, as well as important international health agencies, such as the World Health Organization and the Pan American Health Organization, raised many "why and how" questions so far, that will hopefully be scientifically answered, as more researches in that regard come up in the long term. In this paper, we describe another potentially ZIKV-induced central nervous system and musculoskeletal disorder that has accompanied microcephaly in these children: atrhogryposis multiplex congenita...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28002851/prenatal-ultrasonographic-diagnosis-of-cataract-in-utero-manifestations-of-cryptic-disease
#11
Eran Ashwal, Asaf Achiron, Yinon Gilboa, Michal Berkenstadt, Mordecai Rosner, Reuven Achiron
Purpose To report and review our experience with antenatal evaluation for fetuses diagnosed with congenital cataract. Materials and Methods We retrospectively identified pregnancies diagnosed with fetal cataract during antenatal ultrasound. Evaluation of fetal eyes included intraocular anatomy and biometry. Data on fetal malformations, serology and fetal karyotype were collected. Results 8 cases, identified over the course of 10 years, were reviewed. Week 15 was the mean time for diagnosis (range 11 - 34)...
December 21, 2016: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/27978593/fetal-neurosonogaphy-ultrasound-and-magnetic-resonance-imaging-in-competition
#12
S Tercanli, F Prüfer
Both in routine diagnostics and detailed, highly specialized workups, major advances have been observed in many areas of ultrasound due to an increase in expertise and improved technology in recent years. This is particularly true in the case of fetal neurosonography 1 2 3 4. Malformations of the CNS together with fetal heart defects are among the most common congenital anomalies. From the embryonic phase to the late third trimester, the CNS undergoes extensive development and maturation processes. The diagnosis of CNS anomalies is therefore primarily dependent on the time at which the examination is performed and the experience of the examiner...
December 2016: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/27969558/characteristics-of-the-offspring-of-women-with-a-history-of-malignancy-excluding-congenital-malformations
#13
Zahra Sabeti Rad, Britt Friberg, Emir Henic, Lars Rylander, Olof Ståhl, Bengt Källén, Göran Lingman
OBJECTIVE: To study the characteristics (except congenital malformations) of offspring born to women with a history of malignancy. METHODS: Data were obtained by linkage between four different Swedish national health registers. We compared the offspring born between 1994 and 2011 of women with a history of malignancy with all other infants. Survival of the infants was followed up through 2013. Adjusting for confounders was performed using Mantel-Haenszel methodology...
November 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/27960197/birth-defects-among-fetuses-and-infants-of-us-women-with-evidence-of-possible-zika-virus-infection-during-pregnancy
#14
Margaret A Honein, April L Dawson, Emily E Petersen, Abbey M Jones, Ellen H Lee, Mahsa M Yazdy, Nina Ahmad, Jennifer Macdonald, Nicole Evert, Andrea Bingham, Sascha R Ellington, Carrie K Shapiro-Mendoza, Titilope Oduyebo, Anne D Fine, Catherine M Brown, Jamie N Sommer, Jyoti Gupta, Philip Cavicchia, Sally Slavinski, Jennifer L White, S Michele Owen, Lyle R Petersen, Coleen Boyle, Dana Meaney-Delman, Denise J Jamieson
Importance: Understanding the risk of birth defects associated with Zika virus infection during pregnancy may help guide communication, prevention, and planning efforts. In the absence of Zika virus, microcephaly occurs in approximately 7 per 10 000 live births. Objective: To estimate the preliminary proportion of fetuses or infants with birth defects after maternal Zika virus infection by trimester of infection and maternal symptoms. Design, Setting, and Participants: Completed pregnancies with maternal, fetal, or infant laboratory evidence of possible recent Zika virus infection and outcomes reported in the continental United States and Hawaii from January 15 to September 22, 2016, in the US Zika Pregnancy Registry, a collaboration between the CDC and state and local health departments...
3, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/27926639/angiotensin-converting-enzyme-inhibitors-and-the-risk-of-congenital-malformations
#15
Brian T Bateman, Elisabetta Patorno, Rishi J Desai, Ellen W Seely, Helen Mogun, Sara Z Dejene, Michael A Fischer, Alexander M Friedman, Sonia Hernandez-Diaz, Krista F Huybrechts
OBJECTIVE: To examine the association between first-trimester angiotensin-converting enzyme (ACE) inhibitor exposure and the risk of overall major congenital, cardiac, and central nervous system malformations. METHODS: We used a cohort of completed pregnancies linked to liveborn neonates derived from Medicaid claims from 2000 to 2010. We examined the risk of malformations associated with first-trimester exposure to an ACE inhibitor. Propensity score-based methods were used to control for potential confounders including maternal demographics, medical conditions, exposure to other medications, and measures of health care utilization...
January 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27878613/intermittent-low-dose-bevacizumab-in-hereditary-hemorrhagic-telangiectasia-a%C3%A2-case-report
#16
Florian Huemer, Martin Dejaco, Christoph Grabmer, Thomas Melchardt, Daniel Neureiter, Georg Mayer, Alexander Egle, Richard Greil, Lukas Weiss
BACKGROUND: Hereditary hemorrhagic telangiectasia is an inherited autosomal dominant disease presenting with recurrent bleeding episodes and iron deficiency anemia due to vascular malformations. Hereditary hemorrhagic telangiectasia is associated with an increased risk of stroke, gastrointestinal bleeding and pulmonary hypertension and life expectancy is significantly reduced. Excess vascular endothelial growth factor (VEGF) plays a key role in the pathophysiology of the disease. CASE PRESENTATION: Here we report about a male patient with hereditary hemorrhagic telangiectasia presenting with pulmonary and central nervous system involvement experiencing repetitive nosebleeds, necessitating frequent local cauterization and transfusion of more than 100 units of packed red blood cells...
November 23, 2016: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/27874196/prenatal-diagnosis-of-upper-extremity-malformations-with-ultrasonography-diagnostic-features-and-perinatal-outcome
#17
Mehmet Serdar Kutuk, Ozguc Altun, Sadan Tutus, Muhammet Ensar Dogan, Mahmut Tuncay Ozgun, Munis Dundar
OBJECTIVE: The aim of this study was to assess the sonographic (US) characteristics, associated malformations, chromosomal status, and perinatal outcomes of fetuses with an upper extremity malformation (UEM) detected by US examination. METHODS: The data of all patients evaluated in the Department of Obstetrics and Gynecology, Prenatal Diagnosis Unit between 2010 and 2015 were searched for UEM. RESULTS: A total of 51 cases with UEM were detected...
November 22, 2016: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/27869383/-geographic-distribution-of-perinatal-mortality-due-to-congenital-malformations-in-colombia-1999-2008-an-analysis-of-vital-statistics-data
#18
Sandra Patricia Misnaza, Claudia Patricia Roncancio, Isabel Cristina Peña, Franklin Edwin Prieto
INTRODUCTION: During 2012, 13% of the deaths worldwide in children under the age of 28 days were due to congenital malformations. In Colombia, congenital malformations are the second leading cause of infant mortality. Objective: To determine the geographical distribution of extended perinatal mortality due to congenital malformations in Colombia between 1999 and 2008. Materials and methods: We conducted a cross-sectional study. We revised all death certificates issued between 1999 and 2008...
September 1, 2016: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/27858393/the-clinical-predictors-of-shunt-dependent-hydrocephalus-following-aneurysmal-subarachnoid-hemorrhage
#19
Sio Iong Chang, David Hung-Tsang Yen, Ming Dar Tsai, Cheng-Ta Hsieh
AIM: Shunt-dependent hydrocephalus (SDH) is a relatively common complication following aneurysmal subarachnoid hemorrhage (aSAH). Delay in diagnosis and treatment may worsen neurological outcome. This study was conducted to identify early clinical factors associated with SDH following aSAH. MATERIAL AND METHODS: Patients diagnosed with aSAH at our hospital from January 2010 through July 2014 were included. Patients aged ≤ 18 or ≥ 90 year, with concurrent arteriovenous malformation, treated with both clipping and coiling, or not receiving definitive treatment were excluded...
October 17, 2016: Turkish Neurosurgery
https://www.readbyqxmd.com/read/27831835/imaging-of-neurologic-conditions-in-pregnant-patients
#20
Sangam Kanekar, Shante Bennett
A number of physiologic, hormonal, immunologic, and hemodynamic changes take place in the maternal body during pregnancy. The majority of these changes are essential for maintaining the normal course of pregnancy. However, these changes may also cause acute or chronic conditions that affect various biologic systems in the mother. In addition, conditions of the central and peripheral nervous systems can cause a variety of neurologic symptoms and complications. Neurologic signs and symptoms in pregnant and postpartum women may be due to the exacerbation of a preexisting medical condition, the initial manifestation of a primary central nervous system-related problem, or a neurologic problem unique to pregnancy and the postpartum period...
November 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
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