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https://www.readbyqxmd.com/read/29344994/embryology-of-the-craniocervical-junction-and-posterior-cranial-fossa-part-ii-embryogenesis-of-the-hindbrain
#1
Mohammadali M Shoja, Chad J Jensen, Rebecca Ramdhan, Joshua Chern, W Jerry Oakes, R Shane Tubbs
Although pathology of the hindbrain and its derivatives can have life altering effects on a patient, a comprehensive review on its embryology is difficult to find in the peer-reviewed medical literature. Therefore, this review paper, using standard search engines, seemed timely. The embryology of the hindbrain is complex and relies on a unique timing of various neurovascular and bony elements. Derailment of these developmental processes can lead to a wide range of malformations such as the Chiari malformations...
January 18, 2018: Clinical Anatomy
https://www.readbyqxmd.com/read/29343712/zika-virus-infection-in-pregnant-rhesus-macaques-causes-placental-dysfunction-and-immunopathology
#2
Alec J Hirsch, Victoria H J Roberts, Peta L Grigsby, Nicole Haese, Matthias C Schabel, Xiaojie Wang, Jamie O Lo, Zheng Liu, Christopher D Kroenke, Jessica L Smith, Meredith Kelleher, Rebecca Broeckel, Craig N Kreklywich, Christopher J Parkins, Michael Denton, Patricia Smith, Victor DeFilippis, William Messer, Jay A Nelson, Jon D Hennebold, Marjorie Grafe, Lois Colgin, Anne Lewis, Rebecca Ducore, Tonya Swanson, Alfred W Legasse, Michael K Axthelm, Rhonda MacAllister, Ashlee V Moses, Terry K Morgan, Antonio E Frias, Daniel N Streblow
Zika virus (ZIKV) infection during pregnancy leads to an increased risk of fetal growth restriction and fetal central nervous system malformations, which are outcomes broadly referred to as the Congenital Zika Syndrome (CZS). Here we infect pregnant rhesus macaques and investigate the impact of persistent ZIKV infection on uteroplacental pathology, blood flow, and fetal growth and development. Despite seemingly normal fetal growth and persistent fetal-placenta-maternal infection, advanced non-invasive in vivo imaging studies reveal dramatic effects on placental oxygen reserve accompanied by significantly decreased oxygen permeability of the placental villi...
January 17, 2018: Nature Communications
https://www.readbyqxmd.com/read/29343133/central-nervous-system-malformation-associated-with-methamphetamine-abuse-during-pregnancy
#3
Silvia Maya-Enero, Júlia Candel-Pau, Mónica Rebollo-Polo, Santiago Candela-Cantó, Rafael de la Torre, María Ángeles López-Vílchez
INTRODUCTION: Prenatal methamphetamine exposure is related to prematurity, fetal growth restriction, neurobehavioral effects and long-term motor and cognitive sequelae. PATIENT PRESENTATION: We report the case of a newborn from a Filipina with no prenatal care with a complex brain malformation. Methamphetamine was identified in maternal and neonatal urine and in maternal hair, raising our suspicion of methamphetamine as a cause of this malformation. DISCUSSION: Methamphetamine abuse is a growing problem worldwide...
January 17, 2018: Clinical Toxicology
https://www.readbyqxmd.com/read/29325241/typical-lesions-in-the-fetal-nervous-system-correlations-between-fetal-magnetic-resonance-imaging-and-obstetric-ultrasonography-findings
#4
Heron Werner, Taisa Davaus Gasparetto, Pedro Daltro, Emerson Leandro Gasparetto, Edward Araujo Júnior
Central nervous system (CNS) malformations play a role in all fetal malformations. Ultrasonography (US) is the best screening method for identifying fetal CNS malformations. A good echographic study depends on several factors, such as positioning, fetal mobility and growth, the volume of amniotic fluid, the position of the placenta, the maternal wall, the quality of the apparatus, and the sonographer's experience. Although US is the modality of choice for routine prenatal follow-up because of its low cost, wide availability, safety, good sensitivity, and real-time capability, magnetic resonance imaging (MRI) is promising for the morphological evaluation of fetuses that otherwise would not be appropriately evaluated using US...
October 21, 2017: Ultrasonography
https://www.readbyqxmd.com/read/29313587/hereditary-haemorrhagic-telangiectasia-with-severe-anemia-and-recurrent-cns-infections
#5
Nrushen Peesapati, Pbpr Naidu, S Sunitha, P V Sivaram
Hereditary Haemorrhagic Telangiectasia, also known as Osler-Rendu-Weber disease is a rare autosomal dominant disorder affecting small vessels of multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Usually presents as skin and mucosal telangiectasias, epistaxis, gastrointestinal bleeding and visceral arteriovenous malformations. Although the epistaxis and gastrointestinal blood loss can result in anaemia, patients with hereditary haemorrhagic telangiectasia rarely presents as severe anaemia1 or CNS infections...
September 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29285825/targeted-copy-number-screening-highlights-an-intragenic-deletion-of-wdr63-as-the-likely-cause-of-human-occipital-encephalocele-and-abnormal-cns-development-in-zebrafish
#6
Wolfgang Hofmeister, Maria Pettersson, Deniz Kurtoglu, Miriam Armenio, Jesper Eisfeldt, Nikos Papadogiannakis, Peter Gustavsson, Anna Lindstrand
Congenital malformations affecting the neural tube can present as isolated malformations or occur in association with other developmental abnormalities and syndromes. Using high resolution copy number screening in 66 fetuses with neural tube defects we identified 6 fetuses with likely pathogenic mutations, three aneuploidies (one trisomy 13 and two trisomy 18) and three deletions previously reported in NTDs (one 22q11.2 deletion and two 1p36 deletions) corresponding to 9% of the cohort. In addition, we identified five rare deletions and two duplications of uncertain significance including a rare intragenic heterozygous in-frame WDR63 deletion in a fetus with occipital encephalocele...
December 28, 2017: Human Mutation
https://www.readbyqxmd.com/read/29280021/clinical-features-and-neurosurgical-treatment-of-trigonal-cavernous-malformations
#7
Chengjun Wang, Meng Zhao, Xiaofeng Deng, Jia Wang, Zhongli Jiang, Jizong Zhao
The goals of this study were to analyze the incidence, clinical manifestations, neuroimaging findings, surgical treatments, and neurological outcomes of trigonal cavernous malformations (TCMs). Among 1395 cases of intracranial and intraspinal cavernous malformations (CMs) surgically treated between 2003 and 2016 at Beijing Tiantan Hospital, a series of 12 patients with TCM was chosen for analysis and their records were reviewed. We also performed an exhaustive literature search using PubMed to identify all previously reported cases in the literatures...
December 26, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/29250689/anatomic-variants-in-dandy-walker-complex
#8
Maria Claudia Jurcă, Kinga Kozma, CodruŢa Diana Petcheşi, Marius Bembea, Ovidiu Laurean Pop, Gabriela MuŢiu, Mihaela Cristiana Coroi, Alexandru Daniel Jurcă, Luciana Dobjanschi
Dandy-Walker complex (DWC) is a malformative association of the central nervous system. DWC includes four different types: Dandy-Walker malformation (vermis agenesis or hypoplasia, cystic dilatation of the fourth ventricle and a large posterior fossa); Dandy-Walker variant (vermis hypoplasia, cystic dilatation of the fourth ventricle, normal posterior fossa); mega cysterna magna (large posterior fossa, normal vermis and fourth ventricle) and posterior fossa arachnoid cyst. We present and discuss four cases with different morphological and clinical forms of the Dandy-Walker complex...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29232345/factors-associated-with-lack-of-vision-improvement-in-children-with-cortical-visual-impairment
#9
Swati Handa, Seyed E Saffari, Mark Borchert
BACKGROUND: Improvement in vision has been noted in children with cortical visual impairment (CVI), resulting from disparate types of brain injury. The purpose of our study was to determine the risk factors associated with poor recovery of vision in this group of patients. METHODS: Case records of children who were born before 2010 with at least 4 follow-up visits for CVI were reviewed for underlying etiologies of CVI, visual acuity (VA), and associated neurological and ophthalmological disorders...
December 8, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29229467/renal-involvement-in-pmm2-cdg-a-mini-review
#10
REVIEW
Ruqaiah Altassan, Peter Witters, Zubaida Saifudeen, Dulce Quelhas, Jaak Jaeken, Elena Levtchenko, David Cassiman, Eva Morava
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-linked glycosylation disorder. The majority of patients present with a multisystem phenotype, including central nervous system involvement, hepatopathy, gastrointestinal and cardiac symptoms, endocrine dysfunction and abnormal coagulation. Renal abnormalities including congenital malformations and altered renal function are part of the multisystem manifestations of congenital disorders of glycosylation. We reviewed the literature on 933 patients with molecularly and/or enzymatically confirmed PMM2 deficiency to evaluate the incidence of renal involvement in PMM2-CDG...
November 28, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29226552/spontaneously-regressing-brain-lesions-in-smith-lemli-opitz-syndrome
#11
An N Dang Do, Eva H Baker, Katherine E Warren, Simona E Bianconi, Forbes D Porter
Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder caused by an inborn error of cholesterol synthesis that affects the development of many organ systems. Malformations in the central nervous system typically involve midline structures and reflect abnormal growth and differentiation of neurons and supporting cells. Despite these defects in central nervous system development, brain tumor formation has only rarely been reported in association with SLOS. We present three individuals with SLOS and lesions in the basal ganglia or brainstem detected by MRI that were concerning for tumor formation...
December 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29214587/rare-neurodegenerative-diseases-clinical-and-genetic-update
#12
Antoni Matilla-Dueñas, Marc Corral-Juan, Agustí Rodríguez-Palmero Seuma, Dolores Vilas, Lourdes Ispierto, Sara Morais, Jorge Sequeiros, Isabel Alonso, Víctor Volpini, Carmen Serrano-Munuera, Guillem Pintos-Morell, Ramiro Álvarez, Ivelisse Sánchez
More than 600 human disorders afflict the nervous system. Of these, neurodegenerative diseases are usually characterised by onset in late adulthood, progressive clinical course, and neuronal loss with regional specificity in the central nervous system. They include Alzheimer's disease and other less frequent dementias, brain cancer, degenerative nerve diseases, encephalitis, epilepsy, genetic brain disorders, head and brain malformations, hydrocephalus, stroke, Parkinson's disease, multiple sclerosis, amyotrophic lateral sclerosis (ALS or Lou Gehrig's Disease), Huntington's disease, and Prion diseases, among others...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29210307/amniotic-fluid-oxidant-antioxidant-status-in-foetal-congenital-nervous-system-anomalies
#13
Numan Cim, Harun Egemen Tolunay, Erbil Karaman, Barıs Boza, Mustafa Bilici, Orkun Çetin, Recep Yıldızhan, Hanım Guler Sahin
Objective This study aimed to evaluate the oxidant-antioxidant status of amniotic fluid in pregnant women with foetal congenital malformations of the central nervous system. Methods We studied pregnant women with foetal congenital nervous system anomalies at 16-22 weeks' gestation (n = 36). The control group (n = 30) consisted of pregnant women at the same gestational age who underwent amniocentesis, resulting in a normal karyotype. We analysed glutathione, catalase, and malondialdehyde levels in amniotic fluid...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/29207452/congenital-malformations-in-infants-of-mothers-undergoing-assisted-reproductive-technologies-a-systematic-review-and-meta-analysis-study
#14
Hayedeh Hoorsan, Parvin Mirmiran, Shahla Chaichian, Yousef Moradi, Roza Hoorsan, Fatemeh Jesmi
Objectives: This meta-analysis aimed to evaluate congenital malformations in infants conceived by assisted reproductive techniques (ART), compared with infants conceived spontaneously. Methods: In this study, available resources searched to find relevant articles included PubMed, ScienceDirect, Scopus, Google Scholar, Cochrane, ProQuest, Iranmedex, Magiran, and Scientific Information Database. After extracting the necessary information from evaluated articles, meta-analysis on the articles' data was performed using Stata version 11...
November 2017: Journal of Preventive Medicine and Public Health, Yebang Ŭihakhoe Chi
https://www.readbyqxmd.com/read/29199381/neurosurgical-management-of-cavernous-malformations-located-at-the-foramen-of-monro
#15
Chengjun Wang, Meng Zhao, Xiaofeng Deng, Jia Wang, Qingming Shu, Zhongli Jiang, Jizong Zhao
Cavernous malformations (CMs) located at the foramen of Monro (FM) are relatively rare benign vascular malformations. Knowledge of FM CM is poor. The aims of this study were to describe the incidence, clinical presentation, radiological features, surgical approaches, and neurological outcomes for FM CM patients and to discuss the treatment strategy for this disease. We present a series of nine FM CM patients (four males, five females; mean age 29.3 years) who were treated at a single neurosurgical center. FM CM accounted for 0...
December 4, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/29198073/apert-syndrome-magnetic-resonance-imaging-mri-of-associated-intracranial-anomalies
#16
REVIEW
Ai Peng Tan, Kshitij Mankad
INTRODUCTION: Apert syndrome is one of the most common craniosynostosis syndrome caused by mutations in genes encoding fibroblast growth factor receptor 2 (FGFR2). It is characterized by multisuture craniosynostosis, midfacial hypoplasia, abnormal skull base development and syndactyly of all extremities. Apert syndrome is associated with a wide array of central nervous system (CNS) anomalies, possibly the cause of the common occurrence of mental deficiency in patients with Apert syndrome...
December 2, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29193771/transition-of-akabane-virus-genogroups-and-its-association-with-changes-in-the-nature-of-disease-in-japan
#17
T Yanase, T Kato, Y Hayama, M Akiyama, N Itoh, S Horiuchi, Y Hirashima, H Shirafuji, M Yamakawa, S Tanaka, T Tsutsui
Akabane virus (AKAV) is teratogenic to the foetus of domestic ruminants and causes a significant reproduction loss in cattle in Japan. In several past epizootics in cattle, AKAV was also associated with post-natal encephalomyelitis, mainly in calves and young stock. Previously analysed AKAV isolates in East Asia form two major clusters, genogroups I and II, with isolates involved in encephalomyelitis belonging mainly to the former. Between 2007 and 2013, AKAV epizootics were regularly observed in Japan during the summer/autumn season, and abnormal deliveries and post-natal encephalomyelitis caused by the virus in cattle were reported...
November 29, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29189693/practice-bulletin-no-187-neural-tube-defects
#18
(no author information available yet)
Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Outcomes and disabilities depend on level and extent of lesion; for instance, anencephaly is incompatible with life but most infants with spina bifida will survive after surgical repair (4)...
December 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29189691/practice-bulletin-no-187-summary-neural-tube-defects
#19
(no author information available yet)
Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Outcomes and disabilities depend on level and extent of lesion; for instance, anencephaly is incompatible with life but most infants with spina bifida will survive after surgical repair (4)...
December 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29186574/torsina-dysfunction-causes-persistent-neuronal-nuclear-pore-defects
#20
Samuel S Pappas, Chun-Chi Liang, Sumin Kim, CheyAnne O Rivera, William T Dauer
A critical challenge to deciphering the pathophysiology of neurodevelopmental disease is identifying which of the myriad abnormalities that emerge during CNS maturation persist to contribute to long-term brain dysfunction. Childhood-onset dystonia caused by a loss-of-function mutation in the AAA+ protein torsinA exemplifies this challenge. Neurons lacking torsinA develop transient nuclear envelope (NE) malformations during CNS maturation, but no NE defects are described in mature torsinA null neurons. We find that during postnatal CNS maturation torsinA null neurons develop mislocalized and dysfunctional nuclear pore complexes (NPC) that lack NUP358, normally added late in NPC biogenesis...
November 24, 2017: Human Molecular Genetics
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