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https://www.readbyqxmd.com/read/28776215/-cavernomas-of-the-central-nervous-system-observational-study-of-111-patients
#1
C Mayer, U M Mauer, G Bluhm, R Mathieu, C Hackenbroch, S Mayer
PURPOSE: The prevalence of cavernomas (cavernous hemangioma) is 0.1-0.7%. Cavernomas are often found as an incidental finding within the framework of magnetic resonance imaging (MRI) examinations in mainly young and healthy patients. In the literature, the reported risk of hemorrhage varies greatly and is sometimes higher than that of aneurysms, which is surprising given that cavernomas are part of the low blood pressure system. After the diagnosis the medical practitioner and the patient have to decide on the further therapy, either surgical removal or the strategy of watchful waiting (conservative treatment)...
August 3, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28765025/congenital-malformations-of-the-central-nervous-system-in-rural-western-honduras-a-6-year-report-on-trends
#2
Dagoberto Estevez-Ordonez, Michael C Dewan, Michael J Feldman, Eleazar E Montalvan-Sanchez, Daniela M Montalvan-Sanchez, Aida A Rodriguez-Murillo, Samuel A Urrutia-Argueta, Charlotte B Cherry, Douglas R Morgan, Roberto Alvarez-Rodriguez, Christopher M Bonfield
BACKGROUND: Central nervous system (CNS) malformations including neural tube defects (NTDs) are the second most common type of birth defects world-wide, and are major causes of childhood disability and mortality. We report the first analysis of prevalence in Western Honduras of CNS malformations including NTDs over six consecutive years. METHODS: Data from all patients with congenital CNS malformations and total live births between 2010 and 2015 were obtained through institution and regional registries from all three public referral hospitals in Western Honduras, representing 67 municipalities...
July 29, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28736615/pulmonary-arteriovenous-malformations-complicated-by-splenic-infarction-and-abscess
#3
Jun Naito, Hajime Kasai, Masaki Suga, Toshihiko Sugiura, Nobuhiro Tanabe, Koichiro Tatsumi
Pulmonary arteriovenous malformation (PAVM) is an abnormal blood vessel connecting a pulmonary artery and a vein, and is accompanied by paradoxical embolism to other organs due to a right-to-left shunt. We report the case of a 66-year-old woman with PAVM complicated by splenic infarction and abscess. Although the PAVM had been detected on a chest image 2 years previously, and she had been advised to have further investigations, she decided not to follow this further at the time. She then visited our hospital complaining of worsening dyspnoea on exertion...
September 2017: Respirology Case Reports
https://www.readbyqxmd.com/read/28736116/central-nervous-system-anomalies-in-craniofacial-microsomia-a-systematic-review
#4
REVIEW
R W Renkema, C J J M Caron, E B Wolvius, D J Dunaway, C R Forrest, B L Padwa, M J Koudstaal
Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to provide an overview of the literature on the prevalence and types of CNS anomalies and developmental disorders in CFM, in order to improve the recognition and possible treatment of these anomalies. A systematic search was conducted and data on the number of patients, patient characteristics, type and prevalence of CNS anomalies or developmental delay, and correlations between CFM and CNS anomalies were extracted...
July 20, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28734813/incidence-and-types-of-pediatric-nystagmus
#5
David L Nash, Nancy N Diehl, Brian G Mohney
PURPOSE: To report the incidence, prevalent subtypes and clinical characteristics of pediatric nystagmus diagnosed over a 30-year period. DESIGN: Retrospective, population-based study METHODS: Using the Rochester Epidemiology Project, the medical records of all children (<19 years) diagnosed as residents in Olmsted County, Minnesota with any form of nystagmus from January 1, 1976, through December 31, 2005, were reviewed. RESULTS: Seventy-one children were diagnosed during the 30-year period, yielding an annual incidence of 6...
July 19, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28694214/visualization-of-migration-of-human-cortical-neurons-generated-from-induced-pluripotent-stem-cells
#6
Yohei Bamba, Yonehiro Kanemura, Hideyuki Okano, Mami Yamasaki
BACKGROUND: Neuronal migration is considered a key process in human brain development. However, direct observation of migrating human cortical neurons in the fetal brain is accompanied by ethical concerns and is a major obstacle in investigating human cortical neuronal migration. NEW METHOD: We established a novel system that enables direct visualization of migrating cortical neurons generated from human induced pluripotent stem cells (hiPSCs). RESULTS: We observed the migration of cortical neurons generated from hiPSCs derived from a control and from a patient with lissencephaly...
July 8, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28678053/raised-frequency-of-central-nervous-system-malformations-related-to-zika-virus-infection-in-two-birth-defects-surveillance-systems-in-bogot%C3%A3-and-cali-colombia
#7
Paula Hurtado-Villa, Angie K Puerto, Salomé Victoria, Gloria Gracia, Lesly Guasmayán, Patricia Arce, Gilberto Álvarez, Esperanza Blandón, Nubia Rengifo, Jorge A Holguín, Alexander Durán, Ignacio Zarante
Zika virus infection during pregnancy is now known to cause congenital microcephaly and severe brain defects. Colombia has been experiencing an epidemic wave of Zika infection, starting approximately in October 2015. Here we document the trends of microcephaly and severe CNS malformations in two major cities in Colombia from 2012 through 2016, tracking the epidemiologic curve from before through the major Zika epidemic so far. METHODS: The study included neural tube defects (anencephaly, spina bifida, encephalocele), holoprosencephaly, and hydrocephaly...
July 1, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28668954/lipoencephalocele-in-a-child-an-uncommon-swelling-in-the-occipital-region
#8
Ajay Kumar Verma, Anand Pandey, Digamber Chaubey, Kanoujia Sunil, Archika Gupta, Shiv Narain Kureel
Neural tube defects are common congenital malformations of the central nervous system. The 3 most common neural tube defects are anencephaly, myelomeningocele, and encephalocele. Lipoencephalocele is an extremely uncommon entity with sporadic reports in the literature. We treated a 4-year-old gild with occipital lipoencephalocele. This report presents the clinical presentation and management of the patient along with a review of the relevant literature.
2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28668426/fetal-mri-of-the-central-nervous-system-state-of-the-art
#9
REVIEW
Lucia Manganaro, Silvia Bernardo, Amanda Antonelli, Valeria Vinci, Matteo Saldari, Carlo Catalano
Prenatal ultrasonographic (US) examination is considered as the first tool in the assessment of fetal abnormalities. However, several large-scale studies point out that some malformations, in particular central nervous system (CNS) anomalies, are not well characterized through US. Therefore, the actual malformation severity is not always related to prenatal ultrasound (US) findings. Over the past 20 years, ultrafast Magnetic Resonance Imaging (MRI) has progressively increased as a prenatal 3rd level diagnostic technique with a good sensitivity, particularly for the study of fetal CNS malformations...
August 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28667164/immune-cell-dynamics-in-rhesus-macaques-infected-with-a-brazilian-strain-of-zika-virus
#10
Eduardo L V Silveira, Kenneth A Rogers, Sanjeev Gumber, Praveen Amancha, Peng Xiao, Shawna M Woollard, Siddappa N Byrareddy, Mauro Martins Teixeira, Francois Villinger
Zika virus (ZIKV) is a mosquito-borne and sexually transmitted flavivirus that is associated with fetal CNS-damaging malformations during pregnancy in humans. This study documents the viral kinetics and immune responses in rhesus macaques infected with a clinical ZIKV Brazilian isolate. We evaluated the viral kinetics and immune responses induced after an i.v. infection with a Brazilian ZIKV clinical isolate (HS-2015-BA-01) in rhesus macaques for up to 142 d. ZIKV-specific Ab-secreting cells, germinal center reactions, and monocyte, dendritic cell, NK, and T cell frequencies were monitored...
August 1, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28666648/morning-glory-disc-anomaly-with-an-ipsilateral-enlargement-of-the-optic-nerve-pathway
#11
D Thoma, I Nijs, P Demaerel, I Casteels
PURPOSE: To report three patients with an unilateral morning glory disc anomaly in association with an ipsilateral mild thickening of the optic nerve. METHODS: Three children with a morning glory disc anomaly underwent a magnetic resonance imaging (MRI) of the brain. Ophthalmological, genetic and MRI findings at follow-up are reported. A literature search on the association of morning glory anomaly in association with optic nerve glioma is reported.(1) RESULTS: Three children with an unilateral morning glory anomaly and ipsilateral poor visual acuity were found to have an ipsilateral mild optic nerve enlargement on brain MRI...
May 19, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28666583/pathophysiological-mechanisms-of-flavivirus-infection-of-the-central-nervous-system
#12
N Pardigon
Flaviviruses are important human pathogens. Transmitted by the bite of infected mosquitoes, Flaviviruses such as West Nile and Japanese encephalitis may reach the central nervous system where they can elicit severe diseases. Their ability to cross the blood-brain-barrier is still poorly understood. The newly emerging Zika Flavivirus on the other hand very rarely reaches the brain of adults, but can infect neural progenitors in the developing central nervous system of fetuses, eliciting devastating congenital malformations including microcephaly...
June 27, 2017: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
https://www.readbyqxmd.com/read/28646619/early-insights-into-zika-s-microcephaly-physiopathology-from-the-epicenter-of-the-outbreak-teratogenic-apoptosis-in-the-central-nervous-system
#13
Patricia Jungmann, Pedro Pires, Edward Araujo Júnior
Fetal infection by the Zika virus has been implicated in the exceptional rise in the number of microcephalic newborns recorded by the end of 2015 in Brazil. The mechanism by which this teratogenic effect is produced in the developing brain has not been fully established. Very early in the outbreak, we addressed this question by evaluating available initial data from a gestational and postnatal clinical investigation in the Brazilian state of Pernambuco. The present study was undertaken to test the hypothesis that the subtractive dysmorphic brain malformations observed in Zika-related microcephaly are primarily due to the massive induction of apoptosis of neuroprogenitor cells...
September 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28645800/high-throughput-sequencing-of-the-entire-genomic-regions-of-ccm1-krit1-ccm2-and-ccm3-pdcd10-to-search-for-pathogenic-deep-intronic-splice-mutations-in-cerebral-cavernous-malformations
#14
Matthias Rath, Sönke E Jenssen, Konrad Schwefel, Stefanie Spiegler, Dana Kleimeier, Christian Sperling, Lars Kaderali, Ute Felbor
Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can cause headaches, seizures and hemorrhagic stroke. Disease-associated mutations have been identified in three genes: CCM1/KRIT1, CCM2 and CCM3/PDCD10. The precise proportion of deep-intronic variants in these genes and their clinical relevance is yet unknown. Here, a long-range PCR (LR-PCR) approach for target enrichment of the entire genomic regions of the three genes was combined with next generation sequencing (NGS) to screen for coding and non-coding variants...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28643038/prevalence-of-cerebral-cavernous-malformations-associated-with-developmental-venous-anomalies-increases-with-age
#15
Waleed Brinjikji, Ali El-Rida El-Masri, John T Wald, Kelly D Flemming, Giuseppe Lanzino
BACKGROUND AND PURPOSE: To test the hypothesis that the prevalence of cerebral cavernous malformation (CCM) associated with developmental venous anomalies (DVAs) increases with age, we studied the age-related prevalence of DVA-associated CCM among patients with DVAs. MATERIALS AND METHODS: Patients with DVAs on contrast-enhanced MRI exams performed over a 2-year period were included in this study. A single neuroradiologist reviewed all imaging exams for the presence of CCMs...
June 22, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28634821/cavernous-malformations-of-central-nervous-system-in-pediatric-patients-our-single-centered-experience-in-50-patients-and-review-of-literature
#16
Dattaraj Paramanand Sawarkar, Suveen Janmatti, Rajinder Kumar, Pankaj Kumar Singh, Hitesh Kumar Gurjar, Shashank Sharad Kale, Bhawani Shanker Sharma, Ashok Kumar Mahapatra
PURPOSE: Cavernous malformations (CMs) are rare developmental cerebrovascular malformations of the central nervous system with a childhood prevalence of 0.3 to 0.53%. Our purpose was to assess the clinical features and microsurgical outcome in pediatric central nervous system (CNS) CMs. MATERIAL AND METHODS: We retrospectively enrolled all the CM patients admitted to our institute from 1 January 2001 to 31 December 2014. Data was analyzed for their clinical features and surgical outcome...
June 20, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28628360/genetic-risk-factors-for-folate-responsive-neural-tube-defects
#17
Anne M Molloy, Faith Pangilinan, Lawrence C Brody
Neural tube defects (NTDs) are the most severe congenital malformations of the central nervous system. The etiology is complex, with both genetic and environmental factors having important contributions. Researchers have known for the past two decades that maternal periconceptional use of the B vitamin folic acid can prevent many NTDs. Though this finding is arguably one of the most important recent discoveries in birth defect research, the mechanism by which folic acid exerts this benefit remains unknown. Research to date has focused on the hypothesis that an underlying genetic susceptibility interacts with folate-sensitive metabolic processes at the time of neural tube closure...
June 19, 2017: Annual Review of Nutrition
https://www.readbyqxmd.com/read/28620746/uniparental-disomy-as-an-unexpected-cause-of-meckel-gruber-syndrome-report-of-a-case
#18
Nadia Ortiz Bruechle, Peter Steuernagel, Klaus Zerres, Ingo Kurth, Thomas Eggermann, Cordula Knopp
BACKGROUND: Meckel-Gruber syndrome (MKS, OMIM #607361) is a rare pre- or perinatal lethal autosomal recessive ciliopathy caused by mutations in at least 12 known genes. It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndrome-related disorders. MKS is characterized by multicystic kidney dysplasia, central nervous system malformations (usually occipital encephalocele), ductal plate malformation of the liver, and postaxial polydactyly...
June 15, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28577344/associated-anomalies-in-cases-with-esophageal-atresia
#19
Claude Stoll, Yves Alembik, Beatrice Dott, Marie-Paule Roth
Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with esophageal atresia often have other non-EA associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with EA were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations...
June 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28568972/fetal-cerebral-magnetic-resonance-neurosonography-the-multiverse-and-the-brave-new-world-of-fetal-medicine
#20
Gustavo Malinger, Dario Paladini, Gianluigi Pilu, Ilan E Timor
Stuart Campbell was the first to use the metaphor of the parallel universes discussing the utilization of ultrasound in pregnancy.(1) The controversy around the use of magnetic resonance imaging (MRI) versus sonography to diagnose cerebral malformations is just another example in this regard. In one spatio-temporal continuum fetal neurosonography allows an accurate diagnosis of central nervous system anatomy(2-5) and malformations (6-9) including complex lesions such as commissural anomalies (10, 11) , posterior fossa malformations (12, 13) , disruptions (14-16) , and cortical anomalies(17) ; it performs similarly to magnetic resonance in the second and third trimester(18, 19) ; eventually, it allows a precise diagnosis of many malformations since the first trimester...
May 31, 2017: Ultrasound in Obstetrics & Gynecology
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