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https://www.readbyqxmd.com/read/29346650/persistence-of-zika-virus-after-birth-clinical-virological-neuroimaging-and-neuropathological-documentation-in-a-5-month-infant-with-congenital-zika-syndrome
#1
Leila Chimelli, Sheila Moura Pone, Elyzabeth Avvad-Portari, Zilton Farias Meira Vasconcelos, Andrea Araújo Zin, Daniela Prado Cunha, Nathalia Raposo Thompson, Maria Elisabeth Lopes Moreira, Clayton A Wiley, Marcos Vinicius da Silva Pone
During the Zika epidemic in Brazil, a baby was born at term with microcephaly and arthrogryposis. The mother had Zika symptoms at 10 weeks of gestation. At 17 weeks, ultrasound showed cerebral malformation and ventriculomegaly. At 24 weeks, the amniotic fluid contained ZIKV RNA and at birth, placenta and maternal blood were also positive using RT-qPCR. At birth the baby urine contained ZIKV RNA, whereas CSF at birth and urine at 17 days did not. Seizures started at 6 days. EEG was abnormal and CT scan showed cerebral atrophy, calcifications, lissencephaly, ventriculomegaly, and cerebellar hypoplasia...
January 13, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29346049/microphthalmia-corneal-dermoids-and-congenital-anomalies-resembling-goldenhar-syndrome-in-a-cat
#2
William Berkowski, Ingeborg Langohr, Anthony Pease, Joshua Bartoe
CASE DESCRIPTION An 18-month-old spayed female domestic shorthair cat was evaluated because of conjunctivitis and skin-fold dermatitis secondary to bilateral microphthalmia, corneal dermoids, and ankyloblepharon. CLINICAL FINDINGS Physical examination revealed bilateral microphthalmia, bilaterally symmetrical corneal dermoids, ankyloblepharon, superior and inferior entropion, prognathism, and facial asymmetry with deviation of the nasal septum. Computed tomography revealed malformed, thickened bony orbits with mineralization of the orbital ligament bilaterally...
February 1, 2018: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/29343148/predictors-of-intracranial-hemorrhage-volume-and-distribution-in-brain-arteriovenous-malformation
#3
Jay F Yu, Andrew D Nicholson, Jeffrey Nelson, Matthew D Alexander, Stephanie H Tse, Steven W Hetts, J Claude Hemphill, Helen Kim, Daniel L Cooke
Background and purpose Despite evidence regarding risk factors for brain arteriovenous malformation (bAVM)-associated spontaneous intracranial hemorrhage (ICH), few data exist describing the spectrum of clinical outcomes that bAVM-associated ICH may manifest. This study aimed to identify the demographical, clinical, and bAVM anatomical variables associated with ICH volume and the presence of intraventricular hemorrhage (IVH) of ruptured bAVMs, two indicators of worse clinical outcome, to help better predict outcome for unruptured bAVMs...
January 1, 2018: Interventional Neuroradiology
https://www.readbyqxmd.com/read/29343133/central-nervous-system-malformation-associated-with-methamphetamine-abuse-during-pregnancy
#4
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/29336632/m%C3%A3-bius-syndrome-with-cardiac-rhabdomyomas
#5
Aimee Verner, Swati Agarwal-Sinha, Frank Yanfeng Han
BACKGROUND: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis...
January 16, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29334259/development-of-three-dimensional-brain-arteriovenous-malformation-model-for-patient-communication-and-young-neurosurgeon-education
#6
Mengqi Dong, Guangzhong Chen, Kun Qin, Xiaowen Ding, Dong Zhou, Chao Peng, Shaojian Zeng, Xianming Deng
PURPOSE: Rapid prototyping technology is used to fabricate three-dimensional (3D) brain arteriovenous malformation (AVM) models and facilitate presurgical patient communication and medical education for young surgeons. METHODS: Two intracranial AVM cases were selected for this study. Using 3D CT angiography or 3D rotational angiography images, the brain AVM models were reconstructed on personal computer and the rapid prototyping process was completed using a 3D printer...
January 15, 2018: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/29333830/-treatment-with-sublingual-desmopressin-in-two-infants-with-hydranencephaly-and-central-diabetes-insipidus
#7
Gustavo R Marín, Berta Baspineiro, Iris Vilca
Central diabetes insipidus is a rare disease in children caused by a deficiency of vasopressin. Its main clinical manifestations are polyuria and polydipsia. Brain malformations are one of the main causes. Desmopressin is the synthetic drug of choice for the treatment. One of the routes of administration is sublingual and its use in infants is very limited. We describe two infants with central diabetes insipidus and hydranencephaly who were successfully treated with sublingual desmopressin.
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29330274/cerebrofacial-arteriovenous-metameric-syndrome-with-hypopituitarism-a-rare-association
#8
Justin Christopher Ng, Chinthaka Appuhamy, Wickly Lee
Case of cerebrofacial arteriovenous metameric syndrome (CAMS) in a 9-year-old boy is described with arteriovenous malformation simultaneously involving the brain and face, with characteristic CAMS type 1 and 2 involvement. This patient demonstrates the wide spectrum of clinical manifestations of CAMS, and in this particular case, the patient exhibits features of hypopituitarism-an association that was not previously described in the literature to our knowledge. Awareness of the underlying embryological abnormality and recognition of resultant clinical and radiological presentations are paramount for diagnosis and treatment...
January 12, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29327202/transient-disruption-of-adenosine-signaling-during-embryogenesis-triggers-a-pro-epileptic-phenotype-in-adult-zebrafish
#9
Fabiano Peres Menezes, Felipe Machado Torresini, Laura Roesler Nery, Rosane Souza da Silva
Adenosinergic signaling has important effects on brain function, anatomy, and physiology in both late and early stages of development. Exposure to caffeine, a non-specific blocker of adenosine receptor, has been indicated as a developmental risk factor. Disruption of adenosinergic signaling during early stages of development can change the normal neural network formation and possibly lead to an increase in susceptibility to seizures. In this work, morpholinos (MO) temporarily blocked the translation of adenosine receptor transcripts, adora1, adora2aa, and adora2ab, during the embryonic phase of zebrafish...
January 11, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29327142/quality-of-life-and-disability-12-months-after-surgery-vs-conservative-management-for-unruptured-brain-arteriovenous-malformations-scottish-population-based-and-australian-hospital-based-studies
#10
Joan Margaret O'Donnell, Rustam Al-Shahi Salman, Maurizio Manuguerra, Nazih Assaad, Michael Kerin Morgan
BACKGROUND: Few data are available on disability and quality of life (QOL) after surgery versus conservative management for unruptured brain arteriovenous malformations (uAVMs). OBJECTIVE: The aim of this study was to test the hypothesis that QOL and disability are worse after surgery ± preoperative embolisation for uAVM compared with conservative management. METHODS: We included consecutive patients diagnosed with uAVM from a prospective population-based study in Scotland (1999-2003; 2006-2010) and a prospective hospital-based series in Australia (2011-2015)...
January 11, 2018: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29326517/18p-deletion-syndrome-case-report-with-clinical-consideration-and-management
#11
Megha Goyal, Mayuri Jain, Sachin Singhal, Kirty Nandimath
18p deletion syndrome is characterized by the deletion of short arm of chromosome 18. Presentation of this syndrome is quite variable with dysmorphic features, growth deficiencies, and mental retardation with poor verbal performance. Few patients even fail to thrive when malformations involving the heart and brain are severe. In the present article, we report an isolated case of 18p deletion in a 23-year-old female who for the first time reported to the hospital for dental problems. The patient was short statured with mental retardation and craniofacial, skeletal, dental, and endocrinal abnormalities...
October 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29325060/pathophysiological-analyses-of-leptomeningeal-heterotopia-using-gyrencephalic-mammals
#12
Naoyuki Matsumoto, Naoki Kobayashi, Natsu Uda, Miwako Hirota, Hiroshi Kawasaki
Leptomeningeal glioneuronal heterotopia (LGH) is a focal malformation of the cerebral cortex and frequently found in patients with thanatophoric dysplasia (TD). The pathophysiological mechanisms underlying LGH formation are still largely unclear because of difficulties in obtaining brain samples from human TD patients. Recently, we established a new animal model for analyzing cortical malformations of human TD by utilizing our genetic manipulation technique for gyrencephalic carnivore ferrets. Here we investigated the pathophysiological mechanisms underlying the formation of LGH using our TD ferrets...
January 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29321232/hypermyelination-of-the-left-auditory-cortex-in-developmental-dyslexia
#13
Michael A Skeide, Pierre-Louis Bazin, Robert Trampel, Andreas Schäfer, Claudia Männel, Katharina von Kriegstein, Angela D Friederici
OBJECTIVE: Cortical malformations are documented postmortem in speech processing areas of the dyslexic human brain. The goal of this pilot study was to find out if such anatomic anomalies can be detected noninvasively and in vivo. METHODS: We developed a reconstruction of left perisylvian cortex profiles at a resolution of 400 μm using T1 data acquired with ultra-high-field MRI at 7T. Cortical thickness, myelinated cortical thickness, and layer-wise myelination were then compared in 6 men with developmental dyslexia and 6 healthy controls matched for age, sex, handedness, education level, and nonverbal IQ...
January 10, 2018: Neurology
https://www.readbyqxmd.com/read/29320740/plexina2-forward-signaling-through-rap1-gtpases-regulates-dentate-gyrus-development-and-schizophrenia-like-behaviors
#14
Xiao-Feng Zhao, Rafi Kohen, Rachel Parent, Yuntao Duan, Grace L Fisher, Matthew J Korn, Lingchao Ji, Guoqiang Wan, Jing Jin, Andreas W Püschel, David F Dolan, Jack M Parent, Gabriel Corfas, Geoffrey G Murphy, Roman J Giger
Dentate gyrus (DG) development requires specification of granule cell (GC) progenitors in the hippocampal neuroepithelium, as well as their proliferation and migration into the primordial DG. We identify the Plexin family members Plxna2 and Plxna4 as important regulators of DG development. Distribution of immature GCs is regulated by Sema5A signaling through PlxnA2 and requires a functional PlxnA2 GTPase-activating protein (GAP) domain and Rap1 small GTPases. In adult Plxna2-/- but not Plxna2-GAP-deficient mice, the dentate GC layer is severely malformed, neurogenesis is compromised, and mossy fibers form aberrant synaptic boutons within CA3...
January 9, 2018: Cell Reports
https://www.readbyqxmd.com/read/29311744/mutations-in-vps15-perturb-neuronal-migration-in-mice-and-are-associated-with-neurodevelopmental-disease-in-humans
#15
Thomas Gstrein, Andrew Edwards, Anna Přistoupilová, Ines Leca, Martin Breuss, Sandra Pilat-Carotta, Andi H Hansen, Ratna Tripathy, Anna K Traunbauer, Tobias Hochstoeger, Gavril Rosoklija, Marco Repic, Lukas Landler, Viktor Stránecký, Gerhard Dürnberger, Thomas M Keane, Johannes Zuber, David J Adams, Jonathan Flint, Tomas Honzik, Marta Gut, Sergi Beltran, Karl Mechtler, Elliott Sherr, Stanislav Kmoch, Ivo Gut, David A Keays
The formation of the vertebrate brain requires the generation, migration, differentiation and survival of neurons. Genetic mutations that perturb these critical cellular events can result in malformations of the telencephalon, providing a molecular window into brain development. Here we report the identification of an N-ethyl-N-nitrosourea-induced mouse mutant characterized by a fractured hippocampal pyramidal cell layer, attributable to defects in neuronal migration. We show that this is caused by a hypomorphic mutation in Vps15 that perturbs endosomal-lysosomal trafficking and autophagy, resulting in an upregulation of Nischarin, which inhibits Pak1 signaling...
January 8, 2018: Nature Neuroscience
https://www.readbyqxmd.com/read/29307022/fluorescein-videoangiography-during-extracranial-to-intracranial-bypass-surgery-preliminary-results
#16
Alessandro Narducci, Julia Onken, Marcus Czabanka, Nils Hecht, Peter Vajkoczy
BACKGROUND: Over the last years, intraoperative use of fluorescein is gaining ground in the field of neurosurgery, due to development of a microscope-integrated YELLOW 560 module, with reported experiences in brain malignancies, aneurysms, and arteriovenous malformation surgery. The aim of this study is to determine the feasibility and value of fluorescein videoangiography during bypass procedures. METHODS: The authors enrolled 11 patients who underwent extracranial-to-intracranial bypass for moyamoya disease, atherosclerotic steno-occlusive cerebrovascular disease, and flow replacement during a giant middle cerebral artery (MCA) aneurysm treatment...
January 6, 2018: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29303444/reductions-in-brain-pericytes-are-associated-with-arteriovenous-malformation-vascular-instability
#17
Ethan A Winkler, Harjus Birk, Jan-Karl Burkhardt, Xiaolin Chen, John K Yue, Diana Guo, W Caleb Rutledge, George F Lasker, Carlene Partow, Tarik Tihan, Edward F Chang, Hua Su, Helen Kim, Brian P Walcott, Michael T Lawton
OBJECTIVE Brain arteriovenous malformations (bAVMs) are rupture-prone tangles of blood vessels with direct shunting of blood flow between arterial and venous circulations. The molecular and/or cellular mechanisms contributing to bAVM pathogenesis and/or destabilization in sporadic lesions have remained elusive. Initial insights into AVM formation have been gained through models of genetic AVM syndromes. And while many studies have focused on endothelial cells, the contributions of other vascular cell types have yet to be systematically studied...
January 5, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29302567/a-rare-case-of-schizencephaly-in-an-adult-with-late-presentation
#18
Vijaya Kamble, Amol Madanlal Lahoti, Avinash Dhok, Abhijeet Taori, Nilufer Pajnigara
Schizencephaly, i.e., split brain, is a rare, congenital cerebral malformation. Magnetic resonance imaging is the best neuroimaging modality for its diagnosis. In literature, only few cases have been reported causing symptoms in adults. Symptomatic patients present as hemiparesis, developmental deficits to seizures. This condition is usually found at birth and presents during early years. Appropriate diagnosis of the disease is necessary to avoid incorrect treatment. Here, we present a rare case of left, unilateral, open lip schizencephaly in an adult patient presenting with partial seizures but with an asymptomatic childhood...
April 2017: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/29298944/neuronal-migration-disorders
#19
Benjamin Roberts
Enhanced understanding of brain development has led to increased awareness of the links between disorders of neuronal migration and seizure disorders. A significant number of patients with intractable epilepsy have cortical malformations that originated during neuronal migration. Magnetic resonance imaging plays a primary role in the diagnosis and classification of neuronal migration disorders. These disorders include polymicrogyria, schizencephaly, lissencephaly, heterotopia, and focal cortical dysplasia. Imaging protocols continue to evolve to provide critical assessment of anatomic and physiologic traits of these disorders to better treat and prevent seizures...
January 2018: Radiologic Technology
https://www.readbyqxmd.com/read/29298116/somatic-activating-kras-mutations-in-arteriovenous-malformations-of-the-brain
#20
Sergey I Nikolaev, Sandra Vetiska, Ximena Bonilla, Emilie Boudreau, Suvi Jauhiainen, Behnam Rezai Jahromi, Nadiya Khyzha, Peter V DiStefano, Santeri Suutarinen, Tim-Rasmus Kiehl, Vitor Mendes Pereira, Alexander M Herman, Timo Krings, Hugo Andrade-Barazarte, Takyee Tung, Taufik Valiante, Gelareh Zadeh, Mike Tymianski, Tuomas Rauramaa, Seppo Ylä-Herttuala, Joshua D Wythe, Stylianos E Antonarakis, Juhana Frösen, Jason E Fish, Ivan Radovanovic
BACKGROUND: Sporadic arteriovenous malformations of the brain, which are morphologically abnormal connections between arteries and veins in the brain vasculature, are a leading cause of hemorrhagic stroke in young adults and children. The genetic cause of this rare focal disorder is unknown. METHODS: We analyzed tissue and blood samples from patients with arteriovenous malformations of the brain to detect somatic mutations. We performed exome DNA sequencing of tissue samples of arteriovenous malformations of the brain from 26 patients in the main study group and of paired blood samples from 17 of those patients...
January 18, 2018: New England Journal of Medicine
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