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Brain malformations

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https://www.readbyqxmd.com/read/28635373/relative-risk-of-hemorrhage-during-pregnancy-in-patients-with-brain-arteriovenous-malformations
#1
Janneke van Beijnum, Tim Wilkinson, Heather J Whitaker, Johanna G van der Bom, Ale Algra, W Peter Vandertop, René van den Berg, Patrick A Brouwer, Gabriël Je Rinkel, L Jaap Kappelle, Rustam Al-Shahi Salman, Catharina Jm Klijn
Background It is unclear whether the risk of bleeding from brain arteriovenous malformations is higher during pregnancy, delivery, or puerperium. We compared occurrence of brain arteriovenous malformation hemorrhage in women during this period with occurrence of hemorrhage outside this period during their fertile years. Methods We included all women with ruptured brain arteriovenous malformations (16-41 years) from a retrospective database of patients with brain arteriovenous malformations in four Dutch university hospitals (n = 95) and from the population-based Scottish Audit of Intracranial Vascular Malformations (n = 44)...
January 1, 2017: International Journal of Stroke: Official Journal of the International Stroke Society
https://www.readbyqxmd.com/read/28626825/phace-s-syndrome-report-of-a-case-with-new-ocular-and-systemic-manifestations
#2
Raheleh Assari, Vahid Ziaee, Sasan Moghimi, Mohammad Reza Akbari, Arash Mirmohammadsadeghi
PURPOSE: To describe an infant with PHACE(S) syndrome [posterior fossa anomalies (P), hemangiomas (H), arterial anomalies (A), cardiac abnormalities and coarctation of aorta (C), eye abnormalities (E), and the sternal defects (S)] with unusual strabismus, congenital glaucoma, and new systemic manifestations. METHODS: A 6-month-old girl was referred with large hemangiomas on the left side of the face. RESULTS: In the ocular examination, right esotropia and hypotropia, and limitation of elevation in adduction in the right eye were seen...
June 2017: Journal of Current Ophthalmology
https://www.readbyqxmd.com/read/28625906/the-impact-of-associated-nidal-lesions-in-outcome-of-brain-arteriovenous-malformations-after-radiosurgery-with-or-without-embolization
#3
Carlos Michel A Peres, Evandro Cesar de Souza, Manoel Jacobsen Teixeira, Eberval G Figueiredo, Jose Guilherme M P Caldas
BACKGROUND: Radiosurgery is a valuable option to treat arteriovenous malformations. There are correlations between some morphological nidal features and final results, and the benefits of preradiosurgical embolization have not been well established thus far. METHODS: Analysis of a longitudinal cohort of 47 consecutive patients who underwent radiosurgery with or without previous embolization. Embolizations were performed exclusively with n-butyl cyanoacrylate. Radiosurgery was delivered either as a single or divided in up to 5 equal fractions...
June 15, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28625504/mutations-in-armc9-which-encodes-a-basal-body-protein-cause-joubert-syndrome-in-humans-and-ciliopathy-phenotypes-in-zebrafish
#4
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Ranad Shaheen, Jennifer C Dempsey, Sateesh Maddirevula, Yong-Han H Cheng, Ian G Phelps, Matthias Gesemann, Himanshu Goel, Ohad S Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O Khan, Michael J Bamshad, Deborah A Nickerson, Stephan C F Neuhauss, William B Dobyns, Fowzan S Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown...
June 14, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28623672/craniosynostosis-recognition-clinical-characteristics-and-treatment
#5
REVIEW
Nina Kajdic, Peter Spazzapan, Tomaz Velnar
Craniosynostosis is a developmental craniofacial anomaly, resulting in impairment of brain development and abnormally shaped skull. The main cause of craniosynostosis is premature closure of one or more cranial sutures. It usually occurs as an isolated condition, but may also be associated with other malformations as part of complex syndromes. When left untreated, craniosynostosis can cause serious complications, such as developmental delay, facial abnormality, sensory, respiratory and neurological dysfunction, anomalies affecting the eye, and psychological disturbances...
June 17, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28622418/severe-apparently-isolated-fetal-ventriculomegaly-and-neurodevelopmental-outcome
#6
Mathilde Letouzey, Alexandra Chadie, Marie Brasseur-Daudruy, François Proust, Eric Verspyck, Pascal Boileau, Stéphane Marret
OBJECTIVE: To assess the neurodevelopmental outcome of children with a prenatal diagnosis of apparently isolated severe ventriculomegaly (SVM). METHOD: Retrospective cohort study from 1994 to 2011. We included fetuses with unilateral or bilateral ventriculomegaly equal to or greater than 15 mm at prenatal ultrasound and confirmed by Magnetic Resonance Imaging, whose parents chose continuation of pregnancy past 22 weeks, and with no associated findings at diagnosis (i...
June 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28622071/survival-in-out-of-hospital-rapid-sequence-intubation-of-non-traumatic-brain-pathologies
#7
Pieter Francsois Fouche, Paul Andrew Jennings, Karen Smith, Malcolm Boyle, Gabriel Blecher, Jonathan Knott, Mani Raji, Pamela Rosengarten, Michael Roberto Augello, Stephen Bernard
INTRODUCTION: Rapid sequence intubation (RSI) is not only used in traumatic brain injuries in the out-of-hospital setting, but also for non-traumatic brain pathologies (NTBP) such as brain tumors, meningitis, encephalitis, hypoxic/anoxic brain injury, stroke, arteriovenous malformations, tumors, aneurysms, brain hemorrhage, as well as brain injury due to diabetes, seizures and toxicity, metabolic conditions, and alcohol and drug overdose. Previous research suggests that RSI is common in non-traumatic coma, but with an unknown prevalence of NTBP in those that receive RSI...
June 16, 2017: Prehospital Emergency Care
https://www.readbyqxmd.com/read/28612638/should-isolated-fetal-ventriculomegaly-measured-below-12%C3%A2-mm-be-viewed-as-a-variant-of-the-norm-results-of-a-5-year-experience-in-a-prenatal-referral-center
#8
Anaïs Lavongtheung, Guillaume Jedraszak, Philippe Naepels, Pierre Tourneux, Catherine Gondry-Jouet, Anne-Gaëlle L E Moing, Jean Gondry, Julien Chevreau
BACKGROUND: Fetal ventriculomegaly (VM) is defined as lateral ventricles measured above 10 mm. Some authors believe VM < 12 mm are variants of the norm and needn't be addressed for referral ultrasound. METHODS: A retrospective continuous cohort study of 127 confirmed fetal VM was divided in 3 groups after initial referral sonographic assessment: isolated VM < 12 mm (group A), isolated VM ≥ 12 mm (group B), and VM associated with other malformations (group C)...
June 14, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28608633/asymptomatic-pulmonary-arteriovenous-malformations-in-children-with-hereditary-hemorrhagic-telangiectasia
#9
Ashley M Gefen, Andrew J White
BACKGROUND: Children with Hereditary Hemorrhagic Telangiectasia (HHT) may have pulmonary arteriovenous malformations (AVMs), which can lead to symptoms of shortness of breath, exercise intolerance, clubbing, cyanosis and hemoptysis. However, some patients with pulmonary AVMs may be asymptomatic, placing them at risk for complications such as stroke or brain abscess if they are not identified and treated. This study examines the incidence of signs and symptoms associated with pulmonary AVMs in children with HHT known to have pulmonary AVMs...
June 13, 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28608353/-causes-of-hospital-mortality-due-to-brain-haemorrhage-in-patients-with-arteriovenous-malformation
#10
J Vilalta, F Arikan, R Torne, R Najarro, D Lopez, A Rodriguez-Hernandez, D Gandara, P Banos
AIM: To determine the causes of mortality in cases of brain haemorrhage among patients with arteriovenous malformations (AVM) treated in a tertiary hospital. PATIENTS AND METHODS: The patients with AVM who died over the period 1990-2014 were selected from a prospective register of vascular malformations. Demographic aspects, localisation of the AVM, associated aneurysms and previous treatments were reviewed. Three main causes of death were established: initial bleeding/rebleeding, those related with the treatment of the AVM and other causes not related with AVM...
June 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28607828/a-rare-association-of-ganglioglioma-and-cavernous-malformation-report-of-two-cases-and-literature-review
#11
Biagio R Carangelo, Giovanni Muscas, Clelia Miracco, Vitaliano F Muzii
BACKGROUND: Some glial tumors have been observed in association with different types of vascular malformations of the brain (angiogliomas). However, the association of ganglioglioma with other vascular malformations is extremely rare, with only few cases reported in the literature, one of which is referred to as "angioganglioglioma." CASE DESCRIPTION: Two patients presented with acute onset of neurological symptoms, with magnetic resonance imaging (MRI) finding of cavernoma of the left middle cerebellar penduncle, and small mass of the chiasmatic region, respectively...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28606752/how-does-the-interaction-of-presumed-timing-location-and-extent-of-the-underlying-brain-lesion-relate-to-upper-limb-function-in-children-with-unilateral-cerebral-palsy
#12
Lisa Mailleux, Katrijn Klingels, Simona Fiori, Cristina Simon-Martinez, Philippe Demaerel, Marlies Locus, Eva Fosseprez, Roslyn N Boyd, Andrea Guzzetta, Els Ortibus, Hilde Feys
BACKGROUND: Upper limb (UL) function in children with unilateral cerebral palsy (CP) vary largely depending on presumed timing, location and extent of brain lesions. These factors might exhibit a complex interaction and the combined prognostic value warrants further investigation. This study aimed to map lesion location and extent and assessed whether these differ according to presumed lesion timing and to determine the impact of structural brain damage on UL function within different lesion timing groups...
May 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28604469/case-report-of-cardiac-arrest-after-succinylcholine-in-a-child-with-muscle-eye-brain-disease
#13
Thomas Hackmann, David L Skidmore, Brian MacManus
Muscle-eye-brain disease is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and brain malformation. We report an intraoperative hyperkalemic cardiac arrest following the administration of succinylcholine in a child with muscle-eye-brain disease. The disease was diagnosed only after this event. Our experience suggests that preoperative determinations of serum concentrations of lactate and creatine kinase may be useful if clinical signs consistent with myopathy are present...
June 8, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28603431/hereditary-hemorrhagic-telangiectasia-and-pregnancy-potential-adverse-events-and-pregnancy-outcomes
#14
REVIEW
Omar Bari, Philip R Cohen
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant condition with a prevalence of ~1 in 5,000 individuals. The pathophysiology of this condition centers on the lack of capillary beds between arterioles and venules, leading to direct contact between these vessels. This results in telangiectases on characteristic locations such as the face, fingers, mouth, and nasal mucosa. Visceral arteriovenous malformations (AVMs) are also observed in many patients, and these are most commonly seen in the brain, gastrointestinal tract, and lungs...
2017: International Journal of Women's Health
https://www.readbyqxmd.com/read/28602661/brain-arteriovenous-malformations-located-in-language-area-surgical-outcomes-and-risk-factors-for-postoperative-language-deficits
#15
Yuming Jiao, Fuxin Lin, Jun Wu, Hao Li, Xin Chen, Zhicen Li, Ji Ma, Yong Cao, Shuo Wang, Jizong Zhao
OBJECT: Case selection for surgical treatment of language area brain arteriovenous malformations (L-BAVMs) remains difficult. This study aimed to determine the surgical outcomes and risk factors for postoperative language deficits (LD) in patients with L-BAVMs. METHODS: Patients with L-BAVMs who underwent microsurgical resection between September 2012 and June 2016 were reviewed. All patients had undergone preoperative functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI)...
June 7, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28601171/a-practical-approach-to-supratentorial-brain-malformations-what-radiologists-should-know
#16
REVIEW
Edward Yang, Winnie C W Chu, Edward Y Lee
For general radiologists, congenital brain malformations pose substantial challenges in terms of recognition, description, and classification. This review describes a practical approach to imaging and classifying the most common supratentorial brain malformations. It begins with a discussion of embryology and optimal imaging technique and then summarizes distinguishing imaging features for several major categories of cerebral malformation, including holoprosencephaly, gray matter heterotopia, lissencephaly/pachygyria, focal cortical dysplasia, polymicrogyria, and cobblestone malformation...
July 2017: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/28600483/extending-the-indications-for-transvenous-approach-embolization-for-superficial-brain-arteriovenous-malformations
#17
Dinark Conceição Viana, Luis Henrique de Castro-Afonso, Guilherme Seizem Nakiri, Lucas Moretti Monsignore, Felipe Padovani Trivelato, Oscar Benedicto Colli, Daniel Giansante Abud
INTRODUCTION: Transarterial embolization is the standard endovascular treatment strategy for intracranial arteriovenous malformations (AVMs). The transvenous approach has been indicated for the embolization of deep AVMs meeting a set of strict eligibility criteria. The present study aims to assess the safety and efficacy of the transvenous approach for superficial AVMs. METHODS: A retrospective series of 12 patients presenting with cortical AVMs were treated by endovascular embolization using a transvenous approach with a curative intent...
June 9, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/28596193/mr-imaging-diagnosis-of-diencephalic-mesencephalic-junction-dysplasia-in-fetuses-with-developmental-ventriculomegaly
#18
M Severino, A Righini, D Tortora, L Pinelli, C Parazzini, G Morana, P Accorsi, V Capra, D Paladini, A Rossi
Diencephalic-mesencephalic junction dysplasia is a rare malformation characterized by a poorly defined junction between the diencephalon and the mesencephalon, associated with a characteristic butterfly-like contour of the midbrain (butterfly sign). This condition may be variably associated with other brain malformations, including callosal abnormalities and supratentorial ventricular dilation, and is a potential cause of developmental hydrocephalus. Here, we have reported 13 fetuses with second-trimester obstructive ventriculomegaly and MR features of diencephalic-mesencephalic junction dysplasia, correlating the fetal imaging with available pathology and/or postnatal data...
June 8, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28588230/characterization-of-developmental-defects-in-the-forebrain-resulting-from-hyperactivated-mtor-signaling-by-integrative-analysis-of-transcriptomic-and-proteomic-data
#19
Jiheon Shin, Minhyung Kim, Hee-Jung Jung, Hye Lim Cha, Haeyoung Suh-Kim, Sanghyun Ahn, Jaehoon Jung, YounAh Kim, Yukyung Jun, Sanghyuk Lee, Daehee Hwang, Jaesang Kim
Hyperactivated mTOR signaling in the developing brain has been implicated in multiple forms of pathology including tuberous sclerosis complex (TSC). To date, various phenotypic defects such as cortical lamination irregularity, subependymal nodule formation, dysmorphic astrocyte differentiation and dendritic malformation have been described for patients and animal models. However, downstream networks affected in the developing brain by hyperactivated mTOR signaling have yet to be characterized. Here, we present an integrated analysis of transcriptomes and proteomes generated from wild-type and Tsc1/Emx1-Cre forebrains...
June 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28583742/visual-and-motor-deficits-in-grown-up-mice-with-congenital-zika-virus-infection
#20
Liyuan Cui, Peng Zou, Er Chen, Hao Yao, Hao Zheng, Qian Wang, Jing-Ning Zhu, Shibo Jiang, Lu Lu, Jiayi Zhang
Human infants with congenital Zika virus (ZIKV) infection exhibit a range of symptoms including microcephaly, intracranial calcifications, macular atrophy and arthrogryposis. More importantly, prognosis data have lagged far behind the recent outbreak of ZIKV in 2015. In this work, we allow congenitally ZIKV-infected mice to grow into puberty. These mice exhibited motor incoordination and visual dysfunctions, which can be accounted by anatomical defects in the retina and cerebellar cortex. In contrary, anxiety level of the ZIKV-infected mice is normal...
April 24, 2017: EBioMedicine
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