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Cerebral vasculopathy

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https://www.readbyqxmd.com/read/28925802/higher-prevalence-of-spontaneous-cerebral-vasculopathy-and-cerebral-infarcts-in-a-mouse-model-of-sickle-cell-disease
#1
Hyacinth I Hyacinth, Courtney L Sugihara, Thomas L Spencer, David R Archer, Andy Y Shih
Stroke is a dramatic complication of sickle cell disease (SCD), which is associated with cerebral vasculopathies including moya moya, intravascular thrombi, cerebral hyperemia, and increased vessel tortuosity. The spontaneous occurrence of these pathologies in the sickle cell mouse model has not been described. Here, we studied Townes humanized sickle cell and age-matched control mice that were 13 months old. We used in vivo two-photon microscopy to assess blood flow dynamics, vascular topology, and evidence of cerebral vasculopathy...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28921308/pregnancy-and-delivery-in-moyamoya-vasculopathy-experience-of-a-single-european-institution
#2
Güliz Acker, Marcus Czabanka, Peter Schmiedek, Peter Vajkoczy
Moyamoya vasculopathy (MMV) is a stenoocclusive cerebrovascular disease frequently affecting adolescent females. Thus, the management of pregnancy is of major interest for physicians dealing with MMV patients. However, clinical data concerning pregnant MMV patients is lacking. Our aim was to analyze the course of pregnancy in our European MMV patient cohort. We retrospectively identified MMV patients with a history of pregnancy who were treated in our institution. We analyzed demographic data, clinical symptoms, treatment, and detailed history of pregnancies...
September 18, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28919362/a-homozygote-trex1-mutation-in-two-siblings-with-different-phenotypes-chilblains-and-cerebral-vasculitis
#3
Rabia Miray Kisla Ekinci, Sibel Balci, Atil Bisgin, Derya Ufuk Altintas, Mustafa Yılmaz
Three prime repair exonuclease 1 degrades single and double stranded DNA with 3'-5' nuclease activity and its mutations are related to type 1 IFN mediated autoinflammation due to accumulated intracellular nucleic acids. To date, several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome, familial chilblain lupus, retinal vasculopathy-cerebral leukodystrophy have been reported with TREX1 mutations. Chilblain lupus is a skin disease characterized by blue-reddish coloring, swelling or ulcers on acral regions of body such as fingertips, heels, nose and auricles...
September 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28915130/dolichoectasia-of-vertebrobasilar-arteries-as-a-cause-of-hydrocephalus-and-ischemic-cerebral-stroke
#4
Miodrag Zdravković, Milos Kostov, Sladjana Petrovic, Jovana Zdravkovic
INTRODUCTION: Dolichoectasia of vertebrobasilar artery is a rare vasculopathy, which is characterized by ectasia, elongation, and tortuosity of the basilar artery. CASE DESCRIPTION: A 85-year-old man was referred to the Clinic of Neurology with sudden-onset coma. A brain computed tomography scan showed remarkable fusiform dilatation with elongation of basilar artery, with compressive effect on brain stem. Autopsy confirmed existence of vertebrobasilar dolichoectasia, with organized old thrombus and partially with recent occlusive thrombosis...
September 14, 2017: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/28893009/intracranial-aneurysms-involving-circle-of-willis-in-a-child-with-human-immunodeficiency-virus-associated-vasculitis-a-rare-case-report
#5
Amol Madanlal Lahoti, Abhijit Kishor Taori, Avinash Parashuram Dhok, Jitesh Subhash Rawat, Nihar Umakant Chandak
Intracranial Arterial Aneurysms (IAAs) are relatively rare in paediatric population and they account for at least 10%-15% of haemorrhagic strokes which occur during the first two decades of life. Here we present a unique and unusual case of Human Immunodeficiency Virus (HIV) infected child who presented with intracranial aneurysms with formation of collaterals and vasculopathy, demonstrating low viral count despite receiving adequate antiretroviral treatment. Intracranial vascular involvement, their complications and its incidence in these patients may become increasingly common as the management of human immunodeficiency virus infection continues to improve and afflicted patients survive for longer periods because of advancement in the antiretroviral treatment...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28867358/radiation-induced-large-vessel-cerebral-vasculopathy-in-pediatric-patients-with-brain-tumors-treated-with-proton-radiation-therapy
#6
Stephen F Kralik, Gordon A Watson, Chie-Schin Shih, Chang Y Ho, Whitney Finke, Jeffrey Buchsbaum
PURPOSE: The purpose of this research was to evaluate the incidence, time to development, imaging patterns, risk factors, and clinical significance of large vessel cerebral vasculopathy in pediatric patients with brain tumors treated with proton radiation therapy. METHODS AND MATERIALS: A retrospective study was performed on 75 consecutive pediatric patients with primary brain tumors treated with proton radiation therapy. Radiation-induced large vessel cerebral vasculopathy (RLVCV) was defined as intracranial large vessel arterial stenosis or occlusion confirmed on magnetic resonance angiography, computed tomographic angiography, catheter angiography, or a combination of these within an anatomic region with previous exposure to proton beam therapy and not present before radiation therapy...
July 12, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/28856460/late-onset-pompe-disease-a-genetic-radiological-correlation-on-cerebral-vascular-anomalies
#7
A Pichiecchio, S Sacco, P De Filippi, E Caverzasi, S Ravaglia, S Bastianello, C Danesino
Pompe disease is an autosomal recessive disorder in which deficiency of the lysosomal enzyme acid alpha-glucosidase results in the accumulation of glycogen mostly in muscle tissues. Several reports suggest a higher incidence of intracranial vascular abnormalities (IVAs) in this condition, as well as brain microbleeds and cerebral vasculopathy. The aim of our study was to evaluate through neuroimaging studies the incidence of these anomalies in our cohort of late-onset Pompe disease (LOPD) patients asymptomatic for cerebrovascular disease, looking for correlations with clinical and genetic data...
August 30, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28837721/visual-function-in-asymptomatic-patients-with-homozygous-sickle-cell-disease-and-temporal-macular-atrophy
#8
Gilles C Martin, Charlotte Dénier, Olivia Zambrowski, David Grévent, Lenaïc Bruère, Valentine Brousse, Mariane de Montalembert, Dominique Brémond-Gignac, Matthieu P Robert
Importance: Temporal macular involvement in sickle cell disease can now easily be detected by optical coherence tomography (OCT). However, while recent studies have demonstrated its high prevalence, little is known about its potential consequences on visual function. Objective: To assess the visual function of patients with sickle cell disease with no visual symptoms despite temporal macular atrophy. Design, Setting, and Participants: This retrospective case series included data collection and explorations made in a single referral center for sickle cell disease in 2016...
August 24, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28821470/design-of-the-drepagreffe-trial-a-prospective-controlled-multicenter-study-evaluating-the-benefit-of-genoidentical-hematopoietic-stem-cell-transplantation-over-chronic-transfusion-in-sickle-cell-anemia-children-detected-to-be-at-risk-of-stroke-by-transcranial
#9
Sylvie Chevret, Suzanne Verlhac, Elisabeth Ducros-Miralles, Jean-Hugues Dalle, Regis Peffault de Latour, Mariane de Montalembert, Malika Benkerrou, Corinne Pondarré, Isabelle Thuret, Corinne Guitton, Emmanuelle Lesprit, Maryse Etienne-Julan, Gisèle Elana, Jean-Pierre Vannier, Patrick Lutz, Bénédicte Neven, Claire Galambrun, Catherine Paillard, Camille Runel, Charlotte Jubert, Cécile Arnaud, Annie Kamdem, Valentine Brousse, Florence Missud, Marie Petras, Lydia Doumdo-Divialle, Claire Berger, Françoise Fréard, Olivier Taieb, Elise Drain, Monique Elmaleh, Manuela Vasile, Yacine Khelif, Myriam Bernaudin, Philippe Chadebech, France Pirenne, Gérard Socié, Françoise Bernaudin
BACKGROUND: Children with sickle cell anemia (SCA) have an 11% risk of stroke by the age of 18. Chronic transfusion applied in patients detected to be at risk by transcranial Doppler allows a significant reduction of stroke risk. However, chronic transfusion exposes to several adverse events, including alloimmunization and iron overload, and is not curative. Hematopoietic stem cell transplantation allows termination of the transfusion program, but its benefit has not been demonstrated...
August 15, 2017: Contemporary Clinical Trials
https://www.readbyqxmd.com/read/28780405/malignant-cerebral-swelling-after-cranioplasty-due-to-ipsilateral-intracranial-vasculopathy-case-report-and-literature-review
#10
Bo Chen, Wenchen Li, Lixiang Zhou, Shuanglin Fu, Haifeng Wang, Shuyan Zhang
BACKGROUND: Cranioplasty is a well-established surgical operation that is used worldwide for skull defect patients following decompressive craniectomy (DC). However, especially in some cases, fatal complications such as malignant cerebral swelling after uneventful cranioplasty should be attended to. CASE DESCRIPTION: We present a rare case of massive malignant ipsilateral cerebral swelling following uneventful titanium mesh cranioplasty due to rare ipsilateral intracranial vasculopathy confirmed by magnetic resonance angiography and magnetic resonance venography (MRA and MRV)...
August 2, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28747064/graph-lasso-based-test-for-evaluating-functional-brain-connectivity-in-sickle-cell-disease
#11
Julie Coloigner, Ronald Phlypo, Thomas D Coates, Natasha Lepore, John C Wood
Sickle cell disease (SCD) is a vascular disorder that is often associated with recurrent ischemia-reperfusion injury, anemia, vasculopathy, and strokes. These cerebral injuries are associated with neurological dysfunction, limiting the full developing potential of the patient. However, recent large studies of SCD have demonstrated that cognitive impairment occurs even in the absence of brain abnormalities on conventional magnetic resonance imaging (MRI). These observations support an emerging consensus that brain injury in SCD is diffuse and that conventional neuroimaging often underestimates the extent of injury...
September 2017: Brain Connectivity
https://www.readbyqxmd.com/read/28729429/brain-perfusion-imaging-under-acetazolamide-challenge-for-detection-of-impaired-cerebrovascular-reserve-capacity-positive-findings-with-o-15-water-pet-in-patients-with-negative-tc-99m-hmpao-spect
#12
Güliz Acker, Catharina Lange, Imke Schatka, Andreas Pfeifer, Marcus A Czabanka, Peter Vajkoczy, Ralph Buchert
Cerebrovascular reserve capacity (CVRC) is an important parameter for treatment decisions in chronic cerebrovascular diseases. It can be assessed by measuring the acetazolamide-induced change of regional cerebral blood flow using single photon emission computed tomography (SPECT) with Tc-99m-labeled hexamethylpropyleneamine oxime (HMPAO) or positron emission tomography (PET) with O-15-water. Methods: Our database was searched for patients with moyamoya vasculopathy (MMV) or atherosclerotic cerebrovascular disease who had underwent O-15-water PET after normal Tc-99m-HMPAO SPECT with respect to CVRC...
July 20, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/28686325/rnf213-variants-in-a-child-with-phace-syndrome-and-moyamoya-vasculopathy
#13
Kala F Schilter, Jack E Steiner, Wendy Demos, Mohit Maheshwari, Jeremy W Prokop, Elizabeth Worthey, Beth A Drolet, Dawn H Siegel
Segmental infantile hemangiomas (IH) can be associated with congenital anomalies in a regional distribution. PHACE refers to large cervicofacial segmental IH in association with congenital anomalies of the aortic arch and medium-sized arteries of the head and neck, as well as structural anomalies of the posterior fossa and eye. A subset of PHACE patients have arterial anomalies that progress to moyamoya vasculopathy (MMV). MMV is defined as stenosis of the supraclinoid segment of the internal carotid arteries and/or their major branches, with subsequent development of a compensatory collateral vessel network...
July 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28670947/genetic-background-of-the-sickle-cell-disease-pediatric-population-of-dakar-senegal-and-characterization-of-a-novel-frameshift-%C3%AE-thalassemia-mutation-hbb-c-265_266del-p-leu89glufs-2
#14
Fatou Gueye Tall, Cyril Martin, El Hadji Malick Ndour, Indou Déme Ly, Céline Renoux, Louis Chillotti, Nicolas Veyrenche, Philippe Connes, Papa Madieye Gueye, Rokhaya Ndiaye Diallo, Philippe Lacan, Ibrahima Diagne, Pape Amadou Diop, Aynina Cissé, Philomène Lopez Sall, Philippe Joly
Sickle cell disease is a genetic disorder with a large variability in the pattern and severity of clinical manifestations. Different genetic modulators have been identified but very few epidemiologic data are available on these modifier genes in Senegal. This study aimed to determine their prevalence in a Senegalese sickle cell disease pediatric population. The following genetic parameters were genotyped in 295 sickle cell disease children of the Dakar pediatric hospital: sickle cell disease genotype [β(S)/β(S) (HBB: c...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28600011/direct-versus-indirect-bypass-for-moyamoya-disease
#15
REVIEW
Jonathan J Liu, Gary K Steinberg
Moyamoya disease is a progressive occlusive vasculopathy that involves the supraclinoid internal carotid arteries and Circle of Willis, and results in the formation of collateral vessels at the skull base. The progressive nature of this disease leads to cerebral ischemia and sometimes intracerebral hemorrhage. The treatment of moyamoya disease is mainly surgical revascularization, using revascularization techniques that include direct, indirect, and combined strategies. Here we discuss the available options for revascularization as well as our opinions regarding the surgical management of patients with moyamoya disease...
July 2017: Neurosurgery Clinics of North America
https://www.readbyqxmd.com/read/28579187/functional-mri-bold-response-in-sickle-mice-with-hyperalgesia
#16
Ying Wang, Xiao Wang, Wei Chen, Kalpna Gupta, Xiao-Hong Zhu
Patients with sickle cell anemia (SCA) have abnormal hemoglobin (sickle hemoglobin S) leading to the crystallization of hemoglobin chains in red blood cells (RBCs), which assume sickle shape and display reduced flexibility. Sickle RBCs (sRBCs) adhere to vessel walls and block blood flow, thus preventing oxygen delivery to the tissues leading to vaso-occlusive crises (VOC), acute pain and organ damage. SCA patients often have chronic pain that can be attributed to inflammation, vasculopathy, neuropathy, ischemia-reperfusion injury and organ damage...
June 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28566939/variation-of-a-persistent-primitive-hypoglossal-artery-ppha-as-incidental-finding-in-the-diagnostic-clarification-of-cerebral-vasculopathy-associated-with-intracranial-vasculitis
#17
S Hopf-Jensen, L Marques, M Preiß, W Börm, S Müller-Hülsbeck
We present a very rare variation of a persistent primitive hypoglossal artery (PPHA) arising from the internal carotid artery, detected during a diagnostic angiography. A 50-year-old female patient was admitted with an atypical intracranial hematoma in the left frontal lobe. Catheter angiography revealed intracranial vasculopathy with segmental stenoses, a small aneurysm of the right internal carotid artery bifurcation and a "string of beads" appearance of the left carotid artery, consistent with fibromuscular disease...
June 2017: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
https://www.readbyqxmd.com/read/28549238/risk-factors-and-mechanisms-contributing-to-tki-induced-vascular-events-in-patients-with-cml
#18
REVIEW
Peter Valent, Emir Hadzijusufovic, Gregor Hoermann, Wolfgang Füreder, Gerit-Holger Schernthaner, Wolfgang R Sperr, Rudolf Kirchmair, Dominik Wolf
Vascular adverse events (VAE) are an emerging problem in patients with chronic myeloid leukemia (CML) receiving second-generation BCR-ABL1 tyrosine kinase inhibitors (TKI). Relevant VAE comprise peripheral, cerebral, and coronary artery changes in patients receiving nilotinib, venous and arterial occlusive events during ponatinib therapy, and pulmonary hypertension in patients receiving dasatinib. Although each TKI binds to a unique profile of molecular targets in leukemic cells and vascular cells, the exact etiology of drug-induced vasculopathies remains uncertain...
May 12, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28511631/reversible-cerebral-vasoconstriction-syndrome-in-pediatrics-a-case-series-and-review
#19
Samantha W Coffino, Robert H Fryer
Reversible cerebral vasoconstriction syndrome is a transient vasculopathy associated with severe headaches and stroke. In most cases of reversible cerebral vasoconstriction syndrome, there is a precipitating event or trigger, such as pregnancy, serotonin agonist treatment or illicit drug use. The authors present 2 pediatric cases of reversible cerebral vasoconstriction syndrome and review the previous 11 pediatric cases in the literature. In many instances, the clinical and radiographic features are similar in both pediatric and adult cases...
June 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28491814/varicella-zoster-virus-vzv-multifocal-vasculopathy-in-a-patient-with-systemic-lupus-erythematosus-a-diagnostic-and-treatment-dilemma
#20
Stephen Osiro, Nadim Salomon
Cerebral vasculopathy due to varicella-zoster virus (VZV) infection is well-documented. We report a fatal case of VZV multifocal vasculopathy in a patient with systemic lupus erythematosus (SLE) who presented with subacute changes in mental status and had multiple areas of hemorrhagic infarcts on brain imaging. However, the correct diagnosis was delayed by several confounding factors including the absence of zoster rash, normal cerebral angiography, persistently low cerebrospinal fluid (CSF) glucose and negative initial polymerase chain reaction (PCR) for VZV DNA in the CSF...
2017: IDCases
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