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Cerebral vasculopathy

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28468844/space-and-location-of-cerebral-microbleeds-cognitive-decline-and-dementia-in-the-community
#10
Jie Ding, Sigurður Sigurðsson, Pálmi V Jónsson, Gudny Eiriksdottir, Osorio Meirelles, Olafur Kjartansson, Oscar L Lopez, Mark A van Buchem, Vilmundur Gudnason, Lenore J Launer
OBJECTIVE: To assess the association of the number and anatomic location of cerebral microbleeds (CMBs), visible indicators of microvascular damage on MRI, with incident cognitive disease in the general population of older people. METHODS: In the longitudinal population-based Age, Gene/Environment Susceptibility (AGES)-Reykjavik Study, 2,602 participants 66 to 93 years of age and free of prevalent dementia underwent brain MRI and cognitive testing of verbal memory, processing speed, and executive function at baseline and a mean of 5...
May 30, 2017: Neurology
https://www.readbyqxmd.com/read/28422438/moyamoya-syndrome-in-children-with-neurofibromatosis-type-1-italian-french-experience
#11
Claudia Santoro, Federico Di Rocco, Manoelle Kossorotoff, Michel Zerah, Nathalie Boddaert, Raphael Calmon, Dominique Vidaud, Mario Cirillo, Giuseppe Cinalli, Giuseppe Mirone, Teresa Giugliano, Giulio Piluso, Alessandra D'Amico, Valeria Capra, Marco Pavanello, Armando Cama, Bruno Nobili, Stanislas Lyonnet, Silverio Perrotta
Moyamoya syndrome (MMS) is the most common cerebral vasculopathy among children with neurofibromatosis type 1 (NF1). In this study, we clinically, radiologically, and genetically examined a cohort that was not previously described, comprising European children with NF1 and MMS. The NF1 genotyping had been registered. This study included 18 children. The mean age was 2.93 ± 3.03 years at the NF1 diagnosis and 7.43 ± 4.27 years at the MMS diagnosis. In seven patients, MMS was diagnosed before or at the same time as NF1...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28382307/cadasil-two-new-cases-with-intracerebral-hemorrhage
#12
Chen Zhang, Wei Li, Shaowu Li, Songtao Niu, Xingao Wang, Hefei Tang, Xueying Yu, Bin Chen, Yuzhi Shi, Qihua Chen, Liying Guo, Yunzhu Pan, Yilong Wang, Zaiqiang Zhang
Whether cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a risk factor for spontaneous intracerebral hemorrhage (ICH) and influences outcomes remains unclear. In this study, we report two cases of CADASIL presenting with cerebral hemorrhages. These cases suggest that a CADASIL vasculopathy by itself mainly results in ICH, as indicated by slight vascular risk factors and prominent neuroimaging abnormalities, suggesting that CADASIL should be considered a risk factor for ICH...
April 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28373376/teaching-neuroimages-hiv-associated-cerebral-vasculopathy-with-multiple-nodular-aneurysms
#13
Alexander Seiler, Se-Jong You, Marlies Wagner, Johannes C Klein
No abstract text is available yet for this article.
April 4, 2017: Neurology
https://www.readbyqxmd.com/read/28362411/continuous-manual-exchange-transfusion-for-patients-with-sickle-cell-disease-an-efficient-method-to-avoid-iron-overload
#14
Bérengère Koehl, Florence Missud, Laurent Holvoet, Ghislaine Ithier, Oliver Sakalian-Black, Zinedine Haouari, Emmanuelle Lesprit, André Baruchel, Malika Benkerrou
Children with sickle cell anemia (SCA) may be at risk of cerebral vasculopathy and strokes, which can be prevented by chronic transfusion programs. Repeated transfusions of packed red blood cells (PRBCs) is currently the simplest and most used technique for chronic transfusion programs. However, iron overload is one of the major side effects of this therapy. More developed methods exist, notably the apheresis of RBC (erythrapheresis), which is currently the safest and most efficient method. However, it is costly, complicated, and cannot be implemented everywhere, nor is it suitable for all patients...
March 14, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28347929/cerebral-microbleeds-and-risk-of-incident-dementia-the-framingham-heart-study
#15
José R Romero, Alexa Beiser, Jayandra J Himali, Ashkan Shoamanesh, Charles DeCarli, Sudha Seshadri
Cerebral microbleeds (CMBs) are MRI markers attributed to the most common cerebral angiopathies in the elderly and in patients with dementia: hypertensive and cerebral amyloid angiopathy. CMB detection in asymptomatic persons may help identify those at risk for dementia and may influence preventive strategies and design of clinical trials testing treatments for dementia. We studied the association of CMB with risk of incident dementia in community dwelling individuals. A total of 1296 dementia-free Framingham Heart Study participants (mean age 72 years; 54% women) with available brain MRI and incident dementia data during a mean follow-up period of 6...
June 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28335992/varicella-zoster-virus-vasculopathy-the-expanding-clinical-spectrum-and-pathogenesis
#16
REVIEW
Maria A Nagel, Dallas Jones, Ann Wyborny
Varicella zoster virus (VZV) is a ubiquitous, human alphaherpesvirus that produces varicella on primary infection then becomes latent in ganglionic neurons along the entire neuraxis. In elderly and immunocompromised individuals, VZV reactivates and travels along nerve fibers peripherally resulting in zoster. However, VZV can also spread centrally and infect cerebral and extracranial arteries (VZV vasculopathy) to produce transient ischemic attacks, stroke, aneurysm, sinus thrombosis and giant cell arteritis, as well as granulomatous aortitis...
July 15, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28325644/dnase-active-trex1-frame-shift-mutants-induce-serologic-autoimmunity-in-mice
#17
Tomomi Sakai, Takuya Miyazaki, Dong-Mi Shin, Yong-Soo Kim, Chen-Feng Qi, Robert Fariss, Jeeva Munasinghe, Hongsheng Wang, Alexander L Kovalchuk, Parul H Kothari, Charles S Fermaintt, John P Atkinson, Fred W Perrino, Nan Yan, Herbert C Morse
TREX1/DNASE III, the most abundant 3'-5' DNA exonuclease in mammalian cells, is tail-anchored on the endoplasmic reticulum (ER). Mutations at the N-terminus affecting TREX1 DNase activity are associated with autoimmune and inflammatory conditions such as Aicardi-Goutières syndrome (AGS). Mutations in the C-terminus of TREX1 cause loss of localization to the ER and dysregulation of oligosaccharyltransferase (OST) activity, and are associated with retinal vasculopathy with cerebral leukodystrophy (RVCL) and in some cases with systemic lupus erythematosus (SLE)...
July 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28314885/adverse-effects-of-levamisole-in-cocaine-users-a-review-and-risk-assessment
#18
REVIEW
Tibor Markus Brunt, Jorrit van den Berg, Ed Pennings, Bastiaan Venhuis
The immunomodulatory adjuvant and antihelminth levamisole is increasingly used as an adulterant in cocaine worldwide. An accumulating body of clinical and toxicological literature has appeared since 2010 describing neutropenia, agranulocytosis, leukoencephalopathy and vasculitis in cases associated with levamisole-adulterated cocaine. Mostly, neutropenia and agranulocytosis were reported, characterized by a decimation of neutrophils. A large proportion of cases also involved vasculopathy, characterized by pronounced black and purple skin purpura with cutaneous necrosis...
March 17, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28293402/treosulfan-based-conditioning-regimen-in-sibling-and-alternative-donor-hematopoietic-stem-cell-transplantation-for-children-with-sickle-cell-disease
#19
Antonio Marzollo, Elisabetta Calore, Manuela Tumino, Marta Pillon, Maria Vittoria Gazzola, Roberta Destro, Raffaella Colombatti, Piero Marson, Tiziana Tison, Anna Colpo, Chiara Mainardi, Maria Gabelli, Maria Paola Boaro, Sara Rossin, Aurora Strano, Nadia Quaglia, Federica Menzato, Giuseppe Basso, Laura Sainati, Chiara Messina
BACKGROUND AND OBJECTIVES: Lack of suitable donors and regimen related toxicity are major barriers for hematopoietic stem cell transplantation (HSCT) in patients with sickle cell disease (SCD). The aim of the study is the assessment of efficacy and toxicity of Treosulfan-based conditioning regimen for SCD also when alternative donors such as mismatched unrelated donor and haploidentical donor are employed. METHODS: We report our single-center experience: 11 patients with SCD received HSCT with a Treosulfan/Thiotepa/Fludarabine/Anti-thymoglobulin conditioning regimen between 2010 and 2015...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28289923/tocilizumab-reverses-cerebral-vasculopathy-in-a-patient-with-homozygous-samhd1-mutation
#20
REVIEW
Michael Henrickson, Heng Wang
An auto-inflammatory syndrome consequent to SAMHD1 mutations involves cerebral vasculopathy characterized by multifocal stenosis and aneurysms within large arteries, moyamoya, chronic ischemia, and early-onset strokes (SAMS). While this condition involves the innate immune system, additional clinical features mimic systemic lupus erythematosus. Mutations in this gene can also cause a subset of the rare genetic condition Aicardi-Goutières syndrome. To date, no established therapy successfully prevents disease progression...
June 2017: Clinical Rheumatology
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