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https://www.readbyqxmd.com/read/28203683/identification-of-unique-venous-thromboembolism-susceptibility-variants-in-african-americans
#1
John A Heit, Sebastian M Armasu, Bryan M McCauley, Iftikhar J Kullo, Hugues Sicotte, Jyotishman Pathak, Christopher G Chute, Omri Gottesman, Erwin P Bottinger, Joshua C Denny, Dan M Roden, Rongling Li, Marylyn D Ritchie, Mariza de Andrade
To identify novel single nucleotide polymorphisms (SNPs) associated with venous thromboembolism (VTE) in African-Americans (AAs), we performed a genome-wide association study (GWAS) of VTE in AAs using the Electronic Medical Records and Genomics (eMERGE) Network, comprised of seven sites each with DNA biobanks (total ~39,200 unique DNA samples) with genome-wide SNP data (imputed to 1000 Genomes Project cosmopolitan reference panel) and linked to electronic health records (EHRs). Using a validated EHR-driven phenotype extraction algorithm, we identified VTE cases and controls and tested for an association between each SNP and VTE using unconditional logistic regression, adjusted for age, sex, stroke, site-platform combination and sickle cell risk genotype...
February 16, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28185829/a-systematic-review-of-the-literature-for-severity-predictors-in-children-with-sickle-cell-anemia
#2
Emily Riehm Meier, Ross M Fasano, Paul R Levett
All patients with HbSS (SCA) share the same genetic mutation but the clinical phenotype is variable and difficult to predict early in life. A reliable severity predictor would be invaluable toward directing therapeutic decisions in those patients at highest risk of SCA complications. A search of PubMed, Cochrane Clinical Trials Register, and Scopus was performed to determine which SCA severity predictors have been validated in pediatric patients. The full text of 94 of the 590 references identified was reviewed based on the title/abstract...
February 2, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28183857/coexistent-sickle-cell-disease-has-no-impact-on-the-safety-or-outcome-of-lytic-therapy-in-acute-ischemic-stroke-findings-from-get-with-the-guidelines-stroke
#3
Robert J Adams, Margueritte Cox, Shelly D Ozark, Julie Kanter, Phillip J Schulte, Ying Xian, Gregg C Fonarow, Eric E Smith, Lee H Schwamm
BACKGROUND AND PURPOSE: The recommended treatment for ischemic stroke is tPA (tissue-type plasminogen activator). Although sickle cell disease (SCD) represents no known contraindication to tPA, National Heart Lung and Blood Institute of the National Institutes of Health recommended acute exchange transfusion for stroke in SCD, not tPA. Data on safety and outcomes of tPA in patients are needed to guide tPA use in SCD. METHODS: We matched patients from the American Heart Association and American Stroke Association Get With The Guidelines-Stroke registry with SCD to patients without SCD and compared usage, complications, and discharge outcomes after tPA...
February 9, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28175446/198%C3%A2-effectiveness-of-surgical-revascularization-for-stroke-prevention-in-pediatric-patients-with-sickle-cell-disease-and-moyamoya-syndrome
#4
Wuyang Yang, Jose Luis Porras, Risheng Xu, Tomas Garzon-Muvdi, Justin M Caplan, Geoffrey P Colby, Alexander Lewis Coon, Rafael J Tamargo, Judy Huang, Edward Sanghoon Ahn
No abstract text is available yet for this article.
August 1, 2016: Neurosurgery
https://www.readbyqxmd.com/read/28159432/large-vessel-vasculopathy-in-children-with-sickle-cell-disease-a-magnetic-resonance-imaging-study-of-infarct-topography-and-focal-atrophy
#5
Kristin P Guilliams, Melanie E Fields, Dustin K Ragan, Yasheng Chen, Cihat Eldeniz, Monica L Hulbert, Michael M Binkley, James N Rhodes, Joshua S Shimony, Robert C McKinstry, Katie D Vo, Hongyu An, Jin-Moo Lee, Andria L Ford
BACKGROUND: Large-vessel vasculopathy (LVV) increases stroke risk in pediatric sickle cell disease beyond the baseline elevated stroke risk in this vulnerable population. The mechanisms underlying this added risk and its unique impact on the developing brain are not established. METHODS: We analyzed magnetic resonance imaging and angiography scans of 66 children with sickle cell disease and infarcts by infarct density heatmaps and Jacobian determinants, a metric utilized to delineate focal volume change, to investigate if infarct location, volume, frequency, and cerebral atrophy differed among hemispheres with and without LVV...
December 7, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28159390/sickle-cell-disease
#6
REVIEW
Russell E Ware, Mariane de Montalembert, Léon Tshilolo, Miguel R Abboud
Sickle cell disease is a common and life-threatening haematological disorder that affects millions of people worldwide. Abnormal sickle-shaped erythrocytes disrupt blood flow in small vessels, and this vaso-occlusion leads to distal tissue ischaemia and inflammation, with symptoms defining the acute painful sickle-cell crisis. Repeated sickling and ongoing haemolytic anaemia, even when subclinical, lead to parenchymal injury and chronic organ damage, causing substantial morbidity and early mortality. Currently available treatments are limited to transfusions and hydroxycarbamide, although stem cell transplantation might be a potentially curative therapy...
January 31, 2017: Lancet
https://www.readbyqxmd.com/read/28140625/ncaa-football-off-season-training-unanswered-prayers%C3%A2-a-prayer-answered
#7
Scott Anderson
Off-season training in year-round collegiate football is purported to be performance enhancing. Absent principles of exercise physiology, excesses in sport-training regimens pose risk to the participant athletes. Since 2000, 32 National Collegiate Athletic Association (NCAA) football players have died in sport: 26 nontraumatic deaths and 6 traumatic deaths, a ratio of more than 4 nontraumatic deaths for every traumatic death. On average, 2 NCAA football players die per season played. Best practices, consensus guidelines, and precautions are ignored, elevating the risk...
January 31, 2017: Journal of Athletic Training
https://www.readbyqxmd.com/read/28128037/secondary-prevention-of-childhood-arterial-ischemic-stroke
#8
Stéphane Darteyre, Cyrille Renaud, Joel Fluss, Silvy Laporte, Laurent Bertoletti, Stéphane Chabrier
This study aimed to know how frontline physicians in France, Belgium, and Switzerland implement guidelines regarding the secondary prevention of childhood arterial ischemic stroke and to introduce physicians' point of view on a clinical trial assessing the efficacy of aspirin as a preventive strategy. The authors conducted an online survey directed at specialists throughout dedicated networks and used a mixed method for data analysis. Overall, 63 physicians responded, and 88% prescribe aspirin when sickle cell disease, cardio-embolic stroke, and dissection of cervical arteries are excluded...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28127478/neurological-complications-following-blood-transfusions-in-sickle-cell-anemia
#9
Hana Alharbi, Nayaab Khawar, Jolanta Kulpa, Anne Bellin, Simona Proteasa, Revathy Sundaram
In Sickle Cell Anemia (SCA) patient blood transfusions are an important part of treatment for stroke and its prevention. However, blood transfusions can also lead to complications such as Reversible Posterior Leukoencephalopathy Syndrome (RPLS). This brief report highlights two cases of SCA who developed such neurological complications after a blood transfusion. RLPS should be considered as the cause of neurologic finding in patients with SCA and hypertension following a blood transfusion.
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28105733/vitamin-d-supplementation-for-sickle-cell-disease
#10
REVIEW
Htoo Htoo Kyaw Soe, Adinegara Bl Abas, Nan Nitra Than, Han Ni, Jaspal Singh, Abdul Razzak Bin Mohd Said, Ifeyinwa Osunkwo
BACKGROUND: Sickle cell disease is a genetic chronic haemolytic and pro-inflammatory disorder. The clinical manifestations of sickle cell disease result from the presence of mutations on the beta globin genes that generate an abnormal haemoglobin product (called haemoglobin S) within the red blood cell. Sickle cell disease can lead to many complications such as acute chest syndrome, stroke, acute and chronic bone complications (including painful vaso-occlusive crisis, osteomyelitis, osteonecrosis and osteoporosis)...
January 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28100970/sickle-cell-disease-with-cyanotic-congenital-heart-disease-long-term-outcomes-in-5-children
#11
Glen J Iannucci, Olufolake A Adisa, Matthew E Oster, Michael McConnell, William T Mahle
Sickle cell disease is a risk factor for cerebrovascular accidents in the pediatric population. This risk is compounded by hypoxemia. Cyanotic congenital heart disease can expose patients to prolonged hypoxemia. To our knowledge, the long-term outcome of patients who have combined sickle cell and cyanotic congenital heart disease has not been reported. We retrospectively reviewed patient records at our institution and identified 5 patients (3 girls and 2 boys) who had both conditions. Their outcomes were uniformly poor: 4 died (age range, 12 mo-17 yr); 3 had documented cerebrovascular accidents; and 3 developed ventricular dysfunction...
December 2016: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28099557/patients-with-sickle-cell-disease-are-frequently-excluded-from-the-benefits-of-transcranial-doppler-screening-for-the-risk-of-stroke-despite-extensive-and-compelling-evidence
#12
Daniela Laranja Gomes Rodrigues, Samuel Ademola Adegoke, Rejane de Souza Macedo Campos, Josefina Aparecida Pellegrini Braga, Maria Stella Figueiredo, Gisele Sampaio Silva
Methods: Transcranial doppler was performed in accordance with the Stroke Prevention Trial in Sickle Cell Anemia Protocol. Results: Of the 396 patients, 69.5% had homozygous SS hemoglobin. The TCD result was abnormal in 4.8%, conditional in 12.6%, inadequate in 4.3% and abnormally low in 1% of patients. The highest mean flow velocities were 121±23.83cm/s and 124±27.21cm/s in the left and right middle cerebral artery respectively. A total of 28.8% patients (mean age 9...
January 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28094851/blood-transfusion-for-preventing-primary-and-secondary-stroke-in-people-with-sickle-cell-disease
#13
REVIEW
Lise J Estcourt, Patricia M Fortin, Sally Hopewell, Marialena Trivella, Winfred C Wang
BACKGROUND: Sickle cell disease is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes. Sickle cell disease can cause severe pain, significant end-organ damage, pulmonary complications, and premature death. Stroke affects around 10% of children with sickle cell anaemia (HbSS). Chronic blood transfusions may reduce the risk of vaso-occlusion and stroke by diluting the proportion of sickled cells in the circulation...
January 17, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28089760/enhanced-long-term-brain-magnetic-resonance-imaging-evaluation-of-children-with-sickle-cell-disease-after-hematopoietic-cell-transplantation
#14
Nancy S Green, Monica Bhatia, Erica Y Griffith, Mahvish Qureshi, Courtney Briamonte, Mirko Savone, Stephen Sands, Margaret T Lee, Angela Lignelli, Adam M Brickman
Progressive neurovasculopathy in children with sickle cell disease (SCD) results in decreased cognitive function and quality of life (QoL). Hematopoietic cell transplantation (HCT) is believed to halt progression of neurovasculopathy. Quantitative analysis of T2-weighted fluid attenuated inversion recovery (FLAIR) magnetic resonance imaging (MRI) for white matter hyperintensity (WMH) burden provides a meaningful estimate of small vessel cerebrovascular disease. We asked if quantitative analysis of WMH could complement standardized clinical assessment of MRI/magnetic resonance angiography (MRA) for assessing SCD central nervous system vasculopathy before and after HCT...
January 9, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28052565/cerebral-hemodynamics-and-pseudo-continuous-arterial-spin-labeling-considerations-in-adults-with-sickle-cell-anemia
#15
Meher R Juttukonda, Lori C Jordan, Melissa C Gindville, Larry T Davis, Jennifer M Watchmaker, Sumit Pruthi, Manus J Donahue
Sickle cell anemia (SCA) is a genetic disorder resulting in reduced oxygen carrying capacity and elevated stroke risk. Pseudo-continuous arterial spin labeling (pCASL) measures of cerebral blood flow (CBF) may have relevance for stroke risk assessment; however, the effects of elevated flow velocity and reduced bolus arrival time (BAT) on CBF quantification in SCA patients have not been thoroughly characterized, and pCASL model parameters used in healthy adults are often applied to patients with SCA. Here, cervical arterial flow velocities and pCASL labeling efficiencies were computed in adults with SCA (n = 19) and age- and race-matched controls without sickle trait (n = 7) using pCASL in sequence with phase contrast MR angiography (MRA)...
February 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28003889/knowledge-and-health-beliefs-regarding-sickle-cell-disease-among-omanis-in-a-primary-healthcare-setting-cross-sectional-study
#16
Mohammed H Al-Azri, Rajaa Al-Belushi, Muna Al-Mamari, Robin Davidson, Anil C Mathew
OBJECTIVES: Sickle cell disease (SCD) is a global health concern associated with high childhood morbidity and mortality; in Oman, the prevalence of SCD is 0.2%. Public awareness of SCD and the need for premarital screening (PMS) are essential to reduce the incidence of this disease. This study aimed to assess awareness of and beliefs regarding SCD and PMS among Omanis in a primary healthcare setting. METHODS: This cross-sectional study took place in five health centres located in Al-Seeb Province, Muscat, Oman, between June and August 2015...
November 2016: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/27994894/ischemic-monomeric-neuropathy-in-a-woman-with-sickle-cell-anaemia
#17
Alexandra Agapidou, Laura Aiken, Lisa Linpower, Dimitris A Tsitsikas
Sickle cell disease is an inherited haemoglobinopathy that can affect multiple organs and systems. The most common neurological complication in sickle cell disease is stroke and silent cerebral infarcts. Peripheral nervous system involvement has been described but is exceedingly rare. Herein, we describe the case of a young woman who presented with acute flaccid paralysis and sensory loss of the left lower extremity in the context of a painful vasoocclusive crisis which resolved rapidly after receiving an emergency automated red cell exchange transfusion...
2016: Case Reports in Hematology
https://www.readbyqxmd.com/read/27994488/an-unfortunate-case-of-acquired-hemochromatosis-a-case-report-review-of-the-clinical-presentation-diagnosis-management-and-prognosis
#18
Anam Tariq, Kevin Westra, Arben Santo
BACKGROUND: While blood transfusions are commonly used for prophylaxis and treatment for acute chest syndromes and strokes in sickle cell patients, accumulation of excess iron resulting in secondary hemochromatosis remains a rare disease. Chelation is the mainstay for preventing and treating iron overload to deter potential end-organ damages; it is rare when therapy fails. CASE REPORT: A 52-year-old African American woman with chronic anemia secondary to sickle cell anemia and history of multiple blood transfusions presented with elevated serum ferritin (8000 ng/mL) and bilirubin (16...
2016: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/27957790/transcranial-doppler-in-hemoglobin-sc-disease
#19
Camilo Vieira, Carolina Nogueira Costa de Oliveira, Ludmila Araújo Borges de Figueiredo, Rayra Pereira Santiago, Corynne Stephanie Ahouefa Adanho, Sanzio Silva Santana, Caroline Lang Burak, Isa Menezes Lyra, Marilda Souza Goncalves
BACKGROUND: Stroke is a severe clinical disorder in sickle cell disease (SCD), and few studies have evaluated transcranial Doppler (TCD) flow velocities in hemoglobin SC disease (HbSC). The guidelines for stroke risk are based on evaluations in sickle cell anemia (SCA) or HbS/β thalassemia. PROCEDURE: In this study, we compare cerebral blood flow in patients with SCD stratified by genotypes. A total of 1,664 pediatric patients with SCD underwent TCD velocity screening, and the time-averaged maximum mean velocity (TAMM) was determined in the middle cerebral artery (MCA), anterior cerebral artery (ACA), and distal intracranial internal carotid artery (ICA) ...
December 13, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27913539/prevention-of-central-nervous-system-sequelae-in-sickle-cell-disease-without-evidence-from-randomized-controlled-trials-the-case-for-a-team-based-learning-collaborative
#20
Michael R DeBaun, Allison A King
Since 1998, the National Institutes of Health has funded 5 randomized controlled trials (RCTs) for primary and secondary prevention of strokes in children with sickle cell anemia (SCA). In a systematic fashion, these trials have significantly advanced the care of children with SCA. In the absence of an RCT, clinicians are often compelled to make decisions at the bedside, based on experience, observational studies, and principles of hematology. We will provide an initial example that describes how a team-based, learning collaborative developed a multisite standard care protocol with a low budget (<$10 000 per year) to overcome the intrinsic limitations of advancing the care of neurologic complications in sickle cell disease (SCD)...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
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