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https://www.readbyqxmd.com/read/29222290/chronic-organ-failure-in-adult-sickle-cell-disease
#1
REVIEW
Elliott Vichinsky
Sickle cell disease is now a chronic adult illness characterized by progressive multiorgan failure, particularly involving the brain and kidney. The etiology is multifactorial; it includes hemolysis and nitric oxide deficiency. As patients age, most experience neurologic insult. Twenty-five percent of older adults have had a clinical stroke and at least half of the population have had a silent infarct, cortical atrophy, and neurocognitive impairment. Periodic screening with neuroimaging and neurocognitive testing is recommended...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222289/what-is-the-role-of-screening-for-pulmonary-hypertension-in-adults-and-children-with-sickle-cell-disease
#2
REVIEW
Shaina M Willen, Mark T Gladwin
Patient case: An 18-year-old male patient with homozygous hemoglobin SS disease was evaluated for progressive dyspnea and elevated tricuspid regurgitant jet velocity (TRV) on echocardiography. The patient's case is described in detail in Lancet1 He had been treated with regular transfusions since childhood for stroke, had rare episodes of vaso-occlusive pain episodes, and did not take narcotic pain medications. He presented with progressive severe dyspnea on exertion and lower extremity edema. His laboratory tests were notable for a total hemoglobin level of 11...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29201539/assessment-of-cerebral-blood-flow-with-magnetic-resonance-imaging-in-children-with-sickle-cell-disease-a-quantitative-comparison-with-transcranial-doppler-ultrasonography
#3
Paula L Croal, Jackie Leung, Przemyslaw Kosinski, Manohar Shroff, Isaac Odame, Andrea Kassner
Introduction: Transcranial Doppler ultrasonography (TCD) is a clinical tool for stratifying ischemic stroke risk by identifying abnormal elevations in blood flow velocity (BFV) in the middle cerebral artery (MCA). However, TCD is not effective at screening for subtle neurologic injury such as silent cerebral infarcts. To better understand this disparity, we compared TCD measures of BFV with tissue-level cerebral blood flow (CBF) using arterial spin-labeling MRI in children with and without sickle cell disease, and correlated these measurements against clinical hematologic measures of disease severity...
November 2017: Brain and Behavior
https://www.readbyqxmd.com/read/29195085/clinical-and-hematological-profile-in-a-newborn-cohort-with-hemoglobin-sc
#4
Paulo V Rezende, Millane V Santos, Gustavo F Campos, Laura L M Vieira, Maristela B Souza, André R Belisário, Celia M Silva, Marcos B Viana
OBJECTIVES: Hemoglobin SC is the second most common variant of sickle-cell disease worldwide, after hemoglobin SS. The objectives of the study were to describe the clinical and laboratory characteristics of hemoglobin SC disease in children from a newborn screening program and treated at a blood donor center. METHODOLOGY: This study assessed a cohort of 461 infants born between 01/01/1999 and 12/31/2012 and followed-up until 12/31/2014. Clinical events were expressed as rates for 100 patient-years, with 95% confidence intervals...
November 28, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/29181140/foetal-haemoglobin-and-disease-severity-in-nigerian-children-with-sickle-cell-anaemia
#5
Oluwagbemiga O Adeodu, Morenike A Akinlosotu, Samuel A Adegoke, Saheed B A Oseni
Background: Foetal haemoglobin (HbF) is a major modifying factor influencing sickle cell disease (SCD) severity. Despite this, HbF estimation is not routinely done in Nigeria. The relationship between HbF and SCD severity among affected children is also poorly studied. Methods: In this descriptive cross-sectional study, we determined the relationship between steady state HbF levels and disease severity of Nigerian children aged 1 - 15 years with homozygous SCD. For each child, the socio-demographic characteristics and SCD clinical severity were determined...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29168218/the-clinical-epidemiology-of-sickle-cell-anemia-in-africa
#6
Alex W Macharia, George Mochamah, Sophie Uyoga, Carolyne M Ndila, Gideon Nyutu, Johnstone Makale, Metrine Tendwa, Emily Nyatichi, John Ojal, Mohammed Shebe, Kennedy O Awuondo, Neema Mturi, Norbert Peshu, Benjamin Tsofa, J Anthony G Scott, Kathryn Maitland, Thomas N Williams
Sickle cell anemia (SCA) is the commonest severe monogenic disorders of humans. The disease has been highly characterized in high-income countries but not in sub-Saharan Africa where SCA is most prevalent. We conducted a retrospective cohort study of all children 0-13 years admitted from within a defined study area to Kilifi County Hospital in Kenya over a five-year period. Children were genotyped for SCA retrospectively and incidence rates calculated with reference to population data. Overall, 576 of 18,873 (3...
November 23, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29157167/%C3%AE-s-globin-gene-haplotype-and-the-stroke-risk-among-egyptian-children-with-sickle-cell-disease
#7
Heba H Abou-Elew, Ilham Youssry, Shireen Hefny, Rania H Hashem, Nevine Fouad, Rania A Zayed
BACKGROUND AND AIM OF WORK: Sickle cell disease (SCD) is an inherited disease of the beta globin gene. The βS globin gene haplotypes are Senegal, Benin, Bantu, Cameroon, Arab-Indian and atypical haplotypes. In SCD, stroke is a life-threatening event in both adults and children. In light of paucity of studies on βS globin gene haplotypes in Egypt, we aimed to determine βS globin gene haplotypes in children with SCD and study their impact on stroke risk. METHODS: Fifty-two SCD patients were included in the study, they were 26 males and 26 females with age range from 3 to 18 years old...
November 20, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29127680/gene-addition-strategies-for-%C3%AE-thalassemia-and-sickle-cell-anemia
#8
Alisa C Dong, Stefano Rivella
Beta-thalassemia and sickle cell anemia are two of the most common diseases related to the hemoglobin protein. In these diseases, the beta-globin gene is mutated, causing severe anemia and ineffective erythropoiesis. Patients can additionally present with a number of life-threatening co-morbidities, such as stroke or spontaneous fractures. Current treatment involves transfusion and iron chelation; allogeneic bone marrow transplant is the only curative option, but is limited by the availability of matching donors and graft-versus-host disease...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29127268/sickle-mice-are-sensitive-to-hypoxia-ischemia-induced-stroke-but-respond-to-tissue-type-plasminogen-activator-treatment
#9
Yu-Yo Sun, Jolly Lee, Henry Huang, Mary B Wagner, Clinton H Joiner, David R Archer, Chia-Yi Kuan
BACKGROUND AND PURPOSE: The effects of lytic stroke therapy in patients with sickle cell anemia are unknown, although a recent study suggested that coexistent sickle cell anemia does not increase the risk of cerebral hemorrhage. This finding calls for systemic analysis of the effects of thrombolytic stroke therapy, first in humanized sickle mice, and then in patients. There is also a need for additional predictive markers of sickle cell anemia-associated vasculopathy. METHODS: We used Doppler ultrasound to examine the carotid artery of Townes sickle mice tested their responses to repetitive mild hypoxia-ischemia- and transient hypoxia-ischemia-induced stroke at 3 or 6 months of age, respectively...
November 10, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/29117957/nocturnal-oxyhemoglobin-desaturation-and-arteriopathy-in-a-pediatric-sickle-cell-disease-cohort
#10
Nomazulu Dlamini, Dawn E Saunders, Michael Bynevelt, Sara Trompeter, Timothy C Cox, Romola S Bucks, Fenella J Kirkham
OBJECTIVE: The purpose of this study of sickle cell disease (SCD) was to determine whether arteriopathy, measurable as intracranial vessel signal loss on magnetic resonance angiography (MRA), was associated with low nocturnal hemoglobin oxygen saturation (SpO2) or hemolytic rate, measurable as reticulocytosis or unconjugated hyperbilirubinemia. METHODS: Ninety-five East London children with SCD without prior stroke had overnight pulse oximetry, of whom 47 (26 boys, 39 hemoglobin SS; mean age 9...
November 8, 2017: Neurology
https://www.readbyqxmd.com/read/29107441/real-life-experience-with-hydroxyurea-in-sickle-cell-disease-a-multicenter-study-in-a-cohort-of-patients-with-heterogeneous-descent
#11
Paolo Rigano, Lucia De Franceschi, Laura Sainati, Antonio Piga, Frédéric B Piel, Maria Domenica Cappellini, Carmelo Fidone, Nicoletta Masera, Giovanni Palazzi, Barbara Gianesin, Gian Luca Forni
We conducted the first nation-wide cohort study of sickle cell disease (SCD) in Italy, a Southern European country exposed to intense recent flux migration from endemic areas for SCD. We evaluate the impact of hydroxyurea on a total of 652 pediatric and adult patients from 33 Reference Centers for SCD (mean age 24.5±15years, 51.4% males). Hydroxyurea median treatment duration was 7years (range: <1year to 29years) at a mean therapeutic dose of 18±4.7mg/kg/day. Hydroxyurea was associated with a significant increase in mean total and fetal hemoglobin and a significant decrease in mean hemoglobin S, white blood and platelet counts, and lactate dehydrogenase levels...
October 9, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29103427/neuroinflammation-in-ischemic-pediatric-stroke
#12
Maja Steinlin
Over the last decades, the importance of inflammatory processes in pediatric stroke have become increasingly evident. Ischemia launches a cascade of events: activation and inhibition of inflammation by a large network of cytokines, adhesion and small molecules, protease, and chemokines. There are major differences in the neonatal brain compared to adult brain, but developmental trajectories of the process during childhood are not yet well known. In neonatal stroke ischemia is the leading pathophysiology, but infectious and inflammatory processes have a significant input into the course and degree of tissue damage...
August 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29077370/removal-of-arterial-vessel-contributions-in-susceptibility-weighted-images-for-quantification-of-normalized-visible-venous-volume-in-children-with-sickle-cell-disease
#13
Adam M. Winchell, Ruitian Song, Ralf B. Loeffler, Winfred C. Wang, Jane S. Hankins, Kathleen J. Helton, Claudia M. Hillenbrand
Purpose: To evaluate a new postprocessing framework that eliminates arterial vessel signal contributions in the quantification of normalized visible venous volume (NVVV, a ratio between venous and brain volume) in susceptibility-weighted imaging (SWI) exams in patients with sickle cell disease (SCD). Materials and Methods: We conducted a retrospective study and qualitatively reviewed for hypointense arterial vessel contamination in SWI exams from 21 children with SCD...
2017: Journal of Healthcare Engineering
https://www.readbyqxmd.com/read/29065618/removal-of-arterial-vessel-contributions-in-susceptibility-weighted-images-for-quantification-of-normalized-visible-venous-volume-in-children-with-sickle-cell-disease
#14
Adam M Winchell, Ruitian Song, Ralf B Loeffler, Winfred C Wang, Jane S Hankins, Kathleen J Helton, Claudia M Hillenbrand
PURPOSE: To evaluate a new postprocessing framework that eliminates arterial vessel signal contributions in the quantification of normalized visible venous volume (NVVV, a ratio between venous and brain volume) in susceptibility-weighted imaging (SWI) exams in patients with sickle cell disease (SCD). MATERIALS AND METHODS: We conducted a retrospective study and qualitatively reviewed for hypointense arterial vessel contamination in SWI exams from 21 children with SCD...
2017: Journal of Healthcare Engineering
https://www.readbyqxmd.com/read/29048550/altered-neurophysiological-processing-of-auditory-attention-in-preschool-children-with-sickle-cell-disease
#15
Michelle Downes, Fenella J Kirkham, Paul T Telfer, Michelle de Haan
Objective: Sickle cell disease (SCD) is a genetic red blood cell disorder that often leads to stroke and executive dysfunction in school-age children and adults. This study aimed to characterize the development of the neural correlates of selective attention, an early component of executive function, in preschool children with SCD. Methods: Auditory event-related potentials (ERPs) were recorded while children attended to a story stream in one ear and ignored a second story in the other ear interchangeably...
September 18, 2017: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/29020197/sickle-cell-trait-and-heat-injury-among-u-s-army-soldiers
#16
D Alan Nelson, Patricia A Deuster, Francis G O'Connor, Lianne M Kurina
There is concern that sickle cell trait increases risk of exertional collapse, a primary cause of which is heat injury. However, no population-based studies among active individuals have addressed this, representing a critical evidence gap. We conducted a retrospective cohort study of sickle cell trait-tested African American soldiers on active-duty in the U.S. Army anytime between January 2011 and December 2014. Using Cox proportional hazards models and adjusting for demographic and medical factors, we observed no significant associations between sickle cell trait and either mild heat injury (hazard ratio (HR), 1...
August 17, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28992220/blood-pressure-and-arterial-stiffness-in-kenyan-adolescents-with-the-sickle-cell-trait
#17
Anthony O Etyang, Christopher K Wandabwa, Sailoki Kapesa, Esther Muthumbi, Emily Odipo, Marylene Wamukoya, Nicholas Ngomi, Tilahun Haregu, Catherine Kyobutungi, Thomas N Williams, Johnstone Makale, Alex Macharia, J Kennedy Cruickshank, Liam Smeeth, J Anthony G Scott
The potential association between sickle cell trait (SCT) and increased arterial stiffness/blood pressure (BP) has not been evaluated in detail despite its association with stroke, sudden death and renal disease. We performed 24-hour ambulatory BP monitoring and arterial stiffness measurements in adolescents raised in a malaria free environment in Kenya.Between December 2015 and June 2016, 938 randomly selected adolescents that had been continuous residents of Nairobi from birth were invited to participate in the study...
June 12, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28981541/contrasting-resting-state-fmri-abnormalities-from-sickle-and-non-sickle-anemia
#18
Julie Coloigner, Yeun Kim, Adam Bush, Soyoung Choi, Melissa C Balderrama, Thomas D Coates, Sharon H O'Neil, Natasha Lepore, John C Wood
Sickle cell disease (SCD) is a chronic blood disorder that is often associated with acute and chronic cerebrovascular complications, including strokes and impaired cognition. Using functional resting state magnetic resonance images, we performed whole-brain analysis of the amplitude of low frequency fluctuations (ALFF), to detect areas of spontaneous blood oxygenation level dependent signal across brain regions. We compared the ALFF of 20 SCD patients to that observed in 19 healthy, age and ethnicity-matched, control subjects...
2017: PloS One
https://www.readbyqxmd.com/read/28951881/state-level-implementation-of-health-and-safety-policies-to-prevent-sudden-death-and-catastrophic-injuries-within-secondary-school-athletics
#19
William M Adams, Samantha E Scarneo, Douglas J Casa
BACKGROUND: Sudden death and catastrophic injuries during sport can be attenuated with the implementation of evidence-based health and safety policies. However, the extent of the implementation of these policies within secondary school athletics is unknown. PURPOSE: To provide an assessment of the implementation of health and safety policies pertaining to the leading causes of sudden death and catastrophic injuries in sport within secondary school athletics in the United States...
September 2017: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/28948451/a-diagnostic-approach-to-stroke-in-young-adults
#20
REVIEW
Christopher A Stack, John W Cole
Optimal diagnosis and management of stroke in young adults benefit from a multidisciplinary team, including a vascular neurology specialist. In addition to the "standard" vascular risk factors including smoking, hypertension, diabetes, and hyperlipidemia, one needs to consider alternative etiologies including substance abuse, carotid/vertebral artery dissections, and rare genetic conditions among others. Once a young patient is determined to have had a stroke, the next question a clinician should ask is why did this patient have a stroke? A "heart to head" diagnostic approach is recommended...
September 25, 2017: Current Treatment Options in Cardiovascular Medicine
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