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Sickle cell disease

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https://www.readbyqxmd.com/read/29223211/perinatal-and-neonatal-implications-of-sickle-cell-disease
#1
Cathi Phillips, Margaret Peggy Boyd
Sickle cell disease is the genetic disorder most commonly detected with state-mandated newborn screening. Women with sickle cell disease struggle with psychosocial, emotional, and physical challenges throughout their lives. Pregnancy for women with sickle cell disease brings greater risk for maternal and fetal morbidity and mortality and increased likelihood of hospitalization for complications, including sickle cell pain crisis. Chronic maternal opioid use for pain can place newborns at risk for neonatal abstinence syndrome...
December 2017: Nursing for Women's Health
https://www.readbyqxmd.com/read/29222304/targeting-novel-mechanisms-of-pain-in-sickle-cell-disease
#2
REVIEW
Huy Tran, Mihir Gupta, Kalpna Gupta
Patients with sickle cell disease (SCD) suffer from intense pain that can start during infancy and increase in severity throughout life, leading to hospitalization and poor quality of life. A unique feature of SCD is vaso-occlusive crises (VOCs) characterized by episodic, recurrent, and unpredictable episodes of acute pain. Microvascular obstruction during a VOC leads to impaired oxygen supply to the periphery and ischemia reperfusion injury, inflammation, oxidative stress, and endothelial dysfunction, all of which may perpetuate a noxious microenvironment leading to pain...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222303/responsiveness-of-patient-reported-outcome-measurement-information-system-promis-pain-domains-and-disease-specific-patient-reported-outcome-measures-in-children-and-adults-with-sickle-cell-disease
#3
REVIEW
Susanna Curtis, Amanda M Brandow
Case 1: A 33-year-old man with hemoglobin SS (homozygous hemoglobin S) disease presents for his regular clinic visit. He had 6 hospital admissions for pain over the past year. He also has avascular necrosis of the right hip. He takes daily hydroxyurea with hematologic changes indicative of compliance. He also takes morphine sustained release twice daily and morphine immediate release every 6 hours as needed for pain. He feels that more optimal pain control at home would help him reduce his number of hospital admissions in the upcoming year and improve his daily functioning at home...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222302/pain-measurement-tools-in-sickle-cell-disease-where-are-we-now
#4
REVIEW
Deepika S Darbari, Amanda M Brandow
Pain is a complex multidimensional experience and the most common morbidity in patients with sickle cell disease (SCD). Tools to assess pain can be of use not only to guide pain treatment but also to provide insight into underlying pain neurobiology. Mechanisms of pain in SCD are multifactorial and are not completely elucidated. Although vaso-occlusion of microcirculation by sickled red cells is believed to be the underlying mechanism of acute vaso-occlusive pain, mechanisms for chronic pain and the transition from acute to chronic pain are under investigation...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222301/optimizing-the-care-model-for-an-uncomplicated-acute-pain-episode-in-sickle-cell-disease
#5
REVIEW
Paul Telfer, Banu Kaya
The pathophysiology, clinical presentation, and natural history of acute pain in sickle cell disease are unique and require a disease-centered approach that also applies general principles of acute and chronic pain management. The majority of acute pain episodes are managed at home without the need to access health care. The long-term consequences of poorly treated acute pain include chronic pain, adverse effects of chronic opioid usage, psychological maladjustment, poor quality of life, and excessive health care utilization...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222291/evolving-treatment-paradigms-in-sickle-cell-disease
#6
REVIEW
Ramasamy Jagadeeswaran, Angela Rivers
Sickle cell disease (SCD) is an inheritable hemoglobinopathy characterized by polymerization of hemoglobin S in red blood cells resulting in chronic hemolytic anemia, vaso-occlusive painful crisis, and multiorgan damage. In SCD, an increased reactive oxygen species (ROS) generation occurs both inside the red blood cells and inside the vascular lumen, which augment hemolysis and cellular adhesion. This review discusses the evolving body of literature on the role of ROS in the pathophysiology of SCD as well as some emerging therapeutic approaches to SCD with a focus on the reduction of ROS...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222290/chronic-organ-failure-in-adult-sickle-cell-disease
#7
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
#8
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/29222288/cardiovascular-complications-in-patients-with-sickle-cell-disease
#9
REVIEW
Mark T Gladwin
Sickle cell disease (SCD) is an autosomal recessive disease in which homozygosity for a single point mutation in the gene encoding the β-globin chain produces hemoglobin S molecules that polymerize within the erythrocyte during deoxygenation; the result is sustained hemolytic anemia and vaso-occlusive events. As patients live to adulthood, the chronic impact of sustained hemolytic anemia and episodic vaso-occlusive episodes leads to progressive end-organ complications. This scenario culminates in the development of 1 or more major cardiovascular complications of SCD for which there are no approved or consensus therapies...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222287/rigorous-and-practical-quality-indicators-in-sickle-cell-disease-care
#10
REVIEW
Suzette O Oyeku, Elissa Z Faro
In recent years, several sickle cell-specific quality indicators have been developed using rigorous approaches. A review of the history and current status of the development of sickle cell-specific indicators highlights opportunities for future refinement. Despite efforts at alignment, lack of strong evidence hinders the adoption of current quality indicators across stakeholder groups. There are many directions in which to take the current existing quality indicators, including expanding to different age groups, aims of care such as safety and equity, and better understanding of contextual and environmental factors...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222286/improving-emergency-department-based-care-of-sickle-cell-pain
#11
REVIEW
Jeffrey A Glassberg
Pain is the leading cause of emergency department (ED) visits for individuals living with sickle cell disease (SCD). The care that is delivered in the ED is often cited by patients with SCD as the area of health care in greatest need of improvement. In 2014, the National Heart, Lung, and Blood Institute released guidelines for the care of SCD, including recommendations for the management of acute sickle cell pain in the ED. These guidelines provide a framework to understand the elements of ideal emergency sickle cell pain care; however, they do not provide guidance on barriers and facilitators to achieving these ideals in the complex system of the ED...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222285/five-lessons-learned-about-long-term-pain-management-in-adults-with-sickle-cell-disease
#12
REVIEW
Joshua J Field
Chronic pain affects one-half of adults with sickle cell disease (SCD). Despite the prevalence of chronic pain, few studies have been performed to determine the best practices for this patient population. Although the pathophysiology of chronic pain in SCD may be different from other chronic pain syndromes, many of the guidelines outlined in the pain literature and elsewhere are applicable; some were consensus-adopted in the 2014 National Heart, Lung, and Blood Institute SCD Guidelines. Recommended practices, such as controlled substance agreements and monitoring of urine, may seem unnecessary or counterproductive to hematologists...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29221806/characterization-of-gene-alterations-following-editing-of-the-%C3%AE-globin-gene-locus-in-hematopoietic-stem-progenitor-cells
#13
Joseph Long, Megan D Hoban, Aaron R Cooper, Michael L Kaufman, Caroline Y Kuo, Beatriz Campo-Fernandez, Dianne Lumaquin, Roger P Hollis, Xiaoyan Wang, Donald B Kohn, Zulema Romero
The use of engineered nucleases combined with a homologous DNA donor template can result in targeted gene correction of the sickle cell disease mutation in hematopoietic stem and progenitor cells. However, because of the high homology between the adjacent human β- and δ-globin genes, off-target cleavage is observed at δ-globin when using some endonucleases targeted to the sickle mutation in β-globin. Introduction of multiple double-stranded breaks by endonucleases has the potential to induce intergenic alterations...
November 9, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29221480/prevalence-and-etiologies-of-pulmonary-hypertension-in-africa-a-systematic-review-and-meta-analysis
#14
Jean Joel Bigna, Jean Jacques Noubiap, Jobert Richie Nansseu, Leopold Ndemnge Aminde
BACKGROUND: Despite the recent increasing worldwide attention towards pulmonary hypertension (PH), its epidemiology remains poorly described in Africa. Accordingly, we performed a systematic review and meta-analysis of PH prevalence, incidence and etiologies in Africa. METHODS: We searched PubMed, EMBASE, African Journals Online, and Africa Index Medicus. Published observational studies until September 20, 2017, including adult participants residing in Africa were considered...
December 8, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/29220407/respiratory-resistance-and-reactance-in-adults-with-sickle-cell-anemia-correlation-with-functional-exercise-capacity-and-diagnostic-use
#15
Cirlene de Lima Marinho, Maria Christina Paixão Maioli, Jorge Luis Machado do Amaral, Agnaldo José Lopes, Pedro Lopes de Melo
BACKGROUND: The improvement in sickle cell anemia (SCA) care resulted in the emergence of a large population of adults living with this disease. The mechanisms of lung injury in this new population are largely unknown. The forced oscillation technique (FOT) represents the current state-of-the-art in the assessment of lung function. The present work uses the FOT to improve our knowledge about the respiratory abnormalities in SCA, evaluates the associations of FOT with the functional exercise capacity and investigates the early detection of respiratory abnormalities...
2017: PloS One
https://www.readbyqxmd.com/read/29214337/sleep-disordered-breathing-in-patients-with-sickle-cell-disease
#16
REVIEW
Vikram M Raghunathan, Peter L Whitesell, Seah H Lim
Sickle cell disease is one of the most common hereditary hemoglobinopathies worldwide, and its vaso-occlusive and hemolytic crises cause considerable patient morbidity. A growing body of evidence has shown that sleep-disordered breathing, and in particular, obstructive sleep apnea, occurs at high frequency in the sickle cell population, and that there is significant overlap in the underlying pathophysiology of these two conditions. Through a variety of mechanisms including nocturnal hypoxemia and increased oxidative stress, production of pro-inflammatory cytokines, and endothelial dysfunction, sickle cell anemia and sleep-disordered breathing potentiate each other's clinical effects and end-organ complications...
December 6, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/29211182/-prevalence-of-hemoglobin-variants-in-quilombola-communities-in-the-state-of-piau%C3%A3-brazil
#17
Leonardo Ferreira Soares, Eleonidas Moura Lima, José Alexsandro da Silva, Suenia Soares Fernandes, Keyla Malba da Costa Silva, Sarah Pereira Lins, Bolivar Ponciano Goulart de Lima Damasceno, Roseane Mara Cardoso Lima Verde, Marilda de Souza Gonçalves
Hemoglobin variants (Hb) result from mutations in globin genes, with amino acid substitution in the polypeptide chain. Among the most common structural variants are HbS, HbC, HbD and HbE. The S hemoglobin gene is a high frequency gene across America and Brazil, where it is more frequent in the Southeast and Northeast. The scope of this article is to investigate the presence of hemoglobin variants in 15 quilombos (fugitive slave communities) of Piaui. The sample was of 1,239 people and hemoglobin was screened by high-performance liquid chromatography (HPLC)...
November 2017: Ciência & Saúde Coletiva
https://www.readbyqxmd.com/read/29210948/cochlear-implantation-in-a-patient-with-sickle-cell-disease-with-early-cochlear-sclerosis
#18
Seon Jeong Kim, Muhammad Reza Taheri, Marquitta Merkison, Ashkan Monfared
OBJECTIVE: We report a case of bilateral sudden sensorineural hearing loss (SNHL) and early cochlear sclerosis in a patient with sickle cell disease. METHODS: A 19-year-old female presented with sequential bilateral sudden SNHL and early cochlear sclerosis. Cochlear implantation was performed. RESULTS: Early cochlear fibrosis in the hook region and basal turn was encountered within a few months of deafness. Implantation required serial dilation using various insertion guides...
November 28, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/29210071/whole-exome-sequencing-of-sickle-cell-disease-patients-with-hyperhemolysis-syndrome-suggests-a-role-for-rare-variation-in-disease-predisposition
#19
Savannah Mwesigwa, Joann M Moulds, Alice Chen, Jonathan Flanagan, Vivien A Sheehan, Alex George, Neil A Hanchard
BACKGROUND: Hyperhemolysis syndrome (HHS) is an uncommon, but life-threatening, transfusion-related complication of red blood cell transfusion. HHS has predominantly been described in patients with sickle cell disease (SCD) and is difficult to diagnose and treat. The pathogenesis of HHS, including its occurrence in only a subset of apparently susceptible individuals, is poorly understood. We undertook whole-exome sequencing (WES) of 12 SCD-HHS patients to identify shared genetic variants that might be relevant to the development of HHS...
December 6, 2017: Transfusion
https://www.readbyqxmd.com/read/29207881/sickle-cell-disease-a-malady-beyond-a-hemoglobin-defect-in-cerebrovascular-disease
#20
Junaid Ansari, Youmna E Moufarrej, Rafal Pawlinski, Felicity N E Gavins
Sickle cell disease (SCD) is a devastating monogenic disorder that presents as a multisystem illness and affects approximately 100,000 individuals in the United States alone. SCD management largely focuses on primary prevention, symptomatic treatment and targeting of hemoglobin polymerization and red blood cell sickling. Areas covered: This review will discuss the progress of SCD over the last few decades, highlighting some of the clinical (mainly cerebrovascular) and psychosocial challenges of SCD in the United States...
December 5, 2017: Expert Review of Hematology
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