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"Sickle Cell Disease"

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https://www.readbyqxmd.com/read/30120022/exploring-putative-genetic-determinants-of-inter-individual-phenotypic-heterogeneity-in-sickle-cell-disease-a-cross-sectional-jamaican-cohort-based-study
#1
Kwesi Marshall, Sharon Howell, Asha Badaloo, Marvin Reid, Norma McFarlane-Anderson, Colin McKenzie
Patients with sickle cell disease (SCD) display puzzling inter-individual phenotypic heterogeneity, conceivably related to inherent differences in antioxidant protection, hemoglobin binding, bilirubin catabolism and methyl group handling. Therefore, we explored putative associations between clinically important phenotypic measures and functional polymorphisms within specific candidate genes encoding glutathione S-transferase, haptoglobin, uridine 5'-diphospho-glucuronosyltransferase 1A1, methyl tetrahydrofolate reductase, 5-methyltetrahydrofolate-homocysteine methyltransferase, and cystathionine beta-synthase...
August 2, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/30114697/antxr1-intronic-variants-are-associated-with-fetal-hemoglobin-in-the-arab-indian-haplotype-of-sickle-cell-disease
#2
Zhara A Al-Ali, Rana K Fallatah, Esra A Aljaffer, Eman R Albukhari, Neriman Sadek Al-Ali, Ziyad T Al-Ghannam, Reem Sayeb Al-Atrash, Ahmed Alsuliman, Chittibabu Vatte
Disease severity of sickle cell anemia is highly variable, and it is commonly accepted that fetal hemoglobin (HbF) levels play a major role as an ameliorating factor. Investigation of genetic variants have identified several genes to be the principal influencers of HbF regulation. Here, we further elucidated the association of rs4527238 and rs35685045 of ANTXR1 genes in the context of HbF level variance in sickle cell anemia patients of the Arab-Indian haplotype. Samples from 630 sickle cell anemia patients were analyzed for the mutations at 2 specific locations of the ANTXR1 gene by TaqMan®-based real-time PCR...
August 16, 2018: Acta Haematologica
https://www.readbyqxmd.com/read/30114530/the-role-of-nitrite-in-muscle-function-susceptibility-to-contraction-injury-and-fatigability-in-sickle-cell-mice
#3
Li Wang, Luis E F Almeida, Sayuri Kamimura, Jack H van der Meulen, Kanneboyina Nagaraju, Martha Quezado, Paul Wakim, Zenaide M N Quezado
Sickle cell disease (SCD) patients can have limited exercise capacity and muscle dysfunction characterized by decreased force, atrophy, microvascular abnormalities, fiber distribution changes, and skeletal muscle energetics abnormalities. Growing evidence suggests that in SCD, there is alteration in nitric oxide (NO) availability/signaling and that nitrate/nitrite can serve as a NO reservoir and enhance muscle performance. Here, we examined effects of nitrite on muscle strength, exercise capacity, and on contractile properties of fast-(extensor digitorum longus, EDL) and slow-twitch (soleus) muscles in SCD mice...
August 13, 2018: Nitric Oxide: Biology and Chemistry
https://www.readbyqxmd.com/read/30108160/impairment-of-nitric-oxide-pathway-by-intravascular-hemolysis-plays-a-major-role-in-mice-esophageal-hypercontractility-reversion-by-soluble-guanylyl-cyclase-stimulator
#4
Fabio Henrique Silva, Kleber Yotsumoto Fertrin, Eduardo Costa Alexandre, Fabiano Beraldi Calmasini, Carla Fernanda Franco-Penteado, Fernando Ferreira Costa
Paroxysmal nocturnal hemoglobinuria (PNH) patients display exaggerated intravascular hemolysis and esophageal disorders. Since excess hemoglobin in the plasma causes reduced nitric oxide (NO) bioavailability and oxidative stress, we hypothesized that esopagheal contraction may be impaired by intravascular hemolysis. This study aimed to analyze the alterations of the esophagus contractile mechanisms in a murine model of exaggerated intravascular hemolysis induced by phenylhydrazine (PHZ). For comparative purposes, sickle cell disease (SCD) mice were also studied, a less severe intravascular hemolysis model...
August 14, 2018: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/30108108/induced-pluripotent-stem-cell-based-mapping-of-%C3%AE-globin-expression-throughout-human-erythropoietic-development
#5
Kim Vanuytsel, Taylor Matte, Amy Leung, Zaw Htut Naing, Tasha Morrison, David H K Chui, Martin H Steinberg, George J Murphy
Robust β-globin expression in erythroid cells derived from induced pluripotent stem cells (iPSCs) increases the resolution with which red blood cell disorders such as sickle cell disease and β thalassemia can be modeled in vitro. To better quantify efforts in augmenting β-globin expression, we report the creation of a β-globin reporter iPSC line that allows for the mapping of β-globin expression throughout human erythropoietic development in real time at single-cell resolution. Coupling this tool with single-cell RNA sequencing (scRNAseq) identified features that distinguish β-globin-expressing cells and allowed for the dissection of the developmental and maturational statuses of iPSC-derived erythroid lineage cells...
August 14, 2018: Blood Advances
https://www.readbyqxmd.com/read/30106987/post-hospital-mortality-in-children-aged-2-12-years-in-tanzania-a-prospective-cohort-study
#6
Duncan K Hau, Neema Chami, Aynsley Duncan, Luke R Smart, Adolfine Hokororo, Neema M Kayange, Robert N Peck
BACKGROUND: Sub-Saharan Africa has the highest rates of child mortality worldwide. Little is known about post-hospital outcomes after an index hospitalization for older children. We determined 12-month post-hospital mortality rate and identified factors associated with higher mortality. METHODS: In this prospective cohort study, we enrolled children 2-12 years of age admitted to the pediatric wards of two public hospitals in northwestern Tanzania. Participants or proxies were contacted at 3, 6 and 12 months post-hospitalization...
2018: PloS One
https://www.readbyqxmd.com/read/30105252/association-between-participants-characteristics-patient-reported-outcomes-and-clinical-outcomes-in-youth-with-sickle-cell-disease
#7
Sherif M Badawy, Leonardo Barrera, Stephanie Cai, Alexis A Thompson
Background: Sickle cell disease (SCD) is a chronic debilitating illness. SCD-related complications result in substantial impairment in quality of life (QOL). Our study objective was to assess the relationship of participants' characteristics, QOL, hydroxyurea adherence, and SCD-related clinical outcomes in youth with SCD. Procedure: A single-center cross-sectional study. Thirty-four youth with SCD enrolled from clinic between January and December 2015. Participants completed PROMIS® measures and ©Modified Morisky Adherence Scale...
2018: BioMed Research International
https://www.readbyqxmd.com/read/30103419/synergistic-integration-of-laboratory-and-numerical-approaches-in-studies-of-the-biomechanics-of-diseased-red-blood-cells
#8
REVIEW
He Li, Dimitrios P Papageorgiou, Hung-Yu Chang, Lu Lu, Jun Yang, Yixiang Deng
In red blood cell (RBC) disorders, such as sickle cell disease, hereditary spherocytosis, and diabetes, alterations to the size and shape of RBCs due to either mutations of RBC proteins or changes to the extracellular environment, lead to compromised cell deformability, impaired cell stability, and increased propensity to aggregate. Numerous laboratory approaches have been implemented to elucidate the pathogenesis of RBC disorders. Concurrently, computational RBC models have been developed to simulate the dynamics of RBCs under physiological and pathological conditions...
August 10, 2018: Biosensors
https://www.readbyqxmd.com/read/30097463/double-blind-randomized-multicenter-phase-2-study-of-sc411-in-children-with-sickle-cell-disease-scot-trial
#9
Ahmed A Daak, Carlton D Dampier, Beng Fuh, Julie Kanter, Ofelia A Alvarez, L Vandy Black, Melissa A McNaull, Michael U Callaghan, Alex George, Lynne Neumayr, Lee M Hilliard, Fredrick Sancilio, Adrian L Rabinowicz, Matthew M Heeney
Blood cell membranes in sickle cell disease (SCD) have low docosahexaenoic acid (DHA). DHA treatment reduces sickle cell crisis (SCC) rate and ameliorates the inflammation, oxidative stress, and hypercoagulable state of SCD. SC411 is a novel DHA ethyl ester formulation with a proprietary delivery platform (Advanced Lipid Technology) that enhances DHA bioavailability. The SCOT trial investigated the effect of 3 different doses of SC411 on clinical and biochemical endpoints in 67 children with SCD (5-17 years old)...
August 14, 2018: Blood Advances
https://www.readbyqxmd.com/read/30097462/elevated-ecto-5-nucleotidase-a-missing-pathogenic-factor-and-new-therapeutic-target-for-sickle-cell-disease
#10
Hong Liu, Morayo Adebiyi, Rong Rong Liu, Anren Song, Jeanne Manalo, Yuan Edward Wen, Alexander Q Wen, Tingting Weng, Junsuk Ko, Modupe Idowu, Rodney E Kellems, Holger K Eltzschig, Michael R Blackburn, Harinder S Juneja, Yang Xia
Although excessive plasma adenosine is detrimental in sickle cell disease (SCD), the molecular mechanism underlying elevated circulating adenosine remains unclear. Here we report that the activity of soluble CD73, an ectonucleotidase producing extracellular adenosine, was significantly elevated in a murine model of SCD and correlated with increased plasma adenosine. Mouse genetic studies demonstrated that CD73 activity contributes to excessive induction of plasma adenosine and thereby promotes sickling, hemolysis, multiorgan damage, and disease progression...
August 14, 2018: Blood Advances
https://www.readbyqxmd.com/read/30095751/how-sickle-cell-disease-impairs-skeletal-muscle-function-implications-in-daily-life
#11
Angèle N Merlet, Benjamin Chatel, Christophe Hourdé, Marion Ravelojaona, David Bendahan, Léonard Féasson, Laurent A Messonnier
Sickle cell disease (SCD) is the most frequent life-threatening genetic hemoglobinopathy in the world and occurs due to the synthesis of abnormal hemoglobin S (HbS). HbS-containing red blood cells (RBCs) are fragile, leading to hemolysis and anemia, and adhere to the endothelium, leading to hemorheological and hemodynamical disturbances. In its deoxygenated form, HbS may polymerize, leading to sickling of RBCs and potentially to vaso-occlusive crises. Recent findings observed that sickle cell disease patients demonstrate significant skeletal muscle remodeling and display reduced muscle functional capacities, contributing to exercise intolerance and poor quality of life...
August 8, 2018: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/30095446/pain-control-in-a-pediatric-patient-with-sickle-cell-disease-using-regional-nerve-blocks-for-laparoscopic-cholecystectomy-a-case-report
#12
Aysha Hasan, Autumn D Nanassy, Gregory Disilvio, Teerin Meckmongkol, L Grier Arthur, Pravin A Taneja
The sickle cell patient population continues to provide challenges in pain control. Current therapies include narcotic usage with adjuvant therapies such as anti-inflammatories and nonpharmacological interventions. Poor pain management in the sickle cell patient population, especially postoperatively, can lead to hypoventilation, escalating opioid requirements, poor recovery, and longer hospital stays. This case report addresses a novel addition of ultrasound-guided paravertebral and rectus sheath blocks postinduction of general anesthesia and before surgical incision to assist with the intravenous postoperative pain management regimen after laparoscopic cholecystectomy in a 10-year-old boy with sickle cell disease...
August 7, 2018: A&A practice
https://www.readbyqxmd.com/read/30094930/children-with-hbs%C3%AE-0-thalassemia-have-higher-hemoglobin-levels-and-lower-incidence-rate-of-acute-chest-syndrome-compared-to-children-with-hbss
#13
Melissa E Day, Mark Rodeghier, Michael R DeBaun
BACKGROUND: Based on the presumed clinical similarity between the two most severe sickle cell disease (SCD) genotypes, hemoglobin (Hb) Sβ0 thalassemia and HbSS, randomized controlled trials (RCTs) have included both genotypes. Our group has demonstrated that healthcare providers inadequately distinguish the two diagnoses through clinical and laboratory parameters. PROCEDURE: In a retrospective cohort study utilizing data from the Silent Cerebral Infarct Transfusion trial (NCT00072761), we tested the hypothesis that children with genotypic diagnoses of HbSβ0 thalassemia, when compared to HbSS, have significantly different rates of SCD comorbidities...
August 9, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/30087803/use-of-a-national-electronic-health-record-network-to-describe-characteristics-and-healing-patterns-of-sickle-cell-ulcers
#14
Anna Flattau, Hanna Gordon, Giacomo Vinces, William J Ennis, Caterina P Minniti
Objective: Sickle cell ulcers affect as many as 15% of patients with sickle cell disease in the United States and severely impact quality of life. An understanding of baseline healing patterns is important to inform study design for future trials that test therapies for this disease. Approach: In this study, an electronic wound management system was leveraged to analyze retrospective data on 133 unique sickle cell patients who were treated across 114 wound healing centers, and to describe their characteristics and healing patterns as compared with those of venous ulcer patients...
August 1, 2018: Advances in Wound Care
https://www.readbyqxmd.com/read/30082871/a-high-fidelity-cas9-mutant-delivered-as-a-ribonucleoprotein-complex-enables-efficient-gene-editing-in-human-hematopoietic-stem-and-progenitor-cells
#15
Christopher A Vakulskas, Daniel P Dever, Garrett R Rettig, Rolf Turk, Ashley M Jacobi, Michael A Collingwood, Nicole M Bode, Matthew S McNeill, Shuqi Yan, Joab Camarena, Ciaran M Lee, So Hyun Park, Volker Wiebking, Rasmus O Bak, Natalia Gomez-Ospina, Mara Pavel-Dinu, Wenchao Sun, Gang Bao, Matthew H Porteus, Mark A Behlke
Translation of the CRISPR-Cas9 system to human therapeutics holds high promise. However, specificity remains a concern especially when modifying stem cell populations. We show that existing rationally engineered Cas9 high-fidelity variants have reduced on-target activity when using the therapeutically relevant ribonucleoprotein (RNP) delivery method. Therefore, we devised an unbiased bacterial screen to isolate variants that retain activity in the RNP format. Introduction of a single point mutation, p.R691A, in Cas9 (high-fidelity (HiFi) Cas9) retained the high on-target activity of Cas9 while reducing off-target editing...
August 2018: Nature Medicine
https://www.readbyqxmd.com/read/30079801/glucocorticoid-receptor-single-nucleotide-polymorphisms-are-associated-with-acute-crisis-pain-in-sickle-cell-disease
#16
Ellie H Jhun, Nilanjana Sadhu, Yingwei Yao, Ying He, Robert E Molokie, Diana J Wilkie, Zaijie Jim Wang
AIM: Pain in sickle cell disease patients is heterogeneous and genetic polymorphisms may predispose an individual to varied vulnerability to painful events. We studied the association of SNPs in the glucocorticoid receptor gene (NR3C1) with pain in sickle cell disease. METHOD: Acute pain was scored as the number of utilizations due to crisis pain in a 12-month period. Chronic pain was calculated as the Composite Pain Index score. RESULTS & CONCLUSION: rs33389 T allele (IRR = 1...
August 1, 2018: Pharmacogenomics
https://www.readbyqxmd.com/read/30077973/patient-reported-experience-measure-in-sickle-cell-disease
#17
Subarna Chakravorty, Amy Tallett, Cara Witwicki, Harriet Hay, Catherine Mkandawire, Avanelle Ogundipe, Patrick Ojeer, Antonia Whitaker, Jessica Thompson, Stephen Sizmur, Ganesh Sathyamoorthy, John O Warner
OBJECTIVES: To develop patient-reported experience measure surveys for patients with sickle cell disease (SCD) to understand their healthcare and lived experience in the UK and for their use in future to inform healthcare service development. DESIGN: Picker methodology was used as follows: (1) qualitative scoping by focus group discussions; (2) questionnaire development through stakeholder consultations; (3) construct validation of questionnaires through cognitive testing; and (4) further assessment of construct validity by a nationwide pilot survey...
August 4, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/30076115/the-genetic-landscape-of-cerebral-steno-occlusive-arteriopathy-and-stroke-in-sickle-cell-anemia
#18
REVIEW
Catherine Amlie-Lefond, Jonathan Flanagan, Julie Kanter, William B Dobyns
Sickle cell disease (SCD) is one of the most common autosomal recessive diseases in humans, occurring at a frequency of 1 in 365 African-American and 1 in 50 sub-Saharan African births. Despite progress in managing complications of SCD, these remain a major health burden worldwide. Stroke is a common and serious complication of SCD, most often associated with steno-occlusive cerebral arteriopathy, but little is known about its pathogenesis. Transcranial Doppler ultrasonography is currently the only predictive test for future development of stroke in patients with sickle cell anemia and is used to guide preventative treatment...
July 31, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/30076112/pain-management-issues-as-part-of-the-comprehensive-care-of-patients-with-sickle-cell-disease
#19
REVIEW
Bhaskar V K S Lakkakula, Radharani Sahoo, Henu Verma, Saikrishna Lakkakula
BACKGROUND: Vaso-occlusive pain crisis is one of the primary complications of sickle cell disease (SCD) and is responsible for the majority of hospital visits in patients with SCD. Stints of severe pain can last for hours to days and are difficult to treat and manage, often resulting in drastically reduced quality of life. PURPOSE: Our purpose is to provide an overview of pain management issues in SCD populations. METHODS: We explored literature using PubMed and Embase for the etiology and management of pain in SCD...
July 31, 2018: Pain Management Nursing: Official Journal of the American Society of Pain Management Nurses
https://www.readbyqxmd.com/read/30076048/inflammation-hemolysis-and-erythropoiesis-lead-to-competitive-regulation-of-hepcidin-and-possibly-systemic-iron-status-in-sickle-cell-disease
#20
Yelena Z Ginzburg, Jeffrey Glassberg
No abstract text is available yet for this article.
July 31, 2018: EBioMedicine
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