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Aikaterini Gravia, Vasiliki Chondrou, Alexandra Kolliopoulou, Alexandra Kourakli, Anne John, Argyris Symeonidis, Bassam R Ali, Argyro Sgourou, Adamantia Papachatzopoulou, Theodora Katsila, George P Patrinos
AIMS: Hemoglobinopathies, particularly β-thalassemia and sickle cell disease, are characterized by great phenotypic variability in terms of disease severity, while notable differences have been observed in hydroxyurea treatment efficacy. In both cases, the observed phenotypic diversity is mostly dependent on the elevated fetal hemoglobin levels, resulting from the persistent fetal globin gene expression in the adult erythroid stage orchestrated by intricate mechanisms that still remain only partly understood...
October 21, 2016: Pharmacogenomics
Michael M Dowling, Charles T Quinn, Claudio Ramaciotti, Julie Kanter, Ifeyinwa Osunkwo, Baba Inusa, Rathi Iyer, Janet L Kwiatkowski, Clarissa Johnson, Melissa Rhodes, William Owen, John J Strouse, Julie A Panepinto, Lynne Neumayr, Sharada Sarnaik, Patricia A Plumb, Nomazulu Dlamini, Fenella Kirkham, Linda S Hynan
'Paradoxical' embolization via intracardiac or intrapulmonary right-to-left shunts (RLS) is an established cause of stroke. Hypercoagulable states and increased right heart pressure, which both occur in sickle cell anaemia (SCA), predispose to paradoxical embolization. We hypothesized that children with SCA and overt stroke (SCA + stroke) have an increased prevalence of potential RLS. We performed contrasted transthoracic echocardiograms on 147 children (aged 2-19 years) with SCA + stroke) mean age 12·7 ± 4·8 years, 54·4% male) and a control group without SCA or stroke (n = 123; mean age 12·1 ± 4·9 years, 53·3% male)...
October 21, 2016: British Journal of Haematology
Benjamin Roche, Virginie Rougeron, Lluis Quintana-Murci, François Renaud, Jessica Lee Abbate, Franck Prugnolle
Malarial infections have long been recognized as a driver of human evolution, as demonstrated by the influence of Plasmodium falciparum on sickle-cell anemia persistence. Duffy-negativity is another blood disorder thought to have been selected because it confers nearly complete resistance against Plasmodium vivax infection. Recent evidence suggests that the benefits of being Duffy-negative cannot be expected to play a strong selective pressure on humans, whereas its costs cannot be considered as negligible...
October 17, 2016: Trends in Parasitology
Susanna A Curtis, Neeraja Danda, Zipora Etzion, Hillel W Cohen, Henny H Billett
INTRODUCTION: White Blood Cell (WBC) count, %HbF, and serum creatinine (Cr), have been identified as markers for increased mortality in sickle cell anemia (SCA) but no studies have examined the significance of longitudinal rate of change in these or other biomarkers for SCA individuals. METHODS: Clinical, demographic and laboratory data from SCA patients seen in 2002 by our hospital system were obtained. Those who were still followed in 2012 (survival cohort) were compared to those who had died in the interim (mortality cohort)...
2016: PloS One
Robin Z Hayeems, Charlotte Moore Hepburn, Pranesh Chakraborty, Isaac Odame, Joe Clarke, Fiona A Miller, Adalsteinn D Brown
No abstract text is available yet for this article.
October 20, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Jennifer Hamm, Lee Hilliard, Thomas Howard, Jeffrey Lebensburger
Traveling to and from university-based clinics is a major health care barrier for children with sickle cell disease in Alabama. To reduce this barrier, the University of Alabama at Birmingham (UAB) developed satellite clinics. This study seeks to determine if these satellite clinics provide a similar level of comprehensive care when compared with the university-based clinic using four surrogate markers: 1) attendance rates, 2) percentage of patients on hydroxyurea, 3) percentage of screening MRIs obtained, and 4) percentage of transcranial dopplers (TCD) completed...
2016: Journal of Health Care for the Poor and Underserved
Maa-Ohui Quarmyne, Wei Dong, Rodney Theodore, Sonia Anand, Vaughn Barry, Olufolake Adisa, Iris D Buchanan, James Bost, Robert C Brown, Clinton H Joiner, Peter A Lane
The clinical efficacy of hydroxyurea in patients with sickle cell anemia (SCA) has been well established. However, data about its clinical effectiveness in practice is limited. We evaluated the clinical effectiveness of hydroxyurea in a large pediatric population using a retrospective cohort, pre-post treatment study design to control for disease severity selection bias. The cohort included children with SCA (SS, Sβ(0) thalassemia) who received care at Children's Healthcare of Atlanta (CHOA) and who initiated hydroxyurea in 2009-2011...
October 19, 2016: American Journal of Hematology
Kelsey E Smith, Jeffrey Schatz
Children with sickle cell disease (SCD) are at risk for working memory deficits due to multiple disease processes. We assessed working memory abilities and related functions in 32 school-age children with SCD and 85 matched comparison children using Baddeley's working memory model as a framework. Children with SCD performed worse than controls for working memory, central executive function, and processing/rehearsal speed. Central executive function was found to mediate the relationship between SCD status and working memory, but processing speed did not...
October 19, 2016: Developmental Neuropsychology
Shannon Kelly, Keith Quirolo, Anne Marsh, Lynne Neumayr, Alicia Garcia, Brian Custer
BACKGROUND: Chronic red blood cell (RBC) transfusion therapy (CTT) is an integral component of the management of severe sickle cell disease (SCD) and can prevent complications, such as stroke. RBC units can be administered via simple transfusion or exchange transfusion, and erythrocytapheresis (automated RBC exchange transfusion [aRBX]), is increasingly used for CTT. Comparisons of simple and aRBX transfusions are limited, and the current scope of aRBX use is not known. STUDY DESIGN AND METHODS: We administered a survey to define current transfusion practices for CTT and performed a review of the erythrocytapheresis literature...
October 19, 2016: Transfusion
Kyungho Kim, Jing Li, Andrew Barazia, Alan Tseng, Seock-Won Youn, Giovanni Abbadessa, Yi Yu, Brian Schwartz, Robert K Andrews, Victor R Gordeuk, Jaehyung Cho
Previous studies identified the Ser/Thr protein kinase, AKT, as a therapeutic target for thromboinflammatory diseases. Here we report that specific inhibition of AKT with ARQ 092, an orally-available AKT inhibitor currently in Phase Ib clinical trials as an anti-cancer drug, attenuates the adhesive function of neutrophils and platelets from sickle cell disease patients in vitro and cell-cell interactions in a mouse model of sickle cell disease. Studies using neutrophils and platelets isolated from sickle cell disease patients revealed that treatment with 50-500 nM ARQ 092 significantly blocks αMβ2 integrin function in neutrophils and reduces P-selectin exposure and glycoprotein Ib/IX/V-mediated agglutination in platelets...
October 6, 2016: Haematologica
Kobina Dufu, Josh Lehrer-Graiwer, Eleanor Ramos, Donna Oksenberg
In sickle cell trait (SCT), hemoglobin A (HbA) and S (HbS) are co-expressed in each red blood cell (RBC). While homozygous expression of HbS (HbSS) leads to polymerization and sickling of RBCs resulting in sickle cell disease (SCD) characterized by hemolytic anemia, painful vaso-occlusive episodes and shortened life-span, SCT is considered a benign condition usually with minor or no complications related to sickling. However, physical activities that cause increased tissue oxygen demand, dehydration and/or metabolic acidosis leads to increased HbS polymerization and life-threatening complications including death...
September 28, 2016: Hematology Reports
Abel Makubi, Philip Sasi, Mariam Ngaeje, Enrico M Novelli, Bruno P Mmbando, Mark T Gladwin, Julie Makani
BACKGROUND: Hydroxyurea (HU) has been demonstrated to be efficacious in reducing complications in individuals with sickle cell anemia (SCA) but poor adherence is a barrier. Directly Observed Therapy (DOT) has been shown to improve adherence in various chronic diseases but there is limited data in adults with SCA. METHODS AND DESIGN: To examine the effect of mobile-directly observed therapy (mDOT) on adherence to HU (mDOT-HuA) in adults with SCA at Muhimbili National Hospital in Tanzania...
October 18, 2016: BMC Medical Research Methodology
Mir A Hossain, Yong Shen, Isaac Knudson, Shaleen Thakur, Jared R Stees, Yi Qiu, Betty S Pace, Kenneth R Peterson, Jörg Bungert
Reactivation of γ-globin expression has been shown to ameliorate disease phenotypes associated with mutations in the adult β-globin gene, including sickle cell disease. Specific mutations in the promoter of the γ-globin genes are known to prevent repression of the genes in the adult and thus lead to hereditary persistence of fetal hemoglobin. One such hereditary persistence of fetal hemoglobin is associated with a sequence located 567 bp upstream of the Gγ-globin gene which assembles a GATA-containing repressor complex...
October 18, 2016: Molecular Therapy. Nucleic Acids
Robert G Salomon
Our research on the roles of lipid oxidation in human disease is guided by chemical intuition. For example, we postulated that 2-(ω-carboxyethyl)pyrrole (CEP) derivatives of primary amines would be produced through covalent adduction of a γ-hydroxyalkenal generated, in turn, through oxidative fragmentation of docosahexaenoates. Our studies confirmed the natural occurrence of this chemistry, and the biological activities of these natural products and their extensive involvements in human physiology (wound healing) and pathology (age-related macular degeneration, autism, atherosclerosis, sickle cell disease and tumor growth) continue to emerge...
October 17, 2016: Chemical Research in Toxicology
Jesse J Jung, Michael H Chen, Caroline R Frambach, Soraya Rofagha, Scott S Lee
PURPOSE: To compare the spectral domain and swept source optical coherence tomography angiography findings in two cases of sickle cell maculopathy. METHODS: A 53-year-old man and a 24-year-old man both with sickle cell disease (hemoglobin SS) presented with no visual complaints; Humphrey visual field testing demonstrated asymptomatic paracentral scotomas that extended nasally in the involved eyes. Clinical examination and multimodal imaging including spectral domain and swept source optical coherence tomography, and spectral domain optical coherence tomography angiography and swept source optical coherence tomography angiography (Carl Zeiss Meditec Inc, Dublin, CA) were performed...
October 5, 2016: Retinal Cases & Brief Reports
Mya S Thein, Swee L Thein
No abstract text is available yet for this article.
June 2016: Indian Journal of Medical Research
David C Rees, Valentine A M Brousse
No abstract text is available yet for this article.
June 2016: Indian Journal of Medical Research
Georgios Tsivgoulis, Andrei V Alexandrov
PURPOSE OF REVIEW: Low cost, avoidance of irradiation, and high temporal resolution are inherent advantages of ultrasound imaging that translate into multiple clinical uses in many domains of neurology. This article presents clinical uses of ultrasound examination in cerebrovascular, neurodegenerative, and peripheral nervous system diseases. RECENT FINDINGS: Modern treatment and prevention of ischemic stroke rely on prompt diagnosis. Ultrasonography has found a place as a noninvasive screening test and bedside technique that provides estimates of the degree of stenosis as well as hemodynamic and structural information about intracranial and extracranial vessels in real time...
October 2016: Continuum: Lifelong Learning in Neurology
Naoya Uchida, Juan J Haro-Mora, Atsushi Fujita, Duck-Yeon Lee, Thomas Winkler, Matthew M Hsieh, John F Tisdale
Human embryonic stem (ES) cells and induced pluripotent stem (iPS) cells represent an ideal source for in vitro modeling of erythropoiesis and a potential alternative source for red blood cell transfusions. However, iPS cell-derived erythroid cells predominantly produce ε- and γ-globin without β-globin production. We recently demonstrated that ES cell-derived sacs (ES sacs), known to express hemangioblast markers, allow for efficient erythroid cell generation with β-globin production. In this study, we generated several iPS cell lines derived from bone marrow stromal cells (MSCs) and peripheral blood erythroid progenitors (EPs) from sickle cell disease patients, and evaluated hematopoietic stem/progenitor cell (HSPC) generation after iPS sac induction as well as subsequent erythroid differentiation...
October 14, 2016: Stem Cells
Joe McArdle, Georgie Tiller
No abstract text is available yet for this article.
October 2016: Journal of Paediatrics and Child Health
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