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"Sickle Cell Anemia"

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https://www.readbyqxmd.com/read/29049291/a-deep-convolutional-neural-network-for-classification-of-red-blood-cells-in-sickle-cell-anemia
#1
Mengjia Xu, Dimitrios P Papageorgiou, Sabia Z Abidi, Ming Dao, Hong Zhao, George Em Karniadakis
Sickle cell disease (SCD) is a hematological disorder leading to blood vessel occlusion accompanied by painful episodes and even death. Red blood cells (RBCs) of SCD patients have diverse shapes that reveal important biomechanical and bio-rheological characteristics, e.g. their density, fragility, adhesive properties, etc. Hence, having an objective and effective way of RBC shape quantification and classification will lead to better insights and eventual better prognosis of the disease. To this end, we have developed an automated, high-throughput, ex-vivo RBC shape classification framework that consists of three stages...
October 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/29038918/mechanisms-and-causality-in-molecular-diseases
#2
Shannon E Keenan, Stanislav Y Shvartsman
How is a disease contracted, and how does it progress through the body? Answers to these questions are fundamental to understanding both basic biology and medicine. Advances in the biomedical sciences continue to provide more tools to address these fundamental questions and to uncover questions that have not been thought of before. Despite these major advances, we are still facing conceptual and technical challenges when learning about the etiology of disease, especially for genetic diseases. In this review, we illustrate this point by discussing the causal links between molecular mechanisms and systems-level phenotypes in molecular diseases...
October 16, 2017: History and Philosophy of the Life Sciences
https://www.readbyqxmd.com/read/29032814/healthy-dental-pulp-oxygen-saturation-rates-in-subjects-with-homozygous-sickle-cell-anemia-a-cross-sectional-study-nested-in-a-cohort
#3
Soraia de Fátima Carvalho Souza, Erika Bárbara Abreu Fonseca Thomaz, Cyrene Piazera Silva Costa
INTRODUCTION: To compare the percentage of arterial oxygen saturation (SpO2) in healthy teeth with confirmed pulp vitality between individuals with sickle cell anemia (HbSS) and normal hemoglobin A (HbAA). METHODS: This is a cross-sectional study nested within a cohort. Samples (n = 2543) comprised teeth with intact crowns and pulp vitality confirmed by thermal sensitivity tests and no history of caries, periodontal disease, or dental trauma. A total of 728 teeth of 113 individuals with HbSS and 1815 teeth of 246 individuals with HbAA were evaluated...
October 9, 2017: Journal of Endodontics
https://www.readbyqxmd.com/read/29026401/the-sensitivity-of-na-k-atpase-as-an-indicator-of-blood-diseases
#4
Abulnaja Kkalid Omar, Kherd Ali Ahmed, Nawal Mohammed Helmi, Kumosani Taha Abdullah, Mohamad H Qarii, Huwait Etimad Hasan, Albukhari Ashwag, Alaama Mohammed Nabil, Al-Ghamdi Maryam Abdu, Moselhy Said Salama
BACKGROUND: Blood-related hereditary diseases are widespread in Eastern and SouthWestern regions of Saudi Arabia until recently. In this study, we used Na(+), K(+)ATPase as an enzymatic indicator for the diagnosis of the diseases. MATERIALS AND METHODS: Individuals with different blood diseases (iron deficiency (n=13), anemia (n=14), thalassemia (n=16) and sickle cell anemia (n=12) were studied for Na(+), K(+)-ATPase activity in the plasma membrane of red blood cell and compared with those of the healthy ones (n=20) of the same age and gender living in Jeddah, Saudi Arabia...
March 2017: African Health Sciences
https://www.readbyqxmd.com/read/29024896/identification-of-a-soluble-guanylate-cyclase-in-rbcs-preserved-activity-in-patients-with-coronary-artery-disease
#5
Miriam M Cortese-Krott, Evanthia Mergia, Christian M Kramer, Wiebke Lückstädt, Jiangning Yang, Georg Wolff, Christina Panknin, Thilo Bracht, Barbara Sitek, John Pernow, Johannes-Peter Stasch, Martin Feelisch, Doris Koesling, Malte Kelm
Endothelial dysfunction is associated with decreased NO bioavailability and impaired activation of the NO receptor soluble guanylate cyclase (sGC) in the vasculature and in platelets. Red blood cells (RBCs) are known to produce NO under hypoxic and normoxic conditions; however evidence of expression and/or activity of sGC and downstream signaling pathway including phopshodiesterase (PDE)-5 and protein kinase G (PKG) in RBCs is still controversial. In the present study, we aimed to investigate whether RBCs carry a functional sGC signaling pathway and to address whether this pathway is compromised in coronary artery disease (CAD)...
September 8, 2017: Redox Biology
https://www.readbyqxmd.com/read/28982618/three-piece-penile-prosthesis-implantation-in-refractory-ischemic-priapism-tips-and-tricks
#6
Raul I Clavijo, Luís Felipe Sávio, Nachiketh Soodana Prakash, Thomas Masterson, J Francois Eid, Ranjith Ramasamy
INTRODUCTION AND OBJECTIVES: Implantation of a penile prosthesis in a patient with significant corporal fibrosis can pose a significant challenge to the surgeon, necessitating the knowledge of specific techniques used to dilate and close aggressively scarred corpora. The objective of our instructional video is to discuss 2 techniques used to approach corporal fibrosis: proper and safe use of cavernotomes for dilation and use of narrower prostheses. METHODS: In this video, we present a 53-year-old man with a history of priapism 3 years ago that lasted 4 days in the setting of trazodone use...
August 2017: Urology
https://www.readbyqxmd.com/read/28972009/adverse-effect-of-hydroxyurea-on-spermatogenesis-in-patients-with-sickle-cell-anemia-after-six-months-of-treatment
#7
Isabelle Berthaut, Dora Bachir, Salma Kotti, Céline Chalas, Katia Stankovic, Florence Eustache, Célia Ravel, Anoosha Habibi, Sylvie Brailly-Tabard, Laurence Lévy-Dutel, Alexandre Bleibtreu, Tabassome Simon, Frédéric Galactéros, François Lionnet, Jacqueline Mandelbaum
No abstract text is available yet for this article.
September 28, 2017: Blood
https://www.readbyqxmd.com/read/28969994/central-sensitization-associated-with-low-fetal-hemoglobin-levels-in-adults-with-sickle-cell-anemia
#8
Deepika S Darbari, Kathleen J Vaughan, Katherine Roskom, Cassie Seamon, Lena Diaw, Meghan Quinn, Anna Conrey, Alan N Schechter, Jennifer A Haythornthwaite, Myron A Waclawiw, Gwenyth R Wallen, Inna Belfer, James G Taylor
BACKGROUND AND AIMS: Pain is the hallmark of sickle cell anemia (SCA), presenting as recurrent acute events or chronic pain. Central sensitization, or enhanced excitability of the central nervous system, alters pain processing and contributes to the maintenance of chronic pain. Individuals with SCA demonstrate enhanced sensitivity to painful stimuli however central mechanisms of pain have not been fully explored. We hypothesized that adults with SCA would show evidence of central sensitization as observed in other diseases of chronic pain...
September 29, 2017: Scandinavian Journal of Pain
https://www.readbyqxmd.com/read/28953104/a-teenager-with-sickle-cell-disease-and-scalp-swelling
#9
Courtney E Nelson, Richard J Scarfone
An intracranial bleed with a midline shift is a potentially life-threatening clinical condition. We present the unusual case of a 13-year-old boy with sickle cell disease who had numerous emergency department visits for a scalp hematoma and was subsequently determined to have subdural and epidural hematomas with midline shift, associated with a skull bone infarction. We review the pathophysiology of this unusual condition and emphasize the importance of including it in the differential diagnosis of any child with sickle cell anemia presenting with a nontraumatic scalp hematoma...
September 25, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28951038/losartan-therapy-decreases-albuminuria-with-stable-glomerular-filtration-and-permselectivity-in-sickle-cell-anemia
#10
Marianne E Yee, Peter A Lane, David R Archer, Clinton H Joiner, James R Eckman, Antonio Guasch
Sickle cell nephropathy begins with hyperfiltration and microalbuminuria and may progress to renal failure. The aim of this study was to determine the effects of losartan on glomerular function and albumin excretion in sickle cell anemia (SCA). Individuals with SCA on hydroxyurea with persistent albuminuria were enrolled in a 1-year study of losartan. Glomerular filtration rate (GFR) measured by iohexol clearance, albumin excretion rate (AER), and fractional clearance of dextran were assessed at baseline, short-term (1-2month), and long-term (≥12month) intervals...
September 21, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28941328/inducing-indel-mutation-in-the-sox6-gene-by-zinc-finger-nuclease-for-gamma-reactivation-an-approach-towards-gene-therapy-of-beta-thalassemia
#11
Mehran Modares, Laleh Shariati, Zahra Hejazi, Mansoureh Shahbazi, Mohammad Amin Tabatabaiefar, Hossein Khanahmad
β-thalassemia is a common autosomal recessive disorder characterized by a deficiency in the synthesis of β-chains.Evidences show that increased HbF levels improve the symptoms in patients with β-thalassemia or sickle cell anemia. In this study, ZFN technology was applied to induce a mutation in the binding domain region of SOX6 to reactivate γ-globin expression. The sequences coding for ZFP arrays were designed and sub cloned in TDH plus as a transfer vector. The ZFN expression was confirmed using Western blot analysis...
September 23, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28932402/comparative-study-of-sickle-cell-anemia-and-hemoglobin-sc-disease-clinical-characterization-laboratory-biomarkers-and-genetic-profiles
#12
Milena Magalhães Aleluia, Teresa Cristina Cardoso Fonseca, Regiana Quinto Souza, Fábia Idalina Neves, Caroline Conceição da Guarda, Rayra Pereira Santiago, Bruna Laís Almeida Cunha, Camylla Villas Boas Figueiredo, Sânzio Silva Santana, Silvana Sousa da Paz, Júnia Raquel Dutra Ferreira, Bruno Antônio Veloso Cerqueira, Marilda de Souza Gonçalves
BACKGROUND: In this study, we evaluate the association of different clinical profiles, laboratory and genetic biomarkers in patients with sickle cell anemia (SCA) and hemoglobin SC disease (HbSC) in attempt to characterize the sickle cell disease (SCD) genotypes. METHODS: We conducted a cross-sectional study from 2013 to 2014 in 200 SCD individuals (141 with SCA; 59 with HbSC) and analyzed demographic data to characterize the study population. In addition, we determined the association of hematological, biochemical and genetic markers including the β(S)-globin gene haplotypes and the 3...
2017: BMC Hematology
https://www.readbyqxmd.com/read/28930183/substituting-sodium-hydrosulfite-with-sodium-metabisulfite-improves-long-term-stability-of-a-distributable-paper-based-test-kit-for-point-of-care-screening-for-sickle-cell-anemia
#13
Kian Torabian, Dalia Lezzar, Nathaniel Z Piety, Alex George, Sergey S Shevkoplyas
Sickle cell anemia (SCA) is a genetic blood disorder that is particularly lethal in early childhood. Universal newborn screening programs and subsequent early treatment are known to drastically reduce under-five SCA mortality. However, in resource-limited settings, cost and infrastructure constraints limit the effectiveness of laboratory-based SCA screening programs. To address this limitation our laboratory previously developed a low-cost, equipment-free, point-of-care, paper-based SCA test. Here, we improved the stability and performance of the test by replacing sodium hydrosulfite (HS), a key reducing agent in the hemoglobin solubility buffer which is not stable in aqueous solutions, with sodium metabisulfite (MS)...
September 20, 2017: Biosensors
https://www.readbyqxmd.com/read/28927555/comparative-study-of-clinical-presentation-and-hematological-indices-in-hospitalized-sickle-cell-patients-with-severe-plasmodium-falciparum-malaria
#14
Prasanta Purohit, Pradeep Kumar Mohanty, Siris Patel, Padmalaya Das, Jogeswar Panigrahi, Kishalaya Das
BACKGROUND: Sickle-cell-gene has a high frequency in malaria endemic regions. In India, though the prevalence of both sickle-cell-gene and malaria are high, no study has been carried out. This study aims to find out the possible differences in hematological and clinical parameters in severe falciparum malaria with respect to sickle cell genotypes. METHODS: Five hundred fourteen adults with severe falciparum malaria hospitalized in Department of Medicine, Veer Surendra Sai Institute of Medical Sciences and Research, Burla, between August, 2010 to December, 2014 were included and categorized on the basis of sickle cell genotypes...
September 15, 2017: Journal of Infection and Public Health
https://www.readbyqxmd.com/read/28913922/a-clinically-meaningful-fetal-hemoglobin-threshold-for-children-with-sickle-cell-anemia-during-hydroxyurea-therapy
#15
Jeremie H Estepp, Matthew P Smeltzer, Guolian Kang, Chen Li, Winfred C Wang, Christina Abrams, Banu Aygun, Russell E Ware, Kerri Nottage, Jane S Hankins
Hydroxyurea has proven clinical benefits and is recommended to be offered to all children with sickle cell anemia (SCA), but the optimal dosing regimen remains controversial. Induction of red blood cell fetal hemoglobin (HbF) by hydroxyurea appears to be dose-dependent. However, it is unknown whether maximizing HbF% improves clinical outcomes. HUSTLE (NCT00305175) is a prospective observational study with a primary goal of describing the long-term clinical effects of hydroxyurea escalated to maximal tolerated dose (MTD) in children with SCA...
September 14, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28911832/association-of-silent-infarcts-in-sickle-cell-anemia-with-decreased-annexin-a5-resistance
#16
Kerry A Morrone, Lydia H Pecker, Jacob Rand, Jennifer Davila, Suzette Oyeku, Jane A Little, Xue Xiaonan, Deepa Manwani
BACKGROUND: Sickle cell anemia (SCA) is characterized by abnormally shaped, adhesive RBCs that interact with white blood cells and the endothelium, leading to chronic hemolysis, vasculopathy and a prothrombotic state. About 10% of subjects with a thrombotic event in the general population will have an associated antiphospholipid (aPL) antibody. One proposed mechanism for the thrombophilic nature of aPL antibodies is the disruption of the potent anticoagulant annexin A5 or Annexin A5 resistance (A5R)...
September 4, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28904678/-epidemiological-profile-of-hemoglobinopathies-a-cross-sectional-and-descriptive-index-case-study
#17
Fatima Dahmani, Souad Benkirane, Jaafar Kouzih, Aziz Woumki, Hassan Mamad, Azlarab Masrar
Hemoglobinopathies are congenital disorders resultimg from hemoglobin abnormalities. Major forms are often severe, their management is difficult and associated with a great psychosocial impact on patients and their families. They are classified as rare diseases and are still insufficiently known by health professionals. This lack of knowledge is at the origin of diagnostic errors, delay in their management and therefore high morbidity and mortality rate for these patients. In 2008, the World Health Organization (WHO) has published data on hemoglobinopathies epidemiology: more than 330...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28891545/protein-c-and-antithrombin-levels-in-patients-with-sickle-cell-anemia-in-ahmadu-bello-university-teaching-hospital-zaria-nigeria
#18
I U Kusfa, A I Mamman, S M Aminu, A Hassan, H M Muktar
BACKGROUND: Alterations in the components of hemostasis, namely platelet function, the procoagulant, anticoagulant, and the fibrinolytic systems, are observed in sickle cell anemia (SCA) and are in favor of a procoagulant phenotype. Therefore, study of protein C and antithrombin (AT) levels in patients with SCA in steady state may be used in the treatment and/or prevention of SCA-related thrombotic complications. We studied the changes of these naturally occurring anticoagulants in patients with SCA attending the sickle cell clinic in Ahmadu Bello University Teaching Hospital, Zaria...
August 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28884840/hydroxycarbamide-in-children-with-sickle-cell-anemia-after-first-dose-vs-chronic-therapy-pharmacokinetics-and-predictive-models-for-drug-exposure
#19
Jeremie H Estepp, Paweł Wiczling, Joseph Moen, Guolian Kang, Joana Marie Mack, Robert Liem, Julie A Panepinto, Uttam Garg, Gregory Kearns, Kathleen A Neville
AIMS: The purpose of this work was to (1) compare pharmacokinetic (PK) parameters for hydroxycarbamide in children receiving their first dose (HCnew ) versus those receiving chronic therapy (HCchronic ), (2) assess the external validity of a published PK dosing strategy, and (3) explore the accuracy of dosing strategies based on a limited number of HC measurements. METHODS: Utilizing data from two prospective, multicenter trials of hydroxycarbamide (Pharmacokinetics of Liquid Hydroxyurea in Pediatric Patients with Sickle Cell Anemia; NCT01506544 and Single-Dose (SD) and Steady-State (SS) Pharmacokinetics of Hydroxyurea in Children and Adolescents with Sickle Cell Disease), plasma drug concentration versus time profiles were evaluated with a model independent approach in the HCnew and HCchronic groups...
September 8, 2017: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28868627/hydroxyurea-prescription-availability-and-use-for-children-with-sickle-cell-disease-in-italy-results-of-a-national-multicenter-survey
#20
Raffaella Colombatti, Giovanni Palazzi, Nicoletta Masera, Lucia Dora Notarangelo, Elisa Bonetti, Piera Samperi, Angelica Barone, Silverio Perrotta, Elena Facchini, Maurizio Miano, Giovanni Carlo Del Vecchio, Maria Elena Guerzoni, Paola Corti, Federica Menzato, Simone Cesaro, Maddalena Casale, Paolo Rigano, Gian Luca Forni, Giovanna Russo, Laura Sainati
BACKGROUND: The number of patients with sickle cell disease (SCD) has increased in Italy in the past decade due to immigration. In spite of the established efficacy of hydroxyurea (HU) in childhood, population-based data regarding its prescription and effectiveness come mainly from studies performed in adults or outside Europe. POPULATION AND METHODS: The Hydroxyurea in SCD: A Large Nation-wide Cohort Study from Italy was a retrospective cohort study of adult and pediatric patients with SCD attending 32 centers...
September 4, 2017: Pediatric Blood & Cancer
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