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"Sickle Cell Anemia"

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https://www.readbyqxmd.com/read/29625861/-targeted-newborn-screening-for-sickle-cell-anemia-sickling-test-emmel-test-boundaries-in-the-prenatal-assessment-in-west-african-area
#1
D A Diallo, A Guindo, B A Touré, Y S Sarro, M Sima, O Tessougué, M A Baraika, P Guindo, M Traoré, M Diallo, A Dorie
BACKGROUND: Newborn screening for sickle cell anemia is necessary in Africa where the disease is more frequent. Hemoglobin electrophoresis is used for screening, but is limited by a high cost and difficult access. Sickling test (Emmel test), which is more affordable and technically more accessible, is often requested for prenatal assessment of pregnant women in West African areas to reserve screening for newborns from mothers in whom the positive sickling test attests the presence of hemoglobin S...
April 3, 2018: Revue D'épidémiologie et de Santé Publique
https://www.readbyqxmd.com/read/29620547/vitamin-d-deficiency-in-sickle-cell-disease-patients-in-the-eastern-province-of-saudi-arabia
#2
Ali AlJama, Mohammed AlKhalifah, Ibrahim Abdulla Al-Dabbous, Ghada Alqudaihi
BACKGROUND: Vitamin D deficiency (VDD) is a major global health problem. In sickle cell disease (SCD), VDD is highly prevalent, reaching up to 96% of populations. VDD may contribute to many of the complications of SCD. OBJECTIVE: Estimate the 25-hydroxyvitamin D [25(OH)D] level and the frequency of VDD and insufficiency among among SCD patients by age group and disease status. DESIGN: Analytical cross-sectional. SETTING: Ministry of Health (MOH) secondary care hospital...
March 2018: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/29619129/sickle-cell-anemia-patients-in-use-of-hydroxyurea-association-between-polymorphisms-in-genes-encoding-metabolizing-drug-enzymes-and-laboratory-parameters
#3
Sètondji Cocou Modeste Alexandre Yahouédéhou, Magda Oliveira Seixas Carvalho, Rodrigo Mota Oliveira, Rayra Pereira Santiago, Caroline Conceição da Guarda, Suellen Pinheiro Carvalho, Júnia Raquel Dutra Ferreira, Milena Magalhães Aleluia, Elisângela Vitória Adorno, Marilda de Souza Gonçalves
This study investigated associations between SNPs in genes encoding metabolizing drug enzymes and laboratory parameters in sickle cell anemia patients under hydroxyurea (SCA-HU+ ). We evaluated hematologic and biochemical parameters by electronic methods and SNPs by PCR-RFLP and multiplex PCR in 35 SCA-HU+ patients and 67 SCA-HU- patients. The HbS, total cholesterol, lactate dehydrogenase, aspartate aminotransferase, total bilirubin and fractions levels, and leukocyte, eosinophil, monocyte, and erythroblast counts were reduced in SCA-HU+ patients ( p < 0...
2018: Disease Markers
https://www.readbyqxmd.com/read/29614631/simple-chronic-transfusion-therapy-a-crucial-therapeutic-option-for-sickle-cell-disease-improves-but-does-not-normalize-blood-rheology-what-should-be-our-goals-for-transfusion-therapy
#4
Jon A Detterich
Sickle cell anemia is characterized by a mutation resulting in the formation of an abnormal beta-hemoglobin called hemoglobin S. Hemoglobin S polymerizes upon deoxygenation, causing impaired red blood cell deformability and increased blood viscosity at equivalent hematocrits. Thus, sickle cell disease is a hemorheologic disease that results in various pathologic processes involving multiple organ systems including the lungs, heart, kidneys and brain. Red blood cell mechanics and the perturbations on blood flow-endothelial interaction underlie much of the pathology found in sickle cell disease...
2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29614630/blood-rheological-abnormalities-in-sickle-cell-anemia
#5
Philippe Connes, Céline Renoux, Marc Romana, Manouk Abkarian, Philippe Joly, Cyril Martin, Marie-Dominique Hardy-Dessources, Samir K Ballas
This review focuses on the contribution of abnormal blood rheology in the pathophysiology of sickle cell anemia (SCA). SCA is characterized by a reduction of red blood cell (RBC) deformability but this reduction is very heterogeneous among patients. Recent works have shown that patients with the lowest RBC deformability (measured by ektacytometry) have enhanced hemolysis and would be more prone to develop several complications such as priapism, leg ulcers and glomerulopathy. In contrast, patients with the highest deformability, and not under hydroxyurea therapy, seem to develop more frequently vaso-occlusive like events...
2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29614628/comorbidities-in-aging-patients-with-sickle-cell-disease
#6
Samir K Ballas
Sickle cell disease (SCD) in general and sickle cell anemia in particular is a highly complex disorder both at the molecular and clinical levels. Although the molecular lesion is a single-point mutation, the sickle gene is pleiotropic in nature causing multiple phenotypic expressions that constitute the various complications of the disease. Moreover, despite the fact that SCD is a chronic malady, its manifestations are both acute and chronic. The former include, among other things, the recurrent vaso-occlusive crises (its hallmark) and acute chest syndrome...
2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29614627/sickle-cell-disease-classification-of-clinical-complications-and-approaches-to-preventive-and-therapeutic-management
#7
Samir K Ballas
Sickle cell disease (SCD) is an inherited disorder of hemoglobin structure that has no established cure in adult patients. Cure has been achieved in selected children with sickle cell anemia (SCA) using allogeneic bone marrow transplantation or cord blood transplantation. SCD is essentially a triumvirate of (1) pain syndromes, (2) anemia and its sequelae and (3) organ failure, including infection. Pain, however, is the hallmark of SCD and dominates its clinical picture throughout the life of the patients. The prevalence of these complications varies with age from infancy through adult life...
2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29609623/cross-sectional-study-on-prevalence-of-sickle-cell-alleles-s-and-c-among-patients-with-mild-malaria-in-ivory-coast
#8
Stephane Koui Tossea, Eric Gbessi Adji, Baba Coulibaly, Berenger Ako Ako, David Ngolo Coulibaly, Philippe Joly, Serge-Brice Assi, Andre Toure, Ronan Jambou
OBJECTIVES: Sickle cell anemia is due to a mutations on the betaglobin gene, inducing abnormal hemoglobin. In West Africa the main mutations lead to S or C types of hemoglobin. Patients with homozygote mutations seem protected against severe malaria, but not against mild disease. The prevalence of abnormal hemoglobin among patients attending dispensaries for mild malaria is thus unknown. A retrospective study was conducted to update data on the prevalence of S and C hemoglobin among patients attending dispensaries with mild malaria...
April 2, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/29609192/the-burden-of-indirect-causes-of-maternal-morbidity-and-mortality-in-the-process-of-obstetric-transition-a-cross-sectional-multicenter-study
#9
Jessica Fernandes Cirelli, Fernanda Garanhani Surita, Maria Laura Costa, Mary Angela Parpinelli, Samira Maerrawi Haddad, José Guilherme Cecatti
OBJECTIVE:  The aim of this study is to evaluate the burden of indirect causes of maternal morbidity/mortality in Brazil. METHODS:  Secondary analysis of a multicenter cross-sectional study conducted in 27 referral obstetric units within the Brazilian Network for Surveillance of Severe Maternal Morbidity. RESULTS:  A total of 82,388 women were surveilled: 9,555 women with severe maternal morbidity were included, and 942 (9.9%) of them had indirect causes of morbidity/mortality...
March 2018: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/29607838/estimation-of-malondialdehyde-levels-in-serum-and-saliva-of-children-affected-with-sickle-cell-anemia
#10
Sudhindra Baliga, Minal Chaudhary, Sham Bhat, Pooja Bhansali, Akshat Agrawal, Satwik Gundawar
Background: Sickle cell anemia (SCA) is an inherited disorder of hemoglobin synthesis characterized by deformed erythrocytes. Hemoglobin S present in sickle-shaped erythrocytes exhibits an enhanced rate of auto-oxidation compared with normal hemoglobin A. It produces more of reactive oxygen species (ROS) which promotes oxidatively stressed environment. ROS degrade the membranes of sickle cell erythrocytes composed of polyunsaturated lipids and form malondialdehyde (MDA) as a by-product...
January 2018: Journal of the Indian Society of Pedodontics and Preventive Dentistry
https://www.readbyqxmd.com/read/29590102/common-%C3%AE-globin-variants-modify-hematologic-and-other-clinical-phenotypes-in-sickle-cell-trait-and-disease
#11
Laura M Raffield, Jacob C Ulirsch, Rakhi P Naik, Samuel Lessard, Robert E Handsaker, Deepti Jain, Hyun M Kang, Nathan Pankratz, Paul L Auer, Erik L Bao, Joshua D Smith, Leslie A Lange, Ethan M Lange, Yun Li, Timothy A Thornton, Bessie A Young, Goncalo R Abecasis, Cathy C Laurie, Deborah A Nickerson, Steven A McCarroll, Adolfo Correa, James G Wilson, Guillaume Lettre, Vijay G Sankaran, Alex P Reiner
Co-inheritance of α-thalassemia has a significant protective effect on the severity of complications of sickle cell disease (SCD), including stroke. However, little information exists on the association and interactions for the common African ancestral α-thalassemia mutation (-α3.7 deletion) and β-globin traits (HbS trait [SCT] and HbC trait) on important clinical phenotypes such as red blood cell parameters, anemia, and chronic kidney disease (CKD). In a community-based cohort of 2,916 African Americans from the Jackson Heart Study, we confirmed the expected associations between SCT, HbC trait, and the -α3...
March 28, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29588628/a-robust-mass-spectrometry-method-for-rapid-profiling-of-erythrocyte-ghost-membrane-proteomes
#12
Haddy K S Fye, Paul Mrosso, Lesley Bruce, Marie-Laëtitia Thézénas, Simon Davis, Roman Fischer, Gration L Rwegasira, Julie Makani, Benedikt M Kessler
Background: Red blood cell (RBC) physiology is directly linked to many human disorders associated with low tissue oxygen levels or anemia including chronic obstructive pulmonary disease, congenital heart disease, sleep apnea and sickle cell anemia. Parasites such as Plasmodium spp. and phylum Apicomplexa directly target RBCs, and surface molecules within the RBC membrane are critical for pathogen interactions. Proteomics of RBC membrane 'ghost' fractions has therefore been of considerable interest, but protocols described to date are either suboptimal or too extensive to be applicable to a larger set of clinical cohorts...
2018: Clinical Proteomics
https://www.readbyqxmd.com/read/29560059/emergency-department-ed-ed-observation-day-hospital-and-hospital-admissions-for-adults-with-sickle-cell-disease
#13
David M Cline, Susan Silva, Caroline E Freiermuth, Victoria Thornton, Paula Tanabe
Introduction: Use of alternative venues to manage uncomplicated vaso-occlusive crisis (VOC), such as a day hospital (DH) or ED observation unit, for patients with sickle cell anemia, may significantly reduce admission rates, which may subsequently reduce 30-day readmission rates. Methods: In the context of a two-institution quality improvement project to implement best practices for management of patients with sickle cell disease (SCD) VOC, we prospectively compared acute care encounters for utilization of 1) emergency department (ED); 2) ED observation unit; 3) DH, and 4) hospital admission, of two different patient cohorts with SCD presenting to our two study sites...
March 2018: Western Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29555644/biological-impact-of-%C3%AE-genes-%C3%AE-haplotypes-and-g6pd-activity-in-sickle-cell-anemia-at-baseline-and-with-hydroxyurea
#14
Françoise Bernaudin, Cécile Arnaud, Annie Kamdem, Isabelle Hau, Françoise Lelong, Ralph Epaud, Corinne Pondarré, Serge Pissard
Sickle cell anemia (SCA), albeit monogenic, has heterogeneous phenotypic expression, mainly related to the level of hemoglobin F (HbF). No large cohort studies have ever compared biological parameters in patients with major β-globin haplotypes; ie, Senegal (SEN), Benin (BEN), and Bantu/Central African Republic (CAR). The aim of this study was to evaluate the biological impact of α genes, β haplotypes, and glucose-6-phosphate dehydrogenase (G6PD) activity at baseline and with hydroxyurea (HU). Homozygous HbS patients from the Créteil pediatric cohort with available α-gene and β-haplotype data were included (n = 580; 301 females and 279 males) in this retrospective study...
March 27, 2018: Blood Advances
https://www.readbyqxmd.com/read/29552532/the-use-of-dried-blood-spots-a-potential-tool-for-the-introduction-of-a-neonatal-screening-program-for-sickle-cell-anemia-in-zambia
#15
Nanjela Chindima, Panji Nkhoma, Musalula Sinkala, Mildred Zulu, Doris Kafita, Marah Simakando, Florence Mwaba, Hamakwa Mantina, Mubanga Mutale
Context: Sickle cell disease is a group of hemoglobin (Hb) disorders resulting from the inheritance of the sickle β-globin gene. It is the most common pathological Hb mutation worldwide with 75% being born in Sub-Saharan Africa. Aims: This study aims to determine if dried blood spots (DBSs) can be used for diagnosis of sickle cell in newborns. In Zambia, there is no neonatal screening program for sickle cell anemia (SCA), yet it has been proved that early diagnosis by newborn screening (NBS) using DBSs and access to comprehensive care results in survival to adulthood of over 96% of sickle cell patients...
January 2018: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/29545349/proteomic-analysis-of-plasma-from-children-with-sickle-cell-anemia-and-silent-cerebral-infarction
#16
Sanjay Tewari, George Renney, John Brewin, Kate Gardner, Fenella Kirkham, Baba Inusa, James E Barrett, Stephan Menzel, Swee Lay Thein, Malcolm Ward, David C Rees
Silent cerebral infarction is the commonest neurological abnormality in children with sickle cell anemia, affecting 30-40% 14 year olds. There are no known biomarkers to identify children with silent cerebral infarcts and the pathological basis is also unknown. We used an unbiased proteomic discovery approach to identify plasma proteins differing in concentration between children with and without silent cerebral infarcts. Clinical parameters and plasma samples were analysed from 51 children (mean age 11.8 years, range 6-18) with sickle cell anemia (HbSS)...
March 15, 2018: Haematologica
https://www.readbyqxmd.com/read/29544494/phenotype-specific-recombinant-haptoglobin-polymers-co-expressed-with-c1r-like-protein-as-optimized-hemoglobin-binding-therapeutics
#17
Christian A Schaer, Catherine Owczarek, Jeremy W Deuel, Stefan Schauer, Jin Hyen Baek, Ayla Yalamanoglu, Matthew P Hardy, Pierre D Scotney, Peter M Schmidt, Matthias Pelzing, Peter Soupourmas, Paul W Buehler, Dominik J Schaer
BACKGROUND: Preclinical studies have evaluated haptoglobin (Hp) polymers from pooled human plasma as a therapeutic protein to attenuate toxic effects of cell-free hemoglobin (Hb). Proof of concept studies have demonstrated efficacy of Hp in hemolysis associated with transfusion and sickle cell anemia. However, phenotype-specific Hp products might be desirable to exploit phenotype specific activities of Hp 1-1 versus Hp 2-2, offering opportunities for recombinant therapeutics. Prohaptoglobin (proHp) is the primary translation product of the Hp mRNA...
March 15, 2018: BMC Biotechnology
https://www.readbyqxmd.com/read/29531649/association-of-the-sod2-polymorphism-val16ala-and-sod-activity-with-vaso-occlusive-crisis-and-acute-splenic-sequestration-in-children-with-sickle-cell-anemia
#18
Isabela Cristina Cordeiro Farias, Taciana Furtado Mendonça-Belmont, Andreia Soares da Silva, Kleyton Palmeira do Ó, Felipe Ferreira, Fernanda Silva Medeiros, Luydson Richardson da Silva Vasconcelos, Marcos André Cavalcanti Bezerra, Aderson da Silva Araújo, Patricia Muniz Mendes Freire de Moura, Betânia Lucena Domingues Hatzlhofer, Ana Claudia Mendonça Dos Anjos, Maria do Socorro de Mendonça Cavalcanti
The SOD2 polymorphism Val16Ala T→C influences the antioxidative response. This study investigated the association of the SOD2 polymorphism and superoxide dismutase (SOD) activity with the vaso-occlusive crisis (VOC) and acute splenic sequestration (ASS) in children with sickle cell anemia (SCA). One hundred ninety-five children with SCA aged 1-9 years old were analyzed. The TC and CC genotypes were associated with lower SOD activity compared with the TT genotype (p=0.0321; p=0.0253, respectively). Furthermore, TC and CC were more frequent in patients with VOC or ASS (p=0...
2018: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29526279/whole-genome-sequence-based-haplotypes-reveal-single-origin-of-the-sickle-allele-during-the-holocene-wet-phase
#19
Daniel Shriner, Charles N Rotimi
Five classical designations of sickle haplotypes are made on the basis of the presence or absence of restriction sites and are named after the ethno-linguistic groups or geographic regions from which the individuals with sickle cell anemia originated. Each haplotype is thought to represent an independent occurrence of the sickle mutation rs334 (c.20A>T [p.Glu7Val] in HBB). We investigated the origins of the sickle mutation by using whole-genome-sequence data. We identified 156 carriers from the 1000 Genomes Project, the African Genome Variation Project, and Qatar...
March 7, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29520844/children-with-sickle-cell-anemia-with-normal-tcd-and-without-silent-infarcts-have-a-low-incidence-of-new-strokes
#20
Lori C Jordan, Dionna O Roberts Williams, Mark J Rodeghier, Brittany Covert, Maria R Ponisio, James F Casella, Robert C McKinstry, Michael J Noetzel, Fenella J Kirkham, Emily R Meier, Beng Fuh, Melissa McNaull, Sharada Sarnaik, Suvankar Majumdar, Timothy L McCavit, Michael R DeBaun
In a prospective cohort study, we tested the hypothesis that children with sickle cell anemia (SCA) with normal transcranial Doppler ultrasound (TCD) velocities and without silent cerebral infarcts (SCIs) would have a lower incidence rate of new neurological events (strokes, seizures or transient ischemic attacks) compared to children with normal TCD measurements and SCIs, not receiving regular blood transfusions. Non-randomized participants from the Silent Cerebral Infarct Transfusion (SIT) Trial who had screening magnetic resonance imaging (MRI) of the brain and normal TCD measurements were included...
March 9, 2018: American Journal of Hematology
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