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Sickle cell disease

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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/29048948/the-spectrum-of-sickle-hemoglobin-related-nephropathy-from-sickle-cell-disease-to-sickle-trait
#2
Rakhi P Naik, Vimal K Derebail
Renal dysfunction is among the most common complication of sickle cell disease (SCD), from hyposthenuria in children to progression to overt chronic kidney disease (CKD) in young adults. Emerging evidence now suggests that sickle hemoglobin-related nephropathy extends to individuals with sickle cell trait (SCT). Areas covered: This review will highlight the pathophysiology, epidemiology, and management recommendations for sickle nephropathy in both SCD and SCT. In addition, it will focus on the major demographic and genetic modifiers of renal disease in sickling hemoglobinopathies...
October 19, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/29048590/family-functioning-medical-self-management-and-health-outcomes-among-school-aged-children-with-sickle-cell-disease-a-mediation-model
#3
Alexandra M Psihogios, Lauren C Daniel, Reem Tarazi, Kim Smith-Whitley, Chavis A Patterson, Lamia P Barakat
Background: Informed by the Pediatric Self-Management Model, the present study tested relationships between parent and family functioning, sickle cell disease (SCD) self-management, and health outcomes for children with SCD. Method: 83 children with SCD and a parent completed baseline data as part of a larger investigation of a family-based, problem-solving intervention for children with SCD (M age = 8.47). Youth and parents completed a measure of child health-related quality of life (HRQOL), and parents completed measures of family efficacy, parenting stress, and SCD self-management...
September 26, 2017: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/29048550/altered-neurophysiological-processing-of-auditory-attention-in-preschool-children-with-sickle-cell-disease
#4
Michelle Downes, Fenella J Kirkham, Paul T Telfer, Michelle de Haan
Objective: Sickle cell disease (SCD) is a genetic red blood cell disorder that often leads to stroke and executive dysfunction in school-age children and adults. This study aimed to characterize the development of the neural correlates of selective attention, an early component of executive function, in preschool children with SCD. Methods: Auditory event-related potentials (ERPs) were recorded while children attended to a story stream in one ear and ignored a second story in the other ear interchangeably...
September 18, 2017: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/29047145/a-randomized-controlled-trial-comparing-two-vaso-occlusive-episode-voe-protocols-in-sickle-cell-disease-scd
#5
Paula Tanabe, Susan Silva, Hayden B Bosworth, Regina Crawford, Judith A Paice, Lynne D Richardson, Christopher N Miller, Jeffrey Glassberg
No abstract text is available yet for this article.
October 19, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29046485/dimethyl-fumarate-increases-fetal-hemoglobin-provides-heme-detoxification-and-corrects-anemia-in-sickle-cell-disease
#6
Sriram Krishnamoorthy, Betty Pace, Dipti Gupta, Sarah Sturtevant, Biaoru Li, Levi Makala, Julia Brittain, Nancy Moore, Benjamin F Vieira, Timothy Thullen, Ivan Stone, Huo Li, William E Hobbs, David R Light
Sickle cell disease (SCD) results from a point mutation in the β-globin gene forming hemoglobin S (HbS), which polymerizes in deoxygenated erythrocytes, triggering recurrent painful vaso-occlusive crises and chronic hemolytic anemia. Reactivation of fetal Hb (HbF) expression ameliorates these symptoms of SCD. Nuclear factor (erythroid derived-2)-like 2 (Nrf2) is a transcription factor that triggers cytoprotective and antioxidant pathways to limit oxidative damage and inflammation and increases HbF synthesis in CD34+ stem cell-derived erythroid progenitors...
October 19, 2017: JCI Insight
https://www.readbyqxmd.com/read/29045487/the-psychosocial-impact-of-leg-ulcers-in-patients-with-sickle-cell-disease-i-don-t-want-them-to-know-my-little-secret
#7
Nkeiruka I Umeh, Brittany Ajegba, Ashley J Buscetta, Khadijah E Abdallah, Caterina P Minniti, Vence L Bonham
BACKGROUND: Sickle cell disease (SCD) impacts millions of individuals worldwide and more than 100,000 people in the United States. Leg ulcers are the most common cutaneous manifestation of SCD. The health status of individuals living with chronic leg ulcers is not only influenced by clinical manifestations such as pain duration and intensity, but also by psychosocial factors. Garnering insights into the psychosocial impact can provide a more holistic view of their influence on quality of life...
2017: PloS One
https://www.readbyqxmd.com/read/29043830/red-blood-cell-phenotype-prevalence-in-blood-donors-who-self-identify-as-hispanic
#8
Chelsea A Sheppard, Nicole L Bolen, Beth Eades, Gorka Ochoa-Garay, Mark H Yazer
Molecular genotyping platforms provide a quick, high-throughput method for identifying red blood cell units for patients on extended phenotype-matching protocols, such as those with sickle cell disease or thalassemia. Most of the antigen prevalence data reported are for non-Hispanic populations. Therefore, this study sought to determine the phenotype prevalence in a single blood center's Hispanic population and to compare those results with previously reported rates in non-Hispanic donor populations. We performed a retrospective review of all serologic and molecular typing from donors who self-reported as Hispanic...
September 2017: Immunohematology
https://www.readbyqxmd.com/read/29039727/identification-of-aptamers-that-bind-to-sickle-hemoglobin-and-inhibit-its-polymerization
#9
Shirley H Purvis, Jeffrey R Keefer, Yolanda M Fortenberry, Emily A Barron-Casella, James F Casella
The pathophysiology of sickle cell disease (SCD) is dependent on the polymerization of deoxygenated sickle hemoglobin (HbS), leading to erythrocyte deformation (sickling) and vaso-occlusion within the microvasculature. Following deoxygenation, there is a delay time before polymerization is initiated, during which nucleation of HbS monomers occurs. An agent with the ability to extend this delay time or slow polymerization would therefore hold a therapeutic, possibly curative, potential. We used the Systematic Evolution of Ligands by Exponential Enrichment (SELEX) method to screen for HbS-binding RNA aptamers modified with nuclease-resistant 2'-fluoropyrimidines...
October 17, 2017: Nucleic Acid Therapeutics
https://www.readbyqxmd.com/read/29039292/an-innovative-short-stay-health-care-model-for-treatment-of-uncomplicated-vaso-occlusive-crisis-in-adult-sickle-cell-disease-patients-in-canada-to-reduce-emergency-department-utilization
#10
Andrew Binding, Richard Ward, Chai Phua, Veronique Naessens, Tara O'Brien, Sacha Bhatia, Hayley Baranek, Husayn Marani, Geetha Mukerji
OBJECTIVES: Patients with sickle cell disease (SCD) with vaso-occlusive crises (VOC) often visit the emergency department (ED) for management of painful episodes. The primary objective of this pilot study was to evaluate the acceptability of a short-stay model for treatment of VOC in SCD outside of the ED in Toronto, Canada. Secondary objectives were to assess patient satisfaction of this model, barriers to its use and comparison of clinical outcomes to a historical control. METHODS: Adult SCD patients with symptoms of an uncomplicated VOC between October 2014 to July 2016 were managed according to best practice recommendations in a short-stay unit as an alternative to the local emergency room...
October 17, 2017: CJEM
https://www.readbyqxmd.com/read/29038918/mechanisms-and-causality-in-molecular-diseases
#11
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/29038713/coexistence-of-lupus-nephritis-and-sickle-cell-trait-an-electron-microscopic-assessment-of-renal-glomerular-damage-case-report-of-a-rare-association
#12
Yahya Elficki, Atif Rawas, Asseil Ali Bossei, Areej Bdawod, Reem Zabani, Bayan Shams
Because of similarities of the musculoskeletal, central nervous system, and renal manifestations in both diseases, diagnosing systemic lupus erythematosus (SLE) in sickle cell disease (SCD) patients can be difficult to establish. Although Sickle Cell Trait (SCT) is still considered a benign form of SCD, its impact on kidney injury and other renal manifestations is well recognized in the literature. In this case report, we look at the challenges that develop when diagnosing patients with a concurrence of both diseases and the importance of early recognition and treatment of lupus nephritis in SCT patients...
September 2017: Electronic Physician
https://www.readbyqxmd.com/read/29036551/comparative-study-of-the-growth-and-nutritional-status-of-brazilian-and-nigerian-school-aged-children-with-sickle-cell-disease
#13
Samuel A Adegoke, Maria S Figueiredo, Adekunle D Adekile, Josefina A P Braga
Background: Comparative studies of patients in different sociogeographic/ecological zones may unravel potential environmental and nutritional factors influencing disease phenotype. In sickle cell disease (SCD), differential access to comprehensive care may influence their growth and nutritional status. Methods: From June 2015 to February 2016, steady-state nutritional parameters of 109 Brazilian and 95 Nigerian children with SCD attending routine clinic visits at Universidade Federal de São Paulo, Brazil and Obafemi Awolowo University Teaching Hospital, Ile-Ife (Ilesa unit), respectively, were compared...
September 28, 2017: International Health
https://www.readbyqxmd.com/read/29036363/predictive-ability-of-intermittent-daily-sickle-cell-pain-assessment-the-pisces-project
#14
Wally R Smith, Donna K McClish, James Levenson, Imoigele Aisiku, Bassam Dahman, Viktor E Bovbjerg, Susan Roseff, John Roberts
Background: Pain diary assessment in sickle cell disease (SCD) may be expensive and impose a high respondent burden. Objective: To report whether intermittent assessment could substitute for continuous daily pain assessment in SCD. Design: Prospective cohort study. Setting: Academic and community practices in Virginia. Patients: A total of 125 SCD patients age 16 years or older in the Pain in Sickle Cell Epidemiology Study...
September 26, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/29033725/assessment-of-patient-controlled-analgesia-versus-intermittent-opioid-therapy-to-manage-sickle-cell-disease-vaso-occlusive-crisis-in-adult-patients
#15
Alaa Al-Anazi, Lowloa Al-Swaidan, Maha Al-Ammari, Tariq Al-Debasi, Abdulmalik M Alkatheri, Shmeylan Al-Harbi, Aiman A Obaidat, Abdulkareem M Al-Bekairy
BACKGROUND: Vaso-occlusive crisis (VOC) is one of the acute complications of sickle-cell disease (SCD). Treatment mainly relies on hydration and pain control by analgesics. The specific aim of this study was to assess potential health outcomes within the first 72 h of admission between intermittent and patient-controlled analgesia (PCA) by opioids among VOC patients. METHODS: A retrospective chart review study was conducted to determine SCD patients with VOC. Using the hospital electronic system, the following data were collected: patient's age, gender, blood pressure, heart rate, respiratory rate, oxygen saturation, and pain score on admission and daily for 3 days as well as the cumulative opioid analgesic dose for 72 h which is reported as morphine equivalent...
October 2017: Saudi Journal of Anaesthesia
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
#16
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/29027199/characterization-of-a-mouse-model-of-sickle-cell-trait-parallels-to-human-trait-and-a-novel-finding-of-cutaneous-sensitization
#17
Katherine J Zappia, Yihe Guo, Dawn Retherford, Nancy J Wandersee, Cheryl L Stucky, Cheryl A Hillery
Sickle cell trait (SCT) has classically been categorized as a benign condition except in rare cases or upon exposure to severe physical conditions. However, several lines of evidence indicate that individuals with SCT are not always asymptomatic, and additional physiological changes and risks may remain unexplored. Here, we utilized mice harbouring one copy of normal human β globin and one copy of sickle human β globin as a model of SCT to assess haematological, histopathological and somatosensory outcomes...
October 12, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/29026475/human-parvovirus-b19-in-children-with-sickle-cell-disease-poking-the-spleen
#18
Ashraf Abdellah Saad, Ismail Beshlawi, Abdul Hakim Al-Rawas, Mathew Zachariah, Hanan Fawzy Nazir, Yasser Wali
Parvovirus is a known culprit of transient red cell aplasia (TRCA) in children with sickle cell disease (SCD). Few reports have previously described the association between the virus and acute splenic sequestration crisis (ASSC) in the same patient. Here, we are shedding light on such a potentially serious combination by reporting two cases of siblings with SCD complicated with concurrent ASSC and TRCA and presenting a review of the relevant literature.
September 2017: Oman Medical Journal
https://www.readbyqxmd.com/read/29026401/the-sensitivity-of-na-k-atpase-as-an-indicator-of-blood-diseases
#19
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/29026400/hydroxyurea-therapy-in-adult-nigerian-sickle-cell-disease-a-monocentric-survey-on-pattern-of-use-clinical-effects-and-patient-s-compliance
#20
Ademola Samson Adewoyin, Omokiniovo Sunday Oghuvwu, Omolade Augustina Awodu
BACKGROUND: The clinical prospects of hydroxyurea therapy in the management of sickle cell disease (SCD) require evaluation in the Nigerian setting to develop indigenous guidelines. This survey examines the pattern of hydroxyurea therapy, its clinico-haematologic benefits and safety profile in Nigerian SCD subjects. METHODS: A cross sectional pilot survey was carried out among 60 adult SCD subjects over 3 months. Data on clinical phenotypes, relevant haematological parameters and details of hydroxyurea therapy were obtained using a structured questionnaire through an interview process and case file review...
March 2017: African Health Sciences
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