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https://www.readbyqxmd.com/read/28723338/sickle-cell-disease
#1
Frédéric B Piel, Martin H Steinberg, David C Rees
No abstract text is available yet for this article.
July 20, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28723337/sickle-cell-disease
#2
François Lionnet, Jean-Philippe Haymann, Claude Bachmeyer
No abstract text is available yet for this article.
July 20, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28723336/sickle-cell-disease
#3
Michele Bibas
No abstract text is available yet for this article.
July 20, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28723335/sickle-cell-disease
#4
(no author information available yet)
No abstract text is available yet for this article.
July 20, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28721800/sickle-cell-disease-deserves-a-place-in-nurse-education
#5
Winifred Oluchukwu Eboh
Sickle cell disease (SCD) is the most common serious genetic condition in England. According to the National Institute for Health and Care Excellence (NICE), there are an estimated 12,500 to 15,000 people with sickle cell disease in the UK.
July 19, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28717861/patient-perspectives-on-gene-transfer-therapy-for-sickle-cell-disease
#6
Heather Strong, Monica J Mitchell, Alana Goldstein-Leever, Lisa Shook, Punam Malik, Lori E Crosby
INTRODUCTION: Sickle cell disease (SCD) is a chronic genetic disease with high morbidity and early mortality; it affects nearly 100,000 individuals in the USA. Bone marrow transplantation, the only curative treatment, is available to less than 20% of patients because of a number of access barriers. Gene transfer therapy (GTT) has been shown to be curative in animal models and is approved for use in humans for early-phase studies at a few centers. GTT would offer a more accessible treatment option available to all patients...
July 17, 2017: Advances in Therapy
https://www.readbyqxmd.com/read/28717280/priapism-with-penile-gangrene-an-unusual-presentation-of-multiple-myeloma
#7
Vikas Kumar Panwar, Ravimohan S Mavuduru, Sudheer Kumar Devana, Kim Vaiphei, Girdhar Singh Bora
Penile gangrene is very rare sequel of ischemic priapism. Previous published reports have shown its occurrence in patients with sickle cell disease, urethral carcinoma, bladder carcinoma, thrombotic thrombocytopenic purpura, idiopathic, traumatic, etc. Ischemic priapism with penile gangrene as an initial presentation of multiple myeloma has not been reported. We present a 44-year-old patient of multiple myeloma presenting with ischemic priapism and penile gangrene requiring partial penectomy.
July 2017: Indian Journal of Urology: IJU: Journal of the Urological Society of India
https://www.readbyqxmd.com/read/28716439/renal-cell-carcinoma-unclassified-with-medullary-phenotype-poorly-differentiated-adenocarcinomas-overlapping-with-renal-medullary-carcinoma
#8
Deepika Sirohi, Steven C Smith, Chisato Ohe, Piergiuseppe Colombo, Mukul Divatia, Ema Dragoescu, Priya Rao, Michelle S Hirsch, Ying-Bei Chen, Rohit Mehra, Mahul B Amin
Renal medullary carcinoma (RMC) is a highly aggressive renal cell carcinoma, arising in the collecting system, and requiring careful correlation with status of sickle cell trait. A panel of international experts has recently proposed provisional diagnostic terminology, renal cell carcinoma, unclassified, with medullary phenotype (RCCU-MP), based on encountering an extraordinarily rare tumor with RMC morphology and immunophenotype in an individual proven not to have a hemoglobinopathy. Herein, we extend this observation to a cohort of five such tumors, morphologically similar to RMC, lacking SMARCB1 expression by immunohistochemistry, but each without evidence of a hemoglobinopathy...
July 14, 2017: Human Pathology
https://www.readbyqxmd.com/read/28711132/additional-conditions-amenable-to-observation-care
#9
REVIEW
Matthew A Wheatley
ED observation units (EDOUs) are designed for patients who require diagnostics or therapeutics beyond the initial ED visit to determine the need for hospital admission. Best evidence is that this care be delivered via ordersets or protocols. Occasionally, patients present with conditions that are amenable to EDOU care but fall outside the commonly used protocols. This article details a few of these conditions: abnormal uterine bleeding, allergic reaction, alcohol intoxication, acetaminophen overdose and sickle cell vaso-occlusive crisis...
August 2017: Emergency Medicine Clinics of North America
https://www.readbyqxmd.com/read/28707371/individuals-with-sickle-cell-disease-have-a-significantly-greater-vasoconstriction-response-to-thermal-pain-than-controls-and-have-significant-vasoconstriction-in-response-to-anticipation-of-pain
#10
Maha Khaleel, Mammen Puliyel, Payal Shah, John Sunwoo, Roberta M Kato, Patjanaporn Chalacheva, Wanwara Thuptimdang, Jon Detterich, John C Wood, Jennie Tsao, Lonnie Zeltzer, Richard Sposto, Michael C K Khoo, Thomas D Coates
The painful vaso-occlusive crises (VOC) that characterize sickle cell disease (SCD) progress over hours from the asymptomatic steady-state. SCD patients report that VOC can be triggered by stress, cold exposure and pain itself. We anticipated that pain could cause neural-mediated vasoconstriction, decreasing regional blood flow and promoting entrapment of sickle cells in the microvasculature. Therefore, we measured microvascular blood flow in the fingers of both hands using plethysmography and laser-Doppler flowmetry while applying a series of painful thermal stimuli on the right forearm in 23 SCD patients and 25 controls...
July 13, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28706555/advances-in-iron-chelation-therapy-transitioning-to-a-new-oral-formulation
#11
Nirmish R Shah
Iron overload is a concern for patients who require repeated red-blood-cell transfusions due to conditions such as sickle cell disease, thalassemia, or myelodysplastic syndromes. The recommended treatment for removing excess iron in these patients is iron chelation therapy. Currently available iron chelators include deferoxamine, which is administered by injection, and deferasirox and deferiprone, both of which are administered orally. Adherence to iron chelator therapy is an important consideration and may be affected by side effects...
2017: Drugs in Context
https://www.readbyqxmd.com/read/28705443/-impact-of-sickle-cell-trait-on-arterial-stiffness-in-african-subjects
#12
V Ouédraogo, R Soleti, I Signolet, M Diaw, M Hallab, A Samb, R Andriantsitohaina, A Ba, G Lefthériotis
Sickle cell trait (SCT) is the benign condition of sickle cell disease. Often asymptomatic, the carriers of the sickle cell trait have hemorheological disturbances with increased oxidative stress compared to healthy subjects. These disturbances can lead to structural and functional changes in large vessels. The aim of the study was to measure arterial stiffness, an independent marker of subclinical atherosclerosis, SCT carriers compared to sickle cell anemia (SCA) subjects. Nine SCT carriers aged 32±9 years (7 men) were compared to 14 SCA subjects aged 29±9 years (2 men) and 22 control subjects aged 34±9 years (11 men) recruited by the National blood transfusion center (CNTS) in Dakar (Senegal)...
February 2017: J Med Vasc
https://www.readbyqxmd.com/read/28703061/appeal-launched-as-rate-of-sickle-cell-disease-rises
#13
(no author information available yet)
More people from the African-Caribbean community are needed to donate blood due to growing rates of sickle cell disease.
July 13, 2017: Emergency Nurse: the Journal of the RCN Accident and Emergency Nursing Association
https://www.readbyqxmd.com/read/28700924/mesoscopic-adaptive-resolution-scheme-toward-understanding-of-interactions-between-sickle-cell-fibers
#14
Lu Lu, He Li, Xin Bian, Xuejin Li, George Em Karniadakis
Understanding of intracellular polymerization of sickle hemoglobin (HbS) and subsequent interaction with the membrane of a red blood cell (RBC) is important to predict the altered morphologies and mechanical properties of sickle RBCs in sickle cell anemia. However, modeling the integrated processes of HbS nucleation, polymerization, HbS fiber interaction, and subsequent distortion of RBCs is challenging as they occur at multispatial scales, ranging from nanometers to micrometers. To make progress toward simulating the integrated processes, we propose a hybrid HbS fiber model, which couples fine-grained and coarse-grained HbS fiber models through a mesoscopic adaptive resolution scheme (MARS)...
July 11, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28699692/granulocyte-colony-stimulating-factor-administration-among-hemoglobin-s-trait-donors-a-single-center-experience-from-the-eastern-mediterranean-region
#15
Cigdem Gereklioglu, Suheyl Asma, Aslı Korur, Songul Tepebası, Pelin Aytan, Mahmut Yeral, Ilknur Kozanoglu, Can Boga, Hakan Ozdogu
BACKGROUND AND OBJECTIVE: Assessment of Hemoglobin S trait donors has gained importance together with the increased allogeneic peripheral stem cell transplant activity for sickle cell disease in the regions where the disease is prevalent. Outcomes of Granulocyte-Colony Stimulating Factor (G-CSF) administration are obscure for hemoglobin S trait donors. This study aims at investigating the incidence of hemoglobin S carrier status and outcomes of G-CSF administration among donors who live in Eastern Mediterranean region...
July 12, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/28699687/the-super-sickling-haemoglobin-hbs-oman-a-study-of-red-cell-sickling-k-permeability-and-associations-with-disease-severity-in-patients-heterozygous-for-hba-and-hbs-oman-hba-s-oman-genotype
#16
Halima W M Al Balushi, Yasser Wali, Maha Al Awadi, Taimoora Al-Subhi, David C Rees, John N Brewin, Anke Hannemann, John S Gibson
Studying different sickle cell genotypes may throw light on the pathogenesis of sickle cell disease (SCD). Here, the clinical profile, red cell sickling and K(+) permeability in 29 SCD patients (15 patients with severe disease and 14 with a milder form) of HbA/S-Oman genotype were analysed. The super sickling nature of this Hb variant was confirmed. The red cell membrane permeability to K(+) was markedly abnormal with elevated activities of Psickle , Gardos channel and KCl cotransporter (KCC). Results were consistent with Ca(2+) entry and Mg(2+) loss via Psickle stimulating Gardos channel and KCC activities...
July 12, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28699644/roles-of-apol1%C3%A2-g1-and-g2-variants-in-sickle-cell-disease-patients-kidney-is-the-main-target
#17
Raphaël Kormann, Anne-Sophie Jannot, Céline Narjoz, Jean-Antoine Ribeil, Sandra Manceau, Marianne Delville, Valentin Joste, Dominique Prié, Jacques Pouchot, Eric Thervet, Marie Courbebaisse, Jean-Benoît Arlet
In African-American patients with sickle cell disease (SCD), APOL1 G1 and G2 variants are associated with increased risk of sickle cell nephropathy (SCN). To determine the role of APOL1 variants in SCD patients living in Europe, we genotyped 152 SCD patients [aged 30·4 (24·3-36·4) years], mainly of Sub-Saharan African ancestry, for APOL1 G1 and G2 and for variants of four genes with kidney tropism (GSTM1, GSTT1, GSTP1, and HMOX1). Homozygous or double-heterozygous APOL G1 and G2 genotypes were strongly associated with end stage renal disease (P = 0·003) and worse Kidney Disease: Improving Global Outcomes stages (P = 0·001)...
July 12, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28699284/a-monocyte-tnf-endothelial-activation-axis-in-sickle-transgenic-mice-therapeutic-benefit-from-tnf-blockade
#18
Anna Solovey, Arif Somani, John D Belcher, Liming Milbauer, Lucile Vincent, Rafal Pawlinski, Karl A Nath, Robert J Kelm, Nigel Mackman, M Gerard O'Sullivan, Kalpna Gupta, Gregory M Vercellotti, Robert P Hebbel
Elaboration of tumor necrosis factor (TNF) is a very early event in development of ischemia/reperfusion injury pathophysiology. Therefore, TNF may be a prominent mediator of endothelial cell and vascular wall dysfunction in sickle cell anemia, a hypothesis we addressed using NY1DD, S+S(Antilles) , and SS-BERK sickle transgenic mice. Transfusion experiments revealed participation of abnormally activated blood monocytes exerting an endothelial activating effect, dependent upon Egr-1 in both vessel wall and blood cells, and upon NFκB(p50) in a blood cell only...
July 11, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28699283/prospective-evaluation-of-chronic-organ-damage-in-adult-sickle-cell-patients-a-seven-year-follow-up-study
#19
Charlotte F J van Tuijn, Marein Schimmel, Eduard J van Beers, Erfan Nur, Bart J Biemond
Organ damage in sickle cell disease (SCD) is a crucial determinant for disease severity and prognosis. In a previous study, we analyzed the prevalence of SCD-related organ damage and complications in adult sickle cell patients. We now describe a seven-year follow-up of this cohort. All patients from the primary analysis in 2006 (n=104), were included for follow-up. Patients were screened for SCD-related organ damage and complications (microalbuminuria, renal failure, elevated tricuspid regurgitation flow velocity (TRV) (≥2...
July 11, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28698782/prevalence-and-etiology-of-bacteremia-in-febrile-children-with-sickle-cell-disease-at-a-nigeria-tertiary-hospital
#20
Biobele Brown, Hannah Dada-Adegbola, Catherine Trippe, Olufunmilayo Olopade
BACKGROUND & OBJECTIVES: As a result of immune defects in Sickle cell disease (SCD), affected individuals are prone to infection from encapsulated bacterial pathogens like Streptococcus Pneumoniae. Studies on the etiological agents of bacteremia in children with SCD in Nigeria are few and have revealed a spectrum of organisms that is different from those recorded in other parts of the world. AIM AND OBJECTIVES: The objectives of this study were to determine the prevalence of bacteremia, etiological agents and antibiotic susceptibility pattern in febrile children with SCD attending the University College Hospital (UCH), Ibadan, Nigeria...
2017: Mediterranean Journal of Hematology and Infectious Diseases
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