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https://www.readbyqxmd.com/read/29145710/testosterone-replacement-in-transgenic-sickle-cell-mice-controls-priapic-activity-and-upregulates-pde5-expression-and-enos-activity-in-the-penis
#1
B Musicki, S Karakus, W Akakpo, F H Silva, J Liu, H Chen, B R Zirkin, A L Burnett
Sickle cell disease (SCD)-associated priapism is characterized by decreased nitric oxide (NO) signaling and downregulated phosphodiesterase (PDE)5 protein expression and activity in the penis. Priapism is also associated with testosterone deficiency, but molecular mechanisms underlying testosterone effects in the penis in SCD are not known. Given the critical role of androgens in erection physiology and NO synthase (NOS)/PDE5 expression, we hypothesized that testosterone replacement to eugonadal testosterone levels reduces priapism by reversing impaired endothelial (e)NOS activity and molecular abnormalities involving PDE5...
November 16, 2017: Andrology
https://www.readbyqxmd.com/read/29143315/fetal-haemoglobin-induction-in-sickle-cell-disease
#2
REVIEW
Alireza Paikari, Vivien A Sheehan
Fetal haemoglobin (HbF, α2γ2) induction has long been an area of investigation, as it is known to ameliorate the clinical complications of sickle cell disease (SCD). Progress in identifying novel HbF-inducing strategies has been stymied by limited understanding of gamma (γ)-globin regulation. Genome-wide association studies (GWAS) have identified variants in BCL11A and HBS1L-MYB that are associated with HbF levels. Functional studies have established the roles of BCL11A, MYB, and KLF1 in γ-globin regulation, but this information has not yielded new pharmacological agents...
November 16, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/29142953/absence-of-hiv-associated-nephropathy-among-antiretroviral-naive-adults-with-persistent-albuminuria-in-western-kenya
#3
M K Koech, M O G Owiti, W D Owino-Ong'or, A K Koskei, M J Karoney, V D D'Agati, C M Wyatt
Introduction: HIV-associated nephropathy (HIVAN) has been strongly linked to African ancestry. However, studies have demonstrated wide variability in the prevalence of HIVAN in different sub-Saharan African populations. Accurate assessment of the disease burden is important because antiretroviral therapy (ART) is increasingly available and may prevent progression to end-stage renal disease. Methods: We prospectively screened ART-naïve, afebrile, nonhypertensive, and nondiabetic adults attending a large HIV care program in Western Kenya for the presence of albuminuria (dipstick albumin ≥ trace or urine albumin to creatinine ratio [UACR] ≥ 30 mg/g)...
March 2017: KI Reports
https://www.readbyqxmd.com/read/29138844/the-%C3%A2-%C3%AE-3-7-deletion-in-%C3%AE-%C3%A2-globin-genes-increases-the-concentration-of-fetal-hemoglobin-and-hemoglobin-a2-in-a-saudi-arabian-population
#4
J Francis Borgio, Sayed Abdulazeez, Noor B Almandil, Zaki A Naserullah, Sana Al-Jarrash, Ahmed M Al-Suliman, Huda Ismail Elfakharay, Fuad S Qaw, Fatimah I Alabdrabalnabi, Mohammed A Alkhalifah, Mohammed Shakil Akhtar, Hatem Qutub, Amein K Al-Ali
The regions of Al‑Qatif and Al‑Ahssa in the Eastern Province of Saudi Arabia are known for their high prevalence of hemoglobinopathies, including β‑thalassemia and sickle cell anemia. Previously, the α‑gene deletion has been demonstrated as highly prevalent among populations residing in these two regions. The present study was conducted in order to investigate the implications of the α‑globin gene deletion on fetal hemoglobin (HbF) and hemoglobin α2 (HbA2) concentrations in patients with transfusion‑dependent β‑thalassemia...
November 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29135630/news-and-views-on-caffeine-creatine-kinase-levels-and-sickle-cell-trait
#5
E Randy Eichner
No abstract text is available yet for this article.
November 2017: Current Sports Medicine Reports
https://www.readbyqxmd.com/read/29134776/acute-chest-syndrome-among-children-hospitalized-with-vaso-occlusive-crisis-a-nationwide-study-in-the-united-states
#6
Takuto Takahashi, Yusuke Okubo, Atsuhiko Handa
PURPOSE: Acute chest syndrome (ACS) is a common complication among pediatric inpatients with sickle cell disease and vaso-occlusive crisis (VOC). However, little is known about the factors associated with ACS complication. The present study assessed the epidemiological features of children hospitalized with VOC and ascertained factors associated with ACS complication. METHODS: Hospital discharge records of patients with VOC aged <20 years were obtained for the years 2003, 2006, 2009, and 2012 from the Kids' Inpatient Database...
November 14, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29130518/automated-red-blood-cell-exchange-in-preparation-for-filgrastim-mobilization-of-autologous-peripheral-blood-hematopoietic-progenitor-cells-in-a-patient-with-sickle-cell-anemia
#7
Yong Zhao, Jeffrey A Bailey, Jeanne Linden, Patricia St Pierre, Jan Cerny, Michelle Vauthrin, Mindy Greene, Robert Weinstein
Increasing survival of patients with sickle cell anemia (SCA) well into adulthood results in a rising likelihood of developing hematological malignancy. High-dose chemotherapy with autologous hematopoietic progenitor cell (HPC) rescue is standard of care for several hematological malignancies, but the risk of severe or life-threatening vaso-occlusive phenomena during filgrastim mobilization of HPC for collection poses a potential barrier to this approach. We report the use of automated red cell exchange in preparation for filgrastim mobilization in a patient with homozygous SCA...
November 11, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/29127683/gene-and-cell-therapy-for-%C3%AE-thalassemia-and-sickle-cell-disease-with-induced-pluripotent-stem-cells-ipscs-the-next-frontier
#8
Eirini P Papapetrou
In recent years, breakthroughs in human pluripotent stem cell (hPSC) research, namely cellular reprogramming and the emergence of sophisticated genetic engineering technologies, have opened new frontiers for cell and gene therapy. The prospect of using hPSCs, either autologous or histocompatible, as targets of genetic modification and their differentiated progeny as cell products for transplantation, presents a new paradigm of regenerative medicine of potential tremendous value for the treatment of blood disorders, including beta-thalassemia (BT) and sickle cell disease (SCD)...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29127682/genome-editing-for-the-%C3%AE-hemoglobinopathies
#9
Matthew H Porteus
The β-hemoglobinopathies are diverse set of disorders caused by mutations in the β-globin (HBB) gene. Because HBB protein is a critical component (along with α-globin, heme, and iron) of hemoglobin, the molecule essential for oxygen delivery to tissues, mutations in HBB can result in lethal diseases or diseases with multi-organ dysfunction. HBB mutations can be roughly divided into two categories: those that cause a dysfunctional protein (such as sickle cell disease but also including varied diseases caused by high-affinity hemoglobins, low-affinity hemoglobins, and methemoglobinemia) and those that cause the insufficient production of HBB protein (β-thalassemia)...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29127681/reactivation-of-fetal-hemoglobin-for-treating-%C3%AE-thalassemia-and-sickle-cell-disease
#10
Shuaiying Cui, James Douglas Engel
Reactivation of fetal hemoglobin (HbF) in adult hematopoietic cells has the potential for great clinical benefit in patients bearing deleterious mutations in the β-globin gene, such as β-thalassemia and sickle cell disease (SCD), since increasing the production of HbF can compensate for underproduction of β-globin chains (in β-thalassemia) and it can also disrupt sickle hemoglobin polymerization (in SCD). Thus for the past few decades, concerted efforts have been made to identify an effective way to induce the synthesis of HbF in adult erythroid cells for potential therapeutic relief from the effects of these β-globinopathies...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29127680/gene-addition-strategies-for-%C3%AE-thalassemia-and-sickle-cell-anemia
#11
Alisa C Dong, Stefano Rivella
Beta-thalassemia and sickle cell anemia are two of the most common diseases related to the hemoglobin protein. In these diseases, the beta-globin gene is mutated, causing severe anemia and ineffective erythropoiesis. Patients can additionally present with a number of life-threatening co-morbidities, such as stroke or spontaneous fractures. Current treatment involves transfusion and iron chelation; allogeneic bone marrow transplant is the only curative option, but is limited by the availability of matching donors and graft-versus-host disease...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29127679/alternative-donor-unrelated-donor-transplants-for-the-%C3%AE-thalassemia-and-sickle-cell-disease
#12
Courtney D Fitzhugh, Allistair Abraham, Matthew M Hsieh
Considerable progress with respect to donor source has been achieved in allogeneic stem cell transplant for patients with hemoglobin disorders, with matched sibling donors in the 1980s, matched unrelated donors and cord blood sources in the 1990s, and haploidentical donors in the 2000s. Many studies have solidified hematopoietic progenitors from matched sibling marrow, cord blood, or mobilized peripheral blood as the best source-with the lowest graft rejection and graft versus host disease (GvHD), and highest disease-free survival rates...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29127678/allogeneic-matched-related-transplantation-for-%C3%AE-thalassemia-and-sickle-cell-anemia
#13
Françoise Bernaudin, Corinne Pondarré, Claire Galambrun, Isabelle Thuret
Allogeneic hematopoietic stem cell transplantation (HSCT) can cure single gene disorders such as thalassemia and sickle cell anemia (SCA). These non-malignant diseases have in common severe hemolytic anemia and high proliferative bone marrow, requiring frequent transfusions. The risk of rejection is high and graft-vs-host disease is not desirable. Important progress has been made in the management of these diseases, including leukocyte depletion of blood products, and chelation therapy, for both diseases, and erythrocytapheresis and hydroxycarbamide for SCA...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29127677/current-standards-of-care-and-long-term-outcomes-for-thalassemia-and-sickle-cell-disease
#14
Satheesh Chonat, Charles T Quinn
Thalassemia and sickle cell disease (SCD) are disorders of hemoglobin that affect millions of people worldwide. The carrier states for these diseases arose as common, balanced polymorphisms during human history because they afforded protection against severe forms of malaria. These complex, multisystem diseases are reviewed here with a focus on current standards of clinical management and recent research findings. The importance of a comprehensive, multidisciplinary and lifelong system of care is also emphasized...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29127676/genetic-basis-and-genetic-modifiers-of-%C3%AE-thalassemia-and-sickle-cell-disease
#15
Swee Lay Thein
β-thalassemia and sickle cell disease (SCD) are prototypical Mendelian single gene disorders, both caused by mutations affecting the adult β-globin gene. Despite the apparent genetic simplicity, both disorders display a remarkable spectrum of phenotypic severity and share two major genetic modifiers-α-globin genotype and innate ability to produce fetal hemoglobin (HbF, α2γ2).This article provides an overview of the genetic basis for SCD and β-thalassemia, and genetic modifiers identified through phenotype correlation studies...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29127675/clinical-features-of-%C3%AE-thalassemia-and-sickle-cell-disease
#16
Patrick T McGann, Alecia C Nero, Russell E Ware
Sickle cell disease (SCD) and β-thalassemia are among the most common inherited diseases, affecting millions of persons globally. It is estimated that 5-7% of the world's population is a carrier of a significant hemoglobin variant. Without early diagnosis followed by initiation of preventative and therapeutic care, both SCD and β-thalassemia result in significant morbidity and early mortality. Despite great strides in the understanding of the molecular basis and pathophysiology of these conditions, the burden of disease remains high, particularly in limited resource settings...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29127281/structural-and-functional-insight-of-sphingosine-1-phosphate-mediated-pathogenic-metabolic-reprogramming-in-sickle-cell-disease
#17
Kaiqi Sun, Angelo D'Alessandro, Mostafa H Ahmed, Yujin Zhang, Anren Song, Tzu-Ping Ko, Travis Nemkov, Julie A Reisz, Hongyu Wu, Morayo Adebiyi, Zhangzhe Peng, Jing Gong, Hong Liu, Aji Huang, Yuan Edward Wen, Alexander Q Wen, Vladimir Berka, Mikhail V Bogdanov, Osheiza Abdulmalik, Leng Han, Ah-Lim Tsai, Modupe Idowu, Harinder S Juneja, Rodney E Kellems, William Dowhan, Kirk C Hansen, Martin K Safo, Yang Xia
Elevated sphingosine 1-phosphate (S1P) is detrimental in Sickle Cell Disease (SCD), but the mechanistic basis remains obscure. Here, we report that increased erythrocyte S1P binds to deoxygenated sickle Hb (deoxyHbS), facilitates deoxyHbS anchoring to the membrane, induces release of membrane-bound glycolytic enzymes and in turn switches glucose flux towards glycolysis relative to the pentose phosphate pathway (PPP). Suppressed PPP causes compromised glutathione homeostasis and increased oxidative stress, while enhanced glycolysis induces production of 2,3-bisphosphoglycerate (2,3-BPG) and thus increases deoxyHbS polymerization, sickling, hemolysis and disease progression...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29127268/sickle-mice-are-sensitive-to-hypoxia-ischemia-induced-stroke-but-respond-to-tissue-type-plasminogen-activator-treatment
#18
Yu-Yo Sun, Jolly Lee, Henry Huang, Mary B Wagner, Clinton H Joiner, David R Archer, Chia-Yi Kuan
BACKGROUND AND PURPOSE: The effects of lytic stroke therapy in patients with sickle cell anemia are unknown, although a recent study suggested that coexistent sickle cell anemia does not increase the risk of cerebral hemorrhage. This finding calls for systemic analysis of the effects of thrombolytic stroke therapy, first in humanized sickle mice, and then in patients. There is also a need for additional predictive markers of sickle cell anemia-associated vasculopathy. METHODS: We used Doppler ultrasound to examine the carotid artery of Townes sickle mice tested their responses to repetitive mild hypoxia-ischemia- and transient hypoxia-ischemia-induced stroke at 3 or 6 months of age, respectively...
November 10, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/29123434/the-prevalence-of-abnormal-leukocyte-count-and-its-predisposing-factors-in-patients-with-sickle-cell-disease-in-saudi-arabia
#19
Anwar E Ahmed, Yosra Z Ali, Ahmad M Al-Suliman, Jafar M Albagshi, Majid Al Salamah, Mohieldin Elsayid, Wala R Alanazi, Rayan A Ahmed, Donna K McClish, Hamdan Al-Jahdali
Introduction: High white blood cell (WBC) count is an indicator of sickle cell disease (SCD) severity, however, there are limited studies on WBC counts in Saudi Arabian patients with SCD. The aim of this study was to estimate the prevalence of abnormal leukocyte count (either low or high) and identify factors associated with high WBC counts in a sample of Saudi patients with SCD. Methods: A cross-sectional and retrospective chart review study was carried out on 290 SCD patients who were routinely treated at King Fahad Hospital in Hofuf, Saudi Arabia...
2017: Journal of Blood Medicine
https://www.readbyqxmd.com/read/29117957/nocturnal-oxyhemoglobin-desaturation-and-arteriopathy-in-a-pediatric-sickle-cell-disease-cohort
#20
Nomazulu Dlamini, Dawn E Saunders, Michael Bynevelt, Sara Trompeter, Timothy C Cox, Romola S Bucks, Fenella J Kirkham
OBJECTIVE: The purpose of this study of sickle cell disease (SCD) was to determine whether arteriopathy, measurable as intracranial vessel signal loss on magnetic resonance angiography (MRA), was associated with low nocturnal hemoglobin oxygen saturation (SpO2) or hemolytic rate, measurable as reticulocytosis or unconjugated hyperbilirubinemia. METHODS: Ninety-five East London children with SCD without prior stroke had overnight pulse oximetry, of whom 47 (26 boys, 39 hemoglobin SS; mean age 9...
November 8, 2017: Neurology
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