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https://www.readbyqxmd.com/read/29149573/the-intrinsic-genetic-and-epigenetic-regulator-factors-as-therapeutic-targets-and-the-effect-on-fetal-globin-gene-expression
#1
Pegah Adelvand, Mohammed Hamid, Soroush Sardari
Introduction The effort to induce fetal globin or Hb F gene expression as an alternative therapy for blood transfusion has been ongoing for few decades, with promising results evident in patients with hemoglobinopathies. Although the clinical outcomes have been satisfactory and significant, there are still concerns about the safety of Hb F inducers in the long-term. There are potent inducers which lose their potency and safety over the course of therapy. Area Covered: In this work, efforts have been made to review the latest findings on intrinsic genetic and epigenetic factors which are able to induce the gene expression of fetal globin in adult patients with beta (β)-thalassemia Major, Intermedia and sickle cell disease (SCD)...
November 17, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/29148628/clinical-significance-of-st-depression-at-exercise-stress-testing-in-competitive-athletes-usefulness-of-coronary-ct-during-screening
#2
Fabio Sperandii, Emanuele Guerra, Eliana Tranchita, Carlo Minganti, Chiara Lanzillo, Antonia Nigro, Federico Quaranta, Attilio Parisi, Mauro DI Roma, Luciano Maresca, Federica Fagnani, Leonardo Calò
BACKGROUND: Congenital coronary anomalies (CCAs) and coronary artery disease (CAD) arouse intense scientific and clinical interest in sports medicine and sports cardiology medical communities because of their potential to trigger sudden cardiac death (SCD) in athletes. Exercise stress testing represent the first instrumental assessment to evaluate electrocardiographic changes during effort. Coronary computed tomography angiography (CCTA) is an advanced accurate noninvasive imaging modality for excluding CAD and abnormalities of origin and course of coronary vessels...
November 17, 2017: Journal of Sports Medicine and Physical Fitness
https://www.readbyqxmd.com/read/29148037/growth-performance-fatty-acid-composition-lipid-deposition-and-hepatic-lipid-metabolism-related-gene-expression-in-juvenile-pond-loach-misgurnus-anguillicaudatus-fed-diets-with-different-dietary-soybean-oil-levels
#3
Y Li, Z Jia, X Liang, D Matulic, M Hussein, J Gao
A 10 week feeding trial was conducted to evaluate the effects of different dietary soybean oil (SO) levels on growth performance, fatty-acid composition and lipid deposition in viscera, histology and histochemistry of liver, intestine and hepatic-lipid metabolism-related gene expressions in pond loach Misgurnus anguillicaudatus juveniles. Misgurnus anguillicaudatus (mean ± s.d. mass 0·40 ± 0·01 g) were fed five experimental diets containing SO at different concentrations: 0, 20, 32, 56 and 100% SO and a diet containing 100% fish oil (100% FO)...
November 17, 2017: Journal of Fish Biology
https://www.readbyqxmd.com/read/29147848/simultaneous-point-of-care-detection-of-anemia-and-sickle-cell-disease-in-tanzania-the-rapid-study
#4
Luke R Smart, Emmanuela E Ambrose, Kevin C Raphael, Adolfine Hokororo, Erasmus Kamugisha, Erika A Tyburski, Wilbur A Lam, Russell E Ware, Patrick T McGann
Both anemia and sickle cell disease (SCD) are highly prevalent across sub-Saharan Africa, and limited resources exist to diagnose these conditions quickly and accurately. The development of simple, inexpensive, and accurate point-of-care (POC) assays represents an important advance for global hematology, one that could facilitate timely and life-saving medical interventions. In this prospective study, Robust Assays for Point-of-care Identification of Disease (RAPID), we simultaneously evaluated a POC immunoassay (Sickle SCAN™) to diagnose SCD and a first-generation POC color-based assay to detect anemia...
November 16, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/29147675/newborn-screening-for-sickle-cell-disease-in-st-vincent-and-the-grenadines-results-of-a-pilot-newborn-screening-program
#5
Shelly-Ann Williams, Beneka Browne-Ferdinand, Ynolde Smart, Kristen Morella, Susan G Reed, Julie Kanter
Objective: To pilot a newborn screening program for sickle cell disease (SCD) in St. Vincent and the Grenadines using a novel partnership method to determine the feasibility of a universal newborn screening program in this country. Methods: A prospective study of mothers and their newborns was conducted between January 1, 2015, and November 1, 2015, at the country's main hospital. Mothers of infants born at this hospital were offered screening for SCD for their infants. If accepted, the newborn's heel-stick blood specimen was obtained and mailed to the South Carolina Department of Health and Environmental Control Newborn Screening Laboratory for testing...
2017: Global Pediatric Health
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
#6
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
#7
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/29143170/circumferential-strain-acquired-by-cmr-early-after-acute-myocardial-infarction-adds-incremental-predictive-value-to-late-gadolinium-enhancement-imaging-to-predict-late-myocardial-remodeling-and-subsequent-risk-of-sudden-cardiac-death
#8
Anthony A Holmes, Jorge Romero, Jeffrey M Levsky, Linda B Haramati, Newton Phuong, Leila Rezai-Gharai, Stuart Cohen, Lina Restrepo, Luis Ruiz-Guerrero, John D Fisher, Cynthia C Taub, Luigi Di Biase, Mario J Garcia
PURPOSE: Late adverse myocardial remodeling after acute myocardial infarction (AMI) is strongly associated with sudden cardiac death (SCD). Cardiac magnetic resonance (CMR) performed early after AMI can predict late remodeling and SCD risk with moderate accuracy. This study assessed the ability of CMR-measured circumferential strain (CS) to add incremental predictive information to late gadolinium enhancement (LGE). METHODS: Patients with an AMI and LVEF < 50% were screened for inclusion...
November 15, 2017: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/29142514/practice-patterns-and-clinical-significance-of-use-of-capsule-endoscopy-in-suspected-and-established-crohn-s-disease
#9
Yonghyun Kim, Seong Ran Jeon, Sang Myung Choi, Hyun Gun Kim, Tae Hee Lee, Jun-Hyung Cho, Yunho Jung, Wan Jung Kim, Bong Min Ko, Jin-Oh Kim, Joon Sung Lee, Moon Sung Lee
Background/Aims: Although the role of capsule endoscopy (CE) in Crohn's disease (CD) has expanded, CE is not used routinely for diagnosing and evaluating CD in Korea. We aimed to investigate current patterns of practice and evaluate the clinical significance of the use of CE in CD in Korean patients. Methods: Among 651 CE procedures performed for various indications, we retrospectively analyzed the medical records of patients who underwent CE in 57 cases of suspected CD (sCD) and 14 cases of established CD (eCD)...
October 2017: Intestinal Research
https://www.readbyqxmd.com/read/29142490/postoperative-elevated-resistive-indices-do-not-predict-hepatic-artery-thrombosis-in-extended-criteria-donor-livers
#10
Eric J Siskind, Fauzia Vandermeer, Tamar R Siskind, David A Bruno, Samuel Sultan, Josue Alvarez-Casas, Arielle Stafford, Barton Lane, John C Lamattina, Rolf N Barth, Steven I Hanish
Postoperative transplant liver ultrasounds were analyzed in standard criteria donor (SCD), extended criteria donor (ECD), and donation after cardiac death (DCD) liver allografts to determine if elevated resistive indices (RIs) are consistently present and if they are pathological. Postoperative transplant liver ultrasounds were reviewed from 115 consecutive patients. Hepatic arterial RIs were stratified based on the type of donor: DCD, macrosteatosis (>30%), or standard criteria. In all patients with elevated RI, subsequent ultrasounds were reviewed to demonstrate RI normalization...
December 2017: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
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
#11
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/29127681/reactivation-of-fetal-hemoglobin-for-treating-%C3%AE-thalassemia-and-sickle-cell-disease
#12
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/29127677/current-standards-of-care-and-long-term-outcomes-for-thalassemia-and-sickle-cell-disease
#13
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
#14
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
#15
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
#16
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/29127226/risk-of-sudden-cardiac-death-in-relation-to-season-specific-cold-spells-a-case-crossover-study-in-finland
#17
Niilo R I Ryti, Elina M S Mäkikyrö, Harri Antikainen, Eeva Hookana, M Juhani Junttila, Tiina M Ikäheimo, Marja-Leena Kortelainen, Heikki V Huikuri, Jouni J K Jaakkola
OBJECTIVE: To test a priori hypothesis of an association between season-specific cold spells and sudden cardiac death (SCD). METHODS: We conducted a case-crossover study of 3614 autopsy-verified cases of SCD in the Province of Oulu, Finland (1998-2011). Cold spell was statistically defined by applying an individual frequency distribution of daily temperatures at the home address during the hazard period (7 days preceding death) and 50 reference periods (same calendar days of other years) for each case using the home coordinates...
November 10, 2017: BMJ Open
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
#18
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/29122772/fc%C3%AE-r-and-scd-alloimmunization-a-nonclass-ical-act
#19
Karina Yazdanbakhsh
No abstract text is available yet for this article.
November 9, 2017: Blood
https://www.readbyqxmd.com/read/29122403/validation-of-simple-and-cost-effective-stains-to-assess-acrosomal-status-dna-damage-and-mitochondrial-activity-in-rooster-spermatozoa
#20
Bruno R Rui, Daniel S R Angrimani, João Diego A Losano, Luana de Cássia Bicudo, Marcílio Nichi, Ricardo J G Pereira
Several methods have been developed to evaluate spermatozoa function in birds but many of these are sometimes complicated, costly and not applicable to field studies (i.e., performed within poultry breeding facilities). The objective was, therefore, to validate efficient, practical and inexpensive procedures to determine DNA fragmentation, acrosomal integrity, and mitochondrial activity in poultry spermatozoa. Initially, ejaculates were individually diluted and divided into control (4°C, 4h) and UV-irradiated aliquots (room temperature, 4h), and then samples containing different percentages of DNA-damaged spermatozoa (0%, 25%, 50%, 75% and 100%) were subjected to Toluidine Blue (TB) and Sperm Chromatin Dispersion assessments (SCD)...
December 2017: Animal Reproduction Science
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