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https://www.readbyqxmd.com/read/29474985/optimal-reference-gene-selection-for-expression-studies-in-human-reticulocytes
#1
Anu Aggarwal, Manu Jamwal, Ganesh Kumar V, Prashant Sharma, Man Updesh Singh Sachdeva, Deepak Bansal, Pankaj Malhotra, Reena Das
Reference genes are indispensable for normalizing mRNA levels across samples in real-time quantitative PCR. Their expression levels vary under different experimental conditions and due to several inherent characteristics. Appropriate reference gene selection is thus critical for gene-expression studies. This study aimed at selecting optimal reference genes for gene-expression analysis of reticulocytes and validating them in hereditary spherocytosis (HS) and β-thalassemia intermedia (βTI) patients. Seven reference genes (PGK1, MPP1, HPRT1, ACTB, GAPDH, RN18S1, and SDHA) were selected from published literature...
February 20, 2018: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29468261/in-vivo-molecular-profiling-of-human-glioma-cross-sectional-observational-study-using-dynamic-susceptibility-contrast-magnetic-resonance-perfusion-imaging
#2
Johann-Martin Hempel, Jens Schittenhelm, Uwe Klose, Benjamin Bender, Georg Bier, Marco Skardelly, Ghazaleh Tabatabai, Salvador Castaneda Vega, Ulrike Ernemann, Cornelia Brendle
PURPOSE: To assess the diagnostic performance of dynamic susceptibility contrast perfusion magnetic resonance perfusion imaging (DSC-MRI) for in vivo human glioma molecular profiling. METHODS: In this study 100 patients with histopathologically confirmed glioma who provided written informed consent were retrospectively assessed between January 2016 and February 2017 in two prospective trials that were approved by the local institutional review board. Cerebral blood volume (CBV) measurements from DSC-MRI were assessed, and histogram parameters of relative CBV (rCBV) results were compared among World Health Organization (WHO) 2016 based histological findings and molecular characteristics...
February 21, 2018: Clinical Neuroradiology
https://www.readbyqxmd.com/read/29467999/the-correlation-of-cardiac-and-hepatic-hemosiderosis-as-measured-by-t2-mri-technique-with-ferritin-levels-and-hemochromatosis-gene-mutations-in-iranian-patients-with-beta-thalassemia-major
#3
Mohammad Soleiman Soltanpour, Kambiz Davari
Objectives: Organ-specific hemosiderosis and iron overload complications are more serious and more frequent in some patients with beta thalassemia major (BTM) compared with others. We investigated whether coinheritance of HFE H63D or C282Y gene mutations in patients with BTM contributes to the phenotypic variation of iron overload complications and assessed the correlation of cardiac and hepatic hemosiderosis with plasma ferritin levels. Methods: We studied 60 patients with BTM with a mean age of 17...
January 2018: Oman Medical Journal
https://www.readbyqxmd.com/read/29467991/understanding-iron-metabolism-lessons-from-transfusion-dependent-thalassemia
#4
EDITORIAL
Murtadha Al-Khabori, Shahina Daar
No abstract text is available yet for this article.
January 2018: Oman Medical Journal
https://www.readbyqxmd.com/read/29466447/role-of-t1-mapping-as-a-complementary-tool-to-t2-for-non-invasive-cardiac-iron-overload-assessment
#5
Camilla Torlasco, Elena Cassinerio, Alberto Roghi, Andrea Faini, Marco Capecchi, Amna Abdel-Gadir, Cristina Giannattasio, Gianfranco Parati, James C Moon, Maria D Cappellini, Patrizia Pedrotti
BACKGROUND: Iron overload-related heart failure is the principal cause of death in transfusion dependent patients, including those with Thalassemia Major. Linking cardiac siderosis measured by T2* to therapy improves outcomes. T1 mapping can also measure iron; preliminary data suggests it may have higher sensitivity for iron, particularly for early overload (the conventional cut-point for no iron by T2* is 20ms, but this is believed insensitive). We compared T1 mapping to T2* in cardiac iron overload...
2018: PloS One
https://www.readbyqxmd.com/read/29464999/molecular-characteristics-of-hb-new-york-%C3%AE-113-g15-val%C3%A2-glu-hbb-c-341t-a-in-thailand
#6
Attawut Chaibunruang, Kritsada Singha, Hataichanok Srivorakun, Goonnapa Fucharoen, Supan Fucharoen
Hb New York or Hb Kaohsiung [β113(G15)Val→Glu (GTG>GAG), HBB: c.341T>A] has been considered a rare β hemoglobin (Hb) variant found originally in an Iranian woman and later in diverse populations but its genetic origin has not been elucidated. Here we report molecular and hematological descriptions of this variant found in the Thai population. Among 5643 subjects referred for hemoglobinopathy investigation during January 2015 to September 2017, 183 (3.2%) were found to carry several Hb variants, including β chain variants (n = 135, 2...
February 21, 2018: Hemoglobin
https://www.readbyqxmd.com/read/29462000/clinical-burdens-of-%C3%AE-thalassemia-major-in-affected-children
#7
Huda Gharaibeh, Moussa A Barqawi, Khetam Al-Awamreh, Mohammed Al Bashtawy
BACKGROUND: β-thalassemia major (BTM) is an inherited blood disorder leading to severe anemia. A better understanding of BTM complications can be considered an important factor in developing effective health care provision. METHOD: A descriptive exploratory design was used to identify the clinical burden of BTM from affected children's perspective. A convenience sample of 45 patients with BTM, accompanied by a family member, was recruited from a governmental hospital during April-May 2015...
February 16, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29461486/from-prenatal-to-preimplantation-genetic-diagnosis-of-%C3%AE-thalassemia-prevention-model-in-8748-cases-40-years-of-single-center-experience
#8
REVIEW
Giovanni Monni, Cristina Peddes, Ambra Iuculano, Rosa Maria Ibba
The incidence of β-thalassemia in Sardinia is high and β-39 is the most common mutation. The prevention campaign started in 1977 and was performed in a single center (Microcitemico Hospital, Cagliari, Sardinia, Italy). It was based on educational programs, population screening by hematological and molecular identification of the carriers. Prenatal and pre-implantation diagnosis was offered to couples at risk. 8564 fetal diagnosis procedures using different invasive approaches and analysis techniques were performed in the last 40 years...
February 20, 2018: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/29458891/a-large-subchorionic-placental-cyst-with-thalassemia-minor-without-fetal-growth-restriction
#9
Chun-Ju Lin, Chi-Feng Su, Horng-Jyh Tsai, Chien-Kuan Lee
No abstract text is available yet for this article.
February 2018: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29458738/thalassemia
#10
EDITORIAL
Ali T Taher
No abstract text is available yet for this article.
April 2018: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/29458736/emerging-therapies
#11
REVIEW
Amaliris Guerra, Khaled M Musallam, Ali T Taher, Stefano Rivella
At present, the only definitive cure for β-thalassemia is a bone marrow transplant (BMT); however, HLA-blood-matched donors are scarcely available. Current therapies undergoing clinical investigation with most potential for therapeutic benefit are the β-globin gene transfer of patient-specific hematopoietic stem cells followed by autologous BMT. Other emerging therapies deliver exogenous regulators of several key modulators of erythropoiesis or iron homeostasis. This review focuses on current approaches for the treatment of hemoglobinopathies caused by disruptions of β-globin...
April 2018: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/29458735/gene-therapy-and-genome-editing
#12
REVIEW
Farid Boulad, Jorge Mansilla-Soto, Annalisa Cabriolu, Isabelle Rivière, Michel Sadelain
The β-thalassemias are inherited blood disorders that result from insufficient production of the β-chain of hemoglobin. More than 200 different mutations have been identified. β-Thalassemia major requires life-long transfusions. The only cure for severe β-thalassemia is to provide patients with hematopoietic stem cells. Globin gene therapy promises a curative autologous stem cell transplantation without the immunologic complications of allogeneic transplantation. The future directions of gene therapy include enhancement of lentiviral vector-based approaches, fine tuning of the conditioning regimen, and the design of safer vectors...
April 2018: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/29458734/hematopoietic-stem-cell-transplantation-in-thalassemia
#13
REVIEW
Luisa Strocchio, Franco Locatelli
Although recent advances in gene therapy are expected to increase the chance of disease cure in thalassemia major, at present hematopoietic stem cell transplantation (HSCT) remains the only consolidated curative approach for this disorder. The widest experience has been obtained in the HLA-matched family donor (MFD) setting, with probabilities of overall and thalassemia-free survival exceeding 90% and 85%, respectively. As for most patients a suitable MFD is not available, alternative donors (HLA-matched unrelated donor, unrelated cord blood, HLA-haploidentical relative) have been increasingly explored, translating into the expansion of the number of patients treatable with HSCT...
April 2018: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/29458733/fertility-and-pregnancy-in-women-with-transfusion-dependent-thalassemia
#14
REVIEW
Katie T Carlberg, Sylvia T Singer, Elliott P Vichinsky
As more women with transfusion-dependent thalassemia are seeking pregnancy, ensuring the best outcomes for both the mother and baby requires concerted, collaborative efforts between practitioners and the family. Proactive counseling, early fertility evaluation, recent developments in reproductive technology, and optimal management of iron overload, have resulted in more successful pregnancies and the birth of healthy newborns. With advances in technology for prenatal screening and increased awareness to perform screening for hemoglobinopathies, healthy pregnancy outcomes have become the expectation...
April 2018: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/29458732/mri-for-iron-overload-in-thalassemia
#15
REVIEW
Juliano Lara Fernandes
MRI is a key tool in the current management of patients with thalassemia. Given its capability of assessing iron overload in different organs noninvasively and without contrast, it has significant advantages over other metrics, including serum ferritin. Liver iron concentration can be measured either with relaxometry methods T2*/T2 or signal intensity ratio techniques. Myocardial iron can be assessed in the same examination through T2* imaging. In this review, we focus on showing how MRI evaluates iron in both organs and the clinical applications as well as practical approaches to using this tool by clinicians taking care of patients with thalassemia...
April 2018: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/29458731/iron-chelation-therapy-as-a-modality-of-management
#16
REVIEW
Yesim Aydinok
Introduction of MRI techniques for identifying and monitoring tissue iron overload and the current understanding of iron homeostasis in transfusion-dependent (TDT) and non-transfusion-dependent thalassemia have allowed for a more robust administration of iron chelation therapies. The development of safe and efficient oral iron chelators and the insights gained from large-scale prospective studies using these agents have improved iron overload management. A significant reduction in iron toxicity-induced morbidity and mortality and improvements in quality of life were observed in TDT...
April 2018: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/29458730/interaction-of-transfusion-and-iron-chelation-in-thalassemias
#17
REVIEW
John B Porter, Maciej W Garbowski
The relationship between blood transfusion intensity, chelatable iron pools, and extrahepatic iron distribution is described in thalassemia. Risk factors for cardiosiderosis are discussed with particular reference to the balance of transfusional iron loading rate and transferrin-iron utilization rate as marked by plasma levels of soluble transferrin receptors. Low transfusion regimens increase residual erythropoiesis allowing for apotransferrin-dependent clearance of non-transferrin-bound iron species otherwise destined for myocardium...
April 2018: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/29458729/hypercoagulability-and-vascular-disease
#18
REVIEW
Ali T Taher, Maria Domenica Cappellini, Rayan Bou-Fakhredin, Daniel Coriu, Khaled M Musallam
The presence of a high incidence of thrombotic events, mainly in nontransfusion-dependent β-thalassemia syndromes, has led to the identification of a hypercoagulable state in thalassemia patients. This article highlights the mechanisms leading to hypercoagulability in thalassemia. It also discusses the clinical experience and available evidence on prevention and management approaches.
April 2018: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/29458728/clinical-complications-and-their-management
#19
REVIEW
Alessia Marcon, Irene Motta, Ali T Taher, Maria Domenica Cappellini
The hallmarks of thalassemias are ineffective erythropoiesis and peripheral hemolysis leading to a cascade of events responsible for several clinical complications. This pathophysiologic mechanism can be partially controlled by blood transfusions or by correction of the severity of ineffective erythropoiesis. Thalassemias include a spectrum of phenotypes. Two main groups can be clinically distinguished: transfusion-dependent (TDT) and non-transfusion-dependent (NTDT) thalassemia. Both conditions are characterized by several clinical complications along life; some are shared, whereas some have higher prevalence in one group over the other...
April 2018: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/29458727/ineffective-erythropoiesis-anemia-and-iron-overload
#20
REVIEW
Ritama Gupta, Khaled M Musallam, Ali T Taher, Stefano Rivella
Stress erythropoiesis (SE) is characterized by an imbalance in erythroid proliferation and differentiation under increased demands of erythrocyte generation and tissue oxygenation. β-thalassemia represents a chronic state of SE, called ineffective erythropoiesis (IE), exhibiting an expansion of erythroid-progenitor pool and deposition of alpha chains on erythrocyte membranes, causing cell death and anemia. Concurrently, there is a decrease in hepcidin expression and a subsequent state of iron overload. There are substantial investigative efforts to target increased iron absorption under IE...
April 2018: Hematology/oncology Clinics of North America
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