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Shaik Jani Basha, N R Shetty, Harshad Devarbhavi
We report the case of a 42 year male with history of chronic anaemia who was found to have pernicious anaemia with beta thalassemia trait and had on esophago-gastric-duodenoscopy, gastric carcinoids with gastric atrophy. Pernicious anaemia and gastric carcinoids occurring simultaneously in a single individual is rare. Our case emphasises the need for esophago-gastric-duodenoscopy in cases of pernicious anaemia.
July 2016: Journal of the Association of Physicians of India
Zahra Rafii, Fazlollah Ahmadi, Sayed Mohamad Kazem Nourbakhsh, Ebrahim Hajizadeh
Introduction: Medical advances have improved life expectancy and survival of patients with thalassemia. However, as getting older, patients with thalassemia experience different complications which impair their quality of life. The aim of this study was to examine the effects of a nurse-implemented orientation program on quality of life in patients with thalassemia. Methods: A convenience sample of 55 patients with thalassemia were recruited in this quasi-experimental study. Patients were randomly allocated to control or experimental groups...
September 2016: Journal of Caring Sciences
Kanay Yararbaş, Yasemin Ardıçoğlu, Nejat Akar
No abstract text is available yet for this article.
October 18, 2016: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
Max B van Gent, Wendeline J van der Made, Perla J Marang-van de Mheen, Koen E van der Bogt
OBJECTIVE: To analyze the rate of infections and complications after surgeon-performed, largely ultrasound-guided, central venous catheter (CVC) placement in a pediatric population and to identify patients at high risk of complications. METHODS: All children aged between 4 months and 19 years with a percutaneous CVC inserted between January 1, 2000, and July 31, 2013, were included. Patient records were reviewed retrospectively for the occurrence of infection and other complications until CVC removal or the last outpatient clinic visit and compared between patient groups and with the recent literature...
October 14, 2016: Surgical Infections
Raffaella Origa, Fabrice Danjou, Valeria Orecchia, Antonietta Zappu, Carlo Dessì, Maria Loreta Foschini, Giovan Battista Leoni, Paolo Moi, Maddalena Morittu, Anna Demurtas, Sandro Loche
No abstract text is available yet for this article.
October 13, 2016: Blood
Suchaya Silvilairat, Pimlak Charoenkwan, Suwit Saekho, Adisak Tantiworawit, Arintaya Phrommintikul, Somdet Srichairatanakool, Nipon Chattipakorn
BACKGROUND: Iron overload cardiomyopathy remains the major cause of death in patients with transfusion-dependent thalassemia. Cardiac T2* magnetic resonance imaging is costly yet effective in detecting cardiac iron accumulation in the heart. Heart rate variability (HRV) has been used to evaluate cardiac autonomic function and is depressed in cases of thalassemia. We evaluated whether HRV could be used as an indicator for early identification of cardiac iron deposition. METHODS: One hundred and one patients with transfusion-dependent thalassemia were enrolled in this study...
2016: PloS One
Xiaotang Hu
Since 2012, the CRISPR-Cas9 system has been quickly and successfully tested in a broad range of organisms and cells including hematopoietic cells. The application of CRISPR-Cas9 in human hematopoietic cells mainly involves the genes responsible for HIV infection, β-thalassemia and sickle cell disease (SCD). The successful disruption of CCR5 and CXCR4 genes in T cells by CRISPR-Cas9 promotes the prospect of the technology in the functional cure of HIV. More recently, eliminating CCR5 and CXCR4 in induced pluripotent stem cells (iPSCs) derived from patients and targeting the HIV genome have been successfully carried out in several laboratories...
October 2, 2016: Blood Cells, Molecules & Diseases
Monia Ouederni, Monia Ben Khaled, Fethi Mellouli, Elhem Ben Fraj, Nawel Dhouib, Ismehen Ben Yakoub, Selem Abbes, Nejla Mnif, Mohamed Bejaoui
Thalassemia is a common genetic disorder in Tunisia. Early iron concentration assessment is a crucial and challenging issue. Most of annual deaths due to iron overload occurred in underdeveloped regions of the world. Limited access to liver and heart MRI monitoring might partially explain these poor prognostic results. Standard software programs are not available in Tunisia. This study is the first to evaluate iron overload in heart and liver using the MRI T2* with excel spreadsheet for post processing. Association of this MRI tool results to serum ferritin level, and echocardiography was also investigated...
October 12, 2016: Annals of Hematology
Aarti Mishra, Prashant Vn, Ashok Ml, Veeranna Gowda Km
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Tomas Ganz
Hepcidin is an iron-regulating peptide hormone made in the liver. It controls the delivery of iron to blood plasma from intestinal cells absorbing iron, from erythrocyte-recycling macrophages, and from iron-storing hepatocytes. Hepcidin acts by binding to and inactivating the sole cellular iron exporter, ferroportin, which delivers iron to plasma from all iron-transporting cells. In a classical endocrine feedback system, hepcidin production is stimulated by plasma iron and iron stores. Reflecting a likely role of hepcidin in innate immunity, hepcidin is also induced by inflammation...
2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Huma Mansoori, Sidra Asad, Anila Rashid, Farheen Karim
No abstract text is available yet for this article.
September 2016: Blood Research
Vincenzo Russo, Andrea Antonio Papa, Anna Rago, Gerardo Nigro
No abstract text is available yet for this article.
September 28, 2016: International Journal of Cardiology
Supawadee Yamsri, Naruwat Pakdee, Goonnapa Fucharoen, Kanokwan Sanchaisuriya, Supan Fucharoen
Non-transfusion-dependent thalassemia (NTDT) is associated with various forms of thalassemia and genetic modifiers. We report the molecular basis of NTDT in hemoglobin (Hb) E-β-thalassemia disease. This study was done in 73 adult patients encountered at the prenatal diagnosis center of Khon Kaen University, Northeast Thailand. Hematological parameters and Hb patterns were collected, and α- and β-globin gene mutations were determined. Multiple single-nucleotide polymorphisms (SNPs) including the rs7482144/Gγ-XmnI polymorphism, rs2297339, rs2838513, rs4895441, and rs9399137 in the HBS1L-MYB gene, rs4671393 and rs11886868 in the BCL11A gene, and G176AfsX179 in the KLF1 gene were examined...
October 7, 2016: Acta Haematologica
Melvin Khee Shing Leow
BACKGROUND AND PURPOSE: Glycated hemoglobin (HbA1c) reflects the cumulative glucose exposure of erythrocytes over a preceding time frame proportional to erythrocyte survival. HbA1c is thus an areal function of the glucose-time curve, an educationally useful concept to aid teaching and clinical judgment. METHODS: An ordinary differential equation is formulated as a parsimonious model of HbA1c. The integrated form yields HbA1c as an area-under-the-curve (AUC) of a glucose-time profile...
July 16, 2016: Acta Informatica Medica: AIM
Krzysztof Mikołajczyk, Radosław Kaczmarek, Marcin Czerwiński
Transcription factor EKLF (Erythroid Krüppel-Like Factor) belongs to the group of Krüppellike factors, which regulate proliferation, differentiation, development and apoptosis of mammalian cells. EKLF factor is present in erythroid cells, where it participates in regulation of hematopoiesis, expression of genes encoding transmembrane proteins (including blood group antigens), and heme biosynthesis enzymes. It is also a key factor in downregulation of γ-globins and activation of β-globin gene expression...
October 6, 2016: Postȩpy Higieny i Medycyny Doświadczalnej
Nelson C N Chan, Kin-Mang Lau, Kelvin C K Cheng, Natalie P H Chan, Margaret H L Ng
Genetic association studies showed that Hb F is under the influence of major quantitative trait loci (QTL) in β-thalassemia (β-thal) carriers. Single nucleotide polymorphisms (SNPs) at three major QTLs, BCL11A, HBS1L-MYB intergenic region and XmnI-HBG2, were individually validated in univariate models. However, their relative effect sizes on Hb F regulation are unknown. We genotyped 99 Chinese β-thal carriers for the three major QTLs and performed genetic association studies using three different statistical models, including mass univariate analysis, multivariate linear regression and partial least square regression structural equation modeling (PLS-SEM)...
October 5, 2016: Hemoglobin
Hung-Ju Lin, Kun-Pin Hsieh, Shyh-Shin Chiou, Hwang-Shang Kou, Shou-Mei Wu
A field-amplified sample stacking-sweeping micellar electrokinetic chromatography with short-end injection was established for determination of deferasirox (DFX) in plasma. DFX was extracted from plasma and reconstituted with deionized water (lower conductivity solution). Capillary (effective length, 10cm) was filled with background electrolyte (40mM phosphate buffer, pH 4.5, containing 20% methanol). After sample loading from outlet end at 5psi for 15s, separation was carried out by applying high voltage at 15kV for 10min...
November 30, 2016: Journal of Pharmaceutical and Biomedical Analysis
Michael A Goodman, Punam Malik
Hemoglobinopathies, including β-thalassemia and sickle cell disease (SCD), are a heterogeneous group of commonly inherited disorders affecting the function or levels of hemoglobin. Disease phenotype can be severe with substantial morbidity and mortality. Bone marrow transplantation is curative, but limited to those patients with an appropriately matched donor. Genetic therapy, which utilizes a patient's own cells, is thus an attractive therapeutic option. Numerous therapies are currently in clinical trials or in development, including therapies utilizing gene replacement therapy using lentiviruses and the latest gene editing techniques...
October 2016: Therapeutic Advances in Hematology
Amrita Panja, Prosanto Chowdhury, Anupam Basu
We describe a novel C > T substitution at codon 53 of the HBB gene (HBB: c.161C > T). The proband was a transfusion-dependent β-thalassemia major (β-TM) patient. DNA was extracted and subsequently, DNA sequencing was done to detect the mutations on the HBB gene. Capillary zone electrophoresis (CZE) revealed the presence of an unknown peak. She inherited this mutation from her grandmother through her mother. This mutation exists in cis with the common β(0) mutation IVS-I-5 (G > C) (HBB: c...
September 30, 2016: Hemoglobin
Sima M Derakhshan, Mahmoud S Khaniani, Fateme Afkhami, Abbasali H PourFeizi
The aim of this study was to determine the molecular spectrum and frequency of deletional and nondeletional α-thalassemia (α-thal) mutations and the genotype-phenotype correlation in common mutations in the Azeri population of Northwestern Iran. A total of 1256 potential carriers with microcytic and hypochromic anemia and normal Hb A2 levels (<3.5%) and without iron deficiency anemia plus three fetuses, were identified. Multiplex gap-polymerase chain reaction (gap-PCR) and sequencing for α-thal mutations were carried out...
September 30, 2016: Hemoglobin
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