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thalassemia major

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https://www.readbyqxmd.com/read/28777254/t-type-and-l-type-calcium-channel-blockers-for-the-treatment-of-cardiac-iron-overload-an-update
#1
Sirinart Kumfu, Siriporn C Chattipakorn, Nipon Chattipakorn
In thalassemia patients iron overload cardiomyopathy is a major cause of cardiac dysfunction and mortality. Despite many advances in the development of new iron chelating agents, heart failure still occurs in some patients and can lead to an increase in mortality rate. Recently, potential novel therapeutic strategies in the treatment of these patients have focused on L-type and T-type calcium channel blockers. These two channels have been reported as being the main routes for cardiac iron uptake under conditions of iron overload...
August 4, 2017: Journal of Cardiovascular Pharmacology
https://www.readbyqxmd.com/read/28771834/molecular-prenatal-diagnosis-of-alpha-and-beta-thalassemia-in-pregnant-hakka-women-in-southern-china
#2
Pingsen Zhao, Heming Wu, Zhixiong Zhong, Liubing Lan, Mei Zeng, Hualan Lin, Huaxian Wang, Zhiyuan Zheng, Luxian Su, Wei Guo
BACKGROUND: To date, there has been no systematic study of DNA-based prenatal diagnosis of thalassemia in pregnant Hakka women in southern China. METHODS: A total of 279 pregnant Hakka women with confirmed cases of thalassemia who had been treated at the Meizhou People's Hospital in China's Guangdong Province from January 2014 to December 2016 were here enrolled. Genomic DNA was extracted from peripheral blood of couples and villus, amniotic fluid, or fetal cord blood...
August 3, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28770881/molecular-genetics-and-prenatal-diagnosis-of-beta-thalassemia-to-control-transfusion-dependent-births-in-carrier-pakistani-couples
#3
Sumaira Kanwal, Sehrish Bukhari, Shazia Perveen
OBJECTIVE: To examine molecular genetics and prenatal diagnosis of beta-thalassaemia. METHODS: The study was conducted at the COMSATS Institute of Information Technology, Sahiwal, Pakistan, from October 2012 to October 2013, and comprised families having children affected by thalassaemia and autosomal recessive b-thalassemia. Blood samples of thalassaemic children and their parents were collected from different areas of Pakistan. They were screened for reported mutations through amplification refractory mutation system-polymerase chain reaction...
July 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28770456/detection-of-myocardial-iron-overload-by-two-dimensional-speckle-tracking-in-patients-with-beta-thalassaemia-major-a-combined-echocardiographic-and-t2-segmental-cmr-study
#4
Fausto Pizzino, Antonella Meloni, Anna Terrizzi, Tommaso Casini, Anna Spasiano, Carlo Cosmi, Massimo Allò, Concetta Zito, Scipione Carerj, Giovanni Donato Aquaro, Gianluca Di Bella, Alessia Pepe
We aimed to evaluate the role of two-dimensional speckle tracking imaging (2DSTI) in detecting early changes of myocardial deformation in patients affected by thalassemia major (TM) and its relation with myocardial iron overload (MIO) detected by T2* cardiovascular magnetic resonance (CMR). We studied 28 TM patients (15 males, 37.4 ± 10 years). All patients underwent CMR and echocardiography in the same day. Segmental and global T2* values were measured. Values of global longitudinal strain (GLS) were derived from the three apical views, while radial and circumferential strain were obtained as average strain from the short axis views at basal, mid and apical level...
August 2, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28762844/correlation-of-pancreatic-iron-overload-measured-by-t2-weighted-magnetic-resonance-imaging-in-diabetic-patients-with-%C3%AE-thalassemia-major
#5
Mehrnoush Kosaryan, Malihe Rahimi, Hadi Darvishi-Khezri, Neda Gholizadeh, Rozita Akbarzadeh, Aily Aliasgharian
Diabetes mellitus (DM) is one of the potential complications in patients with transfusion-dependent β-thalassemia major (β-TM). In this case-controlled study, we examined the pancreatic iron levels in outpatients with β-TM. In this study, cases of patients with β-TM and DM were gender- and age-matched with control subjects, who were non-diabetic and had normal blood glucose on standard oral glucose tolerance (OGTT) tests. One of four diagnoses [normal, pre-diabetes, impaired glucose tolerance (IGT), DM] was made according to the American Diabetes Association (ADA) criteria...
August 1, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28759343/epidemiologic-study-of-major-complications-in-adolescent-and-adult-patients-with-thalassemia-in-northeastern-thailand-the-e-saan-study-phase-i
#6
Nattiya Teawtrakul, Arunee Jetsrisuparb, Saranya Pongudom, Chittima Sirijerachai, Kanchana Chansung, Chinadol Wanitpongpun, Supan Fucharoen
INTRODUCTION: Thalassemia-related complications are one of the main factors that increase morbidity and mortality in aging patients with thalassemia. This study was aimed to report the prevalence and clinical risk factors for the complications in thalassemia. METHODS: A multi-center prospective cohort study was conducted in patients with thalassemia aged ≥10 years old. Thalassemia-related complications were heart failure, pulmonary hypertension, extramedullary hematopoiesis, endocrine disorders, infections, thrombosis and leg ulcers...
July 31, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28756994/dual-energy-x-ray-absorptiometry-predictors-of-vertebral-deformities-in-beta-thalassemia-major
#7
Giangiacomo Osella, Adriano Massimiliano Priola, Sandro Massimo Priola, Antonio Piga, Filomena Longo, Massimo Ventura, Giuseppe Bentivegna, Alberto Angeli, Andrea Veltri, Massimo Terzolo
Vertebral fractures in beta-thalassemia major are increasingly found because of the longer life expectancy of patients, with a major negative impact on their quality of life. We performed a retrospective cross-sectional study to investigate the prevalence of vertebral deformities in thalassemic patients and to identify their best dual-energy X-ray absorptiometry (DXA) predictor among trabecular bone score (TBS), bone mineral density (BMD), and Z-score. Eighty-two outpatients with beta-thalassemia major on regular conventional treatment were studied at a single academic center...
July 27, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28748286/normalized-levels-of-red-blood-cells-expressing-phosphatidylserine-their-microparticles-and-activated-platelets-in-young-patients-with-%C3%AE-thalassemia-following-bone-marrow-transplantation
#8
Phatchanat Klaihmon, Sinmanus Vimonpatranon, Egarit Noulsri, Surapong Lertthammakiat, Usanarat Anurathapan, Nongnuch Sirachainan, Suradej Hongeng, Kovit Pattanapanyasat
Bone marrow transplantation (BMT) serves as the only curative treatment for patients with β-thalassemia major; however, hemostatic changes have been observed in these BMT patients. Aggregability of thalassemic red blood cells (RBCs) and increased red blood cell-derived microparticles (RMPs) expressing phosphatidylserine (PS) are thought to participate in thromboembolic events by initially triggering platelet activation. To our knowledge, there has been no report providing quantitation of these circulating PS-expressing RBCs and RMPs in young β-thalassemia patients after BMT...
July 26, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28743121/a-severe-case-of-hemoglobin-h-disease-due-to-compound-heterozygosity-for-deletion-of-the-major-%C3%AE-globin-regulatory-element-mcs-r2-and-%C3%AE-0-thalassemia
#9
Lv-Yin Huang, Jin-Mei Yan, Jian-Ying Zhou, Jian Li, Xing-Mei Xie, Dong-Zhi Li
No abstract text is available yet for this article.
July 26, 2017: Acta Haematologica
https://www.readbyqxmd.com/read/28741988/comparison-of-quality-of-life-in-patients-with-%C3%AE-thalassemia-intermedia-and-%C3%AE-thalassemia-major-in-southern-iran
#10
Sezaneh Haghpanah, Sara Vahdati, Mehran Karimi
Increased life expectancy in patients with β-thalassemia (β-thal) requires healthcare professionals to give greater attention to improving their quality of life (QoL). We aimed to evaluate health-related QoL (HRQoL) and its determinants in patients with β-thal intermedia (β-TI) compared with β-thal major (β-TM). In this cross sectional study, 118 patients with β-TI, referred to the Thalassemia Clinic of Shiraz University of Medical Sciences, Shiraz, Iran, were investigated by convenience sampling from January to June 2014 in southern Iran...
July 25, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28739553/acute-effects-of-blood-transfusion-on-insulin-sensitivity-and-beta-cell-function-in-children-with-beta-thalassemia-hbe-disease
#11
Somboon Wankanit, Ampaiwan Chuansumrit, Preamrudee Poomthavorn, Patcharin Khlairit, Sarunyu Pongratanakul, Pat Mahachoklertwattana
OBJECTIVE: To assess acute effects of blood transfusion on insulin sensitivity and β-cell function in thalassemia patients. METHODS: Fifty children and adolescents with β-thalassemia/HbE disease were enrolled in a prospective cohort study. Hemoglobin, serum ferritin and oral glucose tolerance test (OGTT) were performed prior to, and one week after blood transfusion. Insulin sensitivity indices [Homeostatic Model Assessment (HOMA) of Insulin Resistance (HOMA-IR), Whole Body Insulin Sensitivity Index (WBISI)] and β-cell function indices [HOMA of β-cell function (HOMA-β), Insulinogenic Index (IGI), and Disposition Index (DI)] were calculated from glucose and insulin levels obtained during the OGTT...
July 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28732253/diminished-ovarian-reserve-in-women-with-transfusion-dependent-beta-thalassemia-major-is-iron-gonadotoxic
#12
Aysel Uysal, Gül Alkan, Ayşegül Kurtoğlu, Onur Erol, Erdal Kurtoğlu
OBJECTIVE: Iron accumulation in the endocrine glands has been implicated in the aetiopathogenesis of decreased reproductive capacity in patients with beta-thalassemia major (β-TM). The aim of the current study was to investigate the serum concentration of anti-Müllerian hormone (AMH), a marker of ovarian reserve, in women with transfusion-dependent β-TM. STUDY DESIGN: In this case-control study, we recruited 43 women with transfusion-dependent TM and 44 age-matched healthy controls...
July 5, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28713591/the-effect-of-partnership-care-model-on-mental-health-of-patients-with-thalassemia-major
#13
Afzal Shamsi, Fardin Amiri, Abbas Ebadi, Musab Ghaderi
BACKGROUND: Thalassemia major has become a public health problem worldwide, particularly in developing and poor countries, while the role of educating the family and community has not been considered enough in patients' care. OBJECTIVES: This study examines the impact of partnership care model on mental health of patients with beta-thalassemia major. MATERIALS AND METHODS: This experimental study, with pretest and posttest design, was performed on patients with beta-thalassemia major in Jiroft city...
2017: Depression Research and Treatment
https://www.readbyqxmd.com/read/28712490/pneumococcal-vaccination-for-splenectomized-patients-with-thalassemia-major-in-indonesia
#14
Teny Tjitra Sari, Arwin Ali P Akib, Djajadiman Gatot, Alida Roswita Harahap, Saptawati Bardosono, Sri Rezeki S Hadinegoro
INTRODUCTION: Streptococcus pneumoniae is a capsulated bacterium that can cause severe infection in patients with thalassemia major, particularly those who have undergone splenectomy. The absence of the spleen as well as zinc deficiency in splenectomized patients with thalassemia major increases the possibility of developing invasive pneumococcal infection. The aims of this study are to evaluate pneumococcal IgG levels following PCV and PPV immunizations and the effect of zinc supplementation on qualitative specific immune responses in splenectomized patients with thalassemia...
July 13, 2017: Vaccine
https://www.readbyqxmd.com/read/28686324/demographics-and-co-occurring-conditions-in-a-clinic-based-cohort-with-down-syndrome-in-the-united-arab-emirates
#15
Jennifer Price Corder, Fatima Jaber Sehmi Al Ahbabi, Hind Saif Al Dhaheri, Fares Chedid
The majority of studies describing demographics and co-occurring conditions in cohorts with Down syndrome come from regions outside of the Middle East, mainly from Europe and North America. This paper describes demographics and co-occurring conditions in a hospital-based cohort of individuals with Down syndrome living in the Middle Eastern country of the United Arab Emirates (UAE). The first dedicated Down syndrome clinic in the UAE was established in 2012 at Tawam Hospital in Al Ain. This paper describes a clinic-based cohort of 221 participants over 4 years from the Gulf Down Syndrome Registry, a new Down syndrome database and contact registry created at Tawam Hospital...
July 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28684426/arabidopsis-atrx-modulates-h3-3-occupancy-and-fine-tunes-gene-expression
#16
Céline Duc, Matthias Benoit, Gwénaëlle Détourné, Lauriane Simon, Axel Poulet, Matthieu Jung, Alaguraj Veluchamy, David Latrasse, Samuel Le Goff, Sylviane Cotterell, Christophe Tatout, Moussa Benhamed, Aline V Probst
Histones are essential components of the nucleosome, the major chromatin subunit that structures linear DNA molecules and regulates access of other proteins to DNA. Specific histone chaperone complexes control the correct deposition of canonical histones and their variants to modulate nucleosome structure and stability. In this study, we characterize the Arabidopsis thaliana Alpha Thalassemia-mental Retardation X-linked (ATRX) ortholog and show that ATRX is involved in histone H3 deposition. Arabidopsis ATRX mutant alleles are viable, but show developmental defects and reduced fertility...
July 2017: Plant Cell
https://www.readbyqxmd.com/read/28680867/self-care-in-patient-with-major-thalassemia-a-grounded-theory
#17
Batool Pouraboli, Heidar Ali Abedi, Abbass Abbaszadeh, Majid Kazemi
Introduction: Self-care is the core concept of health care and may be considered as one's stabilization, and restoration as well as the improvement of his/her health and well-being. Looking at the process of Self-care from patients' perspective who suffer from thalassemia may assist the nurses and health care providers to facilitate the health process. Thus this study was conducted to discover the process of self-care in patients with major thalassemia. Methods: This qualitative study was conducted with grounded theory approach...
June 2017: Journal of Caring Sciences
https://www.readbyqxmd.com/read/28680595/cytomegalovirus-infection-in-a-splenectomized-with-%C3%AE-thalassemia-major-immunocompetent-or-immunosuppressed
#18
George D Liatsos, Maria Pirounaki, Angelina Lazareva, Georgia Kikezou, Spyridon P Dourakis
We should possibly revise our knowledge about risk assessment of splenectomized individuals with β-thalassemia major. Besides their known risk of certain bacterial infection, they might be also in a risk of life-threatening primary cytomegalovirus (CMV) infection and end-, multi-organ disease, in the context of their immunosuppression status. Prompt and appropriate treatment initiation can be life saving.
July 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28680334/expression-of-cd55-cd59-and-cd35-on-red-blood-cells-of-%C3%AE-thalassaemia-patients
#19
Ayşegül Uǧur Kurtoǧllu, Belkls Koçtekin, Erdal Kurtoǧlu, Mustafa Yildiz, Selen Bozkurt
AIM OF THE STUDY: β-thalassaemia (β-Thal) is considered a severe, progressive haemolytic anaemia, which needs regular blood transfusions for life expectancy. Complement-mediated erythrocyte destruction can cause both intravascular and extravascular haemolysis. Complement regulatory proteins protect cells from such effects of the complement system. We aimed to perform quantitative analysis of membrane-bound complement regulators, CD55 (decay accelerating factor - DAF), CD35 (complement receptor type 1 - CR1), and CD59 (membrane attack complex inhibitory factor - MACIF) on peripheral red blood cells by flow cytometry...
2017: Central-European Journal of Immunology
https://www.readbyqxmd.com/read/28680206/avascular-necrosis-of-talus-diagnosed-on-tc-99m-mdp-bone-scan
#20
Ashish R Kamra, Shwetal U Pawar, Suruchi Shetye, Preeti R Singh
Avascular necrosis (AVN) of bone is defined as the cellular death of bone components due to the interruption of the blood supply; the bone structures then collapse, resulting in pain and loss of joint function. Magnetic resonance imaging (MRI) is the gold standard to diagnose AVN. We present an unusual case of AVN of talus in a patient of thalassemia major that was diagnosed on the Tc-99m MDP bone scan with equivocal findings on MRI. Key Message: The diagnosis of AVN is primarily done using radiological investigations...
July 2017: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
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