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Beta Thalassemia

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https://www.readbyqxmd.com/read/28018092/prosthetic-hip-infection-with-edwardsiella-tarda-in-sickle-cell-beta-thalassemia-disease-a-case-report
#1
David B Frumberg, Samantha E Epstein, Julio J Jauregui, Robert Pivec, Aditya V Maheshwari
Periprosthetic infection following total hip arthroplasty is a devastating complication that has been reported to occur in up to 1.6% of all primary total hip arthroplasties. We report a previously unrecognized gram-negative bacillus as the infecting agent in a patient with bilateral total hip arthroplasties for stage IV osteonecrosis. A 22-year-old male with combined sickle cell disease and beta thalassemia with a prior history of unknown hip surgeries and treatment for distal tibial osteomyelitis in Africa developed a periprosthetic joint infection; intra-operative cultures confirmed the infecting organism to be Edwardsiella tarda which was sensitive to late-generation cephalosporins and vancomycin...
October 2016: Journal of Clinical Orthopaedics and Trauma
https://www.readbyqxmd.com/read/28007617/a-novel-tandem-mass-spectrometry-method-for-first-line-screening-of-mainly-beta-thalassemia-from-dried-blood-spots
#2
Chaowen Yu, Shuodan Huang, Ming Wang, Juan Zhang, Hao Liu, Zhaojian Yuan, Xingbin Wang, Xiaoyan He, Jie Wang, Lin Zou
: Traditional methods for thalassemia screening are time-consuming and easily affected by cell hemolysis or hemoglobin degradation in stored blood samples. Tandem mass spectrometry (MS/MS) proved to be an effective technology for sickle cell disorders (SCD) screening. Here, we developed a novel MS/MS method for β-thalassemia screening from dried blood spots (DBS). Stable isotopic-labeled peptides were used as internal standards for quantification and calculation of the α:β-globin ratios...
December 20, 2016: Journal of Proteomics
https://www.readbyqxmd.com/read/28000341/heart-failure-in-haemoglobinopathies-pathophysiology-clinical-phenotypes-and%C3%A2-management
#3
REVIEW
Dimitrios Farmakis, Filippos Triposkiadis, John Lekakis, John Parissis
Hereditary haemoglobinopathies, mainly beta-thalassemia and sickle cell disease, constitute the most common monogenic disorders in humans, and although once geographically confined, they are currently globally distributed. They are demanding clinical entities that require multidisciplinary medical management. Despite their genotypic and phenotypic heterogeneity, the haemoglobinopathies share several similarities in pathophysiology, clinical manifestations, therapeutic requirements, and complications, among which heart failure (HF) represents a leading cause of mortality and morbidity...
December 20, 2016: European Journal of Heart Failure
https://www.readbyqxmd.com/read/27999484/effects-of-home-care-training-on-the-self-efficacy-of-patients-with-beta-thalassemia-major
#4
Mahdieh Poodineh Moghadam, Hajar Nourisancho, Hossein Shahdadi, Sohila Shahraki, Batoul Azarkish, Abbas Balouchi
BACKGROUND: The self-efficacy of thalassemia patients is an important factor in creating behavioral changes in such patients. Home-care training reduces hospitalization duration as well as relevant costs and improves disease outcomes. This study was designed to assess the effect of home-care training on the self-efficacy of patients with beta thalassemia major. METHODOLOGY: This was a quasi-experimental, case-control, before and after intervention study conducted on 136 thalassemia cases from January 2014 to October 2015...
October 2016: Materia Socio-medica
https://www.readbyqxmd.com/read/27979672/-neonatal-expression-of-beta-thalassemia-trait-associated-with-hereditary-spherocytosis-in-two-monozygotic-twins
#5
H Ben Hamouda, B Mahjoub, H Soua, S Laradi, A Miled, M T Sfar
The beta-thalassemia trait is a heterozygous beta-thalassemia characterized by a partial deficiency of the synthesis of beta-globin chains of hemoglobin. It is usually asymptomatic and the diagnosis is often made on the occasion of the completion of a systematic blood count or a family survey. Clinical expression during the neonatal period is impossible and its association with hereditary spherocytosis is common. We report two monozygotic twins who, on the 3rd day of life, presented intense jaundice, unconjugated bilirubin associated with anemia, without hepatosplenomegaly...
December 12, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27941710/could-heterozygous-beta-thalassemia-provide-protection-against-multiple-sclerosis
#6
Mehmet Ali Cikrikcioglu, Muhammed Emin Ozcan, Gulistan Halac, Ilhami Gultepe, Kenan Celik, Yahya Sekin, Elif Ece Eser, Sebnem Burhan, Guven Cetin, Omer Uysal
BACKGROUND Heterozygous beta thalassemia (HBT) has been proposed to increase the risk of developing autoimmune disease. Our aim in this study was to examine the prevalence of HBT among multiple sclerosis (MS) patients. MATERIAL AND METHODS HBT frequency was investigated in our MS group (243 patients with MS). Hemoglobin electrophoresis (HE) was carried out if MS patients had a mean corpuscular volume of (MCV) <80 fL and a mean corpuscular hemoglobin level of (MCH) <27 pg/L according to a complete blood count (CBC)...
December 11, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/27928477/health-related-quality-of-life-and-health-utility-values-in-beta-thalassemia-major-patients-receiving-different-types-of-iron-chelators-in-iran
#7
Meysam Seyedifar, Farid Abedin Dorkoosh, Amir Ali Hamidieh, Majid Naderi, Hossein Karami, Mehran Karimi, Masoomeh Fadaiyrayeny, Masoumeh Musavi, Sanaz Safaei, Mohammad Mahdi Ahmadian-Attari, Molouk Hadjibabaie, Abdol Majid Cheraghali, Ali Akbari Sari
Background: Thalassemia is a chronic, inherited blood disorder, which in its most severe form, causes life-threatening anemia. Thalassemia patients not only engage with difficulties of blood transfusion and iron chelating therapy but also have some social challenges and health threatening factors. There are some reports on quality of life in thalassemia patients around the world from southeast of Asia to Italy in Europe and United States. In this study, we tried to evaluate and compare Health Related Quality of life (HRQoL) and the health utility in beta thalassemia major patients receiving different types of iron chelators and living in different socio-economical situations...
October 1, 2016: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/27928257/evaluating-the-correlation-between-serum-nt-probnp-level-and-diastolic-dysfunction-severity-in-beta-thalassemia-major-patients
#8
Behzad Alizadeh, Zahra Badiee, Mahmoud Mahmoudi, Mahsa Mohajery
Background: N-terminal pro-brain natriuretic peptide (NT-proBNP) is a sensitive biomarker for the detection of asymptomatic left ventricular (LV) dysfunction. Since β-thalassemia major patients suffer from early diastolic dysfunction due to iron deposition of chronic blood transfusion, we tried to evaluate the correlation between the serum NT-proBNP level and the severity of LV diastolic dysfunction determined by echocardiography in these patients. Methods: Fifty β-thalassemia major patients with normal LV systolic function were studied by tissue Doppler echocardiography, and blood samples were taken at the same time to measure the serum NT-proBNP level...
April 13, 2016: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/27924466/quality-of-life-in-children-with-thalassemia-and-their-caregivers-in-india
#9
Sapna Sharma, Bageshree Seth, Prashant Jawade, Madhavi Ingale, Maninder Singh Setia
OBJECTIVES: To assess and compare the Quality of Life (QOL) of children with beta-thalassemia major on regular transfusion therapy with normal children, and of the caregivers of children with beta-thalassemia major to that of caregivers of normal children. METHODS: A cross-sectional comparison of QOL in 75 thalassemic and 80 non-thalassemic children was conducted using the PedsQL™ 4.0 generic core scale. Also self-rated health was assessed in their caregivers using Short Form-36 Health Survey...
December 7, 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27890361/iron-dysregulation-in-beta-thalassemia
#10
REVIEW
Kamonlak Leecharoenkiat, Pathrapol Lithanatudom, Wannapa Sornjai, Duncan R Smith
Iron deficiency anemia and iron overload conditions affect more than one billion people worldwide. Iron homeostasis involves the regulation of cells that export iron into the plasma and cells that utilize or store iron. The cellular iron balance in humans is primarily mediated by the hepcidin-ferroportin axis. Ferroportin is the sole cellular iron export protein, and its expression is regulated transcriptionally, post-transcriptionally and post-translationally. Hepcidin, a hormone produced by liver cells, post-translationally regulates ferroportin expression on iron exporting cells by binding with ferroportin and promoting its internalization by endocytosis and subsequent degradation by lysosomes...
November 2016: Asian Pacific Journal of Tropical Medicine
https://www.readbyqxmd.com/read/27878421/the-role-of-the-atrial-electromechanical-delay-in-predicting-atrial-fibrillation-in-beta-thalassemia-major-patients
#11
Anna Rago, Vincenzo Russo, Andrea Antonio Papa, Carmine Ciardiello, Bruno Pannone, Maria Carolina Mayer, Giovanni Cimmino, Gerardo Nigro
BACKGROUND: Paroxysmal atrial tachyarrhythmias frequently occur in beta-thalassemia major (β-TM) patients. The aim of the current study was to evaluate the atrial electromechanical delay (AEMD) in a large β-TM population with normal cardiac function and its relationship to atrial fibrillation (AF) onset. METHODS: Eighty β-TM patients (44 men, 36 women), with a mean age of 36.2 ± 11.1 years, and 80 healthy subjects used as controls, matched for age and gender, were studied for the occurrence of AF during a 5-year follow-up, through 30-day external loop recorder (ELR) monitoring performed every 6 months...
November 22, 2016: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/27872728/what-unrelated-hematopoietic-stem-cell-transplantation-in-thalassemia-taught-us-about-transplant-immunogenetics
#12
REVIEW
Giorgio La Nasa, Adriana Vacca, Roberto Littera, Eugenia Piras, Sandro Orru, Marianna Greco, Carlo Carcassi, Giovanni Caocci
Although the past few decades have shown an improvement in the survival and complication-free survival rates in patients with beta-thalassemia major and gene therapy is already at an advanced stage of experimentation, hematopoietic stem cell transplantation (HSCT) continues to be the only effective and realistic approach to the cure of this chronic non-malignant disease. Historically, human leukocyte antigen (HLA)-matched siblings have been the preferred source of donor cells owing to superior outcomes compared with HSCT from other sources...
2016: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/27872702/gamma-reactivation-using-the-spongy-effect-of-klf1-binding-site-sequence-an-approach-in-gene-therapy-for-beta-thalassemia
#13
Nasrin Heydari, Laleh Shariati, Hossein Khanahmad, Zahra Hejazi, Mansoureh Shahbazi, Mansoor Salehi
OBJECTIVES: β-thalassemia is one of the most common genetic disorders in the world. As one of the promising treatment strategies, fetal hemoglobin (Hb F) can be induced. The present study was an attempt to reactivate the γ-globin gene by introducing a gene construct containing KLF1 binding sites to the K562 cell line. MATERIALS AND METHODS: A plasmid containing a 192 bp sequence with two repeats of KLF1 binding sites on β-globin and BCL11A promoters was constructed and used to transfect the K562 cell line...
October 2016: Iranian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/27871907/prognostic-value-of-t786c-and-g894t-enos-polymorphisms-in-sickle-cell-disease
#14
Iakovos Armenis, Vassiliki Kalotychou, Revekka Tzanetea, Panagoula Kollia, Zoi Kontogeorgiou, Dimitra Anastasopoulou, Marina Mantzourani, Michael Samarkos, Konstantinos Pantos, Kostas Konstantopoulos, Ioannis Rombos
Endothelial Nitric Oxide Synthase (eNOS) is crucial for vascular homeostasis. Polymorphisms T786C and G894T affect eNOS regulation and have been related to various diseases. Sickle Cell Disease (SCD), a clinically diverse chronic hemolytic anemia, implies impaired nitric oxide bioavailability. Our aim was to determine eNOS genotype for T786C and G894T polymorphisms in Greek patients with SCD and to elucidate its consequences and effects if any on clinical phenotype. Seventy nine steady state cases, mostly compound heterozygous for Sickle Cell anemia/beta thalassemia and 48 controls were measured...
January 30, 2017: Nitric Oxide: Biology and Chemistry
https://www.readbyqxmd.com/read/27870471/analytical-evaluation-of-the-adams-%C3%A2-a1c-ha-8180-thalassemia-mode-high-pressure-liquid-chromatography-analyser-for-the-measurement-of-hba2-and-hbf
#15
E Urrechaga
BACKGROUND: ADAMS(™) A1cHA-8180T is a HPLC system; within 3.5 min, it quantifies HbF, HbA2 , and HbA0 and flags abnormal peaks. We evaluate its analytical performance for routine estimation of HbA2 and HbF, and critical tests were performed for identifying β-thalassemia carriers. METHODS: Trueness imprecision, carry over, linearity, and effect of anemia were evaluated according to ICLH, ICLS, or manufacture's guidelines. Comparison (ADAMS(™) A1c HA-8160T) was performed by running 400 samples from healthy subjects, 30 alpha and 80 beta carriers (range: 1...
December 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27863763/guidelines-on-beta-thalassemia-major-regular-blood-transfusion-therapy-associa%C3%A3-%C3%A3-o-brasileira-de-hematologia-hemoterapia-e-terapia-celular-project-guidelines-associa%C3%A3-%C3%A3-o-m%C3%A3-dica-brasileira-2016
#16
Dante Langhi, Eugênia Maria Amorim Ubiali, José Francisco Comenalli Marques, Mônica de Almeida Verissimo, Sandra Regina Loggetto, Antonio Silvinato, Wanderley Marques Bernardo
No abstract text is available yet for this article.
October 2016: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/27857026/the-association-between-health-promoting-lifestyle-and-quality-of-life-among-adults-with-beta-thalassemia-major
#17
Aghbabak Maheri, Roya Sedeghi, Davoud Shojaeezadeh, Azar Tol, Mehdi Yaseri, Mojtaba Ebrahimi
Objectives: Health promoting lifestyle (HPL) is one of the factors affecting the quality of life (QoL) among patients with beta-thalassemia (β-thalassemia). Due to the lack of studies in this field, this study aimed at determining" the association between HPL and QoL among adults with β-thalassemia ". Methods: This cross-sectional (descriptive-analytic )study conducted among 389 adult patients with β-thalassemia in Tehran, Iran. The research instrument included a questionnaire consisting of three parts; demographic items, Short-Form Health Survey (SF-12) and Health Promoting Lifestyle Profile (HPLP-II)...
November 15, 2016: Epidemiology and Health
https://www.readbyqxmd.com/read/27855617/eryptosis-ally-or-enemy
#18
Marilena Briglia, Maria Antonia Rossi, Caterina Faggio
Prior to senescence, erythrocytes may, experience injury which compromises their integrity and thus triggers suicidal erythrocyte death or eryptosis. This mechanism is characterised by cell shrinkage, cell membrane blebbing, and cell membrane phospholipid scrambling after phosphatidylserine exposure on the cell surface that is identified by macrophages which engulf and degrade the eryptotic cells. The term eryptosis also includes typical mechanisms, which contribute to the triggering of this process. Among them: oxidative stress, Ca2+ entry with an increase in cytosolic Ca2+ activity ([Ca ]i) and the activation of p38 kinase, which is a kinase expressed in human erythrocytes and activated after hyperosmotic shock...
November 18, 2016: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/27853501/evaluation-of-iron-deposition-in-the-adrenal-glands-of-%C3%AE-thalassemia-major-patients-using-3-tesla-mri
#19
Tevfik Guzelbey, Bengi Gurses, Erman Ozturk, Olcay Ozveren, Aysegul Sarsilmaz, Ebru Karasu
BACKGROUND: Beta-thalassemia major (β-TM) patients need blood transfusions, which result in iron deposition. To regulate chelation therapy, iron load has to be measured. With MRI, the amount of signal loss and T2* decay time shortening are used for iron quantification. OBJECTIVES: The aim was to measure adrenal iron load with T2* relaxometry using MRI, and to compare it with liver and cardiac iron and serum ferritin, and to find out whether adrenal iron could be predicted from those parameters...
July 2016: Iranian Journal of Radiology: a Quarterly Journal Published By the Iranian Radiological Society
https://www.readbyqxmd.com/read/27848919/clinical-and-biological-specificity-of-beta-thalassemia-intermedia-a-case-report
#20
Jean-Maxime Girard, Guillaume Drevin, Jean-François Brasme, Serge Pissard, Pascal Reynier, Gilles Simard, Marie-Christine Denis
We report the case of a nine-year-old girl, of Moroccan origin, hospitalised for fever and stomach ache. The clinical and biological investigations showed merely a moderate enlargement of the spleen associated with discrete regenerative hemolytic anemia. The etiologic analysis of the hemolysis was completed by the electrophoresis of hemoglobin (Hb) that revealed total absence of HbA, with the presence of 98.7% of HbF and 1.3% of HbA2. These results led to a diagnosis of β0 thalassemia associated with an intermediate phenotype, i...
December 1, 2016: Annales de Biologie Clinique
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