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Beta Thalassemia

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https://www.readbyqxmd.com/read/28428899/watershed-infarct-in-beta-thalassemia-major-patient
#1
Behnaz Ansari, Mohammad Saadatnia, Ali Asghar Okhovat
Background. The mechanism of stroke in beta-thalassemia was reported previously as cardioembolic and hypercoagulable state. However, there is no report of watershed infarct in beta-thalassemia anemia. Method. We present an adult β-thalassemia major patient with manifest asymptomatic chronic left carotid occlusion who suffered watershed infarct. Result. In the presence of asymptomatic chronic left internal carotid occlusion, we assumed that severe anemia (hemoglobin = 3) at admission leads to watershed infarct...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28425083/restless-legs-syndrome-willis-ekbom-disease-prevalence-in-beta-thalassemia-patients
#2
Euthimia Dimitriadou, Christoforos D Giannaki, Maria Tsekoura, Ioannis Stefanidis, Georgios M Hadjigeorgiou, Eleftherios Lavdas, Christina Karatzaferi, Giorgos K Sakkas
PURPOSE: Both beta thalassemia and restless legs syndrome (RLS) patients share some common pathophysiological characteristics related to iron handling. In the present study, the aim was to explore the prevalence of RLS as well as to explore potential association between the syndrome and various quality of life-related parameters in a sample of beta thalassemia patients. METHODS: One hundred fourteen (age 40 ± 11 yr, 59 M/55F) beta thalassemia patients participated in this cross-sectional descriptive study...
April 19, 2017: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/28401102/human-parvovirus-b19-in-patients-with-beta-thalassemia-major-from-tehran-iran
#3
Seyed Ali Mohammad Arabzadeh, Farideh Alizadeh, Ahmad Tavakoli, Hamidreza Mollaei, Farah Bokharaei-Salim, Gharib Karimi, Mohammad Farahmand, Helya Sadat Mortazavi, Seyed Hamidreza Monavari
BACKGROUND: Due to the tropism of human parvovirus B19 to erythroid progenitor cells, infection in patients with an underlying hemolytic disorder such as beta-thalassemia major leads to suppression of erythrocyte formation, referred to as transient aplasia crisis (TAC), which may be life-threatening. We investigated the prevalence of parvovirus B19 among patients with beta thalassemia major attending the Zafar Adult Thalassemia Clinic in Tehran, Iran. METHODS: This cross-sectional study was performed to determine the presence of parvovirus B19 DNA in blood samples and parvovirus B19 genotypes in plasma samples of patients with thalassemia major...
March 2017: Blood Research
https://www.readbyqxmd.com/read/28399542/presence-of-the-ivs-i-6-mutated-allele-in-beta-thalassemia-major-patients-correlates-with-extramedullary-hematopoiesis-incidence
#4
Nikolaos Sousos, Despoina Adamidou, Philippos Klonizakis, Alexandra Agapidou, Stamatia Theodoridou, Georgios Spanos, Kyriakos Psarras, Evaggelia Vetsiou, Timoleon-Achilleas Vyzantiadis, Efthymia Vlachaki
Extramedullary hematopoiesis (EMH) results from the extension of hematopoietic tissue beyond the confines of the bones. Since the initiation of regular transfusion programs from an early age for all thalassemia major (ΤΜ) patients, EMH has not been considered a clinical issue anymore. The present study aims to record the prevalence of EMH in chronically transfused ΤΜ patients followed at our institution and to investigate possible risk factors associated with its occurrence. The project was designed as a retrospective, nonexperimental, descriptive, exploratory study...
April 12, 2017: Acta Haematologica
https://www.readbyqxmd.com/read/28372806/multiple-immune-disorders-after-natalizumab-discontinuation-after-the-ciris-the-siris
#5
E K Van Obberghen, M Cohen, F Rocher, C Lebrun-Frenay
Natalizumab (NTZ) is an effective treatment for patients with highly active relapsing remitting multiple sclerosis (MS). However, when the therapy must be interrupted, it is important to anticipate the withdrawal to avoid reactivation or disease rebound. Described here is the case of a 35-year-old woman, with a past history of beta thalassemia, bulimia and asthma, who was diagnosed with MS at age 26. She was treated initially with first-line subcutaneous (sc) immunomodulatory treatments. However, due to liver toxicity, interferon beta-1a sc was interrupted and replaced by glatiramer acetate treatment, which was well tolerated and used for several years...
March 31, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28367614/ophthalmic-evaluation-in-beta-thalassemia
#6
Rashid H Merchant, Hrishikesh Punde, Neepa Thacker, Deepak Bhatt
OBJECTIVES: To determine the association of ocular manifestations in beta-thalassemia with the patient's age, blood transfusion requirements, average serum ferritin and dose and duration of iron chelation therapy. METHODS: Sixty multi-transfused beta thalassemia patients of 12 to 18 y of age on chelation therapy were included in this cross-sectional analysis. Structural and functional evaluation of the retina was done using Optical coherence tomography (OCT) and Electroretinography (ERG), including flash ERG and Pattern ERG (PERG)...
April 3, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28367341/hereditary-xerocytosis-due-to-mutations-in-piezo1-gene-associated-with-heterozygous-pyruvate-kinase-deficiency-and-beta-thalassemia-trait-in-two-unrelated-families
#7
Elisa Fermo, Cristina Vercellati, Anna Paola Marcello, Anna Zaninoni, Richard van Wijk, Nadia Mirra, Cristina Curcio, Agostino Cortelezzi, Alberto Zanella, Wilma Barcellini, Paola Bianchi
Hereditary xerocytosis (HX) is a rare disorder caused by defects of RBC permeability, associated with haemolytic anaemia of variable degree and iron overload. It is sometimes misdiagnosed as hereditary spherocytosis or other congenital haemolytic anaemia. Splenectomy is contraindicated due to increased risk of thromboembolic complications. We report the clinical, haematological, and molecular characteristics of four patients from two unrelated Italian families affected by HX, associated with beta-thalassemia trait and heterozygous pyruvate kinase deficiency, respectively...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28348771/angioinvasive-mucormycosis-and-paradoxical-stroke-a-case-report
#8
Roxana Mititelu, Samuel Bourassa-Blanchette, Karan Sharma, Virginia Roth
INTRODUCTION: Rhizopus typically results in acute, aggressive and angioinvasive infection, particularly in immunosuppressed individuals. Risk factors include immunosuppression in haematologic malignancy, uncontrolled hyperglycemia, iron overload states, and older chelator agents such as deferoxamine. CASE PRESENTATION: We describe a case of a 33-year-old female with transfusion-dependent beta thalassemia who was started on intravenous deferiprone therapy and subsequently presented with a retropharyngeal abscess...
August 2016: JMM Case Reports
https://www.readbyqxmd.com/read/28343449/post-mortem-study-of-the-association-between-cardiac-iron-and-fibrosis-in-transfusion-dependent-anaemia
#9
Paul Kirk, Mary Sheppard, John-Paul Carpenter, Lisa Anderson, Taigang He, Tim St Pierre, Renzo Galanello, Gualtiero Catani, John Wood, Suthat Fucharoen, John B Porter, J Malcolm Walker, Gian Luca Forni, Dudley J Pennell
BACKGROUND: Heart failure related to cardiac siderosis remains a major cause of death in transfusion dependent anaemias. Replacement fibrosis has been reported as causative of heart failure in siderotic cardiomyopathy in historical reports, but these findings do not accord with the reversible nature of siderotic heart failure achievable with intensive iron chelation. METHODS: Ten whole human hearts (9 beta-thalassemia major, 1 sideroblastic anaemia) were examined for iron loading and fibrosis (replacement and interstitial)...
March 27, 2017: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/28321531/bone-quality-in-beta-thalassemia-intermedia-relationships-with-bone-quantity-and-endocrine-and-hematologic-variables
#10
Marina Baldini, A Marcon, F M Ulivieri, S Seghezzi, R Cassin, C Messina, M D Cappellini, G Graziadei
We report the first evaluation of bone quality in 70 thalassemia intermedia (TI) patients (37 males, 33 females, age 41 ± 12 years). Thirty-three patients (47%) had been transfused, 34 (49%) had been splenectomized, 39 (56%) were on iron chelation therapy, and 11 (16%) were on hydroxyurea. Mean hemoglobin was 9.2 ± 1.5 g/dl, median ferritin 537 ng/dl (range 14-4893), and mean liver iron concentration 7.6 ± 6.4 mg Fe/g dw. Fifteen patients (21%) had endocrinopathies, and 29 (41%) had vitamin D deficiency...
March 20, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28316434/comparison-of-deferasirox-and-deferoxamine-effects-on-iron-overload-and-immunological-changes-in-patients-with-blood-transfusion-dependent-%C3%AE-thalassemia
#11
Hayder M Al-Kuraishy, Ali I Al-Gareeb
INTRODUCTION: Beta-thalassemias are a cluster of inherited (autosomal recessive) hematological disorders prevalent in the Mediterranean area due to defects in synthesis of β chains of hemoglobin. The aim of present study was to compare the effects of deferasirox and deferoxamine on iron overload and immunological changes in patients with blood transfusion-dependent β-thalassemia major and intermedia. PATIENTS AND METHODS: This study involved 64 patients with known cases of β-thalassemia major or intermedia that has been treated with blood transfusion and iron chelators...
January 2017: Asian Journal of Transfusion Science
https://www.readbyqxmd.com/read/28293408/impact-of-donor-specific-anti-hla-antibodies-and-donor-kir-characteristics-in-haploidentical-hsct-for-beta-thalassemia
#12
Marco Andreani, Manuela Testi, Pietro Sodani, Maria Troiano, Andrea Di Luzio, Giuseppe Testa, Michela Falco, Elvira Poggi, Javid Gaziev, Antonina Piazza
No abstract text is available yet for this article.
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28279156/premature-atherosclerosis-in-children-with-beta-thalassemia-major-new-diagnostic-marker
#13
Laila M Sherief, Osama Dawood, Adel Ali, Hanan S Sherbiny, Naglaa M Kamal, Mohamed Elshanshory, Osama Abd Alazez, Mohamed Abd Alhady, Mohamed Nour, Wesam A Mokhtar
BACKGROUND: Early vascular alteration, atherosclerosis and coronary artery disease have emerged as important cardiovascular complications among beta-thalassemia major (B-TM) patients. The aims of the current study were to assess the prevalence of premature atherosclerosis among our B-TM patients, and to investigate the diagnostic value of serum Osteoprotegerin assay as an early biomarker for atherosclerosis. METHODS: This cross-sectional study was conducted at Hematology unit - Pediatric Department, Zagazig University Children Hospital- Egypt in the period from March 2014 to March 2015...
March 9, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28272531/non-invasive-prenatal-diagnosis-of-beta-thalassemia-by-semiconductor-sequencing-a-feasibility-study-in-the-sardinian-population
#14
Luisella Saba, Maddalena Masala, Valentina Capponi, Giuseppe Marceddu, Matteo Massidda, Maria Cristina Rosatelli
β-Thalassemia is the most common autosomal recessive single-gene disorder in Sardinia, where approximately 10.3% of the population is a carrier. Prenatal diagnosis is carried out at 12 weeks of gestation via villocentesis and is commonly aimed at ascertaining the presence or absence of the HBB variant c.118C>T, which is the most common in Sardinia. In this study, we describe for the first time the application of semiconductor sequencing to the non-invasive prenatal diagnosis of β-thalassemia in 37 couples at risk for this variant...
May 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28270645/kidney-function-in-patients-with-different-variants-of-beta-thalassemia
#15
Azar Nickavar, Azadeh Qmarsi, Shahla Ansari, Elham Zarei
INTRODUCTION: Renal involvement is a rare complication of β-thalassemia. Both tubular and glomerular dysfunction might occur in these patients. The aim of this study was to evaluate and compare kidney function in the major, intermedia, and minor variants of β-thalassemia. MATERIALS AND METHODS: Renal tubular and glomerular function of 72 patients with β-thalassemia (25 major, 23 intermedia, and 24 minor) were evaluated. Patients older than 40 years and those with chronic kidney disease, diabetes mellitus, congestive heart failure, associated infections, congenital anomalies of the kidney and urinary tract were excluded...
March 2017: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/28270342/cholelithiasis-and-its-complications-in-sickle-cell-disease-in-a-university-hospital
#16
Raquel Alves Martins, Renato Santos Soares, Fernanda Bernadelli De Vito, Valdirene de Fátima Barbosa, Sheila Soares Silva, Helio Moraes-Souza, Paulo Roberto Juliano Martins
INTRODUCTION: The clinical manifestations of sickle cell disease are related to the polymerization of hemoglobin S. The chronic hemolysis caused by this condition often causes the formation of gallstones that can migrate and block the common bile duct leading to acute abdomen. OBJECTIVE: This study aimed to evaluate the profile of patients with sickle cell disease and cholelithiasis. METHODS: Patients with sickle cell disease were separated into groups according to the presence or absence of cholelithiasis...
January 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/28244588/investigation-of-opg-rank-rankl-genes-as-a-genetic-marker-for-cardiac-abnormalities-in-thalassemia-major-patients
#17
Mable Misha Singh, Ravindra Kumar, Satyendra Tewari, Sarita Agarwal
OBJECTIVE: The aim of the study was to investigate the role of osteoprotegerin (OPG)/RANK/RANKL variants in left ventricular hypertrophy (LVH) and diastolic dysfunction in thalassemia major patients MATERIALS AND METHOD: One hundred and five beta-thalassemia patients who were older than 10 years of age were enrolled for the study. Two-dimensional and M-mode echocardiography analysis was done in all patients. Genotyping for OPG [rs2073617 (950 T>C), rs2073618 (1181G>C)], RANK [(rs1805034(+34694 C>T), rs12458117 (+34901 G>A) and rs75404003 (+35966insdelC)], and RANKL (rs2277438, rs9594782) variants was done using the PCR-RFLP method...
February 28, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28219045/modulating-the-selectivity-of-matriptase-2-inhibitors-with-unnatural-amino-acids
#18
Catherine St-Georges, Antoine Désilets, François Béliveau, Mariana Ghinet, Sébastien P Dion, Éloic Colombo, Pierre-Luc Boudreault, Rafael J Najmanovich, Richard Leduc, Éric Marsault
Matriptase-2, a type II transmembrane serine protease (TTSP), is expressed in the liver and regulates iron homeostasis via the cleavage of hemojuvelin. Matriptase-2 emerges as an attractive target for the treatment of conditions associated with iron overload, such as hemochromatosis or beta-thalassemia. Starting from the crystal structure of its closest homolog matriptase, we constructed a homology model of matriptase-2 in order to further optimize the selectivity of serine trap peptidomimetic inhibitors for matriptase-2 vs matriptase...
March 31, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28212878/evaluation-of-macular-vascular-abnormalities-identified-by-optical-coherence-tomography-angiography-in-sickle-cell-disease
#19
Ian C Han, Mongkol Tadarati, Katia D Pacheco, Adrienne W Scott
PURPOSE: To evaluate macular vascular flow abnormalities identified by optical coherence tomography angiography (OCT-A) in patients with various sickle cell genotypes. DESIGN: Prospective, observational case series. METHODS: This is a single institution case series of adult patients with various sickle cell genotypes. All patients underwent macular OCT-A (Avanti RTVue XR, Optovue Inc, Fremont, CA). Images were analyzed qualitatively for areas of flow loss and quantitatively for measures of foveal avascular area, parafoveal flow, and vascular density...
February 14, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28203323/the-effects-of-nutrition-exercise-and-a-praying-program-on-reducing-iron-overload-in-patients-with-beta-thalassemia-major-a-randomized-clinical-trial
#20
Zahra Molazem, Roghaye Noormohammadi, Roya Dokouhaki, Maryam Zakerinia, Zahra Bagheri
BACKGROUND: Excessive iron accumulation in the visceral organs creates problems for patients with beta-thalassemia major. Despite chelation therapy, mortality rate from the complications of this disease is still quite high. OBJECTIVES: This study aimed to investigate the effectiveness of nutrition, exercise, and a praying program at reducing iron overload in patients with beta-thalassemia major. PATIENTS AND METHODS: This randomized clinical trial assessed the effect of the designed care program on iron overload...
October 2016: Iranian Journal of Pediatrics
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