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Thalassemia

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https://www.readbyqxmd.com/read/29667086/contrast-enhancement-predicting-survival-in-integrated-molecular-subtypes-of-diffuse-glioma-an-observational-cohort-study
#1
Johann-Martin Hempel, Cornelia Brendle, Benjamin Bender, Georg Bier, Marco Skardelly, Irina Gepfner-Tuma, Franziska Eckert, Ulrike Ernemann, Jens Schittenhelm
INTRODUCTION: To assess the predictive value of magnetic resonance imaging (MRI) gadolinium enhancement as a prognostic factor in the 2016 World Health Organization Classification of Tumors of the Central Nervous System integrated glioma groups. METHODS: Four-hundred fifty patients with histopathologically confirmed glioma were retrospectively assessed between 07/1997 and 06/2014 using gadolinium enhancement, survival, and relevant prognostic molecular data [isocitrate dehydrogenase (IDH); alpha-thalassemia/mental retardation syndrome X-linked (ATRX); chromosome 1p/19q loss of heterozygosity; and O6-methylguanine DNA methyltransferase (MGMT)]...
April 17, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29665945/-research-progress-on-the-laboratory-diagnosis-for-thalassemia-review
#2
Yue Fu, Wen-Jun Liu
Thalassemia laboratory diagnostic techniques include screening test and genetic test, the former diagnosis method is mainly based on the morphology of red blood cells and the physical and chemical properties, including routine analysis of blood, red blood cell morphology test, red blood cell permeability test, hemoglobin component analysis, etc. The latter is mainly based on various of molecular biology experiments developed on the basis of PCR, including gap-PCR,PCR-RDB,melting curve analysis,high resolution melting analysis,real-time PCR,gene chip and DNA sequencing, etc...
April 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/29664655/short-term-assessment-of-hsct-effects-on-the-hypothalamus-pituitary-axis-in-pediatric-thalassemic-patients
#3
Amir Ali Hamidieh, Fariba Mohseni, Maryam Behfar, Zohreh Hamidi, Kamran Alimoghaddam, Mohamad Pajouhi, Bagher Larijani, Mohammad-Reza Mohajeri-Tehrani, Ardeshir Ghavamzadeh
BACKGROUND: Beta thalassemia major (BTM) and its treatment by hematopoietic stem cell transplantation (HSCT) may have deleterious effects on the endocrine systems. We assessed endocrine complications of HSCT in pediatric patients for 3 months. METHODS: In 20 (6 female) pediatric major thalassemic patients (mean age of 10.8 ± 3.9 years old), prolactin, luteinizing hormone (LH), follicle-stimulating hormone (FSH), T4, T3, thyroid-stimulating hormone (TSH), IGF-1, testosterone (in males) or estradiol (in females) were measured as a batch at the Endocrinology and Metabolism Research Center (EMRC) of Tehran University of Medical Sciences (TUMS) laboratories before HSCT and 1 and 3 months afterwards...
February 1, 2018: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/29663858/assessment-of-liver-and-cardiac-iron-overload-using-mri-in-patients-with-chronic-anemias-in-latin-american-countries-results-from-asimila-study
#4
Rodolfo Cancado, Nora P Watman, Clarisse Lobo, Zulay Chona, Fernando Manzur, Fabiola Traina, Miriam Park, Guillermo Drelichman, Juan Pablo Zarate, Luis Marfil
OBJECTIVES: A multicenter, noninterventional, observational study was conducted in the Latin American countries including Argentina, Brazil, Colombia, Mexico, and Venezuela to assess the prevalence of liver and cardiac iron overload using magnetic resonance imaging (MRI) in patients with chronic anemias except thalassemia. METHODS: Patients aged >10 years with transfusion-dependent anemias, except thalassemia, either with <20 units of red blood cell (RBC) transfusions with serum ferritin (SF) levels >2000 ng/mL or with ≥20 units of RBC transfusions regardless of SF level in their lifetime, were enrolled...
April 17, 2018: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29663590/use-of-deferasirox-exjade-for-iron-overload-in-peritoneal-dialysis-patients
#5
Erwin Yii, James Cg Doery, Zane Kaplan, Peter G Kerr
BACKGROUND: A 54 year old male with β-Thalassemia major developed ESRD and was managed with continuous ambulatory peritoneal dialysis. Although not able to be transfused due to high titre red cell antibodies he did require management of iron overload. Deferasirox (Exjade) was administered orally. There was concern that excretion of iron via the peritoneal dialysate may raise the risk of iron-dependent infections (Yersinia and Rhizopus). METHODS: Whilst receiving Exjade 1000mg /day, a total collection of 12...
April 16, 2018: Nephrology
https://www.readbyqxmd.com/read/29663494/phylogenetic-analysis-of-htlv-1-in-iranian-blood-donors-hiv-1-positive-patients-and-patients-with-beta-thalassemia
#6
Leila Pirayeshfard, Zohreh Sharifi, Sedigheh Amini-Kafiabad, Nasrin Haghnazari Sadaghiani
BACKGROUND: Human T-cell leukemia virus (HTLV) has been associated with various disease types. Since the discovery of the virus in 1980, seven subtypes of the virus have been identified. HTLV is widespread and endemic in some regions, such as Japan, Africa, South America, and northeast Iran. This study aimed to identify HTLV-1 genotype and also to analyze the nucleotide sequence of the LTR region in three groups, including blood donors, HIV-1+ patients, and β-thalassemia patients. MATERIALS AND METHODS: In this cross-sectional study, 2200 samples were collected from blood donors in Tehran (2000 samples), HIV-1+ patients (100 samples) and β-thalassemia patients (100 samples)...
April 16, 2018: Journal of Medical Virology
https://www.readbyqxmd.com/read/29663188/magnetic-resonance-imaging-during-management-of-patients-with-transfusion-dependent-thalassemia-a-single-center-experience
#7
Zeynep Karakas, Yasin Yilmaz, Zuhal Bayramoglu, Serap Karaman, Selime Aydogdu, Ayse Ozkan Karagenc, Deniz Tugcu, Memduh Dursun
BACKGROUND: Cardiac and hepatic magnetic resonance imaging evaluation during treatment can tailor physicians' chelation therapy titrations. AIM: The aim of the study was to assess the relationship of cardiac and hepatic T2* values with chelation therapy in patients with transfusion-dependent thalassemia (TDT). METHODS: A total of 106 patients with TDT who were followed up in Istanbul Medical Faculty Thalassemia Center were evaluated for the study...
April 16, 2018: La Radiologia Medica
https://www.readbyqxmd.com/read/29662324/clinical-and-molecular-genetic-features-of-hb-h-and-ae-bart-s-diseases-in-central-thai-children
#8
Chanchai Traivaree, Boonchai Boonyawat, Chalinee Monsereenusorn, Piya Rujkijyanont, Apichat Photia
Background: α-Thalassemia, one of the major thalassemia types in Thailand, is caused by either deletion or non-deletional mutation of one or both α-globin genes. Inactivation of three α-globin genes causes hemoglobin H (Hb H) disease, and the combination of Hb H disease with heterozygous hemoglobin E (Hb E) results in AE Bart's disease. Objective: This study aimed to characterize the clinical and hematological manifestations of 76 pediatric patients with Hb H and AE Bart's diseases treated at Phramongkutklao Hospital, a tertiary care center for thalassemia patients in central Thailand...
2018: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29660202/molecular-biomarkers-for-uterine-leiomyosarcoma-and-endometrial-stromal-sarcoma
#9
REVIEW
Hideaki Tsuyoshi, Yoshio Yoshida
Uterine leiomyosarcoma (u{\hyphen}LMS) and endometrial stromal sarcoma (ESS) are among the most frequent soft tissue sarcomas, which, in adults, lead to fatal lung metastases and have an extremely poor prognosis. Due to their rarity and heterogeneity, there are no suitable biomarkers for diagnosis and prognosis, though some biomarker candidates have appeared. Recently, The Cancer Genome Atlas (TCGA) projects dealing with u{\hyphen}LMS confirmed mutations and deletions in RB1, TP53, and PTEN. In addition, whole{\hyphen}exome sequencing of u{\hyphen}LMS has confirmed and demonstrated frequent alterations in TP53, RB1, α-thalassemia/mental retardation syndrome X-linked (ATRX), and mediator complex subunit 12 (MED12)...
April 16, 2018: Cancer Science
https://www.readbyqxmd.com/read/29659464/transitioning-patients-with-iron-overload-from-exjade-to-jadenu
#10
Sara M Tinsley, Christine M Hoehner-Cooper
Iron overload is a concern for patients who require chronic transfusions as a result of inherited or acquired anemias, including sickle cell disease, thalassemia, and myelodysplastic syndromes. Iron chelation therapy (ICT) is the primary treatment for iron overload in these patients. The ICT deferasirox, which has been available as an oral dispersible tablet for liquid suspension, is now also available as a once-daily, film-coated tablet (FCT). Deferasirox FCT allows greater convenience and may be associated with fewer gastrointestinal side effects versus the original formulation...
May 2018: Journal of Infusion Nursing: the Official Publication of the Infusion Nurses Society
https://www.readbyqxmd.com/read/29656499/matrix-assisted-laser-desorption-ionization-time-of-flight-mass-spectrometry-analysis-of-36-blood-group-alleles-among-396-thai-samples-reveals-region-specific-variants
#11
Philaiphon Jongruamklang, Christoph Gassner, Stefan Meyer, Aksarakorn Kummasook, Marion Darlison, Chayanun Boonlum, Surin Chanta, Beat M Frey, Martin L Olsson, Jill R Storry
BACKGROUND: Blood group phenotype variation has been attributed to potential resistance to pathogen invasion. Variation was mapped in blood donors from Lampang (northern region) and Saraburi (central region), Thailand, where malaria is endemic. The previously unknown blood group allele profiles were characterized and the data were correlated with phenotypes. The high incidence of the Vel-negative phenotype previously reported in Thais was investigated. STUDY DESIGN AND METHODS: DNA from 396 blood donors was analyzed by matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry...
April 15, 2018: Transfusion
https://www.readbyqxmd.com/read/29653206/late-effects-screening-guidelines-after-hematopoietic-cell-transplantation-hct-for-hemoglobinopathy-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international-conference-on-late-effects-after-pediatric-hct
#12
Shalini Shenoy, Javid Gaziev, Emanuele Angelucci, Allison King, Monica Bhatia, Angela Smith, Dorine Bresters, Anne E Haight, Christine N Duncan, Josu de la Fuente, Andrew C Dietz, K Scott Baker, Michael A Pulsipher, Mark C Walters
Allogeneic hematopoietic cell transplantation (HCT) can halt organ damage and eliminate symptoms in hemoglobin disorders, including sickle cell disease (SCD) and thalassemia major (TM). Managing the residual manifestations of pre-HCT disease complications and the long-term effects of HCT requires systematic monitoring, follow-up, and intervention when indicated. Late complications vary with age and disease status at HCT, and with transplant variables such as preparative regimen, donor source and compatibility, and immune reconstitution...
April 10, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29653202/clinicopathological-feature-and-outcome-of-pythiosis
#13
Maria Nina Chitasombat, Noppadol Larbcharoensub, Ariya Chindamporn, Theerapong Krajaejun
OBJECTIVES: Vascular pythiosis is a life-threatening infection, caused by Pythium insidiosum. We presented the clinical presentation, serodiagnosis, pathology, and outcome from our institution. METHODS: We retrospectively analyzed patients with proven vascular pythiosis at Ramathibodi Hospital, Mahidol University, Bangkok, Thailand from January 2006 to December 2016. RESULTS: Thirteen patients were analyzed, eight thalassemias. Five had aplastic anemia, myelodysplasia, acute leukemia, cirrhosis, and alcoholism...
April 10, 2018: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/29651865/compound-heterozygosity-for-hb-alperton-hbb-c-407c-t-and-ivs-i-5-g-c-hbb-c-92-5g-c-mutations-presenting-as-a-moderate-anemia-in-an-indian-family
#14
Koumudi G Godbole, Angelina Ramachandran, Ashwini S Karkamkar, Ashwin B Dalal
While knowledge of HBB gene mutations is necessary for offering prenatal diagnosis (PND) of β-thalassemia (β-thal), a genotype-phenotype correlation may not always be available for rare variants. We present for the first time, genotype-phenotype correlation for a compound heterozygous status with IVS-I-5 (G>C) (HBB: c.92+5G>C) and HBB: c.407C>T (Hb Alperton) mutations on the HBB gene in an Indian family. Hb Alperton is a very rare hemoglobin (Hb) variant with scant published information about its clinical presentation, especially when accompanied with another HBB gene mutation...
April 13, 2018: Hemoglobin
https://www.readbyqxmd.com/read/29651217/coinheritance-of-sicilian-%C3%AE-%C3%AE-0-thalassemia-and-two-rare-hemoglobin-variants-a-complex-case-of-hemoglobinopathy
#15
Hajar Eftekhari, Maryam Pilehchian Langroudi, Ali Banihashemi, Mandana Azizi, Reza Youssefi Kamangar, Haleh Akhavan-Niaki
α-Thalassemia (α-thal) is considered as the most common inherited hemoglobin disorder worldwide. The present study describes the first observation of a combination of rare α-chain variants, and β-globin gene cluster deletion. A 21-year-old woman with thalassemia trait, marked microcytosis, mild anemia, and normal range of Hb F was referred to Amirkola genetic center in the North of Iran for routine molecular test of thalassemia in the context of carrier detection and prevention of thalassemia major birth...
April 2018: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/29649618/preimplantation-high-resolution-hla-sequencing-using-next-generation-sequencing
#16
Maryam Rafati, Mohammad Mahdi Akhondi, Mohammad Reza Sadeghi, Seyedeh Zahra Tara, Saeed Reza Ghaffari
Hematopoietic Stem Cell Transplantation (HSCT) is the only therapeutic option in a number of heritable hematologic disorders as well as hematologic cancers. Many parents and families fail to find an HLA-identical donor for their affected family member. In such cases, conceiving for a savior baby remains the only option especially in countries without access to national registries. By means of Next Generation Sequencing (NGS) techniques, in a single experiment on single cell products of IVF, a healthy HLA-identical embryo can be implanted in the uterus of a concerned mother...
April 9, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29629992/management-of-children-with-%C3%AE-thalassemia-intermedia-overview-recent-advances-and-treatment-challenges
#17
Amira A Adly, Eman A Ismail
Our knowledge of the various clinical morbidities that thalassemia intermedia (TI) patients endure has substantially increased over the past decade. It is mandatory to grasp a solid understanding of disease-specific complications in order to tailor management. The optimal course of management for TI patients has been hard to identify, and several controversies remain with regard to the best treatment plan. Although advances in TI are moving at a fast pace, many complications remain with no treatment guidelines...
April 7, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29629042/depression-anxiety-and-perceived-social-support-among-adults-with-beta-thalassemia-major-cross-sectional-study
#18
Aghbabak Maheri, Roya Sadeghi, Davoud Shojaeizadeh, Azar Tol, Mehdi Yaseri, Alireza Rohban
Background: Considering the high prevalence of depression and anxiety among thalassemia patients and the role of social support in preventing mental disorders, this study aimed to determine prevalence of depression, anxiety, and perceived social support (PSS) among adults with beta-thalassemia major. Methods: This cross-sectional study was performed with 389 adults with beta-thalassemia major. Data were collected via a questionnaire consisting of three parts: demographic and medical information, the Persian version of the hospital anxiety and depression scale, and the Persian version of the Multidimensional Scale of Perceived Social Support...
March 2018: Korean Journal of Family Medicine
https://www.readbyqxmd.com/read/29627922/genetics-of-iranian-alpha-thalassemia-patients-a-comprehensive-original-study
#19
Bijan Keikhaei, Pejman Slehi-Fard, Gholamreza Shariati, Abbas Khosravi
Alpha thalassemia is the most prevalent monogenic gene disorder in the world, especially in Mediterranean countries. In the current hematological phenotype of patients with different genotypes, the effects of missense mutations on the protein function and also stability were evaluated in a large cohort study. A total of 1,560 subjects were enrolled in the study and divided into two groups: 259 normal subjects; and 1301 alpha-thalassemia carriers. Genomic DNA was extracted and analyzed using ARMS PCR, Multiplex Gap, and direct sequencing...
April 7, 2018: Biochemical Genetics
https://www.readbyqxmd.com/read/29626925/genetic-and-epigenetic-mechanisms-of-%C3%AE-globin-gene-switching
#20
REVIEW
O V Iarovaia, A P Kovina, N V Petrova, S V Razin, E S Ioudinkova, Y S Vassetzky, S V Ulianov
Vertebrates have multiple forms of hemoglobin that differ in the composition of their polypeptide chains. During ontogenesis, the composition of these subunits changes. Genes encoding different α- and β-polypeptide chains are located in two multigene clusters on different chromosomes. Each cluster contains several genes that are expressed at different stages of ontogenesis. The phenomenon of stage-specific transcription of globin genes is referred to as globin gene switching. Mechanisms of expression switching, stage-specific activation, and repression of transcription of α- and β-globin genes are of interest from both theoretical and practical points of view...
April 2018: Biochemistry. Biokhimii︠a︡
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