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Alpha thalassemia

Santosh L Saraf, Binal N Shah, Xu Zhang, Jin Han, Bamidele O Tayo, Taimur Abbasi, Adam Ostrower, Elizabeth Guzman, Robert E Molokie, Michel Gowhari, Johara Hassan, Shivi Jain, Richard S Cooper, Roberto F Machado, James P Lash, Victor R Gordeuk
No abstract text is available yet for this article.
September 22, 2016: Haematologica
Johann-Martin Hempel, Sotirios Bisdas, Jens Schittenhelm, Cornelia Brendle, Benjamin Bender, Henk Wassmann, Marco Skardelly, Ghazaleh Tabatabai, Salvador Castaneda Vega, Ulrike Ernemann, Uwe Klose
The purpose of this study is to assess the diagnostic performance of diffusion kurtosis imaging (DKI) for in vivo molecular profiling of human glioma. Normalized mean kurtosis (MKn) and mean diffusivity (MDn) metrics from DKI were assessed in 50 patients with histopathologically confirmed glioma. The results were compared in regard to the WHO-based histological findings and molecular characteristics leading to integrated diagnosis (Haarlem Consensus): isocitrate-dehydrogenase (IDH1/2) mutation status, alpha-thalassemia/mental retardation syndrome X-linked (ATRX) expression, chromosome 1p/19q loss of heterozygosity (LOH), and O6-methylguanine DNA methyltransferase (MGMT) promoter methylation status...
September 7, 2016: Journal of Neuro-oncology
Pamela S Lagali, Chantal F Medina, Brandon Y H Zhao, Keqin Yan, Adam N Baker, Stuart G Coupland, Catherine Tsilfidis, Valerie A Wallace, David J Picketts
ATRX is a chromatin remodeling protein that is mutated in several intellectual disability disorders including alpha-thalassemia/mental retardation, X-linked (ATR-X) syndrome. We previously reported the prevalence of ophthalmological defects in ATR-X syndrome patients, and accordingly we find morphological and functional visual abnormalities in a mouse model harbouring a mutation occurring in ATR-X patients. The visual system abnormalities observed in these mice parallels the Atrx-null retinal phenotype characterized by interneuron defects and selective loss of amacrine and horizontal cells...
September 4, 2016: Human Molecular Genetics
Yang Hu, Guang Shi, Laichen Zhang, Feng Li, Yuanling Jiang, Shuai Jiang, Wenbin Ma, Yong Zhao, Zhou Songyang, Junjiu Huang
Activation of telomerase or alternative lengthening of telomeres (ALT) is necessary for tumours to escape from dysfunctional telomere-mediated senescence. Anti-telomerase drugs might be effective in suppressing tumour growth in approximately 85-90% of telomerase-positive cancer cells. However, there are still chances for these cells to bypass drug treatment after switching to the ALT mechanism to maintain their telomere integrity. But the mechanism underlying this switch is unknown. In this study, we used telomerase-positive cancer cells (HTC75) to discover the mechanism of the telomerase-ALT switch by inducing telomere-specific DNA damage, alpha-thalassemia X-linked syndrome protein (ATRX) knockdown and deletion of death associated protein (DAXX)...
2016: Scientific Reports
Nongnuch Sirachainan, Ampaiwan Chuansumrit, Praguywan Kadegasem, Werasak Sasanakul, Pakawan Wongwerawattanakoon, Lalita Mahaklan
Thalassemia intermedia (TI), a non-transfusion dependent thalassemia, is divided into α-thalassemia, such as HbH disease, and β-thalassemia diseases, such as HbE/β(+) thromboembolism (TE) in TI has been mostly reported in β-thalassemia diseases with incidence rates of 3.9-29%. The present study enrolled 60 patients with α-thalassemia intermedia. The control groups were thalassemia major (TM) consisting of 17 patients diagnosed with β-thalassemia diseases, 24 patients diagnosed with splenectomized β-thalassemia diseases and 25 normal subjects...
October 2016: Thrombosis Research
Yi-Hao Weng, Ya-Wen Chiu, Shao-Wen Cheng, Chun-Yuh Yang
BACKGROUND: Hyperbilirubinemia is a common disorder during neonatal period in Taiwan. Gene variants may play an important role in the development of neonatal hyperbilirubinemia. The current study investigated the association between neonatal hyperbilirubinemia and common gene variants involving the production and metabolism of bilirubin. METHODS: This prospective study enrolled 444 healthy infants born in the Chang Gung Memorial Hospital at Taipei from 2013-2015...
2016: BMC Pediatrics
Paulo do Val Rezende, Kenia da Silva Costa, Jose Carlos Domingues Junior, Paula Barezani Silveira, André Rolim Belisário, Celia Maria Silva, Marcos Borato Viana
INTRODUCTION: The hemoglobin FSD is very uncommon in newborn screening programs for sickle cell disease. In the program of Minas Gerais, Brazil, the clinical course of children with hemoglobin SD was observed to be heterogeneous. The objective of this study was to estimate the incidence (1999-2012) and to describe the natural history of a cohort of newborns with hemoglobin SD. METHODS: Isoelectric focusing was the primary method used in newborn screening. Polymerase chain reaction-restriction fragment length polymorphism and gene sequencing were used to identify mutant alleles and for haplotyping...
July 2016: Revista Brasileira de Hematologia e Hemoterapia
Pathrapol Lithanatudom, Duncan R Smith
A number of studies have used global protein profiling technologies on a range of patient samples to detect proteins that are differentially expressed in β-thalassemia/Hb E as an aid to understanding the physiopathology of this disease. Seven studies have identified a total of 111 unique, differentially expressed proteins. Seven proteins (prothrombin, alpha-1-antichymotrypsin, fibrinogen beta chain, hemoglobin beta, selenium-binding protein, microtubule-actin cross-linking factor and adenomatous polyposis coli protein 2) have been identified in two independent studies, while two proteins (carbonic anhydrase 1 and peroxiredoxin-2) have been identified in three independent studies...
August 11, 2016: Proteomics. Clinical Applications
B M Warpe, A V Shrikhande, S V Poflee
BACKGROUND: Until now, trimodal distribution of HbS has been seen by six different studies in the world when associated with alpha-thalassemia with confirmation by corresponding alpha-genotyping studies. The RBC indices reduce as alpha-globin genes reduce in sickle cell trait (SCT) patients, which decreases the extent of intra-vascular sickling and thus betters the clinical course of the patients. This is a pioneer study conducted on Central Indian poor population to use the already proven six studies to screen associated alpha-thalassemia in SCT patients thus, circumventing the much costlier alpha-genotyping studies...
2016: Iranian Journal of Pathology
Ajay Chaurasia, Sung-Hye Park, Jeong-Wook Seo, Chul-Kee Park
Glioblastoma (GBM) can be classified into molecular subgroups, on the basis of biomarker expression. Here, we classified our cohort of 163 adult GBMs into molecular subgroups according to the expression of proteins encoded by genes of alpha thalassemia/mental retardation syndrome X-linked (ATRX), isocitrate dehydrogenase (IDH) and TP53. We focused on the survival rate of molecular subgroups, depending on each and various combination of these biomarkers. ATRX, IDH1 and p53 protein expression were evaluated immunohistochemically and Kaplan-Meier analysis were carried out in each group...
August 2016: Journal of Korean Medical Science
Norman L Lehman, Eyas M Hattab, Bret C Mobley, Aisulu Usubalieva, Matthew J Schniederjan, Roger E McLendon, Werner Paulus, Elisabeth J Rushing, Maria-Magdalena Georgescu, Marta Couce, Mohanpal S Dulai, Mark L Cohen, Christopher R Pierson, Jack M Raisanen, Sarah E Martin, Trang D Lehman, Eric S Lipp, Jose M Bonnin, Mousa A Al-Abbadi, Kara Kenworthy, Kevin Zhao, Nehad Mohamed, Guojuan Zhang, Weiqiang Zhao
BACKGROUND: Astroblastomas (ABs) are rare glial tumors showing overlapping features with astrocytomas, ependymomas, and sometimes other glial neoplasms, and may be challenging to diagnose. METHODS: We examined clinical, histopathological, and molecular features in 28 archival formalin-fixed, paraffin-embedded AB cases and performed survival analyses using Cox proportional hazards and Kaplan-Meier methods. RESULTS: Unlike ependymomas and angiocentric gliomas, ABs demonstrate abundant distinctive astroblastic pseudorosettes and are usually Olig2 immunopositive...
July 14, 2016: Neuro-oncology
Elena D'Alcamo, V Agrigento, L Pitrolo, S Sclafani, R Barone, G Calvaruso, V Buffa, A Maggio
Congenital dyserythropoietic anemia type I is an autosomal recessive disorder associated with macrocytic anemia, ineffective erythropoiesis, iron overloading and characterized by abnormal chromatin ultrastructure in erythroblasts such as internuclear chromatin bridges, spongy heterochromatin and invagination of the nuclear membrane. A 58-year-old Causasian man with chronic hemolytic anemia, heterozygous for β (+) -globin IVS1, nt110 G>A mutation (causing abnormal alpha:beta globin chain ratio) showed clinical, laboratory and hematological features suggesting diagnosis of CDA1...
June 2016: Indian Journal of Hematology & Blood Transfusion
Xaver Feichtinger, Roland Kocijan, Heinrich Resch, Christian Muschitz
To date there are few studies that have investigated bone mineral density (BMD) and markers of bone metabolism in patients with thalassemia minor form. None of the previous trials presented bone structure analysis in the patient populations. We present the case of a 24-year-old Turkish woman with heterozygous beta and alpha thalassemia who sustained a low-trauma fracture of the inferior pubic ramus. Despite normal markers of bone metabolism, the dual X‑ray absorptiometry (DXA) showed decreased areal bone mineral density...
June 30, 2016: Wiener Klinische Wochenschrift
E I de-la-Cruz-Salcedo, B Ibarra, L C Rizo-de-la-Torre, J Y Sánchez-López, A González-Mercado, C L Harteveld, F J Perea-Díaz
INTRODUCTION: Alpha-thalassemia (α-thal) is a common monogenic disorder worldwide. In mixed ethnic populations, α-thal and beta-thalassemia (β-thal) can be expected, sometimes giving complex phenotypes, which without molecular analysis are not easily explained. We performed the molecular identification of α- and β-thal alleles in 51 Mexican patients with microcytosis, hypochromia, and normal or low levels of HbA2 . METHODS: Common deletional alleles (-α(3...
October 2016: International Journal of Laboratory Hematology
Carl Koschmann, Pedro R Lowenstein, Maria G Castro
Alpha thalassemia/mental retardation syndrome X-linked (ATRX) is mutated in nearly a third of pediatric glioblastoma (GBM) patients. We developed an animal model of ATRX-deficient GBM. Using this model combined with analysis of multiple human glioma genome-wide datasets, we determined that ATRX mutation leads to genetic instability, impaired non-homologous end joining, and alternate lengthening of telomeres (ALT).
May 2016: Molecular & Cellular Oncology
Daniela O W Rodrigues, Luiz C Ribeiro, Lysla C Sudário, Maria T B Teixeira, Marina L Martins, Anuska M O L Pittella, Irtis de O Fernandes Junior
OBJECTIVE: To verify genetic determinants associated with stroke in children with sickle cell disease (SCD). METHODS: Prospective cohort with 110 children submitted to neonatal screening by the Neonatal Screening Program, between 1998 and 2007, with SCD diagnosis, followed at a regional reference public service for hemoglobinopathies. The analyzed variables were type of hemoglobinopathy, gender, coexistence with alpha thalassemia (α-thal), haplotypes of the beta globin chain cluster, and stroke...
June 4, 2016: Jornal de Pediatria
Humaira Yasmeen, Sarmad Toma, Natalie Killeen, Shahida Hasnain, Letizia Foroni
INTRODUCTION: A multicentre study (including four cities in Pakistan) aimed to investigate the frequency and spectrum of alpha and beta thalassemia genetic mutations and XmnI polymorphism of the Gamma Globin gene. METHODS: One hundred and sixty one beta thalassemia patients, identified on the ground of haematological parameters, were screened for mutations of the Alpha (HBA2 and HBA1) and Beta (HBB) Globin genes as well as Gamma (HBG2) Globin gene, -158 Gγ XmnI polymorphism, using a combination of multiplex GAP polymerase chain reaction (PCR), Sanger sequencing and restriction fragment length polymerase (RFLP) based PCR...
August 2016: European Journal of Medical Genetics
Simonnet Christine, Elanga Narcisse, Joly Philippe, Vaz Tania, Nacher Mathieu
OBJECTIVES: Sickle cell disease (SCD) is the leading genetic disease in French Guiana, reflecting the predominantly African ancestry of the Guianese population. Our purpose was to characterize the genetic modulators of SCD in order to retrace the origin of the population in light of the slave trade. METHODS: We have studied the sickle cell genotype, the βS haplotypes, the alpha and beta thalassemia and the UGT1A1 promoter polymorphisms in 224 Guianese patients with SCD...
June 2, 2016: American Journal of Human Biology: the Official Journal of the Human Biology Council
C Camaschella, A Pagani, A Nai, L Silvestri
BACKGROUND: Iron is essential for hemoglobin synthesis during terminal erythropoiesis. To supply adequate iron the carrier transferrin is required together with transferrin receptor endosomal cycle and normal mitochondrial iron utilization. Iron and iron protein deficiencies result in different types of anemia. Iron-deficiency anemia is the commonest anemia worldwide due to increased requirements, malnutrition, chronic blood losses and malabsorption. Mutations of transferrin, transferrin receptor cycle proteins, enzymes of the first step of heme synthesis and iron sulfur cluster biogenesis lead to rare anemias, usually accompanied by iron overload...
May 2016: International Journal of Laboratory Hematology
Bhola Shankar Pradhan, Subeer S Majumdar
Although rats are preferred over mice as an animal model, transgenic animals are generated predominantly using mouse embryos. There are limitations in the generation of transgenic rat by embryo manipulation. Unlike mouse embryos, most of the rat embryos do not survive after male pronuclear DNA injection which reduces the efficiency of generation of transgenic rat by this method. More importantly, this method requires hundreds of eggs collected by killing several females for insertion of transgene to generate transgenic rat...
2016: Molecular Therapy. Nucleic Acids
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