LIBS as a diagnostic tool in pediatrics beta-thalassemia
Sign Up to like & getrecommendations! Published in 2021 at "Lasers in Medical Science"
DOI: 10.1007/s10103-021-03421-y
Abstract: We would like to add ideas on the recently published article “Using LIBS as a diagnostic tool in pediatrics beta-thalassemia [1].” Alsharnoubi et al. concluded that “LIBS is a safe and efficient tool to detect… read more here.
Keywords: tool pediatrics; libs diagnostic; tool; beta thalassemia ... See more keywords
Socio-religious Prognosticators of Psychosocial Burden of Beta Thalassemia Major
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Religion and Health"
DOI: 10.1007/s10943-020-01069-6
Abstract: The study investigates the socio-religious factors in the propagation of genetically inherited disease of Beta thalassemia. The disorder which reportedly has a significant protraction through repeated cousin marriages results in the social maladjustment of the… read more here.
Keywords: burden beta; socio religious; thalassemia major; beta ... See more keywords
High-resolution melting analysis for prenatal diagnosis of beta-thalassemia in northern Thailand
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Hematology"
DOI: 10.1007/s12185-017-2306-1
Abstract: High-resolution melting (HRM) analysis is a rapid mutation analysis which assesses the pattern of reduction of fluorescence signal after subjecting the amplified PCR product with saturated fluorescence dye to an increasing temperature. We used HRM… read more here.
Keywords: analysis; beta; prenatal diagnosis; beta thalassemia ... See more keywords
Mirror aneurysms of extracranial internal carotid arteries in a patient with beta-thalassemia major
Sign Up to like & getrecommendations! Published in 2020 at "Acta Neurologica Belgica"
DOI: 10.1007/s13760-020-01379-2
Abstract: Beta-thalassemia major is a chronic disorder characterised by severe anemia. This patient with beta-thalassemia major is the first magnetic resonance (MR) angiographic case for symmetric mirror aneurysms of the extracranial internal carotid arteries. For diagnosis… read more here.
Keywords: beta thalassemia; patient beta; mirror aneurysms; thalassemia major ... See more keywords
Platelet Refractoriness during BONE Marrow Transplantation, Comparison in Aplasticanemia and Beta Thalassemia Major Patients.an Experience of Public Sector BMT Unit in Pakistan
Sign Up to like & getrecommendations! Published in 2020 at "Biology of Blood and Marrow Transplantation"
DOI: 10.1016/j.bbmt.2019.12.522
Abstract: Background Bone Marrow Transplantation (BMT) is curative treatment modality for many Hematological and oncological diseases. This treatment is commonly available in developed countries but Lower middle income countries (LMICs) like Pakistan this facility is not… read more here.
Keywords: marrow transplantation; platelet refractoriness; bmt; beta thalassemia ... See more keywords
The relation between mitogen activated protein kinase (MAPK) pathway and different genes expression in patients with beta Thalassemia
Sign Up to like & getrecommendations! Published in 2020 at "Biochemistry and Biophysics Reports"
DOI: 10.1016/j.bbrep.2020.100836
Abstract: Background β-thalassemia is an inherited hemoglobinopathy resulting in quantitative changes in the β-globin chain. Understanding the molecular basis of that disorder requires studying the expression of genes controlling the pathways that affect the erythropoietic homeostasis… read more here.
Keywords: gnai2 dusp5; patients beta; mapk pathway; expression ... See more keywords
"DXA and pQCT derived parameters in Indian children with Beta thalassemia major- a case controlled study".
Sign Up to like & getrecommendations! Published in 2020 at "Bone"
DOI: 10.1016/j.bone.2020.115730
Abstract: Children with beta thalassemia major (BTM) are known to have reduced bone mass which increases incidence of non-traumatic fractures. Few studies have assessed prevalence of fractures and bone health in underprivileged children with BTM. Our… read more here.
Keywords: children beta; children btm; thalassemia major; bone ... See more keywords
Establishment of human iPSC line from patient of Indian ethnicity carrying homozygous CD8/9 (+G) beta thalassemia mutation.
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101772
Abstract: This study shows generation of iPSCs from peripheral blood mononuclear cells (PBMNCs) of a male patient having homozygous CD 8/9 (+G) beta thalassemia (major) mutation. Cells were nucleofected with episomal vectors containing Oct4, Sox2, L-Myc,… read more here.
Keywords: line; beta thalassemia; ipsc line; mutation ... See more keywords
Pattern of complications and burden of disease in patients affected by beta thalassemia major
Sign Up to like & getrecommendations! Published in 2017 at "Current Medical Research and Opinion"
DOI: 10.1080/03007995.2017.1326890
Abstract: Abstract Objectives: Despite the correct application of blood transfusions and chelation treatments, beta thalassemia patients have many complications. Systematic population analyses on types and frequency of these complications are very few. The aim of this… read more here.
Keywords: pattern complications; risk factors; burden disease; patients affected ... See more keywords
Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia.
Sign Up to like & getrecommendations! Published in 2023 at "Hematology"
DOI: 10.1080/16078454.2023.2187155
Abstract: OBJECTIVES Clinical manifestations of patients with Hemoglobin E/beta-thalassemia vary from mild to severe phenotypes despite exhibiting the same genotype. Studies have partially identified genetic modifiers. We aimed to study the association between rare variants in… read more here.
Keywords: hemoglobin beta; thalassemia; genetic modifiers; beta thalassemia ... See more keywords
A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood.
Sign Up to like & getrecommendations! Published in 2017 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2016.0411
Abstract: AIMS Thalassemia is a dangerous hematolytic genetic disease. In south China, ∼24% Chinese carry alpha-thalassemia or beta-thalassemia gene mutations. Given the fact that the invasive sampling procedures can only be performed by professionals in experienced… read more here.
Keywords: prenatal diagnosis; beta thalassemia; alpha; thalassemia ... See more keywords