Results 51 to 60 of about 11,475 (240)
Sickle cell disease status among school adolescents and their tribal community in South Gujarat [PDF]
, 2009 Objectives: to create awareness, to screen samples of school adolescents and then to reach their community through them by doing surveillance for sickle cell disease. Design: Field based cross-sectional study. Settings: St Xavier`s high school and Vanraj
Chudasama, Rajesh K +3 more
core +1 more source
British Journal of Haematology, EarlyView.Prospective functional MRI brain and neurocognitive assessments were performed serially during intensive chemotherapy for a cohort of adults with newly diagnosed acute myeloid leukaemia to elucidate ‘chemobrain’ language phenomena. At completion of consolidation, significant reductions in functional and microstructural connectivity were observed ...
Ashleigh P. Scott +17 more
wiley +1 more source
Comparison of biochemical parameters of prevalent hemoglobinopathies with healthy individuals
Medicine Science, 2020 Thalassemia is the most frequently seen monogenetic disorders around the world that is inherited as a recessive single-gene disease, resulting from mutations in α-or β-globin gene clusters.
Emrah Yerlikaya +2 more
doaj +1 more source
Impact of N-myc amplification on median survival in children with neuroblastoma [PDF]
, 2012 Background: Neuroblastoma is the most common extracranial malignant solid tumor in children under 5 years, and it is characterized by wide clinical and biological heterogeneity.
Brodeur GM +10 more
core +2 more sources
, 2021 Hereditary hemoglobin disorders with thalassemia and sickle-cell anemia are the most common monogenic diseases in the world. It is estimated that about 1-5% of the global population is the carriers of a genetic thalassemia mutation. Hemoglobinopathies are among the most common hereditary blood diseases also in Turkey and are an important health problem
Arpacı, Abdullah +2 more
openaire +1 more source
British Journal of Haematology, EarlyView.Summary Omics technologies have transformed research in haemoglobinopathies, yet the proteome of RBCs remains largely unexplored in transfusion‐dependent thalassaemia (TDT). In this proteomic analysis, Red blood cell (RBC) membranes from 48 adults with TDT were compared with healthy controls.
Konstantina Theocharaki +8 more
wiley +1 more source
A novel, nondestructive, dried blood spot-based hematocrit prediction method using noncontact diffuse reflectance spectroscopy [PDF]
, 2016 Dried blood spot (DBS) sampling is recognized as a valuable alternative sampling strategy both in research and in clinical routine. Although many advantages are associated with DBS sampling, its more widespread use is hampered by several issues, of which
Aalders, Maurice CG +3 more
core +4 more sources
British Journal of Haematology, EarlyView.Summary Individuals with sickle cell anaemia (SCA) exhibit significant clinical heterogeneity influenced by several factors, especially fetal haemoglobin (HbF) levels. Variations in adult HbF levels are partly explained by the co‐inheritance of genetic variants that regulate globin expression.
Gabriela S. Arcanjo +13 more
wiley +1 more source
Molecular Therapy: Methods & Clinical Development, 2018 Reactivation of fetal hemoglobin (HbF) is a promising approach for the treatment of β-hemoglobinopathies and the targeting of genes involved in HbF regulation is under intensive investigation. Here, we established a nonhuman primate (NHP) transplantation
Olivier Humbert +4 more
doaj +1 more source
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. [PDF]
, 1996 Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia.
Andersson, Stefan +14 more
core +1 more source