Results 51 to 60 of about 24,308 (321)

Comparison of biochemical parameters of prevalent hemoglobinopathies with healthy individuals

open access: yesMedicine 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

Recent progress in laboratory diagnosis of thalassemia and hemoglobinopathy: a study by the Korean Red Blood Cell Disorder Working Party of the Korean Society of Hematology

open access: yesBlood Research, 2019
Genetic hemoglobin disorders are caused by mutations and/or deletions in the α-globin or β-globin genes. Thalassemia is caused by quantitative defects and hemoglobinopathies by structural defect of hemoglobin.
Young Kyung Lee   +7 more
semanticscholar   +1 more source

Metastatic SMARCB1-Deficient Renal Medullary Carcinoma without Hemoglobinopathy with Durable and Dramatic Response to Pembrolizumab plus Lenvatinib: Case Report

open access: yesCase Reports in Oncology
Introduction: Renal medullary carcinoma (RMC) is a rare form of renal cell carcinoma (RCC) that is typically associated with a loss of function in SMARCB1 and diagnosis of sickle cell or other hemoglobinopathy.
William McCamy   +4 more
doaj   +1 more source

Prognostic significance of mutated genes in megakaryocytic disorders

open access: yesOncology Reviews, 2019
Megakaryopoiesis is a process during which platelets that play a major role in hemostasis are produced due to differentiation and maturation of megakaryocytic precursors.
Ali Amin Asnafi   +4 more
doaj   +1 more source

Bromhexine is a potential drug for COVID-19; From hypothesis to clinical trials

open access: yesВопросы вирусологии, 2022
COVID-19 (novel coronavirus disease 2019), caused by the SARS-CoV-2 virus, has various clinical manifestations and several pathogenic pathways. Although several therapeutic options have been used to control COVID-19, none of these medications have been ...
S. Bahadoram   +6 more
doaj   +1 more source

Modification and Assessment of the Bedside Pediatric Early Warning Score in the Pediatric Allogeneic Hematopoietic Cell Transplant Population [PDF]

open access: yes, 2018
OBJECTIVES: To determine the validity of the Bedside Pediatric Early Warning Score system in the hematopoietic cell transplant population, and to determine if the addition of weight gain further strengthens the association with need for PICU admission.
Cater, Daniel T.   +3 more
core   +1 more source

Hemoglobin Variant (Hemoglobin Aalborg) Mimicking Interstitial Pulmonary Disease

open access: yesPulmonary Medicine, 2014
Hemoglobin Aalborg is a moderately unstable hemoglobin variant with no affiliation to serious hematological abnormality or major clinical symptoms under normal circumstances.
Vasiliki Panou   +4 more
doaj   +1 more source

Resultados do estudo do Doppler transcraniano em crianças e adolescentes portadores de doença falciforme e correlação entre a velocidade média máxima e características hematológicas: um estudo transversal analítico [PDF]

open access: yes, 2011
CONTEXT AND OBJECTIVE: Transcranial Doppler (TCD) detects stroke risk among children with sickle cell anemia (SCA). Our aim was to evaluate TCD findings in patients with different sickle cell disease (SCD) genotypes and correlate the time-averaged ...
Braga, Josefina Aparecida Pellegrini   +3 more
core   +2 more sources

Single‐Position Peptide Clustering for Peptidomics Reveals Novel Disease Biomarkers and Dysregulated Proteolytic Characteristics

open access: yesAdvanced Science, EarlyView.
A novel amino acid (aa)‐score‐based single‐position peptide clustering strategy is developed for peptidomics, enabling precise profiling of protein proteolysis in plasma from β‐thalassemia cohort. The method identifies new aa position‐based peptide cluster biomarkers validated by heavy‐labeled peptides, visualizes aggregated changes, uncovers disease ...
Na Li   +13 more
wiley   +1 more source

A Nonhuman Primate Transplantation Model to Evaluate Hematopoietic Stem Cell Gene Editing Strategies for β-Hemoglobinopathies

open access: yesMolecular 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

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