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Real-world assessment of the patient profile, clinical characteristics, treatment patterns, and outcomes associated with erythropoietic and X-linked protoporphyria.
J Dermatol
January 2025
Mitsubishi Tanabe Pharma America, Inc., Jersey City, New Jersey, USA.
Article Synopsis
- Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare genetic disorders that lack comprehensive management data, prompting a study of their characteristics and treatment in real-world U.S. settings.
- The study reviewed medical records of 299 EPP and 91 XLP patients, revealing a mean diagnosis delay of 2.9 years and highlighting common pre-diagnostic tests and lifestyle recommendations.
- Findings indicated a significant number of healthcare visits post-diagnosis and identified unmet needs, such as the need for quicker diagnoses, effective symptom relief, and better prevention of phototoxic reactions.
Supplemental Iron and Recombinant Erythropoietin for Anemia in Infants Born Very Preterm: A Survey of Clinical Practice in Europe.
J Pediatr
January 2025
Department of Neonatology, Charité - Universitätsmedizin Berlin, Berlin, Germany. Electronic address:
Objectives: To survey practices of iron and recombinant human erythropoietin (rhEpo) administration to infants born preterm across Europe.
Study Design: Over a 3-month period, we conducted an online survey in 597 neonatal intensive care units (NICUs) of 18 European countries treating infants born with a gestational age of <32 weeks.
Results: We included 343 NICUs (response rate 56.
Reticulocyte Antioxidant Enzymes mRNA Levels versus Reticulocyte Maturity Indices in Hereditary Spherocytosis, β-Thalassemia and Sickle Cell Disease.
Int J Mol Sci
February 2024
UCIBIO-Applied Molecular Biosciences Unit, Laboratory of Biochemistry, Department of Biological Sciences, Faculty of Pharmacy, University of Porto, 4051-401 Porto, Portugal.
The antioxidant enzymes superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPx) and peroxiredoxin 2 (Prx2) are particularly important in erythroid cells. Reticulocytes and other erythroid precursors may adapt their biosynthetic mechanisms to cell defects or to changes in the bone marrow environment. Our aim was to perform a comparative study of the mRNA levels of and in reticulocytes from healthy individuals and from patients with hereditary spherocytosis (HS), sickle cell disease (SCD) and β-thalassemia (β-thal), and to study the association between their transcript levels and the reticulocyte maturity indices.
View Article and Find Full Text PDFPharmacodynamic effects of molidustat on erythropoiesis in healthy cats.
J Vet Intern Med
February 2024
Elanco Animal Health, Leverkusen, Germany.
Background: Inhibition of hypoxia-inducible factor prolyl hydroxylase (HIF-PH) stimulates erythropoiesis in rats, dogs, monkeys, and humans.
Hypothesis/objective: Determine if molidustat, a novel HIF-PH inhibitor, stimulates erythropoiesis in healthy cats.
Animals: Seventeen healthy adult laboratory cats.
Comprehensive Characterization and Global Transcriptome Analysis of Human Fetal Liver Terminal Erythropoiesis.
Genomics Proteomics Bioinformatics
December 2023
Laboratory of Membrane Biology, New York Blood Center, New York, NY 10065, USA. Electronic address:
The fetal liver (FL) is the key erythropoietic organ during fetal development, but knowledge on human FL erythropoiesis is very limited. In this study, we sorted primary erythroblasts from FL cells and performed RNA sequencing (RNA-seq) analyses. We found that temporal gene expression patterns reflected changes in function during primary human FL terminal erythropoiesis.
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