Results 111 to 120 of about 107,712 (298)

Effectiveness of hydroxyurea (hydroxycarbamide) in a national sickle cell disease programme in Ghana

open access: yesBritish Journal of Haematology, EarlyView.
A real‐world hydroxyurea (hydroxycarbamide; HU) implementation programme in Ghana demonstrated the population‐level effectiveness of HU in improving haematological parameters and patient‐reported outcomes among both paediatric and adult individuals with sickle cell disease.
Duah Dwomoh   +10 more
wiley   +1 more source

Thalassemia—Hemoglobin C Disease [PDF]

open access: bronze, 1954
Wolf W. Zuelzer, Eugene Kaplan
openalex   +1 more source

CRISPR Technology in Disease Management: An Updated Review of Clinical Translation and Therapeutic Potential

open access: yesCell Proliferation, EarlyView.
CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far   +4 more
wiley   +1 more source

Diagnosis and treatment of occipital brain lesions in children

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini   +4 more
wiley   +1 more source

Asymtomatic essential thrombocythemia in a child: a rare case report

open access: yesInternational Journal of Hematology-Oncology and Stem Cell Research, 2013
Essential thrombocythemia is a rare myeloproliferative disorder in pediatrics. This myeloproliferative disorder is charactherized by thrombocytosis and hyperplasia of megakaryocytes in the bone marrow. Other cell lines are not involved.JAK2V617Fmutations
Majid Vafaie   +4 more
doaj  

Interaction of TFAP2A with the Ku70/80 complex is crucial for HIF‐dependent activation of hypoxia‐inducible genes

open access: yesThe FEBS Journal, EarlyView.
Under normoxic conditions, the SUMOylated fraction of TFAP2A cannot interact with the Ku70/Ku80 complex, nor it can bind to chromatin. The unSUMOylated fraction pre‐occupies the chromatin of a subset of hypoxia‐induced genes together with the Ku70/Ku80 complex for basal euchromatin formation. Under hypoxic conditions, the SUMOylation equilibrium shifts
Amalia Kanoura   +8 more
wiley   +1 more source

P1506: REAL-WORLD DATA ON THE USE OF LUSPATERCEPT IN GREEK PATIENTS WITH TRANSFUSION DEPENDENT THALASSEMIA

open access: yesHemaSphere, 2022
P. Delaporta   +13 more
doaj   +1 more source

Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care

open access: yesInternational Journal of Laboratory Hematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley   +1 more source

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