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Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco.
Int J Neonatal Screen
December 2024
Laboratory of Genomic, Epigenetics, Precision and Predictive Medicine, School of Medicine, Mohammed VI University of Sciences and Health, Casablanca 82403, Morocco.
Unlabelled: Newborn screening (NBS) represents an important public health measure for the early detection of specified disorders; such screening can prevent disability and death, not only from metabolic disorders but also from endocrine, hematologic, immune, and cardiac disorders. Screening for critical congenital conditions affecting newborns' health is a great challenge, especially in developing countries such as Morocco, where NBS program infrastructure is lacking. In addition, the consanguinity rate is high in Morocco.
View Article and Find Full Text PDFPrevalence of dental caries, oral health status, malocclusion status, and dental treatment needs in thalassemic children: A cross-sectional study.
J Family Med Prim Care
November 2024
Department of Oral Medicine, Diagnosis and Radiology, Yogita Dental College and Hospital, Khed, Ratnagiri, Maharashtra, India.
Background: Thalassemia is a hemoglobinopathy-associated genetic disease resulting due to defective synthesis of globin chains, causing defects in the skeletal and oral structures.
Aim: This cross-sectional study was designed to analyze the prevalence of dental caries, oral health status, malocclusion status, and dental treatment needs in thalassemic children.
Materials And Methods: Institutional Ethical committee clearance was obtained before starting the study.
Living with sickle cell in Uganda: A comprehensive perspective on challenges, coping strategies, and health interventions.
Medicine (Baltimore)
December 2024
School of Nursing Science, Kampala International University, Ishaka, Uganda.
Sickle cell anemia (SCA) is a hereditary blood disorder with profound implications for affected individuals, particularly in resource-limited settings such as Uganda. This review explores the multifaceted aspects of SCA in Uganda, focusing on epidemiology, challenges faced by individuals, coping strategies, healthcare disparities, and community support. The study incorporates a thorough examination of the genetic landscape, prevalence, and the impact of SCA on the quality of life in Uganda.
View Article and Find Full Text PDFSickle Trait and Alpha Thalassemia Increase NOS-Dependent Vasodilation of Human Arteries Through Disruption of Endothelial Hemoglobin-eNOS Interactions.
Circulation
January 2025
Physiology Unit, Laboratory of Malaria and Vector Research (S.D.B., A.P.R., X.Z., M.A.H., L.A.R., R.L.S., M.J., J.N.d.R., A.J.M., J.M.J., R.O.E., N.T., K.L., H.C.A.), National Institute of Allergy and Infectious Diseases, Rockville, MD.
Background: Severe malaria is associated with impaired nitric oxide (NO) synthase (NOS)-dependent vasodilation, and reversal of this deficit improves survival in murine models. Malaria might have selected for genetic polymorphisms that increase endothelial NO signaling and now contribute to heterogeneity in vascular function among humans. One protein potentially selected for is alpha globin, which, in mouse models, interacts with endothelial NOS (eNOS) to negatively regulate NO signaling.
View Article and Find Full Text PDFContextualizing prophylactic red blood cell antigen matching in the lifelong care of sickle cell disease and thalassaemia patients.
Br J Haematol
December 2024
Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Alloimmunization to minor red blood cell antigens has been linked to patient morbidity and mortality, especially among people living with sickle cell disease and transfusion-dependent thalassaemia. Prophylactic antigen matching is commonly used to prevent alloimmunization, but the evidence supporting this common practice is very limited. The report by Wolf et al.
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