Results 41 to 50 of about 28,606 (278)
EVOLUTION OF HEMOGLOBINOPATHY PREVENTION IN AFRICA
Hemoglobinopathies are a group of inherited hemoglobin disorders. Initially described in the subtropical regions, they are now spread all around the world because of migration.
Slaheddine Fattoum
doaj +1 more source
Saudi SCD patients’ symptoms and quality of life relative to the number of ED visits [PDF]
Background Individuals living with sickle cell disease (SCD) have significantly increased emergency department (ED) use compared to the general population. In Saudi Arabia, health care is free for all individuals and therefore has no bearing on increased
Ahmed, Anwar E. +6 more
core +2 more sources
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear +6 more
wiley +1 more source
Hemoglobinopathy SD presenting as Hemoglobinopathy SS
This case report shows the interaction of hemoglobin (Hb) S with Hb D. in a child previously diagnosed with sickle cell anemia based on the Hb electrophoretic migration pattern in alkaline pH. The sickling phenomenon was confirmed with 2% sodium metabisulfite.
Sonia Maria Lissa +4 more
openaire +3 more sources
Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman +6 more
wiley +1 more source
PNAEQ - 13 years of post-analytical EQAS in Portugal [PDF]
In the last 13 years, PNAEQ provided a specific program on post-analytical phase. In order to raise the offer of schemes in areas like Thrombosis/ Haemostasis, PNAEQ has established a consortium with ECAT Foundation distributing two more schemes: Post ...
Cardoso, Ana +4 more
core
Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing
The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa +4 more
wiley +1 more source
Cellulitis Due to Salmonella infantis. [PDF]
Bacteria of the genus Salmonella are highly adapted for the growth in both humans and animals and cause a wide spectrum of disease. The growth of Serotypes S. typhi and S.
Ghorpade, MV +3 more
core
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
Does Sickle Cell Anaemia Have a Relationship With Avascular Pulp Necrosis? A Systematic Review
ABSTRACT This systematic review examined the relationship between sickle cell disease (SCD), an inherited genetic hemoglobinopathy, and avascular pulp necrosis (APN) in intact teeth. A comprehensive search of eight electronic databases was performed up to December 2024.
Elidiane Elias Ribeiro +5 more
wiley +1 more source

