Results 41 to 50 of about 28,606 (278)

EVOLUTION OF HEMOGLOBINOPATHY PREVENTION IN AFRICA

open access: yesMediterranean Journal of Hematology and Infectious Diseases, 2009
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]

open access: yes, 2016
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

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

open access: yesPrenatal Diagnosis, EarlyView.
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

open access: yesMedicina (Ribeirão Preto), 2017
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

open access: yesPrenatal Diagnosis, EarlyView.
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]

open access: yes, 2019
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

open access: yesSmall, EarlyView.
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]

open access: yes, 2013
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  

Hemoglobinopathies

open access: yes, 2021
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

open access: yesAustralian Endodontic Journal, EarlyView.
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

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