Results 31 to 40 of about 38,874 (189)

Is Hemoglobin Variant Analysis Helpful in the Diagnostic Work-up of Patients Revealing Microcytic Erythrocytosis on Complete Blood Count? [PDF]

open access: yes, 2015
Introduction: Microcytic erythrocytosis is an abnormal CBC (complete blood count) finding that is under-recognized, poorly understood, and consequently under-utilized in patient care. It is characterized by decreased MCV and increased RBC count.
Dulau-Florea, Alina   +3 more
core   +1 more source

Minihepcidins are rationally designed small peptides that mimic hepcidin activity in mice and may be useful for the treatment of iron overload [PDF]

open access: yes, 2011
Iron overload is the hallmark of hereditary hemochromatosis and a complication of iron-loading anemias such as β-thalassemia. Treatment can be burdensome and have significant side effects, and new therapeutic options are needed.
Alan Waring   +16 more
core   +2 more sources

Alpha Thalassemia Disorders

open access: yes, 2012
The thalassaemias, the commonest monogenic diseases, are a family of inherited disorders of haemoglobin synthesis characterised by a reduced output of one or other of the globin chains of adult haemoglobin. They are likely to pose an increasing health problem for many developing countries during the early part of the new millennium (1).
Arica, Vefik, Arica, Secil Gunher
openaire   +3 more sources

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

open access: yesPediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley   +1 more source

Prenatal diagnosis of thalassemia [PDF]

open access: yes, 2008
published_or_final_versio
Chan, V   +3 more
core  

The role of iron in normal and impaired testicular function

open access: yesAndrology, EarlyView.
Abstract Iron plays a critical role in testicular physiology, impacting spermatogenesis, testosterone production, and overall testicular function. Iron homeostasis is maintained through systemic and cellular regulatory mechanisms, including hepcidin‐mediated systemic iron control and the iron‐responsive element/iron regulatory protein (IRE/IRP) system ...
Aileen Harrer   +2 more
wiley   +1 more source

BUSM News and Notes [PDF]

open access: yes, 1993
Monthly newsletter providing updates of interest to the Boston University School of Medicine ...
Boston University School of Medicine Office of Informational Services
core  

Positive predictive value of diagnosis coding for hemolytic anemias in the Danish National Patient Register [PDF]

open access: yes, 2016
PURPOSE: The nationwide public health registers in Denmark provide a unique opportunity for evaluation of disease-associated morbidity if the positive predictive values (PPVs) of the primary diagnosis are known.
Frederiksen, Henrik   +3 more
core   +2 more sources

The Ticking Clock: Differential Time‐Dependent Deterioration Between Washed and Thawed Sperm

open access: yesAndrology, EarlyView.
ABSTRACT Background Cryopreservation is widely used in assisted reproductive technologies. While fresh sperm undergoes gradual time‐dependent deterioration, it remains unclear whether thawed sperm exhibits a more accelerated decline. Objectives To directly compare the rate of deterioration in sperm motility, vitality, and DNA fragmentation between ...
Adiel Kahana   +6 more
wiley   +1 more source

Whole Blood Transcriptomic Analysis of Sickle Cell Trait

open access: yesEuropean Journal of Haematology, EarlyView.
ABSTRACT Sickle cell trait (SCT) is the heterozygous carrier state for the HBB missense variant which causes sickle cell disease (SCD). SCT has been associated with increased risk of venous thromboembolism and chronic kidney disease as well as alterations in clinical laboratory parameters. To investigate differential gene expression in SCT, we used RNA
Mari Johnson   +12 more
wiley   +1 more source

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