Results 71 to 80 of about 78,171 (294)

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

Barriers to Pediatric Sickle Cell Disease Guideline Recommendations. [PDF]

open access: yes, 2019
National guidelines recommend that providers counsel all patients with sickle cell anemia about hydroxyurea (HU) therapy and screen children with sickle cell anemia annually for the risk of stroke with transcranial Doppler (TCD).
Bardach, Naomi S   +6 more
core  

Biomedical Research, A Tool to Address the Health Issues that Affect African Populations. [PDF]

open access: yes, 2013
Traditionally, biomedical research endeavors in low to middle resources countries have focused on communicable diseases. However, data collected over the past 20 years by the World Health Organization (WHO) show a significant increase in the number of ...
Peprah, Emmanuel, Wonkam, Ambroise
core   +3 more sources

Hipertensão arterial pulmonar associada à anemia falciforme Sickle cell anemia-associated pulmonary arterial hypertension

open access: yesJornal Brasileiro de Pneumologia, 2007
A hipertensão pulmonar é uma complicação comum em pacientes com anemia falciforme. A despeito das elevações leves das pressões pulmonares desses pacientes, a morbimortalidade é alta e, em pacientes adultos com anemia falciforme, a hipertensão pulmonar é ...
Roberto Ferreira Pinto Machado
doaj   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear   +7 more
wiley   +1 more source

Sickle cell disease status among school adolescents and their tribal community in South Gujarat [PDF]

open access: yes, 2009
Objectives: to create awareness, to screen samples of school adolescents and then to reach their community through them by doing surveillance for sickle cell disease. Design: Field based cross-sectional study. Settings: St Xavier`s high school and Vanraj
Chudasama, Rajesh K   +3 more
core   +1 more source

Genetics education in public health : a case study on sickle cell anaemia in Brazil [PDF]

open access: yes, 2005
A anemia falciforme é a doença genética de maior prevalência na população brasileira e comumente apontada como uma questão de saúde pública. O Brasil tem investido na elaboração de ações no campo da anemia falciforme, dentre as quais se encontram ações ...
Diniz, Debora   +2 more
core   +1 more source

Thrombomodulin Protects Against Cell-Free Hemoglobin Mediated Acute Kidney Injury in Sickle Cell Anemia [PDF]

open access: bronze, 2023
Guohui Ren   +6 more
openalex   +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

Microalbuminuria as Predictor of Early Glomerular Injury in Children and Adolescents with Sickle Cell Anaemia at Muhimbili National Hospital Dar es Salaam, Tanzania 2012 [PDF]

open access: yes, 2012
Microalbuminuria (MA) is the earliest marker of various diseases affecting the renal system. Its relevance in children and adolescents with sickle cell anaemia (SCA), who are known to be prone to renal complications, has not been fully explored in our ...
Christopher, Richard
core  

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