Results 31 to 40 of about 16,337 (195)

Cerebral Blood Transit in Sickle Cell Anemia

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Background Sickle cell anemia (SCA) patients upregulate cerebral blood flow to compensate for decreased arterial oxygen content. Such hyperemic conditions can manifest as venous hyperintense signal on arterial spin labeling (ASL) MRI, which may reflect faster capillary blood transit, altered oxygen extraction fraction (OEF), and infarct risk ...
Wesley T. Richerson, Megan A. Aumann, Alexander K. Song, Samantha Davis, Lauren Milner, Maria Garza, Dann Martin, L. Taylor Davis, Sumit Pruthi, Lori C. Jordan, Manus J. Donahue   +10 more
wiley   +1 more source

Hemoglobinopathies in Iran: An Updated Review

International Journal of Hematology-Oncology and Stem Cell Research, 2020
Hemoglobinopathies are the most common single gene disorders (monogenic disorders) in the world population.  Due to specific position of Iran and the presence of multi-ethnic groups in the country, there are many varieties in the molecular genetics and ...
Abolfazl Nasiri, Zohreh Rahimi, Asad Vaisi-Raygani   +2 more
doaj   +1 more source

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

Prenatal 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, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Presence of new mutations in the TP53 gene in patients with low-risk myelodysplastic syndrome: two case reports

Journal of Medical Case Reports, 2017
Background Myelodysplastic syndromes are heterogeneous disorders. Patients with myelodysplastic syndrome disease often have ineffective hematopoiesis, cytopenias, blood cell dysplasia in one or more cell types, and are at high risk for developing acute ...
Fernando Barroso Duarte, Romélia Pinheiro Gonçalves Lemes, Talyta Ellen de Jesus dos Santos, Maritza Cavalcante Barbosa, João Paulo Leitão de Vasconcelos, Francisco Dário Rocha-Filho, Ilana Zalcberg, Diego Coutinho, Monalisa Feliciano Figueiredo, Luciana Barros Carlos, Paulo Roberto Leitão de Vasconcelos   +10 more
doaj   +1 more source

Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant, Carlos Robles, Seungwoo Lee, Prakesh S. Shah, Greg Ryan, Elka Miller, Shiri Shinar   +6 more
wiley   +1 more source

Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance

International Journal of Neonatal Screening
Hemoglobinopathies are the commonest monogenic disorder worldwide, with approximately seven percent of the world population being carriers of hemoglobinopathies.
Ryan Jilek, Jennifer Marcy, Carol Johnson, Georgianne Younger, Amy Calhoun, Moon Ley Tung   +5 more
doaj   +1 more source

Mirror Syndrome (Ballantyne Syndrome): Prenatal Diagnosis, Pathophysiology, and the Role of Fetal Therapy—A Narrative Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Mirror syndrome is a rare maternal–fetal condition associated with fetal hydrops and a high risk of adverse maternal and fetal perinatal outcomes. Its diagnosis is challenging due to the lack of standardized diagnostic criteria and its clinical and biochemical overlap with preeclampsia.
Riccardo Tudisco, Pauline Latapie, Anita Romiti, Alexandra Benachi, Maelig Abgral, Alexandre J. Vivanti   +5 more
wiley   +1 more source

Multifactorial Nature of Childhood Stroke Presents a Major Challenge for Diagnosis and Management: A Population‐Based Study From Southern Finland

Acta Paediatrica, EarlyView.
ABSTRACT Aim Childhood ischemic stroke is rare but causes substantial long‐term morbidity, and its heterogeneous aetiology complicates timely diagnosis and management. Methods We conducted a retrospective population‐based observational study using hospital data and chart review to describe diagnostics, treatment and outcomes of ischemic stroke in ...
Jussi V. Leinonen, Samu Kurki, Siina Pamilo, Juho Immonen, Juha Knuuttila, Matti Hero, Mia Westerholm‐Ormio, Pirjo Isohanni, Miika Koskinen   +8 more
wiley   +1 more source

[Hemoglobinopathies in Japan].

[Rinsho ketsueki] The Japanese journal of clinical hematology, 1989
One hundred and thirty one different hemoglobin (Hb) variants and 134 families with thalassemia syndrome were reported during 30 years search for hemoglobinopathy in Japan. Studies on their molecular pathology and gene abnormalities have elucidated the effects of base substitution in the genomic DNA.
openaire   +2 more sources

Prevention of the Hemoglobinopathies

Thalassemia Reports, 2013
The inherited hemoglobin disorders not only cause suffering and unhappiness to the patients but they also absorb a large part of resources and human effort in several countries which harbor the deleterious genes [...]
openaire   +3 more sources