Results 21 to 30 of about 5,240,823 (173)

Alpha‐globin gene triplication and its effect in beta‐thalassemia carrier, sickle cell trait, and healthy individual

eJHaem, 2021
The genotype and phenotype correlation between coinheritance of heterozygous beta‐thalassemia with the alpha‐globin triplication is unclear. In this study we have investigated and reviewed alpha triplication frequency in beta‐thalassemia carriers, sickle
Mohammad Hamid, Bijan keikhaei, Hamid Galehdari, Alihossein Saberi, Alireza Sedaghat, Gholamreza Shariati, Marziye Mohammadi‐Anaei   +6 more
doaj   +1 more source

Sickle Retinopathy in a Person with Hemoglobin S/New York Disease

Case Reports in Genetics, 2012
A patient who presented with sickle retinopathy and hemoglobin electrophoresis results compatible with sickle cell trait was found, on further investigation, to be a compound heterozygote with hemoglobin S and hemoglobin New York disease.
Donovan Calder, Maryse Etienne-Julan, Marc Romana, Naomi Watkins, Jennifer M. Knight-Madden   +4 more
doaj   +1 more source

Liver Cirrhosis in a Patient with Sickle Cell Trait (Hb Sβ+ Thalassemia) without Other Known Causes of Hepatic Disease

Case Reports in Gastroenterology, 2009
Liver involvement in patients with sickle cell anemia/trait includes a wide range of alterations, from mild liver function test abnormalities to cirrhosis and acute liver failure. Approximately 15–30% of patients with sickle cell anemia present cirrhosis
Luca Santi, Giancarlo Montanari, Sonia Berardi, Corrado Patti, Marta Frigerio, Claudia Sama, Paolo Caraceni, Mauro Bernardi   +7 more
doaj   +1 more source

Geographic Modelling of Sickle cell Trait in four US Regions

Journal of the Georgia Public Health Association, 2017
Background: Many studies have been done concerning the prevalence of sickle cell trait, its incidence and screening techniques. It is most commonly observed in the Black and Hispanic population in the United States.
Marian Tabi, Anunay Bhattacharya
doaj   +1 more source

APOL1, Sickle Cell Trait, and CKD in the Jackson Heart StudyPlain-Language Summary

Kidney Medicine, 2021
Rationale & Objective: Apolipoprotein L1 (APOL1) high-risk variants are associated with an increased risk for chronic kidney disease (CKD) among African Americans.
Bessie A. Young, James G. Wilson, Alex Reiner, Bryan Kestenbaum, Nora Franceschini, Nisha Bansal, Adolfo Correa, Jonathan Himmelfarb, Ronit Katz   +8 more
doaj   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Comparative cranial biomechanics reveal macroevolutionary trends in theropod dinosaurs, with emphasis on Tyrannosauroidea

The Anatomical Record, EarlyView.
Abstract Tyrannosaurus is viewed as a model organism in vertebrate paleontology, with numerous studies analyzing its feeding biomechanics. Nonetheless, the evolution of this feeding performance has been under‐addressed in Tyrannosauroidea, especially in basal tyrannosauroids. Here we used muscle‐force reconstruction and finite element analysis (FEA) to
Evan Johnson‐Ransom, Paul Gignac, Daniel E. Barta, Ryan N. Felice, Eric Snively   +4 more
wiley   +1 more source

Plummer–Vinson syndrome in a 10‐year‐old boy from Côte d'Ivoire: An exceptional paediatric case with African context

JPGN Reports, EarlyView.
Abstract Plummer–Vinson syndrome (PVS) is characterised by the triad of dysphagia, iron‐deficiency anaemia, and proximal oesophageal webs. While well described in adults, paediatric cases remain exceptionally rare, particularly in sub‐Saharan Africa.
Paul Mike Tayou Mbobda, Hatrydt Guillaume Dimitri Kouamé, Amadou Ouattara   +2 more
wiley   +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

Prevalence of sickle cell trait in blood donors in the Midwest region of the State of Minas Gerais

Revista Médica de Minas Gerais, 2022
Introduction: Although sickle cell trait is considered a benign condition, there are studies showing that it presents relevant clinical manifestations, which makes it important to carry out studies to know its prevalence.
Ladeira, Valéria Sutana, Oliveira, Marina Mendes , Rios, Danyelle Romana Alves   +2 more
doaj   +1 more source