Results 91 to 100 of about 5,799 (244)

Severe Hemolytic Anemia due to De novo Hemoglobin Sabine in an argentinian newborn: first case in South America [PDF]

, 2015
Hemoglobin (Hb) Sabine is an unstable Hb variant that causes hemolytic anemia in heterozygous state, with inclusion bodies in the red blood cells (RBC). This hemoglobin is the result of a point mutation at codon 91(CTG)(CCG) of the beta-globin gene.
Acosta, Irma, Bragós, Irma, Detarsio, Germán, Ojeda, Mara Jorgelina, Perez, Susana, Pratti, Arianna, Raviola, Mariana, Verón, Luciano, Voss, María Eda, Zirone, Sandra   +9 more
core   +1 more source

The role of iron in normal and impaired testicular function

Andrology, 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, Esther G. Meyron‐Holtz, Andreas Meinhardt   +2 more
wiley   +1 more source

Enlarging the gene-geography of Europe and the Mediterranean area to STR loci of common forensic use: longitudinal and latitudinal frequency gradients

Annals of Human Biology, 2018
Background: Tetranucleotide Short Tandem Repeats (STRs) for human identification and common use in forensic cases have recently been used to address the population genetics of the North-Eastern Mediterranean area.
Francesco Messina, Andrea Finocchio, Nejat Akar, Aphrodite Loutradis, Emmanuel I. Michalodimitrakis, Radim Brdicka, Carla Jodice, Andrea Novelletto   +7 more
doaj   +1 more source

Effects of vitamin e and zinc supplementation on antioxidants in beta thalassemia major patients [PDF]

, 2011
Objective: In beta thalassemic patients, tissue damage occurs due to oxidative stress and it happens because of the accumulation of iron in the body. This study was conducted to determine the effect of zinc and vitamin E supplementation on antioxidant ...
Aboomardani, M., Arefhosseini, S.-R., Joshaghani, H., Keshtkar, A., Rafraf, M., Rashidi, M.   +5 more
core   +1 more source

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

Andrology, 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, Emily Hamilton, Noga Fuchs Weizman, Sandra E. Kleiman, Shlomit Shabat, Foad Azem, Shimi Barda   +6 more
wiley   +1 more source

alpha-thalassemia, HbS, and beta-globin gene cluster haplotypes in two Afro-Uruguayan sub-populations from northern and southern Uruguay

Genetics and Molecular Biology, 2006
Hemoglobinopathies are the most common monogenic disorders worldwide; however, they have never been systematically studied from a genetic perspective in Uruguay. In this study, we determined the frequencies of hemoglobin variants in Afro-Uruguayans.
Julio A. da Luz, Mónica Sans, Elza Miyuki Kimura, Dulcinéia Martins Albuquerque, Maria de Fatima Sonati, Fernando Ferreira Costa   +5 more
doaj   +1 more source

Postnatal and non-invasive prenatal detection of β-thalassemia mutations based on Taqman genotyping assays [PDF]

, 2017
The β-thalassemias are genetic disorder caused by more than 200 mutations in the β-globin gene, resulting in a total (β0) or partial (β+) deficit of the globin chain synthesis. The most frequent Mediterranean mutations for β-thalassemia are: β039, β+ VSI-
Borgatti, Monica, Breveglieri, Giulia, Cosenza, Lucia Carmela, D'Aversa, Elisabetta, Gambari, Roberto, Guerra, Giovanni, Pellegatti, Patrizia, Travan, Anna   +7 more
core   +2 more sources

Classification of red blood cell shapes in flow using outlier tolerant machine learning [PDF]

, 2018
The manual evaluation, classification and counting of biological objects demands for an enormous expenditure of time and subjective human input may be a source of error. Investigating the shape of red blood cells (RBCs) in microcapillary Poiseuille flow,
Kaestner, Lars, Kihm, Alexander, Quint, Stephan, Wagner, Christian   +3 more
core   +2 more sources

Therapeutic Relevance of Inducing Autophagy in β-Thalassemia

Cells
The β-thalassemias are inherited genetic disorders affecting the hematopoietic system. In β-thalassemias, more than 350 mutations of the adult β-globin gene cause the low or absent production of adult hemoglobin (HbA).
Roberto Gambari, Alessia Finotti
doaj   +1 more source

Spectrum of thalassemias and hemoglobinopathies in West Bengal: A study of 90,210 cases by cation exchange high-performance liquid chromatography method over a period of 8 years

Journal of Applied Hematology, 2014
Background: Thalassemias and hemoglobinopathies are highly prevalent in India. Identification of these disorders is important for epidemiologic purposes and for prevention of thalassemia major and clinically severe hemoglobinopathies. Objectives: The aim
Santosh Kumar Mondal, Senjuti Dasgupta, Saikat Mondal, Nikhilesh Das   +3 more
doaj   +1 more source