Results 41 to 50 of about 3,873 (265)

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

A comprehensive update of ICET-a network on COVID-19 in thalassemias: What we know and where we stand

, 2020
A review of the literature on COVID-19 pandemic in patients with thalassemias is presented. Globally, the prevalence of COVID-19 among β-thalassemia patients seems to be lower than in general population; associated co-morbidities aggravated the severity ...
Zarei T., Alkindi S., Kattamis C., Karakas Z., Skafida M., Huseynov V., Christou S., Galati M.C., Kilinc Y., Evim M.S., Kaleva V., Soliman A.T., Yassin M.A., Canatan D., Wali Y., Banchev A., de Sanctis V., Campisi S., Tiryaki T.O., Daar S., Khater D., Stoyanova D., Corrons J.L.V., Karimi M., Gunes A.M., Nasibova A., Oymak Y.   +26 more
core   +3 more sources

Thalassemia and the Heartquake

Thalassemia Reports, 2014
On May 2012 the city of Ferrara and the surrounding region were hit by several earthquakes. We had the chance to observe the behavior of one thalassemic heart during the shocks, because of a 24-h electrocardiogram recording had been put in place a few hours before the shocks.
Caterina Borgna-Pignatti, Anna Tarocco, Alessandro Baldan, Alessandro Fucili   +3 more
openaire   +4 more sources

Cell and Gene Therapies Manufacturing Challenges and Integrated Good Manufacturing Practices Solutions: A Lifecycle Perspective

Biotechnology and Bioengineering, EarlyView.
Lifecycle perspective on cell and gene therapy manufacturing challenges and enabling GMP solutions. ABSTRACT Cell and gene therapies (CGTs) are revolutionizing modern medicine; however, making these advanced medicines scalable and readily available to commercial manufacturers worldwide is a major challenge. The number of approved CGT products continues
Rajath Samaga, Udisha Singh, Sachin Dattram Pawar   +2 more
wiley   +1 more source

β-thalassemias: paradigmatic diseases for scientific discoveries and development of innovative therapies

Haematologica, 2015
β-thalassemias are monogenic disorders characterized by defective synthesis of the β-globin chain, one of the major components of adult hemoglobin. A large number of mutations in the β-globin gene or its regulatory elements have been associated with β ...
Stefano Rivella
doaj   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

Globin gene regulation for treating β-thalassemias: Progress, obstacles and future [PDF]

, 2015
Introduction: β-thalassemias result from mutations in the β-globin gene, leading to a reduced or absent production of β-globin chains. The treatment of β-thalassemias has been historically based on blood transfusions and iron chelation therapy.
Alameddine, Raafat S., Saliba, Antoine N., Taher, Ali T., Harb, Afif R.   +3 more
core   +1 more source

Development and Validation of a Nomogram Based on Red Blood Cell and Reticulocyte Parameters for Differentiating Thalassemia Trait From Iron Deficiency Anemia

Journal of Clinical Laboratory Analysis, EarlyView.
Thalassemia trait (TT) and iron deficiency anemia (IDA) are the primary causes of microcytic hypochromic anemia with overlapping hematological features, making their differential diagnosis challenging, so this study developed and validated a nomogram integrating red blood cell (RBC) count, mean corpuscular volume (MCV), reticulocyte percentage (RET ...
Yong Chen, Yazhen Mao, Jie Liu, Yice Lin, Dandan Chen   +4 more
wiley   +1 more source

Impact of pre‐examination video education in Gd‐EOB‐DTPA‐enhanced liver MRI: A comparative study

Journal of Medical Radiation Sciences, Volume 72, Issue 1, Page 34-41, March 2025.
This study evaluates the effects of pre‐examination video education on patient anxiety, satisfaction and image quality in Gd‐EOB‐DTPA‐enhanced liver MRI. We found that video education significantly reduced anxiety, increased patient satisfaction and improved image quality compared to standard pre‐MRI guidance, highlighting the potential of video ...
Hongfang Huang, Chenhui Li, Zisan Zeng, Junli Liang   +3 more
wiley   +1 more source

Oxidative damage and erythrocyte membrane transport abnormalities in thalassemias. Blood [PDF]

, 1994
Oxidative damage induced by free globin chains has been implicated in the pathogenesis of the membrane abnormali-ties observed in a and B thalassemia. We have evaluated transport of Na+ and K+ in erythrocytes of patients with thalassemias as well as in ...
Oliviero Olivieri, GIRELLI, Domenico, Maria D. Capellini, OLIVIERI, Oliviero, Lucia De Franceschi, Domenico Girelli, Carlo Brugnara, CORROCHER, Roberto, M. D. Capellini, C. Brugnara, Roberto Corrocher, DE FRANCESCHI, Lucia   +11 more
core   +1 more source