Publications by authors named "M J Telen"
Article Synopsis
- The study investigates how rare non-coding genetic variations affect complex traits, specifically focusing on human height by analyzing data from over 333,100 individuals across three large datasets.
- Researchers found 29 significant rare variants linked to height, with impacts ranging from a decrease of 7 cm to an increase of 4.7 cm, after considering previously known variants.
- The team also identified specific non-coding variants near key genes associated with height, demonstrating a new method for understanding the effects of rare variants in regulatory regions using whole-genome sequencing.
Background: Sickle cell disease (SCD) is a chronic medical condition characterized by red blood cell sickling, vaso-occlusion, hemolytic anemia, and subsequently, end-organ damage and reduced survival. Because of this significant pathophysiology and early mortality, we hypothesized that patients with SCD are experiencing accelerated biological aging compared with individuals without SCD.
Methods: We utilized the DunedinPACE measure to compare the epigenetic pace of aging in 131 Black Americans with SCD to 1391 Black American veterans without SCD.
Article Synopsis
- A systematic review and meta-analysis were conducted to assess alloimmunization rates in patients receiving red blood cells (RBCs) matched for standard ABO+D blood type versus those additionally matched for c, E, and Kell antigens (cEK).
- Among the 10 studies analyzed, involving 91,221 transfused patients, those receiving cEK-matched RBCs had a significantly lower alloimmunization rate of 1.9% compared to 6.2% for ABO+D-only matching.
- The findings suggest that implementing cEK matching protocols could reduce alloimmunization risks, particularly important for patients with reproductive potential under the age of 50, highlighting a need for routine testing in this demographic.
Background: Neutrophils in sickle cell disease (SCD) are activated, contributing to disease. Red cell exchange (RCE), with the goal of lowering hemoglobin S (HbS), is an important part of therapy for many SCD patients. Whether RCE impacts neutrophil reactivity is unknown.
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