An unusual combination of large Eustachian valve in a young patient with Friedreich's ataxia cardiomyopathy

Stylianos A. Karvounaris, Georgios S. Papaetis, Petros P. Mavrommatis; Cardiol J 2021;28(3):498-499. DOI: 10.5603/CJ.2021.0051 According to available research this is the first published description of a large Eustachian valve in a patient with FA-CM.

Gene therapy in PIDs, hemoglobin, ocular, neurodegenerative, and hemophilia B disorders

Odiba AS, Okoro NO, Durojaye OA, Wu Y., Open Life Sciences. 2021 ;16(1):431-441. DOI: 10.1515/biol-2021-0033.

Molecular biology and biotechnology tools remained important elements in gene therapy. Gene editing/modification (replacement, insertion, and deletion) largely characterizes this field of biological sciences. The idea of gene therapy was implemented clinically about three decades ago as an alternative to the limitations of pharmacotherapy. Approximately 3,000 known clinical trials are on record. Some limitations are associated with gene therapy; and hence, the need to improve on the current strategies. This has resulted in sophisticated tools using viral and nonviral vectors. Although most of the gene therapy studies are directed toward cancer worldwide, other areas of notable disease require the gene therapy approach; and these include primary immunodeficiency disorders (PIDs), hemoglobin, hemophilia B, ocular, and neurodegenerative disorders.