Category Archives: Congenital disorders

Study design and overview This study employed a randomized controlled trial design. It was conducted at the Infertility and Reproductive Biology Unit of the Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand, from November 2020 to December 2021. Eligible participants were randomly allocated to a “combination group” or a […]

Abstract Adenosine kinase (ADK), the major adenosine-metabolizing enzyme, plays a key role in brain development and disease. In humans, mutations in the Adk gene have been linked to developmental delay, stunted growth, and intellectual disability. To better understand the role of ADK in brain development, it is important to dissect the specific roles of the […]

MONDAY, Nov. 13, 2023 (HealthDay News) — The U.S. Food and Drug Administration has approved Adzynma, the first recombinant protein product indicated for prophylactic or on-demand enzyme replacement therapy (ERT) in adult and pediatric patients with congenital thrombotic thrombocytopenic purpura (cTTP). Adzynma is a purified recombinant form of the ADAMTS13 enzyme that enhances the low […]

In an interview with Pharmacy Times, former American Heart Association president Robert Harrington, MD, professor of medicine at Stanford University, phase 3 program chair, cardiologist, dean of Weill Cornell Medicine, and provost for medical affairs at Cornell University, discussed the Librexia program and how it aims to enhance the benefit-risk profile in patients with cardiovascular […]

Introduction Consanguinity refers to the relationship between any two individuals who are biologically related. In clinical genetics, consanguinity is defined as the marriage between two individuals who are related as second cousins or closer (ie, Inbreeding coefficient ≥0.0156).1 Consanguinity is estimated using inbreeding coefficient, which is a genetic measure of how two people are closely […]

The Food and Drug Administration (FDA) has approved Adzynma for prophylactic or on-demand enzyme replacement therapy (ERT) in adult and pediatric patients with congenital thrombotic thrombocytopenic purpura. Congenital thrombotic thrombocytopenic purpura (cTTP) results from a deficiency in  ADAMTS13 (A disintegrin and metalloproteinase with thrombospondin motifs 13), a von Willebrand factor (VWF) cleaving protease. This leads […]

Born intersex and raised as a boy, Polina has known for years that she wanted to live as a woman. But Russia’s sweeping curbs on gender-affirming healthcare have made that much more difficult. The 33-year-old from Moscow said that since a new law – which targets transgender people – was passed in July, doctors had […]

University of California, Irvine researchers have identified a gene expressed during regeneration that is critical for muscle repair. The key human skeletal muscle gene was also found in a subset of muscle fibers that were able to support human muscle stem cells after transplantation. Although skeletal muscle is one of the most regenerative organ systems, […]