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Spontaneous Coronary Artery Dissection: Current Knowledge, Research Gaps, and Innovative Research Initiatives: Advances Expert Panel.
JACC Adv
December 2024
Sanger Heart & Vascular Institute, Atrium Health, Charlotte, North Carolina, USA.
Article Synopsis
- Despite progress in recognizing and diagnosing spontaneous coronary artery dissection (SCAD) in the last decade, there is still limited understanding of its mechanisms, contributing factors, and effective treatments.
- The text highlights research gaps in SCAD and suggests strategies like patient advocacy, independent registries, and specialized centers to improve clinical care and research outcomes.
- Additionally, it presents a patient-centered clinical care and research framework developed by the SCAD Alliance and International SCAD registry as a model to enhance understanding and management of this condition.
Myhre syndrome: case report.
Med Clin (Barc)
October 2024
Unidad de Genética Clínica, Servicio de Medicina Interna, Hospital Universitario Príncipe de Asturias, Universidad de Alcalá, Alcalá de Henares (Madrid), España.
The Myhre Syndrome Foundation as a global modern support group: The business of rare.
Am J Med Genet C Semin Med Genet
December 2024
Genetics, Children's Nebraska, University of Nebraska Medical Center, Omaha, Nebraska, USA.
Advocacy support groups grow into national and international organizations, but they all begin with personal experiences. As the parents to a newly diagnosed two-year-old son with Myhre syndrome, my husband and I were overwhelmed with the journey ahead. Thanks to networking, primarily through social media, we located other families living with Myhre syndrome and were quickly immersed in the challenges and joy of this community.
View Article and Find Full Text PDFCorrection: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Eur J Hum Genet
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Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
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