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Congenital Pulmonary Vascular Anomalies and Disease.
Radiol Clin North Am
March 2025
Division of Cardiothoracic Imaging, Department of Radiology, New York-Presbyterian Hospital, Weill Cornell Medical Center, 525 East 68th Street, New York, NY 10065, USA. Electronic address: https://twitter.com/JoannaEscalonMD.
Congenital pulmonary vascular disease is a daunting and diverse topic spanning both pulmonary arterial and venous anomalies. Given advancements in treatment, patients with congenital anomalies have longer life expectancies into adulthood and practicing radiologists are bound to come across these patients during their daily practice. Additionally, many anomalies are discovered incidentally on imaging, yet may still have implications for patient care.
View Article and Find Full Text PDFAnimal models of kabuki syndrome and their applicability to novel drug discovery.
Expert Opin Drug Discov
January 2025
Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Introduction: Kabuki Syndrome (KS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and multiple congenital anomalies. It is caused by pathogenic variants in the and genes. Despite its significant disease burden, there are currently no approved therapies for KS, highlighting the need for advanced research and therapeutic development.
View Article and Find Full Text PDFNon-Viral Delivery Systems to Transport Nucleic Acids for Inherited Retinal Disorders.
Pharmaceuticals (Basel)
January 2025
Department of Pharmacy Sciences, School of Pharmacy and Health Professions, Creighton University, Omaha, NE 68178, USA.
Inherited retinal disorders (IRDs) represent a group of challenging genetic conditions that often lead to severe visual impairment or blindness. The complexity of these disorders, arising from their diverse genetic causes and the unique structural and functional aspects of retinal cells, has made developing effective treatments particularly challenging. Recent advancements in gene therapy, especially non-viral nucleic acid delivery systems like liposomes, solid lipid nanoparticles, dendrimers, and polymersomes, offer promising solutions.
View Article and Find Full Text PDFUnique Subclavian Vascular Ring Anomaly: Insights from CT Angiography.
Life (Basel)
January 2025
Clinical Laboratory of Radiology and Medical Imaging, "Sf. Apostol Andrei" County Emergency Hospital, 900591 Constanta, Romania.
Aortic arch anomalies represent a range of congenital vascular malformations resulting from disruptions in the typical embryological development of the aortic arch and its branches. These anomalies, which vary widely in their presentation, can lead to significant clinical symptoms depending on their structure and position. We report the case of a 75-year-old male with intermittent hypertension, palpitations, and episodic warmth in the upper body.
View Article and Find Full Text PDFCongenital Zika Syndrome: Insights from Integrated Proteomic and Metabolomic Analysis.
Biomolecules
December 2024
Department of Immunology (LIH), Institute of Biomedical Sciences, University of São Paulo, Av. Prof. Lineu Prestes, 2415-Butantã, São Paulo 05508-000, SP, Brazil.
In this study, we investigated the role of extracellular vesicles (EVs) in the pathogenesis of Congenital Zika Syndrome (CZS). Previous studies have highlighted the role of EVs in intercellular communication and the modulation of biological processes during viral infections, motivating our in-depth analysis. Our objective was to identify specific molecular signatures in the EVs of patients with CZS, focusing on their potential as biomarkers and on cellular pathways affected by the infection.
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