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| http://dx.doi.org/10.1136/bcr-2022-252414 | DOI Listing |
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Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study.
Mol Genet Metab Rep
March 2025
Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Background: The current standard of care for infantile-onset Pompe disease (IOPD), a severe form of acid α-glucosidase enzyme activity deficiency is: (1) detection by newborn screening, (2) early initiation of intravenous enzyme replacement therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), with higher doses of rhGAA increasingly used to improve clinical outcomes, and (3) immune tolerization induction (ITI) using to prevent anti-rhGAA antibody formation, with methotrexate (MTX), rituximab, and IVIG used for patients who are cross-reactive immunologic material negative (CRIM-) and monotherapy with MTX used in patients who are cross-reactive immunologic material positive (CRIM+).
Objectives/methods: A pilot study evaluates a dose-intensive therapy (DIT) using high-dose ERT (40 mg/kg/week) and more frequent exposure to ERT (i.e.
Staged Approach: The Role of Delayed Repair Following Complete Unifocalization of Major Aortopulmonary Collateral Arteries with Ventricular Septal Defect and Pulmonary Atresia.
World J Pediatr Congenit Heart Surg
January 2025
Division of Cardiac Surgery, University of Toronto, Toronto, ON, Canada.
The presentation of pulmonary vasculature in pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries (PA/VSD/MAPCA) is highly variable-as is the number, size and position of the MAPCAs and their relationship with the native pulmonary artery system. The priority in the management of this disease should be attaining timely and complete unifocalization, as opposed to single-stage full repair in every case. The merit of early unifocalization is that it secures the pulmonary vascular bed by (a) avoiding loss of lung segments from progressive stenosis/atresia of MAPCA origins, (b) preventing lung injury from high pressure/flow in areas fed by large, unobstructed MAPCAs, and (c) restoring central continuity of the pulmonary vasculature.
View Article and Find Full Text PDFTherapeutic Dilemmas Arising From a Serpentine Thrombus Across a Patent Foramen Ovale in a Patient With Dilated Cardiomyopathy.
Cureus
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Cardiology/Internal Medicine, Luton and Dunstable University Hospital, Luton, GBR.
A thrombus straddling a patent foramen ovale (TSPFO) is a rare condition that presents significant health risks, including stroke or myocardial infarction, and can be life-threatening if not promptly addressed. We report the case of a 42-year-old female with morbid obesity who presented with sudden shortness of breath due to a bilateral pulmonary embolism. Imaging revealed a thrombus extending from the right atrium to the left atrium through the patent foramen ovale (PFO).
View Article and Find Full Text PDFBiventricular Dysfunction Due to Chronic Mitral Valve Regurgitation Caused by Aberrant Mitral Arcade.
Ann Thorac Surg Short Rep
December 2024
Division of Cardiac Surgery, Department of Surgery, Thomas Jefferson University, Philadelphia, Pennsylvania.
A 53-year-old male individual with chronic severe mitral regurgitation presented with biventricular dysfunction, pulmonary hypertension, and atrial fibrillation. Echocardiography demonstrated a posterior leaflet prolapse with malcoaptation. Mitral valve repair and Maze procedure were performed, revealing absent chordae and direct connection from the anterolateral papillary muscle to the posterior leaflet, consistent with partial mitral arcade.
View Article and Find Full Text PDFSevere Cardiopulmonary Complications and Stroke in a Patient With HIV and Chronic Substance Abuse: A Case Report.
Cureus
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Cardiology, Lower Bucks Hospital, Bristol, USA.
This case report presents a 37-year-old male with a complex medical history, including HIV, chronic methamphetamine and cocaine use, and an atrial septal defect, who developed severe pulmonary arterial hypertension (PAH), biventricular failure, and recurrent stroke. The patient was admitted with acute neurological deficits and respiratory failure, which rapidly progressed despite intensive management. Laboratory and imaging studies revealed severe cardiac dysfunction and elevated pulmonary vascular resistance.
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