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Comorbidities and Healthcare Utilization Among Young Adults With Congenital Heart Defects by Down Syndrome Status-Congenital Heart Survey to Recognize Outcomes, Needs, and wellbeinG, 2016-2019.
Birth Defects Res
February 2025
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Background: Almost half of individuals born with Down syndrome (DS) have congenital heart defects (CHDs). Yet, little is known about the health and healthcare needs of adults with CHDs and DS. Therefore, we examined comorbidities and healthcare utilization of this population.
View Article and Find Full Text PDFEvaluation of Neutrophil Elastase Inhibitors as Potential Therapies for Associated Neutropenia.
J Cell Immunol
January 2024
Department of Medicine, University of Washington, Seattle, Washington, U.S.A.
Neutrophil elastase () mutations are the most common cause of cyclic (CyN) and congenital neutropenia (SCN), two autosomal dominant disorders causing recurrent infections due to impaired neutrophil production. Granulocyte colony-stimulating factor (G-CSF) corrects neutropenia but has adverse effects, including bone pain and in some cases, an increased risk of myelodysplasia (MDS) and acute myeloid leukemia (AML). Hematopoietic stem cell transplantation is an alternative but is limited by its complications and donor availability.
View Article and Find Full Text PDFExperience of home monitoring of children with complex CHD during the COVID-19 pandemic: lessons learnt.
Cardiol Young
January 2025
Paediatric Cardiology Department, Royal Belfast Hospital for Sick Children, Belfast, Northern Ireland.
Objective: The COVID-19 pandemic presented unique challenges to global healthcare. Face-to-face outpatient care was dramatically reduced. This study implemented a remote consultation service via a mobile app (Pexip) to monitor patients with major CHD.
View Article and Find Full Text PDFSemaglutide and laparoscopic sleeve gastrectomy in an adolescent with congenital adrenal hyperplasia due to 21-hydroxylase: a case report.
J Med Case Rep
January 2025
Department of Surgery, Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles and Keck School of Medicine of USC, Los Angeles, CA, USA.
Background: Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens. Lifelong glucocorticoid therapy is required, often necessitating supraphysiological doses in youth to manage androgen excess and growth acceleration. These patients experience higher obesity rates, hypertension, and glucose metabolism issues, complicating long-term health management.
View Article and Find Full Text PDFNeonatal and Pediatric Pulmonary Vascular Disease.
Radiol Clin North Am
March 2025
Department of Radiology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Pediatric patients are affected by a wide variety of pulmonary vascular diseases ranging from congenital anomalies diagnosed at birth to acquired diseases that present later in childhood and into adolescence. While some pulmonary vascular diseases present similarly to those seen in adults, other forms are unique to children. Knowledge of the characteristic imaging features of these diseases is essential to facilitate prompt diagnosis and guide clinical management.
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