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Rhabdomyosarcoma With EWSR1::NF2 Gene Fusion: A Case Report Potentially Expanding Its Genetic Spectrum.
Genes Chromosomes Cancer
January 2025
Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children, presenting with heterogeneous clinical and molecular subtypes. While gene fusions are predominantly associated with alveolar RMS, spindle cell RMS, especially congenital and intraosseous variants, are also linked to specific gene fusions. Furthermore, recently, FGFR1 kinase-driven RMSs were published.
View Article and Find Full Text PDFDevice-assisted transcatheter closure of large secundum atrial septal defects: a novel approach.
Cardiol Young
January 2025
Department of Cardiology, Medica Super Specialty Hospital, Kolkata, India.
Background: Transcatheter closure of large and complex atrial septal defect can pose challenges and complications during device placement. To improve stability, several assistive techniques have been developed.
Methods: This retrospective study evaluated the efficacy of the device-assisted device closure technique for large secundum atrial septal defects.
Glucocorticoid therapy in classic congenital adrenal hyperplasia: traditional and new treatment paradigms.
Expert Rev Endocrinol Metab
January 2025
Neurocrine Biosciences, Inc, San Diego, CA, USA.
Introduction: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a rare genetic condition characterized by cortisol deficiency and excess adrenal androgens. CAH treatment is a lifelong balancing act between the need to reduce excess androgens, typically with supraphysiologic glucocorticoid (GC) doses, and concerns about potentially serious GC-related adverse events. Tradeoffs between the consequences of excess androgens versus GCs must be constantly reassessed throughout each patient's lifetime, based on current clinical needs and treatment goals.
View Article and Find Full Text PDFRelationship between intraoperative blood pressure variability and postoperative acute kidney injury in pediatric cardiac surgery.
Pediatr Nephrol
January 2025
Department of Anesthesiology, West China Hospital, Sichuan University, No. 37 Guoxue Lane, Wuhou District, Chengdu, 610000, Sichuan, China.
Background: Cardiac surgery-associated acute kidney injury (CSA-AKI) is a notably common complication in pediatrics, with an incidence rate ranging from 15 to 64%. This rate is significantly higher than that observed in adults. Currently, there is a lack of substantial evidence regarding the association between intraoperative blood pressure variability (BPV) during cardiac surgery with cardiopulmonary bypass (CPB) and the development of AKI in pediatric patients.
View Article and Find Full Text PDFRNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease.
Eur J Hum Genet
January 2025
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
The etiology of congenital heart disease (CHD) is complex, comprising both genetic and environmental factors. Despite documented familial occurrences, the genetic etiology remains largely elusive. Trio exome sequencing identified a heterozygous FLT4 splice site variant in two families with respectively tetralogy of Fallot (TOF), and variable CHD comprising both the TOF spectrum and aortic coarctation.
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