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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 PDFEpidemiology of pulmonary alveolar proteinosis: a descriptive study using a Japanese national administrative claims database.
ERJ Open Res
January 2025
Department of Clinical Epidemiology and Health Economics, School of Public Health, The University of Tokyo, Tokyo, Japan.
https://bit.ly/3Z7uBkg.
View Article and Find Full Text PDFEpidemiological Characteristics and Maternal Risk Factors of Microtia and Aural Atresia in Kazakhstan.
Int Arch Otorhinolaryngol
January 2025
School of Medicine, Nazarbayev University, Astana, Kazakhstan.
Microtia and aural atresia present congenital ear anomalies that affect external ear and are associated with conductive hearing loss. Both anomalies result from exposure to various prenatal risk factors, most common during the first trimester of pregnancy. This study was aimed at epidemiological analysis of microtia/atresia and associated risk factors in the Kazakhstani population.
View Article and Find Full Text PDFComorbidities 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 PDFImpact of Hepatoblastoma on Infectious Complications Following Pediatric Liver Transplantation.
Pediatr Transplant
February 2025
Division of Infectious Diseases, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.
Background: Liver transplantation is the standard therapy for end-stage liver disease in pediatric patients with biliary atresia (BA), congenital and metabolic conditions, and for an unresectable malignant tumor like hepatoblastoma (HB). BA is the leading indication for pediatric liver transplantation, while HB is the most common childhood liver cancer. Despite improved outcomes through advanced surgical techniques and novel immunosuppression, pediatric liver transplantation (pLT) is complicated by post-transplant infections.
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