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A Novel Report of Müllerian (Vaginal/Uterine) Agenesis in a Newborn Girl With LUMBAR Syndrome.
Pediatr Dermatol
January 2025
Division of Dermatology, Children's Mercy Kansas City, Kansas City, Missouri, USA.
LUMBAR syndrome is characterized by lower body segmental infantile hemangiomas, urogenital abnormalities/hemangioma ulceration, spinal cord malformations, bony deformities, anorectal malformations/arterial anomalies, and/or renal anomalies. Here we present an infant girl with LUMBAR syndrome who was also discovered to have Müllerian agenesis, defined as absent uterus or nonfunctional uterine remnants. While vaginal and uterine duplications are included among the diagnostic criteria for LUMBAR syndrome, this is the first case of associated Mullerian agenesis.
View Article and Find Full Text PDFPerioperative management of a neonate with congenital biliary atresia complicated by severe pneumonia undergoing hepatic hilar jejunostomy: A case report.
Nurs Crit Care
January 2025
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
The earlier a child with biliary atresia undergoes surgery after diagnosis, the better the prognosis. However, newborns often present with additional symptoms, most commonly pneumonia, which complicate in stabilizing the child's internal environment preoperatively, challenges anaesthetic management during surgery and hampers postoperative recovery. In current clinical practice, nursing care tends to focus more on symptomatic treatment rather than on a comprehensive pre- and postoperative assessment.
View Article and Find Full Text PDFAcute Left Main Coronary Artery Compression After Harmony-TPV Implantation.
Catheter Cardiovasc Interv
January 2025
Toronto Congenital Cardiac Centre for Adults, Peter Munk Cardiac Centre, University Health Network, University of Toronto, Toronto, Ontario, Canada.
We present an 18-year-old male with Fallot's tetralogy (ToF) repaired with a transannular and main pulmonary artery (PA) patch, who suffered an acute coronary artery compression after a Harmony-TPV deployment. Left main coronary artery compression was confirmed with angiography and IVUS. He underwent emergent surgery, with a bioprosthetic valve replacement.
View Article and Find Full Text PDFA Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.
Am J Med Genet A
January 2025
Department of Pulmonology, Children's Hospital of Zhejiang University School of Medicine & National Clinical Research Center for Child Health, Hangzhou, China.
Congenital heart defects and skeletal malformations syndrome (CHDSKM) is a rare autosomal dominant genetic disorder characterized by specific clinical features, including dysmorphic facial traits, congenital heart defects, skeletal abnormalities, joint issues, and failure to thrive. The novelty of this case lies in the identification of a novel mutation in the ABL1 gene, expanding the genetic spectrum associated with this syndrome. A 5.
View Article and Find Full Text PDFExtended resection of a mediastinal tumour with diaphragm reconstruction.
Multimed Man Cardiothorac Surg
January 2025
Division of Thoracic Surgery, Department of Surgery, University of Florida, Gainesville, Florida, USA.
In this case report, we present a 39-year-old patient with a large space-occupying tumour of the right hemichest and anterior mediastinum. Due to the large size of the tumour and involvement of the right lung, a right pneumonectomy, right hemidiaphragm and partial pericardial resection were completed.
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