Vascular malformations, which result from anomalies in angiogenesis, include capillary, lymphatic, venous, arteriovenous, and mixed malformations and affect specific vessel types. Historically, treatments such as sclerotherapy and surgery have shown limited efficacy in complicated cases. Most vascular malformations occur sporadically, but some can be inherited. They result from mutations similar to oncogenic alterations, activating pathways such as PI3K-AKT-mTOR or Ras-MAPK-ERK. Recognizing these parallels, we highlight the potential of targeted molecular inhibitors, repurposing anticancer drugs for the treatment of vascular malformations. This case-based review explores recent developments in precision medicine for slow-flow and fast-flow vascular malformation.
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http://dx.doi.org/10.1182/hematology.2024000598 | DOI Listing |
Brain Spine
October 2024
Department of Neurosurgery, University Hospital of Dijon Bourgogne, Dijon, France.
Introduction: The introduction of intraoperative fluorophores represented a significant advancement in neurosurgical practice. Nowadays they found different applications: in oncology to improve the visualization of tumoral tissue and optimize resection rates and in vascular neurosurgery to assess the exclusion of vascular malformations or the permeability of bypasses, with real-time intraoperative evaluations.
Research Question: A comprehensive knowledge of how fluorophores work is crucial to maximize their benefits and to incorporate them into daily neurosurgical practice.
Indian J Thorac Cardiovasc Surg
February 2025
Sechenov First Moscow State Medical University, Moscow, Russia.
Pulmonary arteriovenous malformation (PAVM) is a congenital vascular pathology, which is caused by the presence of a direct connection between the branches of the artery and the veins of the lungs, and the discharge of unoxygenated blood into the arterial bed. Arteriovenous malformations are characterized by a wide variety of clinical manifestations and, in some cases, may be accompanied with severe circulatory disorders.
View Article and Find Full Text PDFJACC Case Rep
December 2024
Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.
Fetal and neonatal cardiac tumors are rare and often benign. Clinical presentation is primarily related to mass effect, pericardial effusion or arrhythmia. Prenatal detection can assist with risk assessment and inform optimal delivery plan and postnatal management.
View Article and Find Full Text PDFGland Surg
December 2024
Department of Gynecology, Wenzhou People's Hospital, Wenzhou, China.
Background: Infertility is a special reproductive health defect. For women, congenital uterine malformations, extensive adhesions in the uterine cavity, and hysterectomy are associated with infertility. Uterine transplantation is technically feasible, but its clinical application and development are limited by donor shortages and immune rejection.
View Article and Find Full Text PDFPediatr Dermatol
January 2025
Section of Pediatric Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Oral N-acetylcysteine (NAC) has shown efficacy for debilitating habit-driven and neuropsychiatric disorders in small, mostly adult studies. We retrospectively evaluated the therapeutic use and safety of oral NAC in 93 children from the Children's Hospital of Philadelphia. This study supports the use of oral NAC for habit-driven skin, hair, and nail abnormalities in pediatric patients.
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