Vascular anomalies are common in the upper extremities, but there continues to be a relative paucity of information about them in publications dealing with surgery in the hands and upper limbs. The wide spectrum of pathology and an inconsistent use of terminology make vascular anomalies susceptible to incorrect diagnosis and as a result, to misdirected management. This article aims to provide an update on vascular anomalies relevant to the upper limbs, focusing on significant advances in pathogenesis and genetics, classification systems, diagnosis and treatment.
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http://dx.doi.org/10.1177/1753193418808130 | DOI Listing |
Neurosurg Rev
January 2025
Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
To evaluate the incidence of mortality, hemorrhage, and neurological deficits in treating intracranial arteriovenous malformations (AVMs) in patients over 18 through a comparative analysis of surgical approaches and other therapeutic modalities. A systematic review was conducted using MEDLINE, Embase, CENTRAL, and LILACS databases in November 2023. Inclusion criteria included clinical trials, cohorts studies, case-controls studies, and case series comparing patients over 18 undergoing surgery or microsurgery versus other treatments (radiosurgery, isolated embolization, and conservative treatment).
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Neurosurgery, ASST Grande Ospedale Metropolitano Niguarda, Milano, Italy.
Spinal dural arteriovenous fistulas (SDAVFs) are the most common type of spinal vascular malformations. Multiple SDAVFs are unusual and can occur either synchronously or metachronously, as reported in the literature. We report on the unusual case of a woman with three separate SDAVFs, which were surgically treated within the same setting; the postoperative course was characterised by unexplained repeated haematoma formation within the surgical sites.
View Article and Find Full Text PDFBMJ Open
December 2024
INSERM UMR1231 Génétique des Anomalies du Développement (GAD), Université de Bourgogne, Dijon, France.
Introduction: The megalencephaly capillary malformation polymicrogyria (MCAP syndrome) results from mosaic gain-of-function variants. The main clinical features are macrocephaly, somatic overgrowth, neurodevelopmental delay and brain anomalies. Alpelisib (Vijoice) is a recently FDA-approved PI3Kα-specific inhibitor for patients with PIK3CA-related overgrowth spectrum (PROS).
View Article and Find Full Text PDFNeuroscience
January 2025
Department of Computer Engineering, Faculty of Engineering, Igdir University, 76000, Igdir, Turkey. Electronic address:
Neurological disorders, including cerebral vascular occlusions and strokes, present a major global health challenge due to their high mortality rates and long-term disabilities. Early diagnosis, particularly within the first hours, is crucial for preventing irreversible damage and improving patient outcomes. Although neuroimaging techniques like magnetic resonance imaging (MRI) have advanced significantly, traditional methods often fail to fully capture the complexity of brain lesions.
View Article and Find Full Text PDFThe central nervous system (CNS) parenchyma has conventionally been believed to lack lymphatic vasculature, likely due to a non-permissive microenvironment that hinders the formation and growth of lymphatic endothelial cells (LECs). Recent findings of ectopic expression of LEC markers including Prospero Homeobox 1 (PROX1), a master regulator of lymphatic differentiation, and the vascular permeability marker Plasmalemma Vesicle Associated Protein (PLVAP), in certain glioblastoma and brain arteriovenous malformations (AVMs), has prompted investigation into their roles in cerebrovascular malformations, tumor environments, and blood-brain barrier (BBB) abnormalities. To explore the relationship between ectopic LEC properties and BBB disruption, we utilized endothelial cell-specific overexpression mutants.
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