Search results for " malformation"

Image guidance to improve reliability and data integrity of transcranial Doppler sonography.

2012

Abstract Background Principles and accuracy of image-guided transcranial Doppler (IG TCD) sonography have been published recently. However, it remains open whether combination of image guidance and TCD offers an additional clinical advantage. This study scores the accuracy of conventional TCD examinations and investigates the potential improvement of TCD data integrity and reliability regarding the additional use of IG. Methods Conventional TCD was performed by a group of experienced investigators, who were blinded to images of a navigation system tracking the Doppler probe, whereas an independent observer documented the TCD findings, acquired by the investigators, due to saving spatial dat…

State of the Art and Future Direction in Diagnosis, Molecular Biology, Genetics, and Treatment of Brain Arteriovenous Malformations

2022

Brain arteriovenous malformations (bAVMs) are uncommon and represent a heterogeneous group of lesions. Although these 2 facts have delayed research on this topic, knowledge about the pathophysiology, diagnosis, and treatment of bAVMs has evolved in recent years. We conducted a review of the literature to update the knowledge about diagnosis, molecular biology, genetic, pathology, and treatment by searching for the following terms: "Epidemiology AND Natural History," "risk of hemorrhage," "intracranial hemorrhage," "diagnosis," "angiogenesis," "molecular genetics," "VEGF," "KRAS," "radiosurgery," "endovascular," "microsurgery," or "surgical resection." Our understanding of bAVMs has signific…

Innovations in the Art of Microneurosurgery for Reaching Deep-Seated Cerebral Lesions.

2019

Deep-seated cerebral lesions have fascinated and frustrated countless surgical innovators since the dawn of the microneurosurgical era. To determine the optimal approach, the microneurosurgeon must take into account the characteristics and location of the pathological lesion as well as the operator's range of technical expertise. Increasingly, microneurosurgeons must select between multiple operative corridors that can provide access to the surgical target. Innovative trajectories have emerged for many indications that provide more flexible operative angles and superior exposure but result in longer working distances and more technically demanding maneuvers. In this article, we highlight 4 …

Current Concepts and Perspectives on Brain Arteriovenous Malformations: A Review of Pathogenesis and Multidisciplinary Treatment.

2021

Brain arteriovenous malformations (bAVMs) are unusual vascular pathologies characterized by the abnormal aggregation of dilated arteries and veins in the brain parenchyma and for which the absence of a normal vascular structure and capillary bed leads to direct connections between arteries and veins. Although bAVMs have long been believed to be congenital anomalies that develop during the prenatal period, current studies show that inflammation is associated with AVM genesis, growth, and rupture. Interventional treatment options include microsurgery, stereotactic radiosurgery, and endovascular embolization, and management often comprises a multidisciplinary combination of these modalities. T…

DEVELOPMENT/MALFORMATIONS | Cortical Malformations as a Cause for Epileptiform Activity: The Freeze Lesion Model

2009

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations

2019

IntroductionAnorectal malformations (ARM) are rare congenital malformations, resulting from disturbed hindgut development. A genetic etiology has been suggested, but evidence for the involvement of specific genes is scarce. We evaluated the contribution of rare and low-frequency coding variants in ARM etiology, assuming a multifactorial model.MethodsWe analyzed 568 Caucasian ARM patients and 1,860 population-based controls using the Illumina Human Exome Beadchip array, which contains >240,000 rare and low-frequency coding variants. GenomeStudio clustering and calling was followed by re-calling of 'no-calls' using zCall for patients and controls simultaneously. Single variant and gene-bas…

Redefining the MED13L syndrome

2015

Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficu…

Carotid artery stenting with contralateral carotid occlusion in a rare aortic arch configuration

2010

We present the case of a 47-year-old man admitted to our department with an episode of aphasia. Duplex scan showed an occluded right internal carotid artery and severe left internal carotid artery stenosis. Contrast-enhanced computer tomography demonstrated a common trunk for both common carotid arteries anterior to the trachea and aberrant right subclavian artery posterior to the esophagus. The patient was considered to be a high risk for carotid endarterectomy and, consequently, we performed stenting of the left carotid artery. To our knowledge, this is the first case reporting the combination of these two aortic arch anomalies and the concomitant endovascular treatment of atherosclerotic…

Complications in Craniovertebral Junction Instrumentation: Hardware Removal Can Be Associated with Long-Lasting Stability. Personal Experience

2017

Background The causes of craniovertebral junction (CVJ) instabilities include trauma, rheumatological diseases, tumors, infections, congenital malformations, and degenerative disease processes; these complex pathologies often require CVJ instrumentation. Hardware complications were analyzed in a personal series of 48 treated patients. In light of the analysis of very unusual radiological and clinical findings, the authors tried to better investigate the related mechanisms and to reach possible useful conclusions. Methods In a series of 48 patients who underwent CVJ instrumentation and fusion procedures in our Institution, we describe three cases of hardware failure, due to: (1) infection; (…

Holoprosencephaly: examples of clinical variability and etiologic heterogeneity.

1990

Clinical variability and causal heterogeneity of holoprosencephaly is discussed in relation to several newborn infants with cyclopia (cases 4,5,6), cebocephaly (cases 2,3), and premaxillary agenesis (case 1). In subjects with holoprosencephaly, the presence of multiple malformations is an indicator of concomitant chromosome aberrations, as in present case 1 (Down syndrome) and case 3 (trisomy 13). Cases 5 and 6 are two monozygotic twins with the same type of cyclopia and alobar holoprosencephaly recognized by prenatal ultrasonography. The diagnostic importance of ultrasonographic, cytogenetic, and pathological studies is pointed out in view of etiologic evaluation, genetic counseling, and p…