Search results for " malformations"

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of E…

2013

Item does not contain fulltext Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac defects [C], tracheoesophageal fistula with or without esophageal atresia [TE], renal malformations [R], and limb defects [L]) association. Here, we report the identification of deletions at chromosome 13q using single nucleotide polymorphism-based array analysis in two patients with mild ARM as part of VATER/VACTERL and VATER/VACTERL-like ass…

Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?

2013

Background: VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies. Methods: Data on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL a…

Devenir des enfants issus des techniques d’assistance médicale à la procréation

2013

Since the birth of the first baby conceived by in vitro fertilization (IVF) 30 years ago (Louise Brown in 1978), there has been a rapid and constant increase in the number of couples using assisted reproductive technologies (ART). Around four million of children have been born from couples experiencing fertility problems, through the use of ART, comprising roughly 2-3 % of all births in Europe and U.S. That highlights that these modes of fertilization are now well assumed by our societies. However, several questions on health of these children remain to be elucidated. As evoked in this review, even if methodological limitations exist, numerous studies have reported increased risks of birth …

Arterio-venous malformations in childhood: Clinical presentation, results after operative treatment and long-term follow-up

1989

In a series of 182 arterio-venous malformations (AVM) recently published [8] we found 33 children aged 1 to 16 years. In 28 cases, the admitting condition was hemorrhage. For 31 AVMs total excision was possible. We observed one postoperative death accounting for a mortality of 3%. All children but two were followed-up by personal examination. Two were not able to work due to severe neurological deficits and seven had not been able to get into their intended occupation.

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…