Search results for " malformations."
showing 10 items of 92 documents
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects
2020
International audience; KDM4B is a lysine-specific demethylase with a preferential activity on H3K9 tri/di-methylation (H3K9me3/2)-modified histones. H3K9 tri/di-demethylation is an important epigenetic mechanism responsible for silencing of gene expression in animal development and cancer. However, the role of KDM4B on human development is still poorly characterized. Through international data sharing, we gathered a cohort of nine individuals with mono-allelic de novo or inherited variants in KDM4B. All individuals presented with dysmorphic features and global developmental delay (GDD) with language and motor skills most affected. Three individuals had a history of seizures, and four had a…
Facial cutaneo-mucosal venous malformations can develop independently of mutation of TEK gene but may be associated with excessive expression of Src…
2017
International audience; We aimed to search for mutations in the germline and somatic DNA of the TEK gene and to analyze the expression level of Src and phospho- Src (p-Src) in tumor and healthy tissues from patients with facial cutaneo-mucosal venous malformations (VMCM). Eligible patients from twelve families and thirty healthy controls were recruited respectively at the Departments of Stomatology and Oral Surgery, and Transfusion Medicine of Tlemcen University Medical Centre. Immunoblot analyses of Src and p-Src were performed after direct DNA sequencing. No somatic or germline mutations were found in all the 23 exons and their 5' and 3' intronic flanking regions, except for one case in w…
The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia
2018
Symposium issue: Human Cortex Developmentidentifiant wos: 000482426800014; International audience; The cerebral cortex is a highly organized structure responsible for advanced cognitive functions. Its development relies on a series of steps including neural progenitor cell proliferation, neuronal migration, axonal outgrowth and brain wiring. Disruption of these steps leads to cortical malformations, often associated with intellectual disability and epilepsy. We have generated a new resource to shed further light on subcortical heterotopia, a malformation characterized by abnormal neuronal position. We describe here the generation and characterization of a knockout (KO) mouse model for Eml1,…
RNase H2 Loss in Murine Astrocytes Results in Cellular Defects Reminiscent of Nucleic Acid-Mediated Autoinflammation
2018
Aicardi-Goutières syndrome (AGS) is a rare early onset childhood encephalopathy caused by persistent neuroinflammation of autoimmune origin. AGS is a genetic disorder and >50% of affected individuals bear hypomorphic mutations in ribonuclease H2 (RNase H2). All available RNase H2 mouse models so far fail to mimic the prominent CNS involvement seen in AGS. To establish a mouse model recapitulating the human disease, we deleted RNase H2 specifically in the brain, the most severely affected organ in AGS. Although RNase H2δGFAPmice lacked the nuclease in astrocytes and a majority of neurons, no disease signs were apparent in these animals. We additionally confirmed these results…
Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions
2013
Objective To identify pregnancy-related risk factors for different manifestations of congenital anorectal malformations (ARMs).Design A population-based case-control study.Setting Seventeen EUROCAT (European Surveillance of Congenital Anomalies) registries, 1980-2008.Population The study population consisted of 1417 cases with ARM, including 648 cases of isolated ARM, 601 cases of ARM with additional congenital anomalies, and 168 cases of ARM-VACTERL (vertebral, anal, cardiac, tracheo-esophageal, renal, and limb defects), along with 13371 controls with recognised syndromes or chromosomal abnormalities.Methods Multiple logistic regression analyses were used to calculate adjusted odds ratios …
Role of i-CT, i-US, and Neuromonitoring in Surgical Management of Brain Cavernous Malformations and Arteriovenous Malformations: A Case Series.
2022
OBJECTIVE: We retrospectively reviewed the institutional experience in patients who underwent microsurgical resection of cavernous malformations (CMs) or arteriovenous malformations (AVMs) using a multimodal intraoperative protocol including neuronavigation, intraoperative ultrasound (i-US), computed tomography (i-CT), and neuromonitoring.METHODS: Twenty-four patients (14 male), with a mean age of 47.5 years (range 27 - 73), have been included: 20 of them suffered from CMs and 4 suffered from AVMs.Neuromonitoring was used in 18 cases, when lesions were located in eloquent areas; 2 patients underwent awake craniotomy. First, an i-CT scan with and without contrast was acquired after patient p…
Subtemporal Keyhole Approach to the Suprasellar and Petroclival Region: Microanatomic Considerations and Clinical Application
1997
OBJECTIVE: To minimize surgical invasiveness, the keyhole concept is applied to the subtemporal approach. METHODS: Anatomic features were studied in 14 sides of adult cadaver heads, and the technique was used in 162 interventions. Although most of the lesions treated were 3 cm in size or smaller, larger lesions were also treated using this technique. In some cases, if needed, an endoscope-assisted microsurgical technique was used. RESULTS: The cadaveric study provided intimate experience with the microsurgical anatomy of the approach. The 162 consecutive patients who were operated on harbored various types of lesions; the most recent 43 consecutive interventions were investigated in detail.…
How angioarchitecture of cerebral arteriovenous malformations should influence the therapeutic considerations.
1995
PURPOSE To evaluate the angioarchitectural criteria of complex cerebral arteriovenous malformations (AVMs), concerning the risk of hemorrhage and therapy planing. METHODS The magnetic resonance (MR) imaging and neuroangiographic findings of 227 AVMs (223 patients) were retrospectively evaluated. Statistical analysis was used to define the relative frequency of these lesions for hemorrhage in correlation with various parameters (i.e. age of the patient, size, location, associated aneurysms). RESULTS Onset of symptoms was between 21 and 40 years of age in 50% of cases. The ratio of centrally to convexially located lesions was 1:2. Convexial AVMs are classified by MR imaging into sulcal and gy…
Does Endovascular Treatment with Curative Intention Have Benefits for Treating High-Grade Arteriovenous Malformation versus Radiosurgery? Efficacy, S…
2021
Background The treatment of high-grade arteriovenous malformations (AVMs) remains challenging. Microsurgery provides a rapid and complete occlusion compared with other options but is associated with undesirable morbidity and mortality. The aim of this study was to compare the occlusion rates, incidence of unfavorable outcomes, and cost-effectiveness of embolization and stereotactic radiosurgery (SRS) as a curative treatment for high-grade AVMs. Methods A retrospective series of 57 consecutive patients with high-grade AVM treated with embolization or SRS, with the aim of achieving complete occlusion, was analyzed. Demographic, clinical, and angioarchitectonic variables were collected. Both t…
3D TOF MR Angiography of Cerebral Arteriovenous Malformations after Radiosurgery
1993
To investigate the potential of three-dimensional time-of-flight MR angiography (MRA) to complement SE imaging, 18 patients with intracerebral arteriovenous malformations were prospectively followed after undergoing radiosurgery. Vessel occlusion after stereotaxic single high dose radiotherapy develops slowly. The MRA detected signs of nidus obliteration earlier and with a higher sensitivity than did SE imaging. Six months after radiosurgery, MRA showed a reduction of the nidus flow signals in nine patients and after 1 year it showed reduction in 15 of the 18 patients. As shown by MRA, the loss of flow signals was related to a reduction of the nidus size in 4 patients after 6 months and in …