Search results for " malformations"
showing 10 items of 94 documents
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
2019
See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC variants in ten unrelated patients with a neurodevelopmental disorder characterized by variable degrees of central and peripheral involvement. Abnormal expression of Nfasc155 is accompanied by severe loss of myelinated fibres.
Fistulous-type vein of Galen malformation phantom model for endovascular training and research.
2016
IntroductionVein of Galen malformation (VGM), a high-flow intracranial arteriovenous shunt, is among the most severe neurovascular diseases in childhood. In many cases untreated children die or survive only severely disabled. Endovascular embolization is the preferred treatment.ObjectiveTo develop a simple fistulous-type VGM phantom model for teaching and training of different endovascular treatment methods and to investigate new treatment options and devices.MethodsAn experimental in vitro pulsatile phantom model was developed imitating a high-flow fistulous-type VGM, which is typical, especially in the neonatal phase. Pressure measurements at different arterial sites were performed before…
Assistance of intraoperative microvascular Doppler in the surgical obliteration of spinal dural arteriovenous fistula: cases description and technica…
2003
BACKGROUND: Intraoperative microvascular Doppler may be valuable in assisting in the surgical obliteration of dural arteriovenous fistula of the spinal cord. It enables identification, through flow spectrum analysis, of the anatomic components and haemodynamic features of this type of vascular malformation. METHODS: In two cases, intraoperative microvascular Doppler was used to assist in the surgical obliteration of dural arteriovenous fistula of the spinal cord. The fistulas were identified prior to the dura opening, and for this only minimally invasive surgery was required. Direct recordings of the arterialised draining vein and the nidus of the fistula demonstrated a pathological spectru…
Delayed and incomplete treatment may result in dural fistula development in children with Vein of Galen malformation
2017
The association of dural arteriovenous fistulas (DAVF) in children with Vein of Galen malformation (VGM) has recently been reported for the first time. In a larger series of cases treated with transarterial NBCA embolization, 30% had DAVF. We wanted to analyze the development of DAVF in our cohort of children with VGM and to evaluate whether their occurrence depends on different treatment timing and embolic materials. We analyzed 43 VGM cases treated with a combined transarterial and transvenous approach between 2003 and 2016. In our early series until 2011, we used coils solely in 21 children. Since 2012, 22 children were treated with the combination of coils and Onyx. In the early series…
Endoluminal sclerosis with diode laser in the treatment of orofacial venous malformations
2012
Introduction: The appearance of vascular anomalies in the orofacial area is a common condition, which represents about 50% of these malformations. Traditional treatment approach, such as surgery and chemical sclerosis has been given way to a few less-invasive options, as the use of the 810nm diode laser to induce the sclerosis of the venous malformation by intralesional photocoagulation. Objectives: The objective of this study was to determine the efficacy of the diode laser in the intralesional treatment of the orofacial venous malformations (OFVM), describing the recommended surgical approach, as well as to report the main associated complications. Patients and Methods: 10 cases of OFVM, …
Prognostic evaluation of biofeedback response in patients treated for anorectal malformation
2015
Abstract Purpose Functional bowel outcome in patients with anorectal malformation often is poor. For fecal incontinence resulting from sphincter dysfunction, biofeedback (BFB) training appears to be effective. The aim of study was to investigate the bowel function in incontinent children treated for ARM, using a clinical score, a manometric and pelvic magnetic resonance evaluation, in order to establish predictive parameters of response after BFB. Methods 25 children (median age of 6.5years) with true fecal incontinence were evaluated by clinical score, anorectal manometry and magnetic resonance imaging (MRI). According to these evaluations patients were divided in 4 groups: group 1 (favora…
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors
2014
SummaryExome sequencing analysis of over 2,000 children with complex malformations of cortical development identified five independent (four homozygous and one compound heterozygous) deleterious mutations in KATNB1, encoding the regulatory subunit of the microtubule-severing enzyme Katanin. Mitotic spindle formation is defective in patient-derived fibroblasts, a consequence of disrupted interactions of mutant KATNB1 with KATNA1, the catalytic subunit of Katanin, and other microtubule-associated proteins. Loss of KATNB1 orthologs in zebrafish (katnb1) and flies (kat80) results in microcephaly, recapitulating the human phenotype. In the developing Drosophila optic lobe, kat80 loss specificall…
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
2014
The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (MDA5) cause a spectrum of neuro-immunological features consistently associated with an enhanced interferon state. Cellular and biochemica…
Congenital Pediatric Diseases
2008
Major congenital malformations are diagnosed in 4%–6% of all infants and fetuses (Lynberg and Edmonds 1992). About one third of them are the leading cause for infant mortality or morbidity (Grandjean et al. 1999). Malformations of the internal urogenital system are diagnosed in about 1% of all infants and account for approximately 20% of all congenital malformations, thus being one of the three most frequent birth defects (Table 11.1.1). Therefore a pre- and/or postnatally performed ultrasound screening for malformations of the internal urogenital system should be part of the routine to reduce perinatal mortality and morbidity. The reliability and value of ultrasonographic screening for con…
Antenatal Ultrasound Diagnosis of Congenital Malformations of the Urinary Tract: Results and Criticism
1986
From October 1979 to June 1983 220 malformations were diagnosed antenatally at our hospital; 55 (25%) were malformations of the urinary tract, 21 of them hydronephroses and 34 of them dysplasias.