Search results for "Malformation"
showing 10 items of 208 documents
Odontoid process and clival regeneration with Chiari malformation worsening after transoral decompression: an unexpected and previously unreported ca…
2015
Purpose: Transoral odontoidectomy followed by occipito-cervical fixation is a widely used approach to relieve ventral compressions at the craniovertebral junction (CVJ). Despite the large amount of literature on this approach and its complications, no previous reports of odontoid process and clival regeneration following transoral odontoidectomy are present in the English literature. Methods: We report the case of odontoid process and clival regeneration following transoral odontoidectomy. Results: A 7-year-old boy presented with symptoms of brainstem and upper cervical spinal cord compression due to a complex malformation at the CVJ including a basilar invagination with Chiari malformation…
Preliminary communication: imiquimod in mixed capillary/lymphatic malformation.
2008
: The present authors reported a 14-year-old white boy who visited the present authors’ dermatology department in January 2004. Physical examination revealed multiple translucent and hemorrhagic vesicles and skin-colored nodules on the chin. The lesion had grown slowly in size over the previous 7 years. The objective of this study is to estimate the exact mechanism of action of topical imiquimod on mixed capillary/lymphatic malformation. After 4 weeks of therapy the lesions were less protuberant. At the follow-up examination after a further 2 months of therapy, there was partial clinical regression of the capillary component with a return to normal skin color. One month after termination o…
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…
E-ABR in Patients with Cochlear Implant: A Comparison between Patients with Malformed Cochlea and Normal Cochlea
2019
Objectives This study aims to compare the electrical auditory brainstem response (EABR) following cochlear implant (CI) surgery in pediatric subjects with cochlear malformation and a normal cochlea, in order to assess the sensitivity of EABR and to evaluate the surgery outcome. Materials and methods A total of 26 pediatric subjects who were deaf and scheduled for CI surgery were enrolled into this case control study. Group A (n=20) included subjects with a normo-conformed cochlea. Group B (n=6) included subjects with cochlear malformation. Subjects were evaluated with EABR immediately (T0) and 6 months (T1) post-CI surgery. The EABR Waves III and V average amplitude and latency were compare…
L'approche basée sur le génotype déterminé par séquençage haut-débit en première intention et le partage international des données pour identifier de…
2019
Developmental disorders (DD) include malformative disorders and neurodevelopmental disorders such as intellectual disability (ID) and autism spectrum disorders (ASD). These clinical features can be isolated or combined in a given patient, they affect around 3% of worldwide population. These disorders are responsible for major morbidity and mortality, for hospitalization especially in pediatric departments, for disabilities and, therefore, this represents a public health priority. Since 2004, in France, several national plans were conducted and extended, the last one being the 3rd National Plan for Rare Disorders (PNMR 2018-2022) which include 10 main goals, among others increasing diagnosis…
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…