Suchergebnisse

AbstractThe aim of this anatomical study is to describe the anatomy of the hypoglossal nerve (HN) from its origin to the extracranial portion as it appears by performing a combined posterolateral and anterolateral approach to the craniovertebral junction (CVJ). Twelve fresh, non-formalin-fixed adult cadaveric heads (24 sides) were analyzed for the simulation of the combined lateral approach to the CVJ. The HN is divided into three main parts: cisternal, intracanalicular, and extracranial The anatomical relationships between the HN and other nerves, muscles, arteries and veins were carefully recorded, and some measurements were made between the HN and related structures. Thus, various landmarks were determined for the easy identification of the HN. Understanding the detailed anatomy of the HN and its relationships with the surrounding structures is crucial to prevent some complications during CVJ surgery.

Although multiple concurrent spinal arteriovenous fistulas (DAVFs) are a well-known anatomical and clinical entity, the management of these lesions and timing of surgical intervention is still a matter of debate.A 74-year-old man with a 2-year history of progressive weakness of both lower limbs and lower back pain was diagnosed angiographically with a thoracic DAVF. During the surgical procedure, double independent spinal DAVFs were identified. With the aid of neurophysiologic monitoring, we proceeded to the closure of both fistulas in a one-step surgery.Neurophysiologic monitoring represents a valid, widely available, minimally invasive tool for the detection of immediate motor fiber damage due to disruption of the incorrect vessels during DAVF surgery and facilitates a safe treatment in a one-step procedure.

Background Lumbar spinal stenosis (LSS) and low-grade degenerative spondylolisthesis are frequently associated with facet joint degeneration, considered the main cause of low back pain. Surgery is the treatment of choice in patients affected by LSS unresponsive to conservative treatment. The aim of this study was to evaluate the clinical and radiologic outcome of patients treated with posterior decompression and transfacet fixation for single-level LSS and facet joint degeneration.
Methods A total of 25 patients between May 2015 and June 2016 affected by radiologically demonstrated one-level LSS with facet joint degeneration and grade I spondylolisthesis were included in this prospective study. All the patients underwent laminectomy, foraminotomy, and one-level facet fixation (Facet-Link, Inc., Rockaway, New Jersey, United States). Pre- and postoperative clinical (Oswestry Disability Index [ODI], Short Form-36 [SF-36]) and radiologic (radiographs, magnetic resonance imaging, computed tomography) data were collected and analyzed.
Results Mean follow-up was 12 months. The L4–L5 level was involved in 18 patients (72%) and L5–S1 in 7 patients (28%); the average operative time was 80 minutes (range: 65–148 minutes), and the mean blood loss was 160 mL (range: 90–200 mL). ODI and SF-36 showed a statistically significant (p < 0.05) improvement at last follow-up.
Conclusions Transfacet fixation is a safe and effective treatment option in patients with single-level LSS, facet joint degeneration, and mild instability.

A number of rare copy number variants (CNVs), including both deletions and duplications, have been associated with developmental disorders, including schizophrenia, autism, intellectual disability, and epilepsy. Pathogenicity may derive from dosage sensitivity of one or more genes contained within the CNV locus. To understand pathophysiology, the specific disease-causing gene(s) within each CNV need to be identified. In the present study, we test the hypothesis that ohnologs (genes retained after ancestral whole-genome duplication events, which are frequently dosage sensitive) are overrepresented in pathogenic CNVs. We selected three sets of genes implicated in copy number pathogenicity: (i) genes mapping within rare disease-associated CNVs, (ii) genes within de novo CNVs under negative genetic selection, and (iii) genes identified by clinical array comparative genome hybridization studies as potentially pathogenic. We compared the proportion of ohnologs between these gene sets and control genes, mapping to CNVs not known to be disease associated. We found that ohnologs are significantly overrepresented in genes mapping to pathogenic CNVs, irrespective of how CNVs were identified, with over 90% containing an ohnolog, compared with control CNVs >100 kb, where only about 30% contained an ohnolog. In some CNVs, such as del15p11.2 (CYFIP1) and dup/del16p13.11 (NDE1), the most plausible prior candidate gene was also an ohnolog, as were the genes VIPR2 and NRXN1, each found in short CNVs containing no other genes. Our results support the hypothesis that ohnologs represent critical dosage-sensitive elements of the genome, possibly responsible for some of the deleterious phenotypes observed for pathogenic CNVs and as such are readily identifiable candidate genes for further study. ; info:eu-repo/grantAgreement/EC/FP7/223423 Science Foundation Ireland European Research Council (ERC) ERC under the European Union 309834 Guy's and St. Thomas' Charity Grant R080529