These longitudinal findings confirm and extend previous cross-sectional results documenting significant associations between PD and MD in parents and patterns of psychopathology and dysfunction in their offspring.
Spinal epidural lipomatosis (SEL) is a common pathology of the lumbar spine. While the natural history is not well understood, there is a strong association with metabolic syndrome and endocrine dysfunction. Clinical presentation typically involves slow, progressive onset of radicular and myelopathic symptoms. Treatment primarily consists of weight loss, while surgery is reserved for refractory cases or acute cauda equina syndrome. We present a case of acute spinal cord injury (SCI) after trauma with underlying SEL in the cervicothoracic spine. Additionally, a literature review using a MEDLINE search of the English literature through April 2020 following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines was performed to identify all documented cases of acute spinal cord injury with underlying SEL. A 72-year-old obese male with insulin-dependent diabetes mellitus presented with subacute bilateral lower extremity weakness after a fall with a flank injury three days prior to evaluation. Within hours of admission, the patient acutely progressed to paraplegia and sensory loss below the T6 level consistent with an ASIA (American Spinal Injury Association) A spinal cord injury. No fracture or dislocation was identified on CT imaging. MRI of the thoracic spine revealed spinal cord compression secondary to extensive posterior epidural lipomatosis with resultant anterior displacement of the thecal sac. The patient underwent emergent T2-T9 laminectomy for decompression. Post-operatively, the patient regained sensation below the level of injury. A review of the literature reviewed no published articles on cases of complete spinal cord injury secondary to underlying SEL without associated fracture. Finally, we present the first report of an acute spinal cord injury in the setting of SEL without fracture. Our case demonstrates that SEL outside the lumbar spine confers increased risk for SCI following trauma. Patients with cervicothoracic SEL may require close neurological observation and timely surgical decompression.
Study Design. A retrospective review study. Objective. This study aims to determine the effect of osteoporosis on spine instrumentation. Summary of Background Data. Osteoporosis is a common skeletal pathology that affects systemic cortical bone maintenance and remodeling. This disease accelerates the degeneration of the spine, often necessitating spinal surgery for progressive vertebral deformity, pathologic fracture, bony canal stenosis, and/or neural element decompression. There is a paucity of literature describing the role of osteoporosis as it relates to both perioperative complications and outcomes after spine fusion surgery. Materials and Methods. A retrospective review was conducted of a prospectively maintained database for patients undergoing spine surgery between January 1, 2006 and October 3, 2017. Inclusion criteria included age 18 years and above and surgery performed for the correction of thoracolumbar scoliosis. Data collected included various demographic, clinical, and operative variables. Results. A total of 532 patients met inclusion criteria, including 144 (27%) patients with a diagnosis of osteoporosis. Osteoporosis was significantly associated with increased blood volume loss (P=0.003). Postoperatively, osteoporosis was associated with increased rates of instrumentation failure (19% vs. 10%; P=0.008) and the need for revision surgery (33% vs. 16%; P<0.001). Multivariate analysis confirmed osteoporosis to be an independent risk factor for increased mean number of spinal segments fused (P<0.05), mean blood volume loss (P<0.05), rate of postoperative deep venous thrombosis/pulmonary embolism (P<0.05), rate of instrumentation failure (P<0.05), and need for revision surgery (P<0.05). Conclusion. Osteoporosis is a significant risk factor for instrumentation failure and need for revision surgery following arthrodesis for scoliosis correction. Furthermore, patients with osteoporosis have a significantly higher risk of intraoperative blood volume loss and postoperative thromboembolic events.
Originally approved in 1979, a specific grading classification for central nervous system (CNS) tumors was devised by the World Health Organization (WHO) in an effort to guide cancer treatment and better understand prognosis. These “blue books” have since undergone several iterations based on tumor location, advancements in histopathology, and most recently, diagnostic molecular pathology in its fifth edition. As new research methods have evolved to elucidate complex molecular mechanisms of tumorigenesis, a need to update and integrate these findings into the WHO grading scheme has become apparent. Epigenetic tools represent an area of burgeoning interest that encompasses all non-Mendelian inherited genetic features affecting gene expression, including but not limited to chromatin remodeling complexes, DNA methylation, and histone regulating enzymes. The SWItch/Sucrose non-fermenting (SWI/SNF) chromatin remodeling complex is the largest mammalian family of chromatin remodeling proteins and is estimated to be altered in 20–25% of all human malignancies; however, the ways in which it contributes to tumorigenesis are not fully understood. We recently discovered that CNS tumors with SWI/SNF mutations have revealed an oncogenic role for endogenous retroviruses (ERVs), remnants of exogenous retroviruses that integrated into the germline and are inherited like Mendelian genes, several of which retain open reading frames for proteins whose expression putatively contributes to tumor formation. Herein, we analyzed the latest WHO classification scheme for all CNS tumors with documented SWI/SNF mutations and/or aberrant ERV expression, and we summarize this information to highlight potential research opportunities that could be integrated into the grading scheme to better delineate diagnostic criteria and therapeutic targets.
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