Background: Ultrasound imaging is inexpensive, portable, and widely available. The development of a real-time transcutaneous spinal cord perfusion monitoring system would allow more precise targeting of mean arterial pressure goals following acute spinal cord injury (SCI). There has been no prior demonstration of successful real-time cord perfusion monitoring in humans.
View Article and Find Full Text PDFDelayed cerebral ischemia (DCI) is a major etiology of poor neurologic outcomes after aneurysmal subarachnoid hemorrhage (aSAH). Although the development of DCI is certainly multifactorial, the presence of vasospasm is strongly correlated with it. Cerebral angiography remains the gold standard for evaluation of vasospasm, though it is not always practical or cost-effective.
View Article and Find Full Text PDFBackground: A significant portion of health care spending is driven by a small percentage of the overall population. Understanding risk factors predisposing patients to disproportionate use of health care resources is critical. Our objective was to identify risk factors leading to a prolonged length of stay (LOS) after cervical spine surgery.
View Article and Find Full Text PDFBackground: Encouraging early time of discharge (TOD) for medical inpatients is commonplace and may potentially improve patient throughput. It is unclear, however, whether early TOD after elective spine surgery achieves this goal without a consequent increase in re-presentations to the hospital.
Objective: To evaluate whether early TOD results in increased rates of hospital readmission or return to the emergency department after elective anterior cervical spine surgery.
Objective: Spinal fusion surgery is increasingly common; however, pseudarthrosis remains a common complication affecting as much as 15% of some patient populations. Currently, no clear consensus on the best bone graft materials to use exists. Recent advances have led to the development of cell-infused cellular bone matrices (CBMs), which contain living components such as mesenchymal stem cells (MSCs).
View Article and Find Full Text PDFEpilepsy is a common feature of Angelman syndrome (~80-90%), with the most common seizure types including myoclonic, atonic, atypical absence, focal, and generalized tonic-clonic. Seizure types are similar among the various genetic subtypes, but epilepsy in those with maternal deletions is more frequent and more refractory to medication. Treatment with older antiepileptic drugs such as valproic acid and clonazepam is effective, but these medications tend to have less favorable side effect profiles in Angelman syndrome compared with those in newer medications.
View Article and Find Full Text PDFChromosome 15q duplication syndrome (Dup15q syndrome) is a neurodevelopmental disorder involving copy number gains of the maternal chromosome 15q11.2-q13 region, characterized by intellectual disability, developmental delay, autism spectrum disorder (ASD), and epilepsy. Gastrointestinal (GI) problems in Dup15q syndrome have been reported only rarely, mostly focused on neonatal feeding difficulties.
View Article and Find Full Text PDFAngelman syndrome (AS) is a neurogenetic disorder. The goal of this study was to investigate the primary health issues affecting adults with AS and to further characterize the natural history and genotype-phenotype correlations. Standardized phone interviews with caregivers for 110 adolescents and adults with AS were conducted.
View Article and Find Full Text PDFPatients with 15q duplication syndromes, including isodicentric chromosome 15 and interstitial duplications, usually present with autism spectrum disorder, intellectual disability, and frequently epilepsy. Neuroimaging studies in these patients are typically reported as normal, but nonspecific findings such as thinning of the corpus callosum and increased pericerebral spaces have been reported. A review of brain magnetic resonance imaging (MRI) studies of 11 individuals seen at the Massachusetts General Hospital Dup15q Center was performed.
View Article and Find Full Text PDFArterial aneurysms, mostly aortic and intracranial, have been occasionally reported in patients with tuberous sclerosis complex. Brain magnetic resonance imaging reports of 404 patients with definite and 16 patients with either probable or possible tuberous sclerosis complex were revised for intracranial aneurysms. Among these patients, brain images of 220 patients with definite and 16 with probable or possible tuberous sclerosis complex were reviewed.
View Article and Find Full Text PDFTuberous sclerosis complex (TSC) is a highly variable, multisystem, genetic disorder that affects approximately 1:6,000 individuals. It has previously been thought that the cardiac manifestation of TSC is congenital rhabdomyomas, which occur during infancy and typically regress during childhood. Recently, there have been findings of cardiac fat-containing lesions in adult TSC patients that appear distinct from the presence of cardiac rhabdomyomas.
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