Open Access. Powered by Scholars. Published by Universities.®

Diseases Commons

Open Access. Powered by Scholars. Published by Universities.®

Articles 1 - 11 of 11

Full-Text Articles in Diseases

Associations Between Performance On The Rey-Osterrieth Complex Figure And Regional Brain Volumes In Children With And Without Velocardiofacial Syndrome, Kevin Antshel, Jena Peebles, Nuria Abdulsabur, Anne Marie Higgins, Nancy Roizen, Robert Shprintzen, Wanda Fremont, Robert Natasi, Wendy Kates Dec 2015

Associations Between Performance On The Rey-Osterrieth Complex Figure And Regional Brain Volumes In Children With And Without Velocardiofacial Syndrome, Kevin Antshel, Jena Peebles, Nuria Abdulsabur, Anne Marie Higgins, Nancy Roizen, Robert Shprintzen, Wanda Fremont, Robert Natasi, Wendy Kates

Robert J. Shprintzen

Ninety-two children with velocardiofacial syndrome (VCFS), a genetic disorder caused by a microdeletion of chromosome 22q11.2 and an age, race, and gender-ratio comparable sample of 59 control participants were included in the project. Participants received an MRI as well as a comprehensive neuropsychological battery; the primary outcome measure in the current report is the Rey-Osterrieth Complex Figure (ROCF). Children with VCFS performed less well on the ROCF and have lower whole brain volume compared to controls. After controlling for whole brain volume differences, children with VCFS have bilaterally less parietal lobe gray and white matter yet more frontal lobe white …


Kyphotic Progression After Thoracolumbar Burst Fractures Treated Conservatively, With Mis, Or Via Open Approach, Mark Rivkin, Howard Eisenbrock Dec 2015

Kyphotic Progression After Thoracolumbar Burst Fractures Treated Conservatively, With Mis, Or Via Open Approach, Mark Rivkin, Howard Eisenbrock

Mark Rivkin

Management of thoracolumbar burst fractures (AO A3) without neurological deficit is subject to debate in the literature. While TLICS provides guidance for injuries necessitating intervention, it makes little mention of best surgical approaches. Furthermore, intact patients with suspected posterior ligamentous complex injury (TLICS 4) compose an additional level of management uncertainty. Present study examined outcomes for TL burst fractures in neurologically intact patients with suspected disruption of the PLC treated with bracing, MIS, or open fixation and fusion.


Leukoaraiosis And Sex Predict The Hyperacute Ischemic Core Volume, Nils Henninger, Eugene Lin, Diogo Haussen, Laura Lehman, Deepak Takhtani, Magdy Selim, Majaz Moonis Apr 2015

Leukoaraiosis And Sex Predict The Hyperacute Ischemic Core Volume, Nils Henninger, Eugene Lin, Diogo Haussen, Laura Lehman, Deepak Takhtani, Magdy Selim, Majaz Moonis

Nils Henninger

BACKGROUND AND PURPOSE: Leukoaraiosis (LA) and male sex have been associated with decreased cerebrovascular reactivity, which potentially adversely affects tissue viability in acute stroke. Therefore, we aimed to elucidate the contribution of LA-severity and sex to the extent of the hyperacute ischemic core volume after intracranial large artery occlusion. METHODS: We analyzed data from 87 patients with acute intracranial large artery occlusion who had acute multimodal computed tomography-imaging. LA-severity was assessed using the van Swieten scale on noncontrast computed tomography. Computed tomography perfusion data were analyzed using automatic calculation of the mean transit time and hyperacute cerebral blood volume defects. …


Severity Of Pre-Existing Cerebral Small Vessel Disease Is Associated With Outcome After Traumatic Brain Injury, Nils Heninger, Saef Izzy, Raphael Carandang, Wiley Hall, Susanne Muehlschlegel Apr 2015

Severity Of Pre-Existing Cerebral Small Vessel Disease Is Associated With Outcome After Traumatic Brain Injury, Nils Heninger, Saef Izzy, Raphael Carandang, Wiley Hall, Susanne Muehlschlegel

Nils Henninger

Background and purpose: It is now well accepted that traumatic white matter injury constitutes a critical determinant of post-traumatic functional impairment. However, the contribution of pre-existing white matter rarefaction on outcome following traumatic brain injury (TBI) is unknown. Hence, we sought to determine whether the burden of pre-existing cerebral small vessel disease related white matter rarefaction (leukoaraiosis) is independently associated with outcome after TBI. Methods: We retrospectively analyzed consecutive, prospectively enrolled patients of ≥50 years (n=136) that were admitted to a single neurological-trauma intensive care unit. Supratentorial white matter hypoattenuation on head CT was graded on a 5-point scale (range …


Traumatic Brain Injury: Translation From Animal Models And Genetics To Improving Outcomes, Susanne Muehlschlegel, Nils Henninger, Raphael Carandang, Constance Moore Apr 2015

Traumatic Brain Injury: Translation From Animal Models And Genetics To Improving Outcomes, Susanne Muehlschlegel, Nils Henninger, Raphael Carandang, Constance Moore

Nils Henninger

This presentation offers background information on traumatic brain injury (TBI), a public health problem which affects approximately 1.7 million Americans each year. The presentation is part of a mini-symposium highlighting the interdisciplinary and translational nature of TBI research at the University of Massachusetts Medical School.


Long-Term Changes Of Functional Mri-Based Brain Function, Behavioral Status, And Histopathology After Transient Focal Cerebral Ischemia In Rats, Kenneth Sicard, Nils Henninger, Marc Fisher, Timothy Duong, Craig Ferris Apr 2015

Long-Term Changes Of Functional Mri-Based Brain Function, Behavioral Status, And Histopathology After Transient Focal Cerebral Ischemia In Rats, Kenneth Sicard, Nils Henninger, Marc Fisher, Timothy Duong, Craig Ferris

Nils Henninger

BACKGROUND AND PURPOSE: The relation between recovery of brain function and neurological status after clinical and experimental cerebral ischemia is incompletely characterized. We assessed the evolution of ischemic injury, behavioral status, and brain activity at acute to chronic periods after transient middle cerebral artery occlusion (tMCAO) in rats. METHODS: Male Sprague-Dawley rats were subjected to 20-minute tMCAO (n=10) or sham operation (n=10). Sensorimotor behavioral testing and multimodal (diffusion, perfusion, T2, and functional) MRI, as well as postmortem hematoxylin-eosin staining, were performed before and up to 21 days after tMCAO. MRI and histological parameters were evaluated in 5 regions of interest …


Stimulating Circle Of Willis Nerve Fibers Preserves The Diffusion-Perfusion Mismatch In Experimental Stroke, Nils Henninger, Marc Fisher Apr 2015

Stimulating Circle Of Willis Nerve Fibers Preserves The Diffusion-Perfusion Mismatch In Experimental Stroke, Nils Henninger, Marc Fisher

Nils Henninger

BACKGROUND AND PURPOSE: Stimulation of the nerves traversing the ethmoidal foramen (including postsynaptic, parasympathetic projections from the sphenopalatine ganglion [SPG], henceforth referred to as "SPG-stimulation") has been shown to elevate cerebral blood flow (CBF) and to be neuroprotective after permanent, middle cerebral artery occlusion (pMCAO). METHODS: Employing diffusion (DWI)- and perfusion (PWI) weighted MRI, the effect of SPG-stimulation (started at 60 minutes post-MCAO) on the spatiotemporal evolution of ischemia during and after pMCAO was investigated. In an additional experiment, regional CBF changes were investigated in the nonischemic brain. RESULTS: In the nonischemic brain, SPG stimulation significantly elevated CBF predominantly within …


Leukoaraiosis Predicts Poor 90-Day Outcome After Acute Large Cerebral Artery Occlusion, Nils Henninger, Eugene Lin, Stephen Baker, Ajay Wakhloo, Deepak Takhtani, Majaz Moonis Apr 2015

Leukoaraiosis Predicts Poor 90-Day Outcome After Acute Large Cerebral Artery Occlusion, Nils Henninger, Eugene Lin, Stephen Baker, Ajay Wakhloo, Deepak Takhtani, Majaz Moonis

Nils Henninger

BACKGROUND: To date limited information regarding outcome-modifying factors in patients with acute intracranial large artery occlusion (ILAO) in the anterior circulation is available. Leukoaraiosis (LA) is a common finding among patients with ischemic stroke and has been associated with poor post-stroke outcomes but its association with ILAO remains poorly characterized. This study sought to clarify the contribution of baseline LA and other common risk factors to 90-day outcome (modified Rankin Scale, mRS) after stroke due to acute anterior circulation ILAO. METHODS: We retrospectively analyzed 1,153 consecutive patients with imaging-confirmed ischemic stroke during a 4-year period (2007-2010) at a single academic …


Association Of Ubqln1 Mutation With Brown-Vialetto-Van Laere Syndrome But Not Typical Als, Paloma Gonzalez-Perez, Yubing Lu, Ru-Ju Chian, Peter Sapp, Rudolph Tanzi, Lars Bertram, Diane Mckenna-Yasek, Fen-Biao Gao, Robert Brown Dec 2012

Association Of Ubqln1 Mutation With Brown-Vialetto-Van Laere Syndrome But Not Typical Als, Paloma Gonzalez-Perez, Yubing Lu, Ru-Ju Chian, Peter Sapp, Rudolph Tanzi, Lars Bertram, Diane Mckenna-Yasek, Fen-Biao Gao, Robert Brown

Dr Robert Brown

Genetic variants in UBQLN1 gene have been linked to neurodegeneration and mutations in UBQLN2 have recently been identified as a rare cause of amyotrophic lateral sclerosis (ALS). OBJECTIVE: To test if genetic variants in UBQLN1 are involved in ALS. METHODS: 102 and 94 unrelated patients with familial and sporadic forms of ALS were screened for UBQLN1 gene mutations. Single nucleotide variants were further screened in a larger set of sporadic ALS (SALS) patients and unrelated control subjects using high-throughput Taqman genotyping; variants were further assessed for novelty using the 1000Genomes and NHLBI databases. In vitro studies tested the effect of …


Gene And Stem Cell Therapies For Treating Epilepsy., Janice Naegele, Xu Maisano Nov 2012

Gene And Stem Cell Therapies For Treating Epilepsy., Janice Naegele, Xu Maisano

Janice R Naegele

No abstract provided.


Long-Term Cardiac Rhythm And Repolarization Abnormalities In Refractory Focal And Generalized Epilepsy, Maromi Nei Jul 2012

Long-Term Cardiac Rhythm And Repolarization Abnormalities In Refractory Focal And Generalized Epilepsy, Maromi Nei

maromi nei

This prospective study evaluated 19 individuals with refractory focal or generalized epilepsy utilizing an implantable cardiac loop recorder. Recording averaged 15 months (range 12–19 months) in 18 patients and 1.5 months in one patient. A median of 37 seizures per patient (range 3–657) occurred, with 1,477 seizures total. Cardiac arrhythmias and repolarization abnormalities occurred frequently (in 42% of patients) in refractory epilepsy, particularly during generalized tonic–clonic and tonic seizures. Patients with Lennox-Gastaut syndrome may be at high risk for cardiac abnormalities.