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Full-Text Articles in Neurology

Lesion Loci Of Impaired Affective Prosody: A Systematic Review Of Evidence From Stroke, Alexandra Zezinka Durfee, Shannon M. Sheppard, Margaret L. Blake, Argye E. Hillis Jun 2021

Lesion Loci Of Impaired Affective Prosody: A Systematic Review Of Evidence From Stroke, Alexandra Zezinka Durfee, Shannon M. Sheppard, Margaret L. Blake, Argye E. Hillis

Communication Sciences and Disorders Faculty Articles and Research

Affective prosody, or the changes in rate, rhythm, pitch, and loudness that convey emotion, has long been implicated as a function of the right hemisphere (RH), yet there is a dearth of literature identifying the specific neural regions associated with its processing. The current systematic review aimed to evaluate the evidence on affective prosody localization in the RH. One hundred and ninety articles from 1970 to February 2020 investigating affective prosody comprehension and production in patients with focal brain damage were identified via database searches. Eleven articles met inclusion criteria, passed quality reviews, and were analyzed for affective prosody localization. …


Machine Learning Classification Of Traumatic Brain Injury Patients Versus Healthy Controls Using Arterial Spin Labeled Perfusion Mri, Vanessa I. Grass Jun 2021

Machine Learning Classification Of Traumatic Brain Injury Patients Versus Healthy Controls Using Arterial Spin Labeled Perfusion Mri, Vanessa I. Grass

Dissertations, Theses, and Capstone Projects

Traumatic brain injury (TBI) is one of the most common causes of death and disability worldwide, yet accurate in vivo detection of TBI neuropathology remains challenging due to complexities in the structural and functional changes observed post-injury as well as limitations in conventional neuroimaging modalities. Although advanced neuroimaging techniques such as arterial spin labeling (ASL) can noninvasively assess cerebral blood flow (CBF) changes observed post-injury, this technique is underutilized in TBI research partly due to the low signal-to-noise-ratio (SNR) inherent in ASL imaging. The aim of the current study is to examine the use of machine learning, specifically a Support …


Postdischarge 24/7 Hotline Service For Neurology And Neurosurgery Patients And 1-Year Impact On Readmission Rates, Unplanned Emergency Department Visits, And Patient Satisfaction, Shafqat Bibi, Rida Mitha, Kiran Bano, Farida Datoo, Nadia Karim, Muhammad Shahzad Shamim May 2021

Postdischarge 24/7 Hotline Service For Neurology And Neurosurgery Patients And 1-Year Impact On Readmission Rates, Unplanned Emergency Department Visits, And Patient Satisfaction, Shafqat Bibi, Rida Mitha, Kiran Bano, Farida Datoo, Nadia Karim, Muhammad Shahzad Shamim

School of Nursing & Midwifery

Objective: Telephone triage is a system in which trained nurses use standardized protocols to evaluate symptoms over the phone and determine the appropriate course of action.
Materials and methods: We implemented a protocol for systematic follow up phone calls and telephonic triage to families of neurology and neurosurgery patients after discharge, primarily to improve care transition and to assess its impact on the ratio of visits in the emergency department, readmissions, and overall satisfaction of patients and families. The intervention comprised the implementation of nurse led telephone triage and postdischarge follow up phone calls. After implementing hotline services in mind …


Use Of Artificial Intelligence To Identify Predictors Of Functional Outcomes In Patients With Facioscapulohumeral Muscular Dystrophy, Natalie K. Katz May 2021

Use Of Artificial Intelligence To Identify Predictors Of Functional Outcomes In Patients With Facioscapulohumeral Muscular Dystrophy, Natalie K. Katz

Research Days

Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy characterized by slowly progressive muscle weakness. Symptoms initially involve the facial and shoulder girdle muscles, with later involvement of the distal lower extremities, pelvic girdle and proximal lower extremities. FSHD type 1 (FHSD1) is the most common form (~95% of individuals) and is caused by deletion of microsatellite repeats in the D4Z4 region on chromosome 4 (4q35). Normal individuals have >10 repeats whereas individuals with FSHD1 have 1-10 repeats. There is significant variability in regards to disease severity, rates of progression and functional outcomes, but …


Neural Regions Underlying Object And Action Naming: Complementary Evidence From Acute Stroke And Primary Progressive Aphasia, Bonnie L. Breining, Andreia V. Feria, Brian Caffo, Erin L. Meier, Shannon M. Sheppard, Rajani Sebastian, Donna C. Tippett, Argye E. Hillis May 2021

Neural Regions Underlying Object And Action Naming: Complementary Evidence From Acute Stroke And Primary Progressive Aphasia, Bonnie L. Breining, Andreia V. Feria, Brian Caffo, Erin L. Meier, Shannon M. Sheppard, Rajani Sebastian, Donna C. Tippett, Argye E. Hillis

Communication Sciences and Disorders Faculty Articles and Research

Background: Naming impairment is commonly noted in individuals with aphasia. However, object naming receives more attention than action naming. Furthermore, most studies include participants with aphasia due to only one aetiology, commonly stroke. We developed a new assessment, the Hopkins Action Naming Assessment (HANA), to evaluate action naming impairments.

Methods >& Procedures: Participants (N = 138 PPA, N = 37 acute stroke) completed the BNT and HANA. Behavioural performance was compared. A subset of participants (N = 31 PPA, N = 37 acute stroke) provided neuroimaging data. The whole brain was automatically segmented into regions of interest (ROIs). …


Cerebral Venous Thrombosis Associated With Covid-19 Infection: An Observational, Multicenter Study, Sajid Hameed, Mohammad Wasay, Bashir A. Soomro, Ossama Mansour, Foad Abd-Allah, Tianming Tu, Raja Farhat, Naila Shahbaz, Husnain Hashim, Wasim Alamgir May 2021

Cerebral Venous Thrombosis Associated With Covid-19 Infection: An Observational, Multicenter Study, Sajid Hameed, Mohammad Wasay, Bashir A. Soomro, Ossama Mansour, Foad Abd-Allah, Tianming Tu, Raja Farhat, Naila Shahbaz, Husnain Hashim, Wasim Alamgir

Section of Neurology

Background and purpose: Coronavirus disease 2019 (CO-VID-19) has an increased propensity for systemic hypercoagulability and thromboembolism. An association with cerebrovascular diseases, especially cerebral venous thrombosis (CVT), has been reported among these patients. The objective of the present study was to identify risk factors for CVT as well as its presentation and outcome in COVID-19 patients.
Methods: This is a multicenter and multinational observational study. Ten centers in 4 countries (Pakistan, Egypt, Singapore, and the United Arab Emirates) participated in this study. The study included patients (aged >18 years) with symptomatic CVT and recent COVID-19 infection.
Results: Twenty patients (70% men) …


Posterior Reversible Encephalopathy Syndrome (Pres), Brittany Fera, Andrew Caravello May 2021

Posterior Reversible Encephalopathy Syndrome (Pres), Brittany Fera, Andrew Caravello

Rowan-Virtua Research Day

Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiographic syndrome that describes certain neuroimaging findings in association with clinical symptoms such as headache, seizure, encephalopathy and vision changes. Classically, PRES is associated with poorly controlled hypertension, and patients present with elevated blood pressure in addition to their symptoms. Most importantly, imaging findings and symptoms are typically reversible, and are a separate entity from ischemic or hemorrhagic cerebrovascular accidents or autoimmune causes of similar symptoms, such as multiple sclerosis.


Case Report: Repeated Use Of Tetrahydrocannabinol Associated With Severe Cerebral Vasoconstriction, Pooja Patel, Ryna Then, Dena Little May 2021

Case Report: Repeated Use Of Tetrahydrocannabinol Associated With Severe Cerebral Vasoconstriction, Pooja Patel, Ryna Then, Dena Little

Rowan-Virtua Research Day

Reversible Cerebral Vasoconstriction Syndrome (RCVS) is a rare neurological syndrome. The classic presentation consists of recurrent, severe, ”thunderclap” headaches with neuroimaging findings consistent with segmental vasoconstriction of cerebral arteries. Sympathomimetics including cannabinoids have been found to be triggers in many cases of RCVS. Complications include subarachnoid hemorrhage, intracerebral hemorrhage, cerebral edema and ischemic infarction.

This case highlights the potential devastating and irreversible effects of RCVS precipitated by exposure to a sympathomimetic agent. The case emphasizes the importance of patient counseling regarding abstinence from agents that may provoke RCVS.


Cushing’S Reflex And Bradycardic Arrest In Cryptococcal Meningitis, Scott Briggs, Trent Malcolm May 2021

Cushing’S Reflex And Bradycardic Arrest In Cryptococcal Meningitis, Scott Briggs, Trent Malcolm

Rowan-Virtua Research Day

Cushing’s reflex is a physiologic response to maintain cerebral perfusion pressure with elevated systolic blood pressure, widened pulse pressure, and bradycardia occurring in the setting of elevated intracranial pressure (ICP). The proposed mechanisms for reflexive bradycardia include ischemia to medullary brain tissue and compression of the intracranial segment of the vagus nerve leading to parasympathetic activation. (1) In acutely elevated ICP, bradycardia is a late finding of worsening intracranial pathology suggestive of impending herniation and cardiovascular collapse.

Cryptococcal meningitis has been identified by Infectious Disease Society of America for its association with elevated ICP. (2) Variety of pathogenic mechanisms occurring …


Case Report: Post-Partum Headache, Alaleh Ebrahimi May 2021

Case Report: Post-Partum Headache, Alaleh Ebrahimi

Rowan-Virtua Research Day

Cerebral venous sinus thromboses are rare and occur in 5 people/1,000,000, more commonly in women that are pregnant at about 202/100,000 deliveries with an 11.63% mortality rate. It is believed that pregnancy being a hypercoagulable state is one of the main reasons that it is more common in pregnant and post-partum women. Common symptoms include sudden onset headache, blurry vision, focal neuro deficits, seizures and altered mental status.


Retrograde Thromboembolism From The Proximal Descending Thoracic Aorta Leading To Recurrent Acute Cerebrovascular Events, Mark Staroelsky, Akash Patel, Gregory Holland, Nishant Parikh, Peter Bulik May 2021

Retrograde Thromboembolism From The Proximal Descending Thoracic Aorta Leading To Recurrent Acute Cerebrovascular Events, Mark Staroelsky, Akash Patel, Gregory Holland, Nishant Parikh, Peter Bulik

Rowan-Virtua Research Day

In the United States, approximately 800,000 individuals experience a stroke every year

Nearly 25% of strokes are recurrent

Cryptogenic strokes, or those with unknown causes after testing, make up a significant portion of ischemic strokes, as many as 32%

Retrograde thromboembolic events originating from the proximal descending thoracic aorta should be considered as a potential etiology in cryptogenic strokes

The appropriate management of embolic events from aortic atheroma needs further research

Here, we present a case of a 55-year-old male who had recurrent cryptogenic strokes whose origin was discovered to stem from retrograde embolic phenomena from atheroma located within the …


Alteplase Used In A Child With An Acute Ischemic Stroke, Shah Nawaz Chaudhary, James Espinosa, Alan Lucerna, Adam Richards May 2021

Alteplase Used In A Child With An Acute Ischemic Stroke, Shah Nawaz Chaudhary, James Espinosa, Alan Lucerna, Adam Richards

Rowan-Virtua Research Day

Stroke, also known as cerebrovascular accident (CVA), is a neurological injury caused by inadequate brain perfusion due to either ischemia or hemorrhage. There is an abundance of literature on the management of ischemic strokes in adults and this has led to well-defined diagnostic and treatment guidelines. However, the management of pediatric ischemic strokes is currently based on clinical experience of experts, recommendations of consensus guidelines, case studies and extrapolation from adult clinical trials. In this case report, a pediatric patient suffering from an ischemic stroke is successfully treated with IV alteplase (tPA).


Atypical Presentation Of Non-Aneurysmal Subarachnoid Hemorrhage, Aleks Spirollari, James Espinosa, Kevin Dwyer May 2021

Atypical Presentation Of Non-Aneurysmal Subarachnoid Hemorrhage, Aleks Spirollari, James Espinosa, Kevin Dwyer

Rowan-Virtua Research Day

When most clinicians think of subarachnoid hemorrhages (SAH), they think of “most severe headache of my life” as the most common chief complaint. However, it is only reported in about 70% of patients with SAH. Other symptoms may include nausea and/or vomiting, stiff neck, visual disturbances, loss of consciousness, weakness, and seizures. Patient history may involve previous SAH, hypertension, oral contraceptives in women, recent trauma, family history of intracranial aneurysms, history of smoking, alcohol, and drug use. However, there are atypical causes of SAH that may be missed upon initial evaluation for patients that may not have the above mentioned …


Dazed And Confused: A Complex Migraine Variant, David Parkes, Christopher Schwartz, Alan Lucerna, James Espinosa, Bhumi Shah May 2021

Dazed And Confused: A Complex Migraine Variant, David Parkes, Christopher Schwartz, Alan Lucerna, James Espinosa, Bhumi Shah

Rowan-Virtua Research Day

While most migraine headaches are benign, easily treatable, and able to be discharged home, there is a small percentage that blur the lines and raise concern for neurological compromise. We describe one such rare case of a 26-year-old male with no known history of migraine that presented to the emergency department with acute onset obtundation, confusion, aphasia, and weakness. Labs and imaging of the patient were grossly unremarkable. Treatment with a migraine cocktail and valproate led to full recovery within 24 hours of initial presentation. Infrequently, complex migraines can present with significant and concerning mental status changes. Early imaging, neurologic …


From Left Arm Numbness To Incidental Pituitary Macroadenoma, Melissa Itidiare Locke May 2021

From Left Arm Numbness To Incidental Pituitary Macroadenoma, Melissa Itidiare Locke

Rowan-Virtua Research Day

Pituitary adenomas are the most common tumors in the sella turcica. The symptoms of vision loss or change is due to the anatomical location of the pituitary tumor beneath the optic nerve. (2) As the tumor grows in size it can compress the optic nerve and vision changes will occur. Our case demonstrates a 40 year old male who had one brief 1 time episode of blurry vison and dull intermittent headaches that was not debilitating in nature. A discovery of pituitary adenoma prior to onset of symptoms of constant vision changes or elevated hormones are crucial to a more …


Initial Multiple Sclerosis Diagnosis In The Emergency Department, Adam Kandil, James Espinosa, Henry Schuitema May 2021

Initial Multiple Sclerosis Diagnosis In The Emergency Department, Adam Kandil, James Espinosa, Henry Schuitema

Rowan-Virtua Research Day

Multiple sclerosis is a chronic autoimmune disease consisting of inflammation, demyelination and loss of axon integrity in the central nervous system. Like many autoimmune diseases, its severity, initial presentation and symptomatology vary. MS is typically onset in young adults between twenty to forty years old, and has been found two-three times more likely in women than in men. As a chronic illness, like many others, it can present in the emergency department as an undifferentiated neurologic complaint. This is a case report of new onset multiple sclerosis in the emergency department, outlining the importance of a broad set of differential …


Metastatic Adenocarcinoma Of The Prostate To The Brain Initially Diagnosed As Meningioma By Craniotomy: A Case Report, Julia T. Scali, Young Son, Paul Chialastri, Thomas Mueller May 2021

Metastatic Adenocarcinoma Of The Prostate To The Brain Initially Diagnosed As Meningioma By Craniotomy: A Case Report, Julia T. Scali, Young Son, Paul Chialastri, Thomas Mueller

Rowan-Virtua Research Day

Prostate cancer is the second leading cause of cancer death in men after lung cancer. The most common site of prostate metastasis is bone (84%), lymph node (10.6%), liver (10.2%), and thorax (9.1%), with 18.4% to multiple metastatic sites [1]. Prostate metastasis to the brain is rare, with less than 1% documented cases from M.D. Anderson Cancer Center [2]. It is estimated that 1%-6% of prostate cancer metastasis is found in post mortem examination [3]. Parenchymal brain metastasis has a mean survival of 9.2 months after discovery of brain metastasis [4]. Acute neurological symptoms of metastatic prostate cancer are observed …


Physiological Response And Tissue Damage Following Different Depths Of Impact In A Rodent Model Of Mild Traumatic Brain Injury, Haven K. Predale, Christopher P. Knapp, Barry D. Waterhouse, Rachel L. Navarra May 2021

Physiological Response And Tissue Damage Following Different Depths Of Impact In A Rodent Model Of Mild Traumatic Brain Injury, Haven K. Predale, Christopher P. Knapp, Barry D. Waterhouse, Rachel L. Navarra

Rowan-Virtua Research Day

Mild traumatic brain injury (mTBI) is a serious public health concern that can result in significant neurological and behavioral deficit. mTBI results from impact to the head and can be repetitive in nature, especially in sports and domestic violence cases. Our laboratory studies the effects of repetitive mTBI on risky choice behavior in rodents using a closed-head controlled cortical impact (CH-CCI) model of injury and a well-established probabilistic discounting task that assesses risk-based decision-making behavior. We have recently found that females, but not males, display transient increases in risky choice behavior following three CH-CI’s delivered at 5.5m/s velocity and 2.5 …


Investigating Diffusion Tensor Imaging Correlates Of Cognitive Impairment In Idiopathic Normal Pressure Hydrocephalus And Alzheimer's Disease, Omar Hasan, Omar Hasan May 2021

Investigating Diffusion Tensor Imaging Correlates Of Cognitive Impairment In Idiopathic Normal Pressure Hydrocephalus And Alzheimer's Disease, Omar Hasan, Omar Hasan

Dissertations and Theses (Open Access)

Modest expansion of the human brain cerebrospinal fluid (CSF)-filled ventricles is normal with aging, and because of this, it can be difficult for physicians to accurately diagnose and treat enlarged ventricles (ventriculomegaly), called hydrocephalus1 (fluid or water in the brain) Ventriculomegaly occurs due to an obstruction (such as a blood clot or tumor), or a change in CSF absorption2. Primary hydrocephalus, also called idiopathic normal pressure hydrocephalus (iNPH), is non-obstructive and may be comorbid with other neurodegenerative diseases such as Alzheimer’s disease (AD) or frontotemporal dementia (FTD). Clinically, it can be difficult to tell whether the pathophysiological …


Characterizing Subtypes And Neural Correlates Of Receptive Aprosodia In Acute Right Hemisphere Stroke, Shannon M. Sheppard, Erin L. Meier, Alexandra Zezinka Durfee, Alex Walker, Jennifer Shea, Argye E. Hillis Apr 2021

Characterizing Subtypes And Neural Correlates Of Receptive Aprosodia In Acute Right Hemisphere Stroke, Shannon M. Sheppard, Erin L. Meier, Alexandra Zezinka Durfee, Alex Walker, Jennifer Shea, Argye E. Hillis

Communication Sciences and Disorders Faculty Articles and Research

Introduction: Speakers naturally produce prosodic variations depending on their emotional state. Receptive prosody has several processing stages. We aimed to conduct lesion-symptom mapping to determine whether damage (core infarct or hypoperfusion) to specific brain areas was associated with receptive aprosodia or with impairment at different processing stages in individuals with acute right hemisphere stroke. We also aimed to determine whether different subtypes of receptive aprosodia exist that are characterized by distinctive behavioral performance patterns.

Methods: Twenty patients with receptive aprosodia following right hemisphere ischemic stroke were enrolled within five days of stroke; clinical imaging was acquired. Participants completed …


C25: The “Spot Sign”: A Predictor Of Hematoma Expansion, Mckenzie Merritt Apr 2021

C25: The “Spot Sign”: A Predictor Of Hematoma Expansion, Mckenzie Merritt

Annual Research Symposium

No abstract provided.


Management Of Paediatric Intracranial Ependymoma, Syeda Kubra Kishwar Jafri, Saqib Kamran Bakhshi, Muhammad Shahzad Shamim Apr 2021

Management Of Paediatric Intracranial Ependymoma, Syeda Kubra Kishwar Jafri, Saqib Kamran Bakhshi, Muhammad Shahzad Shamim

Section of Neurosurgery

Intracranial ependymoma are relatively common paediatric brain tumours, but their eloquent location and high recurrence rate pose a significant challenge. Gross total resection or maximum safe resection followed by adjuvant radiotherapy are currently the standard recommended treatment, although there is still nearly 50% recurrence risk at 5 years. Chemotherapy has shown some promising results after recent advances in molecular understanding of ependymomas, but needs further evaluation before it could be added to the treatment regime.


Tranexamic Acid To Reduce Head Injury Death In People With Traumatic Brain Injury: The Crash-3 International Rct, Ian Roberts, Haleema Shakur-Still, Amy Aeron-Thoma, Danielle Beaumont, Antonio Belli, Amy Brenner, Madeleine Cargill, Rizwana Chaudhri, Nicolas Douglas, Rashid Jooma Apr 2021

Tranexamic Acid To Reduce Head Injury Death In People With Traumatic Brain Injury: The Crash-3 International Rct, Ian Roberts, Haleema Shakur-Still, Amy Aeron-Thoma, Danielle Beaumont, Antonio Belli, Amy Brenner, Madeleine Cargill, Rizwana Chaudhri, Nicolas Douglas, Rashid Jooma

Section of Neurosurgery

Background: Tranexamic acid safely reduces mortality in traumatic extracranial bleeding. Intracranial bleeding is common after traumatic brain injury and can cause brain herniation and death. We assessed the effects of tranexamic acid in traumatic brain injury patients.
Objective: To assess the effects of tranexamic acid on death, disability and vascular occlusive events in traumatic brain injury patients. We also assessed cost-effectiveness.
Design: Randomised trial and economic evaluation. Patients were assigned by selecting a numbered treatment pack from a box containing eight packs that were identical apart from the pack number. Patients, caregivers and those assessing outcomes were masked to allocation. …


Autism: A Deep Insight, Hemaila Tariq, Muhammad Yusuf Hafiz Apr 2021

Autism: A Deep Insight, Hemaila Tariq, Muhammad Yusuf Hafiz

Medical College Documents

No abstract provided.


Gliosarcoma In Patients Under 20 Years Of Age. A Clinicopathologic Study Of 11 Cases And Detailed Review Of The Literature, Nasir Ud Din, Hira Ishtiaq, Shabina Rahim, Jamshid Abdul Ghafar, Zubair Ahmad Feb 2021

Gliosarcoma In Patients Under 20 Years Of Age. A Clinicopathologic Study Of 11 Cases And Detailed Review Of The Literature, Nasir Ud Din, Hira Ishtiaq, Shabina Rahim, Jamshid Abdul Ghafar, Zubair Ahmad

Department of Pathology and Laboratory Medicine

Background: Gliosarcoma is a rare variant of IDH- wild type glioblastoma with both glial and mesenchymal differentiation. It accounts for approximately 2% of glioblastomas and has a poor prognosis similar to that of classic glioblastoma. It is seen mostly between 40 and 60 years of age with a mean age over 50 years. Pediatric gliosarcoma is even rarer than gliosarcoma in adults. We describe the clinicopathological features of gliosarcoma in patients under 20 years of age and determine whether there are significant differences from gliosarcoma in adults. We also present detailed review of published literature on pediatric gliosarcoma.
Methods: Slides …


The Mechanism Of Β-N-Methylamino-L-Alanine Inhibition Of Trna Aminoacylation And Its Impact On Misincorporation, Nien-Ching Han, Tammy J. Bullwinkle, Kaeli F. Loeb, Kym F. Faull, Kyle Mohler, Jesse Rinehart, Michael Ibba Jan 2021

The Mechanism Of Β-N-Methylamino-L-Alanine Inhibition Of Trna Aminoacylation And Its Impact On Misincorporation, Nien-Ching Han, Tammy J. Bullwinkle, Kaeli F. Loeb, Kym F. Faull, Kyle Mohler, Jesse Rinehart, Michael Ibba

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

β-N-methylamino-l-alanine (BMAA) is a nonproteinogenic amino acid that has been associated with neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and Alzheimer's disease (AD). BMAA has been found in human protein extracts; however, the mechanism by which it enters the proteome is still unclear. It has been suggested that BMAA is misincorporated at serine codons during protein synthesis, but direct evidence of its cotranslational incorporation is currently lacking. Here, using LC-MS–purified BMAA and several biochemical assays, we sought to determine whether any aminoacyl-tRNA synthetase (aaRS) utilizes BMAA as a substrate for aminoacylation. Despite BMAA's previously predicted misincorporation at serine …


A Pathogenic Ufsp2 Variant In An Autosomal Recessive Form Of Pediatric Neurodevelopmental Anomalies And Epilepsy, Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson Jan 2021

A Pathogenic Ufsp2 Variant In An Autosomal Recessive Form Of Pediatric Neurodevelopmental Anomalies And Epilepsy, Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson

Department of Paediatrics and Child Health

Purpose: Neurodevelopmental disabilities are common and genetically heterogeneous. We identified a homozygous variant in the gene encoding UFM1-specific peptidase 2 (UFSP2), which participates in the UFMylation pathway of protein modification. UFSP2 variants are implicated in autosomal dominant skeletal dysplasias, but not neurodevelopmental disorders. Homozygosity for the variant occurred in eight children from four South Asian families with neurodevelopmental delay and epilepsy. We describe the clinical consequences of this variant and its effect on UFMylation.
Methods: Exome sequencing was used to detect potentially pathogenic variants and identify shared regions of homozygosity. Immunoblotting assessed protein expression and post-translational modifications in patient-derived fibroblasts. …


Open Neuroscience Initiative, Austin Lim Jan 2021

Open Neuroscience Initiative, Austin Lim

College of Science and Health Full Text Publications

The Open Neuroscience Initiative is a free-to-use textbook

This project began as a means to overcoming the financial burden that face undergraduate neuroscience students when buying textbooks. By compiling and writing a completely free-to-access textbook that covers the foundations of a typical college introduction to neuroscience course, students would have one less obstacle to overcome in their educational career, allowing them to focus their valuable time and attention on learning rather than finances. To make this project a reality, I began with a humble tweet in May 2019 that managed to gain a tiny bit of traction among the neuroscience …


Potential Perioperative Complications Due To Difference In Timing Of Systemic Heparinization During Ruptured Aneurysm Coiling, Rouzbeh Kotaki, Ameer E. Hassan, Wondwossen G. Tekle Jan 2021

Potential Perioperative Complications Due To Difference In Timing Of Systemic Heparinization During Ruptured Aneurysm Coiling, Rouzbeh Kotaki, Ameer E. Hassan, Wondwossen G. Tekle

MEDI 9331 Scholarly Activities Clinical Years

Potential Perioperative Complications Due To Differences in Timing Of Systemic Heparin Distribution During Ruptured Aneurysm Coiling

Introduction:

In general, systematic heparin anticoagulation is standard in regards to neurovascular intervention. When coiling ruptured aneurysms, many neurointerventionalists have their own protocol as to timing of systemic heparinization. There is ample research and literature reviewing the frequency of perioperative events, predictors and outcomes, as well as the efficacy in the use of anticoagulants and/or antiplatelets before, during, and after neurovascular procedures to prevent adverse outcomes. However, there currently exists a dearth of research in regards to timing of distribution of heparin intraoperatively and …


Endmt Regulation By Small Rnas In Diabetes-Associated Fibrotic Conditions: Potential Link With Oxidative Stress, Roberta Giordo, Yusra M A Ahmed, Hilda Allam, Salah Abusnana, Lucia Pappalardo, Gheyath K Nasrallah, Arduino Aleksander Mangoni, Gianfranco Pintus Jan 2021

Endmt Regulation By Small Rnas In Diabetes-Associated Fibrotic Conditions: Potential Link With Oxidative Stress, Roberta Giordo, Yusra M A Ahmed, Hilda Allam, Salah Abusnana, Lucia Pappalardo, Gheyath K Nasrallah, Arduino Aleksander Mangoni, Gianfranco Pintus

Faculty, Staff and Student Publications

Diabetes-associated complications, such as retinopathy, nephropathy, cardiomyopathy, and atherosclerosis, the main consequences of long-term hyperglycemia, often lead to organ dysfunction, disability, and increased mortality. A common denominator of these complications is the myofibroblast-driven excessive deposition of extracellular matrix proteins. Although fibroblast appears to be the primary source of myofibroblasts, other cells, including endothelial cells, can generate myofibroblasts through a process known as endothelial to mesenchymal transition (EndMT). During EndMT, endothelial cells lose their typical phenotype to acquire mesenchymal features, characterized by the development of invasive and migratory abilities as well as the expression of typical mesenchymal products such as α-smooth …